Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178544084T>ACA430241522TTN,TTN-AS1c.88356A>T (p.Leu29452=)
c.69441A>T (p.Leu23147=)
c.69240A>T (p.Leu23080=)
c.68865A>T (p.Leu22955=)
c.96060A>T (p.Leu32020=)
c.91137A>T (p.Leu30379=)
n.446+20448T>A
n.2043+1723T>A
c.95157A>T (p.Leu31719=)
c.69051A>T (p.Leu23017=)
c.68910A>T (p.Leu22970=)
c.94953A>T (p.Leu31651=)
c.90351A>T (p.Leu30117=)
c.90348A>T (p.Leu30116=)
c.87390A>T (p.Leu29130=)
c.69006A>T (p.Leu23002=)
c.90501A>T (p.Leu30167=)
c.90498A>T (p.Leu30166=)
c.89931A>T (p.Leu29977=)
c.87273A>T (p.Leu29091=)
c.87192A>T (p.Leu29064=)
c.68955A>T (p.Leu22985=)
c.58809A>T (p.Leu19603=)
2g.178544084T>CCA430241523TTN,TTN-AS1c.88356A>G (p.Leu29452=)
c.69441A>G (p.Leu23147=)
c.69240A>G (p.Leu23080=)
c.68865A>G (p.Leu22955=)
c.96060A>G (p.Leu32020=)
c.91137A>G (p.Leu30379=)
n.446+20448T>C
n.2043+1723T>C
c.95157A>G (p.Leu31719=)
c.69051A>G (p.Leu23017=)
c.68910A>G (p.Leu22970=)
c.94953A>G (p.Leu31651=)
c.90351A>G (p.Leu30117=)
c.90348A>G (p.Leu30116=)
c.87390A>G (p.Leu29130=)
c.69006A>G (p.Leu23002=)
c.90501A>G (p.Leu30167=)
c.90498A>G (p.Leu30166=)
c.89931A>G (p.Leu29977=)
c.87273A>G (p.Leu29091=)
c.87192A>G (p.Leu29064=)
c.68955A>G (p.Leu22985=)
c.58809A>G (p.Leu19603=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178544084T>GCA430241524TTN,TTN-AS1c.88356A>C (p.Leu29452=)
c.69441A>C (p.Leu23147=)
c.69240A>C (p.Leu23080=)
c.68865A>C (p.Leu22955=)
c.96060A>C (p.Leu32020=)
c.91137A>C (p.Leu30379=)
n.446+20448T>G
n.2043+1723T>G
c.95157A>C (p.Leu31719=)
c.69051A>C (p.Leu23017=)
c.68910A>C (p.Leu22970=)
c.94953A>C (p.Leu31651=)
c.90351A>C (p.Leu30117=)
c.90348A>C (p.Leu30116=)
c.87390A>C (p.Leu29130=)
c.69006A>C (p.Leu23002=)
c.90501A>C (p.Leu30167=)
c.90498A>C (p.Leu30166=)
c.89931A>C (p.Leu29977=)
c.87273A>C (p.Leu29091=)
c.87192A>C (p.Leu29064=)
c.68955A>C (p.Leu22985=)
c.58809A>C (p.Leu19603=)
2g.178544084T=CA1310521318TTN,TTN-AS1c.88356A= (p.Leu29452=)
c.69441A= (p.Leu23147=)
c.69240A= (p.Leu23080=)
c.68865A= (p.Leu22955=)
c.96060A= (p.Leu32020=)
c.91137A= (p.Leu30379=)
n.446+20448T=
n.2043+1723T=
c.95157A= (p.Leu31719=)
c.69051A= (p.Leu23017=)
c.68910A= (p.Leu22970=)
c.94953A= (p.Leu31651=)
c.90351A= (p.Leu30117=)
c.90348A= (p.Leu30116=)
c.87390A= (p.Leu29130=)
c.69006A= (p.Leu23002=)
c.90501A= (p.Leu30167=)
c.90498A= (p.Leu30166=)
c.89931A= (p.Leu29977=)
c.87273A= (p.Leu29091=)
c.87192A= (p.Leu29064=)
c.68955A= (p.Leu22985=)
c.58809A= (p.Leu19603=)
2g.178544085delCA2701298140TTN,TTN-AS1c.88355del (p.Leu29452GlnfsTer5)
c.69440del (p.Leu23147GlnfsTer5)
c.69239del (p.Leu23080GlnfsTer5)
c.68864del (p.Leu22955GlnfsTer5)
c.96059del (p.Leu32020GlnfsTer5)
c.91136del (p.Leu30379GlnfsTer5)
n.446+20449del
n.2043+1724del
c.95156del (p.Leu31719GlnfsTer5)
c.69050del (p.Leu23017GlnfsTer5)
c.68909del (p.Leu22970GlnfsTer5)
c.94952del (p.Leu31651GlnfsTer5)
c.90350del (p.Leu30117GlnfsTer5)
c.90347del (p.Leu30116GlnfsTer5)
c.87389del (p.Leu29130GlnfsTer5)
c.69005del (p.Leu23002GlnfsTer5)
c.90500del (p.Leu30167GlnfsTer5)
c.90497del (p.Leu30166GlnfsTer5)
c.89930del (p.Leu29977GlnfsTer5)
c.87272del (p.Leu29091GlnfsTer5)
c.87191del (p.Leu29064GlnfsTer5)
c.68954del (p.Leu22985GlnfsTer5)
c.58808del (p.Leu19603GlnfsTer5)
 dbSNP
2g.178544085A>CCA349454143TTN,TTN-AS1c.88355T>G (p.Leu29452Arg)
c.69440T>G (p.Leu23147Arg)
c.69239T>G (p.Leu23080Arg)
c.68864T>G (p.Leu22955Arg)
c.96059T>G (p.Leu32020Arg)
c.91136T>G (p.Leu30379Arg)
n.446+20449A>C
n.2043+1724A>C
c.95156T>G (p.Leu31719Arg)
c.69050T>G (p.Leu23017Arg)
c.68909T>G (p.Leu22970Arg)
c.94952T>G (p.Leu31651Arg)
c.90350T>G (p.Leu30117Arg)
c.90347T>G (p.Leu30116Arg)
c.87389T>G (p.Leu29130Arg)
c.69005T>G (p.Leu23002Arg)
c.90500T>G (p.Leu30167Arg)
c.90497T>G (p.Leu30166Arg)
c.89930T>G (p.Leu29977Arg)
c.87272T>G (p.Leu29091Arg)
c.87191T>G (p.Leu29064Arg)
c.68954T>G (p.Leu22985Arg)
c.58808T>G (p.Leu19603Arg)
2g.178544085A>GCA349454161TTN,TTN-AS1c.88355T>C (p.Leu29452Pro)
c.69440T>C (p.Leu23147Pro)
c.69239T>C (p.Leu23080Pro)
c.68864T>C (p.Leu22955Pro)
c.96059T>C (p.Leu32020Pro)
c.91136T>C (p.Leu30379Pro)
n.446+20449A>G
n.2043+1724A>G
c.95156T>C (p.Leu31719Pro)
c.69050T>C (p.Leu23017Pro)
c.68909T>C (p.Leu22970Pro)
c.94952T>C (p.Leu31651Pro)
c.90350T>C (p.Leu30117Pro)
c.90347T>C (p.Leu30116Pro)
c.87389T>C (p.Leu29130Pro)
c.69005T>C (p.Leu23002Pro)
c.90500T>C (p.Leu30167Pro)
c.90497T>C (p.Leu30166Pro)
c.89930T>C (p.Leu29977Pro)
c.87272T>C (p.Leu29091Pro)
c.87191T>C (p.Leu29064Pro)
c.68954T>C (p.Leu22985Pro)
c.58808T>C (p.Leu19603Pro)
2g.178544085A>TCA349454156TTN,TTN-AS1c.88355T>A (p.Leu29452Gln)
c.69440T>A (p.Leu23147Gln)
c.69239T>A (p.Leu23080Gln)
c.68864T>A (p.Leu22955Gln)
c.96059T>A (p.Leu32020Gln)
c.91136T>A (p.Leu30379Gln)
n.446+20449A>T
n.2043+1724A>T
c.95156T>A (p.Leu31719Gln)
c.69050T>A (p.Leu23017Gln)
c.68909T>A (p.Leu22970Gln)
c.94952T>A (p.Leu31651Gln)
c.90350T>A (p.Leu30117Gln)
c.90347T>A (p.Leu30116Gln)
c.87389T>A (p.Leu29130Gln)
c.69005T>A (p.Leu23002Gln)
c.90500T>A (p.Leu30167Gln)
c.90497T>A (p.Leu30166Gln)
c.89930T>A (p.Leu29977Gln)
c.87272T>A (p.Leu29091Gln)
c.87191T>A (p.Leu29064Gln)
c.68954T>A (p.Leu22985Gln)
c.58808T>A (p.Leu19603Gln)
2g.178544086G>ACA430241526TTN,TTN-AS1c.88354C>T (p.Leu29452=)
c.69439C>T (p.Leu23147=)
c.69238C>T (p.Leu23080=)
c.68863C>T (p.Leu22955=)
c.96058C>T (p.Leu32020=)
c.91135C>T (p.Leu30379=)
n.446+20450G>A
n.2043+1725G>A
c.95155C>T (p.Leu31719=)
c.69049C>T (p.Leu23017=)
c.68908C>T (p.Leu22970=)
c.94951C>T (p.Leu31651=)
c.90349C>T (p.Leu30117=)
c.90346C>T (p.Leu30116=)
c.87388C>T (p.Leu29130=)
c.69004C>T (p.Leu23002=)
c.90499C>T (p.Leu30167=)
c.90496C>T (p.Leu30166=)
c.89929C>T (p.Leu29977=)
c.87271C>T (p.Leu29091=)
c.87190C>T (p.Leu29064=)
c.68953C>T (p.Leu22985=)
c.58807C>T (p.Leu19603=)
2g.178544086G>CCA349454169TTN,TTN-AS1c.88354C>G (p.Leu29452Val)
c.69439C>G (p.Leu23147Val)
c.69238C>G (p.Leu23080Val)
c.68863C>G (p.Leu22955Val)
c.96058C>G (p.Leu32020Val)
c.91135C>G (p.Leu30379Val)
n.446+20450G>C
n.2043+1725G>C
c.95155C>G (p.Leu31719Val)
c.69049C>G (p.Leu23017Val)
c.68908C>G (p.Leu22970Val)
c.94951C>G (p.Leu31651Val)
c.90349C>G (p.Leu30117Val)
c.90346C>G (p.Leu30116Val)
c.87388C>G (p.Leu29130Val)
c.69004C>G (p.Leu23002Val)
c.90499C>G (p.Leu30167Val)
c.90496C>G (p.Leu30166Val)
c.89929C>G (p.Leu29977Val)
c.87271C>G (p.Leu29091Val)
c.87190C>G (p.Leu29064Val)
c.68953C>G (p.Leu22985Val)
c.58807C>G (p.Leu19603Val)
2g.178544086G>TCA349454171TTN,TTN-AS1c.88354C>A (p.Leu29452Ile)
c.69439C>A (p.Leu23147Ile)
c.69238C>A (p.Leu23080Ile)
c.68863C>A (p.Leu22955Ile)
c.96058C>A (p.Leu32020Ile)
c.91135C>A (p.Leu30379Ile)
n.446+20450G>T
n.2043+1725G>T
c.95155C>A (p.Leu31719Ile)
c.69049C>A (p.Leu23017Ile)
c.68908C>A (p.Leu22970Ile)
c.94951C>A (p.Leu31651Ile)
c.90349C>A (p.Leu30117Ile)
c.90346C>A (p.Leu30116Ile)
c.87388C>A (p.Leu29130Ile)
c.69004C>A (p.Leu23002Ile)
c.90499C>A (p.Leu30167Ile)
c.90496C>A (p.Leu30166Ile)
c.89929C>A (p.Leu29977Ile)
c.87271C>A (p.Leu29091Ile)
c.87190C>A (p.Leu29064Ile)
c.68953C>A (p.Leu22985Ile)
c.58807C>A (p.Leu19603Ile)
2g.178544086_178544088delCA2662123729TTN,TTN-AS1c.88352_88354del (p.Asp29451_Leu29452delinsVal)
c.69437_69439del (p.Asp23146_Leu23147delinsVal)
c.69236_69238del (p.Asp23079_Leu23080delinsVal)
c.68861_68863del (p.Asp22954_Leu22955delinsVal)
c.96056_96058del (p.Asp32019_Leu32020delinsVal)
c.91133_91135del (p.Asp30378_Leu30379delinsVal)
n.446+20450_446+20452del
n.2043+1725_2043+1727del
c.95153_95155del (p.Asp31718_Leu31719delinsVal)
c.69047_69049del (p.Asp23016_Leu23017delinsVal)
c.68906_68908del (p.Asp22969_Leu22970delinsVal)
c.94949_94951del (p.Asp31650_Leu31651delinsVal)
c.90347_90349del (p.Asp30116_Leu30117delinsVal)
c.90344_90346del (p.Asp30115_Leu30116delinsVal)
c.87386_87388del (p.Asp29129_Leu29130delinsVal)
c.69002_69004del (p.Asp23001_Leu23002delinsVal)
c.90497_90499del (p.Asp30166_Leu30167delinsVal)
c.90494_90496del (p.Asp30165_Leu30166delinsVal)
c.89927_89929del (p.Asp29976_Leu29977delinsVal)
c.87269_87271del (p.Asp29090_Leu29091delinsVal)
c.87188_87190del (p.Asp29063_Leu29064delinsVal)
c.68951_68953del (p.Asp22984_Leu22985delinsVal)
c.58805_58807del (p.Asp19602_Leu19603delinsVal)
 gnomAD v4
2g.178544087A=CA1310521320TTN,TTN-AS1c.88353T= (p.Asp29451=)
c.69438T= (p.Asp23146=)
c.69237T= (p.Asp23079=)
c.68862T= (p.Asp22954=)
c.96057T= (p.Asp32019=)
c.91134T= (p.Asp30378=)
n.446+20451A=
n.2043+1726A=
c.95154T= (p.Asp31718=)
c.69048T= (p.Asp23016=)
c.68907T= (p.Asp22969=)
c.94950T= (p.Asp31650=)
c.90348T= (p.Asp30116=)
c.90345T= (p.Asp30115=)
c.87387T= (p.Asp29129=)
c.69003T= (p.Asp23001=)
c.90498T= (p.Asp30166=)
c.90495T= (p.Asp30165=)
c.89928T= (p.Asp29976=)
c.87270T= (p.Asp29090=)
c.87189T= (p.Asp29063=)
c.68952T= (p.Asp22984=)
c.58806T= (p.Asp19602=)
2g.178544087A>CCA349454175TTN,TTN-AS1c.88353T>G (p.Asp29451Glu)
c.69438T>G (p.Asp23146Glu)
c.69237T>G (p.Asp23079Glu)
c.68862T>G (p.Asp22954Glu)
c.96057T>G (p.Asp32019Glu)
c.91134T>G (p.Asp30378Glu)
n.446+20451A>C
n.2043+1726A>C
c.95154T>G (p.Asp31718Glu)
c.69048T>G (p.Asp23016Glu)
c.68907T>G (p.Asp22969Glu)
c.94950T>G (p.Asp31650Glu)
c.90348T>G (p.Asp30116Glu)
c.90345T>G (p.Asp30115Glu)
c.87387T>G (p.Asp29129Glu)
c.69003T>G (p.Asp23001Glu)
c.90498T>G (p.Asp30166Glu)
c.90495T>G (p.Asp30165Glu)
c.89928T>G (p.Asp29976Glu)
c.87270T>G (p.Asp29090Glu)
c.87189T>G (p.Asp29063Glu)
c.68952T>G (p.Asp22984Glu)
c.58806T>G (p.Asp19602Glu)
2g.178544087A>GCA430241530TTN,TTN-AS1c.88353T>C (p.Asp29451=)
c.69438T>C (p.Asp23146=)
c.69237T>C (p.Asp23079=)
c.68862T>C (p.Asp22954=)
c.96057T>C (p.Asp32019=)
c.91134T>C (p.Asp30378=)
n.446+20451A>G
n.2043+1726A>G
c.95154T>C (p.Asp31718=)
c.69048T>C (p.Asp23016=)
c.68907T>C (p.Asp22969=)
c.94950T>C (p.Asp31650=)
c.90348T>C (p.Asp30116=)
c.90345T>C (p.Asp30115=)
c.87387T>C (p.Asp29129=)
c.69003T>C (p.Asp23001=)
c.90498T>C (p.Asp30166=)
c.90495T>C (p.Asp30165=)
c.89928T>C (p.Asp29976=)
c.87270T>C (p.Asp29090=)
c.87189T>C (p.Asp29063=)
c.68952T>C (p.Asp22984=)
c.58806T>C (p.Asp19602=)
2g.178544087A>TCA237677TTN,TTN-AS1c.88353T>A (p.Asp29451Glu)
c.69438T>A (p.Asp23146Glu)
c.69237T>A (p.Asp23079Glu)
c.68862T>A (p.Asp22954Glu)
c.96057T>A (p.Asp32019Glu)
c.91134T>A (p.Asp30378Glu)
n.446+20451A>T
n.2043+1726A>T
c.95154T>A (p.Asp31718Glu)
c.69048T>A (p.Asp23016Glu)
c.68907T>A (p.Asp22969Glu)
c.94950T>A (p.Asp31650Glu)
c.90348T>A (p.Asp30116Glu)
c.90345T>A (p.Asp30115Glu)
c.87387T>A (p.Asp29129Glu)
c.69003T>A (p.Asp23001Glu)
c.90498T>A (p.Asp30166Glu)
c.90495T>A (p.Asp30165Glu)
c.89928T>A (p.Asp29976Glu)
c.87270T>A (p.Asp29090Glu)
c.87189T>A (p.Asp29063Glu)
c.68952T>A (p.Asp22984Glu)
c.58806T>A (p.Asp19602Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178544088T>ACA349454198TTN,TTN-AS1c.88352A>T (p.Asp29451Val)
c.69437A>T (p.Asp23146Val)
c.69236A>T (p.Asp23079Val)
c.68861A>T (p.Asp22954Val)
c.96056A>T (p.Asp32019Val)
c.91133A>T (p.Asp30378Val)
n.446+20452T>A
n.2043+1727T>A
c.95153A>T (p.Asp31718Val)
c.69047A>T (p.Asp23016Val)
c.68906A>T (p.Asp22969Val)
c.94949A>T (p.Asp31650Val)
c.90347A>T (p.Asp30116Val)
c.90344A>T (p.Asp30115Val)
c.87386A>T (p.Asp29129Val)
c.69002A>T (p.Asp23001Val)
c.90497A>T (p.Asp30166Val)
c.90494A>T (p.Asp30165Val)
c.89927A>T (p.Asp29976Val)
c.87269A>T (p.Asp29090Val)
c.87188A>T (p.Asp29063Val)
c.68951A>T (p.Asp22984Val)
c.58805A>T (p.Asp19602Val)
2g.178544088T>CCA349454202TTN,TTN-AS1c.88352A>G (p.Asp29451Gly)
c.69437A>G (p.Asp23146Gly)
c.69236A>G (p.Asp23079Gly)
c.68861A>G (p.Asp22954Gly)
c.96056A>G (p.Asp32019Gly)
c.91133A>G (p.Asp30378Gly)
n.446+20452T>C
n.2043+1727T>C
c.95153A>G (p.Asp31718Gly)
c.69047A>G (p.Asp23016Gly)
c.68906A>G (p.Asp22969Gly)
c.94949A>G (p.Asp31650Gly)
c.90347A>G (p.Asp30116Gly)
c.90344A>G (p.Asp30115Gly)
c.87386A>G (p.Asp29129Gly)
c.69002A>G (p.Asp23001Gly)
c.90497A>G (p.Asp30166Gly)
c.90494A>G (p.Asp30165Gly)
c.89927A>G (p.Asp29976Gly)
c.87269A>G (p.Asp29090Gly)
c.87188A>G (p.Asp29063Gly)
c.68951A>G (p.Asp22984Gly)
c.58805A>G (p.Asp19602Gly)
2g.178544088T>GCA349454205TTN,TTN-AS1c.88352A>C (p.Asp29451Ala)
c.69437A>C (p.Asp23146Ala)
c.69236A>C (p.Asp23079Ala)
c.68861A>C (p.Asp22954Ala)
c.96056A>C (p.Asp32019Ala)
c.91133A>C (p.Asp30378Ala)
n.446+20452T>G
n.2043+1727T>G
c.95153A>C (p.Asp31718Ala)
c.69047A>C (p.Asp23016Ala)
c.68906A>C (p.Asp22969Ala)
c.94949A>C (p.Asp31650Ala)
c.90347A>C (p.Asp30116Ala)
c.90344A>C (p.Asp30115Ala)
c.87386A>C (p.Asp29129Ala)
c.69002A>C (p.Asp23001Ala)
c.90497A>C (p.Asp30166Ala)
c.90494A>C (p.Asp30165Ala)
c.89927A>C (p.Asp29976Ala)
c.87269A>C (p.Asp29090Ala)
c.87188A>C (p.Asp29063Ala)
c.68951A>C (p.Asp22984Ala)
c.58805A>C (p.Asp19602Ala)
2g.178544089C>ACA349454206TTN,TTN-AS1c.88351G>T (p.Asp29451Tyr)
c.69436G>T (p.Asp23146Tyr)
c.69235G>T (p.Asp23079Tyr)
c.68860G>T (p.Asp22954Tyr)
c.96055G>T (p.Asp32019Tyr)
c.91132G>T (p.Asp30378Tyr)
n.446+20453C>A
n.2043+1728C>A
c.95152G>T (p.Asp31718Tyr)
c.69046G>T (p.Asp23016Tyr)
c.68905G>T (p.Asp22969Tyr)
c.94948G>T (p.Asp31650Tyr)
c.90346G>T (p.Asp30116Tyr)
c.90343G>T (p.Asp30115Tyr)
c.87385G>T (p.Asp29129Tyr)
c.69001G>T (p.Asp23001Tyr)
c.90496G>T (p.Asp30166Tyr)
c.90493G>T (p.Asp30165Tyr)
c.89926G>T (p.Asp29976Tyr)
c.87268G>T (p.Asp29090Tyr)
c.87187G>T (p.Asp29063Tyr)
c.68950G>T (p.Asp22984Tyr)
c.58804G>T (p.Asp19602Tyr)
2g.178544089C>GCA349454207TTN,TTN-AS1c.88351G>C (p.Asp29451His)
c.69436G>C (p.Asp23146His)
c.69235G>C (p.Asp23079His)
c.68860G>C (p.Asp22954His)
c.96055G>C (p.Asp32019His)
c.91132G>C (p.Asp30378His)
n.446+20453C>G
n.2043+1728C>G
c.95152G>C (p.Asp31718His)
c.69046G>C (p.Asp23016His)
c.68905G>C (p.Asp22969His)
c.94948G>C (p.Asp31650His)
c.90346G>C (p.Asp30116His)
c.90343G>C (p.Asp30115His)
c.87385G>C (p.Asp29129His)
c.69001G>C (p.Asp23001His)
c.90496G>C (p.Asp30166His)
c.90493G>C (p.Asp30165His)
c.89926G>C (p.Asp29976His)
c.87268G>C (p.Asp29090His)
c.87187G>C (p.Asp29063His)
c.68950G>C (p.Asp22984His)
c.58804G>C (p.Asp19602His)
2g.178544089C>TCA349454208TTN,TTN-AS1c.88351G>A (p.Asp29451Asn)
c.69436G>A (p.Asp23146Asn)
c.69235G>A (p.Asp23079Asn)
c.68860G>A (p.Asp22954Asn)
c.96055G>A (p.Asp32019Asn)
c.91132G>A (p.Asp30378Asn)
n.446+20453C>T
n.2043+1728C>T
c.95152G>A (p.Asp31718Asn)
c.69046G>A (p.Asp23016Asn)
c.68905G>A (p.Asp22969Asn)
c.94948G>A (p.Asp31650Asn)
c.90346G>A (p.Asp30116Asn)
c.90343G>A (p.Asp30115Asn)
c.87385G>A (p.Asp29129Asn)
c.69001G>A (p.Asp23001Asn)
c.90496G>A (p.Asp30166Asn)
c.90493G>A (p.Asp30165Asn)
c.89926G>A (p.Asp29976Asn)
c.87268G>A (p.Asp29090Asn)
c.87187G>A (p.Asp29063Asn)
c.68950G>A (p.Asp22984Asn)
c.58804G>A (p.Asp19602Asn)
2g.178544090A=CA1310521322TTN,TTN-AS1c.88350T= (p.Asp29450=)
c.69435T= (p.Asp23145=)
c.69234T= (p.Asp23078=)
c.68859T= (p.Asp22953=)
c.96054T= (p.Asp32018=)
c.91131T= (p.Asp30377=)
n.446+20454A=
n.2043+1729A=
c.95151T= (p.Asp31717=)
c.69045T= (p.Asp23015=)
c.68904T= (p.Asp22968=)
c.94947T= (p.Asp31649=)
c.90345T= (p.Asp30115=)
c.90342T= (p.Asp30114=)
c.87384T= (p.Asp29128=)
c.69000T= (p.Asp23000=)
c.90495T= (p.Asp30165=)
c.90492T= (p.Asp30164=)
c.89925T= (p.Asp29975=)
c.87267T= (p.Asp29089=)
c.87186T= (p.Asp29062=)
c.68949T= (p.Asp22983=)
c.58803T= (p.Asp19601=)
2g.178544090A>CCA60970431TTN,TTN-AS1c.88350T>G (p.Asp29450Glu)
c.69435T>G (p.Asp23145Glu)
c.69234T>G (p.Asp23078Glu)
c.68859T>G (p.Asp22953Glu)
c.96054T>G (p.Asp32018Glu)
c.91131T>G (p.Asp30377Glu)
n.446+20454A>C
n.2043+1729A>C
c.95151T>G (p.Asp31717Glu)
c.69045T>G (p.Asp23015Glu)
c.68904T>G (p.Asp22968Glu)
c.94947T>G (p.Asp31649Glu)
c.90345T>G (p.Asp30115Glu)
c.90342T>G (p.Asp30114Glu)
c.87384T>G (p.Asp29128Glu)
c.69000T>G (p.Asp23000Glu)
c.90495T>G (p.Asp30165Glu)
c.90492T>G (p.Asp30164Glu)
c.89925T>G (p.Asp29975Glu)
c.87267T>G (p.Asp29089Glu)
c.87186T>G (p.Asp29062Glu)
c.68949T>G (p.Asp22983Glu)
c.58803T>G (p.Asp19601Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178544090A>GCA1986820TTN,TTN-AS1c.88350T>C (p.Asp29450=)
c.69435T>C (p.Asp23145=)
c.69234T>C (p.Asp23078=)
c.68859T>C (p.Asp22953=)
c.96054T>C (p.Asp32018=)
c.91131T>C (p.Asp30377=)
n.446+20454A>G
n.2043+1729A>G
c.95151T>C (p.Asp31717=)
c.69045T>C (p.Asp23015=)
c.68904T>C (p.Asp22968=)
c.94947T>C (p.Asp31649=)
c.90345T>C (p.Asp30115=)
c.90342T>C (p.Asp30114=)
c.87384T>C (p.Asp29128=)
c.69000T>C (p.Asp23000=)
c.90495T>C (p.Asp30165=)
c.90492T>C (p.Asp30164=)
c.89925T>C (p.Asp29975=)
c.87267T>C (p.Asp29089=)
c.87186T>C (p.Asp29062=)
c.68949T>C (p.Asp22983=)
c.58803T>C (p.Asp19601=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544090A>TCA349454209TTN,TTN-AS1c.88350T>A (p.Asp29450Glu)
c.69435T>A (p.Asp23145Glu)
c.69234T>A (p.Asp23078Glu)
c.68859T>A (p.Asp22953Glu)
c.96054T>A (p.Asp32018Glu)
c.91131T>A (p.Asp30377Glu)
n.446+20454A>T
n.2043+1729A>T
c.95151T>A (p.Asp31717Glu)
c.69045T>A (p.Asp23015Glu)
c.68904T>A (p.Asp22968Glu)
c.94947T>A (p.Asp31649Glu)
c.90345T>A (p.Asp30115Glu)
c.90342T>A (p.Asp30114Glu)
c.87384T>A (p.Asp29128Glu)
c.69000T>A (p.Asp23000Glu)
c.90495T>A (p.Asp30165Glu)
c.90492T>A (p.Asp30164Glu)
