Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178530311C>ACA349406214TTN,TTN-AS1c.98600G>T (p.Ser32867Ile)
c.79685G>T (p.Ser26562Ile)
c.79484G>T (p.Ser26495Ile)
c.79109G>T (p.Ser26370Ile)
c.106304G>T (p.Ser35435Ile)
c.101381G>T (p.Ser33794Ile)
n.446+6675C>A
n.220-5421C>A
c.105401G>T (p.Ser35134Ile)
c.79295G>T (p.Ser26432Ile)
c.79154G>T (p.Ser26385Ile)
c.105197G>T (p.Ser35066Ile)
c.100595G>T (p.Ser33532Ile)
c.100592G>T (p.Ser33531Ile)
c.97634G>T (p.Ser32545Ile)
c.79250G>T (p.Ser26417Ile)
c.100745G>T (p.Ser33582Ile)
c.100742G>T (p.Ser33581Ile)
c.100175G>T (p.Ser33392Ile)
c.97517G>T (p.Ser32506Ile)
c.97436G>T (p.Ser32479Ile)
c.79199G>T (p.Ser26400Ile)
c.69053G>T (p.Ser23018Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.178530311C=CA1310514507TTN,TTN-AS1c.98600G= (p.Ser32867=)
c.79685G= (p.Ser26562=)
c.79484G= (p.Ser26495=)
c.79109G= (p.Ser26370=)
c.106304G= (p.Ser35435=)
c.101381G= (p.Ser33794=)
n.446+6675C=
n.220-5421C=
c.105401G= (p.Ser35134=)
c.79295G= (p.Ser26432=)
c.79154G= (p.Ser26385=)
c.105197G= (p.Ser35066=)
c.100595G= (p.Ser33532=)
c.100592G= (p.Ser33531=)
c.97634G= (p.Ser32545=)
c.79250G= (p.Ser26417=)
c.100745G= (p.Ser33582=)
c.100742G= (p.Ser33581=)
c.100175G= (p.Ser33392=)
c.97517G= (p.Ser32506=)
c.97436G= (p.Ser32479=)
c.79199G= (p.Ser26400=)
c.69053G= (p.Ser23018=)
2g.178530311C>GCA349406216TTN,TTN-AS1c.98600G>C (p.Ser32867Thr)
c.79685G>C (p.Ser26562Thr)
c.79484G>C (p.Ser26495Thr)
c.79109G>C (p.Ser26370Thr)
c.106304G>C (p.Ser35435Thr)
c.101381G>C (p.Ser33794Thr)
n.446+6675C>G
n.220-5421C>G
c.105401G>C (p.Ser35134Thr)
c.79295G>C (p.Ser26432Thr)
c.79154G>C (p.Ser26385Thr)
c.105197G>C (p.Ser35066Thr)
c.100595G>C (p.Ser33532Thr)
c.100592G>C (p.Ser33531Thr)
c.97634G>C (p.Ser32545Thr)
c.79250G>C (p.Ser26417Thr)
c.100745G>C (p.Ser33582Thr)
c.100742G>C (p.Ser33581Thr)
c.100175G>C (p.Ser33392Thr)
c.97517G>C (p.Ser32506Thr)
c.97436G>C (p.Ser32479Thr)
c.79199G>C (p.Ser26400Thr)
c.69053G>C (p.Ser23018Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178530311C>TCA349406218TTN,TTN-AS1c.98600G>A (p.Ser32867Asn)
c.79685G>A (p.Ser26562Asn)
c.79484G>A (p.Ser26495Asn)
c.79109G>A (p.Ser26370Asn)
c.106304G>A (p.Ser35435Asn)
c.101381G>A (p.Ser33794Asn)
n.446+6675C>T
n.220-5421C>T
c.105401G>A (p.Ser35134Asn)
c.79295G>A (p.Ser26432Asn)
c.79154G>A (p.Ser26385Asn)
c.105197G>A (p.Ser35066Asn)
c.100595G>A (p.Ser33532Asn)
c.100592G>A (p.Ser33531Asn)
c.97634G>A (p.Ser32545Asn)
c.79250G>A (p.Ser26417Asn)
c.100745G>A (p.Ser33582Asn)
c.100742G>A (p.Ser33581Asn)
c.100175G>A (p.Ser33392Asn)
c.97517G>A (p.Ser32506Asn)
c.97436G>A (p.Ser32479Asn)
c.79199G>A (p.Ser26400Asn)
c.69053G>A (p.Ser23018Asn)
 ClinVar dbSNP gnomAD v4
2g.178530312T>ACA349406222TTN,TTN-AS1c.98599A>T (p.Ser32867Cys)
c.79684A>T (p.Ser26562Cys)
c.79483A>T (p.Ser26495Cys)
c.79108A>T (p.Ser26370Cys)
c.106303A>T (p.Ser35435Cys)
c.101380A>T (p.Ser33794Cys)
n.446+6676T>A
n.220-5420T>A
c.105400A>T (p.Ser35134Cys)
c.79294A>T (p.Ser26432Cys)
c.79153A>T (p.Ser26385Cys)
c.105196A>T (p.Ser35066Cys)
c.100594A>T (p.Ser33532Cys)
c.100591A>T (p.Ser33531Cys)
c.97633A>T (p.Ser32545Cys)
c.79249A>T (p.Ser26417Cys)
c.100744A>T (p.Ser33582Cys)
c.100741A>T (p.Ser33581Cys)
c.100174A>T (p.Ser33392Cys)
c.97516A>T (p.Ser32506Cys)
c.97435A>T (p.Ser32479Cys)
c.79198A>T (p.Ser26400Cys)
c.69052A>T (p.Ser23018Cys)
2g.178530312T>CCA349406226TTN,TTN-AS1c.98599A>G (p.Ser32867Gly)
c.79684A>G (p.Ser26562Gly)
c.79483A>G (p.Ser26495Gly)
c.79108A>G (p.Ser26370Gly)
c.106303A>G (p.Ser35435Gly)
c.101380A>G (p.Ser33794Gly)
n.446+6676T>C
n.220-5420T>C
c.105400A>G (p.Ser35134Gly)
c.79294A>G (p.Ser26432Gly)
c.79153A>G (p.Ser26385Gly)
c.105196A>G (p.Ser35066Gly)
c.100594A>G (p.Ser33532Gly)
c.100591A>G (p.Ser33531Gly)
c.97633A>G (p.Ser32545Gly)
c.79249A>G (p.Ser26417Gly)
c.100744A>G (p.Ser33582Gly)
c.100741A>G (p.Ser33581Gly)
c.100174A>G (p.Ser33392Gly)
c.97516A>G (p.Ser32506Gly)
c.97435A>G (p.Ser32479Gly)
c.79198A>G (p.Ser26400Gly)
c.69052A>G (p.Ser23018Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178530312T>GCA349406227TTN,TTN-AS1c.98599A>C (p.Ser32867Arg)
c.79684A>C (p.Ser26562Arg)
c.79483A>C (p.Ser26495Arg)
c.79108A>C (p.Ser26370Arg)
c.106303A>C (p.Ser35435Arg)
c.101380A>C (p.Ser33794Arg)
n.446+6676T>G
n.220-5420T>G
c.105400A>C (p.Ser35134Arg)
c.79294A>C (p.Ser26432Arg)
c.79153A>C (p.Ser26385Arg)
c.105196A>C (p.Ser35066Arg)
c.100594A>C (p.Ser33532Arg)
c.100591A>C (p.Ser33531Arg)
c.97633A>C (p.Ser32545Arg)
c.79249A>C (p.Ser26417Arg)
c.100744A>C (p.Ser33582Arg)
c.100741A>C (p.Ser33581Arg)
c.100174A>C (p.Ser33392Arg)
c.97516A>C (p.Ser32506Arg)
c.97435A>C (p.Ser32479Arg)
c.79198A>C (p.Ser26400Arg)
c.69052A>C (p.Ser23018Arg)
2g.178530312T=CA1310514508TTN,TTN-AS1c.98599A= (p.Ser32867=)
c.79684A= (p.Ser26562=)
c.79483A= (p.Ser26495=)
c.79108A= (p.Ser26370=)
c.106303A= (p.Ser35435=)
c.101380A= (p.Ser33794=)
n.446+6676T=
n.220-5420T=
c.105400A= (p.Ser35134=)
c.79294A= (p.Ser26432=)
c.79153A= (p.Ser26385=)
c.105196A= (p.Ser35066=)
c.100594A= (p.Ser33532=)
c.100591A= (p.Ser33531=)
c.97633A= (p.Ser32545=)
c.79249A= (p.Ser26417=)
c.100744A= (p.Ser33582=)
c.100741A= (p.Ser33581=)
c.100174A= (p.Ser33392=)
c.97516A= (p.Ser32506=)
c.97435A= (p.Ser32479=)
c.79198A= (p.Ser26400=)
c.69052A= (p.Ser23018=)
2g.178530313G>ACA430235119TTN,TTN-AS1c.98598C>T (p.Asp32866=)
c.79683C>T (p.Asp26561=)
c.79482C>T (p.Asp26494=)
c.79107C>T (p.Asp26369=)
c.106302C>T (p.Asp35434=)
c.101379C>T (p.Asp33793=)
n.446+6677G>A
n.220-5419G>A
c.105399C>T (p.Asp35133=)
c.79293C>T (p.Asp26431=)
c.79152C>T (p.Asp26384=)
c.105195C>T (p.Asp35065=)
c.100593C>T (p.Asp33531=)
c.100590C>T (p.Asp33530=)
c.97632C>T (p.Asp32544=)
c.79248C>T (p.Asp26416=)
c.100743C>T (p.Asp33581=)
c.100740C>T (p.Asp33580=)
c.100173C>T (p.Asp33391=)
c.97515C>T (p.Asp32505=)
c.97434C>T (p.Asp32478=)
c.79197C>T (p.Asp26399=)
c.69051C>T (p.Asp23017=)
 ClinVar dbSNP
2g.178530313G>CCA349406230TTN,TTN-AS1c.98598C>G (p.Asp32866Glu)
c.79683C>G (p.Asp26561Glu)
c.79482C>G (p.Asp26494Glu)
c.79107C>G (p.Asp26369Glu)
c.106302C>G (p.Asp35434Glu)
c.101379C>G (p.Asp33793Glu)
n.446+6677G>C
n.220-5419G>C
c.105399C>G (p.Asp35133Glu)
c.79293C>G (p.Asp26431Glu)
c.79152C>G (p.Asp26384Glu)
c.105195C>G (p.Asp35065Glu)
c.100593C>G (p.Asp33531Glu)
c.100590C>G (p.Asp33530Glu)
c.97632C>G (p.Asp32544Glu)
c.79248C>G (p.Asp26416Glu)
c.100743C>G (p.Asp33581Glu)
c.100740C>G (p.Asp33580Glu)
c.100173C>G (p.Asp33391Glu)
c.97515C>G (p.Asp32505Glu)
c.97434C>G (p.Asp32478Glu)
c.79197C>G (p.Asp26399Glu)
c.69051C>G (p.Asp23017Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530313G=CA1310514509TTN,TTN-AS1c.98598C= (p.Asp32866=)
c.79683C= (p.Asp26561=)
c.79482C= (p.Asp26494=)
c.79107C= (p.Asp26369=)
c.106302C= (p.Asp35434=)
c.101379C= (p.Asp33793=)
n.446+6677G=
n.220-5419G=
c.105399C= (p.Asp35133=)
c.79293C= (p.Asp26431=)
c.79152C= (p.Asp26384=)
c.105195C= (p.Asp35065=)
c.100593C= (p.Asp33531=)
c.100590C= (p.Asp33530=)
c.97632C= (p.Asp32544=)
c.79248C= (p.Asp26416=)
c.100743C= (p.Asp33581=)
c.100740C= (p.Asp33580=)
c.100173C= (p.Asp33391=)
c.97515C= (p.Asp32505=)
c.97434C= (p.Asp32478=)
c.79197C= (p.Asp26399=)
c.69051C= (p.Asp23017=)
2g.178530313G>TCA349406233TTN,TTN-AS1c.98598C>A (p.Asp32866Glu)
c.79683C>A (p.Asp26561Glu)
c.79482C>A (p.Asp26494Glu)
c.79107C>A (p.Asp26369Glu)
c.106302C>A (p.Asp35434Glu)
c.101379C>A (p.Asp33793Glu)
n.446+6677G>T
n.220-5419G>T
c.105399C>A (p.Asp35133Glu)
c.79293C>A (p.Asp26431Glu)
c.79152C>A (p.Asp26384Glu)
c.105195C>A (p.Asp35065Glu)
c.100593C>A (p.Asp33531Glu)
c.100590C>A (p.Asp33530Glu)
c.97632C>A (p.Asp32544Glu)
c.79248C>A (p.Asp26416Glu)
c.100743C>A (p.Asp33581Glu)
c.100740C>A (p.Asp33580Glu)
c.100173C>A (p.Asp33391Glu)
c.97515C>A (p.Asp32505Glu)
c.97434C>A (p.Asp32478Glu)
c.79197C>A (p.Asp26399Glu)
c.69051C>A (p.Asp23017Glu)
2g.178530314T>ACA349406237TTN,TTN-AS1c.98597A>T (p.Asp32866Val)
c.79682A>T (p.Asp26561Val)
c.79481A>T (p.Asp26494Val)
c.79106A>T (p.Asp26369Val)
c.106301A>T (p.Asp35434Val)
c.101378A>T (p.Asp33793Val)
n.446+6678T>A
n.220-5418T>A
c.105398A>T (p.Asp35133Val)
c.79292A>T (p.Asp26431Val)
c.79151A>T (p.Asp26384Val)
c.105194A>T (p.Asp35065Val)
c.100592A>T (p.Asp33531Val)
c.100589A>T (p.Asp33530Val)
c.97631A>T (p.Asp32544Val)
c.79247A>T (p.Asp26416Val)
c.100742A>T (p.Asp33581Val)
c.100739A>T (p.Asp33580Val)
c.100172A>T (p.Asp33391Val)
c.97514A>T (p.Asp32505Val)
c.97433A>T (p.Asp32478Val)
c.79196A>T (p.Asp26399Val)
c.69050A>T (p.Asp23017Val)
2g.178530314T>CCA349406242TTN,TTN-AS1c.98597A>G (p.Asp32866Gly)
c.79682A>G (p.Asp26561Gly)
c.79481A>G (p.Asp26494Gly)
c.79106A>G (p.Asp26369Gly)
c.106301A>G (p.Asp35434Gly)
c.101378A>G (p.Asp33793Gly)
n.446+6678T>C
n.220-5418T>C
c.105398A>G (p.Asp35133Gly)
c.79292A>G (p.Asp26431Gly)
c.79151A>G (p.Asp26384Gly)
c.105194A>G (p.Asp35065Gly)
c.100592A>G (p.Asp33531Gly)
c.100589A>G (p.Asp33530Gly)
c.97631A>G (p.Asp32544Gly)
c.79247A>G (p.Asp26416Gly)
c.100742A>G (p.Asp33581Gly)
c.100739A>G (p.Asp33580Gly)
c.100172A>G (p.Asp33391Gly)
c.97514A>G (p.Asp32505Gly)
c.97433A>G (p.Asp32478Gly)
c.79196A>G (p.Asp26399Gly)
c.69050A>G (p.Asp23017Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530314T>GCA349406239TTN,TTN-AS1c.98597A>C (p.Asp32866Ala)
c.79682A>C (p.Asp26561Ala)
c.79481A>C (p.Asp26494Ala)
c.79106A>C (p.Asp26369Ala)
c.106301A>C (p.Asp35434Ala)
c.101378A>C (p.Asp33793Ala)
n.446+6678T>G
n.220-5418T>G
c.105398A>C (p.Asp35133Ala)
c.79292A>C (p.Asp26431Ala)
c.79151A>C (p.Asp26384Ala)
c.105194A>C (p.Asp35065Ala)
c.100592A>C (p.Asp33531Ala)
c.100589A>C (p.Asp33530Ala)
c.97631A>C (p.Asp32544Ala)
c.79247A>C (p.Asp26416Ala)
c.100742A>C (p.Asp33581Ala)
c.100739A>C (p.Asp33580Ala)
c.100172A>C (p.Asp33391Ala)
c.97514A>C (p.Asp32505Ala)
c.97433A>C (p.Asp32478Ala)
c.79196A>C (p.Asp26399Ala)
c.69050A>C (p.Asp23017Ala)
2g.178530314T=CA1310514510TTN,TTN-AS1c.98597A= (p.Asp32866=)
c.79682A= (p.Asp26561=)
c.79481A= (p.Asp26494=)
c.79106A= (p.Asp26369=)
c.106301A= (p.Asp35434=)
c.101378A= (p.Asp33793=)
n.446+6678T=
n.220-5418T=
c.105398A= (p.Asp35133=)
c.79292A= (p.Asp26431=)
c.79151A= (p.Asp26384=)
c.105194A= (p.Asp35065=)
c.100592A= (p.Asp33531=)
c.100589A= (p.Asp33530=)
c.97631A= (p.Asp32544=)
c.79247A= (p.Asp26416=)
c.100742A= (p.Asp33581=)
c.100739A= (p.Asp33580=)
c.100172A= (p.Asp33391=)
c.97514A= (p.Asp32505=)
c.97433A= (p.Asp32478=)
c.79196A= (p.Asp26399=)
c.69050A= (p.Asp23017=)
2g.178530315C>ACA349406246TTN,TTN-AS1c.98596G>T (p.Asp32866Tyr)
c.79681G>T (p.Asp26561Tyr)
c.79480G>T (p.Asp26494Tyr)
c.79105G>T (p.Asp26369Tyr)
c.106300G>T (p.Asp35434Tyr)
c.101377G>T (p.Asp33793Tyr)
n.446+6679C>A
n.220-5417C>A
c.105397G>T (p.Asp35133Tyr)
c.79291G>T (p.Asp26431Tyr)
c.79150G>T (p.Asp26384Tyr)
c.105193G>T (p.Asp35065Tyr)
c.100591G>T (p.Asp33531Tyr)
c.100588G>T (p.Asp33530Tyr)
c.97630G>T (p.Asp32544Tyr)
c.79246G>T (p.Asp26416Tyr)
c.100741G>T (p.Asp33581Tyr)
c.100738G>T (p.Asp33580Tyr)
c.100171G>T (p.Asp33391Tyr)
c.97513G>T (p.Asp32505Tyr)
c.97432G>T (p.Asp32478Tyr)
c.79195G>T (p.Asp26399Tyr)
c.69049G>T (p.Asp23017Tyr)
 gnomAD v4
2g.178530315C=CA1310514511TTN,TTN-AS1c.98596G= (p.Asp32866=)
c.79681G= (p.Asp26561=)
c.79480G= (p.Asp26494=)
c.79105G= (p.Asp26369=)
c.106300G= (p.Asp35434=)
c.101377G= (p.Asp33793=)
n.446+6679C=
n.220-5417C=
c.105397G= (p.Asp35133=)
c.79291G= (p.Asp26431=)
c.79150G= (p.Asp26384=)
c.105193G= (p.Asp35065=)
c.100591G= (p.Asp33531=)
c.100588G= (p.Asp33530=)
c.97630G= (p.Asp32544=)
c.79246G= (p.Asp26416=)
c.100741G= (p.Asp33581=)
c.100738G= (p.Asp33580=)
c.100171G= (p.Asp33391=)
c.97513G= (p.Asp32505=)
c.97432G= (p.Asp32478=)
c.79195G= (p.Asp26399=)
c.69049G= (p.Asp23017=)
2g.178530315C>GCA1985132TTN,TTN-AS1c.98596G>C (p.Asp32866His)
c.79681G>C (p.Asp26561His)
c.79480G>C (p.Asp26494His)
c.79105G>C (p.Asp26369His)
c.106300G>C (p.Asp35434His)
c.101377G>C (p.Asp33793His)
n.446+6679C>G
n.220-5417C>G
c.105397G>C (p.Asp35133His)
c.79291G>C (p.Asp26431His)
c.79150G>C (p.Asp26384His)
c.105193G>C (p.Asp35065His)
c.100591G>C (p.Asp33531His)
c.100588G>C (p.Asp33530His)
c.97630G>C (p.Asp32544His)
c.79246G>C (p.Asp26416His)
c.100741G>C (p.Asp33581His)
c.100738G>C (p.Asp33580His)
c.100171G>C (p.Asp33391His)
c.97513G>C (p.Asp32505His)
c.97432G>C (p.Asp32478His)
c.79195G>C (p.Asp26399His)
c.69049G>C (p.Asp23017His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530315C>TCA349406248TTN,TTN-AS1c.98596G>A (p.Asp32866Asn)
c.79681G>A (p.Asp26561Asn)
c.79480G>A (p.Asp26494Asn)
c.79105G>A (p.Asp26369Asn)
c.106300G>A (p.Asp35434Asn)
c.101377G>A (p.Asp33793Asn)
n.446+6679C>T
n.220-5417C>T
c.105397G>A (p.Asp35133Asn)
c.79291G>A (p.Asp26431Asn)
c.79150G>A (p.Asp26384Asn)
c.105193G>A (p.Asp35065Asn)
c.100591G>A (p.Asp33531Asn)
c.100588G>A (p.Asp33530Asn)
c.97630G>A (p.Asp32544Asn)
c.79246G>A (p.Asp26416Asn)
c.100741G>A (p.Asp33581Asn)
c.100738G>A (p.Asp33580Asn)
c.100171G>A (p.Asp33391Asn)
c.97513G>A (p.Asp32505Asn)
c.97432G>A (p.Asp32478Asn)
c.79195G>A (p.Asp26399Asn)
c.69049G>A (p.Asp23017Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178530316T>ACA430235123TTN,TTN-AS1c.98595A>T (p.Ser32865=)
c.79680A>T (p.Ser26560=)
c.79479A>T (p.Ser26493=)
c.79104A>T (p.Ser26368=)
c.106299A>T (p.Ser35433=)
c.101376A>T (p.Ser33792=)
n.446+6680T>A
n.220-5416T>A
c.105396A>T (p.Ser35132=)
c.79290A>T (p.Ser26430=)
c.79149A>T (p.Ser26383=)
c.105192A>T (p.Ser35064=)
c.100590A>T (p.Ser33530=)
c.100587A>T (p.Ser33529=)
c.97629A>T (p.Ser32543=)
c.79245A>T (p.Ser26415=)
c.100740A>T (p.Ser33580=)
c.100737A>T (p.Ser33579=)
c.100170A>T (p.Ser33390=)
c.97512A>T (p.Ser32504=)
c.97431A>T (p.Ser32477=)
c.79194A>T (p.Ser26398=)
c.69048A>T (p.Ser23016=)
2g.178530316T>CCA430235124TTN,TTN-AS1c.98595A>G (p.Ser32865=)
c.79680A>G (p.Ser26560=)
c.79479A>G (p.Ser26493=)
c.79104A>G (p.Ser26368=)
c.106299A>G (p.Ser35433=)
c.101376A>G (p.Ser33792=)
n.446+6680T>C
n.220-5416T>C
c.105396A>G (p.Ser35132=)
c.79290A>G (p.Ser26430=)
c.79149A>G (p.Ser26383=)
c.105192A>G (p.Ser35064=)
c.100590A>G (p.Ser33530=)
c.100587A>G (p.Ser33529=)
c.97629A>G (p.Ser32543=)
c.79245A>G (p.Ser26415=)
c.100740A>G (p.Ser33580=)
c.100737A>G (p.Ser33579=)
c.100170A>G (p.Ser33390=)
c.97512A>G (p.Ser32504=)
c.97431A>G (p.Ser32477=)
c.79194A>G (p.Ser26398=)
c.69048A>G (p.Ser23016=)
2g.178530316T>GCA430235125TTN,TTN-AS1c.98595A>C (p.Ser32865=)
c.79680A>C (p.Ser26560=)
c.79479A>C (p.Ser26493=)
c.79104A>C (p.Ser26368=)
c.106299A>C (p.Ser35433=)
c.101376A>C (p.Ser33792=)
n.446+6680T>G
n.220-5416T>G
c.105396A>C (p.Ser35132=)
c.79290A>C (p.Ser26430=)
c.79149A>C (p.Ser26383=)
c.105192A>C (p.Ser35064=)
c.100590A>C (p.Ser33530=)
c.100587A>C (p.Ser33529=)
c.97629A>C (p.Ser32543=)
c.79245A>C (p.Ser26415=)
c.100740A>C (p.Ser33580=)
c.100737A>C (p.Ser33579=)
c.100170A>C (p.Ser33390=)
c.97512A>C (p.Ser32504=)
c.97431A>C (p.Ser32477=)
c.79194A>C (p.Ser26398=)
c.69048A>C (p.Ser23016=)
2g.178530316_178530319delinsTGAACA1310514512TTN,TTN-AS1c.98592_98595delinsTTCA (p.Ser32864=)
c.79677_79680delinsTTCA (p.Ser26559=)
c.79476_79479delinsTTCA (p.Ser26492=)
c.79101_79104delinsTTCA (p.Ser26367=)
c.106296_106299delinsTTCA (p.Ser35432=)
c.101373_101376delinsTTCA (p.Ser33791=)
n.446+6680_446+6683delinsTGAA
n.220-5416_220-5413delinsTGAA
c.105393_105396delinsTTCA (p.Ser35131=)
c.79287_79290delinsTTCA (p.Ser26429=)
c.79146_79149delinsTTCA (p.Ser26382=)
c.105189_105192delinsTTCA (p.Ser35063=)
c.100587_100590delinsTTCA (p.Ser33529=)
c.100584_100587delinsTTCA (p.Ser33528=)
c.97626_97629delinsTTCA (p.Ser32542=)
c.79242_79245delinsTTCA (p.Ser26414=)
c.100737_100740delinsTTCA (p.Ser33579=)
c.100734_100737delinsTTCA (p.Ser33578=)
c.100167_100170delinsTTCA (p.Ser33389=)
c.97509_97512delinsTTCA (p.Ser32503=)
c.97428_97431delinsTTCA (p.Ser32476=)
c.79191_79194delinsTTCA (p.Ser26397=)
c.69045_69048delinsTTCA (p.Ser23015=)
2g.178530317G>ACA349406257TTN,TTN-AS1c.98594C>T (p.Ser32865Leu)
c.79679C>T (p.Ser26560Leu)
c.79478C>T (p.Ser26493Leu)
c.79103C>T (p.Ser26368Leu)
c.106298C>T (p.Ser35433Leu)
c.101375C>T (p.Ser33792Leu)
n.446+6681G>A
n.220-5415G>A
c.105395C>T (p.Ser35132Leu)
c.79289C>T (p.Ser26430Leu)
c.79148C>T (p.Ser26383Leu)
c.105191C>T (p.Ser35064Leu)
c.100589C>T (p.Ser33530Leu)
c.100586C>T (p.Ser33529Leu)
c.97628C>T (p.Ser32543Leu)
c.79244C>T (p.Ser26415Leu)
c.100739C>T (p.Ser33580Leu)
c.100736C>T (p.Ser33579Leu)
c.100169C>T (p.Ser33390Leu)
c.97511C>T (p.Ser32504Leu)
c.97430C>T (p.Ser32477Leu)
c.79193C>T (p.Ser26398Leu)
c.69047C>T (p.Ser23016Leu)
 gnomAD v4
2g.178530317G>CCA349406258TTN,TTN-AS1c.98594C>G (p.Ser32865Ter)
c.79679C>G (p.Ser26560Ter)
c.79478C>G (p.Ser26493Ter)
c.79103C>G (p.Ser26368Ter)
c.106298C>G (p.Ser35433Ter)
c.101375C>G (p.Ser33792Ter)
n.446+6681G>C
n.220-5415G>C
c.105395C>G (p.Ser35132Ter)
c.79289C>G (p.Ser26430Ter)
c.79148C>G (p.Ser26383Ter)
c.105191C>G (p.Ser35064Ter)
c.100589C>G (p.Ser33530Ter)
c.100586C>G (p.Ser33529Ter)
c.97628C>G (p.Ser32543Ter)
c.79244C>G (p.Ser26415Ter)
c.100739C>G (p.Ser33580Ter)
c.100736C>G (p.Ser33579Ter)
c.100169C>G (p.Ser33390Ter)
c.97511C>G (p.Ser32504Ter)
c.97430C>G (p.Ser32477Ter)
c.79193C>G (p.Ser26398Ter)
c.69047C>G (p.Ser23016Ter)
2g.178530317G>TCA349406260TTN,TTN-AS1c.98594C>A (p.Ser32865Ter)
c.79679C>A (p.Ser26560Ter)
c.79478C>A (p.Ser26493Ter)
c.79103C>A (p.Ser26368Ter)
c.106298C>A (p.Ser35433Ter)
c.101375C>A (p.Ser33792Ter)
n.446+6681G>T
n.220-5415G>T
c.105395C>A (p.Ser35132Ter)
c.79289C>A (p.Ser26430Ter)
c.79148C>A (p.Ser26383Ter)
c.105191C>A (p.Ser35064Ter)
c.100589C>A (p.Ser33530Ter)
c.100586C>A (p.Ser33529Ter)
c.97628C>A (p.Ser32543Ter)
c.79244C>A (p.Ser26415Ter)
c.100739C>A (p.Ser33580Ter)
c.100736C>A (p.Ser33579Ter)
c.100169C>A (p.Ser33390Ter)
c.97511C>A (p.Ser32504Ter)
c.97430C>A (p.Ser32477Ter)
c.79193C>A (p.Ser26398Ter)
c.69047C>A (p.Ser23016Ter)
2g.178530320_178530322delCA538434976TTN,TTN-AS1c.98592_98594del (p.Ser32865del)
c.79677_79679del (p.Ser26560del)
c.79476_79478del (p.Ser26493del)
c.79101_79103del (p.Ser26368del)
c.106296_106298del (p.Ser35433del)
c.101373_101375del (p.Ser33792del)
n.446+6684_446+6686del
n.220-5412_220-5410del
c.105393_105395del (p.Ser35132del)
c.79287_79289del (p.Ser26430del)
c.79146_79148del (p.Ser26383del)
c.105189_105191del (p.Ser35064del)
c.100587_100589del (p.Ser33530del)
c.100584_100586del (p.Ser33529del)
c.97626_97628del (p.Ser32543del)
c.79242_79244del (p.Ser26415del)
c.100737_100739del (p.Ser33580del)
c.100734_100736del (p.Ser33579del)
c.100167_100169del (p.Ser33390del)
c.97509_97511del (p.Ser32504del)
c.97428_97430del (p.Ser32477del)
c.79191_79193del (p.Ser26398del)
c.69045_69047del (p.Ser23016del)
 dbSNP gnomAD v2 gnomAD v4
2g.178530318A>CCA349406262TTN,TTN-AS1c.98593T>G (p.Ser32865Ala)
c.79678T>G (p.Ser26560Ala)
c.79477T>G (p.Ser26493Ala)
c.79102T>G (p.Ser26368Ala)
c.106297T>G (p.Ser35433Ala)
c.101374T>G (p.Ser33792Ala)
n.446+6682A>C
n.220-5414A>C
c.105394T>G (p.Ser35132Ala)
c.79288T>G (p.Ser26430Ala)
c.79147T>G (p.Ser26383Ala)
c.105190T>G (p.Ser35064Ala)
c.100588T>G (p.Ser33530Ala)
c.100585T>G (p.Ser33529Ala)
c.97627T>G (p.Ser32543Ala)
c.79243T>G (p.Ser26415Ala)
c.100738T>G (p.Ser33580Ala)
c.100735T>G (p.Ser33579Ala)
c.100168T>G (p.Ser33390Ala)
c.97510T>G (p.Ser32504Ala)
c.97429T>G (p.Ser32477Ala)
c.79192T>G (p.Ser26398Ala)
c.69046T>G (p.Ser23016Ala)
2g.178530318A>GCA349406263TTN,TTN-AS1c.98593T>C (p.Ser32865Pro)
c.79678T>C (p.Ser26560Pro)
c.79477T>C (p.Ser26493Pro)
c.79102T>C (p.Ser26368Pro)
c.106297T>C (p.Ser35433Pro)
c.101374T>C (p.Ser33792Pro)
n.446+6682A>G
n.220-5414A>G
c.105394T>C (p.Ser35132Pro)
c.79288T>C (p.Ser26430Pro)
c.79147T>C (p.Ser26383Pro)
c.105190T>C (p.Ser35064Pro)
c.100588T>C (p.Ser33530Pro)
c.100585T>C (p.Ser33529Pro)
c.97627T>C (p.Ser32543Pro)
c.79243T>C (p.Ser26415Pro)
c.100738T>C (p.Ser33580Pro)
c.100735T>C (p.Ser33579Pro)
c.100168T>C (p.Ser33390Pro)
c.97510T>C (p.Ser32504Pro)
c.97429T>C (p.Ser32477Pro)
c.79192T>C (p.Ser26398Pro)
c.69046T>C (p.Ser23016Pro)
2g.178530318A>TCA349406265TTN,TTN-AS1c.98593T>A (p.Ser32865Thr)
c.79678T>A (p.Ser26560Thr)
c.79477T>A (p.Ser26493Thr)
c.79102T>A (p.Ser26368Thr)
c.106297T>A (p.Ser35433Thr)
c.101374T>A (p.Ser33792Thr)
n.446+6682A>T
n.220-5414A>T
c.105394T>A (p.Ser35132Thr)
c.79288T>A (p.Ser26430Thr)
c.79147T>A (p.Ser26383Thr)
c.105190T>A (p.Ser35064Thr)
c.100588T>A (p.Ser33530Thr)
c.100585T>A (p.Ser33529Thr)
c.97627T>A (p.Ser32543Thr)
c.79243T>A (p.Ser26415Thr)
c.100738T>A (p.Ser33580Thr)
c.100735T>A (p.Ser33579Thr)
c.100168T>A (p.Ser33390Thr)
c.97510T>A (p.Ser32504Thr)
c.97429T>A (p.Ser32477Thr)
c.79192T>A (p.Ser26398Thr)
c.69046T>A (p.Ser23016Thr)
2g.178530319A>CCA430235129TTN,TTN-AS1c.98592T>G (p.Ser32864=)
c.79677T>G (p.Ser26559=)
c.79476T>G (p.Ser26492=)
c.79101T>G (p.Ser26367=)
c.106296T>G (p.Ser35432=)
c.101373T>G (p.Ser33791=)
n.446+6683A>C
n.220-5413A>C
c.105393T>G (p.Ser35131=)
c.79287T>G (p.Ser26429=)
c.79146T>G (p.Ser26382=)
c.105189T>G (p.Ser35063=)
c.100587T>G (p.Ser33529=)
c.100584T>G (p.Ser33528=)
c.97626T>G (p.Ser32542=)
c.79242T>G (p.Ser26414=)
c.100737T>G (p.Ser33579=)
c.100734T>G (p.Ser33578=)
c.100167T>G (p.Ser33389=)
c.97509T>G (p.Ser32503=)
c.97428T>G (p.Ser32476=)
c.79191T>G (p.Ser26397=)
c.69045T>G (p.Ser23015=)
2g.178530319A>GCA430235131TTN,TTN-AS1c.98592T>C (p.Ser32864=)
c.79677T>C (p.Ser26559=)
c.79476T>C (p.Ser26492=)
c.79101T>C (p.Ser26367=)
c.106296T>C (p.Ser35432=)
c.101373T>C (p.Ser33791=)
n.446+6683A>G
n.220-5413A>G
c.105393T>C (p.Ser35131=)
c.79287T>C (p.Ser26429=)
c.79146T>C (p.Ser26382=)
c.105189T>C (p.Ser35063=)
c.100587T>C (p.Ser33529=)
c.100584T>C (p.Ser33528=)
c.97626T>C (p.Ser32542=)
c.79242T>C (p.Ser26414=)
c.100737T>C (p.Ser33579=)
c.100734T>C (p.Ser33578=)
c.100167T>C (p.Ser33389=)
c.97509T>C (p.Ser32503=)
c.97428T>C (p.Ser32476=)
c.79191T>C (p.Ser26397=)
c.69045T>C (p.Ser23015=)
 ClinVar
2g.178530319A>TCA430235132TTN,TTN-AS1c.98592T>A (p.Ser32864=)
c.79677T>A (p.Ser26559=)
c.79476T>A (p.Ser26492=)
c.79101T>A (p.Ser26367=)
c.106296T>A (p.Ser35432=)
c.101373T>A (p.Ser33791=)
n.446+6683A>T
n.220-5413A>T
c.105393T>A (p.Ser35131=)
c.79287T>A (p.Ser26429=)
c.79146T>A (p.Ser26382=)
c.105189T>A (p.Ser35063=)
c.100587T>A (p.Ser33529=)
c.100584T>A (p.Ser33528=)
c.97626T>A (p.Ser32542=)
c.79242T>A (p.Ser26414=)
c.100737T>A (p.Ser33579=)
c.100734T>A (p.Ser33578=)
c.100167T>A (p.Ser33389=)
c.97509T>A (p.Ser32503=)
c.97428T>A (p.Ser32476=)
c.79191T>A (p.Ser26397=)
c.69045T>A (p.Ser23015=)
2g.178530320G>ACA349406274TTN,TTN-AS1c.98591C>T (p.Ser32864Phe)
c.79676C>T (p.Ser26559Phe)
c.79475C>T (p.Ser26492Phe)
c.79100C>T (p.Ser26367Phe)
c.106295C>T (p.Ser35432Phe)
c.101372C>T (p.Ser33791Phe)
n.446+6684G>A
n.220-5412G>A
c.105392C>T (p.Ser35131Phe)
c.79286C>T (p.Ser26429Phe)
c.79145C>T (p.Ser26382Phe)
c.105188C>T (p.Ser35063Phe)
c.100586C>T (p.Ser33529Phe)
c.100583C>T (p.Ser33528Phe)
c.97625C>T (p.Ser32542Phe)
c.79241C>T (p.Ser26414Phe)
c.100736C>T (p.Ser33579Phe)
c.100733C>T (p.Ser33578Phe)
c.100166C>T (p.Ser33389Phe)
c.97508C>T (p.Ser32503Phe)
c.97427C>T (p.Ser32476Phe)
c.79190C>T (p.Ser26397Phe)
c.69044C>T (p.Ser23015Phe)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530320G>CCA349406272TTN,TTN-AS1c.98591C>G (p.Ser32864Cys)
c.79676C>G (p.Ser26559Cys)
c.79475C>G (p.Ser26492Cys)
c.79100C>G (p.Ser26367Cys)
c.106295C>G (p.Ser35432Cys)
c.101372C>G (p.Ser33791Cys)
n.446+6684G>C
n.220-5412G>C
c.105392C>G (p.Ser35131Cys)
c.79286C>G (p.Ser26429Cys)
c.79145C>G (p.Ser26382Cys)
c.105188C>G (p.Ser35063Cys)
c.100586C>G (p.Ser33529Cys)
c.100583C>G (p.Ser33528Cys)
c.97625C>G (p.Ser32542Cys)
c.79241C>G (p.Ser26414Cys)
c.100736C>G (p.Ser33579Cys)
c.100733C>G (p.Ser33578Cys)
c.100166C>G (p.Ser33389Cys)
c.97508C>G (p.Ser32503Cys)
c.97427C>G (p.Ser32476Cys)
c.79190C>G (p.Ser26397Cys)
c.69044C>G (p.Ser23015Cys)
2g.178530320G=CA1310514513TTN,TTN-AS1c.98591C= (p.Ser32864=)
c.79676C= (p.Ser26559=)
c.79475C= (p.Ser26492=)
c.79100C= (p.Ser26367=)
c.106295C= (p.Ser35432=)
c.101372C= (p.Ser33791=)
n.446+6684G=
n.220-5412G=
c.105392C= (p.Ser35131=)
c.79286C= (p.Ser26429=)
c.79145C= (p.Ser26382=)
c.105188C= (p.Ser35063=)
c.100586C= (p.Ser33529=)
c.100583C= (p.Ser33528=)
c.97625C= (p.Ser32542=)
c.79241C= (p.Ser26414=)
c.100736C= (p.Ser33579=)
c.100733C= (p.Ser33578=)
c.100166C= (p.Ser33389=)
c.97508C= (p.Ser32503=)
c.97427C= (p.Ser32476=)
c.79190C= (p.Ser26397=)
c.69044C= (p.Ser23015=)
2g.178530320G>TCA1985133TTN,TTN-AS1c.98591C>A (p.Ser32864Tyr)
c.79676C>A (p.Ser26559Tyr)
c.79475C>A (p.Ser26492Tyr)
c.79100C>A (p.Ser26367Tyr)
c.106295C>A (p.Ser35432Tyr)
c.101372C>A (p.Ser33791Tyr)
n.446+6684G>T
n.220-5412G>T
c.105392C>A (p.Ser35131Tyr)
c.79286C>A (p.Ser26429Tyr)
c.79145C>A (p.Ser26382Tyr)
c.105188C>A (p.Ser35063Tyr)
c.100586C>A (p.Ser33529Tyr)
c.100583C>A (p.Ser33528Tyr)
c.97625C>A (p.Ser32542Tyr)
c.79241C>A (p.Ser26414Tyr)
c.100736C>A (p.Ser33579Tyr)
c.100733C>A (p.Ser33578Tyr)
c.100166C>A (p.Ser33389Tyr)
c.97508C>A (p.Ser32503Tyr)
c.97427C>A (p.Ser32476Tyr)
c.79190C>A (p.Ser26397Tyr)
c.69044C>A (p.Ser23015Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530321A>CCA349406277TTN,TTN-AS1c.98590T>G (p.Ser32864Ala)
c.79675T>G (p.Ser26559Ala)
c.79474T>G (p.Ser26492Ala)
c.79099T>G (p.Ser26367Ala)
c.106294T>G (p.Ser35432Ala)
c.101371T>G (p.Ser33791Ala)
n.446+6685A>C
n.220-5411A>C
c.105391T>G (p.Ser35131Ala)
c.79285T>G (p.Ser26429Ala)
c.79144T>G (p.Ser26382Ala)
c.105187T>G (p.Ser35063Ala)
c.100585T>G (p.Ser33529Ala)
c.100582T>G (p.Ser33528Ala)
c.97624T>G (p.Ser32542Ala)
c.79240T>G (p.Ser26414Ala)
c.100735T>G (p.Ser33579Ala)
c.100732T>G (p.Ser33578Ala)
c.100165T>G (p.Ser33389Ala)
c.97507T>G (p.Ser32503Ala)
c.97426T>G (p.Ser32476Ala)
c.79189T>G (p.Ser26397Ala)
c.69043T>G (p.Ser23015Ala)
2g.178530321A>GCA349406280TTN,TTN-AS1c.98590T>C (p.Ser32864Pro)
c.79675T>C (p.Ser26559Pro)
c.79474T>C (p.Ser26492Pro)
c.79099T>C (p.Ser26367Pro)
c.106294T>C (p.Ser35432Pro)
c.101371T>C (p.Ser33791Pro)
n.446+6685A>G
n.220-5411A>G
c.105391T>C (p.Ser35131Pro)
c.79285T>C (p.Ser26429Pro)
c.79144T>C (p.Ser26382Pro)
c.105187T>C (p.Ser35063Pro)
c.100585T>C (p.Ser33529Pro)
c.100582T>C (p.Ser33528Pro)
c.97624T>C (p.Ser32542Pro)
c.79240T>C (p.Ser26414Pro)
c.100735T>C (p.Ser33579Pro)
c.100732T>C (p.Ser33578Pro)
c.100165T>C (p.Ser33389Pro)
c.97507T>C (p.Ser32503Pro)
c.97426T>C (p.Ser32476Pro)
c.79189T>C (p.Ser26397Pro)
c.69043T>C (p.Ser23015Pro)
2g.178530321A>TCA349406281TTN,TTN-AS1c.98590T>A (p.Ser32864Thr)
c.79675T>A (p.Ser26559Thr)
c.79474T>A (p.Ser26492Thr)
c.79099T>A (p.Ser26367Thr)
c.106294T>A (p.Ser35432Thr)
c.101371T>A (p.Ser33791Thr)
n.446+6685A>T
n.220-5411A>T
c.105391T>A (p.Ser35131Thr)
c.79285T>A (p.Ser26429Thr)
c.79144T>A (p.Ser26382Thr)
c.105187T>A (p.Ser35063Thr)
c.100585T>A (p.Ser33529Thr)
c.100582T>A (p.Ser33528Thr)
c.97624T>A (p.Ser32542Thr)
c.79240T>A (p.Ser26414Thr)
c.100735T>A (p.Ser33579Thr)
c.100732T>A (p.Ser33578Thr)
c.100165T>A (p.Ser33389Thr)
c.97507T>A (p.Ser32503Thr)
c.97426T>A (p.Ser32476Thr)
c.79189T>A (p.Ser26397Thr)
c.69043T>A (p.Ser23015Thr)
2g.178530322A=CA1310514514TTN,TTN-AS1c.98589T= (p.Val32863=)
c.79674T= (p.Val26558=)
c.79473T= (p.Val26491=)
c.79098T= (p.Val26366=)
c.106293T= (p.Val35431=)
c.101370T= (p.Val33790=)
n.446+6686A=
n.220-5410A=
c.105390T= (p.Val35130=)
c.79284T= (p.Val26428=)
c.79143T= (p.Val26381=)
c.105186T= (p.Val35062=)
c.100584T= (p.Val33528=)
c.100581T= (p.Val33527=)
c.97623T= (p.Val32541=)
c.79239T= (p.Val26413=)
c.100734T= (p.Val33578=)
c.100731T= (p.Val33577=)
c.100164T= (p.Val33388=)
c.97506T= (p.Val32502=)
c.97425T= (p.Val32475=)
c.79188T= (p.Val26396=)
c.69042T= (p.Val23014=)
2g.178530322A>CCA430235137TTN,TTN-AS1c.98589T>G (p.Val32863=)
c.79674T>G (p.Val26558=)
c.79473T>G (p.Val26491=)
c.79098T>G (p.Val26366=)
c.106293T>G (p.Val35431=)
c.101370T>G (p.Val33790=)
n.446+6686A>C
n.220-5410A>C
c.105390T>G (p.Val35130=)
c.79284T>G (p.Val26428=)
c.79143T>G (p.Val26381=)
c.105186T>G (p.Val35062=)
c.100584T>G (p.Val33528=)
c.100581T>G (p.Val33527=)
c.97623T>G (p.Val32541=)
c.79239T>G (p.Val26413=)
c.100734T>G (p.Val33578=)
c.100731T>G (p.Val33577=)
c.100164T>G (p.Val33388=)
c.97506T>G (p.Val32502=)
c.97425T>G (p.Val32475=)
c.79188T>G (p.Val26396=)
c.69042T>G (p.Val23014=)
2g.178530322A>GCA1985134TTN,TTN-AS1c.98589T>C (p.Val32863=)
c.79674T>C (p.Val26558=)
c.79473T>C (p.Val26491=)
c.79098T>C (p.Val26366=)
c.106293T>C (p.Val35431=)
c.101370T>C (p.Val33790=)
n.446+6686A>G
n.220-5410A>G
c.105390T>C (p.Val35130=)
c.79284T>C (p.Val26428=)
c.79143T>C (p.Val26381=)
c.105186T>C (p.Val35062=)
c.100584T>C (p.Val33528=)
c.100581T>C (p.Val33527=)
c.97623T>C (p.Val32541=)
c.79239T>C (p.Val26413=)
c.100734T>C (p.Val33578=)
c.100731T>C (p.Val33577=)
c.100164T>C (p.Val33388=)
c.97506T>C (p.Val32502=)
c.97425T>C (p.Val32475=)
c.79188T>C (p.Val26396=)
c.69042T>C (p.Val23014=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530322A>TCA430235140TTN,TTN-AS1c.98589T>A (p.Val32863=)
c.79674T>A (p.Val26558=)
c.79473T>A (p.Val26491=)
c.79098T>A (p.Val26366=)
c.106293T>A (p.Val35431=)
c.101370T>A (p.Val33790=)
n.446+6686A>T
n.220-5410A>T
c.105390T>A (p.Val35130=)
c.79284T>A (p.Val26428=)
c.79143T>A (p.Val26381=)
c.105186T>A (p.Val35062=)
c.100584T>A (p.Val33528=)
c.100581T>A (p.Val33527=)
c.97623T>A (p.Val32541=)
c.79239T>A (p.Val26413=)
c.100734T>A (p.Val33578=)
c.100731T>A (p.Val33577=)
c.100164T>A (p.Val33388=)
c.97506T>A (p.Val32502=)
c.97425T>A (p.Val32475=)
c.79188T>A (p.Val26396=)
c.69042T>A (p.Val23014=)
2g.178530323A=CA1310514515TTN,TTN-AS1c.98588T= (p.Val32863=)
c.79673T= (p.Val26558=)
c.79472T= (p.Val26491=)
c.79097T= (p.Val26366=)
c.106292T= (p.Val35431=)
c.101369T= (p.Val33790=)
n.446+6687A=
n.220-5409A=
c.105389T= (p.Val35130=)
c.79283T= (p.Val26428=)
c.79142T= (p.Val26381=)
c.105185T= (p.Val35062=)
c.100583T= (p.Val33528=)
c.100580T= (p.Val33527=)
c.97622T= (p.Val32541=)
c.79238T= (p.Val26413=)
c.100733T= (p.Val33578=)
c.100730T= (p.Val33577=)
c.100163T= (p.Val33388=)
c.97505T= (p.Val32502=)
c.97424T= (p.Val32475=)
c.79187T= (p.Val26396=)
c.69041T= (p.Val23014=)
2g.178530323A>CCA349406287TTN,TTN-AS1c.98588T>G (p.Val32863Gly)
c.79673T>G (p.Val26558Gly)
c.79472T>G (p.Val26491Gly)
c.79097T>G (p.Val26366Gly)
c.106292T>G (p.Val35431Gly)
c.101369T>G (p.Val33790Gly)
n.446+6687A>C
n.220-5409A>C
c.105389T>G (p.Val35130Gly)
c.79283T>G (p.Val26428Gly)
c.79142T>G (p.Val26381Gly)
c.105185T>G (p.Val35062Gly)
c.100583T>G (p.Val33528Gly)
c.100580T>G (p.Val33527Gly)
c.97622T>G (p.Val32541Gly)
c.79238T>G (p.Val26413Gly)
c.100733T>G (p.Val33578Gly)
c.100730T>G (p.Val33577Gly)
c.100163T>G (p.Val33388Gly)
c.97505T>G (p.Val32502Gly)
c.97424T>G (p.Val32475Gly)
c.79187T>G (p.Val26396Gly)
c.69041T>G (p.Val23014Gly)
2g.178530323A>GCA1985135TTN,TTN-AS1c.98588T>C (p.Val32863Ala)
c.79673T>C (p.Val26558Ala)
c.79472T>C (p.Val26491Ala)
c.79097T>C (p.Val26366Ala)
c.106292T>C (p.Val35431Ala)
c.101369T>C (p.Val33790Ala)
n.446+6687A>G
n.220-5409A>G
c.105389T>C (p.Val35130Ala)
c.79283T>C (p.Val26428Ala)
c.79142T>C (p.Val26381Ala)
c.105185T>C (p.Val35062Ala)
c.100583T>C (p.Val33528Ala)
c.100580T>C (p.Val33527Ala)
c.97622T>C (p.Val32541Ala)
c.79238T>C (p.Val26413Ala)
c.100733T>C (p.Val33578Ala)
c.100730T>C (p.Val33577Ala)
c.100163T>C (p.Val33388Ala)
c.97505T>C (p.Val32502Ala)
c.97424T>C (p.Val32475Ala)
c.79187T>C (p.Val26396Ala)
c.69041T>C (p.Val23014Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530323A>TCA349406291TTN,TTN-AS1c.98588T>A (p.Val32863Asp)
c.79673T>A (p.Val26558Asp)