c.89925T>A (p.Asp29975Glu)
c.87267T>A (p.Asp29089Glu)
c.87186T>A (p.Asp29062Glu)
c.68949T>A (p.Asp22983Glu)
c.58803T>A (p.Asp19601Glu)
2g.178544091T>ACA349454220TTN,TTN-AS1c.88349A>T (p.Asp29450Val)
c.69434A>T (p.Asp23145Val)
c.69233A>T (p.Asp23078Val)
c.68858A>T (p.Asp22953Val)
c.96053A>T (p.Asp32018Val)
c.91130A>T (p.Asp30377Val)
n.446+20455T>A
n.2043+1730T>A
c.95150A>T (p.Asp31717Val)
c.69044A>T (p.Asp23015Val)
c.68903A>T (p.Asp22968Val)
c.94946A>T (p.Asp31649Val)
c.90344A>T (p.Asp30115Val)
c.90341A>T (p.Asp30114Val)
c.87383A>T (p.Asp29128Val)
c.68999A>T (p.Asp23000Val)
c.90494A>T (p.Asp30165Val)
c.90491A>T (p.Asp30164Val)
c.89924A>T (p.Asp29975Val)
c.87266A>T (p.Asp29089Val)
c.87185A>T (p.Asp29062Val)
c.68948A>T (p.Asp22983Val)
c.58802A>T (p.Asp19601Val)
2g.178544091T>CCA349454223TTN,TTN-AS1c.88349A>G (p.Asp29450Gly)
c.69434A>G (p.Asp23145Gly)
c.69233A>G (p.Asp23078Gly)
c.68858A>G (p.Asp22953Gly)
c.96053A>G (p.Asp32018Gly)
c.91130A>G (p.Asp30377Gly)
n.446+20455T>C
n.2043+1730T>C
c.95150A>G (p.Asp31717Gly)
c.69044A>G (p.Asp23015Gly)
c.68903A>G (p.Asp22968Gly)
c.94946A>G (p.Asp31649Gly)
c.90344A>G (p.Asp30115Gly)
c.90341A>G (p.Asp30114Gly)
c.87383A>G (p.Asp29128Gly)
c.68999A>G (p.Asp23000Gly)
c.90494A>G (p.Asp30165Gly)
c.90491A>G (p.Asp30164Gly)
c.89924A>G (p.Asp29975Gly)
c.87266A>G (p.Asp29089Gly)
c.87185A>G (p.Asp29062Gly)
c.68948A>G (p.Asp22983Gly)
c.58802A>G (p.Asp19601Gly)
2g.178544091T>GCA349454226TTN,TTN-AS1c.88349A>C (p.Asp29450Ala)
c.69434A>C (p.Asp23145Ala)
c.69233A>C (p.Asp23078Ala)
c.68858A>C (p.Asp22953Ala)
c.96053A>C (p.Asp32018Ala)
c.91130A>C (p.Asp30377Ala)
n.446+20455T>G
n.2043+1730T>G
c.95150A>C (p.Asp31717Ala)
c.69044A>C (p.Asp23015Ala)
c.68903A>C (p.Asp22968Ala)
c.94946A>C (p.Asp31649Ala)
c.90344A>C (p.Asp30115Ala)
c.90341A>C (p.Asp30114Ala)
c.87383A>C (p.Asp29128Ala)
c.68999A>C (p.Asp23000Ala)
c.90494A>C (p.Asp30165Ala)
c.90491A>C (p.Asp30164Ala)
c.89924A>C (p.Asp29975Ala)
c.87266A>C (p.Asp29089Ala)
c.87185A>C (p.Asp29062Ala)
c.68948A>C (p.Asp22983Ala)
c.58802A>C (p.Asp19601Ala)
2g.178544092C>ACA349454231TTN,TTN-AS1c.88348G>T (p.Asp29450Tyr)
c.69433G>T (p.Asp23145Tyr)
c.69232G>T (p.Asp23078Tyr)
c.68857G>T (p.Asp22953Tyr)
c.96052G>T (p.Asp32018Tyr)
c.91129G>T (p.Asp30377Tyr)
n.446+20456C>A
n.2043+1731C>A
c.95149G>T (p.Asp31717Tyr)
c.69043G>T (p.Asp23015Tyr)
c.68902G>T (p.Asp22968Tyr)
c.94945G>T (p.Asp31649Tyr)
c.90343G>T (p.Asp30115Tyr)
c.90340G>T (p.Asp30114Tyr)
c.87382G>T (p.Asp29128Tyr)
c.68998G>T (p.Asp23000Tyr)
c.90493G>T (p.Asp30165Tyr)
c.90490G>T (p.Asp30164Tyr)
c.89923G>T (p.Asp29975Tyr)
c.87265G>T (p.Asp29089Tyr)
c.87184G>T (p.Asp29062Tyr)
c.68947G>T (p.Asp22983Tyr)
c.58801G>T (p.Asp19601Tyr)
2g.178544092C=CA1310521324TTN,TTN-AS1c.88348G= (p.Asp29450=)
c.69433G= (p.Asp23145=)
c.69232G= (p.Asp23078=)
c.68857G= (p.Asp22953=)
c.96052G= (p.Asp32018=)
c.91129G= (p.Asp30377=)
n.446+20456C=
n.2043+1731C=
c.95149G= (p.Asp31717=)
c.69043G= (p.Asp23015=)
c.68902G= (p.Asp22968=)
c.94945G= (p.Asp31649=)
c.90343G= (p.Asp30115=)
c.90340G= (p.Asp30114=)
c.87382G= (p.Asp29128=)
c.68998G= (p.Asp23000=)
c.90493G= (p.Asp30165=)
c.90490G= (p.Asp30164=)
c.89923G= (p.Asp29975=)
c.87265G= (p.Asp29089=)
c.87184G= (p.Asp29062=)
c.68947G= (p.Asp22983=)
c.58801G= (p.Asp19601=)
2g.178544092C>GCA349454250TTN,TTN-AS1c.88348G>C (p.Asp29450His)
c.69433G>C (p.Asp23145His)
c.69232G>C (p.Asp23078His)
c.68857G>C (p.Asp22953His)
c.96052G>C (p.Asp32018His)
c.91129G>C (p.Asp30377His)
n.446+20456C>G
n.2043+1731C>G
c.95149G>C (p.Asp31717His)
c.69043G>C (p.Asp23015His)
c.68902G>C (p.Asp22968His)
c.94945G>C (p.Asp31649His)
c.90343G>C (p.Asp30115His)
c.90340G>C (p.Asp30114His)
c.87382G>C (p.Asp29128His)
c.68998G>C (p.Asp23000His)
c.90493G>C (p.Asp30165His)
c.90490G>C (p.Asp30164His)
c.89923G>C (p.Asp29975His)
c.87265G>C (p.Asp29089His)
c.87184G>C (p.Asp29062His)
c.68947G>C (p.Asp22983His)
c.58801G>C (p.Asp19601His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178544092C>TCA349454257TTN,TTN-AS1c.88348G>A (p.Asp29450Asn)
c.69433G>A (p.Asp23145Asn)
c.69232G>A (p.Asp23078Asn)
c.68857G>A (p.Asp22953Asn)
c.96052G>A (p.Asp32018Asn)
c.91129G>A (p.Asp30377Asn)
n.446+20456C>T
n.2043+1731C>T
c.95149G>A (p.Asp31717Asn)
c.69043G>A (p.Asp23015Asn)
c.68902G>A (p.Asp22968Asn)
c.94945G>A (p.Asp31649Asn)
c.90343G>A (p.Asp30115Asn)
c.90340G>A (p.Asp30114Asn)
c.87382G>A (p.Asp29128Asn)
c.68998G>A (p.Asp23000Asn)
c.90493G>A (p.Asp30165Asn)
c.90490G>A (p.Asp30164Asn)
c.89923G>A (p.Asp29975Asn)
c.87265G>A (p.Asp29089Asn)
c.87184G>A (p.Asp29062Asn)
c.68947G>A (p.Asp22983Asn)
c.58801G>A (p.Asp19601Asn)
2g.178544093T>ACA430241543TTN,TTN-AS1c.88347A>T (p.Ala29449=)
c.69432A>T (p.Ala23144=)
c.69231A>T (p.Ala23077=)
c.68856A>T (p.Ala22952=)
c.96051A>T (p.Ala32017=)
c.91128A>T (p.Ala30376=)
n.446+20457T>A
n.2043+1732T>A
c.95148A>T (p.Ala31716=)
c.69042A>T (p.Ala23014=)
c.68901A>T (p.Ala22967=)
c.94944A>T (p.Ala31648=)
c.90342A>T (p.Ala30114=)
c.90339A>T (p.Ala30113=)
c.87381A>T (p.Ala29127=)
c.68997A>T (p.Ala22999=)
c.90492A>T (p.Ala30164=)
c.90489A>T (p.Ala30163=)
c.89922A>T (p.Ala29974=)
c.87264A>T (p.Ala29088=)
c.87183A>T (p.Ala29061=)
c.68946A>T (p.Ala22982=)
c.58800A>T (p.Ala19600=)
2g.178544093T>CCA1986821TTN,TTN-AS1c.88347A>G (p.Ala29449=)
c.69432A>G (p.Ala23144=)
c.69231A>G (p.Ala23077=)
c.68856A>G (p.Ala22952=)
c.96051A>G (p.Ala32017=)
c.91128A>G (p.Ala30376=)
n.446+20457T>C
n.2043+1732T>C
c.95148A>G (p.Ala31716=)
c.69042A>G (p.Ala23014=)
c.68901A>G (p.Ala22967=)
c.94944A>G (p.Ala31648=)
c.90342A>G (p.Ala30114=)
c.90339A>G (p.Ala30113=)
c.87381A>G (p.Ala29127=)
c.68997A>G (p.Ala22999=)
c.90492A>G (p.Ala30164=)
c.90489A>G (p.Ala30163=)
c.89922A>G (p.Ala29974=)
c.87264A>G (p.Ala29088=)
c.87183A>G (p.Ala29061=)
c.68946A>G (p.Ala22982=)
c.58800A>G (p.Ala19600=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544093T>GCA430241546TTN,TTN-AS1c.88347A>C (p.Ala29449=)
c.69432A>C (p.Ala23144=)
c.69231A>C (p.Ala23077=)
c.68856A>C (p.Ala22952=)
c.96051A>C (p.Ala32017=)
c.91128A>C (p.Ala30376=)
n.446+20457T>G
n.2043+1732T>G
c.95148A>C (p.Ala31716=)
c.69042A>C (p.Ala23014=)
c.68901A>C (p.Ala22967=)
c.94944A>C (p.Ala31648=)
c.90342A>C (p.Ala30114=)
c.90339A>C (p.Ala30113=)
c.87381A>C (p.Ala29127=)
c.68997A>C (p.Ala22999=)
c.90492A>C (p.Ala30164=)
c.90489A>C (p.Ala30163=)
c.89922A>C (p.Ala29974=)
c.87264A>C (p.Ala29088=)
c.87183A>C (p.Ala29061=)
c.68946A>C (p.Ala22982=)
c.58800A>C (p.Ala19600=)
2g.178544093T=CA1310521327TTN,TTN-AS1c.88347A= (p.Ala29449=)
c.69432A= (p.Ala23144=)
c.69231A= (p.Ala23077=)
c.68856A= (p.Ala22952=)
c.96051A= (p.Ala32017=)
c.91128A= (p.Ala30376=)
n.446+20457T=
n.2043+1732T=
c.95148A= (p.Ala31716=)
c.69042A= (p.Ala23014=)
c.68901A= (p.Ala22967=)
c.94944A= (p.Ala31648=)
c.90342A= (p.Ala30114=)
c.90339A= (p.Ala30113=)
c.87381A= (p.Ala29127=)
c.68997A= (p.Ala22999=)
c.90492A= (p.Ala30164=)
c.90489A= (p.Ala30163=)
c.89922A= (p.Ala29974=)
c.87264A= (p.Ala29088=)
c.87183A= (p.Ala29061=)
c.68946A= (p.Ala22982=)
c.58800A= (p.Ala19600=)
2g.178544094G>ACA349454270TTN,TTN-AS1c.88346C>T (p.Ala29449Val)
c.69431C>T (p.Ala23144Val)
c.69230C>T (p.Ala23077Val)
c.68855C>T (p.Ala22952Val)
c.96050C>T (p.Ala32017Val)
c.91127C>T (p.Ala30376Val)
n.446+20458G>A
n.2043+1733G>A
c.95147C>T (p.Ala31716Val)
c.69041C>T (p.Ala23014Val)
c.68900C>T (p.Ala22967Val)
c.94943C>T (p.Ala31648Val)
c.90341C>T (p.Ala30114Val)
c.90338C>T (p.Ala30113Val)
c.87380C>T (p.Ala29127Val)
c.68996C>T (p.Ala22999Val)
c.90491C>T (p.Ala30164Val)
c.90488C>T (p.Ala30163Val)
c.89921C>T (p.Ala29974Val)
c.87263C>T (p.Ala29088Val)
c.87182C>T (p.Ala29061Val)
c.68945C>T (p.Ala22982Val)
c.58799C>T (p.Ala19600Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178544094G>CCA349454276TTN,TTN-AS1c.88346C>G (p.Ala29449Gly)
c.69431C>G (p.Ala23144Gly)
c.69230C>G (p.Ala23077Gly)
c.68855C>G (p.Ala22952Gly)
c.96050C>G (p.Ala32017Gly)
c.91127C>G (p.Ala30376Gly)
n.446+20458G>C
n.2043+1733G>C
c.95147C>G (p.Ala31716Gly)
c.69041C>G (p.Ala23014Gly)
c.68900C>G (p.Ala22967Gly)
c.94943C>G (p.Ala31648Gly)
c.90341C>G (p.Ala30114Gly)
c.90338C>G (p.Ala30113Gly)
c.87380C>G (p.Ala29127Gly)
c.68996C>G (p.Ala22999Gly)
c.90491C>G (p.Ala30164Gly)
c.90488C>G (p.Ala30163Gly)
c.89921C>G (p.Ala29974Gly)
c.87263C>G (p.Ala29088Gly)
c.87182C>G (p.Ala29061Gly)
c.68945C>G (p.Ala22982Gly)
c.58799C>G (p.Ala19600Gly)
2g.178544094G=CA1310521329TTN,TTN-AS1c.88346C= (p.Ala29449=)
c.69431C= (p.Ala23144=)
c.69230C= (p.Ala23077=)
c.68855C= (p.Ala22952=)
c.96050C= (p.Ala32017=)
c.91127C= (p.Ala30376=)
n.446+20458G=
n.2043+1733G=
c.95147C= (p.Ala31716=)
c.69041C= (p.Ala23014=)
c.68900C= (p.Ala22967=)
c.94943C= (p.Ala31648=)
c.90341C= (p.Ala30114=)
c.90338C= (p.Ala30113=)
c.87380C= (p.Ala29127=)
c.68996C= (p.Ala22999=)
c.90491C= (p.Ala30164=)
c.90488C= (p.Ala30163=)
c.89921C= (p.Ala29974=)
c.87263C= (p.Ala29088=)
c.87182C= (p.Ala29061=)
c.68945C= (p.Ala22982=)
c.58799C= (p.Ala19600=)
2g.178544094G>TCA349454279TTN,TTN-AS1c.88346C>A (p.Ala29449Glu)
c.69431C>A (p.Ala23144Glu)
c.69230C>A (p.Ala23077Glu)
c.68855C>A (p.Ala22952Glu)
c.96050C>A (p.Ala32017Glu)
c.91127C>A (p.Ala30376Glu)
n.446+20458G>T
n.2043+1733G>T
c.95147C>A (p.Ala31716Glu)
c.69041C>A (p.Ala23014Glu)
c.68900C>A (p.Ala22967Glu)
c.94943C>A (p.Ala31648Glu)
c.90341C>A (p.Ala30114Glu)
c.90338C>A (p.Ala30113Glu)
c.87380C>A (p.Ala29127Glu)
c.68996C>A (p.Ala22999Glu)
c.90491C>A (p.Ala30164Glu)
c.90488C>A (p.Ala30163Glu)
c.89921C>A (p.Ala29974Glu)
c.87263C>A (p.Ala29088Glu)
c.87182C>A (p.Ala29061Glu)
c.68945C>A (p.Ala22982Glu)
c.58799C>A (p.Ala19600Glu)
2g.178544095C>ACA349454293TTN,TTN-AS1c.88345G>T (p.Ala29449Ser)
c.69430G>T (p.Ala23144Ser)
c.69229G>T (p.Ala23077Ser)
c.68854G>T (p.Ala22952Ser)
c.96049G>T (p.Ala32017Ser)
c.91126G>T (p.Ala30376Ser)
n.446+20459C>A
n.2043+1734C>A
c.95146G>T (p.Ala31716Ser)
c.69040G>T (p.Ala23014Ser)
c.68899G>T (p.Ala22967Ser)
c.94942G>T (p.Ala31648Ser)
c.90340G>T (p.Ala30114Ser)
c.90337G>T (p.Ala30113Ser)
c.87379G>T (p.Ala29127Ser)
c.68995G>T (p.Ala22999Ser)
c.90490G>T (p.Ala30164Ser)
c.90487G>T (p.Ala30163Ser)
c.89920G>T (p.Ala29974Ser)
c.87262G>T (p.Ala29088Ser)
c.87181G>T (p.Ala29061Ser)
c.68944G>T (p.Ala22982Ser)
c.58798G>T (p.Ala19600Ser)
2g.178544095C>GCA349454294TTN,TTN-AS1c.88345G>C (p.Ala29449Pro)
c.69430G>C (p.Ala23144Pro)
c.69229G>C (p.Ala23077Pro)
c.68854G>C (p.Ala22952Pro)
c.96049G>C (p.Ala32017Pro)
c.91126G>C (p.Ala30376Pro)
n.446+20459C>G
n.2043+1734C>G
c.95146G>C (p.Ala31716Pro)
c.69040G>C (p.Ala23014Pro)
c.68899G>C (p.Ala22967Pro)
c.94942G>C (p.Ala31648Pro)
c.90340G>C (p.Ala30114Pro)
c.90337G>C (p.Ala30113Pro)
c.87379G>C (p.Ala29127Pro)
c.68995G>C (p.Ala22999Pro)
c.90490G>C (p.Ala30164Pro)
c.90487G>C (p.Ala30163Pro)
c.89920G>C (p.Ala29974Pro)
c.87262G>C (p.Ala29088Pro)
c.87181G>C (p.Ala29061Pro)
c.68944G>C (p.Ala22982Pro)
c.58798G>C (p.Ala19600Pro)
2g.178544095C>TCA349454289TTN,TTN-AS1c.88345G>A (p.Ala29449Thr)
c.69430G>A (p.Ala23144Thr)
c.69229G>A (p.Ala23077Thr)
c.68854G>A (p.Ala22952Thr)
c.96049G>A (p.Ala32017Thr)
c.91126G>A (p.Ala30376Thr)
n.446+20459C>T
n.2043+1734C>T
c.95146G>A (p.Ala31716Thr)
c.69040G>A (p.Ala23014Thr)
c.68899G>A (p.Ala22967Thr)
c.94942G>A (p.Ala31648Thr)
c.90340G>A (p.Ala30114Thr)
c.90337G>A (p.Ala30113Thr)
c.87379G>A (p.Ala29127Thr)
c.68995G>A (p.Ala22999Thr)
c.90490G>A (p.Ala30164Thr)
c.90487G>A (p.Ala30163Thr)
c.89920G>A (p.Ala29974Thr)
c.87262G>A (p.Ala29088Thr)
c.87181G>A (p.Ala29061Thr)
c.68944G>A (p.Ala22982Thr)
c.58798G>A (p.Ala19600Thr)
 ClinVar
2g.178544096A>CCA430241553TTN,TTN-AS1c.88344T>G (p.Leu29448=)
c.69429T>G (p.Leu23143=)
c.69228T>G (p.Leu23076=)
c.68853T>G (p.Leu22951=)
c.96048T>G (p.Leu32016=)
c.91125T>G (p.Leu30375=)
n.446+20460A>C
n.2043+1735A>C
c.95145T>G (p.Leu31715=)
c.69039T>G (p.Leu23013=)
c.68898T>G (p.Leu22966=)
c.94941T>G (p.Leu31647=)
c.90339T>G (p.Leu30113=)
c.90336T>G (p.Leu30112=)
c.87378T>G (p.Leu29126=)
c.68994T>G (p.Leu22998=)
c.90489T>G (p.Leu30163=)
c.90486T>G (p.Leu30162=)
c.89919T>G (p.Leu29973=)
c.87261T>G (p.Leu29087=)
c.87180T>G (p.Leu29060=)
c.68943T>G (p.Leu22981=)
c.58797T>G (p.Leu19599=)
2g.178544096A>GCA430241554TTN,TTN-AS1c.88344T>C (p.Leu29448=)
c.69429T>C (p.Leu23143=)
c.69228T>C (p.Leu23076=)
c.68853T>C (p.Leu22951=)
c.96048T>C (p.Leu32016=)
c.91125T>C (p.Leu30375=)
n.446+20460A>G
n.2043+1735A>G
c.95145T>C (p.Leu31715=)
c.69039T>C (p.Leu23013=)
c.68898T>C (p.Leu22966=)
c.94941T>C (p.Leu31647=)
c.90339T>C (p.Leu30113=)
c.90336T>C (p.Leu30112=)
c.87378T>C (p.Leu29126=)
c.68994T>C (p.Leu22998=)
c.90489T>C (p.Leu30163=)
c.90486T>C (p.Leu30162=)
c.89919T>C (p.Leu29973=)
c.87261T>C (p.Leu29087=)
c.87180T>C (p.Leu29060=)
c.68943T>C (p.Leu22981=)
c.58797T>C (p.Leu19599=)
 ClinVar
2g.178544096A>TCA430241555TTN,TTN-AS1c.88344T>A (p.Leu29448=)
c.69429T>A (p.Leu23143=)
c.69228T>A (p.Leu23076=)
c.68853T>A (p.Leu22951=)
c.96048T>A (p.Leu32016=)
c.91125T>A (p.Leu30375=)
n.446+20460A>T
n.2043+1735A>T
c.95145T>A (p.Leu31715=)
c.69039T>A (p.Leu23013=)
c.68898T>A (p.Leu22966=)
c.94941T>A (p.Leu31647=)
c.90339T>A (p.Leu30113=)
c.90336T>A (p.Leu30112=)
c.87378T>A (p.Leu29126=)
c.68994T>A (p.Leu22998=)
c.90489T>A (p.Leu30163=)
c.90486T>A (p.Leu30162=)
c.89919T>A (p.Leu29973=)
c.87261T>A (p.Leu29087=)
c.87180T>A (p.Leu29060=)
c.68943T>A (p.Leu22981=)
c.58797T>A (p.Leu19599=)
2g.178544097A>CCA349454296TTN,TTN-AS1c.88343T>G (p.Leu29448Arg)
c.69428T>G (p.Leu23143Arg)
c.69227T>G (p.Leu23076Arg)
c.68852T>G (p.Leu22951Arg)
c.96047T>G (p.Leu32016Arg)
c.91124T>G (p.Leu30375Arg)
n.446+20461A>C
n.2043+1736A>C
c.95144T>G (p.Leu31715Arg)
c.69038T>G (p.Leu23013Arg)
c.68897T>G (p.Leu22966Arg)
c.94940T>G (p.Leu31647Arg)
c.90338T>G (p.Leu30113Arg)
c.90335T>G (p.Leu30112Arg)
c.87377T>G (p.Leu29126Arg)
c.68993T>G (p.Leu22998Arg)
c.90488T>G (p.Leu30163Arg)
c.90485T>G (p.Leu30162Arg)
c.89918T>G (p.Leu29973Arg)
c.87260T>G (p.Leu29087Arg)
c.87179T>G (p.Leu29060Arg)
c.68942T>G (p.Leu22981Arg)
c.58796T>G (p.Leu19599Arg)
2g.178544097A>GCA349454297TTN,TTN-AS1c.88343T>C (p.Leu29448Pro)
c.69428T>C (p.Leu23143Pro)
c.69227T>C (p.Leu23076Pro)
c.68852T>C (p.Leu22951Pro)
c.96047T>C (p.Leu32016Pro)
c.91124T>C (p.Leu30375Pro)
n.446+20461A>G
n.2043+1736A>G
c.95144T>C (p.Leu31715Pro)
c.69038T>C (p.Leu23013Pro)
c.68897T>C (p.Leu22966Pro)
c.94940T>C (p.Leu31647Pro)
c.90338T>C (p.Leu30113Pro)
c.90335T>C (p.Leu30112Pro)
c.87377T>C (p.Leu29126Pro)
c.68993T>C (p.Leu22998Pro)
c.90488T>C (p.Leu30163Pro)
c.90485T>C (p.Leu30162Pro)
c.89918T>C (p.Leu29973Pro)
c.87260T>C (p.Leu29087Pro)
c.87179T>C (p.Leu29060Pro)
c.68942T>C (p.Leu22981Pro)
c.58796T>C (p.Leu19599Pro)
2g.178544097A>TCA349454298TTN,TTN-AS1c.88343T>A (p.Leu29448His)
c.69428T>A (p.Leu23143His)
c.69227T>A (p.Leu23076His)
c.68852T>A (p.Leu22951His)
c.96047T>A (p.Leu32016His)
c.91124T>A (p.Leu30375His)
n.446+20461A>T
n.2043+1736A>T
c.95144T>A (p.Leu31715His)
c.69038T>A (p.Leu23013His)
c.68897T>A (p.Leu22966His)
c.94940T>A (p.Leu31647His)
c.90338T>A (p.Leu30113His)
c.90335T>A (p.Leu30112His)
c.87377T>A (p.Leu29126His)
c.68993T>A (p.Leu22998His)
c.90488T>A (p.Leu30163His)
c.90485T>A (p.Leu30162His)
c.89918T>A (p.Leu29973His)
c.87260T>A (p.Leu29087His)
c.87179T>A (p.Leu29060His)
c.68942T>A (p.Leu22981His)
c.58796T>A (p.Leu19599His)
2g.178544098G>ACA349454299TTN,TTN-AS1c.88342C>T (p.Leu29448Phe)
c.69427C>T (p.Leu23143Phe)
c.69226C>T (p.Leu23076Phe)
c.68851C>T (p.Leu22951Phe)
c.96046C>T (p.Leu32016Phe)
c.91123C>T (p.Leu30375Phe)
n.446+20462G>A
n.2043+1737G>A
c.95143C>T (p.Leu31715Phe)
c.69037C>T (p.Leu23013Phe)
c.68896C>T (p.Leu22966Phe)
c.94939C>T (p.Leu31647Phe)
c.90337C>T (p.Leu30113Phe)
c.90334C>T (p.Leu30112Phe)
c.87376C>T (p.Leu29126Phe)
c.68992C>T (p.Leu22998Phe)
c.90487C>T (p.Leu30163Phe)
c.90484C>T (p.Leu30162Phe)
c.89917C>T (p.Leu29973Phe)
c.87259C>T (p.Leu29087Phe)
c.87178C>T (p.Leu29060Phe)
c.68941C>T (p.Leu22981Phe)
c.58795C>T (p.Leu19599Phe)
2g.178544098G>CCA349454301TTN,TTN-AS1c.88342C>G (p.Leu29448Val)
c.69427C>G (p.Leu23143Val)
c.69226C>G (p.Leu23076Val)
c.68851C>G (p.Leu22951Val)
c.96046C>G (p.Leu32016Val)
c.91123C>G (p.Leu30375Val)
n.446+20462G>C
n.2043+1737G>C
c.95143C>G (p.Leu31715Val)
c.69037C>G (p.Leu23013Val)
c.68896C>G (p.Leu22966Val)
c.94939C>G (p.Leu31647Val)
c.90337C>G (p.Leu30113Val)
c.90334C>G (p.Leu30112Val)
c.87376C>G (p.Leu29126Val)
c.68992C>G (p.Leu22998Val)
c.90487C>G (p.Leu30163Val)
c.90484C>G (p.Leu30162Val)
c.89917C>G (p.Leu29973Val)
c.87259C>G (p.Leu29087Val)
c.87178C>G (p.Leu29060Val)
c.68941C>G (p.Leu22981Val)
c.58795C>G (p.Leu19599Val)
2g.178544098G>TCA349454309TTN,TTN-AS1c.88342C>A (p.Leu29448Ile)
c.69427C>A (p.Leu23143Ile)
c.69226C>A (p.Leu23076Ile)
c.68851C>A (p.Leu22951Ile)
c.96046C>A (p.Leu32016Ile)
c.91123C>A (p.Leu30375Ile)
n.446+20462G>T
n.2043+1737G>T
c.95143C>A (p.Leu31715Ile)
c.69037C>A (p.Leu23013Ile)
c.68896C>A (p.Leu22966Ile)
c.94939C>A (p.Leu31647Ile)
c.90337C>A (p.Leu30113Ile)
c.90334C>A (p.Leu30112Ile)
c.87376C>A (p.Leu29126Ile)
c.68992C>A (p.Leu22998Ile)