c.79472T>A (p.Val26491Asp)
c.79097T>A (p.Val26366Asp)
c.106292T>A (p.Val35431Asp)
c.101369T>A (p.Val33790Asp)
n.446+6687A>T
n.220-5409A>T
c.105389T>A (p.Val35130Asp)
c.79283T>A (p.Val26428Asp)
c.79142T>A (p.Val26381Asp)
c.105185T>A (p.Val35062Asp)
c.100583T>A (p.Val33528Asp)
c.100580T>A (p.Val33527Asp)
c.97622T>A (p.Val32541Asp)
c.79238T>A (p.Val26413Asp)
c.100733T>A (p.Val33578Asp)
c.100730T>A (p.Val33577Asp)
c.100163T>A (p.Val33388Asp)
c.97505T>A (p.Val32502Asp)
c.97424T>A (p.Val32475Asp)
c.79187T>A (p.Val26396Asp)
c.69041T>A (p.Val23014Asp)
2g.178530324C>ACA349406294TTN,TTN-AS1c.98587G>T (p.Val32863Phe)
c.79672G>T (p.Val26558Phe)
c.79471G>T (p.Val26491Phe)
c.79096G>T (p.Val26366Phe)
c.106291G>T (p.Val35431Phe)
c.101368G>T (p.Val33790Phe)
n.446+6688C>A
n.220-5408C>A
c.105388G>T (p.Val35130Phe)
c.79282G>T (p.Val26428Phe)
c.79141G>T (p.Val26381Phe)
c.105184G>T (p.Val35062Phe)
c.100582G>T (p.Val33528Phe)
c.100579G>T (p.Val33527Phe)
c.97621G>T (p.Val32541Phe)
c.79237G>T (p.Val26413Phe)
c.100732G>T (p.Val33578Phe)
c.100729G>T (p.Val33577Phe)
c.100162G>T (p.Val33388Phe)
c.97504G>T (p.Val32502Phe)
c.97423G>T (p.Val32475Phe)
c.79186G>T (p.Val26396Phe)
c.69040G>T (p.Val23014Phe)
2g.178530324C=CA1310514516TTN,TTN-AS1c.98587G= (p.Val32863=)
c.79672G= (p.Val26558=)
c.79471G= (p.Val26491=)
c.79096G= (p.Val26366=)
c.106291G= (p.Val35431=)
c.101368G= (p.Val33790=)
n.446+6688C=
n.220-5408C=
c.105388G= (p.Val35130=)
c.79282G= (p.Val26428=)
c.79141G= (p.Val26381=)
c.105184G= (p.Val35062=)
c.100582G= (p.Val33528=)
c.100579G= (p.Val33527=)
c.97621G= (p.Val32541=)
c.79237G= (p.Val26413=)
c.100732G= (p.Val33578=)
c.100729G= (p.Val33577=)
c.100162G= (p.Val33388=)
c.97504G= (p.Val32502=)
c.97423G= (p.Val32475=)
c.79186G= (p.Val26396=)
c.69040G= (p.Val23014=)
2g.178530324C>GCA1985136TTN,TTN-AS1c.98587G>C (p.Val32863Leu)
c.79672G>C (p.Val26558Leu)
c.79471G>C (p.Val26491Leu)
c.79096G>C (p.Val26366Leu)
c.106291G>C (p.Val35431Leu)
c.101368G>C (p.Val33790Leu)
n.446+6688C>G
n.220-5408C>G
c.105388G>C (p.Val35130Leu)
c.79282G>C (p.Val26428Leu)
c.79141G>C (p.Val26381Leu)
c.105184G>C (p.Val35062Leu)
c.100582G>C (p.Val33528Leu)
c.100579G>C (p.Val33527Leu)
c.97621G>C (p.Val32541Leu)
c.79237G>C (p.Val26413Leu)
c.100732G>C (p.Val33578Leu)
c.100729G>C (p.Val33577Leu)
c.100162G>C (p.Val33388Leu)
c.97504G>C (p.Val32502Leu)
c.97423G>C (p.Val32475Leu)
c.79186G>C (p.Val26396Leu)
c.69040G>C (p.Val23014Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530324C>TCA349406295TTN,TTN-AS1c.98587G>A (p.Val32863Ile)
c.79672G>A (p.Val26558Ile)
c.79471G>A (p.Val26491Ile)
c.79096G>A (p.Val26366Ile)
c.106291G>A (p.Val35431Ile)
c.101368G>A (p.Val33790Ile)
n.446+6688C>T
n.220-5408C>T
c.105388G>A (p.Val35130Ile)
c.79282G>A (p.Val26428Ile)
c.79141G>A (p.Val26381Ile)
c.105184G>A (p.Val35062Ile)
c.100582G>A (p.Val33528Ile)
c.100579G>A (p.Val33527Ile)
c.97621G>A (p.Val32541Ile)
c.79237G>A (p.Val26413Ile)
c.100732G>A (p.Val33578Ile)
c.100729G>A (p.Val33577Ile)
c.100162G>A (p.Val33388Ile)
c.97504G>A (p.Val32502Ile)
c.97423G>A (p.Val32475Ile)
c.79186G>A (p.Val26396Ile)
c.69040G>A (p.Val23014Ile)
2g.178530325A>CCA430235144TTN,TTN-AS1c.98586T>G (p.Thr32862=)
c.79671T>G (p.Thr26557=)
c.79470T>G (p.Thr26490=)
c.79095T>G (p.Thr26365=)
c.106290T>G (p.Thr35430=)
c.101367T>G (p.Thr33789=)
n.446+6689A>C
n.220-5407A>C
c.105387T>G (p.Thr35129=)
c.79281T>G (p.Thr26427=)
c.79140T>G (p.Thr26380=)
c.105183T>G (p.Thr35061=)
c.100581T>G (p.Thr33527=)
c.100578T>G (p.Thr33526=)
c.97620T>G (p.Thr32540=)
c.79236T>G (p.Thr26412=)
c.100731T>G (p.Thr33577=)
c.100728T>G (p.Thr33576=)
c.100161T>G (p.Thr33387=)
c.97503T>G (p.Thr32501=)
c.97422T>G (p.Thr32474=)
c.79185T>G (p.Thr26395=)
c.69039T>G (p.Thr23013=)
2g.178530325A>GCA430235145TTN,TTN-AS1c.98586T>C (p.Thr32862=)
c.79671T>C (p.Thr26557=)
c.79470T>C (p.Thr26490=)
c.79095T>C (p.Thr26365=)
c.106290T>C (p.Thr35430=)
c.101367T>C (p.Thr33789=)
n.446+6689A>G
n.220-5407A>G
c.105387T>C (p.Thr35129=)
c.79281T>C (p.Thr26427=)
c.79140T>C (p.Thr26380=)
c.105183T>C (p.Thr35061=)
c.100581T>C (p.Thr33527=)
c.100578T>C (p.Thr33526=)
c.97620T>C (p.Thr32540=)
c.79236T>C (p.Thr26412=)
c.100731T>C (p.Thr33577=)
c.100728T>C (p.Thr33576=)
c.100161T>C (p.Thr33387=)
c.97503T>C (p.Thr32501=)
c.97422T>C (p.Thr32474=)
c.79185T>C (p.Thr26395=)
c.69039T>C (p.Thr23013=)
2g.178530325A>TCA430235142TTN,TTN-AS1c.98586T>A (p.Thr32862=)
c.79671T>A (p.Thr26557=)
c.79470T>A (p.Thr26490=)
c.79095T>A (p.Thr26365=)
c.106290T>A (p.Thr35430=)
c.101367T>A (p.Thr33789=)
n.446+6689A>T
n.220-5407A>T
c.105387T>A (p.Thr35129=)
c.79281T>A (p.Thr26427=)
c.79140T>A (p.Thr26380=)
c.105183T>A (p.Thr35061=)
c.100581T>A (p.Thr33527=)
c.100578T>A (p.Thr33526=)
c.97620T>A (p.Thr32540=)
c.79236T>A (p.Thr26412=)
c.100731T>A (p.Thr33577=)
c.100728T>A (p.Thr33576=)
c.100161T>A (p.Thr33387=)
c.97503T>A (p.Thr32501=)
c.97422T>A (p.Thr32474=)
c.79185T>A (p.Thr26395=)
c.69039T>A (p.Thr23013=)
2g.178530326G>ACA349406297TTN,TTN-AS1c.98585C>T (p.Thr32862Ile)
c.79670C>T (p.Thr26557Ile)
c.79469C>T (p.Thr26490Ile)
c.79094C>T (p.Thr26365Ile)
c.106289C>T (p.Thr35430Ile)
c.101366C>T (p.Thr33789Ile)
n.446+6690G>A
n.220-5406G>A
c.105386C>T (p.Thr35129Ile)
c.79280C>T (p.Thr26427Ile)
c.79139C>T (p.Thr26380Ile)
c.105182C>T (p.Thr35061Ile)
c.100580C>T (p.Thr33527Ile)
c.100577C>T (p.Thr33526Ile)
c.97619C>T (p.Thr32540Ile)
c.79235C>T (p.Thr26412Ile)
c.100730C>T (p.Thr33577Ile)
c.100727C>T (p.Thr33576Ile)
c.100160C>T (p.Thr33387Ile)
c.97502C>T (p.Thr32501Ile)
c.97421C>T (p.Thr32474Ile)
c.79184C>T (p.Thr26395Ile)
c.69038C>T (p.Thr23013Ile)
 gnomAD v4
2g.178530326G>CCA349406298TTN,TTN-AS1c.98585C>G (p.Thr32862Ser)
c.79670C>G (p.Thr26557Ser)
c.79469C>G (p.Thr26490Ser)
c.79094C>G (p.Thr26365Ser)
c.106289C>G (p.Thr35430Ser)
c.101366C>G (p.Thr33789Ser)
n.446+6690G>C
n.220-5406G>C
c.105386C>G (p.Thr35129Ser)
c.79280C>G (p.Thr26427Ser)
c.79139C>G (p.Thr26380Ser)
c.105182C>G (p.Thr35061Ser)
c.100580C>G (p.Thr33527Ser)
c.100577C>G (p.Thr33526Ser)
c.97619C>G (p.Thr32540Ser)
c.79235C>G (p.Thr26412Ser)
c.100730C>G (p.Thr33577Ser)
c.100727C>G (p.Thr33576Ser)
c.100160C>G (p.Thr33387Ser)
c.97502C>G (p.Thr32501Ser)
c.97421C>G (p.Thr32474Ser)
c.79184C>G (p.Thr26395Ser)
c.69038C>G (p.Thr23013Ser)
 gnomAD v4
2g.178530326G>TCA349406300TTN,TTN-AS1c.98585C>A (p.Thr32862Asn)
c.79670C>A (p.Thr26557Asn)
c.79469C>A (p.Thr26490Asn)
c.79094C>A (p.Thr26365Asn)
c.106289C>A (p.Thr35430Asn)
c.101366C>A (p.Thr33789Asn)
n.446+6690G>T
n.220-5406G>T
c.105386C>A (p.Thr35129Asn)
c.79280C>A (p.Thr26427Asn)
c.79139C>A (p.Thr26380Asn)
c.105182C>A (p.Thr35061Asn)
c.100580C>A (p.Thr33527Asn)
c.100577C>A (p.Thr33526Asn)
c.97619C>A (p.Thr32540Asn)
c.79235C>A (p.Thr26412Asn)
c.100730C>A (p.Thr33577Asn)
c.100727C>A (p.Thr33576Asn)
c.100160C>A (p.Thr33387Asn)
c.97502C>A (p.Thr32501Asn)
c.97421C>A (p.Thr32474Asn)
c.79184C>A (p.Thr26395Asn)
c.69038C>A (p.Thr23013Asn)
 ClinVar
2g.178530327T>ACA349406304TTN,TTN-AS1c.98584A>T (p.Thr32862Ser)
c.79669A>T (p.Thr26557Ser)
c.79468A>T (p.Thr26490Ser)
c.79093A>T (p.Thr26365Ser)
c.106288A>T (p.Thr35430Ser)
c.101365A>T (p.Thr33789Ser)
n.446+6691T>A
n.220-5405T>A
c.105385A>T (p.Thr35129Ser)
c.79279A>T (p.Thr26427Ser)
c.79138A>T (p.Thr26380Ser)
c.105181A>T (p.Thr35061Ser)
c.100579A>T (p.Thr33527Ser)
c.100576A>T (p.Thr33526Ser)
c.97618A>T (p.Thr32540Ser)
c.79234A>T (p.Thr26412Ser)
c.100729A>T (p.Thr33577Ser)
c.100726A>T (p.Thr33576Ser)
c.100159A>T (p.Thr33387Ser)
c.97501A>T (p.Thr32501Ser)
c.97420A>T (p.Thr32474Ser)
c.79183A>T (p.Thr26395Ser)
c.69037A>T (p.Thr23013Ser)
2g.178530327T>CCA349406308TTN,TTN-AS1c.98584A>G (p.Thr32862Ala)
c.79669A>G (p.Thr26557Ala)
c.79468A>G (p.Thr26490Ala)
c.79093A>G (p.Thr26365Ala)
c.106288A>G (p.Thr35430Ala)
c.101365A>G (p.Thr33789Ala)
n.446+6691T>C
n.220-5405T>C
c.105385A>G (p.Thr35129Ala)
c.79279A>G (p.Thr26427Ala)
c.79138A>G (p.Thr26380Ala)
c.105181A>G (p.Thr35061Ala)
c.100579A>G (p.Thr33527Ala)
c.100576A>G (p.Thr33526Ala)
c.97618A>G (p.Thr32540Ala)
c.79234A>G (p.Thr26412Ala)
c.100729A>G (p.Thr33577Ala)
c.100726A>G (p.Thr33576Ala)
c.100159A>G (p.Thr33387Ala)
c.97501A>G (p.Thr32501Ala)
c.97420A>G (p.Thr32474Ala)
c.79183A>G (p.Thr26395Ala)
c.69037A>G (p.Thr23013Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530327T>GCA349406306TTN,TTN-AS1c.98584A>C (p.Thr32862Pro)
c.79669A>C (p.Thr26557Pro)
c.79468A>C (p.Thr26490Pro)
c.79093A>C (p.Thr26365Pro)
c.106288A>C (p.Thr35430Pro)
c.101365A>C (p.Thr33789Pro)
n.446+6691T>G
n.220-5405T>G
c.105385A>C (p.Thr35129Pro)
c.79279A>C (p.Thr26427Pro)
c.79138A>C (p.Thr26380Pro)
c.105181A>C (p.Thr35061Pro)
c.100579A>C (p.Thr33527Pro)
c.100576A>C (p.Thr33526Pro)
c.97618A>C (p.Thr32540Pro)
c.79234A>C (p.Thr26412Pro)
c.100729A>C (p.Thr33577Pro)
c.100726A>C (p.Thr33576Pro)
c.100159A>C (p.Thr33387Pro)
c.97501A>C (p.Thr32501Pro)
c.97420A>C (p.Thr32474Pro)
c.79183A>C (p.Thr26395Pro)
c.69037A>C (p.Thr23013Pro)
2g.178530327T=CA1310514517TTN,TTN-AS1c.98584A= (p.Thr32862=)
c.79669A= (p.Thr26557=)
c.79468A= (p.Thr26490=)
c.79093A= (p.Thr26365=)
c.106288A= (p.Thr35430=)
c.101365A= (p.Thr33789=)
n.446+6691T=
n.220-5405T=
c.105385A= (p.Thr35129=)
c.79279A= (p.Thr26427=)
c.79138A= (p.Thr26380=)
c.105181A= (p.Thr35061=)
c.100579A= (p.Thr33527=)
c.100576A= (p.Thr33526=)
c.97618A= (p.Thr32540=)
c.79234A= (p.Thr26412=)
c.100729A= (p.Thr33577=)
c.100726A= (p.Thr33576=)
c.100159A= (p.Thr33387=)
c.97501A= (p.Thr32501=)
c.97420A= (p.Thr32474=)
c.79183A= (p.Thr26395=)
c.69037A= (p.Thr23013=)
2g.178530328T>ACA430235153TTN,TTN-AS1c.98583A>T (p.Thr32861=)
c.79668A>T (p.Thr26556=)
c.79467A>T (p.Thr26489=)
c.79092A>T (p.Thr26364=)
c.106287A>T (p.Thr35429=)
c.101364A>T (p.Thr33788=)
n.446+6692T>A
n.220-5404T>A
c.105384A>T (p.Thr35128=)
c.79278A>T (p.Thr26426=)
c.79137A>T (p.Thr26379=)
c.105180A>T (p.Thr35060=)
c.100578A>T (p.Thr33526=)
c.100575A>T (p.Thr33525=)
c.97617A>T (p.Thr32539=)
c.79233A>T (p.Thr26411=)
c.100728A>T (p.Thr33576=)
c.100725A>T (p.Thr33575=)
c.100158A>T (p.Thr33386=)
c.97500A>T (p.Thr32500=)
c.97419A>T (p.Thr32473=)
c.79182A>T (p.Thr26394=)
c.69036A>T (p.Thr23012=)
2g.178530328T>CCA430235151TTN,TTN-AS1c.98583A>G (p.Thr32861=)
c.79668A>G (p.Thr26556=)
c.79467A>G (p.Thr26489=)
c.79092A>G (p.Thr26364=)
c.106287A>G (p.Thr35429=)
c.101364A>G (p.Thr33788=)
n.446+6692T>C
n.220-5404T>C
c.105384A>G (p.Thr35128=)
c.79278A>G (p.Thr26426=)
c.79137A>G (p.Thr26379=)
c.105180A>G (p.Thr35060=)
c.100578A>G (p.Thr33526=)
c.100575A>G (p.Thr33525=)
c.97617A>G (p.Thr32539=)
c.79233A>G (p.Thr26411=)
c.100728A>G (p.Thr33576=)
c.100725A>G (p.Thr33575=)
c.100158A>G (p.Thr33386=)
c.97500A>G (p.Thr32500=)
c.97419A>G (p.Thr32473=)
c.79182A>G (p.Thr26394=)
c.69036A>G (p.Thr23012=)
2g.178530328T>GCA430235150TTN,TTN-AS1c.98583A>C (p.Thr32861=)
c.79668A>C (p.Thr26556=)
c.79467A>C (p.Thr26489=)
c.79092A>C (p.Thr26364=)
c.106287A>C (p.Thr35429=)
c.101364A>C (p.Thr33788=)
n.446+6692T>G
n.220-5404T>G
c.105384A>C (p.Thr35128=)
c.79278A>C (p.Thr26426=)
c.79137A>C (p.Thr26379=)
c.105180A>C (p.Thr35060=)
c.100578A>C (p.Thr33526=)
c.100575A>C (p.Thr33525=)
c.97617A>C (p.Thr32539=)
c.79233A>C (p.Thr26411=)
c.100728A>C (p.Thr33576=)
c.100725A>C (p.Thr33575=)
c.100158A>C (p.Thr33386=)
c.97500A>C (p.Thr32500=)
c.97419A>C (p.Thr32473=)
c.79182A>C (p.Thr26394=)
c.69036A>C (p.Thr23012=)
2g.178530329G>ACA349406310TTN,TTN-AS1c.98582C>T (p.Thr32861Ile)
c.79667C>T (p.Thr26556Ile)
c.79466C>T (p.Thr26489Ile)
c.79091C>T (p.Thr26364Ile)
c.106286C>T (p.Thr35429Ile)
c.101363C>T (p.Thr33788Ile)
n.446+6693G>A
n.220-5403G>A
c.105383C>T (p.Thr35128Ile)
c.79277C>T (p.Thr26426Ile)
c.79136C>T (p.Thr26379Ile)
c.105179C>T (p.Thr35060Ile)
c.100577C>T (p.Thr33526Ile)
c.100574C>T (p.Thr33525Ile)
c.97616C>T (p.Thr32539Ile)
c.79232C>T (p.Thr26411Ile)
c.100727C>T (p.Thr33576Ile)
c.100724C>T (p.Thr33575Ile)
c.100157C>T (p.Thr33386Ile)
c.97499C>T (p.Thr32500Ile)
c.97418C>T (p.Thr32473Ile)
c.79181C>T (p.Thr26394Ile)
c.69035C>T (p.Thr23012Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530329G>CCA349406312TTN,TTN-AS1c.98582C>G (p.Thr32861Arg)
c.79667C>G (p.Thr26556Arg)
c.79466C>G (p.Thr26489Arg)
c.79091C>G (p.Thr26364Arg)
c.106286C>G (p.Thr35429Arg)
c.101363C>G (p.Thr33788Arg)
n.446+6693G>C
n.220-5403G>C
c.105383C>G (p.Thr35128Arg)
c.79277C>G (p.Thr26426Arg)
c.79136C>G (p.Thr26379Arg)
c.105179C>G (p.Thr35060Arg)
c.100577C>G (p.Thr33526Arg)
c.100574C>G (p.Thr33525Arg)
c.97616C>G (p.Thr32539Arg)
c.79232C>G (p.Thr26411Arg)
c.100727C>G (p.Thr33576Arg)
c.100724C>G (p.Thr33575Arg)
c.100157C>G (p.Thr33386Arg)
c.97499C>G (p.Thr32500Arg)
c.97418C>G (p.Thr32473Arg)
c.79181C>G (p.Thr26394Arg)
c.69035C>G (p.Thr23012Arg)
2g.178530329G=CA1310514518TTN,TTN-AS1c.98582C= (p.Thr32861=)
c.79667C= (p.Thr26556=)
c.79466C= (p.Thr26489=)
c.79091C= (p.Thr26364=)
c.106286C= (p.Thr35429=)
c.101363C= (p.Thr33788=)
n.446+6693G=
n.220-5403G=
c.105383C= (p.Thr35128=)
c.79277C= (p.Thr26426=)
c.79136C= (p.Thr26379=)
c.105179C= (p.Thr35060=)
c.100577C= (p.Thr33526=)
c.100574C= (p.Thr33525=)
c.97616C= (p.Thr32539=)
c.79232C= (p.Thr26411=)
c.100727C= (p.Thr33576=)
c.100724C= (p.Thr33575=)
c.100157C= (p.Thr33386=)
c.97499C= (p.Thr32500=)
c.97418C= (p.Thr32473=)
c.79181C= (p.Thr26394=)
c.69035C= (p.Thr23012=)
2g.178530329G>TCA349406313TTN,TTN-AS1c.98582C>A (p.Thr32861Lys)
c.79667C>A (p.Thr26556Lys)
c.79466C>A (p.Thr26489Lys)
c.79091C>A (p.Thr26364Lys)
c.106286C>A (p.Thr35429Lys)
c.101363C>A (p.Thr33788Lys)
n.446+6693G>T
n.220-5403G>T
c.105383C>A (p.Thr35128Lys)
c.79277C>A (p.Thr26426Lys)
c.79136C>A (p.Thr26379Lys)
c.105179C>A (p.Thr35060Lys)
c.100577C>A (p.Thr33526Lys)
c.100574C>A (p.Thr33525Lys)
c.97616C>A (p.Thr32539Lys)
c.79232C>A (p.Thr26411Lys)
c.100727C>A (p.Thr33576Lys)
c.100724C>A (p.Thr33575Lys)
c.100157C>A (p.Thr33386Lys)
c.97499C>A (p.Thr32500Lys)
c.97418C>A (p.Thr32473Lys)
c.79181C>A (p.Thr26394Lys)
c.69035C>A (p.Thr23012Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178530330T>ACA60953294TTN,TTN-AS1c.98581A>T (p.Thr32861Ser)
c.79666A>T (p.Thr26556Ser)
c.79465A>T (p.Thr26489Ser)
c.79090A>T (p.Thr26364Ser)
c.106285A>T (p.Thr35429Ser)
c.101362A>T (p.Thr33788Ser)
n.446+6694T>A
n.220-5402T>A
c.105382A>T (p.Thr35128Ser)
c.79276A>T (p.Thr26426Ser)
c.79135A>T (p.Thr26379Ser)
c.105178A>T (p.Thr35060Ser)
c.100576A>T (p.Thr33526Ser)
c.100573A>T (p.Thr33525Ser)
c.97615A>T (p.Thr32539Ser)
c.79231A>T (p.Thr26411Ser)
c.100726A>T (p.Thr33576Ser)
c.100723A>T (p.Thr33575Ser)
c.100156A>T (p.Thr33386Ser)
c.97498A>T (p.Thr32500Ser)
c.97417A>T (p.Thr32473Ser)
c.79180A>T (p.Thr26394Ser)
c.69034A>T (p.Thr23012Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530330T>CCA349406316TTN,TTN-AS1c.98581A>G (p.Thr32861Ala)
c.79666A>G (p.Thr26556Ala)
c.79465A>G (p.Thr26489Ala)
c.79090A>G (p.Thr26364Ala)
c.106285A>G (p.Thr35429Ala)
c.101362A>G (p.Thr33788Ala)
n.446+6694T>C
n.220-5402T>C
c.105382A>G (p.Thr35128Ala)
c.79276A>G (p.Thr26426Ala)
c.79135A>G (p.Thr26379Ala)
c.105178A>G (p.Thr35060Ala)
c.100576A>G (p.Thr33526Ala)
c.100573A>G (p.Thr33525Ala)
c.97615A>G (p.Thr32539Ala)
c.79231A>G (p.Thr26411Ala)
c.100726A>G (p.Thr33576Ala)
c.100723A>G (p.Thr33575Ala)
c.100156A>G (p.Thr33386Ala)
c.97498A>G (p.Thr32500Ala)
c.97417A>G (p.Thr32473Ala)
c.79180A>G (p.Thr26394Ala)
c.69034A>G (p.Thr23012Ala)
 gnomAD v4
2g.178530330T>GCA349406317TTN,TTN-AS1c.98581A>C (p.Thr32861Pro)
c.79666A>C (p.Thr26556Pro)
c.79465A>C (p.Thr26489Pro)
c.79090A>C (p.Thr26364Pro)
c.106285A>C (p.Thr35429Pro)
c.101362A>C (p.Thr33788Pro)
n.446+6694T>G
n.220-5402T>G
c.105382A>C (p.Thr35128Pro)
c.79276A>C (p.Thr26426Pro)
c.79135A>C (p.Thr26379Pro)
c.105178A>C (p.Thr35060Pro)
c.100576A>C (p.Thr33526Pro)
c.100573A>C (p.Thr33525Pro)
c.97615A>C (p.Thr32539Pro)
c.79231A>C (p.Thr26411Pro)
c.100726A>C (p.Thr33576Pro)
c.100723A>C (p.Thr33575Pro)
c.100156A>C (p.Thr33386Pro)
c.97498A>C (p.Thr32500Pro)
c.97417A>C (p.Thr32473Pro)
c.79180A>C (p.Thr26394Pro)
c.69034A>C (p.Thr23012Pro)
2g.178530330T=CA1310514519TTN,TTN-AS1c.98581A= (p.Thr32861=)
c.79666A= (p.Thr26556=)
c.79465A= (p.Thr26489=)
c.79090A= (p.Thr26364=)
c.106285A= (p.Thr35429=)
c.101362A= (p.Thr33788=)
n.446+6694T=
n.220-5402T=
c.105382A= (p.Thr35128=)
c.79276A= (p.Thr26426=)
c.79135A= (p.Thr26379=)
c.105178A= (p.Thr35060=)
c.100576A= (p.Thr33526=)
c.100573A= (p.Thr33525=)
c.97615A= (p.Thr32539=)
c.79231A= (p.Thr26411=)
c.100726A= (p.Thr33576=)
c.100723A= (p.Thr33575=)
c.100156A= (p.Thr33386=)
c.97498A= (p.Thr32500=)
c.97417A= (p.Thr32473=)
c.79180A= (p.Thr26394=)
c.69034A= (p.Thr23012=)
2g.178530331A>CCA349406319TTN,TTN-AS1c.98580T>G (p.Asp32860Glu)
c.79665T>G (p.Asp26555Glu)
c.79464T>G (p.Asp26488Glu)
c.79089T>G (p.Asp26363Glu)
c.106284T>G (p.Asp35428Glu)
c.101361T>G (p.Asp33787Glu)
n.446+6695A>C
n.220-5401A>C
c.105381T>G (p.Asp35127Glu)
c.79275T>G (p.Asp26425Glu)
c.79134T>G (p.Asp26378Glu)
c.105177T>G (p.Asp35059Glu)
c.100575T>G (p.Asp33525Glu)
c.100572T>G (p.Asp33524Glu)
c.97614T>G (p.Asp32538Glu)
c.79230T>G (p.Asp26410Glu)
c.100725T>G (p.Asp33575Glu)
c.100722T>G (p.Asp33574Glu)
c.100155T>G (p.Asp33385Glu)
c.97497T>G (p.Asp32499Glu)
c.97416T>G (p.Asp32472Glu)
c.79179T>G (p.Asp26393Glu)
c.69033T>G (p.Asp23011Glu)
2g.178530331A>GCA430235158TTN,TTN-AS1c.98580T>C (p.Asp32860=)
c.79665T>C (p.Asp26555=)
c.79464T>C (p.Asp26488=)
c.79089T>C (p.Asp26363=)
c.106284T>C (p.Asp35428=)
c.101361T>C (p.Asp33787=)
n.446+6695A>G
n.220-5401A>G
c.105381T>C (p.Asp35127=)
c.79275T>C (p.Asp26425=)
c.79134T>C (p.Asp26378=)
c.105177T>C (p.Asp35059=)
c.100575T>C (p.Asp33525=)
c.100572T>C (p.Asp33524=)
c.97614T>C (p.Asp32538=)
c.79230T>C (p.Asp26410=)
c.100725T>C (p.Asp33575=)
c.100722T>C (p.Asp33574=)
c.100155T>C (p.Asp33385=)
c.97497T>C (p.Asp32499=)
c.97416T>C (p.Asp32472=)
c.79179T>C (p.Asp26393=)
c.69033T>C (p.Asp23011=)
2g.178530331A>TCA349406320TTN,TTN-AS1c.98580T>A (p.Asp32860Glu)
c.79665T>A (p.Asp26555Glu)
c.79464T>A (p.Asp26488Glu)
c.79089T>A (p.Asp26363Glu)
c.106284T>A (p.Asp35428Glu)
c.101361T>A (p.Asp33787Glu)
n.446+6695A>T
n.220-5401A>T
c.105381T>A (p.Asp35127Glu)
c.79275T>A (p.Asp26425Glu)
c.79134T>A (p.Asp26378Glu)
c.105177T>A (p.Asp35059Glu)
c.100575T>A (p.Asp33525Glu)
c.100572T>A (p.Asp33524Glu)
c.97614T>A (p.Asp32538Glu)
c.79230T>A (p.Asp26410Glu)
c.100725T>A (p.Asp33575Glu)
c.100722T>A (p.Asp33574Glu)
c.100155T>A (p.Asp33385Glu)
c.97497T>A (p.Asp32499Glu)
c.97416T>A (p.Asp32472Glu)
c.79179T>A (p.Asp26393Glu)
c.69033T>A (p.Asp23011Glu)
2g.178530332T>ACA1985137TTN,TTN-AS1c.98579A>T (p.Asp32860Val)
c.79664A>T (p.Asp26555Val)
c.79463A>T (p.Asp26488Val)
c.79088A>T (p.Asp26363Val)
c.106283A>T (p.Asp35428Val)
c.101360A>T (p.Asp33787Val)
n.446+6696T>A
n.220-5400T>A
c.105380A>T (p.Asp35127Val)
c.79274A>T (p.Asp26425Val)
c.79133A>T (p.Asp26378Val)
c.105176A>T (p.Asp35059Val)
c.100574A>T (p.Asp33525Val)
c.100571A>T (p.Asp33524Val)
c.97613A>T (p.Asp32538Val)
c.79229A>T (p.Asp26410Val)
c.100724A>T (p.Asp33575Val)
c.100721A>T (p.Asp33574Val)
c.100154A>T (p.Asp33385Val)
c.97496A>T (p.Asp32499Val)
c.97415A>T (p.Asp32472Val)
c.79178A>T (p.Asp26393Val)
c.69032A>T (p.Asp23011Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530332T>CCA349406323TTN,TTN-AS1c.98579A>G (p.Asp32860Gly)
c.79664A>G (p.Asp26555Gly)
c.79463A>G (p.Asp26488Gly)
c.79088A>G (p.Asp26363Gly)
c.106283A>G (p.Asp35428Gly)
c.101360A>G (p.Asp33787Gly)
n.446+6696T>C
n.220-5400T>C
c.105380A>G (p.Asp35127Gly)
c.79274A>G (p.Asp26425Gly)
c.79133A>G (p.Asp26378Gly)
c.105176A>G (p.Asp35059Gly)
c.100574A>G (p.Asp33525Gly)
c.100571A>G (p.Asp33524Gly)
c.97613A>G (p.Asp32538Gly)
c.79229A>G (p.Asp26410Gly)
c.100724A>G (p.Asp33575Gly)
c.100721A>G (p.Asp33574Gly)
c.100154A>G (p.Asp33385Gly)
c.97496A>G (p.Asp32499Gly)
c.97415A>G (p.Asp32472Gly)
c.79178A>G (p.Asp26393Gly)
c.69032A>G (p.Asp23011Gly)
2g.178530332T>GCA349406325TTN,TTN-AS1c.98579A>C (p.Asp32860Ala)
c.79664A>C (p.Asp26555Ala)
c.79463A>C (p.Asp26488Ala)
c.79088A>C (p.Asp26363Ala)
c.106283A>C (p.Asp35428Ala)
c.101360A>C (p.Asp33787Ala)
n.446+6696T>G
n.220-5400T>G
c.105380A>C (p.Asp35127Ala)
c.79274A>C (p.Asp26425Ala)
c.79133A>C (p.Asp26378Ala)
c.105176A>C (p.Asp35059Ala)
c.100574A>C (p.Asp33525Ala)
c.100571A>C (p.Asp33524Ala)
c.97613A>C (p.Asp32538Ala)
c.79229A>C (p.Asp26410Ala)
c.100724A>C (p.Asp33575Ala)
c.100721A>C (p.Asp33574Ala)
c.100154A>C (p.Asp33385Ala)
c.97496A>C (p.Asp32499Ala)
c.97415A>C (p.Asp32472Ala)
c.79178A>C (p.Asp26393Ala)
c.69032A>C (p.Asp23011Ala)
2g.178530332T=CA1310514520TTN,TTN-AS1c.98579A= (p.Asp32860=)
c.79664A= (p.Asp26555=)
c.79463A= (p.Asp26488=)
c.79088A= (p.Asp26363=)
c.106283A= (p.Asp35428=)
c.101360A= (p.Asp33787=)
n.446+6696T=
n.220-5400T=
c.105380A= (p.Asp35127=)
c.79274A= (p.Asp26425=)
c.79133A= (p.Asp26378=)
c.105176A= (p.Asp35059=)
c.100574A= (p.Asp33525=)
c.100571A= (p.Asp33524=)
c.97613A= (p.Asp32538=)
c.79229A= (p.Asp26410=)
c.100724A= (p.Asp33575=)
c.100721A= (p.Asp33574=)
c.100154A= (p.Asp33385=)
c.97496A= (p.Asp32499=)
c.97415A= (p.Asp32472=)
c.79178A= (p.Asp26393=)
c.69032A= (p.Asp23011=)
2g.178530333C>ACA349406328TTN,TTN-AS1c.98578G>T (p.Asp32860Tyr)
c.79663G>T (p.Asp26555Tyr)
c.79462G>T (p.Asp26488Tyr)
c.79087G>T (p.Asp26363Tyr)
c.106282G>T (p.Asp35428Tyr)
c.101359G>T (p.Asp33787Tyr)
n.446+6697C>A
n.220-5399C>A
c.105379G>T (p.Asp35127Tyr)
c.79273G>T (p.Asp26425Tyr)
c.79132G>T (p.Asp26378Tyr)
c.105175G>T (p.Asp35059Tyr)
c.100573G>T (p.Asp33525Tyr)
c.100570G>T (p.Asp33524Tyr)
c.97612G>T (p.Asp32538Tyr)
c.79228G>T (p.Asp26410Tyr)
c.100723G>T (p.Asp33575Tyr)
c.100720G>T (p.Asp33574Tyr)
c.100153G>T (p.Asp33385Tyr)
c.97495G>T (p.Asp32499Tyr)
c.97414G>T (p.Asp32472Tyr)
c.79177G>T (p.Asp26393Tyr)
c.69031G>T (p.Asp23011Tyr)
2g.178530333C>GCA349406330TTN,TTN-AS1c.98578G>C (p.Asp32860His)
c.79663G>C (p.Asp26555His)
c.79462G>C (p.Asp26488His)
c.79087G>C (p.Asp26363His)
c.106282G>C (p.Asp35428His)
c.101359G>C (p.Asp33787His)
n.446+6697C>G
n.220-5399C>G
c.105379G>C (p.Asp35127His)
c.79273G>C (p.Asp26425His)
c.79132G>C (p.Asp26378His)
c.105175G>C (p.Asp35059His)
c.100573G>C (p.Asp33525His)
c.100570G>C (p.Asp33524His)
c.97612G>C (p.Asp32538His)
c.79228G>C (p.Asp26410His)
c.100723G>C (p.Asp33575His)
c.100720G>C (p.Asp33574His)
c.100153G>C (p.Asp33385His)
c.97495G>C (p.Asp32499His)
c.97414G>C (p.Asp32472His)
c.79177G>C (p.Asp26393His)
c.69031G>C (p.Asp23011His)
2g.178530333C>TCA349406327TTN,TTN-AS1c.98578G>A (p.Asp32860Asn)
c.79663G>A (p.Asp26555Asn)
c.79462G>A (p.Asp26488Asn)
c.79087G>A (p.Asp26363Asn)
c.106282G>A (p.Asp35428Asn)
c.101359G>A (p.Asp33787Asn)
n.446+6697C>T
n.220-5399C>T
c.105379G>A (p.Asp35127Asn)
c.79273G>A (p.Asp26425Asn)
c.79132G>A (p.Asp26378Asn)
c.105175G>A (p.Asp35059Asn)
c.100573G>A (p.Asp33525Asn)
c.100570G>A (p.Asp33524Asn)
c.97612G>A (p.Asp32538Asn)
c.79228G>A (p.Asp26410Asn)
c.100723G>A (p.Asp33575Asn)
c.100720G>A (p.Asp33574Asn)
c.100153G>A (p.Asp33385Asn)
c.97495G>A (p.Asp32499Asn)
c.97414G>A (p.Asp32472Asn)
c.79177G>A (p.Asp26393Asn)
c.69031G>A (p.Asp23011Asn)
2g.178530334C>ACA349406333TTN,TTN-AS1c.98577G>T (p.Gln32859His)
c.79662G>T (p.Gln26554His)
c.79461G>T (p.Gln26487His)
c.79086G>T (p.Gln26362His)
c.106281G>T (p.Gln35427His)
c.101358G>T (p.Gln33786His)
n.446+6698C>A
n.220-5398C>A
c.105378G>T (p.Gln35126His)
c.79272G>T (p.Gln26424His)
c.79131G>T (p.Gln26377His)
c.105174G>T (p.Gln35058His)
c.100572G>T (p.Gln33524His)
c.100569G>T (p.Gln33523His)
c.97611G>T (p.Gln32537His)
c.79227G>T (p.Gln26409His)
c.100722G>T (p.Gln33574His)
c.100719G>T (p.Gln33573His)
c.100152G>T (p.Gln33384His)
c.97494G>T (p.Gln32498His)
c.97413G>T (p.Gln32471His)
c.79176G>T (p.Gln26392His)
c.69030G>T (p.Gln23010His)
2g.178530334C>GCA349406331TTN,TTN-AS1c.98577G>C (p.Gln32859His)
c.79662G>C (p.Gln26554His)
c.79461G>C (p.Gln26487His)
c.79086G>C (p.Gln26362His)
c.106281G>C (p.Gln35427His)
c.101358G>C (p.Gln33786His)
n.446+6698C>G
n.220-5398C>G
c.105378G>C (p.Gln35126His)
c.79272G>C (p.Gln26424His)
c.79131G>C (p.Gln26377His)
c.105174G>C (p.Gln35058His)
c.100572G>C (p.Gln33524His)
c.100569G>C (p.Gln33523His)
c.97611G>C (p.Gln32537His)
c.79227G>C (p.Gln26409His)
c.100722G>C (p.Gln33574His)
c.100719G>C (p.Gln33573His)
c.100152G>C (p.Gln33384His)
c.97494G>C (p.Gln32498His)
c.97413G>C (p.Gln32471His)
c.79176G>C (p.Gln26392His)
c.69030G>C (p.Gln23010His)
2g.178530334C>TCA430235164TTN,TTN-AS1c.98577G>A (p.Gln32859=)
c.79662G>A (p.Gln26554=)
c.79461G>A (p.Gln26487=)
c.79086G>A (p.Gln26362=)
c.106281G>A (p.Gln35427=)
c.101358G>A (p.Gln33786=)
n.446+6698C>T
n.220-5398C>T
c.105378G>A (p.Gln35126=)
c.79272G>A (p.Gln26424=)
c.79131G>A (p.Gln26377=)
c.105174G>A (p.Gln35058=)
c.100572G>A (p.Gln33524=)
c.100569G>A (p.Gln33523=)
c.97611G>A (p.Gln32537=)
c.79227G>A (p.Gln26409=)
c.100722G>A (p.Gln33574=)
c.100719G>A (p.Gln33573=)
c.100152G>A (p.Gln33384=)
c.97494G>A (p.Gln32498=)
c.97413G>A (p.Gln32471=)
c.79176G>A (p.Gln26392=)
c.69030G>A (p.Gln23010=)
 gnomAD v4
2g.178530335T>ACA349406338TTN,TTN-AS1c.98576A>T (p.Gln32859Leu)
c.79661A>T (p.Gln26554Leu)
c.79460A>T (p.Gln26487Leu)
c.79085A>T (p.Gln26362Leu)
c.106280A>T (p.Gln35427Leu)
c.101357A>T (p.Gln33786Leu)
n.446+6699T>A
n.220-5397T>A
c.105377A>T (p.Gln35126Leu)
c.79271A>T (p.Gln26424Leu)
c.79130A>T (p.Gln26377Leu)
c.105173A>T (p.Gln35058Leu)
c.100571A>T (p.Gln33524Leu)
c.100568A>T (p.Gln33523Leu)
c.97610A>T (p.Gln32537Leu)
c.79226A>T (p.Gln26409Leu)
c.100721A>T (p.Gln33574Leu)
c.100718A>T (p.Gln33573Leu)
c.100151A>T (p.Gln33384Leu)
c.97493A>T (p.Gln32498Leu)
c.97412A>T (p.Gln32471Leu)
c.79175A>T (p.Gln26392Leu)
c.69029A>T (p.Gln23010Leu)
2g.178530335T>CCA349406335TTN,TTN-AS1c.98576A>G (p.Gln32859Arg)
c.79661A>G (p.Gln26554Arg)
c.79460A>G (p.Gln26487Arg)
c.79085A>G (p.Gln26362Arg)
c.106280A>G (p.Gln35427Arg)
c.101357A>G (p.Gln33786Arg)
n.446+6699T>C
n.220-5397T>C
c.105377A>G (p.Gln35126Arg)
c.79271A>G (p.Gln26424Arg)
c.79130A>G (p.Gln26377Arg)
c.105173A>G (p.Gln35058Arg)
c.100571A>G (p.Gln33524Arg)
c.100568A>G (p.Gln33523Arg)
c.97610A>G (p.Gln32537Arg)
c.79226A>G (p.Gln26409Arg)
c.100721A>G (p.Gln33574Arg)
c.100718A>G (p.Gln33573Arg)
c.100151A>G (p.Gln33384Arg)
c.97493A>G (p.Gln32498Arg)
c.97412A>G (p.Gln32471Arg)
c.79175A>G (p.Gln26392Arg)
c.69029A>G (p.Gln23010Arg)
 gnomAD v4
2g.178530335T>GCA349406337TTN,TTN-AS1c.98576A>C (p.Gln32859Pro)
c.79661A>C (p.Gln26554Pro)
c.79460A>C (p.Gln26487Pro)
c.79085A>C (p.Gln26362Pro)
c.106280A>C (p.Gln35427Pro)
c.101357A>C (p.Gln33786Pro)
n.446+6699T>G
n.220-5397T>G
c.105377A>C (p.Gln35126Pro)
c.79271A>C (p.Gln26424Pro)
c.79130A>C (p.Gln26377Pro)
c.105173A>C (p.Gln35058Pro)
c.100571A>C (p.Gln33524Pro)
c.100568A>C (p.Gln33523Pro)
c.97610A>C (p.Gln32537Pro)
c.79226A>C (p.Gln26409Pro)
c.100721A>C (p.Gln33574Pro)
c.100718A>C (p.Gln33573Pro)
c.100151A>C (p.Gln33384Pro)
c.97493A>C (p.Gln32498Pro)
c.97412A>C (p.Gln32471Pro)
c.79175A>C (p.Gln26392Pro)
c.69029A>C (p.Gln23010Pro)
2g.178530336G>ACA349406340TTN,TTN-AS1c.98575C>T (p.Gln32859Ter)
c.79660C>T (p.Gln26554Ter)
c.79459C>T (p.Gln26487Ter)
c.79084C>T (p.Gln26362Ter)
c.106279C>T (p.Gln35427Ter)
c.101356C>T (p.Gln33786Ter)
n.446+6700G>A
n.220-5396G>A
c.105376C>T (p.Gln35126Ter)
c.79270C>T (p.Gln26424Ter)
c.79129C>T (p.Gln26377Ter)
c.105172C>T (p.Gln35058Ter)
c.100570C>T (p.Gln33524Ter)
c.100567C>T (p.Gln33523Ter)
c.97609C>T (p.Gln32537Ter)
c.79225C>T (p.Gln26409Ter)
c.100720C>T (p.Gln33574Ter)
c.100717C>T (p.Gln33573Ter)
c.100150C>T (p.Gln33384Ter)
c.97492C>T (p.Gln32498Ter)
c.97411C>T (p.Gln32471Ter)
c.79174C>T (p.Gln26392Ter)
c.69028C>T (p.Gln23010Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530336G>CCA349406342TTN,TTN-AS1c.98575C>G (p.Gln32859Glu)
c.79660C>G (p.Gln26554Glu)
c.79459C>G (p.Gln26487Glu)
c.79084C>G (p.Gln26362Glu)
c.106279C>G (p.Gln35427Glu)
c.101356C>G (p.Gln33786Glu)
n.446+6700G>C
n.220-5396G>C
c.105376C>G (p.Gln35126Glu)
c.79270C>G (p.Gln26424Glu)
c.79129C>G (p.Gln26377Glu)
c.105172C>G (p.Gln35058Glu)
c.100570C>G (p.Gln33524Glu)
c.100567C>G (p.Gln33523Glu)
c.97609C>G (p.Gln32537Glu)
c.79225C>G (p.Gln26409Glu)
c.100720C>G (p.Gln33574Glu)
c.100717C>G (p.Gln33573Glu)
c.100150C>G (p.Gln33384Glu)
c.97492C>G (p.Gln32498Glu)
c.97411C>G (p.Gln32471Glu)
c.79174C>G (p.Gln26392Glu)
c.69028C>G (p.Gln23010Glu)
2g.178530336G=CA1310514522TTN,TTN-AS1c.98575C= (p.Gln32859=)
c.79660C= (p.Gln26554=)
c.79459C= (p.Gln26487=)
c.79084C= (p.Gln26362=)
c.106279C= (p.Gln35427=)
c.101356C= (p.Gln33786=)
n.446+6700G=
n.220-5396G=
c.105376C= (p.Gln35126=)
c.79270C= (p.Gln26424=)
c.79129C= (p.Gln26377=)
c.105172C= (p.Gln35058=)
c.100570C= (p.Gln33524=)
c.100567C= (p.Gln33523=)
c.97609C= (p.Gln32537=)
c.79225C= (p.Gln26409=)
c.100720C= (p.Gln33574=)
c.100717C= (p.Gln33573=)
c.100150C= (p.Gln33384=)
c.97492C= (p.Gln32498=)
c.97411C= (p.Gln32471=)
c.79174C= (p.Gln26392=)
c.69028C= (p.Gln23010=)
2g.178530336G>TCA349406344TTN,TTN-AS1c.98575C>A (p.Gln32859Lys)
c.79660C>A (p.Gln26554Lys)
c.79459C>A (p.Gln26487Lys)
c.79084C>A (p.Gln26362Lys)
c.106279C>A (p.Gln35427Lys)
c.101356C>A (p.Gln33786Lys)
n.446+6700G>T
n.220-5396G>T
c.105376C>A (p.Gln35126Lys)
c.79270C>A (p.Gln26424Lys)
c.79129C>A (p.Gln26377Lys)
c.105172C>A (p.Gln35058Lys)
c.100570C>A (p.Gln33524Lys)
c.100567C>A (p.Gln33523Lys)
c.97609C>A (p.Gln32537Lys)
c.79225C>A (p.Gln26409Lys)
c.100720C>A (p.Gln33574Lys)
c.100717C>A (p.Gln33573Lys)
c.100150C>A (p.Gln33384Lys)
c.97492C>A (p.Gln32498Lys)
c.97411C>A (p.Gln32471Lys)
c.79174C>A (p.Gln26392Lys)
c.69028C>A (p.Gln23010Lys)
2g.178530337C>ACA349406345TTN,TTN-AS1c.98574G>T (p.Leu32858Phe)
c.79659G>T (p.Leu26553Phe)
c.79458G>T (p.Leu26486Phe)
c.79083G>T (p.Leu26361Phe)
c.106278G>T (p.Leu35426Phe)
c.101355G>T (p.Leu33785Phe)
n.446+6701C>A
n.220-5395C>A
c.105375G>T (p.Leu35125Phe)
c.79269G>T (p.Leu26423Phe)
c.79128G>T (p.Leu26376Phe)
c.105171G>T (p.Leu35057Phe)
c.100569G>T (p.Leu33523Phe)
c.100566G>T (p.Leu33522Phe)
c.97608G>T (p.Leu32536Phe)
c.79224G>T (p.Leu26408Phe)
c.100719G>T (p.Leu33573Phe)
c.100716G>T (p.Leu33572Phe)
c.100149G>T (p.Leu33383Phe)
c.97491G>T (p.Leu32497Phe)
c.97410G>T (p.Leu32470Phe)
c.79173G>T (p.Leu26391Phe)
c.69027G>T (p.Leu23009Phe)
2g.178530337C>GCA349406347TTN,TTN-AS1c.98574G>C (p.Leu32858Phe)
c.79659G>C (p.Leu26553Phe)
c.79458G>C (p.Leu26486Phe)
c.79083G>C (p.Leu26361Phe)
c.106278G>C (p.Leu35426Phe)
c.101355G>C (p.Leu33785Phe)
n.446+6701C>G
n.220-5395C>G
c.105375G>C (p.Leu35125Phe)
c.79269G>C (p.Leu26423Phe)
c.79128G>C (p.Leu26376Phe)
c.105171G>C (p.Leu35057Phe)
c.100569G>C (p.Leu33523Phe)
c.100566G>C (p.Leu33522Phe)
c.97608G>C (p.Leu32536Phe)
c.79224G>C (p.Leu26408Phe)
c.100719G>C (p.Leu33573Phe)
c.100716G>C (p.Leu33572Phe)
c.100149G>C (p.Leu33383Phe)
c.97491G>C (p.Leu32497Phe)
c.97410G>C (p.Leu32470Phe)
c.79173G>C (p.Leu26391Phe)
c.69027G>C (p.Leu23009Phe)
2g.178530337C>TCA430235167TTN,TTN-AS1c.98574G>A (p.Leu32858=)
c.79659G>A (p.Leu26553=)
c.79458G>A (p.Leu26486=)
c.79083G>A (p.Leu26361=)
c.106278G>A (p.Leu35426=)
c.101355G>A (p.Leu33785=)
n.446+6701C>T
n.220-5395C>T
c.105375G>A (p.Leu35125=)
c.79269G>A (p.Leu26423=)
c.79128G>A (p.Leu26376=)
c.105171G>A (p.Leu35057=)
c.100569G>A (p.Leu33523=)
c.100566G>A (p.Leu33522=)
c.97608G>A (p.Leu32536=)
c.79224G>A (p.Leu26408=)
c.100719G>A (p.Leu33573=)
c.100716G>A (p.Leu33572=)
c.100149G>A (p.Leu33383=)
c.97491G>A (p.Leu32497=)
c.97410G>A (p.Leu32470=)
c.79173G>A (p.Leu26391=)
c.69027G>A (p.Leu23009=)
2g.178530337_178530338dupCA1039711495TTN,TTN-AS1c.98573_98574dup (p.Gln32859CysfsTer?)