c.90487C>A (p.Leu30163Ile)
c.90484C>A (p.Leu30162Ile)
c.89917C>A (p.Leu29973Ile)
c.87259C>A (p.Leu29087Ile)
c.87178C>A (p.Leu29060Ile)
c.68941C>A (p.Leu22981Ile)
c.58795C>A (p.Leu19599Ile)
2g.178544099C>ACA349454314TTN,TTN-AS1c.88341G>T (p.Glu29447Asp)
c.69426G>T (p.Glu23142Asp)
c.69225G>T (p.Glu23075Asp)
c.68850G>T (p.Glu22950Asp)
c.96045G>T (p.Glu32015Asp)
c.91122G>T (p.Glu30374Asp)
n.446+20463C>A
n.2043+1738C>A
c.95142G>T (p.Glu31714Asp)
c.69036G>T (p.Glu23012Asp)
c.68895G>T (p.Glu22965Asp)
c.94938G>T (p.Glu31646Asp)
c.90336G>T (p.Glu30112Asp)
c.90333G>T (p.Glu30111Asp)
c.87375G>T (p.Glu29125Asp)
c.68991G>T (p.Glu22997Asp)
c.90486G>T (p.Glu30162Asp)
c.90483G>T (p.Glu30161Asp)
c.89916G>T (p.Glu29972Asp)
c.87258G>T (p.Glu29086Asp)
c.87177G>T (p.Glu29059Asp)
c.68940G>T (p.Glu22980Asp)
c.58794G>T (p.Glu19598Asp)
 dbSNP
2g.178544099C=CA1310521331TTN,TTN-AS1c.88341G= (p.Glu29447=)
c.69426G= (p.Glu23142=)
c.69225G= (p.Glu23075=)
c.68850G= (p.Glu22950=)
c.96045G= (p.Glu32015=)
c.91122G= (p.Glu30374=)
n.446+20463C=
n.2043+1738C=
c.95142G= (p.Glu31714=)
c.69036G= (p.Glu23012=)
c.68895G= (p.Glu22965=)
c.94938G= (p.Glu31646=)
c.90336G= (p.Glu30112=)
c.90333G= (p.Glu30111=)
c.87375G= (p.Glu29125=)
c.68991G= (p.Glu22997=)
c.90486G= (p.Glu30162=)
c.90483G= (p.Glu30161=)
c.89916G= (p.Glu29972=)
c.87258G= (p.Glu29086=)
c.87177G= (p.Glu29059=)
c.68940G= (p.Glu22980=)
c.58794G= (p.Glu19598=)
2g.178544099C>GCA349454322TTN,TTN-AS1c.88341G>C (p.Glu29447Asp)
c.69426G>C (p.Glu23142Asp)
c.69225G>C (p.Glu23075Asp)
c.68850G>C (p.Glu22950Asp)
c.96045G>C (p.Glu32015Asp)
c.91122G>C (p.Glu30374Asp)
n.446+20463C>G
n.2043+1738C>G
c.95142G>C (p.Glu31714Asp)
c.69036G>C (p.Glu23012Asp)
c.68895G>C (p.Glu22965Asp)
c.94938G>C (p.Glu31646Asp)
c.90336G>C (p.Glu30112Asp)
c.90333G>C (p.Glu30111Asp)
c.87375G>C (p.Glu29125Asp)
c.68991G>C (p.Glu22997Asp)
c.90486G>C (p.Glu30162Asp)
c.90483G>C (p.Glu30161Asp)
c.89916G>C (p.Glu29972Asp)
c.87258G>C (p.Glu29086Asp)
c.87177G>C (p.Glu29059Asp)
c.68940G>C (p.Glu22980Asp)
c.58794G>C (p.Glu19598Asp)
2g.178544099C>TCA430241560TTN,TTN-AS1c.88341G>A (p.Glu29447=)
c.69426G>A (p.Glu23142=)
c.69225G>A (p.Glu23075=)
c.68850G>A (p.Glu22950=)
c.96045G>A (p.Glu32015=)
c.91122G>A (p.Glu30374=)
n.446+20463C>T
n.2043+1738C>T
c.95142G>A (p.Glu31714=)
c.69036G>A (p.Glu23012=)
c.68895G>A (p.Glu22965=)
c.94938G>A (p.Glu31646=)
c.90336G>A (p.Glu30112=)
c.90333G>A (p.Glu30111=)
c.87375G>A (p.Glu29125=)
c.68991G>A (p.Glu22997=)
c.90486G>A (p.Glu30162=)
c.90483G>A (p.Glu30161=)
c.89916G>A (p.Glu29972=)
c.87258G>A (p.Glu29086=)
c.87177G>A (p.Glu29059=)
c.68940G>A (p.Glu22980=)
c.58794G>A (p.Glu19598=)
2g.178544100T>ACA349454332TTN,TTN-AS1c.88340A>T (p.Glu29447Val)
c.69425A>T (p.Glu23142Val)
c.69224A>T (p.Glu23075Val)
c.68849A>T (p.Glu22950Val)
c.96044A>T (p.Glu32015Val)
c.91121A>T (p.Glu30374Val)
n.446+20464T>A
n.2043+1739T>A
c.95141A>T (p.Glu31714Val)
c.69035A>T (p.Glu23012Val)
c.68894A>T (p.Glu22965Val)
c.94937A>T (p.Glu31646Val)
c.90335A>T (p.Glu30112Val)
c.90332A>T (p.Glu30111Val)
c.87374A>T (p.Glu29125Val)
c.68990A>T (p.Glu22997Val)
c.90485A>T (p.Glu30162Val)
c.90482A>T (p.Glu30161Val)
c.89915A>T (p.Glu29972Val)
c.87257A>T (p.Glu29086Val)
c.87176A>T (p.Glu29059Val)
c.68939A>T (p.Glu22980Val)
c.58793A>T (p.Glu19598Val)
2g.178544100T>CCA349454338TTN,TTN-AS1c.88340A>G (p.Glu29447Gly)
c.69425A>G (p.Glu23142Gly)
c.69224A>G (p.Glu23075Gly)
c.68849A>G (p.Glu22950Gly)
c.96044A>G (p.Glu32015Gly)
c.91121A>G (p.Glu30374Gly)
n.446+20464T>C
n.2043+1739T>C
c.95141A>G (p.Glu31714Gly)
c.69035A>G (p.Glu23012Gly)
c.68894A>G (p.Glu22965Gly)
c.94937A>G (p.Glu31646Gly)
c.90335A>G (p.Glu30112Gly)
c.90332A>G (p.Glu30111Gly)
c.87374A>G (p.Glu29125Gly)
c.68990A>G (p.Glu22997Gly)
c.90485A>G (p.Glu30162Gly)
c.90482A>G (p.Glu30161Gly)
c.89915A>G (p.Glu29972Gly)
c.87257A>G (p.Glu29086Gly)
c.87176A>G (p.Glu29059Gly)
c.68939A>G (p.Glu22980Gly)
c.58793A>G (p.Glu19598Gly)
 gnomAD v4
2g.178544100T>GCA349454341TTN,TTN-AS1c.88340A>C (p.Glu29447Ala)
c.69425A>C (p.Glu23142Ala)
c.69224A>C (p.Glu23075Ala)
c.68849A>C (p.Glu22950Ala)
c.96044A>C (p.Glu32015Ala)
c.91121A>C (p.Glu30374Ala)
n.446+20464T>G
n.2043+1739T>G
c.95141A>C (p.Glu31714Ala)
c.69035A>C (p.Glu23012Ala)
c.68894A>C (p.Glu22965Ala)
c.94937A>C (p.Glu31646Ala)
c.90335A>C (p.Glu30112Ala)
c.90332A>C (p.Glu30111Ala)
c.87374A>C (p.Glu29125Ala)
c.68990A>C (p.Glu22997Ala)
c.90485A>C (p.Glu30162Ala)
c.90482A>C (p.Glu30161Ala)
c.89915A>C (p.Glu29972Ala)
c.87257A>C (p.Glu29086Ala)
c.87176A>C (p.Glu29059Ala)
c.68939A>C (p.Glu22980Ala)
c.58793A>C (p.Glu19598Ala)
2g.178544101C>ACA349454356TTN,TTN-AS1c.88339G>T (p.Glu29447Ter)
c.69424G>T (p.Glu23142Ter)
c.69223G>T (p.Glu23075Ter)
c.68848G>T (p.Glu22950Ter)
c.96043G>T (p.Glu32015Ter)
c.91120G>T (p.Glu30374Ter)
n.446+20465C>A
n.2043+1740C>A
c.95140G>T (p.Glu31714Ter)
c.69034G>T (p.Glu23012Ter)
c.68893G>T (p.Glu22965Ter)
c.94936G>T (p.Glu31646Ter)
c.90334G>T (p.Glu30112Ter)
c.90331G>T (p.Glu30111Ter)
c.87373G>T (p.Glu29125Ter)
c.68989G>T (p.Glu22997Ter)
c.90484G>T (p.Glu30162Ter)
c.90481G>T (p.Glu30161Ter)
c.89914G>T (p.Glu29972Ter)
c.87256G>T (p.Glu29086Ter)
c.87175G>T (p.Glu29059Ter)
c.68938G>T (p.Glu22980Ter)
c.58792G>T (p.Glu19598Ter)
2g.178544101C>GCA349454359TTN,TTN-AS1c.88339G>C (p.Glu29447Gln)
c.69424G>C (p.Glu23142Gln)
c.69223G>C (p.Glu23075Gln)
c.68848G>C (p.Glu22950Gln)
c.96043G>C (p.Glu32015Gln)
c.91120G>C (p.Glu30374Gln)
n.446+20465C>G
n.2043+1740C>G
c.95140G>C (p.Glu31714Gln)
c.69034G>C (p.Glu23012Gln)
c.68893G>C (p.Glu22965Gln)
c.94936G>C (p.Glu31646Gln)
c.90334G>C (p.Glu30112Gln)
c.90331G>C (p.Glu30111Gln)
c.87373G>C (p.Glu29125Gln)
c.68989G>C (p.Glu22997Gln)
c.90484G>C (p.Glu30162Gln)
c.90481G>C (p.Glu30161Gln)
c.89914G>C (p.Glu29972Gln)
c.87256G>C (p.Glu29086Gln)
c.87175G>C (p.Glu29059Gln)
c.68938G>C (p.Glu22980Gln)
c.58792G>C (p.Glu19598Gln)
2g.178544101C>TCA349454350TTN,TTN-AS1c.88339G>A (p.Glu29447Lys)
c.69424G>A (p.Glu23142Lys)
c.69223G>A (p.Glu23075Lys)
c.68848G>A (p.Glu22950Lys)
c.96043G>A (p.Glu32015Lys)
c.91120G>A (p.Glu30374Lys)
n.446+20465C>T
n.2043+1740C>T
c.95140G>A (p.Glu31714Lys)
c.69034G>A (p.Glu23012Lys)
c.68893G>A (p.Glu22965Lys)
c.94936G>A (p.Glu31646Lys)
c.90334G>A (p.Glu30112Lys)
c.90331G>A (p.Glu30111Lys)
c.87373G>A (p.Glu29125Lys)
c.68989G>A (p.Glu22997Lys)
c.90484G>A (p.Glu30162Lys)
c.90481G>A (p.Glu30161Lys)
c.89914G>A (p.Glu29972Lys)
c.87256G>A (p.Glu29086Lys)
c.87175G>A (p.Glu29059Lys)
c.68938G>A (p.Glu22980Lys)
c.58792G>A (p.Glu19598Lys)
2g.178544102A>CCA430241568TTN,TTN-AS1c.88338T>G (p.Leu29446=)
c.69423T>G (p.Leu23141=)
c.69222T>G (p.Leu23074=)
c.68847T>G (p.Leu22949=)
c.96042T>G (p.Leu32014=)
c.91119T>G (p.Leu30373=)
n.446+20466A>C
n.2043+1741A>C
c.95139T>G (p.Leu31713=)
c.69033T>G (p.Leu23011=)
c.68892T>G (p.Leu22964=)
c.94935T>G (p.Leu31645=)
c.90333T>G (p.Leu30111=)
c.90330T>G (p.Leu30110=)
c.87372T>G (p.Leu29124=)
c.68988T>G (p.Leu22996=)
c.90483T>G (p.Leu30161=)
c.90480T>G (p.Leu30160=)
c.89913T>G (p.Leu29971=)
c.87255T>G (p.Leu29085=)
c.87174T>G (p.Leu29058=)
c.68937T>G (p.Leu22979=)
c.58791T>G (p.Leu19597=)
 ClinVar dbSNP
2g.178544102A>GCA430241569TTN,TTN-AS1c.88338T>C (p.Leu29446=)
c.69423T>C (p.Leu23141=)
c.69222T>C (p.Leu23074=)
c.68847T>C (p.Leu22949=)
c.96042T>C (p.Leu32014=)
c.91119T>C (p.Leu30373=)
n.446+20466A>G
n.2043+1741A>G
c.95139T>C (p.Leu31713=)
c.69033T>C (p.Leu23011=)
c.68892T>C (p.Leu22964=)
c.94935T>C (p.Leu31645=)
c.90333T>C (p.Leu30111=)
c.90330T>C (p.Leu30110=)
c.87372T>C (p.Leu29124=)
c.68988T>C (p.Leu22996=)
c.90483T>C (p.Leu30161=)
c.90480T>C (p.Leu30160=)
c.89913T>C (p.Leu29971=)
c.87255T>C (p.Leu29085=)
c.87174T>C (p.Leu29058=)
c.68937T>C (p.Leu22979=)
c.58791T>C (p.Leu19597=)
2g.178544102A>TCA430241571TTN,TTN-AS1c.88338T>A (p.Leu29446=)
c.69423T>A (p.Leu23141=)
c.69222T>A (p.Leu23074=)
c.68847T>A (p.Leu22949=)
c.96042T>A (p.Leu32014=)
c.91119T>A (p.Leu30373=)
n.446+20466A>T
n.2043+1741A>T
c.95139T>A (p.Leu31713=)
c.69033T>A (p.Leu23011=)
c.68892T>A (p.Leu22964=)
c.94935T>A (p.Leu31645=)
c.90333T>A (p.Leu30111=)
c.90330T>A (p.Leu30110=)
c.87372T>A (p.Leu29124=)
c.68988T>A (p.Leu22996=)
c.90483T>A (p.Leu30161=)
c.90480T>A (p.Leu30160=)
c.89913T>A (p.Leu29971=)
c.87255T>A (p.Leu29085=)
c.87174T>A (p.Leu29058=)
c.68937T>A (p.Leu22979=)
c.58791T>A (p.Leu19597=)
2g.178544103A=CA1310521333TTN,TTN-AS1c.88337T= (p.Leu29446=)
c.69422T= (p.Leu23141=)
c.69221T= (p.Leu23074=)
c.68846T= (p.Leu22949=)
c.96041T= (p.Leu32014=)
c.91118T= (p.Leu30373=)
n.446+20467A=
n.2043+1742A=
c.95138T= (p.Leu31713=)
c.69032T= (p.Leu23011=)
c.68891T= (p.Leu22964=)
c.94934T= (p.Leu31645=)
c.90332T= (p.Leu30111=)
c.90329T= (p.Leu30110=)
c.87371T= (p.Leu29124=)
c.68987T= (p.Leu22996=)
c.90482T= (p.Leu30161=)
c.90479T= (p.Leu30160=)
c.89912T= (p.Leu29971=)
c.87254T= (p.Leu29085=)
c.87173T= (p.Leu29058=)
c.68936T= (p.Leu22979=)
c.58790T= (p.Leu19597=)
2g.178544103A>CCA349454367TTN,TTN-AS1c.88337T>G (p.Leu29446Arg)
c.69422T>G (p.Leu23141Arg)
c.69221T>G (p.Leu23074Arg)
c.68846T>G (p.Leu22949Arg)
c.96041T>G (p.Leu32014Arg)
c.91118T>G (p.Leu30373Arg)
n.446+20467A>C
n.2043+1742A>C
c.95138T>G (p.Leu31713Arg)
c.69032T>G (p.Leu23011Arg)
c.68891T>G (p.Leu22964Arg)
c.94934T>G (p.Leu31645Arg)
c.90332T>G (p.Leu30111Arg)
c.90329T>G (p.Leu30110Arg)
c.87371T>G (p.Leu29124Arg)
c.68987T>G (p.Leu22996Arg)
c.90482T>G (p.Leu30161Arg)
c.90479T>G (p.Leu30160Arg)
c.89912T>G (p.Leu29971Arg)
c.87254T>G (p.Leu29085Arg)
c.87173T>G (p.Leu29058Arg)
c.68936T>G (p.Leu22979Arg)
c.58790T>G (p.Leu19597Arg)
2g.178544103A>GCA1986822TTN,TTN-AS1c.88337T>C (p.Leu29446Pro)
c.69422T>C (p.Leu23141Pro)
c.69221T>C (p.Leu23074Pro)
c.68846T>C (p.Leu22949Pro)
c.96041T>C (p.Leu32014Pro)
c.91118T>C (p.Leu30373Pro)
n.446+20467A>G
n.2043+1742A>G
c.95138T>C (p.Leu31713Pro)
c.69032T>C (p.Leu23011Pro)
c.68891T>C (p.Leu22964Pro)
c.94934T>C (p.Leu31645Pro)
c.90332T>C (p.Leu30111Pro)
c.90329T>C (p.Leu30110Pro)
c.87371T>C (p.Leu29124Pro)
c.68987T>C (p.Leu22996Pro)
c.90482T>C (p.Leu30161Pro)
c.90479T>C (p.Leu30160Pro)
c.89912T>C (p.Leu29971Pro)
c.87254T>C (p.Leu29085Pro)
c.87173T>C (p.Leu29058Pro)
c.68936T>C (p.Leu22979Pro)
c.58790T>C (p.Leu19597Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544103A>TCA349454377TTN,TTN-AS1c.88337T>A (p.Leu29446His)
c.69422T>A (p.Leu23141His)
c.69221T>A (p.Leu23074His)
c.68846T>A (p.Leu22949His)
c.96041T>A (p.Leu32014His)
c.91118T>A (p.Leu30373His)
n.446+20467A>T
n.2043+1742A>T
c.95138T>A (p.Leu31713His)
c.69032T>A (p.Leu23011His)
c.68891T>A (p.Leu22964His)
c.94934T>A (p.Leu31645His)
c.90332T>A (p.Leu30111His)
c.90329T>A (p.Leu30110His)
c.87371T>A (p.Leu29124His)
c.68987T>A (p.Leu22996His)
c.90482T>A (p.Leu30161His)
c.90479T>A (p.Leu30160His)
c.89912T>A (p.Leu29971His)
c.87254T>A (p.Leu29085His)
c.87173T>A (p.Leu29058His)
c.68936T>A (p.Leu22979His)
c.58790T>A (p.Leu19597His)
2g.178544104G>ACA349454395TTN,TTN-AS1c.88336C>T (p.Leu29446Phe)
c.69421C>T (p.Leu23141Phe)
c.69220C>T (p.Leu23074Phe)
c.68845C>T (p.Leu22949Phe)
c.96040C>T (p.Leu32014Phe)
c.91117C>T (p.Leu30373Phe)
n.446+20468G>A
n.2043+1743G>A
c.95137C>T (p.Leu31713Phe)
c.69031C>T (p.Leu23011Phe)
c.68890C>T (p.Leu22964Phe)
c.94933C>T (p.Leu31645Phe)
c.90331C>T (p.Leu30111Phe)
c.90328C>T (p.Leu30110Phe)
c.87370C>T (p.Leu29124Phe)
c.68986C>T (p.Leu22996Phe)
c.90481C>T (p.Leu30161Phe)
c.90478C>T (p.Leu30160Phe)
c.89911C>T (p.Leu29971Phe)
c.87253C>T (p.Leu29085Phe)
c.87172C>T (p.Leu29058Phe)
c.68935C>T (p.Leu22979Phe)
c.58789C>T (p.Leu19597Phe)
2g.178544104G>CCA349454416TTN,TTN-AS1c.88336C>G (p.Leu29446Val)
c.69421C>G (p.Leu23141Val)
c.69220C>G (p.Leu23074Val)
c.68845C>G (p.Leu22949Val)
c.96040C>G (p.Leu32014Val)
c.91117C>G (p.Leu30373Val)
n.446+20468G>C
n.2043+1743G>C
c.95137C>G (p.Leu31713Val)
c.69031C>G (p.Leu23011Val)
c.68890C>G (p.Leu22964Val)
c.94933C>G (p.Leu31645Val)
c.90331C>G (p.Leu30111Val)
c.90328C>G (p.Leu30110Val)
c.87370C>G (p.Leu29124Val)
c.68986C>G (p.Leu22996Val)
c.90481C>G (p.Leu30161Val)
c.90478C>G (p.Leu30160Val)
c.89911C>G (p.Leu29971Val)
c.87253C>G (p.Leu29085Val)
c.87172C>G (p.Leu29058Val)
c.68935C>G (p.Leu22979Val)
c.58789C>G (p.Leu19597Val)
2g.178544104G>TCA349454418TTN,TTN-AS1c.88336C>A (p.Leu29446Ile)
c.69421C>A (p.Leu23141Ile)
c.69220C>A (p.Leu23074Ile)
c.68845C>A (p.Leu22949Ile)
c.96040C>A (p.Leu32014Ile)
c.91117C>A (p.Leu30373Ile)
n.446+20468G>T
n.2043+1743G>T
c.95137C>A (p.Leu31713Ile)
c.69031C>A (p.Leu23011Ile)
c.68890C>A (p.Leu22964Ile)
c.94933C>A (p.Leu31645Ile)
c.90331C>A (p.Leu30111Ile)
c.90328C>A (p.Leu30110Ile)
c.87370C>A (p.Leu29124Ile)
c.68986C>A (p.Leu22996Ile)
c.90481C>A (p.Leu30161Ile)
c.90478C>A (p.Leu30160Ile)
c.89911C>A (p.Leu29971Ile)
c.87253C>A (p.Leu29085Ile)
c.87172C>A (p.Leu29058Ile)
c.68935C>A (p.Leu22979Ile)
c.58789C>A (p.Leu19597Ile)
 COSMIC COSMIC COSMIC COSMIC
2g.178544105A=CA1310521335TTN,TTN-AS1c.88335T= (p.Asp29445=)
c.69420T= (p.Asp23140=)
c.69219T= (p.Asp23073=)
c.68844T= (p.Asp22948=)
c.96039T= (p.Asp32013=)
c.91116T= (p.Asp30372=)
n.446+20469A=
n.2043+1744A=
c.95136T= (p.Asp31712=)
c.69030T= (p.Asp23010=)
c.68889T= (p.Asp22963=)
c.94932T= (p.Asp31644=)
c.90330T= (p.Asp30110=)
c.90327T= (p.Asp30109=)
c.87369T= (p.Asp29123=)
c.68985T= (p.Asp22995=)
c.90480T= (p.Asp30160=)
c.90477T= (p.Asp30159=)
c.89910T= (p.Asp29970=)
c.87252T= (p.Asp29084=)
c.87171T= (p.Asp29057=)
c.68934T= (p.Asp22978=)
c.58788T= (p.Asp19596=)
2g.178544105A>CCA349454420TTN,TTN-AS1c.88335T>G (p.Asp29445Glu)
c.69420T>G (p.Asp23140Glu)
c.69219T>G (p.Asp23073Glu)
c.68844T>G (p.Asp22948Glu)
c.96039T>G (p.Asp32013Glu)
c.91116T>G (p.Asp30372Glu)
n.446+20469A>C
n.2043+1744A>C
c.95136T>G (p.Asp31712Glu)
c.69030T>G (p.Asp23010Glu)
c.68889T>G (p.Asp22963Glu)
c.94932T>G (p.Asp31644Glu)
c.90330T>G (p.Asp30110Glu)
c.90327T>G (p.Asp30109Glu)
c.87369T>G (p.Asp29123Glu)
c.68985T>G (p.Asp22995Glu)
c.90480T>G (p.Asp30160Glu)
c.90477T>G (p.Asp30159Glu)
c.89910T>G (p.Asp29970Glu)
c.87252T>G (p.Asp29084Glu)
c.87171T>G (p.Asp29057Glu)
c.68934T>G (p.Asp22978Glu)
c.58788T>G (p.Asp19596Glu)
2g.178544105A>GCA430241574TTN,TTN-AS1c.88335T>C (p.Asp29445=)
c.69420T>C (p.Asp23140=)
c.69219T>C (p.Asp23073=)
c.68844T>C (p.Asp22948=)
c.96039T>C (p.Asp32013=)
c.91116T>C (p.Asp30372=)
n.446+20469A>G
n.2043+1744A>G
c.95136T>C (p.Asp31712=)
c.69030T>C (p.Asp23010=)
c.68889T>C (p.Asp22963=)
c.94932T>C (p.Asp31644=)
c.90330T>C (p.Asp30110=)
c.90327T>C (p.Asp30109=)
c.87369T>C (p.Asp29123=)
c.68985T>C (p.Asp22995=)
c.90480T>C (p.Asp30160=)
c.90477T>C (p.Asp30159=)
c.89910T>C (p.Asp29970=)
c.87252T>C (p.Asp29084=)
c.87171T>C (p.Asp29057=)
c.68934T>C (p.Asp22978=)
c.58788T>C (p.Asp19596=)
 ClinVar dbSNP gnomAD v4
2g.178544105A>TCA349454429TTN,TTN-AS1c.88335T>A (p.Asp29445Glu)
c.69420T>A (p.Asp23140Glu)
c.69219T>A (p.Asp23073Glu)
c.68844T>A (p.Asp22948Glu)
c.96039T>A (p.Asp32013Glu)
c.91116T>A (p.Asp30372Glu)
n.446+20469A>T
n.2043+1744A>T
c.95136T>A (p.Asp31712Glu)
c.69030T>A (p.Asp23010Glu)
c.68889T>A (p.Asp22963Glu)
c.94932T>A (p.Asp31644Glu)
c.90330T>A (p.Asp30110Glu)
c.90327T>A (p.Asp30109Glu)
c.87369T>A (p.Asp29123Glu)
c.68985T>A (p.Asp22995Glu)
c.90480T>A (p.Asp30160Glu)
c.90477T>A (p.Asp30159Glu)
c.89910T>A (p.Asp29970Glu)
c.87252T>A (p.Asp29084Glu)
c.87171T>A (p.Asp29057Glu)
c.68934T>A (p.Asp22978Glu)
c.58788T>A (p.Asp19596Glu)
2g.178544106T>ACA349454432TTN,TTN-AS1c.88334A>T (p.Asp29445Val)
c.69419A>T (p.Asp23140Val)
c.69218A>T (p.Asp23073Val)
c.68843A>T (p.Asp22948Val)
c.96038A>T (p.Asp32013Val)
c.91115A>T (p.Asp30372Val)
n.446+20470T>A
n.2043+1745T>A
c.95135A>T (p.Asp31712Val)
c.69029A>T (p.Asp23010Val)
c.68888A>T (p.Asp22963Val)
c.94931A>T (p.Asp31644Val)
c.90329A>T (p.Asp30110Val)
c.90326A>T (p.Asp30109Val)
c.87368A>T (p.Asp29123Val)
c.68984A>T (p.Asp22995Val)
c.90479A>T (p.Asp30160Val)
c.90476A>T (p.Asp30159Val)
c.89909A>T (p.Asp29970Val)
c.87251A>T (p.Asp29084Val)
c.87170A>T (p.Asp29057Val)
c.68933A>T (p.Asp22978Val)
c.58787A>T (p.Asp19596Val)
2g.178544106T>CCA349454438TTN,TTN-AS1c.88334A>G (p.Asp29445Gly)
c.69419A>G (p.Asp23140Gly)
c.69218A>G (p.Asp23073Gly)
c.68843A>G (p.Asp22948Gly)
c.96038A>G (p.Asp32013Gly)
c.91115A>G (p.Asp30372Gly)
n.446+20470T>C
n.2043+1745T>C
c.95135A>G (p.Asp31712Gly)
c.69029A>G (p.Asp23010Gly)
c.68888A>G (p.Asp22963Gly)
c.94931A>G (p.Asp31644Gly)
c.90329A>G (p.Asp30110Gly)
c.90326A>G (p.Asp30109Gly)
c.87368A>G (p.Asp29123Gly)
c.68984A>G (p.Asp22995Gly)
c.90479A>G (p.Asp30160Gly)
c.90476A>G (p.Asp30159Gly)
c.89909A>G (p.Asp29970Gly)
c.87251A>G (p.Asp29084Gly)
c.87170A>G (p.Asp29057Gly)
c.68933A>G (p.Asp22978Gly)
c.58787A>G (p.Asp19596Gly)
2g.178544106T>GCA349454442TTN,TTN-AS1c.88334A>C (p.Asp29445Ala)
c.69419A>C (p.Asp23140Ala)
c.69218A>C (p.Asp23073Ala)
c.68843A>C (p.Asp22948Ala)
c.96038A>C (p.Asp32013Ala)
c.91115A>C (p.Asp30372Ala)
n.446+20470T>G
n.2043+1745T>G
c.95135A>C (p.Asp31712Ala)
c.69029A>C (p.Asp23010Ala)
c.68888A>C (p.Asp22963Ala)
c.94931A>C (p.Asp31644Ala)
c.90329A>C (p.Asp30110Ala)
c.90326A>C (p.Asp30109Ala)
c.87368A>C (p.Asp29123Ala)
c.68984A>C (p.Asp22995Ala)
c.90479A>C (p.Asp30160Ala)
c.90476A>C (p.Asp30159Ala)
c.89909A>C (p.Asp29970Ala)
c.87251A>C (p.Asp29084Ala)
c.87170A>C (p.Asp29057Ala)
c.68933A>C (p.Asp22978Ala)
c.58787A>C (p.Asp19596Ala)
2g.178544107C>ACA349454446TTN,TTN-AS1c.88333G>T (p.Asp29445Tyr)
c.69418G>T (p.Asp23140Tyr)
c.69217G>T (p.Asp23073Tyr)
c.68842G>T (p.Asp22948Tyr)
c.96037G>T (p.Asp32013Tyr)
c.91114G>T (p.Asp30372Tyr)
n.446+20471C>A
n.2043+1746C>A
c.95134G>T (p.Asp31712Tyr)
c.69028G>T (p.Asp23010Tyr)
c.68887G>T (p.Asp22963Tyr)
c.94930G>T (p.Asp31644Tyr)
c.90328G>T (p.Asp30110Tyr)
c.90325G>T (p.Asp30109Tyr)
c.87367G>T (p.Asp29123Tyr)
c.68983G>T (p.Asp22995Tyr)
c.90478G>T (p.Asp30160Tyr)
c.90475G>T (p.Asp30159Tyr)
c.89908G>T (p.Asp29970Tyr)
c.87250G>T (p.Asp29084Tyr)
c.87169G>T (p.Asp29057Tyr)
c.68932G>T (p.Asp22978Tyr)
c.58786G>T (p.Asp19596Tyr)
2g.178544107C=CA1310521338TTN,TTN-AS1c.88333G= (p.Asp29445=)
c.69418G= (p.Asp23140=)
c.69217G= (p.Asp23073=)
c.68842G= (p.Asp22948=)
c.96037G= (p.Asp32013=)
c.91114G= (p.Asp30372=)
n.446+20471C=
n.2043+1746C=
c.95134G= (p.Asp31712=)
c.69028G= (p.Asp23010=)
c.68887G= (p.Asp22963=)
c.94930G= (p.Asp31644=)
c.90328G= (p.Asp30110=)
c.90325G= (p.Asp30109=)
c.87367G= (p.Asp29123=)
c.68983G= (p.Asp22995=)
c.90478G= (p.Asp30160=)
c.90475G= (p.Asp30159=)
c.89908G= (p.Asp29970=)
c.87250G= (p.Asp29084=)
c.87169G= (p.Asp29057=)
c.68932G= (p.Asp22978=)
c.58786G= (p.Asp19596=)
2g.178544107C>GCA237680TTN,TTN-AS1c.88333G>C (p.Asp29445His)
c.69418G>C (p.Asp23140His)
c.69217G>C (p.Asp23073His)
c.68842G>C (p.Asp22948His)
c.96037G>C (p.Asp32013His)
c.91114G>C (p.Asp30372His)
n.446+20471C>G
n.2043+1746C>G
c.95134G>C (p.Asp31712His)
c.69028G>C (p.Asp23010His)
c.68887G>C (p.Asp22963His)
c.94930G>C (p.Asp31644His)
c.90328G>C (p.Asp30110His)
c.90325G>C (p.Asp30109His)
c.87367G>C (p.Asp29123His)
c.68983G>C (p.Asp22995His)
c.90478G>C (p.Asp30160His)
c.90475G>C (p.Asp30159His)
c.89908G>C (p.Asp29970His)
c.87250G>C (p.Asp29084His)
c.87169G>C (p.Asp29057His)
c.68932G>C (p.Asp22978His)
c.58786G>C (p.Asp19596His)
 ClinVar dbSNP
2g.178544107C>TCA349454452TTN,TTN-AS1c.88333G>A (p.Asp29445Asn)
c.69418G>A (p.Asp23140Asn)
c.69217G>A (p.Asp23073Asn)
c.68842G>A (p.Asp22948Asn)
c.96037G>A (p.Asp32013Asn)
c.91114G>A (p.Asp30372Asn)
n.446+20471C>T
n.2043+1746C>T
c.95134G>A (p.Asp31712Asn)
c.69028G>A (p.Asp23010Asn)
c.68887G>A (p.Asp22963Asn)
c.94930G>A (p.Asp31644Asn)
c.90328G>A (p.Asp30110Asn)
c.90325G>A (p.Asp30109Asn)
c.87367G>A (p.Asp29123Asn)
c.68983G>A (p.Asp22995Asn)
c.90478G>A (p.Asp30160Asn)
c.90475G>A (p.Asp30159Asn)
c.89908G>A (p.Asp29970Asn)
c.87250G>A (p.Asp29084Asn)
c.87169G>A (p.Asp29057Asn)
c.68932G>A (p.Asp22978Asn)
c.58786G>A (p.Asp19596Asn)
2g.178544108T>ACA430241582TTN,TTN-AS1c.88332A>T (p.Pro29444=)
c.69417A>T (p.Pro23139=)
c.69216A>T (p.Pro23072=)
c.68841A>T (p.Pro22947=)
c.96036A>T (p.Pro32012=)
c.91113A>T (p.Pro30371=)
n.446+20472T>A
n.2043+1747T>A
c.95133A>T (p.Pro31711=)
c.69027A>T (p.Pro23009=)
c.68886A>T (p.Pro22962=)
c.94929A>T (p.Pro31643=)
c.90327A>T (p.Pro30109=)
c.90324A>T (p.Pro30108=)
c.87366A>T (p.Pro29122=)
c.68982A>T (p.Pro22994=)
c.90477A>T (p.Pro30159=)
c.90474A>T (p.Pro30158=)
c.89907A>T (p.Pro29969=)
c.87249A>T (p.Pro29083=)
c.87168A>T (p.Pro29056=)
c.68931A>T (p.Pro22977=)
c.58785A>T (p.Pro19595=)
 ClinVar
2g.178544108T>CCA430241580TTN,TTN-AS1c.88332A>G (p.Pro29444=)
c.69417A>G (p.Pro23139=)
c.69216A>G (p.Pro23072=)
c.68841A>G (p.Pro22947=)
c.96036A>G (p.Pro32012=)
c.91113A>G (p.Pro30371=)
n.446+20472T>C
n.2043+1747T>C
c.95133A>G (p.Pro31711=)
c.69027A>G (p.Pro23009=)
c.68886A>G (p.Pro22962=)
c.94929A>G (p.Pro31643=)
c.90327A>G (p.Pro30109=)
c.90324A>G (p.Pro30108=)
c.87366A>G (p.Pro29122=)
c.68982A>G (p.Pro22994=)
c.90477A>G (p.Pro30159=)
c.90474A>G (p.Pro30158=)
c.89907A>G (p.Pro29969=)
c.87249A>G (p.Pro29083=)
c.87168A>G (p.Pro29056=)
c.68931A>G (p.Pro22977=)
c.58785A>G (p.Pro19595=)
2g.178544108T>GCA430241579TTN,TTN-AS1c.88332A>C (p.Pro29444=)
c.69417A>C (p.Pro23139=)
c.69216A>C (p.Pro23072=)
c.68841A>C (p.Pro22947=)
c.96036A>C (p.Pro32012=)
c.91113A>C (p.Pro30371=)
n.446+20472T>G
n.2043+1747T>G
c.95133A>C (p.Pro31711=)
c.69027A>C (p.Pro23009=)
c.68886A>C (p.Pro22962=)
c.94929A>C (p.Pro31643=)
c.90327A>C (p.Pro30109=)
c.90324A>C (p.Pro30108=)
c.87366A>C (p.Pro29122=)
c.68982A>C (p.Pro22994=)
c.90477A>C (p.Pro30159=)
c.90474A>C (p.Pro30158=)
c.89907A>C (p.Pro29969=)
c.87249A>C (p.Pro29083=)
c.87168A>C (p.Pro29056=)
c.68931A>C (p.Pro22977=)
c.58785A>C (p.Pro19595=)
2g.178544109G>ACA349454478TTN,TTN-AS1c.88331C>T (p.Pro29444Leu)
c.69416C>T (p.Pro23139Leu)
c.69215C>T (p.Pro23072Leu)
c.68840C>T (p.Pro22947Leu)
c.96035C>T (p.Pro32012Leu)
c.91112C>T (p.Pro30371Leu)
n.446+20473G>A
n.2043+1748G>A
c.95132C>T (p.Pro31711Leu)
c.69026C>T (p.Pro23009Leu)
c.68885C>T (p.Pro22962Leu)
c.94928C>T (p.Pro31643Leu)
c.90326C>T (p.Pro30109Leu)
c.90323C>T (p.Pro30108Leu)
c.87365C>T (p.Pro29122Leu)
c.68981C>T (p.Pro22994Leu)
c.90476C>T (p.Pro30159Leu)
c.90473C>T (p.Pro30158Leu)
c.89906C>T (p.Pro29969Leu)
c.87248C>T (p.Pro29083Leu)
c.87167C>T (p.Pro29056Leu)
c.68930C>T (p.Pro22977Leu)
c.58784C>T (p.Pro19595Leu)
 gnomAD v2 gnomAD v4
2g.178544109G>CCA349454483TTN,TTN-AS1c.88331C>G (p.Pro29444Arg)
c.69416C>G (p.Pro23139Arg)
c.69215C>G (p.Pro23072Arg)
c.68840C>G (p.Pro22947Arg)
c.96035C>G (p.Pro32012Arg)
c.91112C>G (p.Pro30371Arg)
n.446+20473G>C
n.2043+1748G>C
c.95132C>G (p.Pro31711Arg)
c.69026C>G (p.Pro23009Arg)
c.68885C>G (p.Pro22962Arg)
c.94928C>G (p.Pro31643Arg)
c.90326C>G (p.Pro30109Arg)
c.90323C>G (p.Pro30108Arg)
c.87365C>G (p.Pro29122Arg)
c.68981C>G (p.Pro22994Arg)
c.90476C>G (p.Pro30159Arg)
c.90473C>G (p.Pro30158Arg)
c.89906C>G (p.Pro29969Arg)
c.87248C>G (p.Pro29083Arg)
c.87167C>G (p.Pro29056Arg)
c.68930C>G (p.Pro22977Arg)
c.58784C>G (p.Pro19595Arg)
2g.178544109G>TCA349454467TTN,TTN-AS1c.88331C>A (p.Pro29444Gln)
c.69416C>A (p.Pro23139Gln)
c.69215C>A (p.Pro23072Gln)
c.68840C>A (p.Pro22947Gln)
c.96035C>A (p.Pro32012Gln)
c.91112C>A (p.Pro30371Gln)
n.446+20473G>T
n.2043+1748G>T
c.95132C>A (p.Pro31711Gln)
c.69026C>A (p.Pro23009Gln)
c.68885C>A (p.Pro22962Gln)
c.94928C>A (p.Pro31643Gln)
c.90326C>A (p.Pro30109Gln)
c.90323C>A (p.Pro30108Gln)
c.87365C>A (p.Pro29122Gln)
c.68981C>A (p.Pro22994Gln)
c.90476C>A (p.Pro30159Gln)
c.90473C>A (p.Pro30158Gln)
c.89906C>A (p.Pro29969Gln)
c.87248C>A (p.Pro29083Gln)
c.87167C>A (p.Pro29056Gln)
c.68930C>A (p.Pro22977Gln)
c.58784C>A (p.Pro19595Gln)
2g.178544110G>ACA349454491TTN,TTN-AS1c.88330C>T (p.Pro29444Ser)
c.69415C>T (p.Pro23139Ser)
c.69214C>T (p.Pro23072Ser)
c.68839C>T (p.Pro22947Ser)
c.96034C>T (p.Pro32012Ser)
c.91111C>T (p.Pro30371Ser)
n.446+20474G>A
n.2043+1749G>A
c.95131C>T (p.Pro31711Ser)
c.69025C>T (p.Pro23009Ser)
c.68884C>T (p.Pro22962Ser)
c.94927C>T (p.Pro31643Ser)
c.90325C>T (p.Pro30109Ser)
c.90322C>T (p.Pro30108Ser)
c.87364C>T (p.Pro29122Ser)
c.68980C>T (p.Pro22994Ser)
c.90475C>T (p.Pro30159Ser)
c.90472C>T (p.Pro30158Ser)
c.89905C>T (p.Pro29969Ser)
c.87247C>T (p.Pro29083Ser)
c.87166C>T (p.Pro29056Ser)
c.68929C>T (p.Pro22977Ser)
c.58783C>T (p.Pro19595Ser)
2g.178544110G>CCA349454484TTN,TTN-AS1c.88330C>G (p.Pro29444Ala)
c.69415C>G (p.Pro23139Ala)
c.69214C>G (p.Pro23072Ala)
c.68839C>G (p.Pro22947Ala)
c.96034C>G (p.Pro32012Ala)
c.91111C>G (p.Pro30371Ala)
n.446+20474G>C
n.2043+1749G>C
c.95131C>G (p.Pro31711Ala)
c.69025C>G (p.Pro23009Ala)
c.68884C>G (p.Pro22962Ala)
c.94927C>G (p.Pro31643Ala)
c.90325C>G (p.Pro30109Ala)
c.90322C>G (p.Pro30108Ala)
c.87364C>G (p.Pro29122Ala)
c.68980C>G (p.Pro22994Ala)
c.90475C>G (p.Pro30159Ala)
c.90472C>G (p.Pro30158Ala)
c.89905C>G (p.Pro29969Ala)
c.87247C>G (p.Pro29083Ala)
c.87166C>G (p.Pro29056Ala)
c.68929C>G (p.Pro22977Ala)
c.58783C>G (p.Pro19595Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178544110G=CA1310521340TTN,TTN-AS1c.88330C= (p.Pro29444=)
c.69415C= (p.Pro23139=)
c.69214C= (p.Pro23072=)
c.68839C= (p.Pro22947=)
c.96034C= (p.Pro32012=)
c.91111C= (p.Pro30371=)
n.446+20474G=
n.2043+1749G=
c.95131C= (p.Pro31711=)
c.69025C= (p.Pro23009=)
c.68884C= (p.Pro22962=)
c.94927C= (p.Pro31643=)
c.90325C= (p.Pro30109=)
c.90322C= (p.Pro30108=)
c.87364C= (p.Pro29122=)
c.68980C= (p.Pro22994=)
c.90475C= (p.Pro30159=)
c.90472C= (p.Pro30158=)
c.89905C= (p.Pro29969=)
c.87247C= (p.Pro29083=)
c.87166C= (p.Pro29056=)
c.68929C= (p.Pro22977=)
c.58783C= (p.Pro19595=)
2g.178544110G>TCA349454485TTN,TTN-AS1c.88330C>A (p.Pro29444Thr)
c.69415C>A (p.Pro23139Thr)
c.69214C>A (p.Pro23072Thr)
c.68839C>A (p.Pro22947Thr)
c.96034C>A (p.Pro32012Thr)
c.91111C>A (p.Pro30371Thr)
n.446+20474G>T
n.2043+1749G>T
c.95131C>A (p.Pro31711Thr)
c.69025C>A (p.Pro23009Thr)
c.68884C>A (p.Pro22962Thr)
c.94927C>A (p.Pro31643Thr)
c.90325C>A (p.Pro30109Thr)
c.90322C>A (p.Pro30108Thr)
c.87364C>A (p.Pro29122Thr)
c.68980C>A (p.Pro22994Thr)
c.90475C>A (p.Pro30159Thr)
c.90472C>A (p.Pro30158Thr)
c.89905C>A (p.Pro29969Thr)
c.87247C>A (p.Pro29083Thr)
c.87166C>A (p.Pro29056Thr)
c.68929C>A (p.Pro22977Thr)
c.58783C>A (p.Pro19595Thr)
2g.178544111T>ACA430241586TTN,TTN-AS1c.88329A>T (p.Ile29443=)
c.69414A>T (p.Ile23138=)
c.69213A>T (p.Ile23071=)
c.68838A>T (p.Ile22946=)
c.96033A>T (p.Ile32011=)
c.91110A>T (p.Ile30370=)
n.446+20475T>A
n.2043+1750T>A
c.95130A>T (p.Ile31710=)
c.69024A>T (p.Ile23008=)
c.68883A>T (p.Ile22961=)
c.94926A>T (p.Ile31642=)
c.90324A>T (p.Ile30108=)
c.90321A>T (p.Ile30107=)
c.87363A>T (p.Ile29121=)
c.68979A>T (p.Ile22993=)
c.90474A>T (p.Ile30158=)
c.90471A>T (p.Ile30157=)
c.89904A>T (p.Ile29968=)
c.87246A>T (p.Ile29082=)
c.87165A>T (p.Ile29055=)
c.68928A>T (p.Ile22976=)
c.58782A>T (p.Ile19594=)
2g.178544111T>CCA349454495TTN,TTN-AS1c.88329A>G (p.Ile29443Met)
c.69414A>G (p.Ile23138Met)
c.69213A>G (p.Ile23071Met)
c.68838A>G (p.Ile22946Met)
c.96033A>G (p.Ile32011Met)
c.91110A>G (p.Ile30370Met)
n.446+20475T>C
n.2043+1750T>C
c.95130A>G (p.Ile31710Met)
c.69024A>G (p.Ile23008Met)
c.68883A>G (p.Ile22961Met)
c.94926A>G (p.Ile31642Met)
c.90324A>G (p.Ile30108Met)
c.90321A>G (p.Ile30107Met)
c.87363A>G (p.Ile29121Met)
c.68979A>G (p.Ile22993Met)
c.90474A>G (p.Ile30158Met)
c.90471A>G (p.Ile30157Met)
c.89904A>G (p.Ile29968Met)
c.87246A>G (p.Ile29082Met)
c.87165A>G (p.Ile29055Met)
c.68928A>G (p.Ile22976Met)
c.58782A>G (p.Ile19594Met)
2g.178544111T>GCA430241588TTN,TTN-AS1c.88329A>C (p.Ile29443=)
c.69414A>C (p.Ile23138=)
c.69213A>C (p.Ile23071=)
c.68838A>C (p.Ile22946=)
c.96033A>C (p.Ile32011=)
c.91110A>C (p.Ile30370=)
n.446+20475T>G
n.2043+1750T>G
c.95130A>C (p.Ile31710=)
c.69024A>C (p.Ile23008=)
c.68883A>C (p.Ile22961=)
c.94926A>C (p.Ile31642=)
c.90324A>C (p.Ile30108=)
c.90321A>C (p.Ile30107=)
c.87363A>C (p.Ile29121=)
c.68979A>C (p.Ile22993=)
c.90474A>C (p.Ile30158=)
c.90471A>C (p.Ile30157=)
c.89904A>C (p.Ile29968=)
c.87246A>C (p.Ile29082=)
c.87165A>C (p.Ile29055=)
c.68928A>C (p.Ile22976=)
c.58782A>C (p.Ile19594=)
2g.178544112A=CA1310521341TTN,TTN-AS1c.88328T= (p.Ile29443=)
c.69413T= (p.Ile23138=)
c.69212T= (p.Ile23071=)
c.68837T= (p.Ile22946=)
c.96032T= (p.Ile32011=)
c.91109T= (p.Ile30370=)
n.446+20476A=
n.2043+1751A=
c.95129T= (p.Ile31710=)
c.69023T= (p.Ile23008=)
c.68882T= (p.Ile22961=)
c.94925T= (p.Ile31642=)
c.90323T= (p.Ile30108=)
c.90320T= (p.Ile30107=)
c.87362T= (p.Ile29121=)
c.68978T= (p.Ile22993=)
c.90473T= (p.Ile30158=)
c.90470T= (p.Ile30157=)
c.89903T= (p.Ile29968=)
c.87245T= (p.Ile29082=)
c.87164T= (p.Ile29055=)
c.68927T= (p.Ile22976=)
c.58781T= (p.Ile19594=)
2g.178544112A>CCA349454496TTN,TTN-AS1c.88328T>G (p.Ile29443Arg)
c.69413T>G (p.Ile23138Arg)
c.69212T>G (p.Ile23071Arg)
c.68837T>G (p.Ile22946Arg)
c.96032T>G (p.Ile32011Arg)
c.91109T>G (p.Ile30370Arg)
n.446+20476A>C
n.2043+1751A>C
c.95129T>G (p.Ile31710Arg)
c.69023T>G (p.Ile23008Arg)
c.68882T>G (p.Ile22961Arg)
c.94925T>G (p.Ile31642Arg)
c.90323T>G (p.Ile30108Arg)
c.90320T>G (p.Ile30107Arg)
c.87362T>G (p.Ile29121Arg)
c.68978T>G (p.Ile22993Arg)
c.90473T>G (p.Ile30158Arg)
c.90470T>G (p.Ile30157Arg)
c.89903T>G (p.Ile29968Arg)
c.87245T>G (p.Ile29082Arg)
c.87164T>G (p.Ile29055Arg)
c.68927T>G (p.Ile22976Arg)
c.58781T>G (p.Ile19594Arg)
2g.178544112A>GCA1986823TTN,TTN-AS1c.88328T>C (p.Ile29443Thr)
c.69413T>C (p.Ile23138Thr)
c.69212T>C (p.Ile23071Thr)
c.68837T>C (p.Ile22946Thr)
c.96032T>C (p.Ile32011Thr)
c.91109T>C (p.Ile30370Thr)
n.446+20476A>G
n.2043+1751A>G
c.95129T>C (p.Ile31710Thr)
c.69023T>C (p.Ile23008Thr)
c.68882T>C (p.Ile22961Thr)
c.94925T>C (p.Ile31642Thr)
c.90323T>C (p.Ile30108Thr)
c.90320T>C (p.Ile30107Thr)
c.87362T>C (p.Ile29121Thr)
c.68978T>C (p.Ile22993Thr)
c.90473T>C (p.Ile30158Thr)
c.90470T>C (p.Ile30157Thr)
c.89903T>C (p.Ile29968Thr)
c.87245T>C (p.Ile29082Thr)
c.87164T>C (p.Ile29055Thr)
c.68927T>C (p.Ile22976Thr)
c.58781T>C (p.Ile19594Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544112A>TCA349454497TTN,TTN-AS1c.88328T>A (p.Ile29443Lys)
c.69413T>A (p.Ile23138Lys)
c.69212T>A (p.Ile23071Lys)
c.68837T>A (p.Ile22946Lys)
c.96032T>A (p.Ile32011Lys)
c.91109T>A (p.Ile30370Lys)
n.446+20476A>T
n.2043+1751A>T
c.95129T>A (p.Ile31710Lys)
c.69023T>A (p.Ile23008Lys)
c.68882T>A (p.Ile22961Lys)
c.94925T>A (p.Ile31642Lys)
c.90323T>A (p.Ile30108Lys)
c.90320T>A (p.Ile30107Lys)
c.87362T>A (p.Ile29121Lys)
c.68978T>A (p.Ile22993Lys)
c.90473T>A (p.Ile30158Lys)
c.90470T>A (p.Ile30157Lys)
c.89903T>A (p.Ile29968Lys)
c.87245T>A (p.Ile29082Lys)
c.87164T>A (p.Ile29055Lys)
c.68927T>A (p.Ile22976Lys)
c.58781T>A (p.Ile19594Lys)
2g.178544113T>ACA349454499TTN,TTN-AS1c.88327A>T (p.Ile29443Leu)
c.69412A>T (p.Ile23138Leu)
c.69211A>T (p.Ile23071Leu)
c.68836A>T (p.Ile22946Leu)
c.96031A>T (p.Ile32011Leu)
c.91108A>T (p.Ile30370Leu)
n.446+20477T>A
n.2043+1752T>A
c.95128A>T (p.Ile31710Leu)
c.69022A>T (p.Ile23008Leu)
c.68881A>T (p.Ile22961Leu)
c.94924A>T (p.Ile31642Leu)
c.90322A>T (p.Ile30108Leu)
c.90319A>T (p.Ile30107Leu)
c.87361A>T (p.Ile29121Leu)
c.68977A>T (p.Ile22993Leu)
c.90472A>T (p.Ile30158Leu)
c.90469A>T (p.Ile30157Leu)
c.89902A>T (p.Ile29968Leu)
c.87244A>T (p.Ile29082Leu)
c.87163A>T (p.Ile29055Leu)
c.68926A>T (p.Ile22976Leu)
c.58780A>T (p.Ile19594Leu)
2g.178544113T>CCA349454500TTN,TTN-AS1c.88327A>G (p.Ile29443Val)
c.69412A>G (p.Ile23138Val)
c.69211A>G (p.Ile23071Val)
c.68836A>G (p.Ile22946Val)
c.96031A>G (p.Ile32011Val)
c.91108A>G (p.Ile30370Val)
n.446+20477T>C
n.2043+1752T>C
c.95128A>G (p.Ile31710Val)
c.69022A>G (p.Ile23008Val)
c.68881A>G (p.Ile22961Val)
c.94924A>G (p.Ile31642Val)
c.90322A>G (p.Ile30108Val)
c.90319A>G (p.Ile30107Val)
c.87361A>G (p.Ile29121Val)
c.68977A>G (p.Ile22993Val)
c.90472A>G (p.Ile30158Val)
c.90469A>G (p.Ile30157Val)
c.89902A>G (p.Ile29968Val)
c.87244A>G (p.Ile29082Val)
c.87163A>G (p.Ile29055Val)
c.68926A>G (p.Ile22976Val)
c.58780A>G (p.Ile19594Val)
2g.178544113T>GCA349454502TTN,TTN-AS1c.88327A>C (p.Ile29443Leu)
c.69412A>C (p.Ile23138Leu)
c.69211A>C (p.Ile23071Leu)
c.68836A>C (p.Ile22946Leu)
c.96031A>C (p.Ile32011Leu)
c.91108A>C (p.Ile30370Leu)
n.446+20477T>G
n.2043+1752T>G
c.95128A>C (p.Ile31710Leu)
c.69022A>C (p.Ile23008Leu)
c.68881A>C (p.Ile22961Leu)
c.94924A>C (p.Ile31642Leu)
c.90322A>C (p.Ile30108Leu)
c.90319A>C (p.Ile30107Leu)
c.87361A>C (p.Ile29121Leu)
c.68977A>C (p.Ile22993Leu)
c.90472A>C (p.Ile30158Leu)
c.90469A>C (p.Ile30157Leu)
c.89902A>C (p.Ile29968Leu)
c.87244A>C (p.Ile29082Leu)
c.87163A>C (p.Ile29055Leu)
c.68926A>C (p.Ile22976Leu)
c.58780A>C (p.Ile19594Leu)
2g.178544114T>ACA349454506TTN,TTN-AS1c.88326A>T (p.Glu29442Asp)
c.69411A>T (p.Glu23137Asp)
c.69210A>T (p.Glu23070Asp)
c.68835A>T (p.Glu22945Asp)
c.96030A>T (p.Glu32010Asp)
c.91107A>T (p.Glu30369Asp)
n.446+20478T>A
n.2043+1753T>A
c.95127A>T (p.Glu31709Asp)
c.69021A>T (p.Glu23007Asp)
c.68880A>T (p.Glu22960Asp)
c.94923A>T (p.Glu31641Asp)
c.90321A>T (p.Glu30107Asp)
c.90318A>T (p.Glu30106Asp)
c.87360A>T (p.Glu29120Asp)
c.68976A>T (p.Glu22992Asp)
c.90471A>T (p.Glu30157Asp)
c.90468A>T (p.Glu30156Asp)
c.89901A>T (p.Glu29967Asp)
c.87243A>T (p.Glu29081Asp)
c.87162A>T (p.Glu29054Asp)
c.68925A>T (p.Glu22975Asp)
c.58779A>T (p.Glu19593Asp)
2g.178544114T>CCA1986824TTN,TTN-AS1c.88326A>G (p.Glu29442=)
c.69411A>G (p.Glu23137=)
c.69210A>G (p.Glu23070=)
c.68835A>G (p.Glu22945=)
c.96030A>G (p.Glu32010=)
c.91107A>G (p.Glu30369=)
n.446+20478T>C
n.2043+1753T>C
c.95127A>G (p.Glu31709=)
c.69021A>G (p.Glu23007=)
c.68880A>G (p.Glu22960=)
c.94923A>G (p.Glu31641=)
c.90321A>G (p.Glu30107=)
c.90318A>G (p.Glu30106=)
c.87360A>G (p.Glu29120=)
c.68976A>G (p.Glu22992=)
c.90471A>G (p.Glu30157=)
c.90468A>G (p.Glu30156=)
c.89901A>G (p.Glu29967=)
c.87243A>G (p.Glu29081=)
c.87162A>G (p.Glu29054=)
c.68925A>G (p.Glu22975=)
c.58779A>G (p.Glu19593=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544114T>GCA349454533TTN,TTN-AS1c.88326A>C (p.Glu29442Asp)
c.69411A>C (p.Glu23137Asp)
c.69210A>C (p.Glu23070Asp)
c.68835A>C (p.Glu22945Asp)
c.96030A>C (p.Glu32010Asp)
c.91107A>C (p.Glu30369Asp)
n.446+20478T>G
n.2043+1753T>G
c.95127A>C (p.Glu31709Asp)
c.69021A>C (p.Glu23007Asp)