c.79658_79659dup (p.Gln26554CysfsTer?)
c.79457_79458dup (p.Gln26487CysfsTer?)
c.79082_79083dup (p.Gln26362CysfsTer?)
c.106277_106278dup (p.Gln35427CysfsTer?)
c.101354_101355dup (p.Gln33786CysfsTer?)
n.446+6701_446+6702dup
n.220-5395_220-5394dup
c.105374_105375dup (p.Gln35126CysfsTer?)
c.79268_79269dup (p.Gln26424CysfsTer?)
c.79127_79128dup (p.Gln26377CysfsTer?)
c.105170_105171dup (p.Gln35058CysfsTer?)
c.100568_100569dup (p.Gln33524CysfsTer?)
c.100565_100566dup (p.Gln33523CysfsTer?)
c.97607_97608dup (p.Gln32537CysfsTer?)
c.79223_79224dup (p.Gln26409CysfsTer?)
c.100718_100719dup (p.Gln33574CysfsTer?)
c.100715_100716dup (p.Gln33573CysfsTer?)
c.100148_100149dup (p.Gln33384CysfsTer?)
c.97490_97491dup (p.Gln32498CysfsTer?)
c.97409_97410dup (p.Gln32471CysfsTer?)
c.79172_79173dup (p.Gln26392CysfsTer?)
c.69026_69027dup (p.Gln23010CysfsTer?)
 dbSNP gnomAD v3 gnomAD v4
2g.178530338A>CCA349406349TTN,TTN-AS1c.98573T>G (p.Leu32858Trp)
c.79658T>G (p.Leu26553Trp)
c.79457T>G (p.Leu26486Trp)
c.79082T>G (p.Leu26361Trp)
c.106277T>G (p.Leu35426Trp)
c.101354T>G (p.Leu33785Trp)
n.446+6702A>C
n.220-5394A>C
c.105374T>G (p.Leu35125Trp)
c.79268T>G (p.Leu26423Trp)
c.79127T>G (p.Leu26376Trp)
c.105170T>G (p.Leu35057Trp)
c.100568T>G (p.Leu33523Trp)
c.100565T>G (p.Leu33522Trp)
c.97607T>G (p.Leu32536Trp)
c.79223T>G (p.Leu26408Trp)
c.100718T>G (p.Leu33573Trp)
c.100715T>G (p.Leu33572Trp)
c.100148T>G (p.Leu33383Trp)
c.97490T>G (p.Leu32497Trp)
c.97409T>G (p.Leu32470Trp)
c.79172T>G (p.Leu26391Trp)
c.69026T>G (p.Leu23009Trp)
2g.178530338A>GCA349406351TTN,TTN-AS1c.98573T>C (p.Leu32858Ser)
c.79658T>C (p.Leu26553Ser)
c.79457T>C (p.Leu26486Ser)
c.79082T>C (p.Leu26361Ser)
c.106277T>C (p.Leu35426Ser)
c.101354T>C (p.Leu33785Ser)
n.446+6702A>G
n.220-5394A>G
c.105374T>C (p.Leu35125Ser)
c.79268T>C (p.Leu26423Ser)
c.79127T>C (p.Leu26376Ser)
c.105170T>C (p.Leu35057Ser)
c.100568T>C (p.Leu33523Ser)
c.100565T>C (p.Leu33522Ser)
c.97607T>C (p.Leu32536Ser)
c.79223T>C (p.Leu26408Ser)
c.100718T>C (p.Leu33573Ser)
c.100715T>C (p.Leu33572Ser)
c.100148T>C (p.Leu33383Ser)
c.97490T>C (p.Leu32497Ser)
c.97409T>C (p.Leu32470Ser)
c.79172T>C (p.Leu26391Ser)
c.69026T>C (p.Leu23009Ser)
 gnomAD v4
2g.178530338A>TCA349406353TTN,TTN-AS1c.98573T>A (p.Leu32858Ter)
c.79658T>A (p.Leu26553Ter)
c.79457T>A (p.Leu26486Ter)
c.79082T>A (p.Leu26361Ter)
c.106277T>A (p.Leu35426Ter)
c.101354T>A (p.Leu33785Ter)
n.446+6702A>T
n.220-5394A>T
c.105374T>A (p.Leu35125Ter)
c.79268T>A (p.Leu26423Ter)
c.79127T>A (p.Leu26376Ter)
c.105170T>A (p.Leu35057Ter)
c.100568T>A (p.Leu33523Ter)
c.100565T>A (p.Leu33522Ter)
c.97607T>A (p.Leu32536Ter)
c.79223T>A (p.Leu26408Ter)
c.100718T>A (p.Leu33573Ter)
c.100715T>A (p.Leu33572Ter)
c.100148T>A (p.Leu33383Ter)
c.97490T>A (p.Leu32497Ter)
c.97409T>A (p.Leu32470Ter)
c.79172T>A (p.Leu26391Ter)
c.69026T>A (p.Leu23009Ter)
2g.178530339delCA2662125679TTN,TTN-AS1c.98573del (p.Leu32858CysfsTer?)
c.79658del (p.Leu26553CysfsTer?)
c.79457del (p.Leu26486CysfsTer?)
c.79082del (p.Leu26361CysfsTer?)
c.106277del (p.Leu35426CysfsTer?)
c.101354del (p.Leu33785CysfsTer?)
n.446+6703del
n.220-5393del
c.105374del (p.Leu35125CysfsTer?)
c.79268del (p.Leu26423CysfsTer?)
c.79127del (p.Leu26376CysfsTer?)
c.105170del (p.Leu35057CysfsTer?)
c.100568del (p.Leu33523CysfsTer?)
c.100565del (p.Leu33522CysfsTer?)
c.97607del (p.Leu32536CysfsTer?)
c.79223del (p.Leu26408CysfsTer?)
c.100718del (p.Leu33573CysfsTer?)
c.100715del (p.Leu33572CysfsTer?)
c.100148del (p.Leu33383CysfsTer?)
c.97490del (p.Leu32497CysfsTer?)
c.97409del (p.Leu32470CysfsTer?)
c.79172del (p.Leu26391CysfsTer?)
c.69026del (p.Leu23009CysfsTer?)
 gnomAD v4
2g.178530339A=CA1310514525TTN,TTN-AS1c.98572T= (p.Leu32858=)
c.79657T= (p.Leu26553=)
c.79456T= (p.Leu26486=)
c.79081T= (p.Leu26361=)
c.106276T= (p.Leu35426=)
c.101353T= (p.Leu33785=)
n.446+6703A=
n.220-5393A=
c.105373T= (p.Leu35125=)
c.79267T= (p.Leu26423=)
c.79126T= (p.Leu26376=)
c.105169T= (p.Leu35057=)
c.100567T= (p.Leu33523=)
c.100564T= (p.Leu33522=)
c.97606T= (p.Leu32536=)
c.79222T= (p.Leu26408=)
c.100717T= (p.Leu33573=)
c.100714T= (p.Leu33572=)
c.100147T= (p.Leu33383=)
c.97489T= (p.Leu32497=)
c.97408T= (p.Leu32470=)
c.79171T= (p.Leu26391=)
c.69025T= (p.Leu23009=)
2g.178530339A>CCA349406354TTN,TTN-AS1c.98572T>G (p.Leu32858Val)
c.79657T>G (p.Leu26553Val)
c.79456T>G (p.Leu26486Val)
c.79081T>G (p.Leu26361Val)
c.106276T>G (p.Leu35426Val)
c.101353T>G (p.Leu33785Val)
n.446+6703A>C
n.220-5393A>C
c.105373T>G (p.Leu35125Val)
c.79267T>G (p.Leu26423Val)
c.79126T>G (p.Leu26376Val)
c.105169T>G (p.Leu35057Val)
c.100567T>G (p.Leu33523Val)
c.100564T>G (p.Leu33522Val)
c.97606T>G (p.Leu32536Val)
c.79222T>G (p.Leu26408Val)
c.100717T>G (p.Leu33573Val)
c.100714T>G (p.Leu33572Val)
c.100147T>G (p.Leu33383Val)
c.97489T>G (p.Leu32497Val)
c.97408T>G (p.Leu32470Val)
c.79171T>G (p.Leu26391Val)
c.69025T>G (p.Leu23009Val)
 dbSNP
2g.178530339A>GCA430235169TTN,TTN-AS1c.98572T>C (p.Leu32858=)
c.79657T>C (p.Leu26553=)
c.79456T>C (p.Leu26486=)
c.79081T>C (p.Leu26361=)
c.106276T>C (p.Leu35426=)
c.101353T>C (p.Leu33785=)
n.446+6703A>G
n.220-5393A>G
c.105373T>C (p.Leu35125=)
c.79267T>C (p.Leu26423=)
c.79126T>C (p.Leu26376=)
c.105169T>C (p.Leu35057=)
c.100567T>C (p.Leu33523=)
c.100564T>C (p.Leu33522=)
c.97606T>C (p.Leu32536=)
c.79222T>C (p.Leu26408=)
c.100717T>C (p.Leu33573=)
c.100714T>C (p.Leu33572=)
c.100147T>C (p.Leu33383=)
c.97489T>C (p.Leu32497=)
c.97408T>C (p.Leu32470=)
c.79171T>C (p.Leu26391=)
c.69025T>C (p.Leu23009=)
2g.178530339A>TCA349406356TTN,TTN-AS1c.98572T>A (p.Leu32858Met)
c.79657T>A (p.Leu26553Met)
c.79456T>A (p.Leu26486Met)
c.79081T>A (p.Leu26361Met)
c.106276T>A (p.Leu35426Met)
c.101353T>A (p.Leu33785Met)
n.446+6703A>T
n.220-5393A>T
c.105373T>A (p.Leu35125Met)
c.79267T>A (p.Leu26423Met)
c.79126T>A (p.Leu26376Met)
c.105169T>A (p.Leu35057Met)
c.100567T>A (p.Leu33523Met)
c.100564T>A (p.Leu33522Met)
c.97606T>A (p.Leu32536Met)
c.79222T>A (p.Leu26408Met)
c.100717T>A (p.Leu33573Met)
c.100714T>A (p.Leu33572Met)
c.100147T>A (p.Leu33383Met)
c.97489T>A (p.Leu32497Met)
c.97408T>A (p.Leu32470Met)
c.79171T>A (p.Leu26391Met)
c.69025T>A (p.Leu23009Met)
2g.178530340C>ACA430235171TTN,TTN-AS1c.98571G>T (p.Gly32857=)
c.79656G>T (p.Gly26552=)
c.79455G>T (p.Gly26485=)
c.79080G>T (p.Gly26360=)
c.106275G>T (p.Gly35425=)
c.101352G>T (p.Gly33784=)
n.446+6704C>A
n.220-5392C>A
c.105372G>T (p.Gly35124=)
c.79266G>T (p.Gly26422=)
c.79125G>T (p.Gly26375=)
c.105168G>T (p.Gly35056=)
c.100566G>T (p.Gly33522=)
c.100563G>T (p.Gly33521=)
c.97605G>T (p.Gly32535=)
c.79221G>T (p.Gly26407=)
c.100716G>T (p.Gly33572=)
c.100713G>T (p.Gly33571=)
c.100146G>T (p.Gly33382=)
c.97488G>T (p.Gly32496=)
c.97407G>T (p.Gly32469=)
c.79170G>T (p.Gly26390=)
c.69024G>T (p.Gly23008=)
2g.178530340C=CA1310514529TTN,TTN-AS1c.98571G= (p.Gly32857=)
c.79656G= (p.Gly26552=)
c.79455G= (p.Gly26485=)
c.79080G= (p.Gly26360=)
c.106275G= (p.Gly35425=)
c.101352G= (p.Gly33784=)
n.446+6704C=
n.220-5392C=
c.105372G= (p.Gly35124=)
c.79266G= (p.Gly26422=)
c.79125G= (p.Gly26375=)
c.105168G= (p.Gly35056=)
c.100566G= (p.Gly33522=)
c.100563G= (p.Gly33521=)
c.97605G= (p.Gly32535=)
c.79221G= (p.Gly26407=)
c.100716G= (p.Gly33572=)
c.100713G= (p.Gly33571=)
c.100146G= (p.Gly33382=)
c.97488G= (p.Gly32496=)
c.97407G= (p.Gly32469=)
c.79170G= (p.Gly26390=)
c.69024G= (p.Gly23008=)
2g.178530340C>GCA284370TTN,TTN-AS1c.98571G>C (p.Gly32857=)
c.79656G>C (p.Gly26552=)
c.79455G>C (p.Gly26485=)
c.79080G>C (p.Gly26360=)
c.106275G>C (p.Gly35425=)
c.101352G>C (p.Gly33784=)
n.446+6704C>G
n.220-5392C>G
c.105372G>C (p.Gly35124=)
c.79266G>C (p.Gly26422=)
c.79125G>C (p.Gly26375=)
c.105168G>C (p.Gly35056=)
c.100566G>C (p.Gly33522=)
c.100563G>C (p.Gly33521=)
c.97605G>C (p.Gly32535=)
c.79221G>C (p.Gly26407=)
c.100716G>C (p.Gly33572=)
c.100713G>C (p.Gly33571=)
c.100146G>C (p.Gly33382=)
c.97488G>C (p.Gly32496=)
c.97407G>C (p.Gly32469=)
c.79170G>C (p.Gly26390=)
c.69024G>C (p.Gly23008=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530340C>TCA430235174TTN,TTN-AS1c.98571G>A (p.Gly32857=)
c.79656G>A (p.Gly26552=)
c.79455G>A (p.Gly26485=)
c.79080G>A (p.Gly26360=)
c.106275G>A (p.Gly35425=)
c.101352G>A (p.Gly33784=)
n.446+6704C>T
n.220-5392C>T
c.105372G>A (p.Gly35124=)
c.79266G>A (p.Gly26422=)
c.79125G>A (p.Gly26375=)
c.105168G>A (p.Gly35056=)
c.100566G>A (p.Gly33522=)
c.100563G>A (p.Gly33521=)
c.97605G>A (p.Gly32535=)
c.79221G>A (p.Gly26407=)
c.100716G>A (p.Gly33572=)
c.100713G>A (p.Gly33571=)
c.100146G>A (p.Gly33382=)
c.97488G>A (p.Gly32496=)
c.97407G>A (p.Gly32469=)
c.79170G>A (p.Gly26390=)
c.69024G>A (p.Gly23008=)
 gnomAD v4
2g.178530342delCA2662125685TTN,TTN-AS1c.98571del (p.Leu32858CysfsTer?)
c.79656del (p.Leu26553CysfsTer?)
c.79455del (p.Leu26486CysfsTer?)
c.79080del (p.Leu26361CysfsTer?)
c.106275del (p.Leu35426CysfsTer?)
c.101352del (p.Leu33785CysfsTer?)
n.446+6706del
n.220-5390del
c.105372del (p.Leu35125CysfsTer?)
c.79266del (p.Leu26423CysfsTer?)
c.79125del (p.Leu26376CysfsTer?)
c.105168del (p.Leu35057CysfsTer?)
c.100566del (p.Leu33523CysfsTer?)
c.100563del (p.Leu33522CysfsTer?)
c.97605del (p.Leu32536CysfsTer?)
c.79221del (p.Leu26408CysfsTer?)
c.100716del (p.Leu33573CysfsTer?)
c.100713del (p.Leu33572CysfsTer?)
c.100146del (p.Leu33383CysfsTer?)
c.97488del (p.Leu32497CysfsTer?)
c.97407del (p.Leu32470CysfsTer?)
c.79170del (p.Leu26391CysfsTer?)
c.69024del (p.Leu23009CysfsTer?)
 gnomAD v4
2g.178530341C>ACA349406358TTN,TTN-AS1c.98570G>T (p.Gly32857Val)
c.79655G>T (p.Gly26552Val)
c.79454G>T (p.Gly26485Val)
c.79079G>T (p.Gly26360Val)
c.106274G>T (p.Gly35425Val)
c.101351G>T (p.Gly33784Val)
n.446+6705C>A
n.220-5391C>A
c.105371G>T (p.Gly35124Val)
c.79265G>T (p.Gly26422Val)
c.79124G>T (p.Gly26375Val)
c.105167G>T (p.Gly35056Val)
c.100565G>T (p.Gly33522Val)
c.100562G>T (p.Gly33521Val)
c.97604G>T (p.Gly32535Val)
c.79220G>T (p.Gly26407Val)
c.100715G>T (p.Gly33572Val)
c.100712G>T (p.Gly33571Val)
c.100145G>T (p.Gly33382Val)
c.97487G>T (p.Gly32496Val)
c.97406G>T (p.Gly32469Val)
c.79169G>T (p.Gly26390Val)
c.69023G>T (p.Gly23008Val)
2g.178530341C=CA1310514532TTN,TTN-AS1c.98570G= (p.Gly32857=)
c.79655G= (p.Gly26552=)
c.79454G= (p.Gly26485=)
c.79079G= (p.Gly26360=)
c.106274G= (p.Gly35425=)
c.101351G= (p.Gly33784=)
n.446+6705C=
n.220-5391C=
c.105371G= (p.Gly35124=)
c.79265G= (p.Gly26422=)
c.79124G= (p.Gly26375=)
c.105167G= (p.Gly35056=)
c.100565G= (p.Gly33522=)
c.100562G= (p.Gly33521=)
c.97604G= (p.Gly32535=)
c.79220G= (p.Gly26407=)
c.100715G= (p.Gly33572=)
c.100712G= (p.Gly33571=)
c.100145G= (p.Gly33382=)
c.97487G= (p.Gly32496=)
c.97406G= (p.Gly32469=)
c.79169G= (p.Gly26390=)
c.69023G= (p.Gly23008=)
2g.178530341C>GCA349406360TTN,TTN-AS1c.98570G>C (p.Gly32857Ala)
c.79655G>C (p.Gly26552Ala)
c.79454G>C (p.Gly26485Ala)
c.79079G>C (p.Gly26360Ala)
c.106274G>C (p.Gly35425Ala)
c.101351G>C (p.Gly33784Ala)
n.446+6705C>G
n.220-5391C>G
c.105371G>C (p.Gly35124Ala)
c.79265G>C (p.Gly26422Ala)
c.79124G>C (p.Gly26375Ala)
c.105167G>C (p.Gly35056Ala)
c.100565G>C (p.Gly33522Ala)
c.100562G>C (p.Gly33521Ala)
c.97604G>C (p.Gly32535Ala)
c.79220G>C (p.Gly26407Ala)
c.100715G>C (p.Gly33572Ala)
c.100712G>C (p.Gly33571Ala)
c.100145G>C (p.Gly33382Ala)
c.97487G>C (p.Gly32496Ala)
c.97406G>C (p.Gly32469Ala)
c.79169G>C (p.Gly26390Ala)
c.69023G>C (p.Gly23008Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178530341C>TCA349406359TTN,TTN-AS1c.98570G>A (p.Gly32857Glu)
c.79655G>A (p.Gly26552Glu)
c.79454G>A (p.Gly26485Glu)
c.79079G>A (p.Gly26360Glu)
c.106274G>A (p.Gly35425Glu)
c.101351G>A (p.Gly33784Glu)
n.446+6705C>T
n.220-5391C>T
c.105371G>A (p.Gly35124Glu)
c.79265G>A (p.Gly26422Glu)
c.79124G>A (p.Gly26375Glu)
c.105167G>A (p.Gly35056Glu)
c.100565G>A (p.Gly33522Glu)
c.100562G>A (p.Gly33521Glu)
c.97604G>A (p.Gly32535Glu)
c.79220G>A (p.Gly26407Glu)
c.100715G>A (p.Gly33572Glu)
c.100712G>A (p.Gly33571Glu)
c.100145G>A (p.Gly33382Glu)
c.97487G>A (p.Gly32496Glu)
c.97406G>A (p.Gly32469Glu)
c.79169G>A (p.Gly26390Glu)
c.69023G>A (p.Gly23008Glu)
 ClinVar dbSNP
2g.178530342C>ACA349406362TTN,TTN-AS1c.98569G>T (p.Gly32857Trp)
c.79654G>T (p.Gly26552Trp)
c.79453G>T (p.Gly26485Trp)
c.79078G>T (p.Gly26360Trp)
c.106273G>T (p.Gly35425Trp)
c.101350G>T (p.Gly33784Trp)
n.446+6706C>A
n.220-5390C>A
c.105370G>T (p.Gly35124Trp)
c.79264G>T (p.Gly26422Trp)
c.79123G>T (p.Gly26375Trp)
c.105166G>T (p.Gly35056Trp)
c.100564G>T (p.Gly33522Trp)
c.100561G>T (p.Gly33521Trp)
c.97603G>T (p.Gly32535Trp)
c.79219G>T (p.Gly26407Trp)
c.100714G>T (p.Gly33572Trp)
c.100711G>T (p.Gly33571Trp)
c.100144G>T (p.Gly33382Trp)
c.97486G>T (p.Gly32496Trp)
c.97405G>T (p.Gly32469Trp)
c.79168G>T (p.Gly26390Trp)
c.69022G>T (p.Gly23008Trp)
2g.178530342C=CA1310514534TTN,TTN-AS1c.98569G= (p.Gly32857=)
c.79654G= (p.Gly26552=)
c.79453G= (p.Gly26485=)
c.79078G= (p.Gly26360=)
c.106273G= (p.Gly35425=)
c.101350G= (p.Gly33784=)
n.446+6706C=
n.220-5390C=
c.105370G= (p.Gly35124=)
c.79264G= (p.Gly26422=)
c.79123G= (p.Gly26375=)
c.105166G= (p.Gly35056=)
c.100564G= (p.Gly33522=)
c.100561G= (p.Gly33521=)
c.97603G= (p.Gly32535=)
c.79219G= (p.Gly26407=)
c.100714G= (p.Gly33572=)
c.100711G= (p.Gly33571=)
c.100144G= (p.Gly33382=)
c.97486G= (p.Gly32496=)
c.97405G= (p.Gly32469=)
c.79168G= (p.Gly26390=)
c.69022G= (p.Gly23008=)
2g.178530342C>GCA1985138TTN,TTN-AS1c.98569G>C (p.Gly32857Arg)
c.79654G>C (p.Gly26552Arg)
c.79453G>C (p.Gly26485Arg)
c.79078G>C (p.Gly26360Arg)
c.106273G>C (p.Gly35425Arg)
c.101350G>C (p.Gly33784Arg)
n.446+6706C>G
n.220-5390C>G
c.105370G>C (p.Gly35124Arg)
c.79264G>C (p.Gly26422Arg)
c.79123G>C (p.Gly26375Arg)
c.105166G>C (p.Gly35056Arg)
c.100564G>C (p.Gly33522Arg)
c.100561G>C (p.Gly33521Arg)
c.97603G>C (p.Gly32535Arg)
c.79219G>C (p.Gly26407Arg)
c.100714G>C (p.Gly33572Arg)
c.100711G>C (p.Gly33571Arg)
c.100144G>C (p.Gly33382Arg)
c.97486G>C (p.Gly32496Arg)
c.97405G>C (p.Gly32469Arg)
c.79168G>C (p.Gly26390Arg)
c.69022G>C (p.Gly23008Arg)
 dbSNP ExAC gnomAD v2
2g.178530342C>TCA349406365TTN,TTN-AS1c.98569G>A (p.Gly32857Arg)
c.79654G>A (p.Gly26552Arg)
c.79453G>A (p.Gly26485Arg)
c.79078G>A (p.Gly26360Arg)
c.106273G>A (p.Gly35425Arg)
c.101350G>A (p.Gly33784Arg)
n.446+6706C>T
n.220-5390C>T
c.105370G>A (p.Gly35124Arg)
c.79264G>A (p.Gly26422Arg)
c.79123G>A (p.Gly26375Arg)
c.105166G>A (p.Gly35056Arg)
c.100564G>A (p.Gly33522Arg)
c.100561G>A (p.Gly33521Arg)
c.97603G>A (p.Gly32535Arg)
c.79219G>A (p.Gly26407Arg)
c.100714G>A (p.Gly33572Arg)
c.100711G>A (p.Gly33571Arg)
c.100144G>A (p.Gly33382Arg)
c.97486G>A (p.Gly32496Arg)
c.97405G>A (p.Gly32469Arg)
c.79168G>A (p.Gly26390Arg)
c.69022G>A (p.Gly23008Arg)
 ClinVar
2g.178530343A=CA1310514536TTN,TTN-AS1c.98568T= (p.Thr32856=)
c.79653T= (p.Thr26551=)
c.79452T= (p.Thr26484=)
c.79077T= (p.Thr26359=)
c.106272T= (p.Thr35424=)
c.101349T= (p.Thr33783=)
n.446+6707A=
n.220-5389A=
c.105369T= (p.Thr35123=)
c.79263T= (p.Thr26421=)
c.79122T= (p.Thr26374=)
c.105165T= (p.Thr35055=)
c.100563T= (p.Thr33521=)
c.100560T= (p.Thr33520=)
c.97602T= (p.Thr32534=)
c.79218T= (p.Thr26406=)
c.100713T= (p.Thr33571=)
c.100710T= (p.Thr33570=)
c.100143T= (p.Thr33381=)
c.97485T= (p.Thr32495=)
c.97404T= (p.Thr32468=)
c.79167T= (p.Thr26389=)
c.69021T= (p.Thr23007=)
2g.178530343A>CCA1985139TTN,TTN-AS1c.98568T>G (p.Thr32856=)
c.79653T>G (p.Thr26551=)
c.79452T>G (p.Thr26484=)
c.79077T>G (p.Thr26359=)
c.106272T>G (p.Thr35424=)
c.101349T>G (p.Thr33783=)
n.446+6707A>C
n.220-5389A>C
c.105369T>G (p.Thr35123=)
c.79263T>G (p.Thr26421=)
c.79122T>G (p.Thr26374=)
c.105165T>G (p.Thr35055=)
c.100563T>G (p.Thr33521=)
c.100560T>G (p.Thr33520=)
c.97602T>G (p.Thr32534=)
c.79218T>G (p.Thr26406=)
c.100713T>G (p.Thr33571=)
c.100710T>G (p.Thr33570=)
c.100143T>G (p.Thr33381=)
c.97485T>G (p.Thr32495=)
c.97404T>G (p.Thr32468=)
c.79167T>G (p.Thr26389=)
c.69021T>G (p.Thr23007=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530343A>GCA430235179TTN,TTN-AS1c.98568T>C (p.Thr32856=)
c.79653T>C (p.Thr26551=)
c.79452T>C (p.Thr26484=)
c.79077T>C (p.Thr26359=)
c.106272T>C (p.Thr35424=)
c.101349T>C (p.Thr33783=)
n.446+6707A>G
n.220-5389A>G
c.105369T>C (p.Thr35123=)
c.79263T>C (p.Thr26421=)
c.79122T>C (p.Thr26374=)
c.105165T>C (p.Thr35055=)
c.100563T>C (p.Thr33521=)
c.100560T>C (p.Thr33520=)
c.97602T>C (p.Thr32534=)
c.79218T>C (p.Thr26406=)
c.100713T>C (p.Thr33571=)
c.100710T>C (p.Thr33570=)
c.100143T>C (p.Thr33381=)
c.97485T>C (p.Thr32495=)
c.97404T>C (p.Thr32468=)
c.79167T>C (p.Thr26389=)
c.69021T>C (p.Thr23007=)
 gnomAD v4
2g.178530343A>TCA430235181TTN,TTN-AS1c.98568T>A (p.Thr32856=)
c.79653T>A (p.Thr26551=)
c.79452T>A (p.Thr26484=)
c.79077T>A (p.Thr26359=)
c.106272T>A (p.Thr35424=)
c.101349T>A (p.Thr33783=)
n.446+6707A>T
n.220-5389A>T
c.105369T>A (p.Thr35123=)
c.79263T>A (p.Thr26421=)
c.79122T>A (p.Thr26374=)
c.105165T>A (p.Thr35055=)
c.100563T>A (p.Thr33521=)
c.100560T>A (p.Thr33520=)
c.97602T>A (p.Thr32534=)
c.79218T>A (p.Thr26406=)
c.100713T>A (p.Thr33571=)
c.100710T>A (p.Thr33570=)
c.100143T>A (p.Thr33381=)
c.97485T>A (p.Thr32495=)
c.97404T>A (p.Thr32468=)
c.79167T>A (p.Thr26389=)
c.69021T>A (p.Thr23007=)
 ClinVar
2g.178530344G>ACA349406367TTN,TTN-AS1c.98567C>T (p.Thr32856Ile)
c.79652C>T (p.Thr26551Ile)
c.79451C>T (p.Thr26484Ile)
c.79076C>T (p.Thr26359Ile)
c.106271C>T (p.Thr35424Ile)
c.101348C>T (p.Thr33783Ile)
n.446+6708G>A
n.220-5388G>A
c.105368C>T (p.Thr35123Ile)
c.79262C>T (p.Thr26421Ile)
c.79121C>T (p.Thr26374Ile)
c.105164C>T (p.Thr35055Ile)
c.100562C>T (p.Thr33521Ile)
c.100559C>T (p.Thr33520Ile)
c.97601C>T (p.Thr32534Ile)
c.79217C>T (p.Thr26406Ile)
c.100712C>T (p.Thr33571Ile)
c.100709C>T (p.Thr33570Ile)
c.100142C>T (p.Thr33381Ile)
c.97484C>T (p.Thr32495Ile)
c.97403C>T (p.Thr32468Ile)
c.79166C>T (p.Thr26389Ile)
c.69020C>T (p.Thr23007Ile)
2g.178530344G>CCA349406369TTN,TTN-AS1c.98567C>G (p.Thr32856Ser)
c.79652C>G (p.Thr26551Ser)
c.79451C>G (p.Thr26484Ser)
c.79076C>G (p.Thr26359Ser)
c.106271C>G (p.Thr35424Ser)
c.101348C>G (p.Thr33783Ser)
n.446+6708G>C
n.220-5388G>C
c.105368C>G (p.Thr35123Ser)
c.79262C>G (p.Thr26421Ser)
c.79121C>G (p.Thr26374Ser)
c.105164C>G (p.Thr35055Ser)
c.100562C>G (p.Thr33521Ser)
c.100559C>G (p.Thr33520Ser)
c.97601C>G (p.Thr32534Ser)
c.79217C>G (p.Thr26406Ser)
c.100712C>G (p.Thr33571Ser)
c.100709C>G (p.Thr33570Ser)
c.100142C>G (p.Thr33381Ser)
c.97484C>G (p.Thr32495Ser)
c.97403C>G (p.Thr32468Ser)
c.79166C>G (p.Thr26389Ser)
c.69020C>G (p.Thr23007Ser)
2g.178530344G>TCA349406370TTN,TTN-AS1c.98567C>A (p.Thr32856Asn)
c.79652C>A (p.Thr26551Asn)
c.79451C>A (p.Thr26484Asn)
c.79076C>A (p.Thr26359Asn)
c.106271C>A (p.Thr35424Asn)
c.101348C>A (p.Thr33783Asn)
n.446+6708G>T
n.220-5388G>T
c.105368C>A (p.Thr35123Asn)
c.79262C>A (p.Thr26421Asn)
c.79121C>A (p.Thr26374Asn)
c.105164C>A (p.Thr35055Asn)
c.100562C>A (p.Thr33521Asn)
c.100559C>A (p.Thr33520Asn)
c.97601C>A (p.Thr32534Asn)
c.79217C>A (p.Thr26406Asn)
c.100712C>A (p.Thr33571Asn)
c.100709C>A (p.Thr33570Asn)
c.100142C>A (p.Thr33381Asn)
c.97484C>A (p.Thr32495Asn)
c.97403C>A (p.Thr32468Asn)
c.79166C>A (p.Thr26389Asn)
c.69020C>A (p.Thr23007Asn)
2g.178530346_178530358delCA2577170311TTN,TTN-AS1c.98555_98567del (p.Pro32852LeufsTer?)
c.79640_79652del (p.Pro26547LeufsTer?)
c.79439_79451del (p.Pro26480LeufsTer?)
c.79064_79076del (p.Pro26355LeufsTer?)
c.106259_106271del (p.Pro35420LeufsTer?)
c.101336_101348del (p.Pro33779LeufsTer?)
n.446+6710_446+6722del
n.220-5386_220-5374del
c.105356_105368del (p.Pro35119LeufsTer?)
c.79250_79262del (p.Pro26417LeufsTer?)
c.79109_79121del (p.Pro26370LeufsTer?)
c.105152_105164del (p.Pro35051LeufsTer?)
c.100550_100562del (p.Pro33517LeufsTer?)
c.100547_100559del (p.Pro33516LeufsTer?)
c.97589_97601del (p.Pro32530LeufsTer?)
c.79205_79217del (p.Pro26402LeufsTer?)
c.100700_100712del (p.Pro33567LeufsTer?)
c.100697_100709del (p.Pro33566LeufsTer?)
c.100130_100142del (p.Pro33377LeufsTer?)
c.97472_97484del (p.Pro32491LeufsTer?)
c.97391_97403del (p.Pro32464LeufsTer?)
c.79154_79166del (p.Pro26385LeufsTer?)
c.69008_69020del (p.Pro23003LeufsTer?)