c.68880A>C (p.Glu22960Asp)
c.94923A>C (p.Glu31641Asp)
c.90321A>C (p.Glu30107Asp)
c.90318A>C (p.Glu30106Asp)
c.87360A>C (p.Glu29120Asp)
c.68976A>C (p.Glu22992Asp)
c.90471A>C (p.Glu30157Asp)
c.90468A>C (p.Glu30156Asp)
c.89901A>C (p.Glu29967Asp)
c.87243A>C (p.Glu29081Asp)
c.87162A>C (p.Glu29054Asp)
c.68925A>C (p.Glu22975Asp)
c.58779A>C (p.Glu19593Asp)
2g.178544114T=CA1310521343TTN,TTN-AS1c.88326A= (p.Glu29442=)
c.69411A= (p.Glu23137=)
c.69210A= (p.Glu23070=)
c.68835A= (p.Glu22945=)
c.96030A= (p.Glu32010=)
c.91107A= (p.Glu30369=)
n.446+20478T=
n.2043+1753T=
c.95127A= (p.Glu31709=)
c.69021A= (p.Glu23007=)
c.68880A= (p.Glu22960=)
c.94923A= (p.Glu31641=)
c.90321A= (p.Glu30107=)
c.90318A= (p.Glu30106=)
c.87360A= (p.Glu29120=)
c.68976A= (p.Glu22992=)
c.90471A= (p.Glu30157=)
c.90468A= (p.Glu30156=)
c.89901A= (p.Glu29967=)
c.87243A= (p.Glu29081=)
c.87162A= (p.Glu29054=)
c.68925A= (p.Glu22975=)
c.58779A= (p.Glu19593=)
2g.178544115T>ACA349454560TTN,TTN-AS1c.88325A>T (p.Glu29442Val)
c.69410A>T (p.Glu23137Val)
c.69209A>T (p.Glu23070Val)
c.68834A>T (p.Glu22945Val)
c.96029A>T (p.Glu32010Val)
c.91106A>T (p.Glu30369Val)
n.446+20479T>A
n.2043+1754T>A
c.95126A>T (p.Glu31709Val)
c.69020A>T (p.Glu23007Val)
c.68879A>T (p.Glu22960Val)
c.94922A>T (p.Glu31641Val)
c.90320A>T (p.Glu30107Val)
c.90317A>T (p.Glu30106Val)
c.87359A>T (p.Glu29120Val)
c.68975A>T (p.Glu22992Val)
c.90470A>T (p.Glu30157Val)
c.90467A>T (p.Glu30156Val)
c.89900A>T (p.Glu29967Val)
c.87242A>T (p.Glu29081Val)
c.87161A>T (p.Glu29054Val)
c.68924A>T (p.Glu22975Val)
c.58778A>T (p.Glu19593Val)
2g.178544115T>CCA349454566TTN,TTN-AS1c.88325A>G (p.Glu29442Gly)
c.69410A>G (p.Glu23137Gly)
c.69209A>G (p.Glu23070Gly)
c.68834A>G (p.Glu22945Gly)
c.96029A>G (p.Glu32010Gly)
c.91106A>G (p.Glu30369Gly)
n.446+20479T>C
n.2043+1754T>C
c.95126A>G (p.Glu31709Gly)
c.69020A>G (p.Glu23007Gly)
c.68879A>G (p.Glu22960Gly)
c.94922A>G (p.Glu31641Gly)
c.90320A>G (p.Glu30107Gly)
c.90317A>G (p.Glu30106Gly)
c.87359A>G (p.Glu29120Gly)
c.68975A>G (p.Glu22992Gly)
c.90470A>G (p.Glu30157Gly)
c.90467A>G (p.Glu30156Gly)
c.89900A>G (p.Glu29967Gly)
c.87242A>G (p.Glu29081Gly)
c.87161A>G (p.Glu29054Gly)
c.68924A>G (p.Glu22975Gly)
c.58778A>G (p.Glu19593Gly)
2g.178544115T>GCA349454546TTN,TTN-AS1c.88325A>C (p.Glu29442Ala)
c.69410A>C (p.Glu23137Ala)
c.69209A>C (p.Glu23070Ala)
c.68834A>C (p.Glu22945Ala)
c.96029A>C (p.Glu32010Ala)
c.91106A>C (p.Glu30369Ala)
n.446+20479T>G
n.2043+1754T>G
c.95126A>C (p.Glu31709Ala)
c.69020A>C (p.Glu23007Ala)
c.68879A>C (p.Glu22960Ala)
c.94922A>C (p.Glu31641Ala)
c.90320A>C (p.Glu30107Ala)
c.90317A>C (p.Glu30106Ala)
c.87359A>C (p.Glu29120Ala)
c.68975A>C (p.Glu22992Ala)
c.90470A>C (p.Glu30157Ala)
c.90467A>C (p.Glu30156Ala)
c.89900A>C (p.Glu29967Ala)
c.87242A>C (p.Glu29081Ala)
c.87161A>C (p.Glu29054Ala)
c.68924A>C (p.Glu22975Ala)
c.58778A>C (p.Glu19593Ala)
2g.178544116C>ACA349454570TTN,TTN-AS1c.88325-1G>T (n.88325-1G>T)
c.69410-1G>T (n.69410-1G>T)
c.69209-1G>T (n.69209-1G>T)
c.68834-1G>T (n.68834-1G>T)
c.96029-1G>T (n.96029-1G>T)
c.91106-1G>T (n.91106-1G>T)
n.446+20480C>A
n.2043+1755C>A
c.95126-1G>T (n.95126-1G>T)
c.69020-1G>T (n.69020-1G>T)
c.68879-1G>T (n.68879-1G>T)
c.94922-1G>T (n.94922-1G>T)
c.90320-1G>T (n.90320-1G>T)
c.90317-1G>T (n.90317-1G>T)
c.87359-1G>T (n.87359-1G>T)
c.68975-1G>T (n.68975-1G>T)
c.90470-1G>T (n.90470-1G>T)
c.90467-1G>T (n.90467-1G>T)
c.89900-1G>T (n.89900-1G>T)
c.87242-1G>T (n.87242-1G>T)
c.87161-1G>T (n.87161-1G>T)
c.68924-1G>T (n.68924-1G>T)
c.58778-1G>T (n.58778-1G>T)
2g.178544116C>GCA349454587TTN,TTN-AS1c.88325-1G>C (n.88325-1G>C)
c.69410-1G>C (n.69410-1G>C)
c.69209-1G>C (n.69209-1G>C)
c.68834-1G>C (n.68834-1G>C)
c.96029-1G>C (n.96029-1G>C)
c.91106-1G>C (n.91106-1G>C)
n.446+20480C>G
n.2043+1755C>G
c.95126-1G>C (n.95126-1G>C)
c.69020-1G>C (n.69020-1G>C)
c.68879-1G>C (n.68879-1G>C)
c.94922-1G>C (n.94922-1G>C)
c.90320-1G>C (n.90320-1G>C)
c.90317-1G>C (n.90317-1G>C)
c.87359-1G>C (n.87359-1G>C)
c.68975-1G>C (n.68975-1G>C)
c.90470-1G>C (n.90470-1G>C)
c.90467-1G>C (n.90467-1G>C)
c.89900-1G>C (n.89900-1G>C)
c.87242-1G>C (n.87242-1G>C)
c.87161-1G>C (n.87161-1G>C)
c.68924-1G>C (n.68924-1G>C)
c.58778-1G>C (n.58778-1G>C)
2g.178544116C>TCA349454590TTN,TTN-AS1c.88325-1G>A (n.88325-1G>A)
c.69410-1G>A (n.69410-1G>A)
c.69209-1G>A (n.69209-1G>A)
c.68834-1G>A (n.68834-1G>A)
c.96029-1G>A (n.96029-1G>A)
c.91106-1G>A (n.91106-1G>A)
n.446+20480C>T
n.2043+1755C>T
c.95126-1G>A (n.95126-1G>A)
c.69020-1G>A (n.69020-1G>A)
c.68879-1G>A (n.68879-1G>A)
c.94922-1G>A (n.94922-1G>A)
c.90320-1G>A (n.90320-1G>A)
c.90317-1G>A (n.90317-1G>A)
c.87359-1G>A (n.87359-1G>A)
c.68975-1G>A (n.68975-1G>A)
c.90470-1G>A (n.90470-1G>A)
c.90467-1G>A (n.90467-1G>A)
c.89900-1G>A (n.89900-1G>A)
c.87242-1G>A (n.87242-1G>A)
c.87161-1G>A (n.87161-1G>A)
c.68924-1G>A (n.68924-1G>A)
c.58778-1G>A (n.58778-1G>A)
 gnomAD v4
2g.178544118_178544202delCA2753331329TTN,TTN-AS1c.88324+1_88325-1del
c.69409+1_69410-1del
c.69208+1_69209-1del
c.68833+1_68834-1del
c.96028+1_96029-1del
c.91105+1_91106-1del
n.446+20482_446+20566del
n.2043+1757_2043+1841del
c.95125+1_95126-1del
c.69019+1_69020-1del
c.68878+1_68879-1del
c.94921+1_94922-1del
c.90319+1_90320-1del
c.90316+1_90317-1del
c.87358+1_87359-1del
c.68974+1_68975-1del
c.90469+1_90470-1del
c.90466+1_90467-1del
c.89899+1_89900-1del
c.87241+1_87242-1del
c.87160+1_87161-1del
c.68923+1_68924-1del
c.58777+1_58778-1del
2g.178544117T>ACA349454595TTN,TTN-AS1c.88325-2A>T (n.88325-2A>T)
c.69410-2A>T (n.69410-2A>T)
c.69209-2A>T (n.69209-2A>T)
c.68834-2A>T (n.68834-2A>T)
c.96029-2A>T (n.96029-2A>T)
c.91106-2A>T (n.91106-2A>T)
n.446+20481T>A
n.2043+1756T>A
c.95126-2A>T (n.95126-2A>T)
c.69020-2A>T (n.69020-2A>T)
c.68879-2A>T (n.68879-2A>T)
c.94922-2A>T (n.94922-2A>T)
c.90320-2A>T (n.90320-2A>T)
c.90317-2A>T (n.90317-2A>T)
c.87359-2A>T (n.87359-2A>T)
c.68975-2A>T (n.68975-2A>T)
c.90470-2A>T (n.90470-2A>T)
c.90467-2A>T (n.90467-2A>T)
c.89900-2A>T (n.89900-2A>T)
c.87242-2A>T (n.87242-2A>T)
c.87161-2A>T (n.87161-2A>T)
c.68924-2A>T (n.68924-2A>T)
c.58778-2A>T (n.58778-2A>T)
2g.178544117T>CCA349454600TTN,TTN-AS1c.88325-2A>G (n.88325-2A>G)
c.69410-2A>G (n.69410-2A>G)
c.69209-2A>G (n.69209-2A>G)
c.68834-2A>G (n.68834-2A>G)
c.96029-2A>G (n.96029-2A>G)
c.91106-2A>G (n.91106-2A>G)
n.446+20481T>C
n.2043+1756T>C
c.95126-2A>G (n.95126-2A>G)
c.69020-2A>G (n.69020-2A>G)
c.68879-2A>G (n.68879-2A>G)
c.94922-2A>G (n.94922-2A>G)
c.90320-2A>G (n.90320-2A>G)
c.90317-2A>G (n.90317-2A>G)
c.87359-2A>G (n.87359-2A>G)
c.68975-2A>G (n.68975-2A>G)
c.90470-2A>G (n.90470-2A>G)
c.90467-2A>G (n.90467-2A>G)
c.89900-2A>G (n.89900-2A>G)
c.87242-2A>G (n.87242-2A>G)
c.87161-2A>G (n.87161-2A>G)
c.68924-2A>G (n.68924-2A>G)
c.58778-2A>G (n.58778-2A>G)
2g.178544117T>GCA349454609TTN,TTN-AS1c.88325-2A>C (n.88325-2A>C)
c.69410-2A>C (n.69410-2A>C)
c.69209-2A>C (n.69209-2A>C)
c.68834-2A>C (n.68834-2A>C)
c.96029-2A>C (n.96029-2A>C)
c.91106-2A>C (n.91106-2A>C)
n.446+20481T>G
n.2043+1756T>G
c.95126-2A>C (n.95126-2A>C)
c.69020-2A>C (n.69020-2A>C)
c.68879-2A>C (n.68879-2A>C)
c.94922-2A>C (n.94922-2A>C)
c.90320-2A>C (n.90320-2A>C)
c.90317-2A>C (n.90317-2A>C)
c.87359-2A>C (n.87359-2A>C)
c.68975-2A>C (n.68975-2A>C)
c.90470-2A>C (n.90470-2A>C)
c.90467-2A>C (n.90467-2A>C)
c.89900-2A>C (n.89900-2A>C)
c.87242-2A>C (n.87242-2A>C)
c.87161-2A>C (n.87161-2A>C)
c.68924-2A>C (n.68924-2A>C)
c.58778-2A>C (n.58778-2A>C)
2g.178544118G>ACA2577170222TTN,TTN-AS1c.88325-3C>T (n.88325-3C>T)
c.69410-3C>T (n.69410-3C>T)
c.69209-3C>T (n.69209-3C>T)
c.68834-3C>T (n.68834-3C>T)
c.96029-3C>T (n.96029-3C>T)
c.91106-3C>T (n.91106-3C>T)
n.446+20482G>A
n.2043+1757G>A
c.95126-3C>T (n.95126-3C>T)
c.69020-3C>T (n.69020-3C>T)
c.68879-3C>T (n.68879-3C>T)
c.94922-3C>T (n.94922-3C>T)
c.90320-3C>T (n.90320-3C>T)
c.90317-3C>T (n.90317-3C>T)
c.87359-3C>T (n.87359-3C>T)
c.68975-3C>T (n.68975-3C>T)
c.90470-3C>T (n.90470-3C>T)
c.90467-3C>T (n.90467-3C>T)
c.89900-3C>T (n.89900-3C>T)
c.87242-3C>T (n.87242-3C>T)
c.87161-3C>T (n.87161-3C>T)
c.68924-3C>T (n.68924-3C>T)
c.58778-3C>T (n.58778-3C>T)
 gnomAD v4
2g.178544118G>TCA2662123753TTN,TTN-AS1c.88325-3C>A (n.88325-3C>A)
c.69410-3C>A (n.69410-3C>A)
c.69209-3C>A (n.69209-3C>A)
c.68834-3C>A (n.68834-3C>A)
c.96029-3C>A (n.96029-3C>A)
c.91106-3C>A (n.91106-3C>A)
n.446+20482G>T
n.2043+1757G>T
c.95126-3C>A (n.95126-3C>A)
c.69020-3C>A (n.69020-3C>A)
c.68879-3C>A (n.68879-3C>A)
c.94922-3C>A (n.94922-3C>A)
c.90320-3C>A (n.90320-3C>A)
c.90317-3C>A (n.90317-3C>A)
c.87359-3C>A (n.87359-3C>A)
c.68975-3C>A (n.68975-3C>A)
c.90470-3C>A (n.90470-3C>A)
c.90467-3C>A (n.90467-3C>A)
c.89900-3C>A (n.89900-3C>A)
c.87242-3C>A (n.87242-3C>A)
c.87161-3C>A (n.87161-3C>A)
c.68924-3C>A (n.68924-3C>A)
c.58778-3C>A (n.58778-3C>A)
 gnomAD v4
2g.178544119G>ACA2662123754TTN,TTN-AS1c.88325-4C>T (n.88325-4C>T)
c.69410-4C>T (n.69410-4C>T)
c.69209-4C>T (n.69209-4C>T)
c.68834-4C>T (n.68834-4C>T)
c.96029-4C>T (n.96029-4C>T)
c.91106-4C>T (n.91106-4C>T)
n.446+20483G>A
n.2043+1758G>A
c.95126-4C>T (n.95126-4C>T)
c.69020-4C>T (n.69020-4C>T)
c.68879-4C>T (n.68879-4C>T)
c.94922-4C>T (n.94922-4C>T)
c.90320-4C>T (n.90320-4C>T)
c.90317-4C>T (n.90317-4C>T)
c.87359-4C>T (n.87359-4C>T)
c.68975-4C>T (n.68975-4C>T)
c.90470-4C>T (n.90470-4C>T)
c.90467-4C>T (n.90467-4C>T)
c.89900-4C>T (n.89900-4C>T)
c.87242-4C>T (n.87242-4C>T)
c.87161-4C>T (n.87161-4C>T)
c.68924-4C>T (n.68924-4C>T)
c.58778-4C>T (n.58778-4C>T)
 gnomAD v4
2g.178544119G>TCA2662123755TTN,TTN-AS1c.88325-4C>A (n.88325-4C>A)
c.69410-4C>A (n.69410-4C>A)
c.69209-4C>A (n.69209-4C>A)
c.68834-4C>A (n.68834-4C>A)
c.96029-4C>A (n.96029-4C>A)
c.91106-4C>A (n.91106-4C>A)
n.446+20483G>T
n.2043+1758G>T
c.95126-4C>A (n.95126-4C>A)
c.69020-4C>A (n.69020-4C>A)
c.68879-4C>A (n.68879-4C>A)
c.94922-4C>A (n.94922-4C>A)
c.90320-4C>A (n.90320-4C>A)
c.90317-4C>A (n.90317-4C>A)
c.87359-4C>A (n.87359-4C>A)
c.68975-4C>A (n.68975-4C>A)
c.90470-4C>A (n.90470-4C>A)
c.90467-4C>A (n.90467-4C>A)
c.89900-4C>A (n.89900-4C>A)
c.87242-4C>A (n.87242-4C>A)
c.87161-4C>A (n.87161-4C>A)
c.68924-4C>A (n.68924-4C>A)
c.58778-4C>A (n.58778-4C>A)
 gnomAD v4
2g.178544121A>GCA2662123757TTN,TTN-AS1c.88325-6T>C (n.88325-6T>C)
c.69410-6T>C (n.69410-6T>C)
c.69209-6T>C (n.69209-6T>C)
c.68834-6T>C (n.68834-6T>C)
c.96029-6T>C (n.96029-6T>C)
c.91106-6T>C (n.91106-6T>C)
n.446+20485A>G
n.2043+1760A>G
c.95126-6T>C (n.95126-6T>C)
c.69020-6T>C (n.69020-6T>C)
c.68879-6T>C (n.68879-6T>C)
c.94922-6T>C (n.94922-6T>C)
c.90320-6T>C (n.90320-6T>C)
c.90317-6T>C (n.90317-6T>C)
c.87359-6T>C (n.87359-6T>C)
c.68975-6T>C (n.68975-6T>C)
c.90470-6T>C (n.90470-6T>C)
c.90467-6T>C (n.90467-6T>C)
c.89900-6T>C (n.89900-6T>C)
c.87242-6T>C (n.87242-6T>C)
c.87161-6T>C (n.87161-6T>C)
c.68924-6T>C (n.68924-6T>C)
c.58778-6T>C (n.58778-6T>C)
 gnomAD v4
2g.178544122A>CCA2662123758TTN,TTN-AS1c.88325-7T>G (n.88325-7T>G)
c.69410-7T>G (n.69410-7T>G)
c.69209-7T>G (n.69209-7T>G)
c.68834-7T>G (n.68834-7T>G)
c.96029-7T>G (n.96029-7T>G)
c.91106-7T>G (n.91106-7T>G)
n.446+20486A>C
n.2043+1761A>C
c.95126-7T>G (n.95126-7T>G)
c.69020-7T>G (n.69020-7T>G)
c.68879-7T>G (n.68879-7T>G)
c.94922-7T>G (n.94922-7T>G)
c.90320-7T>G (n.90320-7T>G)
c.90317-7T>G (n.90317-7T>G)
c.87359-7T>G (n.87359-7T>G)
c.68975-7T>G (n.68975-7T>G)
c.90470-7T>G (n.90470-7T>G)
c.90467-7T>G (n.90467-7T>G)
c.89900-7T>G (n.89900-7T>G)
c.87242-7T>G (n.87242-7T>G)
c.87161-7T>G (n.87161-7T>G)
c.68924-7T>G (n.68924-7T>G)
c.58778-7T>G (n.58778-7T>G)
 gnomAD v4
2g.178544123G=CA1310521344TTN,TTN-AS1c.88325-8C= (n.88325-8C=)
c.69410-8C= (n.69410-8C=)
c.69209-8C= (n.69209-8C=)
c.68834-8C= (n.68834-8C=)
c.96029-8C= (n.96029-8C=)
c.91106-8C= (n.91106-8C=)
n.446+20487G=
n.2043+1762G=
c.95126-8C= (n.95126-8C=)
c.69020-8C= (n.69020-8C=)
c.68879-8C= (n.68879-8C=)
c.94922-8C= (n.94922-8C=)
c.90320-8C= (n.90320-8C=)
c.90317-8C= (n.90317-8C=)
c.87359-8C= (n.87359-8C=)
c.68975-8C= (n.68975-8C=)
c.90470-8C= (n.90470-8C=)
c.90467-8C= (n.90467-8C=)
c.89900-8C= (n.89900-8C=)
c.87242-8C= (n.87242-8C=)
c.87161-8C= (n.87161-8C=)
c.68924-8C= (n.68924-8C=)
c.58778-8C= (n.58778-8C=)
2g.178544123G>TCA538435150TTN,TTN-AS1c.88325-8C>A (n.88325-8C>A)
c.69410-8C>A (n.69410-8C>A)
c.69209-8C>A (n.69209-8C>A)
c.68834-8C>A (n.68834-8C>A)
c.96029-8C>A (n.96029-8C>A)
c.91106-8C>A (n.91106-8C>A)
n.446+20487G>T
n.2043+1762G>T
c.95126-8C>A (n.95126-8C>A)
c.69020-8C>A (n.69020-8C>A)
c.68879-8C>A (n.68879-8C>A)
c.94922-8C>A (n.94922-8C>A)
c.90320-8C>A (n.90320-8C>A)
c.90317-8C>A (n.90317-8C>A)
c.87359-8C>A (n.87359-8C>A)
c.68975-8C>A (n.68975-8C>A)
c.90470-8C>A (n.90470-8C>A)
c.90467-8C>A (n.90467-8C>A)
c.89900-8C>A (n.89900-8C>A)
c.87242-8C>A (n.87242-8C>A)
c.87161-8C>A (n.87161-8C>A)
c.68924-8C>A (n.68924-8C>A)
c.58778-8C>A (n.58778-8C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.178544129_178544141delCA2662123760TTN,TTN-AS1c.88325-21_88325-9del (n.88325-21_88325-9del)
c.69410-21_69410-9del (n.69410-21_69410-9del)
c.69209-21_69209-9del (n.69209-21_69209-9del)
c.68834-21_68834-9del (n.68834-21_68834-9del)
c.96029-21_96029-9del (n.96029-21_96029-9del)
c.91106-21_91106-9del (n.91106-21_91106-9del)
n.446+20493_446+20505del
n.2043+1768_2043+1780del
c.95126-21_95126-9del (n.95126-21_95126-9del)
c.69020-21_69020-9del (n.69020-21_69020-9del)
c.68879-21_68879-9del (n.68879-21_68879-9del)
c.94922-21_94922-9del (n.94922-21_94922-9del)
c.90320-21_90320-9del (n.90320-21_90320-9del)
c.90317-21_90317-9del (n.90317-21_90317-9del)
c.87359-21_87359-9del (n.87359-21_87359-9del)
c.68975-21_68975-9del (n.68975-21_68975-9del)
c.90470-21_90470-9del (n.90470-21_90470-9del)
c.90467-21_90467-9del (n.90467-21_90467-9del)
c.89900-21_89900-9del (n.89900-21_89900-9del)
c.87242-21_87242-9del (n.87242-21_87242-9del)
c.87161-21_87161-9del (n.87161-21_87161-9del)
c.68924-21_68924-9del (n.68924-21_68924-9del)
c.58778-21_58778-9del (n.58778-21_58778-9del)
 gnomAD v4
2g.178544127A>GCA2580064671TTN,TTN-AS1c.88325-12T>C (n.88325-12T>C)
c.69410-12T>C (n.69410-12T>C)
c.69209-12T>C (n.69209-12T>C)
c.68834-12T>C (n.68834-12T>C)
c.96029-12T>C (n.96029-12T>C)
c.91106-12T>C (n.91106-12T>C)
n.446+20491A>G
n.2043+1766A>G
c.95126-12T>C (n.95126-12T>C)
c.69020-12T>C (n.69020-12T>C)
c.68879-12T>C (n.68879-12T>C)
c.94922-12T>C (n.94922-12T>C)
c.90320-12T>C (n.90320-12T>C)
c.90317-12T>C (n.90317-12T>C)
c.87359-12T>C (n.87359-12T>C)
c.68975-12T>C (n.68975-12T>C)
c.90470-12T>C (n.90470-12T>C)
c.90467-12T>C (n.90467-12T>C)
c.89900-12T>C (n.89900-12T>C)
c.87242-12T>C (n.87242-12T>C)
c.87161-12T>C (n.87161-12T>C)
c.68924-12T>C (n.68924-12T>C)
c.58778-12T>C (n.58778-12T>C)
 ClinVar
2g.178544128T>CCA60970451TTN,TTN-AS1c.88325-13A>G (n.88325-13A>G)
c.69410-13A>G (n.69410-13A>G)
c.69209-13A>G (n.69209-13A>G)
c.68834-13A>G (n.68834-13A>G)
c.96029-13A>G (n.96029-13A>G)
c.91106-13A>G (n.91106-13A>G)
n.446+20492T>C
n.2043+1767T>C
c.95126-13A>G (n.95126-13A>G)
c.69020-13A>G (n.69020-13A>G)
c.68879-13A>G (n.68879-13A>G)
c.94922-13A>G (n.94922-13A>G)
c.90320-13A>G (n.90320-13A>G)
c.90317-13A>G (n.90317-13A>G)
c.87359-13A>G (n.87359-13A>G)
c.68975-13A>G (n.68975-13A>G)
c.90470-13A>G (n.90470-13A>G)
c.90467-13A>G (n.90467-13A>G)
c.89900-13A>G (n.89900-13A>G)
c.87242-13A>G (n.87242-13A>G)
c.87161-13A>G (n.87161-13A>G)
c.68924-13A>G (n.68924-13A>G)
c.58778-13A>G (n.58778-13A>G)
 dbSNP gnomAD v4
2g.178544128T=CA1310521346TTN,TTN-AS1c.88325-13A= (n.88325-13A=)
c.69410-13A= (n.69410-13A=)
c.69209-13A= (n.69209-13A=)
c.68834-13A= (n.68834-13A=)
c.96029-13A= (n.96029-13A=)
c.91106-13A= (n.91106-13A=)
n.446+20492T=
n.2043+1767T=
c.95126-13A= (n.95126-13A=)
c.69020-13A= (n.69020-13A=)
c.68879-13A= (n.68879-13A=)
c.94922-13A= (n.94922-13A=)
c.90320-13A= (n.90320-13A=)
c.90317-13A= (n.90317-13A=)
c.87359-13A= (n.87359-13A=)
c.68975-13A= (n.68975-13A=)
c.90470-13A= (n.90470-13A=)
c.90467-13A= (n.90467-13A=)
c.89900-13A= (n.89900-13A=)
c.87242-13A= (n.87242-13A=)
c.87161-13A= (n.87161-13A=)
c.68924-13A= (n.68924-13A=)
c.58778-13A= (n.58778-13A=)
2g.178544129G=CA1310521348TTN,TTN-AS1c.88325-14C= (n.88325-14C=)
c.69410-14C= (n.69410-14C=)
c.69209-14C= (n.69209-14C=)
c.68834-14C= (n.68834-14C=)
c.96029-14C= (n.96029-14C=)
c.91106-14C= (n.91106-14C=)
n.446+20493G=
n.2043+1768G=
c.95126-14C= (n.95126-14C=)
c.69020-14C= (n.69020-14C=)
c.68879-14C= (n.68879-14C=)
c.94922-14C= (n.94922-14C=)
c.90320-14C= (n.90320-14C=)
c.90317-14C= (n.90317-14C=)
c.87359-14C= (n.87359-14C=)
c.68975-14C= (n.68975-14C=)
c.90470-14C= (n.90470-14C=)
c.90467-14C= (n.90467-14C=)
c.89900-14C= (n.89900-14C=)
c.87242-14C= (n.87242-14C=)
c.87161-14C= (n.87161-14C=)
c.68924-14C= (n.68924-14C=)
c.58778-14C= (n.58778-14C=)
2g.178544129G>TCA1310521349TTN,TTN-AS1c.88325-14C>A (n.88325-14C>A)
c.69410-14C>A (n.69410-14C>A)
c.69209-14C>A (n.69209-14C>A)
c.68834-14C>A (n.68834-14C>A)
c.96029-14C>A (n.96029-14C>A)
c.91106-14C>A (n.91106-14C>A)
n.446+20493G>T
n.2043+1768G>T
c.95126-14C>A (n.95126-14C>A)
c.69020-14C>A (n.69020-14C>A)
c.68879-14C>A (n.68879-14C>A)