 ClinVar gnomAD v4
2g.178530345T>ACA349406371TTN,TTN-AS1c.98566A>T (p.Thr32856Ser)
c.79651A>T (p.Thr26551Ser)
c.79450A>T (p.Thr26484Ser)
c.79075A>T (p.Thr26359Ser)
c.106270A>T (p.Thr35424Ser)
c.101347A>T (p.Thr33783Ser)
n.446+6709T>A
n.220-5387T>A
c.105367A>T (p.Thr35123Ser)
c.79261A>T (p.Thr26421Ser)
c.79120A>T (p.Thr26374Ser)
c.105163A>T (p.Thr35055Ser)
c.100561A>T (p.Thr33521Ser)
c.100558A>T (p.Thr33520Ser)
c.97600A>T (p.Thr32534Ser)
c.79216A>T (p.Thr26406Ser)
c.100711A>T (p.Thr33571Ser)
c.100708A>T (p.Thr33570Ser)
c.100141A>T (p.Thr33381Ser)
c.97483A>T (p.Thr32495Ser)
c.97402A>T (p.Thr32468Ser)
c.79165A>T (p.Thr26389Ser)
c.69019A>T (p.Thr23007Ser)
2g.178530345T>CCA349406372TTN,TTN-AS1c.98566A>G (p.Thr32856Ala)
c.79651A>G (p.Thr26551Ala)
c.79450A>G (p.Thr26484Ala)
c.79075A>G (p.Thr26359Ala)
c.106270A>G (p.Thr35424Ala)
c.101347A>G (p.Thr33783Ala)
n.446+6709T>C
n.220-5387T>C
c.105367A>G (p.Thr35123Ala)
c.79261A>G (p.Thr26421Ala)
c.79120A>G (p.Thr26374Ala)
c.105163A>G (p.Thr35055Ala)
c.100561A>G (p.Thr33521Ala)
c.100558A>G (p.Thr33520Ala)
c.97600A>G (p.Thr32534Ala)
c.79216A>G (p.Thr26406Ala)
c.100711A>G (p.Thr33571Ala)
c.100708A>G (p.Thr33570Ala)
c.100141A>G (p.Thr33381Ala)
c.97483A>G (p.Thr32495Ala)
c.97402A>G (p.Thr32468Ala)
c.79165A>G (p.Thr26389Ala)
c.69019A>G (p.Thr23007Ala)
 gnomAD v4
2g.178530345T>GCA349406373TTN,TTN-AS1c.98566A>C (p.Thr32856Pro)
c.79651A>C (p.Thr26551Pro)
c.79450A>C (p.Thr26484Pro)
c.79075A>C (p.Thr26359Pro)
c.106270A>C (p.Thr35424Pro)
c.101347A>C (p.Thr33783Pro)
n.446+6709T>G
n.220-5387T>G
c.105367A>C (p.Thr35123Pro)
c.79261A>C (p.Thr26421Pro)
c.79120A>C (p.Thr26374Pro)
c.105163A>C (p.Thr35055Pro)
c.100561A>C (p.Thr33521Pro)
c.100558A>C (p.Thr33520Pro)
c.97600A>C (p.Thr32534Pro)
c.79216A>C (p.Thr26406Pro)
c.100711A>C (p.Thr33571Pro)
c.100708A>C (p.Thr33570Pro)
c.100141A>C (p.Thr33381Pro)
c.97483A>C (p.Thr32495Pro)
c.97402A>C (p.Thr32468Pro)
c.79165A>C (p.Thr26389Pro)
c.69019A>C (p.Thr23007Pro)
2g.178530346A>CCA430235184TTN,TTN-AS1c.98565T>G (p.Val32855=)
c.79650T>G (p.Val26550=)
c.79449T>G (p.Val26483=)
c.79074T>G (p.Val26358=)
c.106269T>G (p.Val35423=)
c.101346T>G (p.Val33782=)
n.446+6710A>C
n.220-5386A>C
c.105366T>G (p.Val35122=)
c.79260T>G (p.Val26420=)
c.79119T>G (p.Val26373=)
c.105162T>G (p.Val35054=)
c.100560T>G (p.Val33520=)
c.100557T>G (p.Val33519=)
c.97599T>G (p.Val32533=)
c.79215T>G (p.Val26405=)
c.100710T>G (p.Val33570=)
c.100707T>G (p.Val33569=)
c.100140T>G (p.Val33380=)
c.97482T>G (p.Val32494=)
c.97401T>G (p.Val32467=)
c.79164T>G (p.Val26388=)
c.69018T>G (p.Val23006=)
2g.178530346A>GCA430235187TTN,TTN-AS1c.98565T>C (p.Val32855=)
c.79650T>C (p.Val26550=)
c.79449T>C (p.Val26483=)
c.79074T>C (p.Val26358=)
c.106269T>C (p.Val35423=)
c.101346T>C (p.Val33782=)
n.446+6710A>G
n.220-5386A>G
c.105366T>C (p.Val35122=)
c.79260T>C (p.Val26420=)
c.79119T>C (p.Val26373=)
c.105162T>C (p.Val35054=)
c.100560T>C (p.Val33520=)
c.100557T>C (p.Val33519=)
c.97599T>C (p.Val32533=)
c.79215T>C (p.Val26405=)
c.100710T>C (p.Val33570=)
c.100707T>C (p.Val33569=)
c.100140T>C (p.Val33380=)
c.97482T>C (p.Val32494=)
c.97401T>C (p.Val32467=)
c.79164T>C (p.Val26388=)
c.69018T>C (p.Val23006=)
2g.178530346A>TCA430235185TTN,TTN-AS1c.98565T>A (p.Val32855=)
c.79650T>A (p.Val26550=)
c.79449T>A (p.Val26483=)
c.79074T>A (p.Val26358=)
c.106269T>A (p.Val35423=)
c.101346T>A (p.Val33782=)
n.446+6710A>T
n.220-5386A>T
c.105366T>A (p.Val35122=)
c.79260T>A (p.Val26420=)
c.79119T>A (p.Val26373=)
c.105162T>A (p.Val35054=)
c.100560T>A (p.Val33520=)
c.100557T>A (p.Val33519=)
c.97599T>A (p.Val32533=)
c.79215T>A (p.Val26405=)
c.100710T>A (p.Val33570=)
c.100707T>A (p.Val33569=)
c.100140T>A (p.Val33380=)
c.97482T>A (p.Val32494=)
c.97401T>A (p.Val32467=)
c.79164T>A (p.Val26388=)
c.69018T>A (p.Val23006=)
2g.178530347A>CCA349406376TTN,TTN-AS1c.98564T>G (p.Val32855Gly)
c.79649T>G (p.Val26550Gly)
c.79448T>G (p.Val26483Gly)
c.79073T>G (p.Val26358Gly)
c.106268T>G (p.Val35423Gly)
c.101345T>G (p.Val33782Gly)
n.446+6711A>C
n.220-5385A>C
c.105365T>G (p.Val35122Gly)
c.79259T>G (p.Val26420Gly)
c.79118T>G (p.Val26373Gly)
c.105161T>G (p.Val35054Gly)
c.100559T>G (p.Val33520Gly)
c.100556T>G (p.Val33519Gly)
c.97598T>G (p.Val32533Gly)
c.79214T>G (p.Val26405Gly)
c.100709T>G (p.Val33570Gly)
c.100706T>G (p.Val33569Gly)
c.100139T>G (p.Val33380Gly)
c.97481T>G (p.Val32494Gly)
c.97400T>G (p.Val32467Gly)
c.79163T>G (p.Val26388Gly)
c.69017T>G (p.Val23006Gly)
2g.178530347A>GCA349406375TTN,TTN-AS1c.98564T>C (p.Val32855Ala)
c.79649T>C (p.Val26550Ala)
c.79448T>C (p.Val26483Ala)
c.79073T>C (p.Val26358Ala)
c.106268T>C (p.Val35423Ala)
c.101345T>C (p.Val33782Ala)
n.446+6711A>G
n.220-5385A>G
c.105365T>C (p.Val35122Ala)
c.79259T>C (p.Val26420Ala)
c.79118T>C (p.Val26373Ala)
c.105161T>C (p.Val35054Ala)
c.100559T>C (p.Val33520Ala)
c.100556T>C (p.Val33519Ala)
c.97598T>C (p.Val32533Ala)
c.79214T>C (p.Val26405Ala)
c.100709T>C (p.Val33570Ala)
c.100706T>C (p.Val33569Ala)
c.100139T>C (p.Val33380Ala)
c.97481T>C (p.Val32494Ala)
c.97400T>C (p.Val32467Ala)
c.79163T>C (p.Val26388Ala)
c.69017T>C (p.Val23006Ala)
2g.178530347A>TCA349406374TTN,TTN-AS1c.98564T>A (p.Val32855Asp)
c.79649T>A (p.Val26550Asp)
c.79448T>A (p.Val26483Asp)
c.79073T>A (p.Val26358Asp)
c.106268T>A (p.Val35423Asp)
c.101345T>A (p.Val33782Asp)
n.446+6711A>T
n.220-5385A>T
c.105365T>A (p.Val35122Asp)
c.79259T>A (p.Val26420Asp)
c.79118T>A (p.Val26373Asp)
c.105161T>A (p.Val35054Asp)
c.100559T>A (p.Val33520Asp)
c.100556T>A (p.Val33519Asp)
c.97598T>A (p.Val32533Asp)
c.79214T>A (p.Val26405Asp)
c.100709T>A (p.Val33570Asp)
c.100706T>A (p.Val33569Asp)
c.100139T>A (p.Val33380Asp)
c.97481T>A (p.Val32494Asp)
c.97400T>A (p.Val32467Asp)
c.79163T>A (p.Val26388Asp)
c.69017T>A (p.Val23006Asp)
2g.178530348C>ACA311255TTN,TTN-AS1c.98563G>T (p.Val32855Phe)
c.79648G>T (p.Val26550Phe)
c.79447G>T (p.Val26483Phe)
c.79072G>T (p.Val26358Phe)
c.106267G>T (p.Val35423Phe)
c.101344G>T (p.Val33782Phe)
n.446+6712C>A
n.220-5384C>A
c.105364G>T (p.Val35122Phe)
c.79258G>T (p.Val26420Phe)
c.79117G>T (p.Val26373Phe)
c.105160G>T (p.Val35054Phe)
c.100558G>T (p.Val33520Phe)
c.100555G>T (p.Val33519Phe)
c.97597G>T (p.Val32533Phe)
c.79213G>T (p.Val26405Phe)
c.100708G>T (p.Val33570Phe)
c.100705G>T (p.Val33569Phe)
c.100138G>T (p.Val33380Phe)
c.97480G>T (p.Val32494Phe)
c.97399G>T (p.Val32467Phe)
c.79162G>T (p.Val26388Phe)
c.69016G>T (p.Val23006Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530348C=CA1310514538TTN,TTN-AS1c.98563G= (p.Val32855=)
c.79648G= (p.Val26550=)
c.79447G= (p.Val26483=)
c.79072G= (p.Val26358=)
c.106267G= (p.Val35423=)
c.101344G= (p.Val33782=)
n.446+6712C=
n.220-5384C=
c.105364G= (p.Val35122=)
c.79258G= (p.Val26420=)
c.79117G= (p.Val26373=)
c.105160G= (p.Val35054=)
c.100558G= (p.Val33520=)
c.100555G= (p.Val33519=)
c.97597G= (p.Val32533=)
c.79213G= (p.Val26405=)
c.100708G= (p.Val33570=)
c.100705G= (p.Val33569=)
c.100138G= (p.Val33380=)
c.97480G= (p.Val32494=)
c.97399G= (p.Val32467=)
c.79162G= (p.Val26388=)
c.69016G= (p.Val23006=)
2g.178530348C>GCA349406377TTN,TTN-AS1c.98563G>C (p.Val32855Leu)
c.79648G>C (p.Val26550Leu)
c.79447G>C (p.Val26483Leu)
c.79072G>C (p.Val26358Leu)
c.106267G>C (p.Val35423Leu)
c.101344G>C (p.Val33782Leu)
n.446+6712C>G
n.220-5384C>G
c.105364G>C (p.Val35122Leu)
c.79258G>C (p.Val26420Leu)
c.79117G>C (p.Val26373Leu)
c.105160G>C (p.Val35054Leu)
c.100558G>C (p.Val33520Leu)
c.100555G>C (p.Val33519Leu)
c.97597G>C (p.Val32533Leu)
c.79213G>C (p.Val26405Leu)
c.100708G>C (p.Val33570Leu)
c.100705G>C (p.Val33569Leu)
c.100138G>C (p.Val33380Leu)
c.97480G>C (p.Val32494Leu)
c.97399G>C (p.Val32467Leu)
c.79162G>C (p.Val26388Leu)
c.69016G>C (p.Val23006Leu)
2g.178530348C>TCA349406378TTN,TTN-AS1c.98563G>A (p.Val32855Ile)
c.79648G>A (p.Val26550Ile)
c.79447G>A (p.Val26483Ile)
c.79072G>A (p.Val26358Ile)
c.106267G>A (p.Val35423Ile)
c.101344G>A (p.Val33782Ile)
n.446+6712C>T
n.220-5384C>T
c.105364G>A (p.Val35122Ile)
c.79258G>A (p.Val26420Ile)
c.79117G>A (p.Val26373Ile)
c.105160G>A (p.Val35054Ile)
c.100558G>A (p.Val33520Ile)
c.100555G>A (p.Val33519Ile)
c.97597G>A (p.Val32533Ile)
c.79213G>A (p.Val26405Ile)
c.100708G>A (p.Val33570Ile)
c.100705G>A (p.Val33569Ile)
c.100138G>A (p.Val33380Ile)
c.97480G>A (p.Val32494Ile)
c.97399G>A (p.Val32467Ile)
c.79162G>A (p.Val26388Ile)
c.69016G>A (p.Val23006Ile)
2g.178530349A=CA1310514539TTN,TTN-AS1c.98562T= (p.Ile32854=)
c.79647T= (p.Ile26549=)
c.79446T= (p.Ile26482=)
c.79071T= (p.Ile26357=)
c.106266T= (p.Ile35422=)
c.101343T= (p.Ile33781=)
n.446+6713A=
n.220-5383A=
c.105363T= (p.Ile35121=)
c.79257T= (p.Ile26419=)
c.79116T= (p.Ile26372=)
c.105159T= (p.Ile35053=)
c.100557T= (p.Ile33519=)
c.100554T= (p.Ile33518=)
c.97596T= (p.Ile32532=)
c.79212T= (p.Ile26404=)
c.100707T= (p.Ile33569=)
c.100704T= (p.Ile33568=)
c.100137T= (p.Ile33379=)
c.97479T= (p.Ile32493=)
c.97398T= (p.Ile32466=)
c.79161T= (p.Ile26387=)
c.69015T= (p.Ile23005=)
2g.178530349A>CCA349406379TTN,TTN-AS1c.98562T>G (p.Ile32854Met)
c.79647T>G (p.Ile26549Met)
c.79446T>G (p.Ile26482Met)
c.79071T>G (p.Ile26357Met)
c.106266T>G (p.Ile35422Met)
c.101343T>G (p.Ile33781Met)
n.446+6713A>C
n.220-5383A>C
c.105363T>G (p.Ile35121Met)
c.79257T>G (p.Ile26419Met)
c.79116T>G (p.Ile26372Met)
c.105159T>G (p.Ile35053Met)
c.100557T>G (p.Ile33519Met)
c.100554T>G (p.Ile33518Met)
c.97596T>G (p.Ile32532Met)
c.79212T>G (p.Ile26404Met)
c.100707T>G (p.Ile33569Met)
c.100704T>G (p.Ile33568Met)
c.100137T>G (p.Ile33379Met)
c.97479T>G (p.Ile32493Met)
c.97398T>G (p.Ile32466Met)
c.79161T>G (p.Ile26387Met)
c.69015T>G (p.Ile23005Met)
2g.178530349A>GCA430235190TTN,TTN-AS1c.98562T>C (p.Ile32854=)
c.79647T>C (p.Ile26549=)
c.79446T>C (p.Ile26482=)
c.79071T>C (p.Ile26357=)
c.106266T>C (p.Ile35422=)
c.101343T>C (p.Ile33781=)
n.446+6713A>G
n.220-5383A>G
c.105363T>C (p.Ile35121=)
c.79257T>C (p.Ile26419=)
c.79116T>C (p.Ile26372=)
c.105159T>C (p.Ile35053=)
c.100557T>C (p.Ile33519=)
c.100554T>C (p.Ile33518=)
c.97596T>C (p.Ile32532=)
c.79212T>C (p.Ile26404=)
c.100707T>C (p.Ile33569=)
c.100704T>C (p.Ile33568=)
c.100137T>C (p.Ile33379=)
c.97479T>C (p.Ile32493=)
c.97398T>C (p.Ile32466=)
c.79161T>C (p.Ile26387=)
c.69015T>C (p.Ile23005=)
 gnomAD v4
2g.178530349A>TCA430235191TTN,TTN-AS1c.98562T>A (p.Ile32854=)
c.79647T>A (p.Ile26549=)
c.79446T>A (p.Ile26482=)
c.79071T>A (p.Ile26357=)
c.106266T>A (p.Ile35422=)
c.101343T>A (p.Ile33781=)
n.446+6713A>T
n.220-5383A>T
c.105363T>A (p.Ile35121=)
c.79257T>A (p.Ile26419=)
c.79116T>A (p.Ile26372=)
c.105159T>A (p.Ile35053=)
c.100557T>A (p.Ile33519=)
c.100554T>A (p.Ile33518=)
c.97596T>A (p.Ile32532=)
c.79212T>A (p.Ile26404=)
c.100707T>A (p.Ile33569=)
c.100704T>A (p.Ile33568=)
c.100137T>A (p.Ile33379=)
c.97479T>A (p.Ile32493=)
c.97398T>A (p.Ile32466=)
c.79161T>A (p.Ile26387=)
c.69015T>A (p.Ile23005=)
 dbSNP gnomAD v2 gnomAD v4
2g.178530350A=CA1310514542TTN,TTN-AS1c.98561T= (p.Ile32854=)
c.79646T= (p.Ile26549=)
c.79445T= (p.Ile26482=)
c.79070T= (p.Ile26357=)
c.106265T= (p.Ile35422=)
c.101342T= (p.Ile33781=)
n.446+6714A=
n.220-5382A=
c.105362T= (p.Ile35121=)
c.79256T= (p.Ile26419=)
c.79115T= (p.Ile26372=)
c.105158T= (p.Ile35053=)
c.100556T= (p.Ile33519=)
c.100553T= (p.Ile33518=)
c.97595T= (p.Ile32532=)
c.79211T= (p.Ile26404=)
c.100706T= (p.Ile33569=)
c.100703T= (p.Ile33568=)
c.100136T= (p.Ile33379=)
c.97478T= (p.Ile32493=)
c.97397T= (p.Ile32466=)
c.79160T= (p.Ile26387=)
c.69014T= (p.Ile23005=)
2g.178530350A>CCA349406380TTN,TTN-AS1c.98561T>G (p.Ile32854Ser)
c.79646T>G (p.Ile26549Ser)
c.79445T>G (p.Ile26482Ser)
c.79070T>G (p.Ile26357Ser)
c.106265T>G (p.Ile35422Ser)
c.101342T>G (p.Ile33781Ser)
n.446+6714A>C
n.220-5382A>C
c.105362T>G (p.Ile35121Ser)
c.79256T>G (p.Ile26419Ser)
c.79115T>G (p.Ile26372Ser)
c.105158T>G (p.Ile35053Ser)
c.100556T>G (p.Ile33519Ser)
c.100553T>G (p.Ile33518Ser)
c.97595T>G (p.Ile32532Ser)
c.79211T>G (p.Ile26404Ser)
c.100706T>G (p.Ile33569Ser)
c.100703T>G (p.Ile33568Ser)
c.100136T>G (p.Ile33379Ser)
c.97478T>G (p.Ile32493Ser)
c.97397T>G (p.Ile32466Ser)
c.79160T>G (p.Ile26387Ser)
c.69014T>G (p.Ile23005Ser)
2g.178530350A>GCA349406381TTN,TTN-AS1c.98561T>C (p.Ile32854Thr)
c.79646T>C (p.Ile26549Thr)
c.79445T>C (p.Ile26482Thr)
c.79070T>C (p.Ile26357Thr)
c.106265T>C (p.Ile35422Thr)
c.101342T>C (p.Ile33781Thr)
n.446+6714A>G
n.220-5382A>G
c.105362T>C (p.Ile35121Thr)
c.79256T>C (p.Ile26419Thr)
c.79115T>C (p.Ile26372Thr)
c.105158T>C (p.Ile35053Thr)
c.100556T>C (p.Ile33519Thr)
c.100553T>C (p.Ile33518Thr)
c.97595T>C (p.Ile32532Thr)
c.79211T>C (p.Ile26404Thr)
c.100706T>C (p.Ile33569Thr)
c.100703T>C (p.Ile33568Thr)
c.100136T>C (p.Ile33379Thr)
c.97478T>C (p.Ile32493Thr)
c.97397T>C (p.Ile32466Thr)
c.79160T>C (p.Ile26387Thr)
c.69014T>C (p.Ile23005Thr)
 ClinVar dbSNP
2g.178530350A>TCA349406382TTN,TTN-AS1c.98561T>A (p.Ile32854Asn)
c.79646T>A (p.Ile26549Asn)
c.79445T>A (p.Ile26482Asn)
c.79070T>A (p.Ile26357Asn)
c.106265T>A (p.Ile35422Asn)
c.101342T>A (p.Ile33781Asn)
n.446+6714A>T
n.220-5382A>T
c.105362T>A (p.Ile35121Asn)
c.79256T>A (p.Ile26419Asn)
c.79115T>A (p.Ile26372Asn)
c.105158T>A (p.Ile35053Asn)
c.100556T>A (p.Ile33519Asn)
c.100553T>A (p.Ile33518Asn)
c.97595T>A (p.Ile32532Asn)
c.79211T>A (p.Ile26404Asn)
c.100706T>A (p.Ile33569Asn)
c.100703T>A (p.Ile33568Asn)
c.100136T>A (p.Ile33379Asn)
c.97478T>A (p.Ile32493Asn)
c.97397T>A (p.Ile32466Asn)
c.79160T>A (p.Ile26387Asn)
c.69014T>A (p.Ile23005Asn)
2g.178530351T>ACA349406383TTN,TTN-AS1c.98560A>T (p.Ile32854Phe)
c.79645A>T (p.Ile26549Phe)
c.79444A>T (p.Ile26482Phe)
c.79069A>T (p.Ile26357Phe)
c.106264A>T (p.Ile35422Phe)
c.101341A>T (p.Ile33781Phe)
n.446+6715T>A
n.220-5381T>A
c.105361A>T (p.Ile35121Phe)
c.79255A>T (p.Ile26419Phe)
c.79114A>T (p.Ile26372Phe)
c.105157A>T (p.Ile35053Phe)
c.100555A>T (p.Ile33519Phe)
c.100552A>T (p.Ile33518Phe)
c.97594A>T (p.Ile32532Phe)
c.79210A>T (p.Ile26404Phe)
c.100705A>T (p.Ile33569Phe)
c.100702A>T (p.Ile33568Phe)
c.100135A>T (p.Ile33379Phe)
c.97477A>T (p.Ile32493Phe)
c.97396A>T (p.Ile32466Phe)
c.79159A>T (p.Ile26387Phe)
c.69013A>T (p.Ile23005Phe)
2g.178530351T>CCA349406384TTN,TTN-AS1c.98560A>G (p.Ile32854Val)
c.79645A>G (p.Ile26549Val)
c.79444A>G (p.Ile26482Val)
c.79069A>G (p.Ile26357Val)
c.106264A>G (p.Ile35422Val)
c.101341A>G (p.Ile33781Val)
n.446+6715T>C
n.220-5381T>C
c.105361A>G (p.Ile35121Val)
c.79255A>G (p.Ile26419Val)
c.79114A>G (p.Ile26372Val)
c.105157A>G (p.Ile35053Val)
c.100555A>G (p.Ile33519Val)
c.100552A>G (p.Ile33518Val)
c.97594A>G (p.Ile32532Val)
c.79210A>G (p.Ile26404Val)
c.100705A>G (p.Ile33569Val)
c.100702A>G (p.Ile33568Val)
c.100135A>G (p.Ile33379Val)
c.97477A>G (p.Ile32493Val)
c.97396A>G (p.Ile32466Val)
c.79159A>G (p.Ile26387Val)
c.69013A>G (p.Ile23005Val)
2g.178530351T>GCA349406385TTN,TTN-AS1c.98560A>C (p.Ile32854Leu)
c.79645A>C (p.Ile26549Leu)
c.79444A>C (p.Ile26482Leu)
c.79069A>C (p.Ile26357Leu)
c.106264A>C (p.Ile35422Leu)
c.101341A>C (p.Ile33781Leu)
n.446+6715T>G
n.220-5381T>G
c.105361A>C (p.Ile35121Leu)
c.79255A>C (p.Ile26419Leu)
c.79114A>C (p.Ile26372Leu)
c.105157A>C (p.Ile35053Leu)
c.100555A>C (p.Ile33519Leu)
c.100552A>C (p.Ile33518Leu)
c.97594A>C (p.Ile32532Leu)
c.79210A>C (p.Ile26404Leu)
c.100705A>C (p.Ile33569Leu)
c.100702A>C (p.Ile33568Leu)
c.100135A>C (p.Ile33379Leu)
c.97477A>C (p.Ile32493Leu)
c.97396A>C (p.Ile32466Leu)
c.79159A>C (p.Ile26387Leu)
c.69013A>C (p.Ile23005Leu)
2g.178530352T>ACA430235196TTN,TTN-AS1c.98559A>T (p.Val32853=)
c.79644A>T (p.Val26548=)
c.79443A>T (p.Val26481=)
c.79068A>T (p.Val26356=)
c.106263A>T (p.Val35421=)
c.101340A>T (p.Val33780=)
n.446+6716T>A
n.220-5380T>A
c.105360A>T (p.Val35120=)
c.79254A>T (p.Val26418=)
c.79113A>T (p.Val26371=)
c.105156A>T (p.Val35052=)
c.100554A>T (p.Val33518=)
c.100551A>T (p.Val33517=)
c.97593A>T (p.Val32531=)
c.79209A>T (p.Val26403=)
c.100704A>T (p.Val33568=)
c.100701A>T (p.Val33567=)
c.100134A>T (p.Val33378=)
c.97476A>T (p.Val32492=)
c.97395A>T (p.Val32465=)
c.79158A>T (p.Val26386=)
c.69012A>T (p.Val23004=)
2g.178530352T>CCA430235197TTN,TTN-AS1c.98559A>G (p.Val32853=)
c.79644A>G (p.Val26548=)
c.79443A>G (p.Val26481=)
c.79068A>G (p.Val26356=)
c.106263A>G (p.Val35421=)
c.101340A>G (p.Val33780=)
n.446+6716T>C
n.220-5380T>C
c.105360A>G (p.Val35120=)
c.79254A>G (p.Val26418=)
c.79113A>G (p.Val26371=)
c.105156A>G (p.Val35052=)
c.100554A>G (p.Val33518=)
c.100551A>G (p.Val33517=)
c.97593A>G (p.Val32531=)
c.79209A>G (p.Val26403=)
c.100704A>G (p.Val33568=)
c.100701A>G (p.Val33567=)
c.100134A>G (p.Val33378=)
c.97476A>G (p.Val32492=)
c.97395A>G (p.Val32465=)
c.79158A>G (p.Val26386=)
c.69012A>G (p.Val23004=)
2g.178530352T>GCA430235198TTN,TTN-AS1c.98559A>C (p.Val32853=)
c.79644A>C (p.Val26548=)
c.79443A>C (p.Val26481=)
c.79068A>C (p.Val26356=)
c.106263A>C (p.Val35421=)
c.101340A>C (p.Val33780=)
n.446+6716T>G
n.220-5380T>G
c.105360A>C (p.Val35120=)
c.79254A>C (p.Val26418=)
c.79113A>C (p.Val26371=)
c.105156A>C (p.Val35052=)
c.100554A>C (p.Val33518=)
c.100551A>C (p.Val33517=)
c.97593A>C (p.Val32531=)
c.79209A>C (p.Val26403=)
c.100704A>C (p.Val33568=)
c.100701A>C (p.Val33567=)
c.100134A>C (p.Val33378=)
c.97476A>C (p.Val32492=)
c.97395A>C (p.Val32465=)
c.79158A>C (p.Val26386=)
c.69012A>C (p.Val23004=)
2g.178530352T=CA1310514543TTN,TTN-AS1c.98559A= (p.Val32853=)
c.79644A= (p.Val26548=)
c.79443A= (p.Val26481=)
c.79068A= (p.Val26356=)
c.106263A= (p.Val35421=)
c.101340A= (p.Val33780=)
n.446+6716T=
n.220-5380T=
c.105360A= (p.Val35120=)
c.79254A= (p.Val26418=)
c.79113A= (p.Val26371=)
c.105156A= (p.Val35052=)
c.100554A= (p.Val33518=)
c.100551A= (p.Val33517=)
c.97593A= (p.Val32531=)
c.79209A= (p.Val26403=)
c.100704A= (p.Val33568=)
c.100701A= (p.Val33567=)
c.100134A= (p.Val33378=)
c.97476A= (p.Val32492=)
c.97395A= (p.Val32465=)
c.79158A= (p.Val26386=)
c.69012A= (p.Val23004=)
2g.178530353A>CCA349406386TTN,TTN-AS1c.98558T>G (p.Val32853Gly)
c.79643T>G (p.Val26548Gly)
c.79442T>G (p.Val26481Gly)
c.79067T>G (p.Val26356Gly)
c.106262T>G (p.Val35421Gly)
c.101339T>G (p.Val33780Gly)
n.446+6717A>C
n.220-5379A>C
c.105359T>G (p.Val35120Gly)
c.79253T>G (p.Val26418Gly)
c.79112T>G (p.Val26371Gly)
c.105155T>G (p.Val35052Gly)
c.100553T>G (p.Val33518Gly)
c.100550T>G (p.Val33517Gly)
c.97592T>G (p.Val32531Gly)
c.79208T>G (p.Val26403Gly)
c.100703T>G (p.Val33568Gly)
c.100700T>G (p.Val33567Gly)
c.100133T>G (p.Val33378Gly)
c.97475T>G (p.Val32492Gly)
c.97394T>G (p.Val32465Gly)
c.79157T>G (p.Val26386Gly)
c.69011T>G (p.Val23004Gly)
2g.178530353A>GCA349406387TTN,TTN-AS1c.98558T>C (p.Val32853Ala)
c.79643T>C (p.Val26548Ala)
c.79442T>C (p.Val26481Ala)
c.79067T>C (p.Val26356Ala)
c.106262T>C (p.Val35421Ala)
c.101339T>C (p.Val33780Ala)
n.446+6717A>G
n.220-5379A>G
c.105359T>C (p.Val35120Ala)
c.79253T>C (p.Val26418Ala)
c.79112T>C (p.Val26371Ala)
c.105155T>C (p.Val35052Ala)
c.100553T>C (p.Val33518Ala)
c.100550T>C (p.Val33517Ala)
c.97592T>C (p.Val32531Ala)
c.79208T>C (p.Val26403Ala)
c.100703T>C (p.Val33568Ala)
c.100700T>C (p.Val33567Ala)
c.100133T>C (p.Val33378Ala)
c.97475T>C (p.Val32492Ala)
c.97394T>C (p.Val32465Ala)
c.79157T>C (p.Val26386Ala)
c.69011T>C (p.Val23004Ala)
2g.178530353A>TCA349406388TTN,TTN-AS1c.98558T>A (p.Val32853Glu)
c.79643T>A (p.Val26548Glu)
c.79442T>A (p.Val26481Glu)
c.79067T>A (p.Val26356Glu)
c.106262T>A (p.Val35421Glu)
c.101339T>A (p.Val33780Glu)
n.446+6717A>T
n.220-5379A>T
c.105359T>A (p.Val35120Glu)
c.79253T>A (p.Val26418Glu)
c.79112T>A (p.Val26371Glu)
c.105155T>A (p.Val35052Glu)
c.100553T>A (p.Val33518Glu)
c.100550T>A (p.Val33517Glu)
c.97592T>A (p.Val32531Glu)
c.79208T>A (p.Val26403Glu)
c.100703T>A (p.Val33568Glu)
c.100700T>A (p.Val33567Glu)
c.100133T>A (p.Val33378Glu)
c.97475T>A (p.Val32492Glu)
c.97394T>A (p.Val32465Glu)
c.79157T>A (p.Val26386Glu)
c.69011T>A (p.Val23004Glu)
2g.178530353dupCA1139657397TTN,TTN-AS1c.98558dup (p.Ile32854AsnfsTer17)
c.79643dup (p.Ile26549AsnfsTer17)
c.79442dup (p.Ile26482AsnfsTer17)
c.79067dup (p.Ile26357AsnfsTer17)
c.106262dup (p.Ile35422AsnfsTer17)
c.101339dup (p.Ile33781AsnfsTer17)
n.446+6717dup
n.220-5379dup
c.105359dup (p.Ile35121AsnfsTer17)
c.79253dup (p.Ile26419AsnfsTer17)
c.79112dup (p.Ile26372AsnfsTer17)
c.105155dup (p.Ile35053AsnfsTer17)
c.100553dup (p.Ile33519AsnfsTer17)
c.100550dup (p.Ile33518AsnfsTer17)
c.97592dup (p.Ile32532AsnfsTer17)
c.79208dup (p.Ile26404AsnfsTer17)
c.100703dup (p.Ile33569AsnfsTer17)
c.100700dup (p.Ile33568AsnfsTer17)
c.100133dup (p.Ile33379AsnfsTer17)
c.97475dup (p.Ile32493AsnfsTer17)
c.97394dup (p.Ile32466AsnfsTer17)
c.79157dup (p.Ile26387AsnfsTer17)
c.69011dup (p.Ile23005AsnfsTer17)
 ClinVar dbSNP
2g.178530354C>ACA349406389TTN,TTN-AS1c.98557G>T (p.Val32853Leu)
c.79642G>T (p.Val26548Leu)
c.79441G>T (p.Val26481Leu)
c.79066G>T (p.Val26356Leu)
c.106261G>T (p.Val35421Leu)
c.101338G>T (p.Val33780Leu)
n.446+6718C>A
n.220-5378C>A
c.105358G>T (p.Val35120Leu)
c.79252G>T (p.Val26418Leu)
c.79111G>T (p.Val26371Leu)
c.105154G>T (p.Val35052Leu)
c.100552G>T (p.Val33518Leu)
c.100549G>T (p.Val33517Leu)
c.97591G>T (p.Val32531Leu)
c.79207G>T (p.Val26403Leu)
c.100702G>T (p.Val33568Leu)
c.100699G>T (p.Val33567Leu)
c.100132G>T (p.Val33378Leu)
c.97474G>T (p.Val32492Leu)
c.97393G>T (p.Val32465Leu)
c.79156G>T (p.Val26386Leu)
c.69010G>T (p.Val23004Leu)
2g.178530354C>GCA349406391TTN,TTN-AS1c.98557G>C (p.Val32853Leu)
c.79642G>C (p.Val26548Leu)
c.79441G>C (p.Val26481Leu)
c.79066G>C (p.Val26356Leu)
c.106261G>C (p.Val35421Leu)
c.101338G>C (p.Val33780Leu)
n.446+6718C>G
n.220-5378C>G
c.105358G>C (p.Val35120Leu)
c.79252G>C (p.Val26418Leu)
c.79111G>C (p.Val26371Leu)
c.105154G>C (p.Val35052Leu)
c.100552G>C (p.Val33518Leu)
c.100549G>C (p.Val33517Leu)
c.97591G>C (p.Val32531Leu)
c.79207G>C (p.Val26403Leu)
c.100702G>C (p.Val33568Leu)
c.100699G>C (p.Val33567Leu)
c.100132G>C (p.Val33378Leu)
c.97474G>C (p.Val32492Leu)
c.97393G>C (p.Val32465Leu)
c.79156G>C (p.Val26386Leu)
c.69010G>C (p.Val23004Leu)
 gnomAD v4
2g.178530354C>TCA349406390TTN,TTN-AS1c.98557G>A (p.Val32853Ile)
c.79642G>A (p.Val26548Ile)
c.79441G>A (p.Val26481Ile)
c.79066G>A (p.Val26356Ile)
c.106261G>A (p.Val35421Ile)
c.101338G>A (p.Val33780Ile)
n.446+6718C>T
n.220-5378C>T
c.105358G>A (p.Val35120Ile)
c.79252G>A (p.Val26418Ile)
c.79111G>A (p.Val26371Ile)
c.105154G>A (p.Val35052Ile)
c.100552G>A (p.Val33518Ile)
c.100549G>A (p.Val33517Ile)
c.97591G>A (p.Val32531Ile)
c.79207G>A (p.Val26403Ile)
c.100702G>A (p.Val33568Ile)
c.100699G>A (p.Val33567Ile)
c.100132G>A (p.Val33378Ile)
c.97474G>A (p.Val32492Ile)
c.97393G>A (p.Val32465Ile)
c.79156G>A (p.Val26386Ile)
c.69010G>A (p.Val23004Ile)
2g.178530355T>ACA430235201TTN,TTN-AS1c.98556A>T (p.Pro32852=)
c.79641A>T (p.Pro26547=)
c.79440A>T (p.Pro26480=)
c.79065A>T (p.Pro26355=)
c.106260A>T (p.Pro35420=)
c.101337A>T (p.Pro33779=)
n.446+6719T>A
n.220-5377T>A
c.105357A>T (p.Pro35119=)
c.79251A>T (p.Pro26417=)
c.79110A>T (p.Pro26370=)
c.105153A>T (p.Pro35051=)
c.100551A>T (p.Pro33517=)
c.100548A>T (p.Pro33516=)
c.97590A>T (p.Pro32530=)
c.79206A>T (p.Pro26402=)
c.100701A>T (p.Pro33567=)
c.100698A>T (p.Pro33566=)
c.100131A>T (p.Pro33377=)
c.97473A>T (p.Pro32491=)
c.97392A>T (p.Pro32464=)
c.79155A>T (p.Pro26385=)
c.69009A>T (p.Pro23003=)
2g.178530355T>CCA430235202TTN,TTN-AS1c.98556A>G (p.Pro32852=)
c.79641A>G (p.Pro26547=)
c.79440A>G (p.Pro26480=)
c.79065A>G (p.Pro26355=)
c.106260A>G (p.Pro35420=)
c.101337A>G (p.Pro33779=)
n.446+6719T>C
n.220-5377T>C
c.105357A>G (p.Pro35119=)
c.79251A>G (p.Pro26417=)
c.79110A>G (p.Pro26370=)
c.105153A>G (p.Pro35051=)
c.100551A>G (p.Pro33517=)
c.100548A>G (p.Pro33516=)
c.97590A>G (p.Pro32530=)
c.79206A>G (p.Pro26402=)
c.100701A>G (p.Pro33567=)
c.100698A>G (p.Pro33566=)
c.100131A>G (p.Pro33377=)
c.97473A>G (p.Pro32491=)
c.97392A>G (p.Pro32464=)
c.79155A>G (p.Pro26385=)
c.69009A>G (p.Pro23003=)
2g.178530355T>GCA430235203TTN,TTN-AS1c.98556A>C (p.Pro32852=)
c.79641A>C (p.Pro26547=)
c.79440A>C (p.Pro26480=)
c.79065A>C (p.Pro26355=)
c.106260A>C (p.Pro35420=)
c.101337A>C (p.Pro33779=)
n.446+6719T>G
n.220-5377T>G
c.105357A>C (p.Pro35119=)
c.79251A>C (p.Pro26417=)
c.79110A>C (p.Pro26370=)
c.105153A>C (p.Pro35051=)
c.100551A>C (p.Pro33517=)
c.100548A>C (p.Pro33516=)
c.97590A>C (p.Pro32530=)
c.79206A>C (p.Pro26402=)
c.100701A>C (p.Pro33567=)
c.100698A>C (p.Pro33566=)
c.100131A>C (p.Pro33377=)
c.97473A>C (p.Pro32491=)
c.97392A>C (p.Pro32464=)
c.79155A>C (p.Pro26385=)
c.69009A>C (p.Pro23003=)
2g.178530355_178530356delinsTGCA1310514544TTN,TTN-AS1c.98555_98556delinsCA (p.Pro32852=)
c.79640_79641delinsCA (p.Pro26547=)
c.79439_79440delinsCA (p.Pro26480=)
c.79064_79065delinsCA (p.Pro26355=)
c.106259_106260delinsCA (p.Pro35420=)
c.101336_101337delinsCA (p.Pro33779=)
n.446+6719_446+6720delinsTG
n.220-5377_220-5376delinsTG
c.105356_105357delinsCA (p.Pro35119=)
c.79250_79251delinsCA (p.Pro26417=)
c.79109_79110delinsCA (p.Pro26370=)
c.105152_105153delinsCA (p.Pro35051=)
c.100550_100551delinsCA (p.Pro33517=)
c.100547_100548delinsCA (p.Pro33516=)
c.97589_97590delinsCA (p.Pro32530=)
c.79205_79206delinsCA (p.Pro26402=)
c.100700_100701delinsCA (p.Pro33567=)
c.100697_100698delinsCA (p.Pro33566=)
c.100130_100131delinsCA (p.Pro33377=)
c.97472_97473delinsCA (p.Pro32491=)
c.97391_97392delinsCA (p.Pro32464=)
c.79154_79155delinsCA (p.Pro26385=)
c.69008_69009delinsCA (p.Pro23003=)
2g.178530356G>ACA349406392TTN,TTN-AS1c.98555C>T (p.Pro32852Leu)
c.79640C>T (p.Pro26547Leu)
c.79439C>T (p.Pro26480Leu)
c.79064C>T (p.Pro26355Leu)
c.106259C>T (p.Pro35420Leu)
c.101336C>T (p.Pro33779Leu)
n.446+6720G>A
n.220-5376G>A
c.105356C>T (p.Pro35119Leu)
c.79250C>T (p.Pro26417Leu)
c.79109C>T (p.Pro26370Leu)
c.105152C>T (p.Pro35051Leu)
c.100550C>T (p.Pro33517Leu)
c.100547C>T (p.Pro33516Leu)
c.97589C>T (p.Pro32530Leu)
c.79205C>T (p.Pro26402Leu)
c.100700C>T (p.Pro33567Leu)
c.100697C>T (p.Pro33566Leu)
c.100130C>T (p.Pro33377Leu)
c.97472C>T (p.Pro32491Leu)
c.97391C>T (p.Pro32464Leu)
c.79154C>T (p.Pro26385Leu)
c.69008C>T (p.Pro23003Leu)
2g.178530356G>CCA1985140TTN,TTN-AS1c.98555C>G (p.Pro32852Arg)
c.79640C>G (p.Pro26547Arg)
c.79439C>G (p.Pro26480Arg)
c.79064C>G (p.Pro26355Arg)
c.106259C>G (p.Pro35420Arg)
c.101336C>G (p.Pro33779Arg)
n.446+6720G>C
n.220-5376G>C
c.105356C>G (p.Pro35119Arg)
c.79250C>G (p.Pro26417Arg)
c.79109C>G (p.Pro26370Arg)
c.105152C>G (p.Pro35051Arg)
c.100550C>G (p.Pro33517Arg)
c.100547C>G (p.Pro33516Arg)
c.97589C>G (p.Pro32530Arg)
c.79205C>G (p.Pro26402Arg)
c.100700C>G (p.Pro33567Arg)
c.100697C>G (p.Pro33566Arg)
c.100130C>G (p.Pro33377Arg)
c.97472C>G (p.Pro32491Arg)
c.97391C>G (p.Pro32464Arg)
c.79154C>G (p.Pro26385Arg)
c.69008C>G (p.Pro23003Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530356G=CA1310514547TTN,TTN-AS1c.98555C= (p.Pro32852=)
c.79640C= (p.Pro26547=)
c.79439C= (p.Pro26480=)
c.79064C= (p.Pro26355=)
c.106259C= (p.Pro35420=)
c.101336C= (p.Pro33779=)
n.446+6720G=
n.220-5376G=
c.105356C= (p.Pro35119=)
c.79250C= (p.Pro26417=)
c.79109C= (p.Pro26370=)
c.105152C= (p.Pro35051=)
c.100550C= (p.Pro33517=)
c.100547C= (p.Pro33516=)
c.97589C= (p.Pro32530=)
c.79205C= (p.Pro26402=)
c.100700C= (p.Pro33567=)
c.100697C= (p.Pro33566=)
c.100130C= (p.Pro33377=)
c.97472C= (p.Pro32491=)
c.97391C= (p.Pro32464=)
c.79154C= (p.Pro26385=)
c.69008C= (p.Pro23003=)
2g.178530356G>TCA349406393TTN,TTN-AS1c.98555C>A (p.Pro32852Gln)
c.79640C>A (p.Pro26547Gln)
c.79439C>A (p.Pro26480Gln)
c.79064C>A (p.Pro26355Gln)
c.106259C>A (p.Pro35420Gln)
c.101336C>A (p.Pro33779Gln)
n.446+6720G>T
n.220-5376G>T
c.105356C>A (p.Pro35119Gln)
c.79250C>A (p.Pro26417Gln)
c.79109C>A (p.Pro26370Gln)
c.105152C>A (p.Pro35051Gln)
c.100550C>A (p.Pro33517Gln)
c.100547C>A (p.Pro33516Gln)
c.97589C>A (p.Pro32530Gln)
c.79205C>A (p.Pro26402Gln)
c.100700C>A (p.Pro33567Gln)
c.100697C>A (p.Pro33566Gln)
c.100130C>A (p.Pro33377Gln)
c.97472C>A (p.Pro32491Gln)
c.97391C>A (p.Pro32464Gln)
c.79154C>A (p.Pro26385Gln)
c.69008C>A (p.Pro23003Gln)
2g.178530357delCA1139657398TTN,TTN-AS1c.98555del (p.Pro32852GlnfsTer2)
c.79640del (p.Pro26547GlnfsTer2)
c.79439del (p.Pro26480GlnfsTer2)
c.79064del (p.Pro26355GlnfsTer2)
c.106259del (p.Pro35420GlnfsTer2)
c.101336del (p.Pro33779GlnfsTer2)
n.446+6721del
n.220-5375del
c.105356del (p.Pro35119GlnfsTer2)
c.79250del (p.Pro26417GlnfsTer2)
c.79109del (p.Pro26370GlnfsTer2)
c.105152del (p.Pro35051GlnfsTer2)
c.100550del (p.Pro33517GlnfsTer2)
c.100547del (p.Pro33516GlnfsTer2)
c.97589del (p.Pro32530GlnfsTer2)
c.79205del (p.Pro26402GlnfsTer2)
c.100700del (p.Pro33567GlnfsTer2)
c.100697del (p.Pro33566GlnfsTer2)
c.100130del (p.Pro33377GlnfsTer2)
c.97472del (p.Pro32491GlnfsTer2)
c.97391del (p.Pro32464GlnfsTer2)
c.79154del (p.Pro26385GlnfsTer2)
c.69008del (p.Pro23003GlnfsTer2)
 ClinVar dbSNP
2g.178530357G>ACA1985141TTN,TTN-AS1c.98554C>T (p.Pro32852Ser)
c.79639C>T (p.Pro26547Ser)
c.79438C>T (p.Pro26480Ser)
c.79063C>T (p.Pro26355Ser)
c.106258C>T (p.Pro35420Ser)
c.101335C>T (p.Pro33779Ser)
n.446+6721G>A
n.220-5375G>A
c.105355C>T (p.Pro35119Ser)
c.79249C>T (p.Pro26417Ser)
c.79108C>T (p.Pro26370Ser)
c.105151C>T (p.Pro35051Ser)
c.100549C>T (p.Pro33517Ser)
c.100546C>T (p.Pro33516Ser)
c.97588C>T (p.Pro32530Ser)
c.79204C>T (p.Pro26402Ser)
c.100699C>T (p.Pro33567Ser)
c.100696C>T (p.Pro33566Ser)
c.100129C>T (p.Pro33377Ser)
c.97471C>T (p.Pro32491Ser)
c.97390C>T (p.Pro32464Ser)
c.79153C>T (p.Pro26385Ser)
c.69007C>T (p.Pro23003Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530357G>CCA349406394TTN,TTN-AS1c.98554C>G (p.Pro32852Ala)
c.79639C>G (p.Pro26547Ala)
c.79438C>G (p.Pro26480Ala)
c.79063C>G (p.Pro26355Ala)
c.106258C>G (p.Pro35420Ala)
c.101335C>G (p.Pro33779Ala)
n.446+6721G>C
n.220-5375G>C
c.105355C>G (p.Pro35119Ala)
c.79249C>G (p.Pro26417Ala)
c.79108C>G (p.Pro26370Ala)
c.105151C>G (p.Pro35051Ala)
c.100549C>G (p.Pro33517Ala)
c.100546C>G (p.Pro33516Ala)
c.97588C>G (p.Pro32530Ala)
c.79204C>G (p.Pro26402Ala)
c.100699C>G (p.Pro33567Ala)
c.100696C>G (p.Pro33566Ala)
c.100129C>G (p.Pro33377Ala)
c.97471C>G (p.Pro32491Ala)
c.97390C>G (p.Pro32464Ala)
c.79153C>G (p.Pro26385Ala)
c.69007C>G (p.Pro23003Ala)
2g.178530357G=CA1310514551TTN,TTN-AS1c.98554C= (p.Pro32852=)
c.79639C= (p.Pro26547=)
c.79438C= (p.Pro26480=)
c.79063C= (p.Pro26355=)
c.106258C= (p.Pro35420=)
c.101335C= (p.Pro33779=)
n.446+6721G=
n.220-5375G=
c.105355C= (p.Pro35119=)
c.79249C= (p.Pro26417=)
c.79108C= (p.Pro26370=)
c.105151C= (p.Pro35051=)
c.100549C= (p.Pro33517=)
c.100546C= (p.Pro33516=)
c.97588C= (p.Pro32530=)
c.79204C= (p.Pro26402=)
c.100699C= (p.Pro33567=)
c.100696C= (p.Pro33566=)
c.100129C= (p.Pro33377=)
c.97471C= (p.Pro32491=)
c.97390C= (p.Pro32464=)
c.79153C= (p.Pro26385=)
c.69007C= (p.Pro23003=)
2g.178530357G>TCA349406395TTN,TTN-AS1c.98554C>A (p.Pro32852Thr)
c.79639C>A (p.Pro26547Thr)
c.79438C>A (p.Pro26480Thr)
c.79063C>A (p.Pro26355Thr)
c.106258C>A (p.Pro35420Thr)
c.101335C>A (p.Pro33779Thr)
n.446+6721G>T
n.220-5375G>T
c.105355C>A (p.Pro35119Thr)
c.79249C>A (p.Pro26417Thr)
c.79108C>A (p.Pro26370Thr)
c.105151C>A (p.Pro35051Thr)
c.100549C>A (p.Pro33517Thr)
c.100546C>A (p.Pro33516Thr)
c.97588C>A (p.Pro32530Thr)
c.79204C>A (p.Pro26402Thr)
c.100699C>A (p.Pro33567Thr)
c.100696C>A (p.Pro33566Thr)
c.100129C>A (p.Pro33377Thr)
c.97471C>A (p.Pro32491Thr)
c.97390C>A (p.Pro32464Thr)
c.79153C>A (p.Pro26385Thr)
c.69007C>A (p.Pro23003Thr)
2g.178530358T>ACA349406396TTN,TTN-AS1c.98553A>T (p.Lys32851Asn)
c.79638A>T (p.Lys26546Asn)
c.79437A>T (p.Lys26479Asn)
c.79062A>T (p.Lys26354Asn)
c.106257A>T (p.Lys35419Asn)
c.101334A>T (p.Lys33778Asn)
n.446+6722T>A
n.220-5374T>A
c.105354A>T (p.Lys35118Asn)