c.94922-14C>A (n.94922-14C>A)
c.90320-14C>A (n.90320-14C>A)
c.90317-14C>A (n.90317-14C>A)
c.87359-14C>A (n.87359-14C>A)
c.68975-14C>A (n.68975-14C>A)
c.90470-14C>A (n.90470-14C>A)
c.90467-14C>A (n.90467-14C>A)
c.89900-14C>A (n.89900-14C>A)
c.87242-14C>A (n.87242-14C>A)
c.87161-14C>A (n.87161-14C>A)
c.68924-14C>A (n.68924-14C>A)
c.58778-14C>A (n.58778-14C>A)
 ClinVar dbSNP gnomAD v4
2g.178544130A=CA1310521352TTN,TTN-AS1c.88325-15T= (n.88325-15T=)
c.69410-15T= (n.69410-15T=)
c.69209-15T= (n.69209-15T=)
c.68834-15T= (n.68834-15T=)
c.96029-15T= (n.96029-15T=)
c.91106-15T= (n.91106-15T=)
n.446+20494A=
n.2043+1769A=
c.95126-15T= (n.95126-15T=)
c.69020-15T= (n.69020-15T=)
c.68879-15T= (n.68879-15T=)
c.94922-15T= (n.94922-15T=)
c.90320-15T= (n.90320-15T=)
c.90317-15T= (n.90317-15T=)
c.87359-15T= (n.87359-15T=)
c.68975-15T= (n.68975-15T=)
c.90470-15T= (n.90470-15T=)
c.90467-15T= (n.90467-15T=)
c.89900-15T= (n.89900-15T=)
c.87242-15T= (n.87242-15T=)
c.87161-15T= (n.87161-15T=)
c.68924-15T= (n.68924-15T=)
c.58778-15T= (n.58778-15T=)
2g.178544130A>GCA1310521350TTN,TTN-AS1c.88325-15T>C (n.88325-15T>C)
c.69410-15T>C (n.69410-15T>C)
c.69209-15T>C (n.69209-15T>C)
c.68834-15T>C (n.68834-15T>C)
c.96029-15T>C (n.96029-15T>C)
c.91106-15T>C (n.91106-15T>C)
n.446+20494A>G
n.2043+1769A>G
c.95126-15T>C (n.95126-15T>C)
c.69020-15T>C (n.69020-15T>C)
c.68879-15T>C (n.68879-15T>C)
c.94922-15T>C (n.94922-15T>C)
c.90320-15T>C (n.90320-15T>C)
c.90317-15T>C (n.90317-15T>C)
c.87359-15T>C (n.87359-15T>C)
c.68975-15T>C (n.68975-15T>C)
c.90470-15T>C (n.90470-15T>C)
c.90467-15T>C (n.90467-15T>C)
c.89900-15T>C (n.89900-15T>C)
c.87242-15T>C (n.87242-15T>C)
c.87161-15T>C (n.87161-15T>C)
c.68924-15T>C (n.68924-15T>C)
c.58778-15T>C (n.58778-15T>C)
 dbSNP
2g.178544131C>GCA2662123763TTN,TTN-AS1c.88325-16G>C (n.88325-16G>C)
c.69410-16G>C (n.69410-16G>C)
c.69209-16G>C (n.69209-16G>C)
c.68834-16G>C (n.68834-16G>C)
c.96029-16G>C (n.96029-16G>C)
c.91106-16G>C (n.91106-16G>C)
n.446+20495C>G
n.2043+1770C>G
c.95126-16G>C (n.95126-16G>C)
c.69020-16G>C (n.69020-16G>C)
c.68879-16G>C (n.68879-16G>C)
c.94922-16G>C (n.94922-16G>C)
c.90320-16G>C (n.90320-16G>C)
c.90317-16G>C (n.90317-16G>C)
c.87359-16G>C (n.87359-16G>C)
c.68975-16G>C (n.68975-16G>C)
c.90470-16G>C (n.90470-16G>C)
c.90467-16G>C (n.90467-16G>C)
c.89900-16G>C (n.89900-16G>C)
c.87242-16G>C (n.87242-16G>C)
c.87161-16G>C (n.87161-16G>C)
c.68924-16G>C (n.68924-16G>C)
c.58778-16G>C (n.58778-16G>C)
 gnomAD v4
2g.178544132A=CA1310521353TTN,TTN-AS1c.88325-17T= (n.88325-17T=)
c.69410-17T= (n.69410-17T=)
c.69209-17T= (n.69209-17T=)
c.68834-17T= (n.68834-17T=)
c.96029-17T= (n.96029-17T=)
c.91106-17T= (n.91106-17T=)
n.446+20496A=
n.2043+1771A=
c.95126-17T= (n.95126-17T=)
c.69020-17T= (n.69020-17T=)
c.68879-17T= (n.68879-17T=)
c.94922-17T= (n.94922-17T=)
c.90320-17T= (n.90320-17T=)
c.90317-17T= (n.90317-17T=)
c.87359-17T= (n.87359-17T=)
c.68975-17T= (n.68975-17T=)
c.90470-17T= (n.90470-17T=)
c.90467-17T= (n.90467-17T=)
c.89900-17T= (n.89900-17T=)
c.87242-17T= (n.87242-17T=)
c.87161-17T= (n.87161-17T=)
c.68924-17T= (n.68924-17T=)
c.58778-17T= (n.58778-17T=)
2g.178544132A>CCA60970452TTN,TTN-AS1c.88325-17T>G (n.88325-17T>G)
c.69410-17T>G (n.69410-17T>G)
c.69209-17T>G (n.69209-17T>G)
c.68834-17T>G (n.68834-17T>G)
c.96029-17T>G (n.96029-17T>G)
c.91106-17T>G (n.91106-17T>G)
n.446+20496A>C
n.2043+1771A>C
c.95126-17T>G (n.95126-17T>G)
c.69020-17T>G (n.69020-17T>G)
c.68879-17T>G (n.68879-17T>G)
c.94922-17T>G (n.94922-17T>G)
c.90320-17T>G (n.90320-17T>G)
c.90317-17T>G (n.90317-17T>G)
c.87359-17T>G (n.87359-17T>G)
c.68975-17T>G (n.68975-17T>G)
c.90470-17T>G (n.90470-17T>G)
c.90467-17T>G (n.90467-17T>G)
c.89900-17T>G (n.89900-17T>G)
c.87242-17T>G (n.87242-17T>G)
c.87161-17T>G (n.87161-17T>G)
c.68924-17T>G (n.68924-17T>G)
c.58778-17T>G (n.58778-17T>G)
 dbSNP
2g.178544135delCA647825814TTN,TTN-AS1c.88325-17del (n.88325-17del)
c.69410-17del (n.69410-17del)
c.69209-17del (n.69209-17del)
c.68834-17del (n.68834-17del)
c.96029-17del (n.96029-17del)
c.91106-17del (n.91106-17del)
n.446+20499del
n.2043+1774del
c.95126-17del (n.95126-17del)
c.69020-17del (n.69020-17del)
c.68879-17del (n.68879-17del)
c.94922-17del (n.94922-17del)
c.90320-17del (n.90320-17del)
c.90317-17del (n.90317-17del)
c.87359-17del (n.87359-17del)
c.68975-17del (n.68975-17del)
c.90470-17del (n.90470-17del)
c.90467-17del (n.90467-17del)
c.89900-17del (n.89900-17del)
c.87242-17del (n.87242-17del)
c.87161-17del (n.87161-17del)
c.68924-17del (n.68924-17del)
c.58778-17del (n.58778-17del)
 COSMIC
2g.178544133A=CA1310521355TTN,TTN-AS1c.88325-18T= (n.88325-18T=)
c.69410-18T= (n.69410-18T=)
c.69209-18T= (n.69209-18T=)
c.68834-18T= (n.68834-18T=)
c.96029-18T= (n.96029-18T=)
c.91106-18T= (n.91106-18T=)
n.446+20497A=
n.2043+1772A=
c.95126-18T= (n.95126-18T=)
c.69020-18T= (n.69020-18T=)
c.68879-18T= (n.68879-18T=)
c.94922-18T= (n.94922-18T=)
c.90320-18T= (n.90320-18T=)
c.90317-18T= (n.90317-18T=)
c.87359-18T= (n.87359-18T=)
c.68975-18T= (n.68975-18T=)
c.90470-18T= (n.90470-18T=)
c.90467-18T= (n.90467-18T=)
c.89900-18T= (n.89900-18T=)
c.87242-18T= (n.87242-18T=)
c.87161-18T= (n.87161-18T=)
c.68924-18T= (n.68924-18T=)
c.58778-18T= (n.58778-18T=)
2g.178544133A>GCA538435155TTN,TTN-AS1c.88325-18T>C (n.88325-18T>C)
c.69410-18T>C (n.69410-18T>C)
c.69209-18T>C (n.69209-18T>C)
c.68834-18T>C (n.68834-18T>C)
c.96029-18T>C (n.96029-18T>C)
c.91106-18T>C (n.91106-18T>C)
n.446+20497A>G
n.2043+1772A>G
c.95126-18T>C (n.95126-18T>C)
c.69020-18T>C (n.69020-18T>C)
c.68879-18T>C (n.68879-18T>C)
c.94922-18T>C (n.94922-18T>C)
c.90320-18T>C (n.90320-18T>C)
c.90317-18T>C (n.90317-18T>C)
c.87359-18T>C (n.87359-18T>C)
c.68975-18T>C (n.68975-18T>C)
c.90470-18T>C (n.90470-18T>C)
c.90467-18T>C (n.90467-18T>C)
c.89900-18T>C (n.89900-18T>C)
c.87242-18T>C (n.87242-18T>C)
c.87161-18T>C (n.87161-18T>C)
c.68924-18T>C (n.68924-18T>C)
c.58778-18T>C (n.58778-18T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178544134A=CA1310521357TTN,TTN-AS1c.88325-19T= (n.88325-19T=)
c.69410-19T= (n.69410-19T=)
c.69209-19T= (n.69209-19T=)
c.68834-19T= (n.68834-19T=)
c.96029-19T= (n.96029-19T=)
c.91106-19T= (n.91106-19T=)
n.446+20498A=
n.2043+1773A=
c.95126-19T= (n.95126-19T=)
c.69020-19T= (n.69020-19T=)
c.68879-19T= (n.68879-19T=)
c.94922-19T= (n.94922-19T=)
c.90320-19T= (n.90320-19T=)
c.90317-19T= (n.90317-19T=)
c.87359-19T= (n.87359-19T=)
c.68975-19T= (n.68975-19T=)
c.90470-19T= (n.90470-19T=)
c.90467-19T= (n.90467-19T=)
c.89900-19T= (n.89900-19T=)
c.87242-19T= (n.87242-19T=)
c.87161-19T= (n.87161-19T=)
c.68924-19T= (n.68924-19T=)
c.58778-19T= (n.58778-19T=)
2g.178544134A>CCA1039707262TTN,TTN-AS1c.88325-19T>G (n.88325-19T>G)
c.69410-19T>G (n.69410-19T>G)
c.69209-19T>G (n.69209-19T>G)
c.68834-19T>G (n.68834-19T>G)
c.96029-19T>G (n.96029-19T>G)
c.91106-19T>G (n.91106-19T>G)
n.446+20498A>C
n.2043+1773A>C
c.95126-19T>G (n.95126-19T>G)
c.69020-19T>G (n.69020-19T>G)
c.68879-19T>G (n.68879-19T>G)
c.94922-19T>G (n.94922-19T>G)
c.90320-19T>G (n.90320-19T>G)
c.90317-19T>G (n.90317-19T>G)
c.87359-19T>G (n.87359-19T>G)
c.68975-19T>G (n.68975-19T>G)
c.90470-19T>G (n.90470-19T>G)
c.90467-19T>G (n.90467-19T>G)
c.89900-19T>G (n.89900-19T>G)
c.87242-19T>G (n.87242-19T>G)
c.87161-19T>G (n.87161-19T>G)
c.68924-19T>G (n.68924-19T>G)
c.58778-19T>G (n.58778-19T>G)
 dbSNP
2g.178544137T>GCA1310521360TTN,TTN-AS1c.88325-22A>C (n.88325-22A>C)
c.69410-22A>C (n.69410-22A>C)
c.69209-22A>C (n.69209-22A>C)
c.68834-22A>C (n.68834-22A>C)
c.96029-22A>C (n.96029-22A>C)
c.91106-22A>C (n.91106-22A>C)
n.446+20501T>G
n.2043+1776T>G
c.95126-22A>C (n.95126-22A>C)
c.69020-22A>C (n.69020-22A>C)
c.68879-22A>C (n.68879-22A>C)
c.94922-22A>C (n.94922-22A>C)
c.90320-22A>C (n.90320-22A>C)
c.90317-22A>C (n.90317-22A>C)
c.87359-22A>C (n.87359-22A>C)
c.68975-22A>C (n.68975-22A>C)
c.90470-22A>C (n.90470-22A>C)
c.90467-22A>C (n.90467-22A>C)
c.89900-22A>C (n.89900-22A>C)
c.87242-22A>C (n.87242-22A>C)
c.87161-22A>C (n.87161-22A>C)
c.68924-22A>C (n.68924-22A>C)
c.58778-22A>C (n.58778-22A>C)
 dbSNP
2g.178544137T=CA1310521358TTN,TTN-AS1c.88325-22A= (n.88325-22A=)
c.69410-22A= (n.69410-22A=)
c.69209-22A= (n.69209-22A=)
c.68834-22A= (n.68834-22A=)
c.96029-22A= (n.96029-22A=)
c.91106-22A= (n.91106-22A=)
n.446+20501T=
n.2043+1776T=
c.95126-22A= (n.95126-22A=)
c.69020-22A= (n.69020-22A=)
c.68879-22A= (n.68879-22A=)
c.94922-22A= (n.94922-22A=)
c.90320-22A= (n.90320-22A=)
c.90317-22A= (n.90317-22A=)
c.87359-22A= (n.87359-22A=)
c.68975-22A= (n.68975-22A=)
c.90470-22A= (n.90470-22A=)
c.90467-22A= (n.90467-22A=)
c.89900-22A= (n.89900-22A=)
c.87242-22A= (n.87242-22A=)
c.87161-22A= (n.87161-22A=)
c.68924-22A= (n.68924-22A=)
c.58778-22A= (n.58778-22A=)
2g.178544143A=CA1310521361TTN,TTN-AS1c.88325-28T= (n.88325-28T=)
c.69410-28T= (n.69410-28T=)
c.69209-28T= (n.69209-28T=)
c.68834-28T= (n.68834-28T=)
c.96029-28T= (n.96029-28T=)
c.91106-28T= (n.91106-28T=)
n.446+20507A=
n.2043+1782A=
c.95126-28T= (n.95126-28T=)
c.69020-28T= (n.69020-28T=)
c.68879-28T= (n.68879-28T=)
c.94922-28T= (n.94922-28T=)
c.90320-28T= (n.90320-28T=)
c.90317-28T= (n.90317-28T=)
c.87359-28T= (n.87359-28T=)
c.68975-28T= (n.68975-28T=)
c.90470-28T= (n.90470-28T=)
c.90467-28T= (n.90467-28T=)
c.89900-28T= (n.89900-28T=)
c.87242-28T= (n.87242-28T=)
c.87161-28T= (n.87161-28T=)
c.68924-28T= (n.68924-28T=)
c.58778-28T= (n.58778-28T=)
2g.178544143A>GCA538435156TTN,TTN-AS1c.88325-28T>C (n.88325-28T>C)
c.69410-28T>C (n.69410-28T>C)
c.69209-28T>C (n.69209-28T>C)
c.68834-28T>C (n.68834-28T>C)
c.96029-28T>C (n.96029-28T>C)
c.91106-28T>C (n.91106-28T>C)
n.446+20507A>G
n.2043+1782A>G
c.95126-28T>C (n.95126-28T>C)
c.69020-28T>C (n.69020-28T>C)
c.68879-28T>C (n.68879-28T>C)
c.94922-28T>C (n.94922-28T>C)
c.90320-28T>C (n.90320-28T>C)
c.90317-28T>C (n.90317-28T>C)
c.87359-28T>C (n.87359-28T>C)
c.68975-28T>C (n.68975-28T>C)
c.90470-28T>C (n.90470-28T>C)
c.90467-28T>C (n.90467-28T>C)
c.89900-28T>C (n.89900-28T>C)
c.87242-28T>C (n.87242-28T>C)
c.87161-28T>C (n.87161-28T>C)
c.68924-28T>C (n.68924-28T>C)
c.58778-28T>C (n.58778-28T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.178544145T>CCA2577170223TTN,TTN-AS1c.88325-30A>G (n.88325-30A>G)
c.69410-30A>G (n.69410-30A>G)
c.69209-30A>G (n.69209-30A>G)
c.68834-30A>G (n.68834-30A>G)
c.96029-30A>G (n.96029-30A>G)
c.91106-30A>G (n.91106-30A>G)
n.446+20509T>C
n.2043+1784T>C
c.95126-30A>G (n.95126-30A>G)
c.69020-30A>G (n.69020-30A>G)
c.68879-30A>G (n.68879-30A>G)
c.94922-30A>G (n.94922-30A>G)
c.90320-30A>G (n.90320-30A>G)
c.90317-30A>G (n.90317-30A>G)
c.87359-30A>G (n.87359-30A>G)
c.68975-30A>G (n.68975-30A>G)
c.90470-30A>G (n.90470-30A>G)
c.90467-30A>G (n.90467-30A>G)
c.89900-30A>G (n.89900-30A>G)
c.87242-30A>G (n.87242-30A>G)
c.87161-30A>G (n.87161-30A>G)
c.68924-30A>G (n.68924-30A>G)
c.58778-30A>G (n.58778-30A>G)
2g.178544147C>ACA1986825TTN,TTN-AS1c.88325-32G>T (n.88325-32G>T)
c.69410-32G>T (n.69410-32G>T)
c.69209-32G>T (n.69209-32G>T)
c.68834-32G>T (n.68834-32G>T)
c.96029-32G>T (n.96029-32G>T)
c.91106-32G>T (n.91106-32G>T)
n.446+20511C>A
n.2043+1786C>A
c.95126-32G>T (n.95126-32G>T)
c.69020-32G>T (n.69020-32G>T)
c.68879-32G>T (n.68879-32G>T)
c.94922-32G>T (n.94922-32G>T)
c.90320-32G>T (n.90320-32G>T)
c.90317-32G>T (n.90317-32G>T)
c.87359-32G>T (n.87359-32G>T)
c.68975-32G>T (n.68975-32G>T)
c.90470-32G>T (n.90470-32G>T)
c.90467-32G>T (n.90467-32G>T)
c.89900-32G>T (n.89900-32G>T)
c.87242-32G>T (n.87242-32G>T)
c.87161-32G>T (n.87161-32G>T)
c.68924-32G>T (n.68924-32G>T)
c.58778-32G>T (n.58778-32G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544147C=CA1310521363TTN,TTN-AS1c.88325-32G= (n.88325-32G=)
c.69410-32G= (n.69410-32G=)
c.69209-32G= (n.69209-32G=)
c.68834-32G= (n.68834-32G=)
c.96029-32G= (n.96029-32G=)
c.91106-32G= (n.91106-32G=)
n.446+20511C=
n.2043+1786C=
c.95126-32G= (n.95126-32G=)
c.69020-32G= (n.69020-32G=)
c.68879-32G= (n.68879-32G=)
c.94922-32G= (n.94922-32G=)
c.90320-32G= (n.90320-32G=)
c.90317-32G= (n.90317-32G=)
c.87359-32G= (n.87359-32G=)
c.68975-32G= (n.68975-32G=)
c.90470-32G= (n.90470-32G=)
c.90467-32G= (n.90467-32G=)
c.89900-32G= (n.89900-32G=)
c.87242-32G= (n.87242-32G=)
c.87161-32G= (n.87161-32G=)
c.68924-32G= (n.68924-32G=)
c.58778-32G= (n.58778-32G=)
2g.178544147C>GCA2577170224TTN,TTN-AS1c.88325-32G>C (n.88325-32G>C)
c.69410-32G>C (n.69410-32G>C)
c.69209-32G>C (n.69209-32G>C)
c.68834-32G>C (n.68834-32G>C)
c.96029-32G>C (n.96029-32G>C)
c.91106-32G>C (n.91106-32G>C)
n.446+20511C>G
n.2043+1786C>G
c.95126-32G>C (n.95126-32G>C)
c.69020-32G>C (n.69020-32G>C)
c.68879-32G>C (n.68879-32G>C)
c.94922-32G>C (n.94922-32G>C)
c.90320-32G>C (n.90320-32G>C)
c.90317-32G>C (n.90317-32G>C)
c.87359-32G>C (n.87359-32G>C)
c.68975-32G>C (n.68975-32G>C)
c.90470-32G>C (n.90470-32G>C)
c.90467-32G>C (n.90467-32G>C)
c.89900-32G>C (n.89900-32G>C)
c.87242-32G>C (n.87242-32G>C)
c.87161-32G>C (n.87161-32G>C)
c.68924-32G>C (n.68924-32G>C)
c.58778-32G>C (n.58778-32G>C)
2g.178544147C>TCA2701024158TTN,TTN-AS1c.88325-32G>A (n.88325-32G>A)
c.69410-32G>A (n.69410-32G>A)
c.69209-32G>A (n.69209-32G>A)
c.68834-32G>A (n.68834-32G>A)
c.96029-32G>A (n.96029-32G>A)
c.91106-32G>A (n.91106-32G>A)
n.446+20511C>T
n.2043+1786C>T
c.95126-32G>A (n.95126-32G>A)
c.69020-32G>A (n.69020-32G>A)
c.68879-32G>A (n.68879-32G>A)
c.94922-32G>A (n.94922-32G>A)
c.90320-32G>A (n.90320-32G>A)
c.90317-32G>A (n.90317-32G>A)
c.87359-32G>A (n.87359-32G>A)
c.68975-32G>A (n.68975-32G>A)
c.90470-32G>A (n.90470-32G>A)
c.90467-32G>A (n.90467-32G>A)
c.89900-32G>A (n.89900-32G>A)
c.87242-32G>A (n.87242-32G>A)
c.87161-32G>A (n.87161-32G>A)
c.68924-32G>A (n.68924-32G>A)
c.58778-32G>A (n.58778-32G>A)
 dbSNP
2g.178544148A=CA1310521364TTN,TTN-AS1c.88325-33T= (n.88325-33T=)
c.69410-33T= (n.69410-33T=)
c.69209-33T= (n.69209-33T=)
c.68834-33T= (n.68834-33T=)
c.96029-33T= (n.96029-33T=)
c.91106-33T= (n.91106-33T=)
n.446+20512A=
n.2043+1787A=
c.95126-33T= (n.95126-33T=)
c.69020-33T= (n.69020-33T=)
c.68879-33T= (n.68879-33T=)
c.94922-33T= (n.94922-33T=)
c.90320-33T= (n.90320-33T=)
c.90317-33T= (n.90317-33T=)
c.87359-33T= (n.87359-33T=)
c.68975-33T= (n.68975-33T=)
c.90470-33T= (n.90470-33T=)
c.90467-33T= (n.90467-33T=)
c.89900-33T= (n.89900-33T=)
c.87242-33T= (n.87242-33T=)
c.87161-33T= (n.87161-33T=)
c.68924-33T= (n.68924-33T=)
c.58778-33T= (n.58778-33T=)
2g.178544148A>TCA1310521365TTN,TTN-AS1c.88325-33T>A (n.88325-33T>A)
c.69410-33T>A (n.69410-33T>A)
c.69209-33T>A (n.69209-33T>A)
c.68834-33T>A (n.68834-33T>A)
c.96029-33T>A (n.96029-33T>A)
c.91106-33T>A (n.91106-33T>A)
n.446+20512A>T
n.2043+1787A>T
c.95126-33T>A (n.95126-33T>A)
c.69020-33T>A (n.69020-33T>A)
c.68879-33T>A (n.68879-33T>A)
c.94922-33T>A (n.94922-33T>A)
c.90320-33T>A (n.90320-33T>A)
c.90317-33T>A (n.90317-33T>A)
c.87359-33T>A (n.87359-33T>A)
c.68975-33T>A (n.68975-33T>A)
c.90470-33T>A (n.90470-33T>A)
c.90467-33T>A (n.90467-33T>A)
c.89900-33T>A (n.89900-33T>A)
c.87242-33T>A (n.87242-33T>A)
c.87161-33T>A (n.87161-33T>A)
c.68924-33T>A (n.68924-33T>A)
c.58778-33T>A (n.58778-33T>A)
 dbSNP
2g.178544149T>CCA1310521367TTN,TTN-AS1c.88325-34A>G (n.88325-34A>G)
c.69410-34A>G (n.69410-34A>G)
c.69209-34A>G (n.69209-34A>G)
c.68834-34A>G (n.68834-34A>G)
c.96029-34A>G (n.96029-34A>G)
c.91106-34A>G (n.91106-34A>G)
n.446+20513T>C
n.2043+1788T>C
c.95126-34A>G (n.95126-34A>G)
c.69020-34A>G (n.69020-34A>G)
c.68879-34A>G (n.68879-34A>G)
c.94922-34A>G (n.94922-34A>G)
c.90320-34A>G (n.90320-34A>G)
c.90317-34A>G (n.90317-34A>G)
c.87359-34A>G (n.87359-34A>G)
c.68975-34A>G (n.68975-34A>G)
c.90470-34A>G (n.90470-34A>G)
c.90467-34A>G (n.90467-34A>G)
c.89900-34A>G (n.89900-34A>G)
c.87242-34A>G (n.87242-34A>G)
c.87161-34A>G (n.87161-34A>G)
c.68924-34A>G (n.68924-34A>G)
c.58778-34A>G (n.58778-34A>G)
 dbSNP gnomAD v4
2g.178544149T=CA1310521366TTN,TTN-AS1c.88325-34A= (n.88325-34A=)
c.69410-34A= (n.69410-34A=)
c.69209-34A= (n.69209-34A=)
c.68834-34A= (n.68834-34A=)
c.96029-34A= (n.96029-34A=)
c.91106-34A= (n.91106-34A=)
n.446+20513T=
n.2043+1788T=
c.95126-34A= (n.95126-34A=)
c.69020-34A= (n.69020-34A=)
c.68879-34A= (n.68879-34A=)
c.94922-34A= (n.94922-34A=)
c.90320-34A= (n.90320-34A=)
c.90317-34A= (n.90317-34A=)
c.87359-34A= (n.87359-34A=)
c.68975-34A= (n.68975-34A=)
c.90470-34A= (n.90470-34A=)
c.90467-34A= (n.90467-34A=)
c.89900-34A= (n.89900-34A=)
c.87242-34A= (n.87242-34A=)
c.87161-34A= (n.87161-34A=)
c.68924-34A= (n.68924-34A=)
c.58778-34A= (n.58778-34A=)
2g.178544150G>ACA2662123769TTN,TTN-AS1c.88325-35C>T (n.88325-35C>T)
c.69410-35C>T (n.69410-35C>T)
c.69209-35C>T (n.69209-35C>T)
c.68834-35C>T (n.68834-35C>T)
c.96029-35C>T (n.96029-35C>T)
c.91106-35C>T (n.91106-35C>T)
n.446+20514G>A
n.2043+1789G>A
c.95126-35C>T (n.95126-35C>T)
c.69020-35C>T (n.69020-35C>T)
c.68879-35C>T (n.68879-35C>T)
c.94922-35C>T (n.94922-35C>T)
c.90320-35C>T (n.90320-35C>T)
c.90317-35C>T (n.90317-35C>T)
c.87359-35C>T (n.87359-35C>T)
c.68975-35C>T (n.68975-35C>T)
c.90470-35C>T (n.90470-35C>T)