c.79248A>T (p.Lys26416Asn)
c.79107A>T (p.Lys26369Asn)
c.105150A>T (p.Lys35050Asn)
c.100548A>T (p.Lys33516Asn)
c.100545A>T (p.Lys33515Asn)
c.97587A>T (p.Lys32529Asn)
c.79203A>T (p.Lys26401Asn)
c.100698A>T (p.Lys33566Asn)
c.100695A>T (p.Lys33565Asn)
c.100128A>T (p.Lys33376Asn)
c.97470A>T (p.Lys32490Asn)
c.97389A>T (p.Lys32463Asn)
c.79152A>T (p.Lys26384Asn)
c.69006A>T (p.Lys23002Asn)
2g.178530358T>CCA430235208TTN,TTN-AS1c.98553A>G (p.Lys32851=)
c.79638A>G (p.Lys26546=)
c.79437A>G (p.Lys26479=)
c.79062A>G (p.Lys26354=)
c.106257A>G (p.Lys35419=)
c.101334A>G (p.Lys33778=)
n.446+6722T>C
n.220-5374T>C
c.105354A>G (p.Lys35118=)
c.79248A>G (p.Lys26416=)
c.79107A>G (p.Lys26369=)
c.105150A>G (p.Lys35050=)
c.100548A>G (p.Lys33516=)
c.100545A>G (p.Lys33515=)
c.97587A>G (p.Lys32529=)
c.79203A>G (p.Lys26401=)
c.100698A>G (p.Lys33566=)
c.100695A>G (p.Lys33565=)
c.100128A>G (p.Lys33376=)
c.97470A>G (p.Lys32490=)
c.97389A>G (p.Lys32463=)
c.79152A>G (p.Lys26384=)
c.69006A>G (p.Lys23002=)
2g.178530358T>GCA349406397TTN,TTN-AS1c.98553A>C (p.Lys32851Asn)
c.79638A>C (p.Lys26546Asn)
c.79437A>C (p.Lys26479Asn)
c.79062A>C (p.Lys26354Asn)
c.106257A>C (p.Lys35419Asn)
c.101334A>C (p.Lys33778Asn)
n.446+6722T>G
n.220-5374T>G
c.105354A>C (p.Lys35118Asn)
c.79248A>C (p.Lys26416Asn)
c.79107A>C (p.Lys26369Asn)
c.105150A>C (p.Lys35050Asn)
c.100548A>C (p.Lys33516Asn)
c.100545A>C (p.Lys33515Asn)
c.97587A>C (p.Lys32529Asn)
c.79203A>C (p.Lys26401Asn)
c.100698A>C (p.Lys33566Asn)
c.100695A>C (p.Lys33565Asn)
c.100128A>C (p.Lys33376Asn)
c.97470A>C (p.Lys32490Asn)
c.97389A>C (p.Lys32463Asn)
c.79152A>C (p.Lys26384Asn)
c.69006A>C (p.Lys23002Asn)
2g.178530359T>ACA349406398TTN,TTN-AS1c.98552A>T (p.Lys32851Ile)
c.79637A>T (p.Lys26546Ile)
c.79436A>T (p.Lys26479Ile)
c.79061A>T (p.Lys26354Ile)
c.106256A>T (p.Lys35419Ile)
c.101333A>T (p.Lys33778Ile)
n.446+6723T>A
n.220-5373T>A
c.105353A>T (p.Lys35118Ile)
c.79247A>T (p.Lys26416Ile)
c.79106A>T (p.Lys26369Ile)
c.105149A>T (p.Lys35050Ile)
c.100547A>T (p.Lys33516Ile)
c.100544A>T (p.Lys33515Ile)
c.97586A>T (p.Lys32529Ile)
c.79202A>T (p.Lys26401Ile)
c.100697A>T (p.Lys33566Ile)
c.100694A>T (p.Lys33565Ile)
c.100127A>T (p.Lys33376Ile)
c.97469A>T (p.Lys32490Ile)
c.97388A>T (p.Lys32463Ile)
c.79151A>T (p.Lys26384Ile)
c.69005A>T (p.Lys23002Ile)
 gnomAD v4
2g.178530359T>CCA349406399TTN,TTN-AS1c.98552A>G (p.Lys32851Arg)
c.79637A>G (p.Lys26546Arg)
c.79436A>G (p.Lys26479Arg)
c.79061A>G (p.Lys26354Arg)
c.106256A>G (p.Lys35419Arg)
c.101333A>G (p.Lys33778Arg)
n.446+6723T>C
n.220-5373T>C
c.105353A>G (p.Lys35118Arg)
c.79247A>G (p.Lys26416Arg)
c.79106A>G (p.Lys26369Arg)
c.105149A>G (p.Lys35050Arg)
c.100547A>G (p.Lys33516Arg)
c.100544A>G (p.Lys33515Arg)
c.97586A>G (p.Lys32529Arg)
c.79202A>G (p.Lys26401Arg)
c.100697A>G (p.Lys33566Arg)
c.100694A>G (p.Lys33565Arg)
c.100127A>G (p.Lys33376Arg)
c.97469A>G (p.Lys32490Arg)
c.97388A>G (p.Lys32463Arg)
c.79151A>G (p.Lys26384Arg)
c.69005A>G (p.Lys23002Arg)
2g.178530359T>GCA349406400TTN,TTN-AS1c.98552A>C (p.Lys32851Thr)
c.79637A>C (p.Lys26546Thr)
c.79436A>C (p.Lys26479Thr)
c.79061A>C (p.Lys26354Thr)
c.106256A>C (p.Lys35419Thr)
c.101333A>C (p.Lys33778Thr)
n.446+6723T>G
n.220-5373T>G
c.105353A>C (p.Lys35118Thr)
c.79247A>C (p.Lys26416Thr)
c.79106A>C (p.Lys26369Thr)
c.105149A>C (p.Lys35050Thr)
c.100547A>C (p.Lys33516Thr)
c.100544A>C (p.Lys33515Thr)
c.97586A>C (p.Lys32529Thr)
c.79202A>C (p.Lys26401Thr)
c.100697A>C (p.Lys33566Thr)
c.100694A>C (p.Lys33565Thr)
c.100127A>C (p.Lys33376Thr)
c.97469A>C (p.Lys32490Thr)
c.97388A>C (p.Lys32463Thr)
c.79151A>C (p.Lys26384Thr)
c.69005A>C (p.Lys23002Thr)
2g.178530360T>ACA349406402TTN,TTN-AS1c.98551A>T (p.Lys32851Ter)
c.79636A>T (p.Lys26546Ter)
c.79435A>T (p.Lys26479Ter)
c.79060A>T (p.Lys26354Ter)
c.106255A>T (p.Lys35419Ter)
c.101332A>T (p.Lys33778Ter)
n.446+6724T>A
n.220-5372T>A
c.105352A>T (p.Lys35118Ter)
c.79246A>T (p.Lys26416Ter)
c.79105A>T (p.Lys26369Ter)
c.105148A>T (p.Lys35050Ter)
c.100546A>T (p.Lys33516Ter)
c.100543A>T (p.Lys33515Ter)
c.97585A>T (p.Lys32529Ter)
c.79201A>T (p.Lys26401Ter)
c.100696A>T (p.Lys33566Ter)
c.100693A>T (p.Lys33565Ter)
c.100126A>T (p.Lys33376Ter)
c.97468A>T (p.Lys32490Ter)
c.97387A>T (p.Lys32463Ter)
c.79150A>T (p.Lys26384Ter)
c.69004A>T (p.Lys23002Ter)
2g.178530360T>CCA349406403TTN,TTN-AS1c.98551A>G (p.Lys32851Glu)
c.79636A>G (p.Lys26546Glu)
c.79435A>G (p.Lys26479Glu)
c.79060A>G (p.Lys26354Glu)
c.106255A>G (p.Lys35419Glu)
c.101332A>G (p.Lys33778Glu)
n.446+6724T>C
n.220-5372T>C
c.105352A>G (p.Lys35118Glu)
c.79246A>G (p.Lys26416Glu)
c.79105A>G (p.Lys26369Glu)
c.105148A>G (p.Lys35050Glu)
c.100546A>G (p.Lys33516Glu)
c.100543A>G (p.Lys33515Glu)
c.97585A>G (p.Lys32529Glu)
c.79201A>G (p.Lys26401Glu)
c.100696A>G (p.Lys33566Glu)
c.100693A>G (p.Lys33565Glu)
c.100126A>G (p.Lys33376Glu)
c.97468A>G (p.Lys32490Glu)
c.97387A>G (p.Lys32463Glu)
c.79150A>G (p.Lys26384Glu)
c.69004A>G (p.Lys23002Glu)
2g.178530360T>GCA349406401TTN,TTN-AS1c.98551A>C (p.Lys32851Gln)
c.79636A>C (p.Lys26546Gln)
c.79435A>C (p.Lys26479Gln)
c.79060A>C (p.Lys26354Gln)
c.106255A>C (p.Lys35419Gln)
c.101332A>C (p.Lys33778Gln)
n.446+6724T>G
n.220-5372T>G
c.105352A>C (p.Lys35118Gln)
c.79246A>C (p.Lys26416Gln)
c.79105A>C (p.Lys26369Gln)
c.105148A>C (p.Lys35050Gln)
c.100546A>C (p.Lys33516Gln)
c.100543A>C (p.Lys33515Gln)
c.97585A>C (p.Lys32529Gln)
c.79201A>C (p.Lys26401Gln)
c.100696A>C (p.Lys33566Gln)
c.100693A>C (p.Lys33565Gln)
c.100126A>C (p.Lys33376Gln)
c.97468A>C (p.Lys32490Gln)
c.97387A>C (p.Lys32463Gln)
c.79150A>C (p.Lys26384Gln)
c.69004A>C (p.Lys23002Gln)
2g.178530361T>ACA430235216TTN,TTN-AS1c.98550A>T (p.Ser32850=)
c.79635A>T (p.Ser26545=)
c.79434A>T (p.Ser26478=)
c.79059A>T (p.Ser26353=)
c.106254A>T (p.Ser35418=)
c.101331A>T (p.Ser33777=)
n.446+6725T>A
n.220-5371T>A
c.105351A>T (p.Ser35117=)
c.79245A>T (p.Ser26415=)
c.79104A>T (p.Ser26368=)
c.105147A>T (p.Ser35049=)
c.100545A>T (p.Ser33515=)
c.100542A>T (p.Ser33514=)
c.97584A>T (p.Ser32528=)
c.79200A>T (p.Ser26400=)
c.100695A>T (p.Ser33565=)
c.100692A>T (p.Ser33564=)
c.100125A>T (p.Ser33375=)
c.97467A>T (p.Ser32489=)
c.97386A>T (p.Ser32462=)
c.79149A>T (p.Ser26383=)
c.69003A>T (p.Ser23001=)
2g.178530361T>CCA430235218TTN,TTN-AS1c.98550A>G (p.Ser32850=)
c.79635A>G (p.Ser26545=)
c.79434A>G (p.Ser26478=)
c.79059A>G (p.Ser26353=)
c.106254A>G (p.Ser35418=)
c.101331A>G (p.Ser33777=)
n.446+6725T>C
n.220-5371T>C
c.105351A>G (p.Ser35117=)
c.79245A>G (p.Ser26415=)
c.79104A>G (p.Ser26368=)
c.105147A>G (p.Ser35049=)
c.100545A>G (p.Ser33515=)
c.100542A>G (p.Ser33514=)
c.97584A>G (p.Ser32528=)
c.79200A>G (p.Ser26400=)
c.100695A>G (p.Ser33565=)
c.100692A>G (p.Ser33564=)
c.100125A>G (p.Ser33375=)
c.97467A>G (p.Ser32489=)
c.97386A>G (p.Ser32462=)
c.79149A>G (p.Ser26383=)
c.69003A>G (p.Ser23001=)
2g.178530361T>GCA430235220TTN,TTN-AS1c.98550A>C (p.Ser32850=)
c.79635A>C (p.Ser26545=)
c.79434A>C (p.Ser26478=)
c.79059A>C (p.Ser26353=)
c.106254A>C (p.Ser35418=)
c.101331A>C (p.Ser33777=)
n.446+6725T>G
n.220-5371T>G
c.105351A>C (p.Ser35117=)
c.79245A>C (p.Ser26415=)
c.79104A>C (p.Ser26368=)
c.105147A>C (p.Ser35049=)
c.100545A>C (p.Ser33515=)
c.100542A>C (p.Ser33514=)
c.97584A>C (p.Ser32528=)
c.79200A>C (p.Ser26400=)
c.100695A>C (p.Ser33565=)
c.100692A>C (p.Ser33564=)
c.100125A>C (p.Ser33375=)
c.97467A>C (p.Ser32489=)
c.97386A>C (p.Ser32462=)
c.79149A>C (p.Ser26383=)
c.69003A>C (p.Ser23001=)
2g.178530362G>ACA349406404TTN,TTN-AS1c.98549C>T (p.Ser32850Leu)
c.79634C>T (p.Ser26545Leu)
c.79433C>T (p.Ser26478Leu)
c.79058C>T (p.Ser26353Leu)
c.106253C>T (p.Ser35418Leu)
c.101330C>T (p.Ser33777Leu)
n.446+6726G>A
n.220-5370G>A
c.105350C>T (p.Ser35117Leu)
c.79244C>T (p.Ser26415Leu)
c.79103C>T (p.Ser26368Leu)
c.105146C>T (p.Ser35049Leu)
c.100544C>T (p.Ser33515Leu)
c.100541C>T (p.Ser33514Leu)
c.97583C>T (p.Ser32528Leu)
c.79199C>T (p.Ser26400Leu)
c.100694C>T (p.Ser33565Leu)
c.100691C>T (p.Ser33564Leu)
c.100124C>T (p.Ser33375Leu)
c.97466C>T (p.Ser32489Leu)
c.97385C>T (p.Ser32462Leu)
c.79148C>T (p.Ser26383Leu)
c.69002C>T (p.Ser23001Leu)
 ClinVar dbSNP
2g.178530362G>CCA349406405TTN,TTN-AS1c.98549C>G (p.Ser32850Ter)
c.79634C>G (p.Ser26545Ter)
c.79433C>G (p.Ser26478Ter)
c.79058C>G (p.Ser26353Ter)
c.106253C>G (p.Ser35418Ter)
c.101330C>G (p.Ser33777Ter)
n.446+6726G>C
n.220-5370G>C
c.105350C>G (p.Ser35117Ter)
c.79244C>G (p.Ser26415Ter)
c.79103C>G (p.Ser26368Ter)
c.105146C>G (p.Ser35049Ter)
c.100544C>G (p.Ser33515Ter)
c.100541C>G (p.Ser33514Ter)
c.97583C>G (p.Ser32528Ter)
c.79199C>G (p.Ser26400Ter)
c.100694C>G (p.Ser33565Ter)
c.100691C>G (p.Ser33564Ter)
c.100124C>G (p.Ser33375Ter)
c.97466C>G (p.Ser32489Ter)
c.97385C>G (p.Ser32462Ter)
c.79148C>G (p.Ser26383Ter)
c.69002C>G (p.Ser23001Ter)
 COSMIC COSMIC COSMIC COSMIC
2g.178530362G=CA1310514553TTN,TTN-AS1c.98549C= (p.Ser32850=)
c.79634C= (p.Ser26545=)
c.79433C= (p.Ser26478=)
c.79058C= (p.Ser26353=)
c.106253C= (p.Ser35418=)
c.101330C= (p.Ser33777=)
n.446+6726G=
n.220-5370G=
c.105350C= (p.Ser35117=)
c.79244C= (p.Ser26415=)
c.79103C= (p.Ser26368=)
c.105146C= (p.Ser35049=)
c.100544C= (p.Ser33515=)
c.100541C= (p.Ser33514=)
c.97583C= (p.Ser32528=)
c.79199C= (p.Ser26400=)
c.100694C= (p.Ser33565=)
c.100691C= (p.Ser33564=)
c.100124C= (p.Ser33375=)
c.97466C= (p.Ser32489=)
c.97385C= (p.Ser32462=)
c.79148C= (p.Ser26383=)
c.69002C= (p.Ser23001=)
2g.178530362G>TCA349406406TTN,TTN-AS1c.98549C>A (p.Ser32850Ter)
c.79634C>A (p.Ser26545Ter)
c.79433C>A (p.Ser26478Ter)
c.79058C>A (p.Ser26353Ter)
c.106253C>A (p.Ser35418Ter)
c.101330C>A (p.Ser33777Ter)
n.446+6726G>T
n.220-5370G>T
c.105350C>A (p.Ser35117Ter)
c.79244C>A (p.Ser26415Ter)
c.79103C>A (p.Ser26368Ter)
c.105146C>A (p.Ser35049Ter)
c.100544C>A (p.Ser33515Ter)
c.100541C>A (p.Ser33514Ter)
c.97583C>A (p.Ser32528Ter)
c.79199C>A (p.Ser26400Ter)
c.100694C>A (p.Ser33565Ter)
c.100691C>A (p.Ser33564Ter)
c.100124C>A (p.Ser33375Ter)
c.97466C>A (p.Ser32489Ter)
c.97385C>A (p.Ser32462Ter)
c.79148C>A (p.Ser26383Ter)
c.69002C>A (p.Ser23001Ter)
2g.178530363A>CCA349406407TTN,TTN-AS1c.98548T>G (p.Ser32850Ala)
c.79633T>G (p.Ser26545Ala)
c.79432T>G (p.Ser26478Ala)
c.79057T>G (p.Ser26353Ala)
c.106252T>G (p.Ser35418Ala)
c.101329T>G (p.Ser33777Ala)
n.446+6727A>C
n.220-5369A>C
c.105349T>G (p.Ser35117Ala)
c.79243T>G (p.Ser26415Ala)
c.79102T>G (p.Ser26368Ala)
c.105145T>G (p.Ser35049Ala)
c.100543T>G (p.Ser33515Ala)
c.100540T>G (p.Ser33514Ala)
c.97582T>G (p.Ser32528Ala)
c.79198T>G (p.Ser26400Ala)
c.100693T>G (p.Ser33565Ala)
c.100690T>G (p.Ser33564Ala)
c.100123T>G (p.Ser33375Ala)
c.97465T>G (p.Ser32489Ala)
c.97384T>G (p.Ser32462Ala)
c.79147T>G (p.Ser26383Ala)
c.69001T>G (p.Ser23001Ala)
2g.178530363A>GCA349406408TTN,TTN-AS1c.98548T>C (p.Ser32850Pro)
c.79633T>C (p.Ser26545Pro)
c.79432T>C (p.Ser26478Pro)
c.79057T>C (p.Ser26353Pro)
c.106252T>C (p.Ser35418Pro)
c.101329T>C (p.Ser33777Pro)
n.446+6727A>G
n.220-5369A>G
c.105349T>C (p.Ser35117Pro)
c.79243T>C (p.Ser26415Pro)
c.79102T>C (p.Ser26368Pro)
c.105145T>C (p.Ser35049Pro)
c.100543T>C (p.Ser33515Pro)
c.100540T>C (p.Ser33514Pro)
c.97582T>C (p.Ser32528Pro)
c.79198T>C (p.Ser26400Pro)
c.100693T>C (p.Ser33565Pro)
c.100690T>C (p.Ser33564Pro)
c.100123T>C (p.Ser33375Pro)
c.97465T>C (p.Ser32489Pro)
c.97384T>C (p.Ser32462Pro)
c.79147T>C (p.Ser26383Pro)
c.69001T>C (p.Ser23001Pro)
2g.178530363A>TCA349406409TTN,TTN-AS1c.98548T>A (p.Ser32850Thr)
c.79633T>A (p.Ser26545Thr)
c.79432T>A (p.Ser26478Thr)
c.79057T>A (p.Ser26353Thr)
c.106252T>A (p.Ser35418Thr)
c.101329T>A (p.Ser33777Thr)
n.446+6727A>T
n.220-5369A>T
c.105349T>A (p.Ser35117Thr)
c.79243T>A (p.Ser26415Thr)
c.79102T>A (p.Ser26368Thr)
c.105145T>A (p.Ser35049Thr)
c.100543T>A (p.Ser33515Thr)
c.100540T>A (p.Ser33514Thr)
c.97582T>A (p.Ser32528Thr)
c.79198T>A (p.Ser26400Thr)
c.100693T>A (p.Ser33565Thr)
c.100690T>A (p.Ser33564Thr)
c.100123T>A (p.Ser33375Thr)
c.97465T>A (p.Ser32489Thr)
c.97384T>A (p.Ser32462Thr)
c.79147T>A (p.Ser26383Thr)
c.69001T>A (p.Ser23001Thr)
2g.178530364G>ACA60953318TTN,TTN-AS1c.98547C>T (p.Ser32849=)
c.79632C>T (p.Ser26544=)
c.79431C>T (p.Ser26477=)
c.79056C>T (p.Ser26352=)
c.106251C>T (p.Ser35417=)
c.101328C>T (p.Ser33776=)
n.446+6728G>A
n.220-5368G>A
c.105348C>T (p.Ser35116=)
c.79242C>T (p.Ser26414=)
c.79101C>T (p.Ser26367=)
c.105144C>T (p.Ser35048=)
c.100542C>T (p.Ser33514=)
c.100539C>T (p.Ser33513=)
c.97581C>T (p.Ser32527=)
c.79197C>T (p.Ser26399=)
c.100692C>T (p.Ser33564=)
c.100689C>T (p.Ser33563=)
c.100122C>T (p.Ser33374=)
c.97464C>T (p.Ser32488=)
c.97383C>T (p.Ser32461=)
c.79146C>T (p.Ser26382=)
c.69000C>T (p.Ser23000=)
 dbSNP
2g.178530364G>CCA430235227TTN,TTN-AS1c.98547C>G (p.Ser32849=)
c.79632C>G (p.Ser26544=)
c.79431C>G (p.Ser26477=)
c.79056C>G (p.Ser26352=)
c.106251C>G (p.Ser35417=)
c.101328C>G (p.Ser33776=)
n.446+6728G>C
n.220-5368G>C
c.105348C>G (p.Ser35116=)
c.79242C>G (p.Ser26414=)
c.79101C>G (p.Ser26367=)
c.105144C>G (p.Ser35048=)
c.100542C>G (p.Ser33514=)
c.100539C>G (p.Ser33513=)
c.97581C>G (p.Ser32527=)
c.79197C>G (p.Ser26399=)
c.100692C>G (p.Ser33564=)
c.100689C>G (p.Ser33563=)
c.100122C>G (p.Ser33374=)
c.97464C>G (p.Ser32488=)
c.97383C>G (p.Ser32461=)
c.79146C>G (p.Ser26382=)
c.69000C>G (p.Ser23000=)
2g.178530364G=CA1310514555TTN,TTN-AS1c.98547C= (p.Ser32849=)
c.79632C= (p.Ser26544=)
c.79431C= (p.Ser26477=)
c.79056C= (p.Ser26352=)
c.106251C= (p.Ser35417=)
c.101328C= (p.Ser33776=)
n.446+6728G=
n.220-5368G=
c.105348C= (p.Ser35116=)
c.79242C= (p.Ser26414=)
c.79101C= (p.Ser26367=)
c.105144C= (p.Ser35048=)
c.100542C= (p.Ser33514=)
c.100539C= (p.Ser33513=)
c.97581C= (p.Ser32527=)
c.79197C= (p.Ser26399=)
c.100692C= (p.Ser33564=)
c.100689C= (p.Ser33563=)
c.100122C= (p.Ser33374=)
c.97464C= (p.Ser32488=)
c.97383C= (p.Ser32461=)
c.79146C= (p.Ser26382=)
c.69000C= (p.Ser23000=)
2g.178530364G>TCA430235228TTN,TTN-AS1c.98547C>A (p.Ser32849=)
c.79632C>A (p.Ser26544=)
c.79431C>A (p.Ser26477=)
c.79056C>A (p.Ser26352=)
c.106251C>A (p.Ser35417=)
c.101328C>A (p.Ser33776=)
n.446+6728G>T
n.220-5368G>T
c.105348C>A (p.Ser35116=)
c.79242C>A (p.Ser26414=)
c.79101C>A (p.Ser26367=)
c.105144C>A (p.Ser35048=)
c.100542C>A (p.Ser33514=)
c.100539C>A (p.Ser33513=)
c.97581C>A (p.Ser32527=)
c.79197C>A (p.Ser26399=)
c.100692C>A (p.Ser33564=)
c.100689C>A (p.Ser33563=)
c.100122C>A (p.Ser33374=)
c.97464C>A (p.Ser32488=)
c.97383C>A (p.Ser32461=)
c.79146C>A (p.Ser26382=)
c.69000C>A (p.Ser23000=)
2g.178530365G>ACA349406410TTN,TTN-AS1c.98546C>T (p.Ser32849Phe)
c.79631C>T (p.Ser26544Phe)
c.79430C>T (p.Ser26477Phe)
c.79055C>T (p.Ser26352Phe)
c.106250C>T (p.Ser35417Phe)
c.101327C>T (p.Ser33776Phe)
n.446+6729G>A
n.220-5367G>A
c.105347C>T (p.Ser35116Phe)
c.79241C>T (p.Ser26414Phe)
c.79100C>T (p.Ser26367Phe)
c.105143C>T (p.Ser35048Phe)
c.100541C>T (p.Ser33514Phe)
c.100538C>T (p.Ser33513Phe)
c.97580C>T (p.Ser32527Phe)
c.79196C>T (p.Ser26399Phe)
c.100691C>T (p.Ser33564Phe)
c.100688C>T (p.Ser33563Phe)
c.100121C>T (p.Ser33374Phe)
c.97463C>T (p.Ser32488Phe)
c.97382C>T (p.Ser32461Phe)
c.79145C>T (p.Ser26382Phe)
c.68999C>T (p.Ser23000Phe)
 dbSNP gnomAD v4
2g.178530365G>CCA349406411TTN,TTN-AS1c.98546C>G (p.Ser32849Cys)
c.79631C>G (p.Ser26544Cys)
c.79430C>G (p.Ser26477Cys)
c.79055C>G (p.Ser26352Cys)
c.106250C>G (p.Ser35417Cys)
c.101327C>G (p.Ser33776Cys)
n.446+6729G>C
n.220-5367G>C
c.105347C>G (p.Ser35116Cys)
c.79241C>G (p.Ser26414Cys)
c.79100C>G (p.Ser26367Cys)
c.105143C>G (p.Ser35048Cys)
c.100541C>G (p.Ser33514Cys)
c.100538C>G (p.Ser33513Cys)
c.97580C>G (p.Ser32527Cys)
c.79196C>G (p.Ser26399Cys)
c.100691C>G (p.Ser33564Cys)
c.100688C>G (p.Ser33563Cys)
c.100121C>G (p.Ser33374Cys)
c.97463C>G (p.Ser32488Cys)
c.97382C>G (p.Ser32461Cys)
c.79145C>G (p.Ser26382Cys)
c.68999C>G (p.Ser23000Cys)
2g.178530365G>TCA349406412TTN,TTN-AS1c.98546C>A (p.Ser32849Tyr)
c.79631C>A (p.Ser26544Tyr)
c.79430C>A (p.Ser26477Tyr)
c.79055C>A (p.Ser26352Tyr)
c.106250C>A (p.Ser35417Tyr)
c.101327C>A (p.Ser33776Tyr)
n.446+6729G>T
n.220-5367G>T
c.105347C>A (p.Ser35116Tyr)
c.79241C>A (p.Ser26414Tyr)
c.79100C>A (p.Ser26367Tyr)
c.105143C>A (p.Ser35048Tyr)
c.100541C>A (p.Ser33514Tyr)
c.100538C>A (p.Ser33513Tyr)
c.97580C>A (p.Ser32527Tyr)
c.79196C>A (p.Ser26399Tyr)
c.100691C>A (p.Ser33564Tyr)
c.100688C>A (p.Ser33563Tyr)
c.100121C>A (p.Ser33374Tyr)
c.97463C>A (p.Ser32488Tyr)
c.97382C>A (p.Ser32461Tyr)
c.79145C>A (p.Ser26382Tyr)
c.68999C>A (p.Ser23000Tyr)
2g.178530366A>CCA349406413TTN,TTN-AS1c.98545T>G (p.Ser32849Ala)
c.79630T>G (p.Ser26544Ala)
c.79429T>G (p.Ser26477Ala)
c.79054T>G (p.Ser26352Ala)
c.106249T>G (p.Ser35417Ala)
c.101326T>G (p.Ser33776Ala)
n.446+6730A>C
n.220-5366A>C
c.105346T>G (p.Ser35116Ala)
c.79240T>G (p.Ser26414Ala)
c.79099T>G (p.Ser26367Ala)
c.105142T>G (p.Ser35048Ala)
c.100540T>G (p.Ser33514Ala)
c.100537T>G (p.Ser33513Ala)
c.97579T>G (p.Ser32527Ala)
c.79195T>G (p.Ser26399Ala)
c.100690T>G (p.Ser33564Ala)
c.100687T>G (p.Ser33563Ala)
c.100120T>G (p.Ser33374Ala)
c.97462T>G (p.Ser32488Ala)
c.97381T>G (p.Ser32461Ala)
c.79144T>G (p.Ser26382Ala)
c.68998T>G (p.Ser23000Ala)
2g.178530366A>GCA349406414TTN,TTN-AS1c.98545T>C (p.Ser32849Pro)
c.79630T>C (p.Ser26544Pro)
c.79429T>C (p.Ser26477Pro)
c.79054T>C (p.Ser26352Pro)
c.106249T>C (p.Ser35417Pro)
c.101326T>C (p.Ser33776Pro)
n.446+6730A>G
n.220-5366A>G
c.105346T>C (p.Ser35116Pro)
c.79240T>C (p.Ser26414Pro)
c.79099T>C (p.Ser26367Pro)
c.105142T>C (p.Ser35048Pro)
c.100540T>C (p.Ser33514Pro)
c.100537T>C (p.Ser33513Pro)
c.97579T>C (p.Ser32527Pro)
c.79195T>C (p.Ser26399Pro)
c.100690T>C (p.Ser33564Pro)
c.100687T>C (p.Ser33563Pro)
c.100120T>C (p.Ser33374Pro)
c.97462T>C (p.Ser32488Pro)
c.97381T>C (p.Ser32461Pro)
c.79144T>C (p.Ser26382Pro)
c.68998T>C (p.Ser23000Pro)
2g.178530366A>TCA349406415TTN,TTN-AS1c.98545T>A (p.Ser32849Thr)
c.79630T>A (p.Ser26544Thr)
c.79429T>A (p.Ser26477Thr)
c.79054T>A (p.Ser26352Thr)
c.106249T>A (p.Ser35417Thr)
c.101326T>A (p.Ser33776Thr)
n.446+6730A>T
n.220-5366A>T
c.105346T>A (p.Ser35116Thr)
c.79240T>A (p.Ser26414Thr)
c.79099T>A (p.Ser26367Thr)
c.105142T>A (p.Ser35048Thr)
c.100540T>A (p.Ser33514Thr)
c.100537T>A (p.Ser33513Thr)
c.97579T>A (p.Ser32527Thr)
c.79195T>A (p.Ser26399Thr)
c.100690T>A (p.Ser33564Thr)
c.100687T>A (p.Ser33563Thr)
c.100120T>A (p.Ser33374Thr)
c.97462T>A (p.Ser32488Thr)
c.97381T>A (p.Ser32461Thr)
c.79144T>A (p.Ser26382Thr)
c.68998T>A (p.Ser23000Thr)
2g.178530367A>CCA349406417TTN,TTN-AS1c.98544T>G (p.Ile32848Met)
c.79629T>G (p.Ile26543Met)
c.79428T>G (p.Ile26476Met)
c.79053T>G (p.Ile26351Met)
c.106248T>G (p.Ile35416Met)
c.101325T>G (p.Ile33775Met)
n.446+6731A>C
n.220-5365A>C
c.105345T>G (p.Ile35115Met)
c.79239T>G (p.Ile26413Met)
c.79098T>G (p.Ile26366Met)
c.105141T>G (p.Ile35047Met)
c.100539T>G (p.Ile33513Met)
c.100536T>G (p.Ile33512Met)
c.97578T>G (p.Ile32526Met)
c.79194T>G (p.Ile26398Met)
c.100689T>G (p.Ile33563Met)
c.100686T>G (p.Ile33562Met)
c.100119T>G (p.Ile33373Met)
c.97461T>G (p.Ile32487Met)
c.97380T>G (p.Ile32460Met)
c.79143T>G (p.Ile26381Met)
c.68997T>G (p.Ile22999Met)
 gnomAD v4
2g.178530367A>GCA430235232TTN,TTN-AS1c.98544T>C (p.Ile32848=)
c.79629T>C (p.Ile26543=)
c.79428T>C (p.Ile26476=)
c.79053T>C (p.Ile26351=)
c.106248T>C (p.Ile35416=)
c.101325T>C (p.Ile33775=)
n.446+6731A>G
n.220-5365A>G
c.105345T>C (p.Ile35115=)
c.79239T>C (p.Ile26413=)
c.79098T>C (p.Ile26366=)
c.105141T>C (p.Ile35047=)
c.100539T>C (p.Ile33513=)
c.100536T>C (p.Ile33512=)
c.97578T>C (p.Ile32526=)
c.79194T>C (p.Ile26398=)
c.100689T>C (p.Ile33563=)
c.100686T>C (p.Ile33562=)
c.100119T>C (p.Ile33373=)
c.97461T>C (p.Ile32487=)
c.97380T>C (p.Ile32460=)
c.79143T>C (p.Ile26381=)
c.68997T>C (p.Ile22999=)
2g.178530367A>TCA430235231TTN,TTN-AS1c.98544T>A (p.Ile32848=)
c.79629T>A (p.Ile26543=)
c.79428T>A (p.Ile26476=)
c.79053T>A (p.Ile26351=)
c.106248T>A (p.Ile35416=)
c.101325T>A (p.Ile33775=)
n.446+6731A>T
n.220-5365A>T
c.105345T>A (p.Ile35115=)
c.79239T>A (p.Ile26413=)
c.79098T>A (p.Ile26366=)
c.105141T>A (p.Ile35047=)
c.100539T>A (p.Ile33513=)
c.100536T>A (p.Ile33512=)
c.97578T>A (p.Ile32526=)
c.79194T>A (p.Ile26398=)
c.100689T>A (p.Ile33563=)
c.100686T>A (p.Ile33562=)
c.100119T>A (p.Ile33373=)
c.97461T>A (p.Ile32487=)
c.97380T>A (p.Ile32460=)
c.79143T>A (p.Ile26381=)
c.68997T>A (p.Ile22999=)
2g.178530368A=CA1310514557TTN,TTN-AS1c.98543T= (p.Ile32848=)
c.79628T= (p.Ile26543=)
c.79427T= (p.Ile26476=)
c.79052T= (p.Ile26351=)
c.106247T= (p.Ile35416=)
c.101324T= (p.Ile33775=)
n.446+6732A=
n.220-5364A=
c.105344T= (p.Ile35115=)
c.79238T= (p.Ile26413=)
c.79097T= (p.Ile26366=)
c.105140T= (p.Ile35047=)
c.100538T= (p.Ile33513=)
c.100535T= (p.Ile33512=)
c.97577T= (p.Ile32526=)
c.79193T= (p.Ile26398=)
c.100688T= (p.Ile33563=)
c.100685T= (p.Ile33562=)
c.100118T= (p.Ile33373=)
c.97460T= (p.Ile32487=)
c.97379T= (p.Ile32460=)
c.79142T= (p.Ile26381=)
c.68996T= (p.Ile22999=)
2g.178530368A>CCA349406433TTN,TTN-AS1c.98543T>G (p.Ile32848Ser)
c.79628T>G (p.Ile26543Ser)
c.79427T>G (p.Ile26476Ser)
c.79052T>G (p.Ile26351Ser)
c.106247T>G (p.Ile35416Ser)
c.101324T>G (p.Ile33775Ser)
n.446+6732A>C
n.220-5364A>C
c.105344T>G (p.Ile35115Ser)
c.79238T>G (p.Ile26413Ser)
c.79097T>G (p.Ile26366Ser)
c.105140T>G (p.Ile35047Ser)
c.100538T>G (p.Ile33513Ser)
c.100535T>G (p.Ile33512Ser)
c.97577T>G (p.Ile32526Ser)
c.79193T>G (p.Ile26398Ser)
c.100688T>G (p.Ile33563Ser)
c.100685T>G (p.Ile33562Ser)
c.100118T>G (p.Ile33373Ser)
c.97460T>G (p.Ile32487Ser)
c.97379T>G (p.Ile32460Ser)
c.79142T>G (p.Ile26381Ser)
c.68996T>G (p.Ile22999Ser)
 gnomAD v4
2g.178530368A>GCA349406431TTN,TTN-AS1c.98543T>C (p.Ile32848Thr)
c.79628T>C (p.Ile26543Thr)
c.79427T>C (p.Ile26476Thr)
c.79052T>C (p.Ile26351Thr)
c.106247T>C (p.Ile35416Thr)
c.101324T>C (p.Ile33775Thr)
n.446+6732A>G
n.220-5364A>G
c.105344T>C (p.Ile35115Thr)
c.79238T>C (p.Ile26413Thr)
c.79097T>C (p.Ile26366Thr)
c.105140T>C (p.Ile35047Thr)
c.100538T>C (p.Ile33513Thr)
c.100535T>C (p.Ile33512Thr)
c.97577T>C (p.Ile32526Thr)
c.79193T>C (p.Ile26398Thr)
c.100688T>C (p.Ile33563Thr)
c.100685T>C (p.Ile33562Thr)
c.100118T>C (p.Ile33373Thr)
c.97460T>C (p.Ile32487Thr)
c.97379T>C (p.Ile32460Thr)
c.79142T>C (p.Ile26381Thr)
c.68996T>C (p.Ile22999Thr)
 dbSNP
2g.178530368A>TCA349406419TTN,TTN-AS1c.98543T>A (p.Ile32848Asn)
c.79628T>A (p.Ile26543Asn)
c.79427T>A (p.Ile26476Asn)
c.79052T>A (p.Ile26351Asn)
c.106247T>A (p.Ile35416Asn)
c.101324T>A (p.Ile33775Asn)
n.446+6732A>T
n.220-5364A>T
c.105344T>A (p.Ile35115Asn)
c.79238T>A (p.Ile26413Asn)
c.79097T>A (p.Ile26366Asn)
c.105140T>A (p.Ile35047Asn)
c.100538T>A (p.Ile33513Asn)
c.100535T>A (p.Ile33512Asn)
c.97577T>A (p.Ile32526Asn)
c.79193T>A (p.Ile26398Asn)
c.100688T>A (p.Ile33563Asn)
c.100685T>A (p.Ile33562Asn)
c.100118T>A (p.Ile33373Asn)
c.97460T>A (p.Ile32487Asn)
c.97379T>A (p.Ile32460Asn)
c.79142T>A (p.Ile26381Asn)
c.68996T>A (p.Ile22999Asn)
2g.178530368_178530383delinsATTGGTTCAGGAGCTTCA1310514558TTN,TTN-AS1c.98528_98543delinsAAGCTCCTGAACCAAT (p.Lys32843=)
c.79613_79628delinsAAGCTCCTGAACCAAT (p.Lys26538=)
c.79412_79427delinsAAGCTCCTGAACCAAT (p.Lys26471=)
c.79037_79052delinsAAGCTCCTGAACCAAT (p.Lys26346=)
c.106232_106247delinsAAGCTCCTGAACCAAT (p.Lys35411=)
c.101309_101324delinsAAGCTCCTGAACCAAT (p.Lys33770=)
n.446+6732_446+6747delinsATTGGTTCAGGAGCTT
n.220-5364_220-5349delinsATTGGTTCAGGAGCTT
c.105329_105344delinsAAGCTCCTGAACCAAT (p.Lys35110=)
c.79223_79238delinsAAGCTCCTGAACCAAT (p.Lys26408=)
c.79082_79097delinsAAGCTCCTGAACCAAT (p.Lys26361=)
c.105125_105140delinsAAGCTCCTGAACCAAT (p.Lys35042=)
c.100523_100538delinsAAGCTCCTGAACCAAT (p.Lys33508=)
c.100520_100535delinsAAGCTCCTGAACCAAT (p.Lys33507=)
c.97562_97577delinsAAGCTCCTGAACCAAT (p.Lys32521=)
c.79178_79193delinsAAGCTCCTGAACCAAT (p.Lys26393=)
c.100673_100688delinsAAGCTCCTGAACCAAT (p.Lys33558=)
c.100670_100685delinsAAGCTCCTGAACCAAT (p.Lys33557=)
c.100103_100118delinsAAGCTCCTGAACCAAT (p.Lys33368=)
c.97445_97460delinsAAGCTCCTGAACCAAT (p.Lys32482=)
c.97364_97379delinsAAGCTCCTGAACCAAT (p.Lys32455=)
c.79127_79142delinsAAGCTCCTGAACCAAT (p.Lys26376=)
c.68981_68996delinsAAGCTCCTGAACCAAT (p.Lys22994=)
2g.178530369T>ACA349406437TTN,TTN-AS1c.98542A>T (p.Ile32848Phe)
c.79627A>T (p.Ile26543Phe)
c.79426A>T (p.Ile26476Phe)
c.79051A>T (p.Ile26351Phe)
c.106246A>T (p.Ile35416Phe)
c.101323A>T (p.Ile33775Phe)
n.446+6733T>A
n.220-5363T>A
c.105343A>T (p.Ile35115Phe)
c.79237A>T (p.Ile26413Phe)
c.79096A>T (p.Ile26366Phe)
c.105139A>T (p.Ile35047Phe)
c.100537A>T (p.Ile33513Phe)
c.100534A>T (p.Ile33512Phe)
c.97576A>T (p.Ile32526Phe)
c.79192A>T (p.Ile26398Phe)
c.100687A>T (p.Ile33563Phe)
c.100684A>T (p.Ile33562Phe)
c.100117A>T (p.Ile33373Phe)
c.97459A>T (p.Ile32487Phe)
c.97378A>T (p.Ile32460Phe)
c.79141A>T (p.Ile26381Phe)
c.68995A>T (p.Ile22999Phe)
2g.178530369T>CCA349406438TTN,TTN-AS1c.98542A>G (p.Ile32848Val)
c.79627A>G (p.Ile26543Val)
c.79426A>G (p.Ile26476Val)
c.79051A>G (p.Ile26351Val)
c.106246A>G (p.Ile35416Val)
c.101323A>G (p.Ile33775Val)
n.446+6733T>C
n.220-5363T>C
c.105343A>G (p.Ile35115Val)
c.79237A>G (p.Ile26413Val)
c.79096A>G (p.Ile26366Val)
c.105139A>G (p.Ile35047Val)
c.100537A>G (p.Ile33513Val)
c.100534A>G (p.Ile33512Val)
c.97576A>G (p.Ile32526Val)
c.79192A>G (p.Ile26398Val)
c.100687A>G (p.Ile33563Val)
c.100684A>G (p.Ile33562Val)
c.100117A>G (p.Ile33373Val)
c.97459A>G (p.Ile32487Val)
c.97378A>G (p.Ile32460Val)
c.79141A>G (p.Ile26381Val)
c.68995A>G (p.Ile22999Val)
2g.178530369T>GCA349406439TTN,TTN-AS1c.98542A>C (p.Ile32848Leu)
c.79627A>C (p.Ile26543Leu)
c.79426A>C (p.Ile26476Leu)
c.79051A>C (p.Ile26351Leu)
c.106246A>C (p.Ile35416Leu)
c.101323A>C (p.Ile33775Leu)
n.446+6733T>G
n.220-5363T>G
c.105343A>C (p.Ile35115Leu)
c.79237A>C (p.Ile26413Leu)
c.79096A>C (p.Ile26366Leu)
c.105139A>C (p.Ile35047Leu)
c.100537A>C (p.Ile33513Leu)
c.100534A>C (p.Ile33512Leu)
c.97576A>C (p.Ile32526Leu)
c.79192A>C (p.Ile26398Leu)
c.100687A>C (p.Ile33563Leu)
c.100684A>C (p.Ile33562Leu)
c.100117A>C (p.Ile33373Leu)
c.97459A>C (p.Ile32487Leu)
c.97378A>C (p.Ile32460Leu)
c.79141A>C (p.Ile26381Leu)
c.68995A>C (p.Ile22999Leu)
2g.178530378_178530392delCA538434977TTN,TTN-AS1c.98528_98542del (p.Lys32843_Pro32847del)
c.79613_79627del (p.Lys26538_Pro26542del)
c.79412_79426del (p.Lys26471_Pro26475del)
c.79037_79051del (p.Lys26346_Pro26350del)
c.106232_106246del (p.Lys35411_Pro35415del)
c.101309_101323del (p.Lys33770_Pro33774del)
n.446+6742_446+6756del
n.220-5354_220-5340del
c.105329_105343del (p.Lys35110_Pro35114del)
c.79223_79237del (p.Lys26408_Pro26412del)
c.79082_79096del (p.Lys26361_Pro26365del)
c.105125_105139del (p.Lys35042_Pro35046del)
c.100523_100537del (p.Lys33508_Pro33512del)
c.100520_100534del (p.Lys33507_Pro33511del)
c.97562_97576del (p.Lys32521_Pro32525del)
c.79178_79192del (p.Lys26393_Pro26397del)
c.100673_100687del (p.Lys33558_Pro33562del)
c.100670_100684del (p.Lys33557_Pro33561del)
c.100103_100117del (p.Lys33368_Pro33372del)
c.97445_97459del (p.Lys32482_Pro32486del)
c.97364_97378del (p.Lys32455_Pro32459del)
c.79127_79141del (p.Lys26376_Pro26380del)
c.68981_68995del (p.Lys22994_Pro22998del)
 dbSNP gnomAD v2 gnomAD v4
2g.178530370T>ACA430235239TTN,TTN-AS1c.98541A>T (p.Pro32847=)
c.79626A>T (p.Pro26542=)
c.79425A>T (p.Pro26475=)
c.79050A>T (p.Pro26350=)
c.106245A>T (p.Pro35415=)
c.101322A>T (p.Pro33774=)
n.446+6734T>A
n.220-5362T>A
c.105342A>T (p.Pro35114=)
c.79236A>T (p.Pro26412=)
c.79095A>T (p.Pro26365=)
c.105138A>T (p.Pro35046=)
c.100536A>T (p.Pro33512=)
c.100533A>T (p.Pro33511=)
c.97575A>T (p.Pro32525=)
c.79191A>T (p.Pro26397=)
c.100686A>T (p.Pro33562=)
c.100683A>T (p.Pro33561=)
c.100116A>T (p.Pro33372=)
c.97458A>T (p.Pro32486=)
c.97377A>T (p.Pro32459=)
c.79140A>T (p.Pro26380=)
c.68994A>T (p.Pro22998=)
2g.178530370T>CCA430235236TTN,TTN-AS1c.98541A>G (p.Pro32847=)
c.79626A>G (p.Pro26542=)
c.79425A>G (p.Pro26475=)
c.79050A>G (p.Pro26350=)
c.106245A>G (p.Pro35415=)
c.101322A>G (p.Pro33774=)
n.446+6734T>C
n.220-5362T>C
c.105342A>G (p.Pro35114=)
c.79236A>G (p.Pro26412=)
c.79095A>G (p.Pro26365=)
c.105138A>G (p.Pro35046=)
c.100536A>G (p.Pro33512=)
c.100533A>G (p.Pro33511=)
c.97575A>G (p.Pro32525=)
c.79191A>G (p.Pro26397=)
c.100686A>G (p.Pro33562=)
c.100683A>G (p.Pro33561=)
c.100116A>G (p.Pro33372=)
c.97458A>G (p.Pro32486=)
c.97377A>G (p.Pro32459=)
c.79140A>G (p.Pro26380=)
c.68994A>G (p.Pro22998=)
 gnomAD v4
2g.178530370T>GCA430235237TTN,TTN-AS1c.98541A>C (p.Pro32847=)
c.79626A>C (p.Pro26542=)
c.79425A>C (p.Pro26475=)
c.79050A>C (p.Pro26350=)
c.106245A>C (p.Pro35415=)
c.101322A>C (p.Pro33774=)
n.446+6734T>G
n.220-5362T>G
c.105342A>C (p.Pro35114=)
c.79236A>C (p.Pro26412=)
c.79095A>C (p.Pro26365=)
c.105138A>C (p.Pro35046=)
c.100536A>C (p.Pro33512=)
c.100533A>C (p.Pro33511=)
c.97575A>C (p.Pro32525=)
c.79191A>C (p.Pro26397=)
c.100686A>C (p.Pro33562=)
c.100683A>C (p.Pro33561=)
c.100116A>C (p.Pro33372=)
c.97458A>C (p.Pro32486=)
c.97377A>C (p.Pro32459=)
c.79140A>C (p.Pro26380=)
c.68994A>C (p.Pro22998=)
2g.178530371G>ACA349406440TTN,TTN-AS1c.98540C>T (p.Pro32847Leu)
c.79625C>T (p.Pro26542Leu)
c.79424C>T (p.Pro26475Leu)
c.79049C>T (p.Pro26350Leu)
c.106244C>T (p.Pro35415Leu)
c.101321C>T (p.Pro33774Leu)
n.446+6735G>A
n.220-5361G>A
c.105341C>T (p.Pro35114Leu)
c.79235C>T (p.Pro26412Leu)
c.79094C>T (p.Pro26365Leu)
c.105137C>T (p.Pro35046Leu)
c.100535C>T (p.Pro33512Leu)
c.100532C>T (p.Pro33511Leu)
c.97574C>T (p.Pro32525Leu)
c.79190C>T (p.Pro26397Leu)
c.100685C>T (p.Pro33562Leu)
c.100682C>T (p.Pro33561Leu)
c.100115C>T (p.Pro33372Leu)
c.97457C>T (p.Pro32486Leu)
c.97376C>T (p.Pro32459Leu)
c.79139C>T (p.Pro26380Leu)
c.68993C>T (p.Pro22998Leu)
 gnomAD v4
2g.178530371G>CCA349406443TTN,TTN-AS1c.98540C>G (p.Pro32847Arg)
c.79625C>G (p.Pro26542Arg)
c.79424C>G (p.Pro26475Arg)
c.79049C>G (p.Pro26350Arg)
c.106244C>G (p.Pro35415Arg)
c.101321C>G (p.Pro33774Arg)
n.446+6735G>C
n.220-5361G>C
c.105341C>G (p.Pro35114Arg)
c.79235C>G (p.Pro26412Arg)
c.79094C>G (p.Pro26365Arg)
c.105137C>G (p.Pro35046Arg)
c.100535C>G (p.Pro33512Arg)
c.100532C>G (p.Pro33511Arg)
c.97574C>G (p.Pro32525Arg)
c.79190C>G (p.Pro26397Arg)
c.100685C>G (p.Pro33562Arg)
c.100682C>G (p.Pro33561Arg)
c.100115C>G (p.Pro33372Arg)
c.97457C>G (p.Pro32486Arg)
c.97376C>G (p.Pro32459Arg)
c.79139C>G (p.Pro26380Arg)
c.68993C>G (p.Pro22998Arg)
2g.178530371G>TCA349406445TTN,TTN-AS1c.98540C>A (p.Pro32847Gln)
c.79625C>A (p.Pro26542Gln)
c.79424C>A (p.Pro26475Gln)
c.79049C>A (p.Pro26350Gln)
c.106244C>A (p.Pro35415Gln)
c.101321C>A (p.Pro33774Gln)
n.446+6735G>T
n.220-5361G>T
c.105341C>A (p.Pro35114Gln)
c.79235C>A (p.Pro26412Gln)
c.79094C>A (p.Pro26365Gln)
c.105137C>A (p.Pro35046Gln)
c.100535C>A (p.Pro33512Gln)
c.100532C>A (p.Pro33511Gln)
c.97574C>A (p.Pro32525Gln)
c.79190C>A (p.Pro26397Gln)
c.100685C>A (p.Pro33562Gln)
c.100682C>A (p.Pro33561Gln)
c.100115C>A (p.Pro33372Gln)
c.97457C>A (p.Pro32486Gln)
c.97376C>A (p.Pro32459Gln)
c.79139C>A (p.Pro26380Gln)
c.68993C>A (p.Pro22998Gln)
2g.178530372G>ACA349406448TTN,TTN-AS1c.98539C>T (p.Pro32847Ser)
c.79624C>T (p.Pro26542Ser)
c.79423C>T (p.Pro26475Ser)
c.79048C>T (p.Pro26350Ser)
c.106243C>T (p.Pro35415Ser)
c.101320C>T (p.Pro33774Ser)
n.446+6736G>A
n.220-5360G>A
c.105340C>T (p.Pro35114Ser)
c.79234C>T (p.Pro26412Ser)
c.79093C>T (p.Pro26365Ser)
c.105136C>T (p.Pro35046Ser)
c.100534C>T (p.Pro33512Ser)
c.100531C>T (p.Pro33511Ser)
c.97573C>T (p.Pro32525Ser)
c.79189C>T (p.Pro26397Ser)
c.100684C>T (p.Pro33562Ser)
c.100681C>T (p.Pro33561Ser)
c.100114C>T (p.Pro33372Ser)
c.97456C>T (p.Pro32486Ser)
c.97375C>T (p.Pro32459Ser)
c.79138C>T (p.Pro26380Ser)
c.68992C>T (p.Pro22998Ser)
 dbSNP
2g.178530372G>CCA349406450TTN,TTN-AS1c.98539C>G (p.Pro32847Ala)
c.79624C>G (p.Pro26542Ala)
c.79423C>G (p.Pro26475Ala)
c.79048C>G (p.Pro26350Ala)
c.106243C>G (p.Pro35415Ala)
c.101320C>G (p.Pro33774Ala)
n.446+6736G>C
n.220-5360G>C
c.105340C>G (p.Pro35114Ala)
c.79234C>G (p.Pro26412Ala)
c.79093C>G (p.Pro26365Ala)
c.105136C>G (p.Pro35046Ala)
c.100534C>G (p.Pro33512Ala)
c.100531C>G (p.Pro33511Ala)
c.97573C>G (p.Pro32525Ala)
c.79189C>G (p.Pro26397Ala)
c.100684C>G (p.Pro33562Ala)
c.100681C>G (p.Pro33561Ala)
c.100114C>G (p.Pro33372Ala)
c.97456C>G (p.Pro32486Ala)
c.97375C>G (p.Pro32459Ala)
c.79138C>G (p.Pro26380Ala)
c.68992C>G (p.Pro22998Ala)
2g.178530372G=CA1310514560TTN,TTN-AS1c.98539C= (p.Pro32847=)
c.79624C= (p.Pro26542=)
c.79423C= (p.Pro26475=)
c.79048C= (p.Pro26350=)
c.106243C= (p.Pro35415=)
c.101320C= (p.Pro33774=)
n.446+6736G=
n.220-5360G=
c.105340C= (p.Pro35114=)
c.79234C= (p.Pro26412=)
c.79093C= (p.Pro26365=)
c.105136C= (p.Pro35046=)
c.100534C= (p.Pro33512=)
c.100531C= (p.Pro33511=)
c.97573C= (p.Pro32525=)
c.79189C= (p.Pro26397=)
c.100684C= (p.Pro33562=)
c.100681C= (p.Pro33561=)
c.100114C= (p.Pro33372=)
c.97456C= (p.Pro32486=)
c.97375C= (p.Pro32459=)
c.79138C= (p.Pro26380=)
c.68992C= (p.Pro22998=)
2g.178530372G>TCA349406452TTN,TTN-AS1c.98539C>A (p.Pro32847Thr)
c.79624C>A (p.Pro26542Thr)
c.79423C>A (p.Pro26475Thr)
c.79048C>A (p.Pro26350Thr)
c.106243C>A (p.Pro35415Thr)
c.101320C>A (p.Pro33774Thr)
n.446+6736G>T
n.220-5360G>T
c.105340C>A (p.Pro35114Thr)
c.79234C>A (p.Pro26412Thr)
c.79093C>A (p.Pro26365Thr)
c.105136C>A (p.Pro35046Thr)
c.100534C>A (p.Pro33512Thr)
c.100531C>A (p.Pro33511Thr)
c.97573C>A (p.Pro32525Thr)
c.79189C>A (p.Pro26397Thr)
c.100684C>A (p.Pro33562Thr)
c.100681C>A (p.Pro33561Thr)
c.100114C>A (p.Pro33372Thr)
c.97456C>A (p.Pro32486Thr)
c.97375C>A (p.Pro32459Thr)
c.79138C>A (p.Pro26380Thr)
c.68992C>A (p.Pro22998Thr)
2g.178530373T>ACA349406454TTN,TTN-AS1c.98538A>T (p.Glu32846Asp)
c.79623A>T (p.Glu26541Asp)
c.79422A>T (p.Glu26474Asp)
c.79047A>T (p.Glu26349Asp)
c.106242A>T (p.Glu35414Asp)
c.101319A>T (p.Glu33773Asp)
n.446+6737T>A
n.220-5359T>A
c.105339A>T (p.Glu35113Asp)
c.79233A>T (p.Glu26411Asp)
c.79092A>T (p.Glu26364Asp)
c.105135A>T (p.Glu35045Asp)
c.100533A>T (p.Glu33511Asp)
c.100530A>T (p.Glu33510Asp)
c.97572A>T (p.Glu32524Asp)
c.79188A>T (p.Glu26396Asp)
c.100683A>T (p.Glu33561Asp)
c.100680A>T (p.Glu33560Asp)
c.100113A>T (p.Glu33371Asp)
c.97455A>T (p.Glu32485Asp)
c.97374A>T (p.Glu32458Asp)
c.79137A>T (p.Glu26379Asp)
c.68991A>T (p.Glu22997Asp)
2g.178530373T>CCA430235244TTN,TTN-AS1c.98538A>G (p.Glu32846=)
c.79623A>G (p.Glu26541=)
c.79422A>G (p.Glu26474=)
c.79047A>G (p.Glu26349=)
c.106242A>G (p.Glu35414=)
c.101319A>G (p.Glu33773=)
n.446+6737T>C
n.220-5359T>C
c.105339A>G (p.Glu35113=)
c.79233A>G (p.Glu26411=)
c.79092A>G (p.Glu26364=)
c.105135A>G (p.Glu35045=)
c.100533A>G (p.Glu33511=)
c.100530A>G (p.Glu33510=)
c.97572A>G (p.Glu32524=)
c.79188A>G (p.Glu26396=)
c.100683A>G (p.Glu33561=)
c.100680A>G (p.Glu33560=)
c.100113A>G (p.Glu33371=)
c.97455A>G (p.Glu32485=)
c.97374A>G (p.Glu32458=)
c.79137A>G (p.Glu26379=)
c.68991A>G (p.Glu22997=)
2g.178530373T>GCA349406456TTN,TTN-AS1c.98538A>C (p.Glu32846Asp)
c.79623A>C (p.Glu26541Asp)
c.79422A>C (p.Glu26474Asp)
c.79047A>C (p.Glu26349Asp)
c.106242A>C (p.Glu35414Asp)
c.101319A>C (p.Glu33773Asp)
n.446+6737T>G
n.220-5359T>G
c.105339A>C (p.Glu35113Asp)
c.79233A>C (p.Glu26411Asp)
c.79092A>C (p.Glu26364Asp)
c.105135A>C (p.Glu35045Asp)
c.100533A>C (p.Glu33511Asp)
c.100530A>C (p.Glu33510Asp)
c.97572A>C (p.Glu32524Asp)
c.79188A>C (p.Glu26396Asp)
c.100683A>C (p.Glu33561Asp)
c.100680A>C (p.Glu33560Asp)
c.100113A>C (p.Glu33371Asp)
c.97455A>C (p.Glu32485Asp)
c.97374A>C (p.Glu32458Asp)
c.79137A>C (p.Glu26379Asp)
c.68991A>C (p.Glu22997Asp)
 gnomAD v4
2g.178530374T>ACA349406459TTN,TTN-AS1c.98537A>T (p.Glu32846Val)
c.79622A>T (p.Glu26541Val)
c.79421A>T (p.Glu26474Val)
c.79046A>T (p.Glu26349Val)
c.106241A>T (p.Glu35414Val)
c.101318A>T (p.Glu33773Val)
n.446+6738T>A
n.220-5358T>A
c.105338A>T (p.Glu35113Val)
c.79232A>T (p.Glu26411Val)
c.79091A>T (p.Glu26364Val)
c.105134A>T (p.Glu35045Val)
c.100532A>T (p.Glu33511Val)
c.100529A>T (p.Glu33510Val)
c.97571A>T (p.Glu32524Val)
c.79187A>T (p.Glu26396Val)
c.100682A>T (p.Glu33561Val)
c.100679A>T (p.Glu33560Val)
c.100112A>T (p.Glu33371Val)
c.97454A>T (p.Glu32485Val)
c.97373A>T (p.Glu32458Val)
c.79136A>T (p.Glu26379Val)
c.68990A>T (p.Glu22997Val)
2g.178530374T>CCA349406460TTN,TTN-AS1c.98537A>G (p.Glu32846Gly)
c.79622A>G (p.Glu26541Gly)
c.79421A>G (p.Glu26474Gly)
c.79046A>G (p.Glu26349Gly)
c.106241A>G (p.Glu35414Gly)
c.101318A>G (p.Glu33773Gly)
n.446+6738T>C
n.220-5358T>C
c.105338A>G (p.Glu35113Gly)
c.79232A>G (p.Glu26411Gly)
c.79091A>G (p.Glu26364Gly)
c.105134A>G (p.Glu35045Gly)
c.100532A>G (p.Glu33511Gly)
c.100529A>G (p.Glu33510Gly)
c.97571A>G (p.Glu32524Gly)
c.79187A>G (p.Glu26396Gly)
c.100682A>G (p.Glu33561Gly)
c.100679A>G (p.Glu33560Gly)
c.100112A>G (p.Glu33371Gly)
c.97454A>G (p.Glu32485Gly)
c.97373A>G (p.Glu32458Gly)
c.79136A>G (p.Glu26379Gly)
c.68990A>G (p.Glu22997Gly)
2g.178530374T>GCA349406462TTN,TTN-AS1c.98537A>C (p.Glu32846Ala)
c.79622A>C (p.Glu26541Ala)
c.79421A>C (p.Glu26474Ala)
c.79046A>C (p.Glu26349Ala)
c.106241A>C (p.Glu35414Ala)
c.101318A>C (p.Glu33773Ala)
n.446+6738T>G
n.220-5358T>G
c.105338A>C (p.Glu35113Ala)
c.79232A>C (p.Glu26411Ala)
c.79091A>C (p.Glu26364Ala)
c.105134A>C (p.Glu35045Ala)
c.100532A>C (p.Glu33511Ala)
c.100529A>C (p.Glu33510Ala)
c.97571A>C (p.Glu32524Ala)
c.79187A>C (p.Glu26396Ala)
c.100682A>C (p.Glu33561Ala)
c.100679A>C (p.Glu33560Ala)
c.100112A>C (p.Glu33371Ala)
c.97454A>C (p.Glu32485Ala)
c.97373A>C (p.Glu32458Ala)
c.79136A>C (p.Glu26379Ala)
c.68990A>C (p.Glu22997Ala)
2g.178530375C>ACA349406467TTN,TTN-AS1c.98536G>T (p.Glu32846Ter)
c.79621G>T (p.Glu26541Ter)
c.79420G>T (p.Glu26474Ter)
c.79045G>T (p.Glu26349Ter)
c.106240G>T (p.Glu35414Ter)
c.101317G>T (p.Glu33773Ter)
n.446+6739C>A
n.220-5357C>A
c.105337G>T (p.Glu35113Ter)
c.79231G>T (p.Glu26411Ter)
c.79090G>T (p.Glu26364Ter)
c.105133G>T (p.Glu35045Ter)
c.100531G>T (p.Glu33511Ter)
c.100528G>T (p.Glu33510Ter)
c.97570G>T (p.Glu32524Ter)
c.79186G>T (p.Glu26396Ter)
c.100681G>T (p.Glu33561Ter)
c.100678G>T (p.Glu33560Ter)
c.100111G>T (p.Glu33371Ter)
c.97453G>T (p.Glu32485Ter)
c.97372G>T (p.Glu32458Ter)
c.79135G>T (p.Glu26379Ter)
c.68989G>T (p.Glu22997Ter)
2g.178530375C=CA1310514563TTN,TTN-AS1c.98536G= (p.Glu32846=)
c.79621G= (p.Glu26541=)
c.79420G= (p.Glu26474=)
c.79045G= (p.Glu26349=)
c.106240G= (p.Glu35414=)
c.101317G= (p.Glu33773=)
n.446+6739C=
n.220-5357C=
c.105337G= (p.Glu35113=)
c.79231G= (p.Glu26411=)
c.79090G= (p.Glu26364=)
c.105133G= (p.Glu35045=)
c.100531G= (p.Glu33511=)
c.100528G= (p.Glu33510=)
c.97570G= (p.Glu32524=)
c.79186G= (p.Glu26396=)
c.100681G= (p.Glu33561=)
c.100678G= (p.Glu33560=)
c.100111G= (p.Glu33371=)
c.97453G= (p.Glu32485=)
c.97372G= (p.Glu32458=)
c.79135G= (p.Glu26379=)
c.68989G= (p.Glu22997=)
2g.178530375C>GCA349406469TTN,TTN-AS1c.98536G>C (p.Glu32846Gln)
c.79621G>C (p.Glu26541Gln)
c.79420G>C (p.Glu26474Gln)
c.79045G>C (p.Glu26349Gln)
c.106240G>C (p.Glu35414Gln)
c.101317G>C (p.Glu33773Gln)
n.446+6739C>G
n.220-5357C>G
c.105337G>C (p.Glu35113Gln)
c.79231G>C (p.Glu26411Gln)
c.79090G>C (p.Glu26364Gln)
c.105133G>C (p.Glu35045Gln)
c.100531G>C (p.Glu33511Gln)
c.100528G>C (p.Glu33510Gln)
c.97570G>C (p.Glu32524Gln)
c.79186G>C (p.Glu26396Gln)
c.100681G>C (p.Glu33561Gln)
c.100678G>C (p.Glu33560Gln)
c.100111G>C (p.Glu33371Gln)
c.97453G>C (p.Glu32485Gln)
c.97372G>C (p.Glu32458Gln)
c.79135G>C (p.Glu26379Gln)
c.68989G>C (p.Glu22997Gln)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178530375C>TCA349406465TTN,TTN-AS1c.98536G>A (p.Glu32846Lys)
c.79621G>A (p.Glu26541Lys)
c.79420G>A (p.Glu26474Lys)
c.79045G>A (p.Glu26349Lys)
c.106240G>A (p.Glu35414Lys)
c.101317G>A (p.Glu33773Lys)
n.446+6739C>T
n.220-5357C>T
c.105337G>A (p.Glu35113Lys)
c.79231G>A (p.Glu26411Lys)
c.79090G>A (p.Glu26364Lys)
c.105133G>A (p.Glu35045Lys)
c.100531G>A (p.Glu33511Lys)
c.100528G>A (p.Glu33510Lys)
c.97570G>A (p.Glu32524Lys)
c.79186G>A (p.Glu26396Lys)
c.100681G>A (p.Glu33561Lys)
c.100678G>A (p.Glu33560Lys)
c.100111G>A (p.Glu33371Lys)
c.97453G>A (p.Glu32485Lys)
c.97372G>A (p.Glu32458Lys)
c.79135G>A (p.Glu26379Lys)
c.68989G>A (p.Glu22997Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.178530376A=CA1310514566TTN,TTN-AS1c.98535T= (p.Pro32845=)
c.79620T= (p.Pro26540=)
c.79419T= (p.Pro26473=)
c.79044T= (p.Pro26348=)
c.106239T= (p.Pro35413=)
c.101316T= (p.Pro33772=)
n.446+6740A=
n.220-5356A=
c.105336T= (p.Pro35112=)
c.79230T= (p.Pro26410=)
c.79089T= (p.Pro26363=)
c.105132T= (p.Pro35044=)
c.100530T= (p.Pro33510=)
c.100527T= (p.Pro33509=)
c.97569T= (p.Pro32523=)
c.79185T= (p.Pro26395=)
c.100680T= (p.Pro33560=)
c.100677T= (p.Pro33559=)
c.100110T= (p.Pro33370=)
c.97452T= (p.Pro32484=)
c.97371T= (p.Pro32457=)
c.79134T= (p.Pro26378=)
c.68988T= (p.Pro22996=)
2g.178530376A>CCA430235246TTN,TTN-AS1c.98535T>G (p.Pro32845=)
c.79620T>G (p.Pro26540=)
c.79419T>G (p.Pro26473=)
c.79044T>G (p.Pro26348=)
c.106239T>G (p.Pro35413=)
c.101316T>G (p.Pro33772=)
n.446+6740A>C
n.220-5356A>C
c.105336T>G (p.Pro35112=)
c.79230T>G (p.Pro26410=)
c.79089T>G (p.Pro26363=)
c.105132T>G (p.Pro35044=)
c.100530T>G (p.Pro33510=)
c.100527T>G (p.Pro33509=)
c.97569T>G (p.Pro32523=)
c.79185T>G (p.Pro26395=)
c.100680T>G (p.Pro33560=)
c.100677T>G (p.Pro33559=)
c.100110T>G (p.Pro33370=)
c.97452T>G (p.Pro32484=)
c.97371T>G (p.Pro32457=)
c.79134T>G (p.Pro26378=)
c.68988T>G (p.Pro22996=)
2g.178530376A>GCA430235247TTN,TTN-AS1c.98535T>C (p.Pro32845=)
c.79620T>C (p.Pro26540=)
c.79419T>C (p.Pro26473=)
c.79044T>C (p.Pro26348=)
c.106239T>C (p.Pro35413=)
c.101316T>C (p.Pro33772=)
n.446+6740A>G
n.220-5356A>G
c.105336T>C (p.Pro35112=)
c.79230T>C (p.Pro26410=)
c.79089T>C (p.Pro26363=)
c.105132T>C (p.Pro35044=)
c.100530T>C (p.Pro33510=)
c.100527T>C (p.Pro33509=)
c.97569T>C (p.Pro32523=)
c.79185T>C (p.Pro26395=)
c.100680T>C (p.Pro33560=)
c.100677T>C (p.Pro33559=)
c.100110T>C (p.Pro33370=)
c.97452T>C (p.Pro32484=)
c.97371T>C (p.Pro32457=)
c.79134T>C (p.Pro26378=)
c.68988T>C (p.Pro22996=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530376A>TCA430235248TTN,TTN-AS1c.98535T>A (p.Pro32845=)
c.79620T>A (p.Pro26540=)
c.79419T>A (p.Pro26473=)
c.79044T>A (p.Pro26348=)
c.106239T>A (p.Pro35413=)
c.101316T>A (p.Pro33772=)
n.446+6740A>T
n.220-5356A>T
c.105336T>A (p.Pro35112=)
c.79230T>A (p.Pro26410=)
c.79089T>A (p.Pro26363=)
c.105132T>A (p.Pro35044=)
c.100530T>A (p.Pro33510=)
c.100527T>A (p.Pro33509=)
c.97569T>A (p.Pro32523=)
c.79185T>A (p.Pro26395=)
c.100680T>A (p.Pro33560=)
c.100677T>A (p.Pro33559=)
c.100110T>A (p.Pro33370=)
c.97452T>A (p.Pro32484=)
c.97371T>A (p.Pro32457=)
c.79134T>A (p.Pro26378=)
c.68988T>A (p.Pro22996=)
2g.178530377G>ACA349406472TTN,TTN-AS1c.98534C>T (p.Pro32845Leu)
c.79619C>T (p.Pro26540Leu)
c.79418C>T (p.Pro26473Leu)
c.79043C>T (p.Pro26348Leu)
c.106238C>T (p.Pro35413Leu)
c.101315C>T (p.Pro33772Leu)
n.446+6741G>A
n.220-5355G>A
c.105335C>T (p.Pro35112Leu)
c.79229C>T (p.Pro26410Leu)
c.79088C>T (p.Pro26363Leu)
c.105131C>T (p.Pro35044Leu)
c.100529C>T (p.Pro33510Leu)
c.100526C>T (p.Pro33509Leu)
c.97568C>T (p.Pro32523Leu)
c.79184C>T (p.Pro26395Leu)
c.100679C>T (p.Pro33560Leu)
c.100676C>T (p.Pro33559Leu)
c.100109C>T (p.Pro33370Leu)
c.97451C>T (p.Pro32484Leu)
c.97370C>T (p.Pro32457Leu)
c.79133C>T (p.Pro26378Leu)
c.68987C>T (p.Pro22996Leu)
2g.178530377G>CCA349406474TTN,TTN-AS1c.98534C>G (p.Pro32845Arg)
c.79619C>G (p.Pro26540Arg)
c.79418C>G (p.Pro26473Arg)
c.79043C>G (p.Pro26348Arg)
c.106238C>G (p.Pro35413Arg)
c.101315C>G (p.Pro33772Arg)
n.446+6741G>C
n.220-5355G>C
c.105335C>G (p.Pro35112Arg)
c.79229C>G (p.Pro26410Arg)
c.79088C>G (p.Pro26363Arg)
c.105131C>G (p.Pro35044Arg)
c.100529C>G (p.Pro33510Arg)
c.100526C>G (p.Pro33509Arg)
c.97568C>G (p.Pro32523Arg)
c.79184C>G (p.Pro26395Arg)
c.100679C>G (p.Pro33560Arg)
c.100676C>G (p.Pro33559Arg)
c.100109C>G (p.Pro33370Arg)
c.97451C>G (p.Pro32484Arg)
c.97370C>G (p.Pro32457Arg)
c.79133C>G (p.Pro26378Arg)
c.68987C>G (p.Pro22996Arg)
 ClinVar dbSNP gnomAD v4
2g.178530377G=CA1310514568TTN,TTN-AS1c.98534C= (p.Pro32845=)
c.79619C= (p.Pro26540=)
c.79418C= (p.Pro26473=)
c.79043C= (p.Pro26348=)
c.106238C= (p.Pro35413=)
c.101315C= (p.Pro33772=)
n.446+6741G=
n.220-5355G=
c.105335C= (p.Pro35112=)
c.79229C= (p.Pro26410=)
c.79088C= (p.Pro26363=)
c.105131C= (p.Pro35044=)
c.100529C= (p.Pro33510=)
c.100526C= (p.Pro33509=)
c.97568C= (p.Pro32523=)
c.79184C= (p.Pro26395=)
c.100679C= (p.Pro33560=)
c.100676C= (p.Pro33559=)
c.100109C= (p.Pro33370=)
c.97451C= (p.Pro32484=)
c.97370C= (p.Pro32457=)
c.79133C= (p.Pro26378=)
c.68987C= (p.Pro22996=)
2g.178530377G>TCA349406476TTN,TTN-AS1c.98534C>A (p.Pro32845His)
c.79619C>A (p.Pro26540His)
c.79418C>A (p.Pro26473His)
c.79043C>A (p.Pro26348His)
c.106238C>A (p.Pro35413His)
c.101315C>A (p.Pro33772His)
n.446+6741G>T
n.220-5355G>T
c.105335C>A (p.Pro35112His)
c.79229C>A (p.Pro26410His)
c.79088C>A (p.Pro26363His)
c.105131C>A (p.Pro35044His)
c.100529C>A (p.Pro33510His)
c.100526C>A (p.Pro33509His)
c.97568C>A (p.Pro32523His)
c.79184C>A (p.Pro26395His)
c.100679C>A (p.Pro33560His)
c.100676C>A (p.Pro33559His)
c.100109C>A (p.Pro33370His)
c.97451C>A (p.Pro32484His)
c.97370C>A (p.Pro32457His)
c.79133C>A (p.Pro26378His)
c.68987C>A (p.Pro22996His)
2g.178530378G>ACA349406478TTN,TTN-AS1c.98533C>T (p.Pro32845Ser)
c.79618C>T (p.Pro26540Ser)
c.79417C>T (p.Pro26473Ser)
c.79042C>T (p.Pro26348Ser)
c.106237C>T (p.Pro35413Ser)
c.101314C>T (p.Pro33772Ser)
n.446+6742G>A
n.220-5354G>A
c.105334C>T (p.Pro35112Ser)
c.79228C>T (p.Pro26410Ser)
c.79087C>T (p.Pro26363Ser)
c.105130C>T (p.Pro35044Ser)
c.100528C>T (p.Pro33510Ser)
c.100525C>T (p.Pro33509Ser)
c.97567C>T (p.Pro32523Ser)
c.79183C>T (p.Pro26395Ser)
c.100678C>T (p.Pro33560Ser)
c.100675C>T (p.Pro33559Ser)
c.100108C>T (p.Pro33370Ser)
c.97450C>T (p.Pro32484Ser)
c.97369C>T (p.Pro32457Ser)
c.79132C>T (p.Pro26378Ser)
c.68986C>T (p.Pro22996Ser)
2g.178530378G>CCA349406481TTN,TTN-AS1c.98533C>G (p.Pro32845Ala)
c.79618C>G (p.Pro26540Ala)
c.79417C>G (p.Pro26473Ala)
c.79042C>G (p.Pro26348Ala)
c.106237C>G (p.Pro35413Ala)
c.101314C>G (p.Pro33772Ala)
n.446+6742G>C
n.220-5354G>C
c.105334C>G (p.Pro35112Ala)
c.79228C>G (p.Pro26410Ala)
c.79087C>G (p.Pro26363Ala)
c.105130C>G (p.Pro35044Ala)
c.100528C>G (p.Pro33510Ala)
c.100525C>G (p.Pro33509Ala)
c.97567C>G (p.Pro32523Ala)
c.79183C>G (p.Pro26395Ala)
c.100678C>G (p.Pro33560Ala)
c.100675C>G (p.Pro33559Ala)
c.100108C>G (p.Pro33370Ala)
c.97450C>G (p.Pro32484Ala)
c.97369C>G (p.Pro32457Ala)
c.79132C>G (p.Pro26378Ala)
c.68986C>G (p.Pro22996Ala)
2g.178530378G>TCA349406483TTN,TTN-AS1c.98533C>A (p.Pro32845Thr)
c.79618C>A (p.Pro26540Thr)
c.79417C>A (p.Pro26473Thr)
c.79042C>A (p.Pro26348Thr)
c.106237C>A (p.Pro35413Thr)
c.101314C>A (p.Pro33772Thr)
n.446+6742G>T
n.220-5354G>T
c.105334C>A (p.Pro35112Thr)
c.79228C>A (p.Pro26410Thr)
c.79087C>A (p.Pro26363Thr)
c.105130C>A (p.Pro35044Thr)
c.100528C>A (p.Pro33510Thr)
c.100525C>A (p.Pro33509Thr)
c.97567C>A (p.Pro32523Thr)
c.79183C>A (p.Pro26395Thr)
c.100678C>A (p.Pro33560Thr)
c.100675C>A (p.Pro33559Thr)
c.100108C>A (p.Pro33370Thr)
c.97450C>A (p.Pro32484Thr)
c.97369C>A (p.Pro32457Thr)
c.79132C>A (p.Pro26378Thr)
c.68986C>A (p.Pro22996Thr)
2g.178530379A>CCA430235252TTN,TTN-AS1c.98532T>G (p.Ala32844=)
c.79617T>G (p.Ala26539=)
c.79416T>G (p.Ala26472=)
c.79041T>G (p.Ala26347=)
c.106236T>G (p.Ala35412=)
c.101313T>G (p.Ala33771=)
n.446+6743A>C
n.220-5353A>C
c.105333T>G (p.Ala35111=)
c.79227T>G (p.Ala26409=)
c.79086T>G (p.Ala26362=)
c.105129T>G (p.Ala35043=)
c.100527T>G (p.Ala33509=)
c.100524T>G (p.Ala33508=)
c.97566T>G (p.Ala32522=)
c.79182T>G (p.Ala26394=)
c.100677T>G (p.Ala33559=)
c.100674T>G (p.Ala33558=)
c.100107T>G (p.Ala33369=)
c.97449T>G (p.Ala32483=)
c.97368T>G (p.Ala32456=)
c.79131T>G (p.Ala26377=)
c.68985T>G (p.Ala22995=)
2g.178530379A>GCA430235253TTN,TTN-AS1c.98532T>C (p.Ala32844=)
c.79617T>C (p.Ala26539=)
c.79416T>C (p.Ala26472=)
c.79041T>C (p.Ala26347=)
c.106236T>C (p.Ala35412=)
c.101313T>C (p.Ala33771=)
n.446+6743A>G
n.220-5353A>G
c.105333T>C (p.Ala35111=)
c.79227T>C (p.Ala26409=)
c.79086T>C (p.Ala26362=)
c.105129T>C (p.Ala35043=)
c.100527T>C (p.Ala33509=)
c.100524T>C (p.Ala33508=)
c.97566T>C (p.Ala32522=)
c.79182T>C (p.Ala26394=)
c.100677T>C (p.Ala33559=)
c.100674T>C (p.Ala33558=)
c.100107T>C (p.Ala33369=)
c.97449T>C (p.Ala32483=)
c.97368T>C (p.Ala32456=)
c.79131T>C (p.Ala26377=)
c.68985T>C (p.Ala22995=)
2g.178530379A>TCA430235254TTN,TTN-AS1c.98532T>A (p.Ala32844=)
c.79617T>A (p.Ala26539=)
c.79416T>A (p.Ala26472=)
c.79041T>A (p.Ala26347=)
c.106236T>A (p.Ala35412=)
c.101313T>A (p.Ala33771=)
n.446+6743A>T
n.220-5353A>T
c.105333T>A (p.Ala35111=)
c.79227T>A (p.Ala26409=)
c.79086T>A (p.Ala26362=)
c.105129T>A (p.Ala35043=)
c.100527T>A (p.Ala33509=)
c.100524T>A (p.Ala33508=)
c.97566T>A (p.Ala32522=)
c.79182T>A (p.Ala26394=)
c.100677T>A (p.Ala33559=)
c.100674T>A (p.Ala33558=)
c.100107T>A (p.Ala33369=)
c.97449T>A (p.Ala32483=)
c.97368T>A (p.Ala32456=)
c.79131T>A (p.Ala26377=)
c.68985T>A (p.Ala22995=)
2g.178530380G>ACA349406489TTN,TTN-AS1c.98531C>T (p.Ala32844Val)
c.79616C>T (p.Ala26539Val)
c.79415C>T (p.Ala26472Val)
c.79040C>T (p.Ala26347Val)
c.106235C>T (p.Ala35412Val)
c.101312C>T (p.Ala33771Val)
n.446+6744G>A
n.220-5352G>A
c.105332C>T (p.Ala35111Val)
c.79226C>T (p.Ala26409Val)
c.79085C>T (p.Ala26362Val)
c.105128C>T (p.Ala35043Val)
c.100526C>T (p.Ala33509Val)
c.100523C>T (p.Ala33508Val)
c.97565C>T (p.Ala32522Val)
c.79181C>T (p.Ala26394Val)
c.100676C>T (p.Ala33559Val)
c.100673C>T (p.Ala33558Val)
c.100106C>T (p.Ala33369Val)
c.97448C>T (p.Ala32483Val)
c.97367C>T (p.Ala32456Val)
c.79130C>T (p.Ala26377Val)
c.68984C>T (p.Ala22995Val)
2g.178530380G>CCA349406485TTN,TTN-AS1c.98531C>G (p.Ala32844Gly)
c.79616C>G (p.Ala26539Gly)
c.79415C>G (p.Ala26472Gly)
c.79040C>G (p.Ala26347Gly)
c.106235C>G (p.Ala35412Gly)
c.101312C>G (p.Ala33771Gly)
n.446+6744G>C
n.220-5352G>C
c.105332C>G (p.Ala35111Gly)
c.79226C>G (p.Ala26409Gly)
c.79085C>G (p.Ala26362Gly)
c.105128C>G (p.Ala35043Gly)
c.100526C>G (p.Ala33509Gly)
c.100523C>G (p.Ala33508Gly)
c.97565C>G (p.Ala32522Gly)
c.79181C>G (p.Ala26394Gly)
c.100676C>G (p.Ala33559Gly)
c.100673C>G (p.Ala33558Gly)
c.100106C>G (p.Ala33369Gly)
c.97448C>G (p.Ala32483Gly)
c.97367C>G (p.Ala32456Gly)
c.79130C>G (p.Ala26377Gly)
c.68984C>G (p.Ala22995Gly)
2g.178530380G>TCA349406487TTN,TTN-AS1c.98531C>A (p.Ala32844Asp)
c.79616C>A (p.Ala26539Asp)
c.79415C>A (p.Ala26472Asp)
c.79040C>A (p.Ala26347Asp)
c.106235C>A (p.Ala35412Asp)
c.101312C>A (p.Ala33771Asp)
n.446+6744G>T
n.220-5352G>T
c.105332C>A (p.Ala35111Asp)
c.79226C>A (p.Ala26409Asp)
c.79085C>A (p.Ala26362Asp)
c.105128C>A (p.Ala35043Asp)
c.100526C>A (p.Ala33509Asp)
c.100523C>A (p.Ala33508Asp)
c.97565C>A (p.Ala32522Asp)
c.79181C>A (p.Ala26394Asp)
c.100676C>A (p.Ala33559Asp)
c.100673C>A (p.Ala33558Asp)
c.100106C>A (p.Ala33369Asp)
c.97448C>A (p.Ala32483Asp)
c.97367C>A (p.Ala32456Asp)
c.79130C>A (p.Ala26377Asp)
c.68984C>A (p.Ala22995Asp)
2g.178530381C>ACA349406491TTN,TTN-AS1c.98530G>T (p.Ala32844Ser)
c.79615G>T (p.Ala26539Ser)
c.79414G>T (p.Ala26472Ser)
c.79039G>T (p.Ala26347Ser)
c.106234G>T (p.Ala35412Ser)
c.101311G>T (p.Ala33771Ser)
n.446+6745C>A
n.220-5351C>A
c.105331G>T (p.Ala35111Ser)
c.79225G>T (p.Ala26409Ser)
c.79084G>T (p.Ala26362Ser)
c.105127G>T (p.Ala35043Ser)
c.100525G>T (p.Ala33509Ser)
c.100522G>T (p.Ala33508Ser)
c.97564G>T (p.Ala32522Ser)
c.79180G>T (p.Ala26394Ser)
c.100675G>T (p.Ala33559Ser)
c.100672G>T (p.Ala33558Ser)
c.100105G>T (p.Ala33369Ser)
c.97447G>T (p.Ala32483Ser)
c.97366G>T (p.Ala32456Ser)
c.79129G>T (p.Ala26377Ser)
c.68983G>T (p.Ala22995Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.178530381C=CA1310514570TTN,TTN-AS1c.98530G= (p.Ala32844=)
c.79615G= (p.Ala26539=)
c.79414G= (p.Ala26472=)
c.79039G= (p.Ala26347=)
c.106234G= (p.Ala35412=)
c.101311G= (p.Ala33771=)
n.446+6745C=
n.220-5351C=
c.105331G= (p.Ala35111=)
c.79225G= (p.Ala26409=)
c.79084G= (p.Ala26362=)
c.105127G= (p.Ala35043=)
c.100525G= (p.Ala33509=)
c.100522G= (p.Ala33508=)
c.97564G= (p.Ala32522=)
c.79180G= (p.Ala26394=)
c.100675G= (p.Ala33559=)
c.100672G= (p.Ala33558=)
c.100105G= (p.Ala33369=)
c.97447G= (p.Ala32483=)
c.97366G= (p.Ala32456=)
c.79129G= (p.Ala26377=)
c.68983G= (p.Ala22995=)
2g.178530381C>GCA1985142TTN,TTN-AS1c.98530G>C (p.Ala32844Pro)
c.79615G>C (p.Ala26539Pro)
c.79414G>C (p.Ala26472Pro)
c.79039G>C (p.Ala26347Pro)
c.106234G>C (p.Ala35412Pro)
c.101311G>C (p.Ala33771Pro)
n.446+6745C>G
n.220-5351C>G
c.105331G>C (p.Ala35111Pro)
c.79225G>C (p.Ala26409Pro)
c.79084G>C (p.Ala26362Pro)
c.105127G>C (p.Ala35043Pro)
c.100525G>C (p.Ala33509Pro)
c.100522G>C (p.Ala33508Pro)
c.97564G>C (p.Ala32522Pro)
c.79180G>C (p.Ala26394Pro)
c.100675G>C (p.Ala33559Pro)
c.100672G>C (p.Ala33558Pro)
c.100105G>C (p.Ala33369Pro)
c.97447G>C (p.Ala32483Pro)
c.97366G>C (p.Ala32456Pro)
c.79129G>C (p.Ala26377Pro)
c.68983G>C (p.Ala22995Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530381C>TCA349406494TTN,TTN-AS1c.98530G>A (p.Ala32844Thr)
c.79615G>A (p.Ala26539Thr)
c.79414G>A (p.Ala26472Thr)
c.79039G>A (p.Ala26347Thr)
c.106234G>A (p.Ala35412Thr)
c.101311G>A (p.Ala33771Thr)
n.446+6745C>T
n.220-5351C>T
c.105331G>A (p.Ala35111Thr)
c.79225G>A (p.Ala26409Thr)
c.79084G>A (p.Ala26362Thr)
c.105127G>A (p.Ala35043Thr)
c.100525G>A (p.Ala33509Thr)
c.100522G>A (p.Ala33508Thr)
c.97564G>A (p.Ala32522Thr)
c.79180G>A (p.Ala26394Thr)
c.100675G>A (p.Ala33559Thr)
c.100672G>A (p.Ala33558Thr)
c.100105G>A (p.Ala33369Thr)
c.97447G>A (p.Ala32483Thr)
c.97366G>A (p.Ala32456Thr)
c.79129G>A (p.Ala26377Thr)
c.68983G>A (p.Ala22995Thr)
2g.178530382T>ACA349406495TTN,TTN-AS1c.98529A>T (p.Lys32843Asn)
c.79614A>T (p.Lys26538Asn)
c.79413A>T (p.Lys26471Asn)
c.79038A>T (p.Lys26346Asn)
c.106233A>T (p.Lys35411Asn)
c.101310A>T (p.Lys33770Asn)
n.446+6746T>A
n.220-5350T>A
c.105330A>T (p.Lys35110Asn)
c.79224A>T (p.Lys26408Asn)
c.79083A>T (p.Lys26361Asn)
c.105126A>T (p.Lys35042Asn)
c.100524A>T (p.Lys33508Asn)
c.100521A>T (p.Lys33507Asn)
c.97563A>T (p.Lys32521Asn)
c.79179A>T (p.Lys26393Asn)
c.100674A>T (p.Lys33558Asn)
c.100671A>T (p.Lys33557Asn)
c.100104A>T (p.Lys33368Asn)
c.97446A>T (p.Lys32482Asn)
c.97365A>T (p.Lys32455Asn)
c.79128A>T (p.Lys26376Asn)
c.68982A>T (p.Lys22994Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.178530382T>CCA430235257TTN,TTN-AS1c.98529A>G (p.Lys32843=)
c.79614A>G (p.Lys26538=)
c.79413A>G (p.Lys26471=)
c.79038A>G (p.Lys26346=)
c.106233A>G (p.Lys35411=)
c.101310A>G (p.Lys33770=)
n.446+6746T>C
n.220-5350T>C
c.105330A>G (p.Lys35110=)
c.79224A>G (p.Lys26408=)
c.79083A>G (p.Lys26361=)
c.105126A>G (p.Lys35042=)
c.100524A>G (p.Lys33508=)
c.100521A>G (p.Lys33507=)
c.97563A>G (p.Lys32521=)
c.79179A>G (p.Lys26393=)
c.100674A>G (p.Lys33558=)
c.100671A>G (p.Lys33557=)
c.100104A>G (p.Lys33368=)
c.97446A>G (p.Lys32482=)
c.97365A>G (p.Lys32455=)
c.79128A>G (p.Lys26376=)
c.68982A>G (p.Lys22994=)
 ClinVar dbSNP
2g.178530382T>GCA349406497TTN,TTN-AS1c.98529A>C (p.Lys32843Asn)
c.79614A>C (p.Lys26538Asn)
c.79413A>C (p.Lys26471Asn)
c.79038A>C (p.Lys26346Asn)
c.106233A>C (p.Lys35411Asn)
c.101310A>C (p.Lys33770Asn)
n.446+6746T>G
n.220-5350T>G
c.105330A>C (p.Lys35110Asn)
c.79224A>C (p.Lys26408Asn)
c.79083A>C (p.Lys26361Asn)
c.105126A>C (p.Lys35042Asn)
c.100524A>C (p.Lys33508Asn)
c.100521A>C (p.Lys33507Asn)
c.97563A>C (p.Lys32521Asn)
c.79179A>C (p.Lys26393Asn)
c.100674A>C (p.Lys33558Asn)
c.100671A>C (p.Lys33557Asn)
c.100104A>C (p.Lys33368Asn)
c.97446A>C (p.Lys32482Asn)
c.97365A>C (p.Lys32455Asn)
c.79128A>C (p.Lys26376Asn)
c.68982A>C (p.Lys22994Asn)
2g.178530382T=CA1310514572TTN,TTN-AS1c.98529A= (p.Lys32843=)
c.79614A= (p.Lys26538=)
c.79413A= (p.Lys26471=)
c.79038A= (p.Lys26346=)
c.106233A= (p.Lys35411=)
c.101310A= (p.Lys33770=)
n.446+6746T=
n.220-5350T=
c.105330A= (p.Lys35110=)
c.79224A= (p.Lys26408=)
c.79083A= (p.Lys26361=)
c.105126A= (p.Lys35042=)
c.100524A= (p.Lys33508=)
c.100521A= (p.Lys33507=)
c.97563A= (p.Lys32521=)
c.79179A= (p.Lys26393=)
c.100674A= (p.Lys33558=)
c.100671A= (p.Lys33557=)
c.100104A= (p.Lys33368=)
c.97446A= (p.Lys32482=)
c.97365A= (p.Lys32455=)
c.79128A= (p.Lys26376=)
c.68982A= (p.Lys22994=)
2g.178530385delCA2586970735TTN,TTN-AS1c.98529del (p.Ala32844LeufsTer10)
c.79614del (p.Ala26539LeufsTer10)
c.79413del (p.Ala26472LeufsTer10)
c.79038del (p.Ala26347LeufsTer10)
c.106233del (p.Ala35412LeufsTer10)
c.101310del (p.Ala33771LeufsTer10)
n.446+6749del
n.220-5347del
c.105330del (p.Ala35111LeufsTer10)
c.79224del (p.Ala26409LeufsTer10)
c.79083del (p.Ala26362LeufsTer10)
c.105126del (p.Ala35043LeufsTer10)
c.100524del (p.Ala33509LeufsTer10)
c.100521del (p.Ala33508LeufsTer10)
c.97563del (p.Ala32522LeufsTer10)
c.79179del (p.Ala26394LeufsTer10)
c.100674del (p.Ala33559LeufsTer10)
c.100671del (p.Ala33558LeufsTer10)
c.100104del (p.Ala33369LeufsTer10)
c.97446del (p.Ala32483LeufsTer10)
c.97365del (p.Ala32456LeufsTer10)
c.79128del (p.Ala26377LeufsTer10)
c.68982del (p.Ala22995LeufsTer10)
 gnomAD v4
2g.178530383T>ACA349406499TTN,TTN-AS1c.98528A>T (p.Lys32843Ile)
c.79613A>T (p.Lys26538Ile)
c.79412A>T (p.Lys26471Ile)
c.79037A>T (p.Lys26346Ile)
c.106232A>T (p.Lys35411Ile)
c.101309A>T (p.Lys33770Ile)
n.446+6747T>A
n.220-5349T>A
c.105329A>T (p.Lys35110Ile)
c.79223A>T (p.Lys26408Ile)
c.79082A>T (p.Lys26361Ile)
c.105125A>T (p.Lys35042Ile)
c.100523A>T (p.Lys33508Ile)
c.100520A>T (p.Lys33507Ile)
c.97562A>T (p.Lys32521Ile)
c.79178A>T (p.Lys26393Ile)
c.100673A>T (p.Lys33558Ile)
c.100670A>T (p.Lys33557Ile)
c.100103A>T (p.Lys33368Ile)
c.97445A>T (p.Lys32482Ile)
c.97364A>T (p.Lys32455Ile)
c.79127A>T (p.Lys26376Ile)
c.68981A>T (p.Lys22994Ile)
2g.178530383T>CCA349406503TTN,TTN-AS1c.98528A>G (p.Lys32843Arg)
c.79613A>G (p.Lys26538Arg)
c.79412A>G (p.Lys26471Arg)
c.79037A>G (p.Lys26346Arg)
c.106232A>G (p.Lys35411Arg)
c.101309A>G (p.Lys33770Arg)
n.446+6747T>C
n.220-5349T>C
c.105329A>G (p.Lys35110Arg)
c.79223A>G (p.Lys26408Arg)
c.79082A>G (p.Lys26361Arg)
c.105125A>G (p.Lys35042Arg)
c.100523A>G (p.Lys33508Arg)
c.100520A>G (p.Lys33507Arg)
c.97562A>G (p.Lys32521Arg)
c.79178A>G (p.Lys26393Arg)
c.100673A>G (p.Lys33558Arg)
c.100670A>G (p.Lys33557Arg)
c.100103A>G (p.Lys33368Arg)
c.97445A>G (p.Lys32482Arg)
c.97364A>G (p.Lys32455Arg)
c.79127A>G (p.Lys26376Arg)
c.68981A>G (p.Lys22994Arg)
2g.178530383T>GCA349406501TTN,TTN-AS1c.98528A>C (p.Lys32843Thr)
c.79613A>C (p.Lys26538Thr)
c.79412A>C (p.Lys26471Thr)
c.79037A>C (p.Lys26346Thr)
c.106232A>C (p.Lys35411Thr)
c.101309A>C (p.Lys33770Thr)
n.446+6747T>G
n.220-5349T>G
c.105329A>C (p.Lys35110Thr)
c.79223A>C (p.Lys26408Thr)
c.79082A>C (p.Lys26361Thr)
c.105125A>C (p.Lys35042Thr)
c.100523A>C (p.Lys33508Thr)
c.100520A>C (p.Lys33507Thr)
c.97562A>C (p.Lys32521Thr)
c.79178A>C (p.Lys26393Thr)
c.100673A>C (p.Lys33558Thr)
c.100670A>C (p.Lys33557Thr)
c.100103A>C (p.Lys33368Thr)
c.97445A>C (p.Lys32482Thr)
c.97364A>C (p.Lys32455Thr)
c.79127A>C (p.Lys26376Thr)
c.68981A>C (p.Lys22994Thr)
2g.178530384T>ACA349406506TTN,TTN-AS1c.98527A>T (p.Lys32843Ter)
c.79612A>T (p.Lys26538Ter)
c.79411A>T (p.Lys26471Ter)
c.79036A>T (p.Lys26346Ter)
c.106231A>T (p.Lys35411Ter)
c.101308A>T (p.Lys33770Ter)
n.446+6748T>A
n.220-5348T>A
c.105328A>T (p.Lys35110Ter)
c.79222A>T (p.Lys26408Ter)
c.79081A>T (p.Lys26361Ter)
c.105124A>T (p.Lys35042Ter)
c.100522A>T (p.Lys33508Ter)
c.100519A>T (p.Lys33507Ter)
c.97561A>T (p.Lys32521Ter)
c.79177A>T (p.Lys26393Ter)
c.100672A>T (p.Lys33558Ter)
c.100669A>T (p.Lys33557Ter)
c.100102A>T (p.Lys33368Ter)
c.97444A>T (p.Lys32482Ter)
c.97363A>T (p.Lys32455Ter)
c.79126A>T (p.Lys26376Ter)
c.68980A>T (p.Lys22994Ter)
2g.178530384T>CCA349406508TTN,TTN-AS1c.98527A>G (p.Lys32843Glu)
c.79612A>G (p.Lys26538Glu)
c.79411A>G (p.Lys26471Glu)
c.79036A>G (p.Lys26346Glu)
c.106231A>G (p.Lys35411Glu)
c.101308A>G (p.Lys33770Glu)
n.446+6748T>C
n.220-5348T>C
c.105328A>G (p.Lys35110Glu)
c.79222A>G (p.Lys26408Glu)
c.79081A>G (p.Lys26361Glu)
c.105124A>G (p.Lys35042Glu)
c.100522A>G (p.Lys33508Glu)
c.100519A>G (p.Lys33507Glu)
c.97561A>G (p.Lys32521Glu)
c.79177A>G (p.Lys26393Glu)
c.100672A>G (p.Lys33558Glu)
c.100669A>G (p.Lys33557Glu)
c.100102A>G (p.Lys33368Glu)
c.97444A>G (p.Lys32482Glu)
c.97363A>G (p.Lys32455Glu)
c.79126A>G (p.Lys26376Glu)
c.68980A>G (p.Lys22994Glu)
2g.178530384T>GCA349406511TTN,TTN-AS1c.98527A>C (p.Lys32843Gln)
c.79612A>C (p.Lys26538Gln)
c.79411A>C (p.Lys26471Gln)
c.79036A>C (p.Lys26346Gln)
c.106231A>C (p.Lys35411Gln)
c.101308A>C (p.Lys33770Gln)
n.446+6748T>G
n.220-5348T>G
c.105328A>C (p.Lys35110Gln)
c.79222A>C (p.Lys26408Gln)
c.79081A>C (p.Lys26361Gln)
c.105124A>C (p.Lys35042Gln)
c.100522A>C (p.Lys33508Gln)
c.100519A>C (p.Lys33507Gln)
c.97561A>C (p.Lys32521Gln)
c.79177A>C (p.Lys26393Gln)
c.100672A>C (p.Lys33558Gln)
c.100669A>C (p.Lys33557Gln)
c.100102A>C (p.Lys33368Gln)
c.97444A>C (p.Lys32482Gln)
c.97363A>C (p.Lys32455Gln)
c.79126A>C (p.Lys26376Gln)
c.68980A>C (p.Lys22994Gln)
2g.178530385T>ACA430235259TTN,TTN-AS1c.98526A>T (p.Pro32842=)
c.79611A>T (p.Pro26537=)
c.79410A>T (p.Pro26470=)
c.79035A>T (p.Pro26345=)
c.106230A>T (p.Pro35410=)
c.101307A>T (p.Pro33769=)
n.446+6749T>A
n.220-5347T>A
c.105327A>T (p.Pro35109=)
c.79221A>T (p.Pro26407=)
c.79080A>T (p.Pro26360=)
c.105123A>T (p.Pro35041=)
c.100521A>T (p.Pro33507=)
c.100518A>T (p.Pro33506=)
c.97560A>T (p.Pro32520=)
c.79176A>T (p.Pro26392=)
c.100671A>T (p.Pro33557=)
c.100668A>T (p.Pro33556=)
c.100101A>T (p.Pro33367=)
c.97443A>T (p.Pro32481=)
c.97362A>T (p.Pro32454=)
c.79125A>T (p.Pro26375=)
c.68979A>T (p.Pro22993=)
2g.178530385T>CCA430235260TTN,TTN-AS1c.98526A>G (p.Pro32842=)
c.79611A>G (p.Pro26537=)
c.79410A>G (p.Pro26470=)
c.79035A>G (p.Pro26345=)
c.106230A>G (p.Pro35410=)
c.101307A>G (p.Pro33769=)
n.446+6749T>C
n.220-5347T>C
c.105327A>G (p.Pro35109=)
c.79221A>G (p.Pro26407=)
c.79080A>G (p.Pro26360=)
c.105123A>G (p.Pro35041=)
c.100521A>G (p.Pro33507=)
c.100518A>G (p.Pro33506=)
c.97560A>G (p.Pro32520=)
c.79176A>G (p.Pro26392=)
c.100671A>G (p.Pro33557=)
c.100668A>G (p.Pro33556=)
c.100101A>G (p.Pro33367=)
c.97443A>G (p.Pro32481=)
c.97362A>G (p.Pro32454=)
c.79125A>G (p.Pro26375=)
c.68979A>G (p.Pro22993=)
 dbSNP gnomAD v2 gnomAD v4
2g.178530385T>GCA430235261TTN,TTN-AS1c.98526A>C (p.Pro32842=)
c.79611A>C (p.Pro26537=)
c.79410A>C (p.Pro26470=)
c.79035A>C (p.Pro26345=)
c.106230A>C (p.Pro35410=)
c.101307A>C (p.Pro33769=)
n.446+6749T>G
n.220-5347T>G
c.105327A>C (p.Pro35109=)
c.79221A>C (p.Pro26407=)
c.79080A>C (p.Pro26360=)
c.105123A>C (p.Pro35041=)
c.100521A>C (p.Pro33507=)
c.100518A>C (p.Pro33506=)
c.97560A>C (p.Pro32520=)
c.79176A>C (p.Pro26392=)
c.100671A>C (p.Pro33557=)
c.100668A>C (p.Pro33556=)
c.100101A>C (p.Pro33367=)
c.97443A>C (p.Pro32481=)
c.97362A>C (p.Pro32454=)
c.79125A>C (p.Pro26375=)
c.68979A>C (p.Pro22993=)
 ClinVar
2g.178530385T=CA1310514573TTN,TTN-AS1c.98526A= (p.Pro32842=)
c.79611A= (p.Pro26537=)
c.79410A= (p.Pro26470=)
c.79035A= (p.Pro26345=)
c.106230A= (p.Pro35410=)
c.101307A= (p.Pro33769=)
n.446+6749T=
n.220-5347T=
c.105327A= (p.Pro35109=)
c.79221A= (p.Pro26407=)
c.79080A= (p.Pro26360=)
c.105123A= (p.Pro35041=)
c.100521A= (p.Pro33507=)
c.100518A= (p.Pro33506=)
c.97560A= (p.Pro32520=)
c.79176A= (p.Pro26392=)
c.100671A= (p.Pro33557=)
c.100668A= (p.Pro33556=)
c.100101A= (p.Pro33367=)
c.97443A= (p.Pro32481=)
c.97362A= (p.Pro32454=)