c.90467-35C>T (n.90467-35C>T)
c.89900-35C>T (n.89900-35C>T)
c.87242-35C>T (n.87242-35C>T)
c.87161-35C>T (n.87161-35C>T)
c.68924-35C>T (n.68924-35C>T)
c.58778-35C>T (n.58778-35C>T)
 gnomAD v4
2g.178544151G>TCA2662123771TTN,TTN-AS1c.88325-36C>A (n.88325-36C>A)
c.69410-36C>A (n.69410-36C>A)
c.69209-36C>A (n.69209-36C>A)
c.68834-36C>A (n.68834-36C>A)
c.96029-36C>A (n.96029-36C>A)
c.91106-36C>A (n.91106-36C>A)
n.446+20515G>T
n.2043+1790G>T
c.95126-36C>A (n.95126-36C>A)
c.69020-36C>A (n.69020-36C>A)
c.68879-36C>A (n.68879-36C>A)
c.94922-36C>A (n.94922-36C>A)
c.90320-36C>A (n.90320-36C>A)
c.90317-36C>A (n.90317-36C>A)
c.87359-36C>A (n.87359-36C>A)
c.68975-36C>A (n.68975-36C>A)
c.90470-36C>A (n.90470-36C>A)
c.90467-36C>A (n.90467-36C>A)
c.89900-36C>A (n.89900-36C>A)
c.87242-36C>A (n.87242-36C>A)
c.87161-36C>A (n.87161-36C>A)
c.68924-36C>A (n.68924-36C>A)
c.58778-36C>A (n.58778-36C>A)
 gnomAD v4
2g.178544152A=CA1310521369TTN,TTN-AS1c.88325-37T= (n.88325-37T=)
c.69410-37T= (n.69410-37T=)
c.69209-37T= (n.69209-37T=)
c.68834-37T= (n.68834-37T=)
c.96029-37T= (n.96029-37T=)
c.91106-37T= (n.91106-37T=)
n.446+20516A=
n.2043+1791A=
c.95126-37T= (n.95126-37T=)
c.69020-37T= (n.69020-37T=)
c.68879-37T= (n.68879-37T=)
c.94922-37T= (n.94922-37T=)
c.90320-37T= (n.90320-37T=)
c.90317-37T= (n.90317-37T=)
c.87359-37T= (n.87359-37T=)
c.68975-37T= (n.68975-37T=)
c.90470-37T= (n.90470-37T=)
c.90467-37T= (n.90467-37T=)
c.89900-37T= (n.89900-37T=)
c.87242-37T= (n.87242-37T=)
c.87161-37T= (n.87161-37T=)
c.68924-37T= (n.68924-37T=)
c.58778-37T= (n.58778-37T=)
2g.178544152A>GCA1310521370TTN,TTN-AS1c.88325-37T>C (n.88325-37T>C)
c.69410-37T>C (n.69410-37T>C)
c.69209-37T>C (n.69209-37T>C)
c.68834-37T>C (n.68834-37T>C)
c.96029-37T>C (n.96029-37T>C)
c.91106-37T>C (n.91106-37T>C)
n.446+20516A>G
n.2043+1791A>G
c.95126-37T>C (n.95126-37T>C)
c.69020-37T>C (n.69020-37T>C)
c.68879-37T>C (n.68879-37T>C)
c.94922-37T>C (n.94922-37T>C)
c.90320-37T>C (n.90320-37T>C)
c.90317-37T>C (n.90317-37T>C)
c.87359-37T>C (n.87359-37T>C)
c.68975-37T>C (n.68975-37T>C)
c.90470-37T>C (n.90470-37T>C)
c.90467-37T>C (n.90467-37T>C)
c.89900-37T>C (n.89900-37T>C)
c.87242-37T>C (n.87242-37T>C)
c.87161-37T>C (n.87161-37T>C)
c.68924-37T>C (n.68924-37T>C)
c.58778-37T>C (n.58778-37T>C)
 dbSNP
2g.178544153C=CA1310521371TTN,TTN-AS1c.88325-38G= (n.88325-38G=)
c.69410-38G= (n.69410-38G=)
c.69209-38G= (n.69209-38G=)
c.68834-38G= (n.68834-38G=)
c.96029-38G= (n.96029-38G=)
c.91106-38G= (n.91106-38G=)
n.446+20517C=
n.2043+1792C=
c.95126-38G= (n.95126-38G=)
c.69020-38G= (n.69020-38G=)
c.68879-38G= (n.68879-38G=)
c.94922-38G= (n.94922-38G=)
c.90320-38G= (n.90320-38G=)
c.90317-38G= (n.90317-38G=)
c.87359-38G= (n.87359-38G=)
c.68975-38G= (n.68975-38G=)
c.90470-38G= (n.90470-38G=)
c.90467-38G= (n.90467-38G=)
c.89900-38G= (n.89900-38G=)
c.87242-38G= (n.87242-38G=)
c.87161-38G= (n.87161-38G=)
c.68924-38G= (n.68924-38G=)
c.58778-38G= (n.58778-38G=)
2g.178544153C>GCA538435160TTN,TTN-AS1c.88325-38G>C (n.88325-38G>C)
c.69410-38G>C (n.69410-38G>C)
c.69209-38G>C (n.69209-38G>C)
c.68834-38G>C (n.68834-38G>C)
c.96029-38G>C (n.96029-38G>C)
c.91106-38G>C (n.91106-38G>C)
n.446+20517C>G
n.2043+1792C>G
c.95126-38G>C (n.95126-38G>C)
c.69020-38G>C (n.69020-38G>C)
c.68879-38G>C (n.68879-38G>C)
c.94922-38G>C (n.94922-38G>C)
c.90320-38G>C (n.90320-38G>C)
c.90317-38G>C (n.90317-38G>C)
c.87359-38G>C (n.87359-38G>C)
c.68975-38G>C (n.68975-38G>C)
c.90470-38G>C (n.90470-38G>C)
c.90467-38G>C (n.90467-38G>C)
c.89900-38G>C (n.89900-38G>C)
c.87242-38G>C (n.87242-38G>C)
c.87161-38G>C (n.87161-38G>C)
c.68924-38G>C (n.68924-38G>C)
c.58778-38G>C (n.58778-38G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.178544153C>TCA2662123772TTN,TTN-AS1c.88325-38G>A (n.88325-38G>A)
c.69410-38G>A (n.69410-38G>A)
c.69209-38G>A (n.69209-38G>A)
c.68834-38G>A (n.68834-38G>A)
c.96029-38G>A (n.96029-38G>A)
c.91106-38G>A (n.91106-38G>A)
n.446+20517C>T
n.2043+1792C>T
c.95126-38G>A (n.95126-38G>A)
c.69020-38G>A (n.69020-38G>A)
c.68879-38G>A (n.68879-38G>A)
c.94922-38G>A (n.94922-38G>A)
c.90320-38G>A (n.90320-38G>A)
c.90317-38G>A (n.90317-38G>A)
c.87359-38G>A (n.87359-38G>A)
c.68975-38G>A (n.68975-38G>A)
c.90470-38G>A (n.90470-38G>A)
c.90467-38G>A (n.90467-38G>A)
c.89900-38G>A (n.89900-38G>A)
c.87242-38G>A (n.87242-38G>A)
c.87161-38G>A (n.87161-38G>A)
c.68924-38G>A (n.68924-38G>A)
c.58778-38G>A (n.58778-38G>A)
 gnomAD v4
2g.178544154A=CA1310521372TTN,TTN-AS1c.88325-39T= (n.88325-39T=)
c.69410-39T= (n.69410-39T=)
c.69209-39T= (n.69209-39T=)
c.68834-39T= (n.68834-39T=)
c.96029-39T= (n.96029-39T=)
c.91106-39T= (n.91106-39T=)
n.446+20518A=
n.2043+1793A=
c.95126-39T= (n.95126-39T=)
c.69020-39T= (n.69020-39T=)
c.68879-39T= (n.68879-39T=)
c.94922-39T= (n.94922-39T=)
c.90320-39T= (n.90320-39T=)
c.90317-39T= (n.90317-39T=)
c.87359-39T= (n.87359-39T=)
c.68975-39T= (n.68975-39T=)
c.90470-39T= (n.90470-39T=)
c.90467-39T= (n.90467-39T=)
c.89900-39T= (n.89900-39T=)
c.87242-39T= (n.87242-39T=)
c.87161-39T= (n.87161-39T=)
c.68924-39T= (n.68924-39T=)
c.58778-39T= (n.58778-39T=)
2g.178544154A>GCA1310521373TTN,TTN-AS1c.88325-39T>C (n.88325-39T>C)
c.69410-39T>C (n.69410-39T>C)
c.69209-39T>C (n.69209-39T>C)
c.68834-39T>C (n.68834-39T>C)
c.96029-39T>C (n.96029-39T>C)
c.91106-39T>C (n.91106-39T>C)
n.446+20518A>G
n.2043+1793A>G
c.95126-39T>C (n.95126-39T>C)
c.69020-39T>C (n.69020-39T>C)
c.68879-39T>C (n.68879-39T>C)
c.94922-39T>C (n.94922-39T>C)
c.90320-39T>C (n.90320-39T>C)
c.90317-39T>C (n.90317-39T>C)
c.87359-39T>C (n.87359-39T>C)
c.68975-39T>C (n.68975-39T>C)
c.90470-39T>C (n.90470-39T>C)
c.90467-39T>C (n.90467-39T>C)
c.89900-39T>C (n.89900-39T>C)
c.87242-39T>C (n.87242-39T>C)
c.87161-39T>C (n.87161-39T>C)
c.68924-39T>C (n.68924-39T>C)
c.58778-39T>C (n.58778-39T>C)
 dbSNP
2g.178544155G>ACA2662123774TTN,TTN-AS1c.88325-40C>T (n.88325-40C>T)
c.69410-40C>T (n.69410-40C>T)
c.69209-40C>T (n.69209-40C>T)
c.68834-40C>T (n.68834-40C>T)
c.96029-40C>T (n.96029-40C>T)
c.91106-40C>T (n.91106-40C>T)
n.446+20519G>A
n.2043+1794G>A
c.95126-40C>T (n.95126-40C>T)
c.69020-40C>T (n.69020-40C>T)
c.68879-40C>T (n.68879-40C>T)
c.94922-40C>T (n.94922-40C>T)
c.90320-40C>T (n.90320-40C>T)
c.90317-40C>T (n.90317-40C>T)
c.87359-40C>T (n.87359-40C>T)
c.68975-40C>T (n.68975-40C>T)
c.90470-40C>T (n.90470-40C>T)
c.90467-40C>T (n.90467-40C>T)
c.89900-40C>T (n.89900-40C>T)
c.87242-40C>T (n.87242-40C>T)
c.87161-40C>T (n.87161-40C>T)
c.68924-40C>T (n.68924-40C>T)
c.58778-40C>T (n.58778-40C>T)
 gnomAD v4
2g.178544156G>ACA2577170225TTN,TTN-AS1c.88325-41C>T (n.88325-41C>T)
c.69410-41C>T (n.69410-41C>T)
c.69209-41C>T (n.69209-41C>T)
c.68834-41C>T (n.68834-41C>T)
c.96029-41C>T (n.96029-41C>T)
c.91106-41C>T (n.91106-41C>T)
n.446+20520G>A
n.2043+1795G>A
c.95126-41C>T (n.95126-41C>T)
c.69020-41C>T (n.69020-41C>T)
c.68879-41C>T (n.68879-41C>T)
c.94922-41C>T (n.94922-41C>T)
c.90320-41C>T (n.90320-41C>T)
c.90317-41C>T (n.90317-41C>T)
c.87359-41C>T (n.87359-41C>T)
c.68975-41C>T (n.68975-41C>T)
c.90470-41C>T (n.90470-41C>T)
c.90467-41C>T (n.90467-41C>T)
c.89900-41C>T (n.89900-41C>T)
c.87242-41C>T (n.87242-41C>T)
c.87161-41C>T (n.87161-41C>T)
c.68924-41C>T (n.68924-41C>T)
c.58778-41C>T (n.58778-41C>T)
 gnomAD v4
2g.178544156G>CCA2662123777TTN,TTN-AS1c.88325-41C>G (n.88325-41C>G)
c.69410-41C>G (n.69410-41C>G)
c.69209-41C>G (n.69209-41C>G)
c.68834-41C>G (n.68834-41C>G)
c.96029-41C>G (n.96029-41C>G)
c.91106-41C>G (n.91106-41C>G)
n.446+20520G>C
n.2043+1795G>C
c.95126-41C>G (n.95126-41C>G)
c.69020-41C>G (n.69020-41C>G)
c.68879-41C>G (n.68879-41C>G)
c.94922-41C>G (n.94922-41C>G)
c.90320-41C>G (n.90320-41C>G)
c.90317-41C>G (n.90317-41C>G)
c.87359-41C>G (n.87359-41C>G)
c.68975-41C>G (n.68975-41C>G)
c.90470-41C>G (n.90470-41C>G)
c.90467-41C>G (n.90467-41C>G)
c.89900-41C>G (n.89900-41C>G)
c.87242-41C>G (n.87242-41C>G)
c.87161-41C>G (n.87161-41C>G)
c.68924-41C>G (n.68924-41C>G)
c.58778-41C>G (n.58778-41C>G)
 gnomAD v4
2g.178544158G>ACA538435163TTN,TTN-AS1c.88325-43C>T (n.88325-43C>T)
c.69410-43C>T (n.69410-43C>T)
c.69209-43C>T (n.69209-43C>T)
c.68834-43C>T (n.68834-43C>T)
c.96029-43C>T (n.96029-43C>T)
c.91106-43C>T (n.91106-43C>T)
n.446+20522G>A
n.2043+1797G>A
c.95126-43C>T (n.95126-43C>T)
c.69020-43C>T (n.69020-43C>T)
c.68879-43C>T (n.68879-43C>T)
c.94922-43C>T (n.94922-43C>T)
c.90320-43C>T (n.90320-43C>T)
c.90317-43C>T (n.90317-43C>T)
c.87359-43C>T (n.87359-43C>T)
c.68975-43C>T (n.68975-43C>T)
c.90470-43C>T (n.90470-43C>T)
c.90467-43C>T (n.90467-43C>T)
c.89900-43C>T (n.89900-43C>T)
c.87242-43C>T (n.87242-43C>T)
c.87161-43C>T (n.87161-43C>T)
c.68924-43C>T (n.68924-43C>T)
c.58778-43C>T (n.58778-43C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178544158G=CA1310521375TTN,TTN-AS1c.88325-43C= (n.88325-43C=)
c.69410-43C= (n.69410-43C=)
c.69209-43C= (n.69209-43C=)
c.68834-43C= (n.68834-43C=)
c.96029-43C= (n.96029-43C=)
c.91106-43C= (n.91106-43C=)
n.446+20522G=
n.2043+1797G=
c.95126-43C= (n.95126-43C=)
c.69020-43C= (n.69020-43C=)
c.68879-43C= (n.68879-43C=)
c.94922-43C= (n.94922-43C=)
c.90320-43C= (n.90320-43C=)
c.90317-43C= (n.90317-43C=)
c.87359-43C= (n.87359-43C=)
c.68975-43C= (n.68975-43C=)
c.90470-43C= (n.90470-43C=)
c.90467-43C= (n.90467-43C=)
c.89900-43C= (n.89900-43C=)
c.87242-43C= (n.87242-43C=)
c.87161-43C= (n.87161-43C=)
c.68924-43C= (n.68924-43C=)
c.58778-43C= (n.58778-43C=)
2g.178544159T>ACA538435164TTN,TTN-AS1c.88324+42A>T (n.88324+42A>T)
c.69409+42A>T (n.69409+42A>T)
c.69208+42A>T (n.69208+42A>T)
c.68833+42A>T (n.68833+42A>T)
c.96028+42A>T (n.96028+42A>T)
c.91105+42A>T (n.91105+42A>T)
n.446+20523T>A
n.2043+1798T>A
c.95125+42A>T (n.95125+42A>T)
c.69019+42A>T (n.69019+42A>T)
c.68878+42A>T (n.68878+42A>T)
c.94921+42A>T (n.94921+42A>T)
c.90319+42A>T (n.90319+42A>T)
c.90316+42A>T (n.90316+42A>T)
c.87358+42A>T (n.87358+42A>T)
c.68974+42A>T (n.68974+42A>T)
c.90469+42A>T (n.90469+42A>T)
c.90466+42A>T (n.90466+42A>T)
c.89899+42A>T (n.89899+42A>T)
c.87241+42A>T (n.87241+42A>T)
c.87160+42A>T (n.87160+42A>T)
c.68923+42A>T (n.68923+42A>T)
c.58777+42A>T (n.58777+42A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.178544159T=CA1310521377TTN,TTN-AS1c.88324+42A= (n.88324+42A=)
c.69409+42A= (n.69409+42A=)
c.69208+42A= (n.69208+42A=)
c.68833+42A= (n.68833+42A=)
c.96028+42A= (n.96028+42A=)
c.91105+42A= (n.91105+42A=)
n.446+20523T=
n.2043+1798T=
c.95125+42A= (n.95125+42A=)
c.69019+42A= (n.69019+42A=)
c.68878+42A= (n.68878+42A=)
c.94921+42A= (n.94921+42A=)
c.90319+42A= (n.90319+42A=)
c.90316+42A= (n.90316+42A=)
c.87358+42A= (n.87358+42A=)
c.68974+42A= (n.68974+42A=)
c.90469+42A= (n.90469+42A=)
c.90466+42A= (n.90466+42A=)
c.89899+42A= (n.89899+42A=)
c.87241+42A= (n.87241+42A=)
c.87160+42A= (n.87160+42A=)
c.68923+42A= (n.68923+42A=)
c.58777+42A= (n.58777+42A=)
2g.178544160_178544163delinsGAGACA1310521378TTN,TTN-AS1c.88324+38_88324+41delinsTCTC (n.88324+38_88324+41delinsTCTC)
c.69409+38_69409+41delinsTCTC (n.69409+38_69409+41delinsTCTC)
c.69208+38_69208+41delinsTCTC (n.69208+38_69208+41delinsTCTC)
c.68833+38_68833+41delinsTCTC (n.68833+38_68833+41delinsTCTC)
c.96028+38_96028+41delinsTCTC (n.96028+38_96028+41delinsTCTC)
c.91105+38_91105+41delinsTCTC (n.91105+38_91105+41delinsTCTC)
n.446+20524_446+20527delinsGAGA
n.2043+1799_2043+1802delinsGAGA
c.95125+38_95125+41delinsTCTC (n.95125+38_95125+41delinsTCTC)
c.69019+38_69019+41delinsTCTC (n.69019+38_69019+41delinsTCTC)
c.68878+38_68878+41delinsTCTC (n.68878+38_68878+41delinsTCTC)
c.94921+38_94921+41delinsTCTC (n.94921+38_94921+41delinsTCTC)
c.90319+38_90319+41delinsTCTC (n.90319+38_90319+41delinsTCTC)
c.90316+38_90316+41delinsTCTC (n.90316+38_90316+41delinsTCTC)
c.87358+38_87358+41delinsTCTC (n.87358+38_87358+41delinsTCTC)
c.68974+38_68974+41delinsTCTC (n.68974+38_68974+41delinsTCTC)
c.90469+38_90469+41delinsTCTC (n.90469+38_90469+41delinsTCTC)
c.90466+38_90466+41delinsTCTC (n.90466+38_90466+41delinsTCTC)
c.89899+38_89899+41delinsTCTC (n.89899+38_89899+41delinsTCTC)
c.87241+38_87241+41delinsTCTC (n.87241+38_87241+41delinsTCTC)
c.87160+38_87160+41delinsTCTC (n.87160+38_87160+41delinsTCTC)
c.68923+38_68923+41delinsTCTC (n.68923+38_68923+41delinsTCTC)
c.58777+38_58777+41delinsTCTC (n.58777+38_58777+41delinsTCTC)
2g.178544165_178544167delCA1986826TTN,TTN-AS1c.88324+38_88324+40del (n.88324+38_88324+40del)
c.69409+38_69409+40del (n.69409+38_69409+40del)
c.69208+38_69208+40del (n.69208+38_69208+40del)
c.68833+38_68833+40del (n.68833+38_68833+40del)
c.96028+38_96028+40del (n.96028+38_96028+40del)
c.91105+38_91105+40del (n.91105+38_91105+40del)
n.446+20529_446+20531del
n.2043+1804_2043+1806del
c.95125+38_95125+40del (n.95125+38_95125+40del)
c.69019+38_69019+40del (n.69019+38_69019+40del)
c.68878+38_68878+40del (n.68878+38_68878+40del)
c.94921+38_94921+40del (n.94921+38_94921+40del)
c.90319+38_90319+40del (n.90319+38_90319+40del)
c.90316+38_90316+40del (n.90316+38_90316+40del)
c.87358+38_87358+40del (n.87358+38_87358+40del)
c.68974+38_68974+40del (n.68974+38_68974+40del)
c.90469+38_90469+40del (n.90469+38_90469+40del)
c.90466+38_90466+40del (n.90466+38_90466+40del)
c.89899+38_89899+40del (n.89899+38_89899+40del)
c.87241+38_87241+40del (n.87241+38_87241+40del)
c.87160+38_87160+40del (n.87160+38_87160+40del)
c.68923+38_68923+40del (n.68923+38_68923+40del)
c.58777+38_58777+40del (n.58777+38_58777+40del)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544166A=CA1310521379TTN,TTN-AS1c.88324+35T= (n.88324+35T=)
c.69409+35T= (n.69409+35T=)
c.69208+35T= (n.69208+35T=)
c.68833+35T= (n.68833+35T=)
c.96028+35T= (n.96028+35T=)
c.91105+35T= (n.91105+35T=)
n.446+20530A=
n.2043+1805A=
c.95125+35T= (n.95125+35T=)
c.69019+35T= (n.69019+35T=)
c.68878+35T= (n.68878+35T=)
c.94921+35T= (n.94921+35T=)
c.90319+35T= (n.90319+35T=)
c.90316+35T= (n.90316+35T=)
c.87358+35T= (n.87358+35T=)
c.68974+35T= (n.68974+35T=)
c.90469+35T= (n.90469+35T=)
c.90466+35T= (n.90466+35T=)
c.89899+35T= (n.89899+35T=)
c.87241+35T= (n.87241+35T=)
c.87160+35T= (n.87160+35T=)
c.68923+35T= (n.68923+35T=)
c.58777+35T= (n.58777+35T=)
2g.178544166A>CCA1986827TTN,TTN-AS1c.88324+35T>G (n.88324+35T>G)
c.69409+35T>G (n.69409+35T>G)
c.69208+35T>G (n.69208+35T>G)
c.68833+35T>G (n.68833+35T>G)
c.96028+35T>G (n.96028+35T>G)
c.91105+35T>G (n.91105+35T>G)
n.446+20530A>C
n.2043+1805A>C
c.95125+35T>G (n.95125+35T>G)
c.69019+35T>G (n.69019+35T>G)
c.68878+35T>G (n.68878+35T>G)
c.94921+35T>G (n.94921+35T>G)
c.90319+35T>G (n.90319+35T>G)
c.90316+35T>G (n.90316+35T>G)
c.87358+35T>G (n.87358+35T>G)
c.68974+35T>G (n.68974+35T>G)
c.90469+35T>G (n.90469+35T>G)
c.90466+35T>G (n.90466+35T>G)
c.89899+35T>G (n.89899+35T>G)
c.87241+35T>G (n.87241+35T>G)
c.87160+35T>G (n.87160+35T>G)
c.68923+35T>G (n.68923+35T>G)
c.58777+35T>G (n.58777+35T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544168A=CA1310521381TTN,TTN-AS1c.88324+33T= (n.88324+33T=)
c.69409+33T= (n.69409+33T=)
c.69208+33T= (n.69208+33T=)
c.68833+33T= (n.68833+33T=)
c.96028+33T= (n.96028+33T=)
c.91105+33T= (n.91105+33T=)
n.446+20532A=
n.2043+1807A=
c.95125+33T= (n.95125+33T=)
c.69019+33T= (n.69019+33T=)
c.68878+33T= (n.68878+33T=)
c.94921+33T= (n.94921+33T=)
c.90319+33T= (n.90319+33T=)
c.90316+33T= (n.90316+33T=)
c.87358+33T= (n.87358+33T=)
c.68974+33T= (n.68974+33T=)
c.90469+33T= (n.90469+33T=)
c.90466+33T= (n.90466+33T=)
c.89899+33T= (n.89899+33T=)
c.87241+33T= (n.87241+33T=)
c.87160+33T= (n.87160+33T=)
c.68923+33T= (n.68923+33T=)
c.58777+33T= (n.58777+33T=)
2g.178544168A>GCA538435166TTN,TTN-AS1c.88324+33T>C (n.88324+33T>C)
c.69409+33T>C (n.69409+33T>C)
c.69208+33T>C (n.69208+33T>C)
c.68833+33T>C (n.68833+33T>C)
c.96028+33T>C (n.96028+33T>C)
c.91105+33T>C (n.91105+33T>C)
n.446+20532A>G
n.2043+1807A>G
c.95125+33T>C (n.95125+33T>C)
c.69019+33T>C (n.69019+33T>C)
c.68878+33T>C (n.68878+33T>C)
c.94921+33T>C (n.94921+33T>C)
c.90319+33T>C (n.90319+33T>C)
c.90316+33T>C (n.90316+33T>C)
c.87358+33T>C (n.87358+33T>C)
c.68974+33T>C (n.68974+33T>C)
c.90469+33T>C (n.90469+33T>C)
c.90466+33T>C (n.90466+33T>C)
c.89899+33T>C (n.89899+33T>C)
c.87241+33T>C (n.87241+33T>C)
c.87160+33T>C (n.87160+33T>C)
c.68923+33T>C (n.68923+33T>C)
c.58777+33T>C (n.58777+33T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.178544169A=CA1310521382TTN,TTN-AS1c.88324+32T= (n.88324+32T=)
c.69409+32T= (n.69409+32T=)
c.69208+32T= (n.69208+32T=)
c.68833+32T= (n.68833+32T=)
c.96028+32T= (n.96028+32T=)
c.91105+32T= (n.91105+32T=)
n.446+20533A=
n.2043+1808A=
c.95125+32T= (n.95125+32T=)
c.69019+32T= (n.69019+32T=)
c.68878+32T= (n.68878+32T=)
c.94921+32T= (n.94921+32T=)
c.90319+32T= (n.90319+32T=)
c.90316+32T= (n.90316+32T=)
c.87358+32T= (n.87358+32T=)
c.68974+32T= (n.68974+32T=)
c.90469+32T= (n.90469+32T=)
c.90466+32T= (n.90466+32T=)
c.89899+32T= (n.89899+32T=)
c.87241+32T= (n.87241+32T=)
c.87160+32T= (n.87160+32T=)
c.68923+32T= (n.68923+32T=)
c.58777+32T= (n.58777+32T=)
2g.178544169A>GCA1986828TTN,TTN-AS1c.88324+32T>C (n.88324+32T>C)
c.69409+32T>C (n.69409+32T>C)