c.79125A= (p.Pro26375=)
c.68979A= (p.Pro22993=)
2g.178530386G>ACA349406513TTN,TTN-AS1c.98525C>T (p.Pro32842Leu)
c.79610C>T (p.Pro26537Leu)
c.79409C>T (p.Pro26470Leu)
c.79034C>T (p.Pro26345Leu)
c.106229C>T (p.Pro35410Leu)
c.101306C>T (p.Pro33769Leu)
n.446+6750G>A
n.220-5346G>A
c.105326C>T (p.Pro35109Leu)
c.79220C>T (p.Pro26407Leu)
c.79079C>T (p.Pro26360Leu)
c.105122C>T (p.Pro35041Leu)
c.100520C>T (p.Pro33507Leu)
c.100517C>T (p.Pro33506Leu)
c.97559C>T (p.Pro32520Leu)
c.79175C>T (p.Pro26392Leu)
c.100670C>T (p.Pro33557Leu)
c.100667C>T (p.Pro33556Leu)
c.100100C>T (p.Pro33367Leu)
c.97442C>T (p.Pro32481Leu)
c.97361C>T (p.Pro32454Leu)
c.79124C>T (p.Pro26375Leu)
c.68978C>T (p.Pro22993Leu)
2g.178530386G>CCA349406515TTN,TTN-AS1c.98525C>G (p.Pro32842Arg)
c.79610C>G (p.Pro26537Arg)
c.79409C>G (p.Pro26470Arg)
c.79034C>G (p.Pro26345Arg)
c.106229C>G (p.Pro35410Arg)
c.101306C>G (p.Pro33769Arg)
n.446+6750G>C
n.220-5346G>C
c.105326C>G (p.Pro35109Arg)
c.79220C>G (p.Pro26407Arg)
c.79079C>G (p.Pro26360Arg)
c.105122C>G (p.Pro35041Arg)
c.100520C>G (p.Pro33507Arg)
c.100517C>G (p.Pro33506Arg)
c.97559C>G (p.Pro32520Arg)
c.79175C>G (p.Pro26392Arg)
c.100670C>G (p.Pro33557Arg)
c.100667C>G (p.Pro33556Arg)
c.100100C>G (p.Pro33367Arg)
c.97442C>G (p.Pro32481Arg)
c.97361C>G (p.Pro32454Arg)
c.79124C>G (p.Pro26375Arg)
c.68978C>G (p.Pro22993Arg)
 ClinVar dbSNP
2g.178530386G=CA1310514575TTN,TTN-AS1c.98525C= (p.Pro32842=)
c.79610C= (p.Pro26537=)
c.79409C= (p.Pro26470=)
c.79034C= (p.Pro26345=)
c.106229C= (p.Pro35410=)
c.101306C= (p.Pro33769=)
n.446+6750G=
n.220-5346G=
c.105326C= (p.Pro35109=)
c.79220C= (p.Pro26407=)
c.79079C= (p.Pro26360=)
c.105122C= (p.Pro35041=)
c.100520C= (p.Pro33507=)
c.100517C= (p.Pro33506=)
c.97559C= (p.Pro32520=)
c.79175C= (p.Pro26392=)
c.100670C= (p.Pro33557=)
c.100667C= (p.Pro33556=)
c.100100C= (p.Pro33367=)
c.97442C= (p.Pro32481=)
c.97361C= (p.Pro32454=)
c.79124C= (p.Pro26375=)
c.68978C= (p.Pro22993=)
2g.178530386G>TCA349406517TTN,TTN-AS1c.98525C>A (p.Pro32842Gln)
c.79610C>A (p.Pro26537Gln)
c.79409C>A (p.Pro26470Gln)
c.79034C>A (p.Pro26345Gln)
c.106229C>A (p.Pro35410Gln)
c.101306C>A (p.Pro33769Gln)
n.446+6750G>T
n.220-5346G>T
c.105326C>A (p.Pro35109Gln)
c.79220C>A (p.Pro26407Gln)
c.79079C>A (p.Pro26360Gln)
c.105122C>A (p.Pro35041Gln)
c.100520C>A (p.Pro33507Gln)
c.100517C>A (p.Pro33506Gln)
c.97559C>A (p.Pro32520Gln)
c.79175C>A (p.Pro26392Gln)
c.100670C>A (p.Pro33557Gln)
c.100667C>A (p.Pro33556Gln)
c.100100C>A (p.Pro33367Gln)
c.97442C>A (p.Pro32481Gln)
c.97361C>A (p.Pro32454Gln)
c.79124C>A (p.Pro26375Gln)
c.68978C>A (p.Pro22993Gln)
2g.178530387G>ACA349406519TTN,TTN-AS1c.98524C>T (p.Pro32842Ser)
c.79609C>T (p.Pro26537Ser)
c.79408C>T (p.Pro26470Ser)
c.79033C>T (p.Pro26345Ser)
c.106228C>T (p.Pro35410Ser)
c.101305C>T (p.Pro33769Ser)
n.446+6751G>A
n.220-5345G>A
c.105325C>T (p.Pro35109Ser)
c.79219C>T (p.Pro26407Ser)
c.79078C>T (p.Pro26360Ser)
c.105121C>T (p.Pro35041Ser)
c.100519C>T (p.Pro33507Ser)
c.100516C>T (p.Pro33506Ser)
c.97558C>T (p.Pro32520Ser)
c.79174C>T (p.Pro26392Ser)
c.100669C>T (p.Pro33557Ser)
c.100666C>T (p.Pro33556Ser)
c.100099C>T (p.Pro33367Ser)
c.97441C>T (p.Pro32481Ser)
c.97360C>T (p.Pro32454Ser)
c.79123C>T (p.Pro26375Ser)
c.68977C>T (p.Pro22993Ser)
 gnomAD v4
2g.178530387G>CCA349406520TTN,TTN-AS1c.98524C>G (p.Pro32842Ala)
c.79609C>G (p.Pro26537Ala)
c.79408C>G (p.Pro26470Ala)
c.79033C>G (p.Pro26345Ala)
c.106228C>G (p.Pro35410Ala)
c.101305C>G (p.Pro33769Ala)
n.446+6751G>C
n.220-5345G>C
c.105325C>G (p.Pro35109Ala)
c.79219C>G (p.Pro26407Ala)
c.79078C>G (p.Pro26360Ala)
c.105121C>G (p.Pro35041Ala)
c.100519C>G (p.Pro33507Ala)
c.100516C>G (p.Pro33506Ala)
c.97558C>G (p.Pro32520Ala)
c.79174C>G (p.Pro26392Ala)
c.100669C>G (p.Pro33557Ala)
c.100666C>G (p.Pro33556Ala)
c.100099C>G (p.Pro33367Ala)
c.97441C>G (p.Pro32481Ala)
c.97360C>G (p.Pro32454Ala)
c.79123C>G (p.Pro26375Ala)
c.68977C>G (p.Pro22993Ala)
2g.178530387G>TCA349406522TTN,TTN-AS1c.98524C>A (p.Pro32842Thr)
c.79609C>A (p.Pro26537Thr)
c.79408C>A (p.Pro26470Thr)
c.79033C>A (p.Pro26345Thr)
c.106228C>A (p.Pro35410Thr)
c.101305C>A (p.Pro33769Thr)
n.446+6751G>T
n.220-5345G>T
c.105325C>A (p.Pro35109Thr)
c.79219C>A (p.Pro26407Thr)
c.79078C>A (p.Pro26360Thr)
c.105121C>A (p.Pro35041Thr)
c.100519C>A (p.Pro33507Thr)
c.100516C>A (p.Pro33506Thr)
c.97558C>A (p.Pro32520Thr)
c.79174C>A (p.Pro26392Thr)
c.100669C>A (p.Pro33557Thr)
c.100666C>A (p.Pro33556Thr)
c.100099C>A (p.Pro33367Thr)
c.97441C>A (p.Pro32481Thr)
c.97360C>A (p.Pro32454Thr)
c.79123C>A (p.Pro26375Thr)
c.68977C>A (p.Pro22993Thr)
2g.178530388T>ACA349406524TTN,TTN-AS1c.98523A>T (p.Glu32841Asp)
c.79608A>T (p.Glu26536Asp)
c.79407A>T (p.Glu26469Asp)
c.79032A>T (p.Glu26344Asp)
c.106227A>T (p.Glu35409Asp)
c.101304A>T (p.Glu33768Asp)
n.446+6752T>A
n.220-5344T>A
c.105324A>T (p.Glu35108Asp)
c.79218A>T (p.Glu26406Asp)
c.79077A>T (p.Glu26359Asp)
c.105120A>T (p.Glu35040Asp)
c.100518A>T (p.Glu33506Asp)
c.100515A>T (p.Glu33505Asp)
c.97557A>T (p.Glu32519Asp)
c.79173A>T (p.Glu26391Asp)
c.100668A>T (p.Glu33556Asp)
c.100665A>T (p.Glu33555Asp)
c.100098A>T (p.Glu33366Asp)
c.97440A>T (p.Glu32480Asp)
c.97359A>T (p.Glu32453Asp)
c.79122A>T (p.Glu26374Asp)
c.68976A>T (p.Glu22992Asp)
2g.178530388T>CCA430235263TTN,TTN-AS1c.98523A>G (p.Glu32841=)
c.79608A>G (p.Glu26536=)
c.79407A>G (p.Glu26469=)
c.79032A>G (p.Glu26344=)
c.106227A>G (p.Glu35409=)
c.101304A>G (p.Glu33768=)
n.446+6752T>C
n.220-5344T>C
c.105324A>G (p.Glu35108=)
c.79218A>G (p.Glu26406=)
c.79077A>G (p.Glu26359=)
c.105120A>G (p.Glu35040=)
c.100518A>G (p.Glu33506=)
c.100515A>G (p.Glu33505=)
c.97557A>G (p.Glu32519=)
c.79173A>G (p.Glu26391=)
c.100668A>G (p.Glu33556=)
c.100665A>G (p.Glu33555=)
c.100098A>G (p.Glu33366=)
c.97440A>G (p.Glu32480=)
c.97359A>G (p.Glu32453=)
c.79122A>G (p.Glu26374=)
c.68976A>G (p.Glu22992=)
 COSMIC COSMIC COSMIC COSMIC
2g.178530388T>GCA349406526TTN,TTN-AS1c.98523A>C (p.Glu32841Asp)
c.79608A>C (p.Glu26536Asp)
c.79407A>C (p.Glu26469Asp)
c.79032A>C (p.Glu26344Asp)
c.106227A>C (p.Glu35409Asp)
c.101304A>C (p.Glu33768Asp)
n.446+6752T>G
n.220-5344T>G
c.105324A>C (p.Glu35108Asp)
c.79218A>C (p.Glu26406Asp)
c.79077A>C (p.Glu26359Asp)
c.105120A>C (p.Glu35040Asp)
c.100518A>C (p.Glu33506Asp)
c.100515A>C (p.Glu33505Asp)
c.97557A>C (p.Glu32519Asp)
c.79173A>C (p.Glu26391Asp)
c.100668A>C (p.Glu33556Asp)
c.100665A>C (p.Glu33555Asp)
c.100098A>C (p.Glu33366Asp)
c.97440A>C (p.Glu32480Asp)
c.97359A>C (p.Glu32453Asp)
c.79122A>C (p.Glu26374Asp)
c.68976A>C (p.Glu22992Asp)
2g.178530389T>ACA349406533TTN,TTN-AS1c.98522A>T (p.Glu32841Val)
c.79607A>T (p.Glu26536Val)
c.79406A>T (p.Glu26469Val)
c.79031A>T (p.Glu26344Val)
c.106226A>T (p.Glu35409Val)
c.101303A>T (p.Glu33768Val)
n.446+6753T>A
n.220-5343T>A
c.105323A>T (p.Glu35108Val)
c.79217A>T (p.Glu26406Val)
c.79076A>T (p.Glu26359Val)
c.105119A>T (p.Glu35040Val)
c.100517A>T (p.Glu33506Val)
c.100514A>T (p.Glu33505Val)
c.97556A>T (p.Glu32519Val)
c.79172A>T (p.Glu26391Val)
c.100667A>T (p.Glu33556Val)
c.100664A>T (p.Glu33555Val)
c.100097A>T (p.Glu33366Val)
c.97439A>T (p.Glu32480Val)
c.97358A>T (p.Glu32453Val)
c.79121A>T (p.Glu26374Val)
c.68975A>T (p.Glu22992Val)
2g.178530389T>CCA349406531TTN,TTN-AS1c.98522A>G (p.Glu32841Gly)
c.79607A>G (p.Glu26536Gly)
c.79406A>G (p.Glu26469Gly)
c.79031A>G (p.Glu26344Gly)
c.106226A>G (p.Glu35409Gly)
c.101303A>G (p.Glu33768Gly)
n.446+6753T>C
n.220-5343T>C
c.105323A>G (p.Glu35108Gly)
c.79217A>G (p.Glu26406Gly)
c.79076A>G (p.Glu26359Gly)
c.105119A>G (p.Glu35040Gly)
c.100517A>G (p.Glu33506Gly)
c.100514A>G (p.Glu33505Gly)
c.97556A>G (p.Glu32519Gly)
c.79172A>G (p.Glu26391Gly)
c.100667A>G (p.Glu33556Gly)
c.100664A>G (p.Glu33555Gly)
c.100097A>G (p.Glu33366Gly)
c.97439A>G (p.Glu32480Gly)
c.97358A>G (p.Glu32453Gly)
c.79121A>G (p.Glu26374Gly)
c.68975A>G (p.Glu22992Gly)
2g.178530389T>GCA349406529TTN,TTN-AS1c.98522A>C (p.Glu32841Ala)
c.79607A>C (p.Glu26536Ala)
c.79406A>C (p.Glu26469Ala)
c.79031A>C (p.Glu26344Ala)
c.106226A>C (p.Glu35409Ala)
c.101303A>C (p.Glu33768Ala)
n.446+6753T>G
n.220-5343T>G
c.105323A>C (p.Glu35108Ala)
c.79217A>C (p.Glu26406Ala)
c.79076A>C (p.Glu26359Ala)
c.105119A>C (p.Glu35040Ala)
c.100517A>C (p.Glu33506Ala)
c.100514A>C (p.Glu33505Ala)
c.97556A>C (p.Glu32519Ala)
c.79172A>C (p.Glu26391Ala)
c.100667A>C (p.Glu33556Ala)
c.100664A>C (p.Glu33555Ala)
c.100097A>C (p.Glu33366Ala)
c.97439A>C (p.Glu32480Ala)
c.97358A>C (p.Glu32453Ala)
c.79121A>C (p.Glu26374Ala)
c.68975A>C (p.Glu22992Ala)
2g.178530390C>ACA349406535TTN,TTN-AS1c.98521G>T (p.Glu32841Ter)
c.79606G>T (p.Glu26536Ter)
c.79405G>T (p.Glu26469Ter)
c.79030G>T (p.Glu26344Ter)
c.106225G>T (p.Glu35409Ter)
c.101302G>T (p.Glu33768Ter)
n.446+6754C>A
n.220-5342C>A
c.105322G>T (p.Glu35108Ter)
c.79216G>T (p.Glu26406Ter)
c.79075G>T (p.Glu26359Ter)
c.105118G>T (p.Glu35040Ter)
c.100516G>T (p.Glu33506Ter)
c.100513G>T (p.Glu33505Ter)
c.97555G>T (p.Glu32519Ter)
c.79171G>T (p.Glu26391Ter)
c.100666G>T (p.Glu33556Ter)
c.100663G>T (p.Glu33555Ter)
c.100096G>T (p.Glu33366Ter)
c.97438G>T (p.Glu32480Ter)
c.97357G>T (p.Glu32453Ter)
c.79120G>T (p.Glu26374Ter)
c.68974G>T (p.Glu22992Ter)
2g.178530390C=CA1310514577TTN,TTN-AS1c.98521G= (p.Glu32841=)
c.79606G= (p.Glu26536=)
c.79405G= (p.Glu26469=)
c.79030G= (p.Glu26344=)
c.106225G= (p.Glu35409=)
c.101302G= (p.Glu33768=)
n.446+6754C=
n.220-5342C=
c.105322G= (p.Glu35108=)
c.79216G= (p.Glu26406=)
c.79075G= (p.Glu26359=)
c.105118G= (p.Glu35040=)
c.100516G= (p.Glu33506=)
c.100513G= (p.Glu33505=)
c.97555G= (p.Glu32519=)
c.79171G= (p.Glu26391=)
c.100666G= (p.Glu33556=)
c.100663G= (p.Glu33555=)
c.100096G= (p.Glu33366=)
c.97438G= (p.Glu32480=)
c.97357G= (p.Glu32453=)
c.79120G= (p.Glu26374=)
c.68974G= (p.Glu22992=)
2g.178530390C>GCA349406540TTN,TTN-AS1c.98521G>C (p.Glu32841Gln)
c.79606G>C (p.Glu26536Gln)
c.79405G>C (p.Glu26469Gln)
c.79030G>C (p.Glu26344Gln)
c.106225G>C (p.Glu35409Gln)
c.101302G>C (p.Glu33768Gln)
n.446+6754C>G
n.220-5342C>G
c.105322G>C (p.Glu35108Gln)
c.79216G>C (p.Glu26406Gln)
c.79075G>C (p.Glu26359Gln)
c.105118G>C (p.Glu35040Gln)
c.100516G>C (p.Glu33506Gln)
c.100513G>C (p.Glu33505Gln)
c.97555G>C (p.Glu32519Gln)
c.79171G>C (p.Glu26391Gln)
c.100666G>C (p.Glu33556Gln)
c.100663G>C (p.Glu33555Gln)
c.100096G>C (p.Glu33366Gln)
c.97438G>C (p.Glu32480Gln)
c.97357G>C (p.Glu32453Gln)
c.79120G>C (p.Glu26374Gln)
c.68974G>C (p.Glu22992Gln)
2g.178530390C>TCA349406537TTN,TTN-AS1c.98521G>A (p.Glu32841Lys)
c.79606G>A (p.Glu26536Lys)
c.79405G>A (p.Glu26469Lys)
c.79030G>A (p.Glu26344Lys)
c.106225G>A (p.Glu35409Lys)
c.101302G>A (p.Glu33768Lys)
n.446+6754C>T
n.220-5342C>T
c.105322G>A (p.Glu35108Lys)
c.79216G>A (p.Glu26406Lys)
c.79075G>A (p.Glu26359Lys)
c.105118G>A (p.Glu35040Lys)
c.100516G>A (p.Glu33506Lys)
c.100513G>A (p.Glu33505Lys)
c.97555G>A (p.Glu32519Lys)
c.79171G>A (p.Glu26391Lys)
c.100666G>A (p.Glu33556Lys)
c.100663G>A (p.Glu33555Lys)
c.100096G>A (p.Glu33366Lys)
c.97438G>A (p.Glu32480Lys)
c.97357G>A (p.Glu32453Lys)
c.79120G>A (p.Glu26374Lys)
c.68974G>A (p.Glu22992Lys)
 dbSNP
2g.178530391A>CCA430235267TTN,TTN-AS1c.98520T>G (p.Thr32840=)
c.79605T>G (p.Thr26535=)
c.79404T>G (p.Thr26468=)
c.79029T>G (p.Thr26343=)
c.106224T>G (p.Thr35408=)
c.101301T>G (p.Thr33767=)
n.446+6755A>C
n.220-5341A>C
c.105321T>G (p.Thr35107=)
c.79215T>G (p.Thr26405=)
c.79074T>G (p.Thr26358=)
c.105117T>G (p.Thr35039=)
c.100515T>G (p.Thr33505=)
c.100512T>G (p.Thr33504=)
c.97554T>G (p.Thr32518=)
c.79170T>G (p.Thr26390=)
c.100665T>G (p.Thr33555=)
c.100662T>G (p.Thr33554=)
c.100095T>G (p.Thr33365=)
c.97437T>G (p.Thr32479=)
c.97356T>G (p.Thr32452=)
c.79119T>G (p.Thr26373=)
c.68973T>G (p.Thr22991=)
2g.178530391A>GCA430235271TTN,TTN-AS1c.98520T>C (p.Thr32840=)
c.79605T>C (p.Thr26535=)
c.79404T>C (p.Thr26468=)
c.79029T>C (p.Thr26343=)
c.106224T>C (p.Thr35408=)
c.101301T>C (p.Thr33767=)
n.446+6755A>G
n.220-5341A>G
c.105321T>C (p.Thr35107=)
c.79215T>C (p.Thr26405=)
c.79074T>C (p.Thr26358=)
c.105117T>C (p.Thr35039=)
c.100515T>C (p.Thr33505=)
c.100512T>C (p.Thr33504=)
c.97554T>C (p.Thr32518=)
c.79170T>C (p.Thr26390=)
c.100665T>C (p.Thr33555=)
c.100662T>C (p.Thr33554=)
c.100095T>C (p.Thr33365=)
c.97437T>C (p.Thr32479=)
c.97356T>C (p.Thr32452=)
c.79119T>C (p.Thr26373=)
c.68973T>C (p.Thr22991=)
2g.178530391A>TCA430235269TTN,TTN-AS1c.98520T>A (p.Thr32840=)
c.79605T>A (p.Thr26535=)
c.79404T>A (p.Thr26468=)
c.79029T>A (p.Thr26343=)
c.106224T>A (p.Thr35408=)
c.101301T>A (p.Thr33767=)
n.446+6755A>T
n.220-5341A>T
c.105321T>A (p.Thr35107=)
c.79215T>A (p.Thr26405=)
c.79074T>A (p.Thr26358=)
c.105117T>A (p.Thr35039=)
c.100515T>A (p.Thr33505=)
c.100512T>A (p.Thr33504=)
c.97554T>A (p.Thr32518=)
c.79170T>A (p.Thr26390=)
c.100665T>A (p.Thr33555=)
c.100662T>A (p.Thr33554=)
c.100095T>A (p.Thr33365=)
c.97437T>A (p.Thr32479=)
c.97356T>A (p.Thr32452=)
c.79119T>A (p.Thr26373=)
c.68973T>A (p.Thr22991=)
2g.178530392G>ACA349406542TTN,TTN-AS1c.98519C>T (p.Thr32840Ile)
c.79604C>T (p.Thr26535Ile)
c.79403C>T (p.Thr26468Ile)
c.79028C>T (p.Thr26343Ile)
c.106223C>T (p.Thr35408Ile)
c.101300C>T (p.Thr33767Ile)
n.446+6756G>A
n.220-5340G>A
c.105320C>T (p.Thr35107Ile)
c.79214C>T (p.Thr26405Ile)
c.79073C>T (p.Thr26358Ile)
c.105116C>T (p.Thr35039Ile)
c.100514C>T (p.Thr33505Ile)
c.100511C>T (p.Thr33504Ile)
c.97553C>T (p.Thr32518Ile)
c.79169C>T (p.Thr26390Ile)
c.100664C>T (p.Thr33555Ile)
c.100661C>T (p.Thr33554Ile)
c.100094C>T (p.Thr33365Ile)
c.97436C>T (p.Thr32479Ile)
c.97355C>T (p.Thr32452Ile)
c.79118C>T (p.Thr26373Ile)
c.68972C>T (p.Thr22991Ile)
 gnomAD v4
2g.178530392G>CCA349406545TTN,TTN-AS1c.98519C>G (p.Thr32840Ser)
c.79604C>G (p.Thr26535Ser)
c.79403C>G (p.Thr26468Ser)
c.79028C>G (p.Thr26343Ser)
c.106223C>G (p.Thr35408Ser)
c.101300C>G (p.Thr33767Ser)
n.446+6756G>C
n.220-5340G>C
c.105320C>G (p.Thr35107Ser)
c.79214C>G (p.Thr26405Ser)
c.79073C>G (p.Thr26358Ser)
c.105116C>G (p.Thr35039Ser)
c.100514C>G (p.Thr33505Ser)
c.100511C>G (p.Thr33504Ser)
c.97553C>G (p.Thr32518Ser)
c.79169C>G (p.Thr26390Ser)
c.100664C>G (p.Thr33555Ser)
c.100661C>G (p.Thr33554Ser)
c.100094C>G (p.Thr33365Ser)
c.97436C>G (p.Thr32479Ser)
c.97355C>G (p.Thr32452Ser)
c.79118C>G (p.Thr26373Ser)
c.68972C>G (p.Thr22991Ser)
2g.178530392G=CA1310514580TTN,TTN-AS1c.98519C= (p.Thr32840=)
c.79604C= (p.Thr26535=)
c.79403C= (p.Thr26468=)
c.79028C= (p.Thr26343=)
c.106223C= (p.Thr35408=)
c.101300C= (p.Thr33767=)
n.446+6756G=
n.220-5340G=
c.105320C= (p.Thr35107=)
c.79214C= (p.Thr26405=)
c.79073C= (p.Thr26358=)
c.105116C= (p.Thr35039=)
c.100514C= (p.Thr33505=)
c.100511C= (p.Thr33504=)
c.97553C= (p.Thr32518=)
c.79169C= (p.Thr26390=)
c.100664C= (p.Thr33555=)
c.100661C= (p.Thr33554=)
c.100094C= (p.Thr33365=)
c.97436C= (p.Thr32479=)
c.97355C= (p.Thr32452=)
c.79118C= (p.Thr26373=)
c.68972C= (p.Thr22991=)
2g.178530392G>TCA349406544TTN,TTN-AS1c.98519C>A (p.Thr32840Asn)
c.79604C>A (p.Thr26535Asn)
c.79403C>A (p.Thr26468Asn)
c.79028C>A (p.Thr26343Asn)
c.106223C>A (p.Thr35408Asn)
c.101300C>A (p.Thr33767Asn)
n.446+6756G>T
n.220-5340G>T
c.105320C>A (p.Thr35107Asn)
c.79214C>A (p.Thr26405Asn)
c.79073C>A (p.Thr26358Asn)
c.105116C>A (p.Thr35039Asn)
c.100514C>A (p.Thr33505Asn)
c.100511C>A (p.Thr33504Asn)
c.97553C>A (p.Thr32518Asn)
c.79169C>A (p.Thr26390Asn)
c.100664C>A (p.Thr33555Asn)
c.100661C>A (p.Thr33554Asn)
c.100094C>A (p.Thr33365Asn)
c.97436C>A (p.Thr32479Asn)
c.97355C>A (p.Thr32452Asn)
c.79118C>A (p.Thr26373Asn)
c.68972C>A (p.Thr22991Asn)
 ClinVar dbSNP
2g.178530393T>ACA349406546TTN,TTN-AS1c.98518A>T (p.Thr32840Ser)
c.79603A>T (p.Thr26535Ser)
c.79402A>T (p.Thr26468Ser)
c.79027A>T (p.Thr26343Ser)
c.106222A>T (p.Thr35408Ser)
c.101299A>T (p.Thr33767Ser)
n.446+6757T>A
n.220-5339T>A
c.105319A>T (p.Thr35107Ser)
c.79213A>T (p.Thr26405Ser)
c.79072A>T (p.Thr26358Ser)
c.105115A>T (p.Thr35039Ser)
c.100513A>T (p.Thr33505Ser)
c.100510A>T (p.Thr33504Ser)
c.97552A>T (p.Thr32518Ser)
c.79168A>T (p.Thr26390Ser)
c.100663A>T (p.Thr33555Ser)
c.100660A>T (p.Thr33554Ser)
c.100093A>T (p.Thr33365Ser)
c.97435A>T (p.Thr32479Ser)
c.97354A>T (p.Thr32452Ser)
c.79117A>T (p.Thr26373Ser)
c.68971A>T (p.Thr22991Ser)
2g.178530393T>CCA349406547TTN,TTN-AS1c.98518A>G (p.Thr32840Ala)
c.79603A>G (p.Thr26535Ala)
c.79402A>G (p.Thr26468Ala)
c.79027A>G (p.Thr26343Ala)
c.106222A>G (p.Thr35408Ala)
c.101299A>G (p.Thr33767Ala)
n.446+6757T>C
n.220-5339T>C
c.105319A>G (p.Thr35107Ala)
c.79213A>G (p.Thr26405Ala)
c.79072A>G (p.Thr26358Ala)
c.105115A>G (p.Thr35039Ala)
c.100513A>G (p.Thr33505Ala)
c.100510A>G (p.Thr33504Ala)
c.97552A>G (p.Thr32518Ala)
c.79168A>G (p.Thr26390Ala)
c.100663A>G (p.Thr33555Ala)
c.100660A>G (p.Thr33554Ala)
c.100093A>G (p.Thr33365Ala)
c.97435A>G (p.Thr32479Ala)
c.97354A>G (p.Thr32452Ala)
c.79117A>G (p.Thr26373Ala)
c.68971A>G (p.Thr22991Ala)
 gnomAD v4
2g.178530393T>GCA349406550TTN,TTN-AS1c.98518A>C (p.Thr32840Pro)
c.79603A>C (p.Thr26535Pro)
c.79402A>C (p.Thr26468Pro)
c.79027A>C (p.Thr26343Pro)
c.106222A>C (p.Thr35408Pro)
c.101299A>C (p.Thr33767Pro)
n.446+6757T>G
n.220-5339T>G
c.105319A>C (p.Thr35107Pro)
c.79213A>C (p.Thr26405Pro)
c.79072A>C (p.Thr26358Pro)
c.105115A>C (p.Thr35039Pro)
c.100513A>C (p.Thr33505Pro)
c.100510A>C (p.Thr33504Pro)
c.97552A>C (p.Thr32518Pro)
c.79168A>C (p.Thr26390Pro)
c.100663A>C (p.Thr33555Pro)
c.100660A>C (p.Thr33554Pro)
c.100093A>C (p.Thr33365Pro)
c.97435A>C (p.Thr32479Pro)
c.97354A>C (p.Thr32452Pro)
c.79117A>C (p.Thr26373Pro)
c.68971A>C (p.Thr22991Pro)
2g.178530397dupCA1310514582TTN,TTN-AS1c.98518dup (p.Thr32840AsnfsTer2)
c.79603dup (p.Thr26535AsnfsTer2)
c.79402dup (p.Thr26468AsnfsTer2)
c.79027dup (p.Thr26343AsnfsTer2)
c.106222dup (p.Thr35408AsnfsTer2)
c.101299dup (p.Thr33767AsnfsTer2)
n.446+6761dup
n.220-5335dup
c.105319dup (p.Thr35107AsnfsTer2)
c.79213dup (p.Thr26405AsnfsTer2)
c.79072dup (p.Thr26358AsnfsTer2)
c.105115dup (p.Thr35039AsnfsTer2)
c.100513dup (p.Thr33505AsnfsTer2)
c.100510dup (p.Thr33504AsnfsTer2)
c.97552dup (p.Thr32518AsnfsTer2)
c.79168dup (p.Thr26390AsnfsTer2)
c.100663dup (p.Thr33555AsnfsTer2)
c.100660dup (p.Thr33554AsnfsTer2)
c.100093dup (p.Thr33365AsnfsTer2)
c.97435dup (p.Thr32479AsnfsTer2)
c.97354dup (p.Thr32452AsnfsTer2)
c.79117dup (p.Thr26373AsnfsTer2)
c.68971dup (p.Thr22991AsnfsTer2)
 dbSNP
2g.178530397delCA2662125713TTN,TTN-AS1c.98518del (p.Thr32840LeufsTer14)
c.79603del (p.Thr26535LeufsTer14)
c.79402del (p.Thr26468LeufsTer14)
c.79027del (p.Thr26343LeufsTer14)
c.106222del (p.Thr35408LeufsTer14)
c.101299del (p.Thr33767LeufsTer14)
n.446+6761del
n.220-5335del
c.105319del (p.Thr35107LeufsTer14)
c.79213del (p.Thr26405LeufsTer14)
c.79072del (p.Thr26358LeufsTer14)
c.105115del (p.Thr35039LeufsTer14)
c.100513del (p.Thr33505LeufsTer14)
c.100510del (p.Thr33504LeufsTer14)
c.97552del (p.Thr32518LeufsTer14)
c.79168del (p.Thr26390LeufsTer14)
c.100663del (p.Thr33555LeufsTer14)
c.100660del (p.Thr33554LeufsTer14)
c.100093del (p.Thr33365LeufsTer14)
c.97435del (p.Thr32479LeufsTer14)
c.97354del (p.Thr32452LeufsTer14)
c.79117del (p.Thr26373LeufsTer14)
c.68971del (p.Thr22991LeufsTer14)
 gnomAD v4
2g.178530394T>ACA349406552TTN,TTN-AS1c.98517A>T (p.Lys32839Asn)
c.79602A>T (p.Lys26534Asn)
c.79401A>T (p.Lys26467Asn)
c.79026A>T (p.Lys26342Asn)
c.106221A>T (p.Lys35407Asn)
c.101298A>T (p.Lys33766Asn)
n.446+6758T>A
n.220-5338T>A
c.105318A>T (p.Lys35106Asn)
c.79212A>T (p.Lys26404Asn)
c.79071A>T (p.Lys26357Asn)
c.105114A>T (p.Lys35038Asn)
c.100512A>T (p.Lys33504Asn)
c.100509A>T (p.Lys33503Asn)
c.97551A>T (p.Lys32517Asn)
c.79167A>T (p.Lys26389Asn)
c.100662A>T (p.Lys33554Asn)
c.100659A>T (p.Lys33553Asn)
c.100092A>T (p.Lys33364Asn)
c.97434A>T (p.Lys32478Asn)
c.97353A>T (p.Lys32451Asn)
c.79116A>T (p.Lys26372Asn)
c.68970A>T (p.Lys22990Asn)
2g.178530394T>CCA430235273TTN,TTN-AS1c.98517A>G (p.Lys32839=)
c.79602A>G (p.Lys26534=)
c.79401A>G (p.Lys26467=)
c.79026A>G (p.Lys26342=)
c.106221A>G (p.Lys35407=)
c.101298A>G (p.Lys33766=)
n.446+6758T>C
n.220-5338T>C
c.105318A>G (p.Lys35106=)
c.79212A>G (p.Lys26404=)
c.79071A>G (p.Lys26357=)
c.105114A>G (p.Lys35038=)
c.100512A>G (p.Lys33504=)
c.100509A>G (p.Lys33503=)
c.97551A>G (p.Lys32517=)
c.79167A>G (p.Lys26389=)
c.100662A>G (p.Lys33554=)
c.100659A>G (p.Lys33553=)
c.100092A>G (p.Lys33364=)
c.97434A>G (p.Lys32478=)
c.97353A>G (p.Lys32451=)
c.79116A>G (p.Lys26372=)
c.68970A>G (p.Lys22990=)
2g.178530394T>GCA349406554TTN,TTN-AS1c.98517A>C (p.Lys32839Asn)
c.79602A>C (p.Lys26534Asn)
c.79401A>C (p.Lys26467Asn)
c.79026A>C (p.Lys26342Asn)
c.106221A>C (p.Lys35407Asn)
c.101298A>C (p.Lys33766Asn)
n.446+6758T>G
n.220-5338T>G
c.105318A>C (p.Lys35106Asn)
c.79212A>C (p.Lys26404Asn)
c.79071A>C (p.Lys26357Asn)
c.105114A>C (p.Lys35038Asn)
c.100512A>C (p.Lys33504Asn)
c.100509A>C (p.Lys33503Asn)
c.97551A>C (p.Lys32517Asn)
c.79167A>C (p.Lys26389Asn)
c.100662A>C (p.Lys33554Asn)
c.100659A>C (p.Lys33553Asn)
c.100092A>C (p.Lys33364Asn)
c.97434A>C (p.Lys32478Asn)
c.97353A>C (p.Lys32451Asn)
c.79116A>C (p.Lys26372Asn)
c.68970A>C (p.Lys22990Asn)
2g.178530395T>ACA349406556TTN,TTN-AS1c.98516A>T (p.Lys32839Ile)
c.79601A>T (p.Lys26534Ile)
c.79400A>T (p.Lys26467Ile)
c.79025A>T (p.Lys26342Ile)
c.106220A>T (p.Lys35407Ile)
c.101297A>T (p.Lys33766Ile)
n.446+6759T>A
n.220-5337T>A
c.105317A>T (p.Lys35106Ile)
c.79211A>T (p.Lys26404Ile)
c.79070A>T (p.Lys26357Ile)
c.105113A>T (p.Lys35038Ile)
c.100511A>T (p.Lys33504Ile)
c.100508A>T (p.Lys33503Ile)
c.97550A>T (p.Lys32517Ile)
c.79166A>T (p.Lys26389Ile)
c.100661A>T (p.Lys33554Ile)
c.100658A>T (p.Lys33553Ile)
c.100091A>T (p.Lys33364Ile)
c.97433A>T (p.Lys32478Ile)
c.97352A>T (p.Lys32451Ile)
c.79115A>T (p.Lys26372Ile)
c.68969A>T (p.Lys22990Ile)
2g.178530395T>CCA349406558TTN,TTN-AS1c.98516A>G (p.Lys32839Arg)
c.79601A>G (p.Lys26534Arg)
c.79400A>G (p.Lys26467Arg)
c.79025A>G (p.Lys26342Arg)
c.106220A>G (p.Lys35407Arg)
c.101297A>G (p.Lys33766Arg)
n.446+6759T>C
n.220-5337T>C
c.105317A>G (p.Lys35106Arg)
c.79211A>G (p.Lys26404Arg)
c.79070A>G (p.Lys26357Arg)
c.105113A>G (p.Lys35038Arg)
c.100511A>G (p.Lys33504Arg)
c.100508A>G (p.Lys33503Arg)
c.97550A>G (p.Lys32517Arg)
c.79166A>G (p.Lys26389Arg)
c.100661A>G (p.Lys33554Arg)
c.100658A>G (p.Lys33553Arg)
c.100091A>G (p.Lys33364Arg)
c.97433A>G (p.Lys32478Arg)
c.97352A>G (p.Lys32451Arg)
c.79115A>G (p.Lys26372Arg)
c.68969A>G (p.Lys22990Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.178530395T>GCA349406560TTN,TTN-AS1c.98516A>C (p.Lys32839Thr)
c.79601A>C (p.Lys26534Thr)
c.79400A>C (p.Lys26467Thr)
c.79025A>C (p.Lys26342Thr)
c.106220A>C (p.Lys35407Thr)
c.101297A>C (p.Lys33766Thr)
n.446+6759T>G
n.220-5337T>G
c.105317A>C (p.Lys35106Thr)
c.79211A>C (p.Lys26404Thr)
c.79070A>C (p.Lys26357Thr)
c.105113A>C (p.Lys35038Thr)
c.100511A>C (p.Lys33504Thr)
c.100508A>C (p.Lys33503Thr)
c.97550A>C (p.Lys32517Thr)
c.79166A>C (p.Lys26389Thr)
c.100661A>C (p.Lys33554Thr)
c.100658A>C (p.Lys33553Thr)
c.100091A>C (p.Lys33364Thr)
c.97433A>C (p.Lys32478Thr)
c.97352A>C (p.Lys32451Thr)
c.79115A>C (p.Lys26372Thr)
c.68969A>C (p.Lys22990Thr)
2g.178530395T=CA1310514583TTN,TTN-AS1c.98516A= (p.Lys32839=)
c.79601A= (p.Lys26534=)
c.79400A= (p.Lys26467=)
c.79025A= (p.Lys26342=)
c.106220A= (p.Lys35407=)
c.101297A= (p.Lys33766=)
n.446+6759T=
n.220-5337T=
c.105317A= (p.Lys35106=)
c.79211A= (p.Lys26404=)
c.79070A= (p.Lys26357=)
c.105113A= (p.Lys35038=)
c.100511A= (p.Lys33504=)
c.100508A= (p.Lys33503=)
c.97550A= (p.Lys32517=)
c.79166A= (p.Lys26389=)
c.100661A= (p.Lys33554=)
c.100658A= (p.Lys33553=)
c.100091A= (p.Lys33364=)
c.97433A= (p.Lys32478=)
c.97352A= (p.Lys32451=)
c.79115A= (p.Lys26372=)
c.68969A= (p.Lys22990=)
2g.178530396T>ACA349406562TTN,TTN-AS1c.98515A>T (p.Lys32839Ter)
c.79600A>T (p.Lys26534Ter)
c.79399A>T (p.Lys26467Ter)
c.79024A>T (p.Lys26342Ter)
c.106219A>T (p.Lys35407Ter)
c.101296A>T (p.Lys33766Ter)
n.446+6760T>A
n.220-5336T>A
c.105316A>T (p.Lys35106Ter)
c.79210A>T (p.Lys26404Ter)
c.79069A>T (p.Lys26357Ter)
c.105112A>T (p.Lys35038Ter)
c.100510A>T (p.Lys33504Ter)
c.100507A>T (p.Lys33503Ter)
c.97549A>T (p.Lys32517Ter)
c.79165A>T (p.Lys26389Ter)
c.100660A>T (p.Lys33554Ter)
c.100657A>T (p.Lys33553Ter)
c.100090A>T (p.Lys33364Ter)
c.97432A>T (p.Lys32478Ter)
c.97351A>T (p.Lys32451Ter)
c.79114A>T (p.Lys26372Ter)
c.68968A>T (p.Lys22990Ter)
2g.178530396T>CCA349406565TTN,TTN-AS1c.98515A>G (p.Lys32839Glu)
c.79600A>G (p.Lys26534Glu)
c.79399A>G (p.Lys26467Glu)
c.79024A>G (p.Lys26342Glu)
c.106219A>G (p.Lys35407Glu)
c.101296A>G (p.Lys33766Glu)
n.446+6760T>C
n.220-5336T>C
c.105316A>G (p.Lys35106Glu)
c.79210A>G (p.Lys26404Glu)
c.79069A>G (p.Lys26357Glu)
c.105112A>G (p.Lys35038Glu)
c.100510A>G (p.Lys33504Glu)
c.100507A>G (p.Lys33503Glu)
c.97549A>G (p.Lys32517Glu)
c.79165A>G (p.Lys26389Glu)
c.100660A>G (p.Lys33554Glu)
c.100657A>G (p.Lys33553Glu)
c.100090A>G (p.Lys33364Glu)
c.97432A>G (p.Lys32478Glu)
c.97351A>G (p.Lys32451Glu)
c.79114A>G (p.Lys26372Glu)
c.68968A>G (p.Lys22990Glu)
 ClinVar dbSNP
2g.178530396T>GCA349406567TTN,TTN-AS1c.98515A>C (p.Lys32839Gln)
c.79600A>C (p.Lys26534Gln)
c.79399A>C (p.Lys26467Gln)
c.79024A>C (p.Lys26342Gln)
c.106219A>C (p.Lys35407Gln)
c.101296A>C (p.Lys33766Gln)
n.446+6760T>G
n.220-5336T>G
c.105316A>C (p.Lys35106Gln)
c.79210A>C (p.Lys26404Gln)
c.79069A>C (p.Lys26357Gln)
c.105112A>C (p.Lys35038Gln)
c.100510A>C (p.Lys33504Gln)
c.100507A>C (p.Lys33503Gln)
c.97549A>C (p.Lys32517Gln)
c.79165A>C (p.Lys26389Gln)
c.100660A>C (p.Lys33554Gln)
c.100657A>C (p.Lys33553Gln)
c.100090A>C (p.Lys33364Gln)
c.97432A>C (p.Lys32478Gln)
c.97351A>C (p.Lys32451Gln)
c.79114A>C (p.Lys26372Gln)
c.68968A>C (p.Lys22990Gln)
2g.178530396T=CA1310514585TTN,TTN-AS1c.98515A= (p.Lys32839=)
c.79600A= (p.Lys26534=)
c.79399A= (p.Lys26467=)
c.79024A= (p.Lys26342=)
c.106219A= (p.Lys35407=)
c.101296A= (p.Lys33766=)
n.446+6760T=
n.220-5336T=
c.105316A= (p.Lys35106=)
c.79210A= (p.Lys26404=)
c.79069A= (p.Lys26357=)
c.105112A= (p.Lys35038=)
c.100510A= (p.Lys33504=)
c.100507A= (p.Lys33503=)
c.97549A= (p.Lys32517=)
c.79165A= (p.Lys26389=)
c.100660A= (p.Lys33554=)
c.100657A= (p.Lys33553=)
c.100090A= (p.Lys33364=)
c.97432A= (p.Lys32478=)
c.97351A= (p.Lys32451=)
c.79114A= (p.Lys26372=)
c.68968A= (p.Lys22990=)
2g.178530397T>ACA349406570TTN,TTN-AS1c.98514A>T (p.Arg32838Ser)
c.79599A>T (p.Arg26533Ser)
c.79398A>T (p.Arg26466Ser)
c.79023A>T (p.Arg26341Ser)
c.106218A>T (p.Arg35406Ser)
c.101295A>T (p.Arg33765Ser)
n.446+6761T>A
n.220-5335T>A
c.105315A>T (p.Arg35105Ser)
c.79209A>T (p.Arg26403Ser)
c.79068A>T (p.Arg26356Ser)
c.105111A>T (p.Arg35037Ser)
c.100509A>T (p.Arg33503Ser)
c.100506A>T (p.Arg33502Ser)
c.97548A>T (p.Arg32516Ser)
c.79164A>T (p.Arg26388Ser)
c.100659A>T (p.Arg33553Ser)
c.100656A>T (p.Arg33552Ser)
c.100089A>T (p.Arg33363Ser)
c.97431A>T (p.Arg32477Ser)
c.97350A>T (p.Arg32450Ser)
c.79113A>T (p.Arg26371Ser)
c.68967A>T (p.Arg22989Ser)
2g.178530397T>CCA430235276TTN,TTN-AS1c.98514A>G (p.Arg32838=)
c.79599A>G (p.Arg26533=)
c.79398A>G (p.Arg26466=)
c.79023A>G (p.Arg26341=)
c.106218A>G (p.Arg35406=)
c.101295A>G (p.Arg33765=)
n.446+6761T>C
n.220-5335T>C
c.105315A>G (p.Arg35105=)
c.79209A>G (p.Arg26403=)
c.79068A>G (p.Arg26356=)
c.105111A>G (p.Arg35037=)
c.100509A>G (p.Arg33503=)
c.100506A>G (p.Arg33502=)
c.97548A>G (p.Arg32516=)
c.79164A>G (p.Arg26388=)
c.100659A>G (p.Arg33553=)
c.100656A>G (p.Arg33552=)
c.100089A>G (p.Arg33363=)
c.97431A>G (p.Arg32477=)
c.97350A>G (p.Arg32450=)
c.79113A>G (p.Arg26371=)
c.68967A>G (p.Arg22989=)
2g.178530397T>GCA349406571TTN,TTN-AS1c.98514A>C (p.Arg32838Ser)
c.79599A>C (p.Arg26533Ser)
c.79398A>C (p.Arg26466Ser)
c.79023A>C (p.Arg26341Ser)
c.106218A>C (p.Arg35406Ser)
c.101295A>C (p.Arg33765Ser)
n.446+6761T>G
n.220-5335T>G
c.105315A>C (p.Arg35105Ser)
c.79209A>C (p.Arg26403Ser)
c.79068A>C (p.Arg26356Ser)
c.105111A>C (p.Arg35037Ser)
c.100509A>C (p.Arg33503Ser)
c.100506A>C (p.Arg33502Ser)
c.97548A>C (p.Arg32516Ser)
c.79164A>C (p.Arg26388Ser)
c.100659A>C (p.Arg33553Ser)
c.100656A>C (p.Arg33552Ser)
c.100089A>C (p.Arg33363Ser)
c.97431A>C (p.Arg32477Ser)
c.97350A>C (p.Arg32450Ser)
c.79113A>C (p.Arg26371Ser)
c.68967A>C (p.Arg22989Ser)
2g.178530398delCA2753330745TTN,TTN-AS1c.98513del (p.Arg32838LysfsTer16)
c.79598del (p.Arg26533LysfsTer16)
c.79397del (p.Arg26466LysfsTer16)
c.79022del (p.Arg26341LysfsTer16)
c.106217del (p.Arg35406LysfsTer16)
c.101294del (p.Arg33765LysfsTer16)
n.446+6762del
n.220-5334del
c.105314del (p.Arg35105LysfsTer16)
c.79208del (p.Arg26403LysfsTer16)
c.79067del (p.Arg26356LysfsTer16)
c.105110del (p.Arg35037LysfsTer16)
c.100508del (p.Arg33503LysfsTer16)
c.100505del (p.Arg33502LysfsTer16)
c.97547del (p.Arg32516LysfsTer16)
c.79163del (p.Arg26388LysfsTer16)
c.100658del (p.Arg33553LysfsTer16)
c.100655del (p.Arg33552LysfsTer16)
c.100088del (p.Arg33363LysfsTer16)
c.97430del (p.Arg32477LysfsTer16)
c.97349del (p.Arg32450LysfsTer16)
c.79112del (p.Arg26371LysfsTer16)
c.68966del (p.Arg22989LysfsTer16)
2g.178530398C>ACA349406578TTN,TTN-AS1c.98513G>T (p.Arg32838Ile)
c.79598G>T (p.Arg26533Ile)
c.79397G>T (p.Arg26466Ile)
c.79022G>T (p.Arg26341Ile)
c.106217G>T (p.Arg35406Ile)
c.101294G>T (p.Arg33765Ile)
n.446+6762C>A
n.220-5334C>A
c.105314G>T (p.Arg35105Ile)
c.79208G>T (p.Arg26403Ile)
c.79067G>T (p.Arg26356Ile)
c.105110G>T (p.Arg35037Ile)
c.100508G>T (p.Arg33503Ile)
c.100505G>T (p.Arg33502Ile)
c.97547G>T (p.Arg32516Ile)
c.79163G>T (p.Arg26388Ile)
c.100658G>T (p.Arg33553Ile)
c.100655G>T (p.Arg33552Ile)
c.100088G>T (p.Arg33363Ile)
c.97430G>T (p.Arg32477Ile)
c.97349G>T (p.Arg32450Ile)
c.79112G>T (p.Arg26371Ile)
c.68966G>T (p.Arg22989Ile)
2g.178530398C=CA1310514588TTN,TTN-AS1c.98513G= (p.Arg32838=)
c.79598G= (p.Arg26533=)
c.79397G= (p.Arg26466=)
c.79022G= (p.Arg26341=)
c.106217G= (p.Arg35406=)
c.101294G= (p.Arg33765=)
n.446+6762C=
n.220-5334C=
c.105314G= (p.Arg35105=)
c.79208G= (p.Arg26403=)
c.79067G= (p.Arg26356=)
c.105110G= (p.Arg35037=)
c.100508G= (p.Arg33503=)
c.100505G= (p.Arg33502=)
c.97547G= (p.Arg32516=)
c.79163G= (p.Arg26388=)
c.100658G= (p.Arg33553=)
c.100655G= (p.Arg33552=)
c.100088G= (p.Arg33363=)
c.97430G= (p.Arg32477=)
c.97349G= (p.Arg32450=)
c.79112G= (p.Arg26371=)
c.68966G= (p.Arg22989=)
2g.178530398C>GCA1985143TTN,TTN-AS1c.98513G>C (p.Arg32838Thr)
c.79598G>C (p.Arg26533Thr)
c.79397G>C (p.Arg26466Thr)
c.79022G>C (p.Arg26341Thr)
c.106217G>C (p.Arg35406Thr)
c.101294G>C (p.Arg33765Thr)
n.446+6762C>G
n.220-5334C>G
c.105314G>C (p.Arg35105Thr)
c.79208G>C (p.Arg26403Thr)
c.79067G>C (p.Arg26356Thr)
c.105110G>C (p.Arg35037Thr)
c.100508G>C (p.Arg33503Thr)
c.100505G>C (p.Arg33502Thr)
c.97547G>C (p.Arg32516Thr)
c.79163G>C (p.Arg26388Thr)
c.100658G>C (p.Arg33553Thr)
c.100655G>C (p.Arg33552Thr)
c.100088G>C (p.Arg33363Thr)
c.97430G>C (p.Arg32477Thr)
c.97349G>C (p.Arg32450Thr)
c.79112G>C (p.Arg26371Thr)
c.68966G>C (p.Arg22989Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530398C>TCA1985144TTN,TTN-AS1c.98513G>A (p.Arg32838Lys)
c.79598G>A (p.Arg26533Lys)
c.79397G>A (p.Arg26466Lys)
c.79022G>A (p.Arg26341Lys)
c.106217G>A (p.Arg35406Lys)
c.101294G>A (p.Arg33765Lys)
n.446+6762C>T
n.220-5334C>T
c.105314G>A (p.Arg35105Lys)
c.79208G>A (p.Arg26403Lys)
c.79067G>A (p.Arg26356Lys)
c.105110G>A (p.Arg35037Lys)
c.100508G>A (p.Arg33503Lys)
c.100505G>A (p.Arg33502Lys)
c.97547G>A (p.Arg32516Lys)
c.79163G>A (p.Arg26388Lys)
c.100658G>A (p.Arg33553Lys)
c.100655G>A (p.Arg33552Lys)
c.100088G>A (p.Arg33363Lys)
c.97430G>A (p.Arg32477Lys)
c.97349G>A (p.Arg32450Lys)
c.79112G>A (p.Arg26371Lys)
c.68966G>A (p.Arg22989Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530399T>ACA349406580TTN,TTN-AS1c.98512A>T (p.Arg32838Ter)
c.79597A>T (p.Arg26533Ter)
c.79396A>T (p.Arg26466Ter)
c.79021A>T (p.Arg26341Ter)
c.106216A>T (p.Arg35406Ter)
c.101293A>T (p.Arg33765Ter)
n.446+6763T>A
n.220-5333T>A
c.105313A>T (p.Arg35105Ter)
c.79207A>T (p.Arg26403Ter)
c.79066A>T (p.Arg26356Ter)
c.105109A>T (p.Arg35037Ter)
c.100507A>T (p.Arg33503Ter)
c.100504A>T (p.Arg33502Ter)
c.97546A>T (p.Arg32516Ter)
c.79162A>T (p.Arg26388Ter)
c.100657A>T (p.Arg33553Ter)
c.100654A>T (p.Arg33552Ter)
c.100087A>T (p.Arg33363Ter)
c.97429A>T (p.Arg32477Ter)
c.97348A>T (p.Arg32450Ter)
c.79111A>T (p.Arg26371Ter)
c.68965A>T (p.Arg22989Ter)
2g.178530399T>CCA349406582TTN,TTN-AS1c.98512A>G (p.Arg32838Gly)
c.79597A>G (p.Arg26533Gly)
c.79396A>G (p.Arg26466Gly)
c.79021A>G (p.Arg26341Gly)
c.106216A>G (p.Arg35406Gly)
c.101293A>G (p.Arg33765Gly)
n.446+6763T>C
n.220-5333T>C
c.105313A>G (p.Arg35105Gly)
c.79207A>G (p.Arg26403Gly)
c.79066A>G (p.Arg26356Gly)
c.105109A>G (p.Arg35037Gly)
c.100507A>G (p.Arg33503Gly)
c.100504A>G (p.Arg33502Gly)
c.97546A>G (p.Arg32516Gly)
c.79162A>G (p.Arg26388Gly)
c.100657A>G (p.Arg33553Gly)
c.100654A>G (p.Arg33552Gly)
c.100087A>G (p.Arg33363Gly)
c.97429A>G (p.Arg32477Gly)
c.97348A>G (p.Arg32450Gly)
c.79111A>G (p.Arg26371Gly)
c.68965A>G (p.Arg22989Gly)
2g.178530399T>GCA430235279TTN,TTN-AS1c.98512A>C (p.Arg32838=)
c.79597A>C (p.Arg26533=)
c.79396A>C (p.Arg26466=)
c.79021A>C (p.Arg26341=)
c.106216A>C (p.Arg35406=)
c.101293A>C (p.Arg33765=)
n.446+6763T>G
n.220-5333T>G
c.105313A>C (p.Arg35105=)
c.79207A>C (p.Arg26403=)
c.79066A>C (p.Arg26356=)
c.105109A>C (p.Arg35037=)
c.100507A>C (p.Arg33503=)
c.100504A>C (p.Arg33502=)
c.97546A>C (p.Arg32516=)
c.79162A>C (p.Arg26388=)
c.100657A>C (p.Arg33553=)
c.100654A>C (p.Arg33552=)
c.100087A>C (p.Arg33363=)
c.97429A>C (p.Arg32477=)
c.97348A>C (p.Arg32450=)
c.79111A>C (p.Arg26371=)
c.68965A>C (p.Arg22989=)
 ClinVar dbSNP gnomAD v4
2g.178530399T=CA1310514590TTN,TTN-AS1c.98512A= (p.Arg32838=)
c.79597A= (p.Arg26533=)
c.79396A= (p.Arg26466=)
c.79021A= (p.Arg26341=)
c.106216A= (p.Arg35406=)
c.101293A= (p.Arg33765=)
n.446+6763T=
n.220-5333T=
c.105313A= (p.Arg35105=)
c.79207A= (p.Arg26403=)
c.79066A= (p.Arg26356=)
c.105109A= (p.Arg35037=)
c.100507A= (p.Arg33503=)
c.100504A= (p.Arg33502=)
c.97546A= (p.Arg32516=)
c.79162A= (p.Arg26388=)
c.100657A= (p.Arg33553=)
c.100654A= (p.Arg33552=)
c.100087A= (p.Arg33363=)
c.97429A= (p.Arg32477=)
c.97348A= (p.Arg32450=)
c.79111A= (p.Arg26371=)
c.68965A= (p.Arg22989=)
2g.178530400G>ACA10587441TTN,TTN-AS1c.98511C>T (p.Thr32837=)
c.79596C>T (p.Thr26532=)
c.79395C>T (p.Thr26465=)
c.79020C>T (p.Thr26340=)
c.106215C>T (p.Thr35405=)
c.101292C>T (p.Thr33764=)
n.446+6764G>A
n.220-5332G>A
c.105312C>T (p.Thr35104=)
c.79206C>T (p.Thr26402=)
c.79065C>T (p.Thr26355=)
c.105108C>T (p.Thr35036=)
c.100506C>T (p.Thr33502=)
c.100503C>T (p.Thr33501=)
c.97545C>T (p.Thr32515=)
c.79161C>T (p.Thr26387=)
c.100656C>T (p.Thr33552=)
c.100653C>T (p.Thr33551=)
c.100086C>T (p.Thr33362=)
c.97428C>T (p.Thr32476=)
c.97347C>T (p.Thr32449=)
c.79110C>T (p.Thr26370=)
c.68964C>T (p.Thr22988=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178530400G>CCA430235282TTN,TTN-AS1c.98511C>G (p.Thr32837=)
c.79596C>G (p.Thr26532=)
c.79395C>G (p.Thr26465=)
c.79020C>G (p.Thr26340=)
c.106215C>G (p.Thr35405=)
c.101292C>G (p.Thr33764=)
n.446+6764G>C
n.220-5332G>C
c.105312C>G (p.Thr35104=)
c.79206C>G (p.Thr26402=)
c.79065C>G (p.Thr26355=)
c.105108C>G (p.Thr35036=)
c.100506C>G (p.Thr33502=)
c.100503C>G (p.Thr33501=)
c.97545C>G (p.Thr32515=)
c.79161C>G (p.Thr26387=)
c.100656C>G (p.Thr33552=)
c.100653C>G (p.Thr33551=)
c.100086C>G (p.Thr33362=)
c.97428C>G (p.Thr32476=)
c.97347C>G (p.Thr32449=)
c.79110C>G (p.Thr26370=)
c.68964C>G (p.Thr22988=)
2g.178530400G=CA1310514592TTN,TTN-AS1c.98511C= (p.Thr32837=)
c.79596C= (p.Thr26532=)
c.79395C= (p.Thr26465=)
c.79020C= (p.Thr26340=)
c.106215C= (p.Thr35405=)
c.101292C= (p.Thr33764=)
n.446+6764G=
n.220-5332G=
c.105312C= (p.Thr35104=)
c.79206C= (p.Thr26402=)
c.79065C= (p.Thr26355=)
c.105108C= (p.Thr35036=)
c.100506C= (p.Thr33502=)
c.100503C= (p.Thr33501=)
c.97545C= (p.Thr32515=)
c.79161C= (p.Thr26387=)
c.100656C= (p.Thr33552=)
c.100653C= (p.Thr33551=)
c.100086C= (p.Thr33362=)
c.97428C= (p.Thr32476=)
c.97347C= (p.Thr32449=)
c.79110C= (p.Thr26370=)
c.68964C= (p.Thr22988=)
2g.178530400G>TCA430235280TTN,TTN-AS1c.98511C>A (p.Thr32837=)
c.79596C>A (p.Thr26532=)
c.79395C>A (p.Thr26465=)
c.79020C>A (p.Thr26340=)
c.106215C>A (p.Thr35405=)
c.101292C>A (p.Thr33764=)
n.446+6764G>T
n.220-5332G>T
c.105312C>A (p.Thr35104=)
c.79206C>A (p.Thr26402=)
c.79065C>A (p.Thr26355=)
c.105108C>A (p.Thr35036=)
c.100506C>A (p.Thr33502=)
c.100503C>A (p.Thr33501=)
c.97545C>A (p.Thr32515=)
c.79161C>A (p.Thr26387=)
c.100656C>A (p.Thr33552=)
c.100653C>A (p.Thr33551=)
c.100086C>A (p.Thr33362=)
c.97428C>A (p.Thr32476=)
c.97347C>A (p.Thr32449=)
c.79110C>A (p.Thr26370=)
c.68964C>A (p.Thr22988=)
2g.178530401G>ACA349406586TTN,TTN-AS1c.98510C>T (p.Thr32837Ile)
c.79595C>T (p.Thr26532Ile)
c.79394C>T (p.Thr26465Ile)
c.79019C>T (p.Thr26340Ile)
c.106214C>T (p.Thr35405Ile)
c.101291C>T (p.Thr33764Ile)
n.446+6765G>A
n.220-5331G>A
c.105311C>T (p.Thr35104Ile)
c.79205C>T (p.Thr26402Ile)
c.79064C>T (p.Thr26355Ile)
c.105107C>T (p.Thr35036Ile)
c.100505C>T (p.Thr33502Ile)
c.100502C>T (p.Thr33501Ile)
c.97544C>T (p.Thr32515Ile)
c.79160C>T (p.Thr26387Ile)
c.100655C>T (p.Thr33552Ile)
c.100652C>T (p.Thr33551Ile)
c.100085C>T (p.Thr33362Ile)
c.97427C>T (p.Thr32476Ile)
c.97346C>T (p.Thr32449Ile)
c.79109C>T (p.Thr26370Ile)
c.68963C>T (p.Thr22988Ile)
2g.178530401G>CCA349406588TTN,TTN-AS1c.98510C>G (p.Thr32837Ser)
c.79595C>G (p.Thr26532Ser)
c.79394C>G (p.Thr26465Ser)
c.79019C>G (p.Thr26340Ser)
c.106214C>G (p.Thr35405Ser)
c.101291C>G (p.Thr33764Ser)
n.446+6765G>C
n.220-5331G>C
c.105311C>G (p.Thr35104Ser)
c.79205C>G (p.Thr26402Ser)
c.79064C>G (p.Thr26355Ser)
c.105107C>G (p.Thr35036Ser)
c.100505C>G (p.Thr33502Ser)
c.100502C>G (p.Thr33501Ser)
c.97544C>G (p.Thr32515Ser)
c.79160C>G (p.Thr26387Ser)
c.100655C>G (p.Thr33552Ser)
c.100652C>G (p.Thr33551Ser)
c.100085C>G (p.Thr33362Ser)
c.97427C>G (p.Thr32476Ser)
c.97346C>G (p.Thr32449Ser)
c.79109C>G (p.Thr26370Ser)
c.68963C>G (p.Thr22988Ser)
 ClinVar dbSNP gnomAD v4
2g.178530401G=CA1310514595TTN,TTN-AS1c.98510C= (p.Thr32837=)
c.79595C= (p.Thr26532=)
c.79394C= (p.Thr26465=)
c.79019C= (p.Thr26340=)
c.106214C= (p.Thr35405=)
c.101291C= (p.Thr33764=)
n.446+6765G=
n.220-5331G=
c.105311C= (p.Thr35104=)
c.79205C= (p.Thr26402=)
c.79064C= (p.Thr26355=)
c.105107C= (p.Thr35036=)
c.100505C= (p.Thr33502=)
c.100502C= (p.Thr33501=)
c.97544C= (p.Thr32515=)
c.79160C= (p.Thr26387=)
c.100655C= (p.Thr33552=)
c.100652C= (p.Thr33551=)
c.100085C= (p.Thr33362=)
c.97427C= (p.Thr32476=)
c.97346C= (p.Thr32449=)
c.79109C= (p.Thr26370=)
c.68963C= (p.Thr22988=)
2g.178530401G>TCA349406593TTN,TTN-AS1c.98510C>A (p.Thr32837Asn)
c.79595C>A (p.Thr26532Asn)
c.79394C>A (p.Thr26465Asn)
c.79019C>A (p.Thr26340Asn)
c.106214C>A (p.Thr35405Asn)
c.101291C>A (p.Thr33764Asn)
n.446+6765G>T
n.220-5331G>T
c.105311C>A (p.Thr35104Asn)
c.79205C>A (p.Thr26402Asn)
c.79064C>A (p.Thr26355Asn)
c.105107C>A (p.Thr35036Asn)
c.100505C>A (p.Thr33502Asn)
c.100502C>A (p.Thr33501Asn)
c.97544C>A (p.Thr32515Asn)
c.79160C>A (p.Thr26387Asn)
c.100655C>A (p.Thr33552Asn)
c.100652C>A (p.Thr33551Asn)
c.100085C>A (p.Thr33362Asn)
c.97427C>A (p.Thr32476Asn)
c.97346C>A (p.Thr32449Asn)
c.79109C>A (p.Thr26370Asn)
c.68963C>A (p.Thr22988Asn)
2g.178530402T>ACA349406595TTN,TTN-AS1c.98509A>T (p.Thr32837Ser)
c.79594A>T (p.Thr26532Ser)
c.79393A>T (p.Thr26465Ser)
c.79018A>T (p.Thr26340Ser)
c.106213A>T (p.Thr35405Ser)
c.101290A>T (p.Thr33764Ser)
n.446+6766T>A
n.220-5330T>A
c.105310A>T (p.Thr35104Ser)
c.79204A>T (p.Thr26402Ser)
c.79063A>T (p.Thr26355Ser)
c.105106A>T (p.Thr35036Ser)
c.100504A>T (p.Thr33502Ser)
c.100501A>T (p.Thr33501Ser)
c.97543A>T (p.Thr32515Ser)
c.79159A>T (p.Thr26387Ser)
c.100654A>T (p.Thr33552Ser)
c.100651A>T (p.Thr33551Ser)
c.100084A>T (p.Thr33362Ser)
c.97426A>T (p.Thr32476Ser)
c.97345A>T (p.Thr32449Ser)
c.79108A>T (p.Thr26370Ser)
c.68962A>T (p.Thr22988Ser)
2g.178530402T>CCA349406598TTN,TTN-AS1c.98509A>G (p.Thr32837Ala)
c.79594A>G (p.Thr26532Ala)
c.79393A>G (p.Thr26465Ala)
c.79018A>G (p.Thr26340Ala)
c.106213A>G (p.Thr35405Ala)
c.101290A>G (p.Thr33764Ala)
n.446+6766T>C
n.220-5330T>C
c.105310A>G (p.Thr35104Ala)
c.79204A>G (p.Thr26402Ala)
c.79063A>G (p.Thr26355Ala)
c.105106A>G (p.Thr35036Ala)
c.100504A>G (p.Thr33502Ala)
c.100501A>G (p.Thr33501Ala)
c.97543A>G (p.Thr32515Ala)
c.79159A>G (p.Thr26387Ala)
c.100654A>G (p.Thr33552Ala)
c.100651A>G (p.Thr33551Ala)
c.100084A>G (p.Thr33362Ala)
c.97426A>G (p.Thr32476Ala)
c.97345A>G (p.Thr32449Ala)
c.79108A>G (p.Thr26370Ala)
c.68962A>G (p.Thr22988Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.178530402T>GCA1985145TTN,TTN-AS1c.98509A>C (p.Thr32837Pro)
c.79594A>C (p.Thr26532Pro)
c.79393A>C (p.Thr26465Pro)
c.79018A>C (p.Thr26340Pro)
c.106213A>C (p.Thr35405Pro)
c.101290A>C (p.Thr33764Pro)
n.446+6766T>G
n.220-5330T>G
c.105310A>C (p.Thr35104Pro)
c.79204A>C (p.Thr26402Pro)
c.79063A>C (p.Thr26355Pro)
c.105106A>C (p.Thr35036Pro)
c.100504A>C (p.Thr33502Pro)
c.100501A>C (p.Thr33501Pro)
c.97543A>C (p.Thr32515Pro)
c.79159A>C (p.Thr26387Pro)
c.100654A>C (p.Thr33552Pro)
c.100651A>C (p.Thr33551Pro)
c.100084A>C (p.Thr33362Pro)
c.97426A>C (p.Thr32476Pro)
c.97345A>C (p.Thr32449Pro)
c.79108A>C (p.Thr26370Pro)
c.68962A>C (p.Thr22988Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530402T=CA1310514598TTN,TTN-AS1c.98509A= (p.Thr32837=)
c.79594A= (p.Thr26532=)
c.79393A= (p.Thr26465=)
c.79018A= (p.Thr26340=)
c.106213A= (p.Thr35405=)
c.101290A= (p.Thr33764=)
n.446+6766T=
n.220-5330T=
c.105310A= (p.Thr35104=)
c.79204A= (p.Thr26402=)
c.79063A= (p.Thr26355=)
c.105106A= (p.Thr35036=)
c.100504A= (p.Thr33502=)
c.100501A= (p.Thr33501=)
c.97543A= (p.Thr32515=)
c.79159A= (p.Thr26387=)
c.100654A= (p.Thr33552=)
c.100651A= (p.Thr33551=)
c.100084A= (p.Thr33362=)
c.97426A= (p.Thr32476=)
c.97345A= (p.Thr32449=)
c.79108A= (p.Thr26370=)
c.68962A= (p.Thr22988=)
2g.178530403T>ACA430235283TTN,TTN-AS1c.98508A>T (p.Val32836=)
c.79593A>T (p.Val26531=)
c.79392A>T (p.Val26464=)
c.79017A>T (p.Val26339=)
c.106212A>T (p.Val35404=)
c.101289A>T (p.Val33763=)
n.446+6767T>A
n.220-5329T>A
c.105309A>T (p.Val35103=)
c.79203A>T (p.Val26401=)
c.79062A>T (p.Val26354=)
c.105105A>T (p.Val35035=)
c.100503A>T (p.Val33501=)
c.100500A>T (p.Val33500=)
c.97542A>T (p.Val32514=)
c.79158A>T (p.Val26386=)
c.100653A>T (p.Val33551=)
c.100650A>T (p.Val33550=)
c.100083A>T (p.Val33361=)
c.97425A>T (p.Val32475=)
c.97344A>T (p.Val32448=)
c.79107A>T (p.Val26369=)
c.68961A>T (p.Val22987=)
2g.178530403T>CCA430235284TTN,TTN-AS1c.98508A>G (p.Val32836=)
c.79593A>G (p.Val26531=)
c.79392A>G (p.Val26464=)
c.79017A>G (p.Val26339=)
c.106212A>G (p.Val35404=)
c.101289A>G (p.Val33763=)
n.446+6767T>C
n.220-5329T>C
c.105309A>G (p.Val35103=)
c.79203A>G (p.Val26401=)
c.79062A>G (p.Val26354=)
c.105105A>G (p.Val35035=)
c.100503A>G (p.Val33501=)
c.100500A>G (p.Val33500=)
c.97542A>G (p.Val32514=)
c.79158A>G (p.Val26386=)
c.100653A>G (p.Val33551=)
c.100650A>G (p.Val33550=)
c.100083A>G (p.Val33361=)
c.97425A>G (p.Val32475=)
c.97344A>G (p.Val32448=)
c.79107A>G (p.Val26369=)
c.68961A>G (p.Val22987=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530403T>GCA430235286TTN,TTN-AS1c.98508A>C (p.Val32836=)
c.79593A>C (p.Val26531=)
c.79392A>C (p.Val26464=)
c.79017A>C (p.Val26339=)
c.106212A>C (p.Val35404=)
c.101289A>C (p.Val33763=)
n.446+6767T>G
n.220-5329T>G
c.105309A>C (p.Val35103=)
c.79203A>C (p.Val26401=)
c.79062A>C (p.Val26354=)
c.105105A>C (p.Val35035=)
c.100503A>C (p.Val33501=)
c.100500A>C (p.Val33500=)
c.97542A>C (p.Val32514=)
c.79158A>C (p.Val26386=)
c.100653A>C (p.Val33551=)
c.100650A>C (p.Val33550=)
c.100083A>C (p.Val33361=)
c.97425A>C (p.Val32475=)
c.97344A>C (p.Val32448=)
c.79107A>C (p.Val26369=)
c.68961A>C (p.Val22987=)
 ClinVar dbSNP
2g.178530403T=CA1310514599TTN,TTN-AS1c.98508A= (p.Val32836=)
c.79593A= (p.Val26531=)
c.79392A= (p.Val26464=)
c.79017A= (p.Val26339=)
c.106212A= (p.Val35404=)
c.101289A= (p.Val33763=)
n.446+6767T=
n.220-5329T=
c.105309A= (p.Val35103=)
c.79203A= (p.Val26401=)
c.79062A= (p.Val26354=)
c.105105A= (p.Val35035=)
c.100503A= (p.Val33501=)
c.100500A= (p.Val33500=)
c.97542A= (p.Val32514=)
c.79158A= (p.Val26386=)
c.100653A= (p.Val33551=)
c.100650A= (p.Val33550=)
c.100083A= (p.Val33361=)
c.97425A= (p.Val32475=)
c.97344A= (p.Val32448=)
c.79107A= (p.Val26369=)
c.68961A= (p.Val22987=)
2g.178530404A=CA1310514601TTN,TTN-AS1c.98507T= (p.Val32836=)
c.79592T= (p.Val26531=)
c.79391T= (p.Val26464=)
c.79016T= (p.Val26339=)
c.106211T= (p.Val35404=)
c.101288T= (p.Val33763=)
n.446+6768A=
n.220-5328A=
c.105308T= (p.Val35103=)
c.79202T= (p.Val26401=)
c.79061T= (p.Val26354=)
c.105104T= (p.Val35035=)
c.100502T= (p.Val33501=)
c.100499T= (p.Val33500=)
c.97541T= (p.Val32514=)
c.79157T= (p.Val26386=)
c.100652T= (p.Val33551=)
c.100649T= (p.Val33550=)
c.100082T= (p.Val33361=)
c.97424T= (p.Val32475=)
c.97343T= (p.Val32448=)
c.79106T= (p.Val26369=)
c.68960T= (p.Val22987=)
2g.178530404A>CCA349406599TTN,TTN-AS1c.98507T>G (p.Val32836Gly)
c.79592T>G (p.Val26531Gly)
c.79391T>G (p.Val26464Gly)
c.79016T>G (p.Val26339Gly)
c.106211T>G (p.Val35404Gly)
c.101288T>G (p.Val33763Gly)
n.446+6768A>C
n.220-5328A>C
c.105308T>G (p.Val35103Gly)
c.79202T>G (p.Val26401Gly)
c.79061T>G (p.Val26354Gly)
c.105104T>G (p.Val35035Gly)
c.100502T>G (p.Val33501Gly)
c.100499T>G (p.Val33500Gly)
c.97541T>G (p.Val32514Gly)
c.79157T>G (p.Val26386Gly)
c.100652T>G (p.Val33551Gly)
c.100649T>G (p.Val33550Gly)
c.100082T>G (p.Val33361Gly)
c.97424T>G (p.Val32475Gly)
c.97343T>G (p.Val32448Gly)
c.79106T>G (p.Val26369Gly)
c.68960T>G (p.Val22987Gly)
2g.178530404A>GCA349406600TTN,TTN-AS1c.98507T>C (p.Val32836Ala)
c.79592T>C (p.Val26531Ala)
c.79391T>C (p.Val26464Ala)
c.79016T>C (p.Val26339Ala)
c.106211T>C (p.Val35404Ala)
c.101288T>C (p.Val33763Ala)
n.446+6768A>G
n.220-5328A>G
c.105308T>C (p.Val35103Ala)
c.79202T>C (p.Val26401Ala)
c.79061T>C (p.Val26354Ala)
c.105104T>C (p.Val35035Ala)
c.100502T>C (p.Val33501Ala)
c.100499T>C (p.Val33500Ala)
c.97541T>C (p.Val32514Ala)
c.79157T>C (p.Val26386Ala)
c.100652T>C (p.Val33551Ala)
c.100649T>C (p.Val33550Ala)
c.100082T>C (p.Val33361Ala)
c.97424T>C (p.Val32475Ala)
c.97343T>C (p.Val32448Ala)
c.79106T>C (p.Val26369Ala)
c.68960T>C (p.Val22987Ala)
 ClinVar dbSNP gnomAD v4
2g.178530404A>TCA349406601TTN,TTN-AS1c.98507T>A (p.Val32836Glu)
c.79592T>A (p.Val26531Glu)
c.79391T>A (p.Val26464Glu)
c.79016T>A (p.Val26339Glu)
c.106211T>A (p.Val35404Glu)
c.101288T>A (p.Val33763Glu)
n.446+6768A>T
n.220-5328A>T
c.105308T>A (p.Val35103Glu)
c.79202T>A (p.Val26401Glu)
c.79061T>A (p.Val26354Glu)
c.105104T>A (p.Val35035Glu)
c.100502T>A (p.Val33501Glu)
c.100499T>A (p.Val33500Glu)
c.97541T>A (p.Val32514Glu)
c.79157T>A (p.Val26386Glu)
c.100652T>A (p.Val33551Glu)
c.100649T>A (p.Val33550Glu)
c.100082T>A (p.Val33361Glu)
c.97424T>A (p.Val32475Glu)
c.97343T>A (p.Val32448Glu)
c.79106T>A (p.Val26369Glu)
c.68960T>A (p.Val22987Glu)
 dbSNP
2g.178530405C>ACA349406602TTN,TTN-AS1c.98506G>T (p.Val32836Leu)
c.79591G>T (p.Val26531Leu)
c.79390G>T (p.Val26464Leu)
c.79015G>T (p.Val26339Leu)
c.106210G>T (p.Val35404Leu)
c.101287G>T (p.Val33763Leu)
n.446+6769C>A
n.220-5327C>A
c.105307G>T (p.Val35103Leu)
c.79201G>T (p.Val26401Leu)
c.79060G>T (p.Val26354Leu)
c.105103G>T (p.Val35035Leu)
c.100501G>T (p.Val33501Leu)
c.100498G>T (p.Val33500Leu)
c.97540G>T (p.Val32514Leu)
c.79156G>T (p.Val26386Leu)
c.100651G>T (p.Val33551Leu)
c.100648G>T (p.Val33550Leu)
c.100081G>T (p.Val33361Leu)
c.97423G>T (p.Val32475Leu)
c.97342G>T (p.Val32448Leu)
c.79105G>T (p.Val26369Leu)
c.68959G>T (p.Val22987Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178530405C=CA1310514603TTN,TTN-AS1c.98506G= (p.Val32836=)
c.79591G= (p.Val26531=)
c.79390G= (p.Val26464=)
c.79015G= (p.Val26339=)
c.106210G= (p.Val35404=)
c.101287G= (p.Val33763=)
n.446+6769C=
n.220-5327C=
c.105307G= (p.Val35103=)
c.79201G= (p.Val26401=)
c.79060G= (p.Val26354=)
c.105103G= (p.Val35035=)
c.100501G= (p.Val33501=)
c.100498G= (p.Val33500=)
c.97540G= (p.Val32514=)
c.79156G= (p.Val26386=)
c.100651G= (p.Val33551=)
c.100648G= (p.Val33550=)
c.100081G= (p.Val33361=)
c.97423G= (p.Val32475=)
c.97342G= (p.Val32448=)
c.79105G= (p.Val26369=)
c.68959G= (p.Val22987=)
2g.178530405C>GCA349406603TTN,TTN-AS1c.98506G>C (p.Val32836Leu)
c.79591G>C (p.Val26531Leu)
c.79390G>C (p.Val26464Leu)
c.79015G>C (p.Val26339Leu)
c.106210G>C (p.Val35404Leu)
c.101287G>C (p.Val33763Leu)
n.446+6769C>G
n.220-5327C>G
c.105307G>C (p.Val35103Leu)
c.79201G>C (p.Val26401Leu)
c.79060G>C (p.Val26354Leu)
c.105103G>C (p.Val35035Leu)
c.100501G>C (p.Val33501Leu)
c.100498G>C (p.Val33500Leu)
c.97540G>C (p.Val32514Leu)
c.79156G>C (p.Val26386Leu)
c.100651G>C (p.Val33551Leu)
c.100648G>C (p.Val33550Leu)
c.100081G>C (p.Val33361Leu)
c.97423G>C (p.Val32475Leu)
c.97342G>C (p.Val32448Leu)
c.79105G>C (p.Val26369Leu)
c.68959G>C (p.Val22987Leu)
2g.178530405C>TCA1985146TTN,TTN-AS1c.98506G>A (p.Val32836Ile)
c.79591G>A (p.Val26531Ile)
c.79390G>A (p.Val26464Ile)
c.79015G>A (p.Val26339Ile)
c.106210G>A (p.Val35404Ile)
c.101287G>A (p.Val33763Ile)
n.446+6769C>T
n.220-5327C>T
c.105307G>A (p.Val35103Ile)
c.79201G>A (p.Val26401Ile)
c.79060G>A (p.Val26354Ile)
c.105103G>A (p.Val35035Ile)
c.100501G>A (p.Val33501Ile)
c.100498G>A (p.Val33500Ile)
c.97540G>A (p.Val32514Ile)
c.79156G>A (p.Val26386Ile)
c.100651G>A (p.Val33551Ile)
c.100648G>A (p.Val33550Ile)
c.100081G>A (p.Val33361Ile)
c.97423G>A (p.Val32475Ile)
c.97342G>A (p.Val32448Ile)
c.79105G>A (p.Val26369Ile)
c.68959G>A (p.Val22987Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530406T>ACA430235288TTN,TTN-AS1c.98505A>T (p.Thr32835=)
c.79590A>T (p.Thr26530=)
c.79389A>T (p.Thr26463=)
c.79014A>T (p.Thr26338=)
c.106209A>T (p.Thr35403=)
c.101286A>T (p.Thr33762=)
n.446+6770T>A
n.220-5326T>A
c.105306A>T (p.Thr35102=)
c.79200A>T (p.Thr26400=)
c.79059A>T (p.Thr26353=)
c.105102A>T (p.Thr35034=)
c.100500A>T (p.Thr33500=)
c.100497A>T (p.Thr33499=)
c.97539A>T (p.Thr32513=)
c.79155A>T (p.Thr26385=)
c.100650A>T (p.Thr33550=)
c.100647A>T (p.Thr33549=)
c.100080A>T (p.Thr33360=)
c.97422A>T (p.Thr32474=)
c.97341A>T (p.Thr32447=)
c.79104A>T (p.Thr26368=)
c.68958A>T (p.Thr22986=)
2g.178530406T>CCA430235290TTN,TTN-AS1c.98505A>G (p.Thr32835=)
c.79590A>G (p.Thr26530=)
c.79389A>G (p.Thr26463=)
c.79014A>G (p.Thr26338=)
c.106209A>G (p.Thr35403=)
c.101286A>G (p.Thr33762=)
n.446+6770T>C
n.220-5326T>C
c.105306A>G (p.Thr35102=)
c.79200A>G (p.Thr26400=)
c.79059A>G (p.Thr26353=)
c.105102A>G (p.Thr35034=)
c.100500A>G (p.Thr33500=)
c.100497A>G (p.Thr33499=)
c.97539A>G (p.Thr32513=)
c.79155A>G (p.Thr26385=)
c.100650A>G (p.Thr33550=)
c.100647A>G (p.Thr33549=)
c.100080A>G (p.Thr33360=)
c.97422A>G (p.Thr32474=)
c.97341A>G (p.Thr32447=)
c.79104A>G (p.Thr26368=)
c.68958A>G (p.Thr22986=)
 gnomAD v4
2g.178530406T>GCA430235291TTN,TTN-AS1c.98505A>C (p.Thr32835=)
c.79590A>C (p.Thr26530=)
c.79389A>C (p.Thr26463=)
c.79014A>C (p.Thr26338=)
c.106209A>C (p.Thr35403=)
c.101286A>C (p.Thr33762=)
n.446+6770T>G
n.220-5326T>G
c.105306A>C (p.Thr35102=)
c.79200A>C (p.Thr26400=)
c.79059A>C (p.Thr26353=)
c.105102A>C (p.Thr35034=)
c.100500A>C (p.Thr33500=)
c.100497A>C (p.Thr33499=)
c.97539A>C (p.Thr32513=)
c.79155A>C (p.Thr26385=)
c.100650A>C (p.Thr33550=)
c.100647A>C (p.Thr33549=)
c.100080A>C (p.Thr33360=)
c.97422A>C (p.Thr32474=)
c.97341A>C (p.Thr32447=)
c.79104A>C (p.Thr26368=)
c.68958A>C (p.Thr22986=)
2g.178530406dupCA2586970736TTN,TTN-AS1c.98505dup (p.Val32836SerfsTer6)
c.79590dup (p.Val26531SerfsTer6)
c.79389dup (p.Val26464SerfsTer6)
c.79014dup (p.Val26339SerfsTer6)
c.106209dup (p.Val35404SerfsTer6)
c.101286dup (p.Val33763SerfsTer6)
n.446+6770dup
n.220-5326dup
c.105306dup (p.Val35103SerfsTer6)
c.79200dup (p.Val26401SerfsTer6)
c.79059dup (p.Val26354SerfsTer6)
c.105102dup (p.Val35035SerfsTer6)
c.100500dup (p.Val33501SerfsTer6)
c.100497dup (p.Val33500SerfsTer6)
c.97539dup (p.Val32514SerfsTer6)
c.79155dup (p.Val26386SerfsTer6)
c.100650dup (p.Val33551SerfsTer6)
c.100647dup (p.Val33550SerfsTer6)
c.100080dup (p.Val33361SerfsTer6)
c.97422dup (p.Val32475SerfsTer6)
c.97341dup (p.Val32448SerfsTer6)
c.79104dup (p.Val26369SerfsTer6)
c.68958dup (p.Val22987SerfsTer6)
2g.178530407G>ACA349406604TTN,TTN-AS1c.98504C>T (p.Thr32835Ile)
c.79589C>T (p.Thr26530Ile)
c.79388C>T (p.Thr26463Ile)
c.79013C>T (p.Thr26338Ile)
c.106208C>T (p.Thr35403Ile)
c.101285C>T (p.Thr33762Ile)
n.446+6771G>A
n.220-5325G>A
c.105305C>T (p.Thr35102Ile)
c.79199C>T (p.Thr26400Ile)
c.79058C>T (p.Thr26353Ile)
c.105101C>T (p.Thr35034Ile)
c.100499C>T (p.Thr33500Ile)
c.100496C>T (p.Thr33499Ile)
c.97538C>T (p.Thr32513Ile)
c.79154C>T (p.Thr26385Ile)
c.100649C>T (p.Thr33550Ile)
c.100646C>T (p.Thr33549Ile)
c.100079C>T (p.Thr33360Ile)
c.97421C>T (p.Thr32474Ile)
c.97340C>T (p.Thr32447Ile)
c.79103C>T (p.Thr26368Ile)
c.68957C>T (p.Thr22986Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178530407G>CCA349406605TTN,TTN-AS1c.98504C>G (p.Thr32835Arg)
c.79589C>G (p.Thr26530Arg)
c.79388C>G (p.Thr26463Arg)
c.79013C>G (p.Thr26338Arg)
c.106208C>G (p.Thr35403Arg)
c.101285C>G (p.Thr33762Arg)
n.446+6771G>C
n.220-5325G>C
c.105305C>G (p.Thr35102Arg)
c.79199C>G (p.Thr26400Arg)
c.79058C>G (p.Thr26353Arg)
c.105101C>G (p.Thr35034Arg)
c.100499C>G (p.Thr33500Arg)
c.100496C>G (p.Thr33499Arg)
c.97538C>G (p.Thr32513Arg)
c.79154C>G (p.Thr26385Arg)
c.100649C>G (p.Thr33550Arg)
c.100646C>G (p.Thr33549Arg)
c.100079C>G (p.Thr33360Arg)
c.97421C>G (p.Thr32474Arg)
c.97340C>G (p.Thr32447Arg)
c.79103C>G (p.Thr26368Arg)
c.68957C>G (p.Thr22986Arg)
2g.178530407G=CA1310514604TTN,TTN-AS1c.98504C= (p.Thr32835=)
c.79589C= (p.Thr26530=)
c.79388C= (p.Thr26463=)
c.79013C= (p.Thr26338=)
c.106208C= (p.Thr35403=)
c.101285C= (p.Thr33762=)
n.446+6771G=
n.220-5325G=
c.105305C= (p.Thr35102=)
c.79199C= (p.Thr26400=)
c.79058C= (p.Thr26353=)
c.105101C= (p.Thr35034=)
c.100499C= (p.Thr33500=)
c.100496C= (p.Thr33499=)
c.97538C= (p.Thr32513=)
c.79154C= (p.Thr26385=)
c.100649C= (p.Thr33550=)
c.100646C= (p.Thr33549=)
c.100079C= (p.Thr33360=)
c.97421C= (p.Thr32474=)
c.97340C= (p.Thr32447=)
c.79103C= (p.Thr26368=)
c.68957C= (p.Thr22986=)
2g.178530407G>TCA349406606TTN,TTN-AS1c.98504C>A (p.Thr32835Lys)
c.79589C>A (p.Thr26530Lys)
c.79388C>A (p.Thr26463Lys)
c.79013C>A (p.Thr26338Lys)
c.106208C>A (p.Thr35403Lys)
c.101285C>A (p.Thr33762Lys)
n.446+6771G>T
n.220-5325G>T
c.105305C>A (p.Thr35102Lys)
c.79199C>A (p.Thr26400Lys)
c.79058C>A (p.Thr26353Lys)
c.105101C>A (p.Thr35034Lys)
c.100499C>A (p.Thr33500Lys)
c.100496C>A (p.Thr33499Lys)
c.97538C>A (p.Thr32513Lys)
c.79154C>A (p.Thr26385Lys)
c.100649C>A (p.Thr33550Lys)
c.100646C>A (p.Thr33549Lys)
c.100079C>A (p.Thr33360Lys)
c.97421C>A (p.Thr32474Lys)
c.97340C>A (p.Thr32447Lys)
c.79103C>A (p.Thr26368Lys)
c.68957C>A (p.Thr22986Lys)
2g.178530408T>ACA349406609TTN,TTN-AS1c.98503A>T (p.Thr32835Ser)
c.79588A>T (p.Thr26530Ser)
c.79387A>T (p.Thr26463Ser)
c.79012A>T (p.Thr26338Ser)
c.106207A>T (p.Thr35403Ser)
c.101284A>T (p.Thr33762Ser)
n.446+6772T>A
n.220-5324T>A
c.105304A>T (p.Thr35102Ser)
c.79198A>T (p.Thr26400Ser)
c.79057A>T (p.Thr26353Ser)
c.105100A>T (p.Thr35034Ser)
c.100498A>T (p.Thr33500Ser)
c.100495A>T (p.Thr33499Ser)
c.97537A>T (p.Thr32513Ser)
c.79153A>T (p.Thr26385Ser)
c.100648A>T (p.Thr33550Ser)
c.100645A>T (p.Thr33549Ser)
c.100078A>T (p.Thr33360Ser)
c.97420A>T (p.Thr32474Ser)
c.97339A>T (p.Thr32447Ser)
c.79102A>T (p.Thr26368Ser)
c.68956A>T (p.Thr22986Ser)
2g.178530408T>CCA349406611TTN,TTN-AS1c.98503A>G (p.Thr32835Ala)
c.79588A>G (p.Thr26530Ala)
c.79387A>G (p.Thr26463Ala)
c.79012A>G (p.Thr26338Ala)
c.106207A>G (p.Thr35403Ala)
c.101284A>G (p.Thr33762Ala)
n.446+6772T>C
n.220-5324T>C
c.105304A>G (p.Thr35102Ala)
c.79198A>G (p.Thr26400Ala)
c.79057A>G (p.Thr26353Ala)
c.105100A>G (p.Thr35034Ala)
c.100498A>G (p.Thr33500Ala)
c.100495A>G (p.Thr33499Ala)
c.97537A>G (p.Thr32513Ala)
c.79153A>G (p.Thr26385Ala)
c.100648A>G (p.Thr33550Ala)
c.100645A>G (p.Thr33549Ala)
c.100078A>G (p.Thr33360Ala)
c.97420A>G (p.Thr32474Ala)
c.97339A>G (p.Thr32447Ala)
c.79102A>G (p.Thr26368Ala)
c.68956A>G (p.Thr22986Ala)
2g.178530408T>GCA349406613TTN,TTN-AS1c.98503A>C (p.Thr32835Pro)
c.79588A>C (p.Thr26530Pro)
c.79387A>C (p.Thr26463Pro)
c.79012A>C (p.Thr26338Pro)
c.106207A>C (p.Thr35403Pro)
c.101284A>C (p.Thr33762Pro)
n.446+6772T>G
n.220-5324T>G
c.105304A>C (p.Thr35102Pro)
c.79198A>C (p.Thr26400Pro)
c.79057A>C (p.Thr26353Pro)
c.105100A>C (p.Thr35034Pro)
c.100498A>C (p.Thr33500Pro)
c.100495A>C (p.Thr33499Pro)
c.97537A>C (p.Thr32513Pro)
c.79153A>C (p.Thr26385Pro)
c.100648A>C (p.Thr33550Pro)
c.100645A>C (p.Thr33549Pro)
c.100078A>C (p.Thr33360Pro)
c.97420A>C (p.Thr32474Pro)
c.97339A>C (p.Thr32447Pro)
c.79102A>C (p.Thr26368Pro)
c.68956A>C (p.Thr22986Pro)
 gnomAD v4
2g.178530409T>ACA430235293TTN,TTN-AS1c.98502A>T (p.Ser32834=)
c.79587A>T (p.Ser26529=)
c.79386A>T (p.Ser26462=)
c.79011A>T (p.Ser26337=)
c.106206A>T (p.Ser35402=)
c.101283A>T (p.Ser33761=)
n.446+6773T>A
n.220-5323T>A
c.105303A>T (p.Ser35101=)
c.79197A>T (p.Ser26399=)
c.79056A>T (p.Ser26352=)
c.105099A>T (p.Ser35033=)
c.100497A>T (p.Ser33499=)
c.100494A>T (p.Ser33498=)
c.97536A>T (p.Ser32512=)
c.79152A>T (p.Ser26384=)
c.100647A>T (p.Ser33549=)
c.100644A>T (p.Ser33548=)
c.100077A>T (p.Ser33359=)
c.97419A>T (p.Ser32473=)
c.97338A>T (p.Ser32446=)
c.79101A>T (p.Ser26367=)
c.68955A>T (p.Ser22985=)
2g.178530409T>CCA430235294TTN,TTN-AS1c.98502A>G (p.Ser32834=)
c.79587A>G (p.Ser26529=)
c.79386A>G (p.Ser26462=)
c.79011A>G (p.Ser26337=)
c.106206A>G (p.Ser35402=)
c.101283A>G (p.Ser33761=)
n.446+6773T>C
n.220-5323T>C
c.105303A>G (p.Ser35101=)
c.79197A>G (p.Ser26399=)
c.79056A>G (p.Ser26352=)
c.105099A>G (p.Ser35033=)
c.100497A>G (p.Ser33499=)
c.100494A>G (p.Ser33498=)
c.97536A>G (p.Ser32512=)
c.79152A>G (p.Ser26384=)
c.100647A>G (p.Ser33549=)
c.100644A>G (p.Ser33548=)
c.100077A>G (p.Ser33359=)
c.97419A>G (p.Ser32473=)
c.97338A>G (p.Ser32446=)
c.79101A>G (p.Ser26367=)
c.68955A>G (p.Ser22985=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178530409T>GCA430235295TTN,TTN-AS1c.98502A>C (p.Ser32834=)
c.79587A>C (p.Ser26529=)
c.79386A>C (p.Ser26462=)
c.79011A>C (p.Ser26337=)
c.106206A>C (p.Ser35402=)
c.101283A>C (p.Ser33761=)
n.446+6773T>G
n.220-5323T>G
c.105303A>C (p.Ser35101=)
c.79197A>C (p.Ser26399=)
c.79056A>C (p.Ser26352=)
c.105099A>C (p.Ser35033=)
c.100497A>C (p.Ser33499=)
c.100494A>C (p.Ser33498=)
c.97536A>C (p.Ser32512=)
c.79152A>C (p.Ser26384=)
c.100647A>C (p.Ser33549=)
c.100644A>C (p.Ser33548=)
c.100077A>C (p.Ser33359=)
c.97419A>C (p.Ser32473=)
c.97338A>C (p.Ser32446=)
c.79101A>C (p.Ser26367=)
c.68955A>C (p.Ser22985=)
 gnomAD v4
2g.178530409T=CA1310514606TTN,TTN-AS1c.98502A= (p.Ser32834=)
c.79587A= (p.Ser26529=)
c.79386A= (p.Ser26462=)
c.79011A= (p.Ser26337=)
c.106206A= (p.Ser35402=)
c.101283A= (p.Ser33761=)
n.446+6773T=
n.220-5323T=
c.105303A= (p.Ser35101=)
c.79197A= (p.Ser26399=)
c.79056A= (p.Ser26352=)
c.105099A= (p.Ser35033=)
c.100497A= (p.Ser33499=)
c.100494A= (p.Ser33498=)
c.97536A= (p.Ser32512=)
c.79152A= (p.Ser26384=)
c.100647A= (p.Ser33549=)
c.100644A= (p.Ser33548=)
c.100077A= (p.Ser33359=)
c.97419A= (p.Ser32473=)
c.97338A= (p.Ser32446=)
c.79101A= (p.Ser26367=)
c.68955A= (p.Ser22985=)
2g.178530410G>ACA349406615TTN,TTN-AS1c.98501C>T (p.Ser32834Leu)
c.79586C>T (p.Ser26529Leu)
c.79385C>T (p.Ser26462Leu)
c.79010C>T (p.Ser26337Leu)
c.106205C>T (p.Ser35402Leu)
c.101282C>T (p.Ser33761Leu)
n.446+6774G>A
n.220-5322G>A
c.105302C>T (p.Ser35101Leu)
c.79196C>T (p.Ser26399Leu)
c.79055C>T (p.Ser26352Leu)
c.105098C>T (p.Ser35033Leu)
c.100496C>T (p.Ser33499Leu)
c.100493C>T (p.Ser33498Leu)
c.97535C>T (p.Ser32512Leu)
c.79151C>T (p.Ser26384Leu)
c.100646C>T (p.Ser33549Leu)
c.100643C>T (p.Ser33548Leu)
c.100076C>T (p.Ser33359Leu)
c.97418C>T (p.Ser32473Leu)
c.97337C>T (p.Ser32446Leu)
c.79100C>T (p.Ser26367Leu)
c.68954C>T (p.Ser22985Leu)
 COSMIC COSMIC COSMIC COSMIC
2g.178530410G>CCA349406617TTN,TTN-AS1c.98501C>G (p.Ser32834Ter)
c.79586C>G (p.Ser26529Ter)
c.79385C>G (p.Ser26462Ter)
c.79010C>G (p.Ser26337Ter)
c.106205C>G (p.Ser35402Ter)
c.101282C>G (p.Ser33761Ter)
n.446+6774G>C
n.220-5322G>C
c.105302C>G (p.Ser35101Ter)
c.79196C>G (p.Ser26399Ter)
c.79055C>G (p.Ser26352Ter)
c.105098C>G (p.Ser35033Ter)
c.100496C>G (p.Ser33499Ter)
c.100493C>G (p.Ser33498Ter)
c.97535C>G (p.Ser32512Ter)
c.79151C>G (p.Ser26384Ter)
c.100646C>G (p.Ser33549Ter)
c.100643C>G (p.Ser33548Ter)
c.100076C>G (p.Ser33359Ter)
c.97418C>G (p.Ser32473Ter)
c.97337C>G (p.Ser32446Ter)
c.79100C>G (p.Ser26367Ter)
c.68954C>G (p.Ser22985Ter)
2g.178530410G>TCA349406619TTN,TTN-AS1c.98501C>A (p.Ser32834Ter)
c.79586C>A (p.Ser26529Ter)
c.79385C>A (p.Ser26462Ter)
c.79010C>A (p.Ser26337Ter)
c.106205C>A (p.Ser35402Ter)
c.101282C>A (p.Ser33761Ter)
n.446+6774G>T
n.220-5322G>T
c.105302C>A (p.Ser35101Ter)
c.79196C>A (p.Ser26399Ter)
c.79055C>A (p.Ser26352Ter)
c.105098C>A (p.Ser35033Ter)
c.100496C>A (p.Ser33499Ter)
c.100493C>A (p.Ser33498Ter)
c.97535C>A (p.Ser32512Ter)
c.79151C>A (p.Ser26384Ter)
c.100646C>A (p.Ser33549Ter)
c.100643C>A (p.Ser33548Ter)
c.100076C>A (p.Ser33359Ter)
c.97418C>A (p.Ser32473Ter)
c.97337C>A (p.Ser32446Ter)
c.79100C>A (p.Ser26367Ter)
c.68954C>A (p.Ser22985Ter)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178530411A>CCA349406621TTN,TTN-AS1c.98500T>G (p.Ser32834Ala)
c.79585T>G (p.Ser26529Ala)
c.79384T>G (p.Ser26462Ala)
c.79009T>G (p.Ser26337Ala)
c.106204T>G (p.Ser35402Ala)
c.101281T>G (p.Ser33761Ala)
n.446+6775A>C
n.220-5321A>C
c.105301T>G (p.Ser35101Ala)
c.79195T>G (p.Ser26399Ala)
c.79054T>G (p.Ser26352Ala)
c.105097T>G (p.Ser35033Ala)
c.100495T>G (p.Ser33499Ala)
c.100492T>G (p.Ser33498Ala)
c.97534T>G (p.Ser32512Ala)
c.79150T>G (p.Ser26384Ala)
c.100645T>G (p.Ser33549Ala)
c.100642T>G (p.Ser33548Ala)
c.100075T>G (p.Ser33359Ala)
c.97417T>G (p.Ser32473Ala)
c.97336T>G (p.Ser32446Ala)
c.79099T>G (p.Ser26367Ala)
c.68953T>G (p.Ser22985Ala)
2g.178530411A>GCA349406622TTN,TTN-AS1c.98500T>C (p.Ser32834Pro)
c.79585T>C (p.Ser26529Pro)
c.79384T>C (p.Ser26462Pro)
c.79009T>C (p.Ser26337Pro)
c.106204T>C (p.Ser35402Pro)
c.101281T>C (p.Ser33761Pro)
n.446+6775A>G
n.220-5321A>G
c.105301T>C (p.Ser35101Pro)
c.79195T>C (p.Ser26399Pro)
c.79054T>C (p.Ser26352Pro)
c.105097T>C (p.Ser35033Pro)
c.100495T>C (p.Ser33499Pro)
c.100492T>C (p.Ser33498Pro)
c.97534T>C (p.Ser32512Pro)
c.79150T>C (p.Ser26384Pro)
c.100645T>C (p.Ser33549Pro)
c.100642T>C (p.Ser33548Pro)
c.100075T>C (p.Ser33359Pro)
c.97417T>C (p.Ser32473Pro)
c.97336T>C (p.Ser32446Pro)
c.79099T>C (p.Ser26367Pro)
c.68953T>C (p.Ser22985Pro)
2g.178530411A>TCA349406624TTN,TTN-AS1c.98500T>A (p.Ser32834Thr)
c.79585T>A (p.Ser26529Thr)
c.79384T>A (p.Ser26462Thr)
c.79009T>A (p.Ser26337Thr)
c.106204T>A (p.Ser35402Thr)
c.101281T>A (p.Ser33761Thr)
n.446+6775A>T
n.220-5321A>T
c.105301T>A (p.Ser35101Thr)
c.79195T>A (p.Ser26399Thr)
c.79054T>A (p.Ser26352Thr)
c.105097T>A (p.Ser35033Thr)
c.100495T>A (p.Ser33499Thr)
c.100492T>A (p.Ser33498Thr)
c.97534T>A (p.Ser32512Thr)
c.79150T>A (p.Ser26384Thr)
c.100645T>A (p.Ser33549Thr)
c.100642T>A (p.Ser33548Thr)
c.100075T>A (p.Ser33359Thr)
c.97417T>A (p.Ser32473Thr)
c.97336T>A (p.Ser32446Thr)
c.79099T>A (p.Ser26367Thr)
c.68953T>A (p.Ser22985Thr)

Number of alleles fetched