c.69208+32T>C (n.69208+32T>C)
c.68833+32T>C (n.68833+32T>C)
c.96028+32T>C (n.96028+32T>C)
c.91105+32T>C (n.91105+32T>C)
n.446+20533A>G
n.2043+1808A>G
c.95125+32T>C (n.95125+32T>C)
c.69019+32T>C (n.69019+32T>C)
c.68878+32T>C (n.68878+32T>C)
c.94921+32T>C (n.94921+32T>C)
c.90319+32T>C (n.90319+32T>C)
c.90316+32T>C (n.90316+32T>C)
c.87358+32T>C (n.87358+32T>C)
c.68974+32T>C (n.68974+32T>C)
c.90469+32T>C (n.90469+32T>C)
c.90466+32T>C (n.90466+32T>C)
c.89899+32T>C (n.89899+32T>C)
c.87241+32T>C (n.87241+32T>C)
c.87160+32T>C (n.87160+32T>C)
c.68923+32T>C (n.68923+32T>C)
c.58777+32T>C (n.58777+32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544171A=CA1310521383TTN,TTN-AS1c.88324+30T= (n.88324+30T=)
c.69409+30T= (n.69409+30T=)
c.69208+30T= (n.69208+30T=)
c.68833+30T= (n.68833+30T=)
c.96028+30T= (n.96028+30T=)
c.91105+30T= (n.91105+30T=)
n.446+20535A=
n.2043+1810A=
c.95125+30T= (n.95125+30T=)
c.69019+30T= (n.69019+30T=)
c.68878+30T= (n.68878+30T=)
c.94921+30T= (n.94921+30T=)
c.90319+30T= (n.90319+30T=)
c.90316+30T= (n.90316+30T=)
c.87358+30T= (n.87358+30T=)
c.68974+30T= (n.68974+30T=)
c.90469+30T= (n.90469+30T=)
c.90466+30T= (n.90466+30T=)
c.89899+30T= (n.89899+30T=)
c.87241+30T= (n.87241+30T=)
c.87160+30T= (n.87160+30T=)
c.68923+30T= (n.68923+30T=)
c.58777+30T= (n.58777+30T=)
2g.178544171A>CCA1986829TTN,TTN-AS1c.88324+30T>G (n.88324+30T>G)
c.69409+30T>G (n.69409+30T>G)
c.69208+30T>G (n.69208+30T>G)
c.68833+30T>G (n.68833+30T>G)
c.96028+30T>G (n.96028+30T>G)
c.91105+30T>G (n.91105+30T>G)
n.446+20535A>C
n.2043+1810A>C
c.95125+30T>G (n.95125+30T>G)
c.69019+30T>G (n.69019+30T>G)
c.68878+30T>G (n.68878+30T>G)
c.94921+30T>G (n.94921+30T>G)
c.90319+30T>G (n.90319+30T>G)
c.90316+30T>G (n.90316+30T>G)
c.87358+30T>G (n.87358+30T>G)
c.68974+30T>G (n.68974+30T>G)
c.90469+30T>G (n.90469+30T>G)
c.90466+30T>G (n.90466+30T>G)
c.89899+30T>G (n.89899+30T>G)
c.87241+30T>G (n.87241+30T>G)
c.87160+30T>G (n.87160+30T>G)
c.68923+30T>G (n.68923+30T>G)
c.58777+30T>G (n.58777+30T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178544172A>TCA2662123787TTN,TTN-AS1c.88324+29T>A (n.88324+29T>A)
c.69409+29T>A (n.69409+29T>A)
c.69208+29T>A (n.69208+29T>A)
c.68833+29T>A (n.68833+29T>A)
c.96028+29T>A (n.96028+29T>A)
c.91105+29T>A (n.91105+29T>A)
n.446+20536A>T
n.2043+1811A>T
c.95125+29T>A (n.95125+29T>A)
c.69019+29T>A (n.69019+29T>A)
c.68878+29T>A (n.68878+29T>A)
c.94921+29T>A (n.94921+29T>A)
c.90319+29T>A (n.90319+29T>A)
c.90316+29T>A (n.90316+29T>A)
c.87358+29T>A (n.87358+29T>A)
c.68974+29T>A (n.68974+29T>A)
c.90469+29T>A (n.90469+29T>A)
c.90466+29T>A (n.90466+29T>A)
c.89899+29T>A (n.89899+29T>A)
c.87241+29T>A (n.87241+29T>A)
c.87160+29T>A (n.87160+29T>A)
c.68923+29T>A (n.68923+29T>A)
c.58777+29T>A (n.58777+29T>A)
 gnomAD v4
2g.178544173T>CCA1310521386TTN,TTN-AS1c.88324+28A>G (n.88324+28A>G)
c.69409+28A>G (n.69409+28A>G)
c.69208+28A>G (n.69208+28A>G)
c.68833+28A>G (n.68833+28A>G)
c.96028+28A>G (n.96028+28A>G)
c.91105+28A>G (n.91105+28A>G)
n.446+20537T>C
n.2043+1812T>C
c.95125+28A>G (n.95125+28A>G)
c.69019+28A>G (n.69019+28A>G)
c.68878+28A>G (n.68878+28A>G)
c.94921+28A>G (n.94921+28A>G)
c.90319+28A>G (n.90319+28A>G)
c.90316+28A>G (n.90316+28A>G)
c.87358+28A>G (n.87358+28A>G)
c.68974+28A>G (n.68974+28A>G)
c.90469+28A>G (n.90469+28A>G)
c.90466+28A>G (n.90466+28A>G)
c.89899+28A>G (n.89899+28A>G)
c.87241+28A>G (n.87241+28A>G)
c.87160+28A>G (n.87160+28A>G)
c.68923+28A>G (n.68923+28A>G)
c.58777+28A>G (n.58777+28A>G)
 dbSNP
2g.178544173T=CA1310521385TTN,TTN-AS1c.88324+28A= (n.88324+28A=)
c.69409+28A= (n.69409+28A=)
c.69208+28A= (n.69208+28A=)
c.68833+28A= (n.68833+28A=)
c.96028+28A= (n.96028+28A=)
c.91105+28A= (n.91105+28A=)
n.446+20537T=
n.2043+1812T=
c.95125+28A= (n.95125+28A=)
c.69019+28A= (n.69019+28A=)
c.68878+28A= (n.68878+28A=)
c.94921+28A= (n.94921+28A=)
c.90319+28A= (n.90319+28A=)
c.90316+28A= (n.90316+28A=)
c.87358+28A= (n.87358+28A=)
c.68974+28A= (n.68974+28A=)
c.90469+28A= (n.90469+28A=)
c.90466+28A= (n.90466+28A=)
c.89899+28A= (n.89899+28A=)
c.87241+28A= (n.87241+28A=)
c.87160+28A= (n.87160+28A=)
c.68923+28A= (n.68923+28A=)
c.58777+28A= (n.58777+28A=)
2g.178544175C>ACA761281362TTN,TTN-AS1c.88324+26G>T (n.88324+26G>T)
c.69409+26G>T (n.69409+26G>T)
c.69208+26G>T (n.69208+26G>T)
c.68833+26G>T (n.68833+26G>T)
c.96028+26G>T (n.96028+26G>T)
c.91105+26G>T (n.91105+26G>T)
n.446+20539C>A
n.2043+1814C>A
c.95125+26G>T (n.95125+26G>T)
c.69019+26G>T (n.69019+26G>T)
c.68878+26G>T (n.68878+26G>T)
c.94921+26G>T (n.94921+26G>T)
c.90319+26G>T (n.90319+26G>T)
c.90316+26G>T (n.90316+26G>T)
c.87358+26G>T (n.87358+26G>T)
c.68974+26G>T (n.68974+26G>T)
c.90469+26G>T (n.90469+26G>T)
c.90466+26G>T (n.90466+26G>T)
c.89899+26G>T (n.89899+26G>T)
c.87241+26G>T (n.87241+26G>T)
c.87160+26G>T (n.87160+26G>T)
c.68923+26G>T (n.68923+26G>T)
c.58777+26G>T (n.58777+26G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.178544175C=CA1310521387TTN,TTN-AS1c.88324+26G= (n.88324+26G=)
c.69409+26G= (n.69409+26G=)
c.69208+26G= (n.69208+26G=)
c.68833+26G= (n.68833+26G=)
c.96028+26G= (n.96028+26G=)
c.91105+26G= (n.91105+26G=)
n.446+20539C=
n.2043+1814C=
c.95125+26G= (n.95125+26G=)
c.69019+26G= (n.69019+26G=)
c.68878+26G= (n.68878+26G=)
c.94921+26G= (n.94921+26G=)
c.90319+26G= (n.90319+26G=)
c.90316+26G= (n.90316+26G=)
c.87358+26G= (n.87358+26G=)
c.68974+26G= (n.68974+26G=)
c.90469+26G= (n.90469+26G=)
c.90466+26G= (n.90466+26G=)
c.89899+26G= (n.89899+26G=)
c.87241+26G= (n.87241+26G=)
c.87160+26G= (n.87160+26G=)
c.68923+26G= (n.68923+26G=)
c.58777+26G= (n.58777+26G=)
2g.178544175C>TCA1986830TTN,TTN-AS1c.88324+26G>A (n.88324+26G>A)
c.69409+26G>A (n.69409+26G>A)
c.69208+26G>A (n.69208+26G>A)
c.68833+26G>A (n.68833+26G>A)
c.96028+26G>A (n.96028+26G>A)
c.91105+26G>A (n.91105+26G>A)
n.446+20539C>T
n.2043+1814C>T
c.95125+26G>A (n.95125+26G>A)
c.69019+26G>A (n.69019+26G>A)
c.68878+26G>A (n.68878+26G>A)
c.94921+26G>A (n.94921+26G>A)
c.90319+26G>A (n.90319+26G>A)
c.90316+26G>A (n.90316+26G>A)
c.87358+26G>A (n.87358+26G>A)
c.68974+26G>A (n.68974+26G>A)
c.90469+26G>A (n.90469+26G>A)
c.90466+26G>A (n.90466+26G>A)
c.89899+26G>A (n.89899+26G>A)
c.87241+26G>A (n.87241+26G>A)
c.87160+26G>A (n.87160+26G>A)
c.68923+26G>A (n.68923+26G>A)
c.58777+26G>A (n.58777+26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178544176A>GCA2509456210TTN,TTN-AS1c.88324+25T>C (n.88324+25T>C)
c.69409+25T>C (n.69409+25T>C)
c.69208+25T>C (n.69208+25T>C)
c.68833+25T>C (n.68833+25T>C)
c.96028+25T>C (n.96028+25T>C)
c.91105+25T>C (n.91105+25T>C)
n.446+20540A>G
n.2043+1815A>G
c.95125+25T>C (n.95125+25T>C)
c.69019+25T>C (n.69019+25T>C)
c.68878+25T>C (n.68878+25T>C)
c.94921+25T>C (n.94921+25T>C)
c.90319+25T>C (n.90319+25T>C)
c.90316+25T>C (n.90316+25T>C)
c.87358+25T>C (n.87358+25T>C)
c.68974+25T>C (n.68974+25T>C)
c.90469+25T>C (n.90469+25T>C)
c.90466+25T>C (n.90466+25T>C)
c.89899+25T>C (n.89899+25T>C)
c.87241+25T>C (n.87241+25T>C)
c.87160+25T>C (n.87160+25T>C)
c.68923+25T>C (n.68923+25T>C)
c.58777+25T>C (n.58777+25T>C)
2g.178544177C>ACA2662123788TTN,TTN-AS1c.88324+24G>T (n.88324+24G>T)
c.69409+24G>T (n.69409+24G>T)
c.69208+24G>T (n.69208+24G>T)
c.68833+24G>T (n.68833+24G>T)
c.96028+24G>T (n.96028+24G>T)
c.91105+24G>T (n.91105+24G>T)
n.446+20541C>A
n.2043+1816C>A
c.95125+24G>T (n.95125+24G>T)
c.69019+24G>T (n.69019+24G>T)
c.68878+24G>T (n.68878+24G>T)
c.94921+24G>T (n.94921+24G>T)
c.90319+24G>T (n.90319+24G>T)
c.90316+24G>T (n.90316+24G>T)
c.87358+24G>T (n.87358+24G>T)
c.68974+24G>T (n.68974+24G>T)
c.90469+24G>T (n.90469+24G>T)
c.90466+24G>T (n.90466+24G>T)
c.89899+24G>T (n.89899+24G>T)
c.87241+24G>T (n.87241+24G>T)
c.87160+24G>T (n.87160+24G>T)
c.68923+24G>T (n.68923+24G>T)
c.58777+24G>T (n.58777+24G>T)
 gnomAD v4
2g.178544177C=CA1310521388TTN,TTN-AS1c.88324+24G= (n.88324+24G=)
c.69409+24G= (n.69409+24G=)
c.69208+24G= (n.69208+24G=)
c.68833+24G= (n.68833+24G=)
c.96028+24G= (n.96028+24G=)
c.91105+24G= (n.91105+24G=)
n.446+20541C=
n.2043+1816C=
c.95125+24G= (n.95125+24G=)
c.69019+24G= (n.69019+24G=)
c.68878+24G= (n.68878+24G=)
c.94921+24G= (n.94921+24G=)
c.90319+24G= (n.90319+24G=)
c.90316+24G= (n.90316+24G=)
c.87358+24G= (n.87358+24G=)
c.68974+24G= (n.68974+24G=)
c.90469+24G= (n.90469+24G=)
c.90466+24G= (n.90466+24G=)
c.89899+24G= (n.89899+24G=)
c.87241+24G= (n.87241+24G=)
c.87160+24G= (n.87160+24G=)
c.68923+24G= (n.68923+24G=)
c.58777+24G= (n.58777+24G=)
2g.178544177C>TCA60970475TTN,TTN-AS1c.88324+24G>A (n.88324+24G>A)
c.69409+24G>A (n.69409+24G>A)
c.69208+24G>A (n.69208+24G>A)
c.68833+24G>A (n.68833+24G>A)
c.96028+24G>A (n.96028+24G>A)
c.91105+24G>A (n.91105+24G>A)
n.446+20541C>T
n.2043+1816C>T
c.95125+24G>A (n.95125+24G>A)
c.69019+24G>A (n.69019+24G>A)
c.68878+24G>A (n.68878+24G>A)
c.94921+24G>A (n.94921+24G>A)
c.90319+24G>A (n.90319+24G>A)
c.90316+24G>A (n.90316+24G>A)
c.87358+24G>A (n.87358+24G>A)
c.68974+24G>A (n.68974+24G>A)
c.90469+24G>A (n.90469+24G>A)
c.90466+24G>A (n.90466+24G>A)
c.89899+24G>A (n.89899+24G>A)
c.87241+24G>A (n.87241+24G>A)
c.87160+24G>A (n.87160+24G>A)
c.68923+24G>A (n.68923+24G>A)
c.58777+24G>A (n.58777+24G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.178544178C>TCA2662123789TTN,TTN-AS1c.88324+23G>A (n.88324+23G>A)
c.69409+23G>A (n.69409+23G>A)
c.69208+23G>A (n.69208+23G>A)
c.68833+23G>A (n.68833+23G>A)
c.96028+23G>A (n.96028+23G>A)
c.91105+23G>A (n.91105+23G>A)
n.446+20542C>T
n.2043+1817C>T
c.95125+23G>A (n.95125+23G>A)
c.69019+23G>A (n.69019+23G>A)
c.68878+23G>A (n.68878+23G>A)
c.94921+23G>A (n.94921+23G>A)
c.90319+23G>A (n.90319+23G>A)
c.90316+23G>A (n.90316+23G>A)
c.87358+23G>A (n.87358+23G>A)
c.68974+23G>A (n.68974+23G>A)
c.90469+23G>A (n.90469+23G>A)
c.90466+23G>A (n.90466+23G>A)
c.89899+23G>A (n.89899+23G>A)
c.87241+23G>A (n.87241+23G>A)
c.87160+23G>A (n.87160+23G>A)
c.68923+23G>A (n.68923+23G>A)
c.58777+23G>A (n.58777+23G>A)
 gnomAD v4
2g.178544180A=CA1310521390TTN,TTN-AS1c.88324+21T= (n.88324+21T=)
c.69409+21T= (n.69409+21T=)
c.69208+21T= (n.69208+21T=)
c.68833+21T= (n.68833+21T=)
c.96028+21T= (n.96028+21T=)
c.91105+21T= (n.91105+21T=)
n.446+20544A=
n.2043+1819A=
c.95125+21T= (n.95125+21T=)
c.69019+21T= (n.69019+21T=)
c.68878+21T= (n.68878+21T=)
c.94921+21T= (n.94921+21T=)
c.90319+21T= (n.90319+21T=)
c.90316+21T= (n.90316+21T=)
c.87358+21T= (n.87358+21T=)
c.68974+21T= (n.68974+21T=)
c.90469+21T= (n.90469+21T=)
c.90466+21T= (n.90466+21T=)
c.89899+21T= (n.89899+21T=)
c.87241+21T= (n.87241+21T=)
c.87160+21T= (n.87160+21T=)
c.68923+21T= (n.68923+21T=)
c.58777+21T= (n.58777+21T=)
2g.178544180A>GCA60970476TTN,TTN-AS1c.88324+21T>C (n.88324+21T>C)
c.69409+21T>C (n.69409+21T>C)
c.69208+21T>C (n.69208+21T>C)
c.68833+21T>C (n.68833+21T>C)
c.96028+21T>C (n.96028+21T>C)
c.91105+21T>C (n.91105+21T>C)
n.446+20544A>G
n.2043+1819A>G
c.95125+21T>C (n.95125+21T>C)
c.69019+21T>C (n.69019+21T>C)
c.68878+21T>C (n.68878+21T>C)
c.94921+21T>C (n.94921+21T>C)
c.90319+21T>C (n.90319+21T>C)
c.90316+21T>C (n.90316+21T>C)
c.87358+21T>C (n.87358+21T>C)
c.68974+21T>C (n.68974+21T>C)
c.90469+21T>C (n.90469+21T>C)
c.90466+21T>C (n.90466+21T>C)
c.89899+21T>C (n.89899+21T>C)
c.87241+21T>C (n.87241+21T>C)
c.87160+21T>C (n.87160+21T>C)
c.68923+21T>C (n.68923+21T>C)
c.58777+21T>C (n.58777+21T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178544181A=CA1310521391TTN,TTN-AS1c.88324+20T= (n.88324+20T=)
c.69409+20T= (n.69409+20T=)
c.69208+20T= (n.69208+20T=)
c.68833+20T= (n.68833+20T=)
c.96028+20T= (n.96028+20T=)
c.91105+20T= (n.91105+20T=)
n.446+20545A=
n.2043+1820A=
c.95125+20T= (n.95125+20T=)
c.69019+20T= (n.69019+20T=)
c.68878+20T= (n.68878+20T=)
c.94921+20T= (n.94921+20T=)
c.90319+20T= (n.90319+20T=)
c.90316+20T= (n.90316+20T=)
c.87358+20T= (n.87358+20T=)
c.68974+20T= (n.68974+20T=)
c.90469+20T= (n.90469+20T=)
c.90466+20T= (n.90466+20T=)
c.89899+20T= (n.89899+20T=)
c.87241+20T= (n.87241+20T=)
c.87160+20T= (n.87160+20T=)
c.68923+20T= (n.68923+20T=)
c.58777+20T= (n.58777+20T=)
2g.178544181A>GCA538435172TTN,TTN-AS1c.88324+20T>C (n.88324+20T>C)
c.69409+20T>C (n.69409+20T>C)
c.69208+20T>C (n.69208+20T>C)
c.68833+20T>C (n.68833+20T>C)
c.96028+20T>C (n.96028+20T>C)
c.91105+20T>C (n.91105+20T>C)
n.446+20545A>G
n.2043+1820A>G
c.95125+20T>C (n.95125+20T>C)
c.69019+20T>C (n.69019+20T>C)
c.68878+20T>C (n.68878+20T>C)
c.94921+20T>C (n.94921+20T>C)
c.90319+20T>C (n.90319+20T>C)
c.90316+20T>C (n.90316+20T>C)
c.87358+20T>C (n.87358+20T>C)
c.68974+20T>C (n.68974+20T>C)
c.90469+20T>C (n.90469+20T>C)
c.90466+20T>C (n.90466+20T>C)
c.89899+20T>C (n.89899+20T>C)
c.87241+20T>C (n.87241+20T>C)
c.87160+20T>C (n.87160+20T>C)
c.68923+20T>C (n.68923+20T>C)
c.58777+20T>C (n.58777+20T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.178544182A>CCA2577170226TTN,TTN-AS1c.88324+19T>G (n.88324+19T>G)
c.69409+19T>G (n.69409+19T>G)
c.69208+19T>G (n.69208+19T>G)
c.68833+19T>G (n.68833+19T>G)
c.96028+19T>G (n.96028+19T>G)
c.91105+19T>G (n.91105+19T>G)
n.446+20546A>C
n.2043+1821A>C
c.95125+19T>G (n.95125+19T>G)
c.69019+19T>G (n.69019+19T>G)
c.68878+19T>G (n.68878+19T>G)
c.94921+19T>G (n.94921+19T>G)
c.90319+19T>G (n.90319+19T>G)
c.90316+19T>G (n.90316+19T>G)
c.87358+19T>G (n.87358+19T>G)
c.68974+19T>G (n.68974+19T>G)
c.90469+19T>G (n.90469+19T>G)
c.90466+19T>G (n.90466+19T>G)
c.89899+19T>G (n.89899+19T>G)
c.87241+19T>G (n.87241+19T>G)
c.87160+19T>G (n.87160+19T>G)
c.68923+19T>G (n.68923+19T>G)
c.58777+19T>G (n.58777+19T>G)
2g.178544182A>GCA2570836452TTN,TTN-AS1c.88324+19T>C (n.88324+19T>C)
c.69409+19T>C (n.69409+19T>C)
c.69208+19T>C (n.69208+19T>C)
c.68833+19T>C (n.68833+19T>C)
c.96028+19T>C (n.96028+19T>C)
c.91105+19T>C (n.91105+19T>C)
n.446+20546A>G
n.2043+1821A>G
c.95125+19T>C (n.95125+19T>C)
c.69019+19T>C (n.69019+19T>C)
c.68878+19T>C (n.68878+19T>C)
c.94921+19T>C (n.94921+19T>C)
c.90319+19T>C (n.90319+19T>C)
c.90316+19T>C (n.90316+19T>C)
c.87358+19T>C (n.87358+19T>C)
c.68974+19T>C (n.68974+19T>C)
c.90469+19T>C (n.90469+19T>C)
c.90466+19T>C (n.90466+19T>C)
c.89899+19T>C (n.89899+19T>C)
c.87241+19T>C (n.87241+19T>C)
c.87160+19T>C (n.87160+19T>C)
c.68923+19T>C (n.68923+19T>C)
c.58777+19T>C (n.58777+19T>C)
 gnomAD v4
2g.178544183A>GCA2580064672TTN,TTN-AS1c.88324+18T>C (n.88324+18T>C)
c.69409+18T>C (n.69409+18T>C)
c.69208+18T>C (n.69208+18T>C)
c.68833+18T>C (n.68833+18T>C)
c.96028+18T>C (n.96028+18T>C)
c.91105+18T>C (n.91105+18T>C)
n.446+20547A>G
n.2043+1822A>G
c.95125+18T>C (n.95125+18T>C)
c.69019+18T>C (n.69019+18T>C)
c.68878+18T>C (n.68878+18T>C)
c.94921+18T>C (n.94921+18T>C)
c.90319+18T>C (n.90319+18T>C)
c.90316+18T>C (n.90316+18T>C)
c.87358+18T>C (n.87358+18T>C)
c.68974+18T>C (n.68974+18T>C)
c.90469+18T>C (n.90469+18T>C)
c.90466+18T>C (n.90466+18T>C)
c.89899+18T>C (n.89899+18T>C)
c.87241+18T>C (n.87241+18T>C)
c.87160+18T>C (n.87160+18T>C)
c.68923+18T>C (n.68923+18T>C)
c.58777+18T>C (n.58777+18T>C)
 ClinVar
2g.178544184G>CCA2560871779TTN,TTN-AS1c.88324+17C>G (n.88324+17C>G)
c.69409+17C>G (n.69409+17C>G)
c.69208+17C>G (n.69208+17C>G)
c.68833+17C>G (n.68833+17C>G)
c.96028+17C>G (n.96028+17C>G)
c.91105+17C>G (n.91105+17C>G)
n.446+20548G>C
n.2043+1823G>C
c.95125+17C>G (n.95125+17C>G)
c.69019+17C>G (n.69019+17C>G)
c.68878+17C>G (n.68878+17C>G)
c.94921+17C>G (n.94921+17C>G)
c.90319+17C>G (n.90319+17C>G)
c.90316+17C>G (n.90316+17C>G)
c.87358+17C>G (n.87358+17C>G)
c.68974+17C>G (n.68974+17C>G)
c.90469+17C>G (n.90469+17C>G)
c.90466+17C>G (n.90466+17C>G)
c.89899+17C>G (n.89899+17C>G)
c.87241+17C>G (n.87241+17C>G)
c.87160+17C>G (n.87160+17C>G)
c.68923+17C>G (n.68923+17C>G)
c.58777+17C>G (n.58777+17C>G)
 gnomAD v4
2g.178544184G=CA1310521393TTN,TTN-AS1c.88324+17C= (n.88324+17C=)
c.69409+17C= (n.69409+17C=)
c.69208+17C= (n.69208+17C=)
c.68833+17C= (n.68833+17C=)
c.96028+17C= (n.96028+17C=)
c.91105+17C= (n.91105+17C=)
n.446+20548G=
n.2043+1823G=
c.95125+17C= (n.95125+17C=)
c.69019+17C= (n.69019+17C=)
c.68878+17C= (n.68878+17C=)
c.94921+17C= (n.94921+17C=)
c.90319+17C= (n.90319+17C=)
c.90316+17C= (n.90316+17C=)
c.87358+17C= (n.87358+17C=)
c.68974+17C= (n.68974+17C=)
c.90469+17C= (n.90469+17C=)
c.90466+17C= (n.90466+17C=)
c.89899+17C= (n.89899+17C=)
c.87241+17C= (n.87241+17C=)
c.87160+17C= (n.87160+17C=)
c.68923+17C= (n.68923+17C=)
c.58777+17C= (n.58777+17C=)
2g.178544184G>TCA538435173TTN,TTN-AS1c.88324+17C>A (n.88324+17C>A)
c.69409+17C>A (n.69409+17C>A)
c.69208+17C>A (n.69208+17C>A)
c.68833+17C>A (n.68833+17C>A)
c.96028+17C>A (n.96028+17C>A)
c.91105+17C>A (n.91105+17C>A)
n.446+20548G>T
n.2043+1823G>T
c.95125+17C>A (n.95125+17C>A)
c.69019+17C>A (n.69019+17C>A)
c.68878+17C>A (n.68878+17C>A)
c.94921+17C>A (n.94921+17C>A)
c.90319+17C>A (n.90319+17C>A)
c.90316+17C>A (n.90316+17C>A)
c.87358+17C>A (n.87358+17C>A)
c.68974+17C>A (n.68974+17C>A)
c.90469+17C>A (n.90469+17C>A)
c.90466+17C>A (n.90466+17C>A)
c.89899+17C>A (n.89899+17C>A)
c.87241+17C>A (n.87241+17C>A)
c.87160+17C>A (n.87160+17C>A)
c.68923+17C>A (n.68923+17C>A)
c.58777+17C>A (n.58777+17C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched