Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178567192C>ACA349600511TTN,TTN-AS1c.71236G>T (p.Asp23746Tyr)
c.52321G>T (p.Asp17441Tyr)
c.52120G>T (p.Asp17374Tyr)
c.51745G>T (p.Asp17249Tyr)
c.78940G>T (p.Asp26314Tyr)
c.74017G>T (p.Asp24673Tyr)
n.447-4108C>A
n.2044-15380C>A
c.78037G>T (p.Asp26013Tyr)
c.51931G>T (p.Asp17311Tyr)
c.51790G>T (p.Asp17264Tyr)
c.77833G>T (p.Asp25945Tyr)
c.73231G>T (p.Asp24411Tyr)
c.73228G>T (p.Asp24410Tyr)
c.70270G>T (p.Asp23424Tyr)
c.51886G>T (p.Asp17296Tyr)
c.73381G>T (p.Asp24461Tyr)
c.73378G>T (p.Asp24460Tyr)
c.72811G>T (p.Asp24271Tyr)
c.70153G>T (p.Asp23385Tyr)
c.70072G>T (p.Asp23358Tyr)
c.51835G>T (p.Asp17279Tyr)
c.41689G>T (p.Asp13897Tyr)
2g.178567192C>GCA349600509TTN,TTN-AS1c.71236G>C (p.Asp23746His)
c.52321G>C (p.Asp17441His)
c.52120G>C (p.Asp17374His)
c.51745G>C (p.Asp17249His)
c.78940G>C (p.Asp26314His)
c.74017G>C (p.Asp24673His)
n.447-4108C>G
n.2044-15380C>G
c.78037G>C (p.Asp26013His)
c.51931G>C (p.Asp17311His)
c.51790G>C (p.Asp17264His)
c.77833G>C (p.Asp25945His)
c.73231G>C (p.Asp24411His)
c.73228G>C (p.Asp24410His)
c.70270G>C (p.Asp23424His)
c.51886G>C (p.Asp17296His)
c.73381G>C (p.Asp24461His)
c.73378G>C (p.Asp24460His)
c.72811G>C (p.Asp24271His)
c.70153G>C (p.Asp23385His)
c.70072G>C (p.Asp23358His)
c.51835G>C (p.Asp17279His)
c.41689G>C (p.Asp13897His)
2g.178567192C>TCA349600510TTN,TTN-AS1c.71236G>A (p.Asp23746Asn)
c.52321G>A (p.Asp17441Asn)
c.52120G>A (p.Asp17374Asn)
c.51745G>A (p.Asp17249Asn)
c.78940G>A (p.Asp26314Asn)
c.74017G>A (p.Asp24673Asn)
n.447-4108C>T
n.2044-15380C>T
c.78037G>A (p.Asp26013Asn)
c.51931G>A (p.Asp17311Asn)
c.51790G>A (p.Asp17264Asn)
c.77833G>A (p.Asp25945Asn)
c.73231G>A (p.Asp24411Asn)
c.73228G>A (p.Asp24410Asn)
c.70270G>A (p.Asp23424Asn)
c.51886G>A (p.Asp17296Asn)
c.73381G>A (p.Asp24461Asn)
c.73378G>A (p.Asp24460Asn)
c.72811G>A (p.Asp24271Asn)
c.70153G>A (p.Asp23385Asn)
c.70072G>A (p.Asp23358Asn)
c.51835G>A (p.Asp17279Asn)
c.41689G>A (p.Asp13897Asn)
 gnomAD v4
2g.178567193T>ACA349600512TTN,TTN-AS1c.71235A>T (p.Gln23745His)
c.52320A>T (p.Gln17440His)
c.52119A>T (p.Gln17373His)
c.51744A>T (p.Gln17248His)
c.78939A>T (p.Gln26313His)
c.74016A>T (p.Gln24672His)
n.447-4107T>A
n.2044-15379T>A
c.78036A>T (p.Gln26012His)
c.51930A>T (p.Gln17310His)
c.51789A>T (p.Gln17263His)
c.77832A>T (p.Gln25944His)
c.73230A>T (p.Gln24410His)
c.73227A>T (p.Gln24409His)
c.70269A>T (p.Gln23423His)
c.51885A>T (p.Gln17295His)
c.73380A>T (p.Gln24460His)
c.73377A>T (p.Gln24459His)
c.72810A>T (p.Gln24270His)
c.70152A>T (p.Gln23384His)
c.70071A>T (p.Gln23357His)
c.51834A>T (p.Gln17278His)
c.41688A>T (p.Gln13896His)
2g.178567193T>CCA430252835TTN,TTN-AS1c.71235A>G (p.Gln23745=)
c.52320A>G (p.Gln17440=)
c.52119A>G (p.Gln17373=)
c.51744A>G (p.Gln17248=)
c.78939A>G (p.Gln26313=)
c.74016A>G (p.Gln24672=)
n.447-4107T>C
n.2044-15379T>C
c.78036A>G (p.Gln26012=)
c.51930A>G (p.Gln17310=)
c.51789A>G (p.Gln17263=)
c.77832A>G (p.Gln25944=)
c.73230A>G (p.Gln24410=)
c.73227A>G (p.Gln24409=)
c.70269A>G (p.Gln23423=)
c.51885A>G (p.Gln17295=)
c.73380A>G (p.Gln24460=)
c.73377A>G (p.Gln24459=)
c.72810A>G (p.Gln24270=)
c.70152A>G (p.Gln23384=)
c.70071A>G (p.Gln23357=)
c.51834A>G (p.Gln17278=)
c.41688A>G (p.Gln13896=)
 dbSNP gnomAD v2 gnomAD v4
2g.178567193T>GCA349600514TTN,TTN-AS1c.71235A>C (p.Gln23745His)
c.52320A>C (p.Gln17440His)
c.52119A>C (p.Gln17373His)
c.51744A>C (p.Gln17248His)
c.78939A>C (p.Gln26313His)
c.74016A>C (p.Gln24672His)
n.447-4107T>G
n.2044-15379T>G
c.78036A>C (p.Gln26012His)
c.51930A>C (p.Gln17310His)
c.51789A>C (p.Gln17263His)
c.77832A>C (p.Gln25944His)
c.73230A>C (p.Gln24410His)
c.73227A>C (p.Gln24409His)
c.70269A>C (p.Gln23423His)
c.51885A>C (p.Gln17295His)
c.73380A>C (p.Gln24460His)
c.73377A>C (p.Gln24459His)
c.72810A>C (p.Gln24270His)
c.70152A>C (p.Gln23384His)
c.70071A>C (p.Gln23357His)
c.51834A>C (p.Gln17278His)
c.41688A>C (p.Gln13896His)
2g.178567193T=CA1310529826TTN,TTN-AS1c.71235A= (p.Gln23745=)
c.52320A= (p.Gln17440=)
c.52119A= (p.Gln17373=)
c.51744A= (p.Gln17248=)
c.78939A= (p.Gln26313=)
c.74016A= (p.Gln24672=)
n.447-4107T=
n.2044-15379T=
c.78036A= (p.Gln26012=)
c.51930A= (p.Gln17310=)
c.51789A= (p.Gln17263=)
c.77832A= (p.Gln25944=)
c.73230A= (p.Gln24410=)
c.73227A= (p.Gln24409=)
c.70269A= (p.Gln23423=)
c.51885A= (p.Gln17295=)
c.73380A= (p.Gln24460=)
c.73377A= (p.Gln24459=)
c.72810A= (p.Gln24270=)
c.70152A= (p.Gln23384=)
c.70071A= (p.Gln23357=)
c.51834A= (p.Gln17278=)
c.41688A= (p.Gln13896=)
2g.178567194T>ACA349600515TTN,TTN-AS1c.71234A>T (p.Gln23745Leu)
c.52319A>T (p.Gln17440Leu)
c.52118A>T (p.Gln17373Leu)
c.51743A>T (p.Gln17248Leu)
c.78938A>T (p.Gln26313Leu)
c.74015A>T (p.Gln24672Leu)
n.447-4106T>A
n.2044-15378T>A
c.78035A>T (p.Gln26012Leu)
c.51929A>T (p.Gln17310Leu)
c.51788A>T (p.Gln17263Leu)
c.77831A>T (p.Gln25944Leu)
c.73229A>T (p.Gln24410Leu)
c.73226A>T (p.Gln24409Leu)
c.70268A>T (p.Gln23423Leu)
c.51884A>T (p.Gln17295Leu)
c.73379A>T (p.Gln24460Leu)
c.73376A>T (p.Gln24459Leu)
c.72809A>T (p.Gln24270Leu)
c.70151A>T (p.Gln23384Leu)
c.70070A>T (p.Gln23357Leu)
c.51833A>T (p.Gln17278Leu)
c.41687A>T (p.Gln13896Leu)
2g.178567194T>CCA349600516TTN,TTN-AS1c.71234A>G (p.Gln23745Arg)
c.52319A>G (p.Gln17440Arg)
c.52118A>G (p.Gln17373Arg)
c.51743A>G (p.Gln17248Arg)
c.78938A>G (p.Gln26313Arg)
c.74015A>G (p.Gln24672Arg)
n.447-4106T>C
n.2044-15378T>C
c.78035A>G (p.Gln26012Arg)
c.51929A>G (p.Gln17310Arg)
c.51788A>G (p.Gln17263Arg)
c.77831A>G (p.Gln25944Arg)
c.73229A>G (p.Gln24410Arg)
c.73226A>G (p.Gln24409Arg)
c.70268A>G (p.Gln23423Arg)
c.51884A>G (p.Gln17295Arg)
c.73379A>G (p.Gln24460Arg)
c.73376A>G (p.Gln24459Arg)
c.72809A>G (p.Gln24270Arg)
c.70151A>G (p.Gln23384Arg)
c.70070A>G (p.Gln23357Arg)
c.51833A>G (p.Gln17278Arg)
c.41687A>G (p.Gln13896Arg)
2g.178567194T>GCA349600519TTN,TTN-AS1c.71234A>C (p.Gln23745Pro)
c.52319A>C (p.Gln17440Pro)
c.52118A>C (p.Gln17373Pro)
c.51743A>C (p.Gln17248Pro)
c.78938A>C (p.Gln26313Pro)
c.74015A>C (p.Gln24672Pro)
n.447-4106T>G
n.2044-15378T>G
c.78035A>C (p.Gln26012Pro)
c.51929A>C (p.Gln17310Pro)
c.51788A>C (p.Gln17263Pro)
c.77831A>C (p.Gln25944Pro)
c.73229A>C (p.Gln24410Pro)
c.73226A>C (p.Gln24409Pro)
c.70268A>C (p.Gln23423Pro)
c.51884A>C (p.Gln17295Pro)
c.73379A>C (p.Gln24460Pro)
c.73376A>C (p.Gln24459Pro)
c.72809A>C (p.Gln24270Pro)
c.70151A>C (p.Gln23384Pro)
c.70070A>C (p.Gln23357Pro)
c.51833A>C (p.Gln17278Pro)
c.41687A>C (p.Gln13896Pro)
2g.178567195G>ACA349600521TTN,TTN-AS1c.71233C>T (p.Gln23745Ter)
c.52318C>T (p.Gln17440Ter)
c.52117C>T (p.Gln17373Ter)
c.51742C>T (p.Gln17248Ter)
c.78937C>T (p.Gln26313Ter)
c.74014C>T (p.Gln24672Ter)
n.447-4105G>A
n.2044-15377G>A
c.78034C>T (p.Gln26012Ter)
c.51928C>T (p.Gln17310Ter)
c.51787C>T (p.Gln17263Ter)
c.77830C>T (p.Gln25944Ter)
c.73228C>T (p.Gln24410Ter)
c.73225C>T (p.Gln24409Ter)
c.70267C>T (p.Gln23423Ter)
c.51883C>T (p.Gln17295Ter)
c.73378C>T (p.Gln24460Ter)
c.73375C>T (p.Gln24459Ter)
c.72808C>T (p.Gln24270Ter)
c.70150C>T (p.Gln23384Ter)
c.70069C>T (p.Gln23357Ter)
c.51832C>T (p.Gln17278Ter)
c.41686C>T (p.Gln13896Ter)
2g.178567195G>CCA349600524TTN,TTN-AS1c.71233C>G (p.Gln23745Glu)
c.52318C>G (p.Gln17440Glu)
c.52117C>G (p.Gln17373Glu)
c.51742C>G (p.Gln17248Glu)
c.78937C>G (p.Gln26313Glu)
c.74014C>G (p.Gln24672Glu)
n.447-4105G>C
n.2044-15377G>C
c.78034C>G (p.Gln26012Glu)
c.51928C>G (p.Gln17310Glu)
c.51787C>G (p.Gln17263Glu)
c.77830C>G (p.Gln25944Glu)
c.73228C>G (p.Gln24410Glu)
c.73225C>G (p.Gln24409Glu)
c.70267C>G (p.Gln23423Glu)
c.51883C>G (p.Gln17295Glu)
c.73378C>G (p.Gln24460Glu)
c.73375C>G (p.Gln24459Glu)
c.72808C>G (p.Gln24270Glu)
c.70150C>G (p.Gln23384Glu)
c.70069C>G (p.Gln23357Glu)
c.51832C>G (p.Gln17278Glu)
c.41686C>G (p.Gln13896Glu)
2g.178567195G>TCA349600522TTN,TTN-AS1c.71233C>A (p.Gln23745Lys)
c.52318C>A (p.Gln17440Lys)
c.52117C>A (p.Gln17373Lys)
c.51742C>A (p.Gln17248Lys)
c.78937C>A (p.Gln26313Lys)
c.74014C>A (p.Gln24672Lys)
n.447-4105G>T
n.2044-15377G>T
c.78034C>A (p.Gln26012Lys)
c.51928C>A (p.Gln17310Lys)
c.51787C>A (p.Gln17263Lys)
c.77830C>A (p.Gln25944Lys)
c.73228C>A (p.Gln24410Lys)
c.73225C>A (p.Gln24409Lys)
c.70267C>A (p.Gln23423Lys)
c.51883C>A (p.Gln17295Lys)
c.73378C>A (p.Gln24460Lys)
c.73375C>A (p.Gln24459Lys)
c.72808C>A (p.Gln24270Lys)
c.70150C>A (p.Gln23384Lys)
c.70069C>A (p.Gln23357Lys)
c.51832C>A (p.Gln17278Lys)
c.41686C>A (p.Gln13896Lys)
2g.178567196A>CCA430252840TTN,TTN-AS1c.71232T>G (p.Leu23744=)
c.52317T>G (p.Leu17439=)
c.52116T>G (p.Leu17372=)
c.51741T>G (p.Leu17247=)
c.78936T>G (p.Leu26312=)
c.74013T>G (p.Leu24671=)
n.447-4104A>C
n.2044-15376A>C
c.78033T>G (p.Leu26011=)
c.51927T>G (p.Leu17309=)
c.51786T>G (p.Leu17262=)
c.77829T>G (p.Leu25943=)
c.73227T>G (p.Leu24409=)
c.73224T>G (p.Leu24408=)
c.70266T>G (p.Leu23422=)
c.51882T>G (p.Leu17294=)
c.73377T>G (p.Leu24459=)
c.73374T>G (p.Leu24458=)
c.72807T>G (p.Leu24269=)
c.70149T>G (p.Leu23383=)
c.70068T>G (p.Leu23356=)
c.51831T>G (p.Leu17277=)
c.41685T>G (p.Leu13895=)
2g.178567196A>GCA430252841TTN,TTN-AS1c.71232T>C (p.Leu23744=)
c.52317T>C (p.Leu17439=)
c.52116T>C (p.Leu17372=)
c.51741T>C (p.Leu17247=)
c.78936T>C (p.Leu26312=)
c.74013T>C (p.Leu24671=)
n.447-4104A>G
n.2044-15376A>G
c.78033T>C (p.Leu26011=)
c.51927T>C (p.Leu17309=)
c.51786T>C (p.Leu17262=)
c.77829T>C (p.Leu25943=)
c.73227T>C (p.Leu24409=)
c.73224T>C (p.Leu24408=)
c.70266T>C (p.Leu23422=)
c.51882T>C (p.Leu17294=)
c.73377T>C (p.Leu24459=)
c.73374T>C (p.Leu24458=)
c.72807T>C (p.Leu24269=)
c.70149T>C (p.Leu23383=)
c.70068T>C (p.Leu23356=)
c.51831T>C (p.Leu17277=)
c.41685T>C (p.Leu13895=)
2g.178567196A>TCA430252842TTN,TTN-AS1c.71232T>A (p.Leu23744=)
c.52317T>A (p.Leu17439=)
c.52116T>A (p.Leu17372=)
c.51741T>A (p.Leu17247=)
c.78936T>A (p.Leu26312=)
c.74013T>A (p.Leu24671=)
n.447-4104A>T
n.2044-15376A>T
c.78033T>A (p.Leu26011=)
c.51927T>A (p.Leu17309=)
c.51786T>A (p.Leu17262=)
c.77829T>A (p.Leu25943=)
c.73227T>A (p.Leu24409=)
c.73224T>A (p.Leu24408=)
c.70266T>A (p.Leu23422=)
c.51882T>A (p.Leu17294=)
c.73377T>A (p.Leu24459=)
c.73374T>A (p.Leu24458=)
c.72807T>A (p.Leu24269=)
c.70149T>A (p.Leu23383=)
c.70068T>A (p.Leu23356=)
c.51831T>A (p.Leu17277=)
c.41685T>A (p.Leu13895=)
 gnomAD v4
2g.178567197A>CCA349600527TTN,TTN-AS1c.71231T>G (p.Leu23744Arg)
c.52316T>G (p.Leu17439Arg)
c.52115T>G (p.Leu17372Arg)
c.51740T>G (p.Leu17247Arg)
c.78935T>G (p.Leu26312Arg)
c.74012T>G (p.Leu24671Arg)
n.447-4103A>C
n.2044-15375A>C
c.78032T>G (p.Leu26011Arg)
c.51926T>G (p.Leu17309Arg)
c.51785T>G (p.Leu17262Arg)
c.77828T>G (p.Leu25943Arg)
c.73226T>G (p.Leu24409Arg)
c.73223T>G (p.Leu24408Arg)
c.70265T>G (p.Leu23422Arg)
c.51881T>G (p.Leu17294Arg)
c.73376T>G (p.Leu24459Arg)
c.73373T>G (p.Leu24458Arg)
c.72806T>G (p.Leu24269Arg)
c.70148T>G (p.Leu23383Arg)
c.70067T>G (p.Leu23356Arg)
c.51830T>G (p.Leu17277Arg)
c.41684T>G (p.Leu13895Arg)
2g.178567197A>GCA349600529TTN,TTN-AS1c.71231T>C (p.Leu23744Pro)
c.52316T>C (p.Leu17439Pro)
c.52115T>C (p.Leu17372Pro)
c.51740T>C (p.Leu17247Pro)
c.78935T>C (p.Leu26312Pro)
c.74012T>C (p.Leu24671Pro)
n.447-4103A>G
n.2044-15375A>G
c.78032T>C (p.Leu26011Pro)
c.51926T>C (p.Leu17309Pro)
c.51785T>C (p.Leu17262Pro)
c.77828T>C (p.Leu25943Pro)
c.73226T>C (p.Leu24409Pro)
c.73223T>C (p.Leu24408Pro)
c.70265T>C (p.Leu23422Pro)
c.51881T>C (p.Leu17294Pro)
c.73376T>C (p.Leu24459Pro)
c.73373T>C (p.Leu24458Pro)
c.72806T>C (p.Leu24269Pro)
c.70148T>C (p.Leu23383Pro)
c.70067T>C (p.Leu23356Pro)
c.51830T>C (p.Leu17277Pro)
c.41684T>C (p.Leu13895Pro)
 gnomAD v4
2g.178567197A>TCA349600531TTN,TTN-AS1c.71231T>A (p.Leu23744His)
c.52316T>A (p.Leu17439His)
c.52115T>A (p.Leu17372His)
c.51740T>A (p.Leu17247His)
c.78935T>A (p.Leu26312His)
c.74012T>A (p.Leu24671His)
n.447-4103A>T
n.2044-15375A>T
c.78032T>A (p.Leu26011His)
c.51926T>A (p.Leu17309His)
c.51785T>A (p.Leu17262His)
c.77828T>A (p.Leu25943His)
c.73226T>A (p.Leu24409His)
c.73223T>A (p.Leu24408His)
c.70265T>A (p.Leu23422His)
c.51881T>A (p.Leu17294His)
c.73376T>A (p.Leu24459His)
c.73373T>A (p.Leu24458His)
c.72806T>A (p.Leu24269His)
c.70148T>A (p.Leu23383His)
c.70067T>A (p.Leu23356His)
c.51830T>A (p.Leu17277His)
c.41684T>A (p.Leu13895His)
2g.178567198G>ACA349600532TTN,TTN-AS1c.71230C>T (p.Leu23744Phe)
c.52315C>T (p.Leu17439Phe)
c.52114C>T (p.Leu17372Phe)
c.51739C>T (p.Leu17247Phe)
c.78934C>T (p.Leu26312Phe)
c.74011C>T (p.Leu24671Phe)
n.447-4102G>A
n.2044-15374G>A
c.78031C>T (p.Leu26011Phe)
c.51925C>T (p.Leu17309Phe)
c.51784C>T (p.Leu17262Phe)
c.77827C>T (p.Leu25943Phe)
c.73225C>T (p.Leu24409Phe)
c.73222C>T (p.Leu24408Phe)
c.70264C>T (p.Leu23422Phe)
c.51880C>T (p.Leu17294Phe)
c.73375C>T (p.Leu24459Phe)
c.73372C>T (p.Leu24458Phe)
c.72805C>T (p.Leu24269Phe)
c.70147C>T (p.Leu23383Phe)
c.70066C>T (p.Leu23356Phe)
c.51829C>T (p.Leu17277Phe)
c.41683C>T (p.Leu13895Phe)
 dbSNP
2g.178567198G>CCA349600534TTN,TTN-AS1c.71230C>G (p.Leu23744Val)
c.52315C>G (p.Leu17439Val)
c.52114C>G (p.Leu17372Val)
c.51739C>G (p.Leu17247Val)
c.78934C>G (p.Leu26312Val)
c.74011C>G (p.Leu24671Val)
n.447-4102G>C
n.2044-15374G>C
c.78031C>G (p.Leu26011Val)
c.51925C>G (p.Leu17309Val)
c.51784C>G (p.Leu17262Val)
c.77827C>G (p.Leu25943Val)
c.73225C>G (p.Leu24409Val)
c.73222C>G (p.Leu24408Val)
c.70264C>G (p.Leu23422Val)
c.51880C>G (p.Leu17294Val)
c.73375C>G (p.Leu24459Val)
c.73372C>G (p.Leu24458Val)
c.72805C>G (p.Leu24269Val)
c.70147C>G (p.Leu23383Val)
c.70066C>G (p.Leu23356Val)
c.51829C>G (p.Leu17277Val)
c.41683C>G (p.Leu13895Val)
2g.178567198G=CA1310529827TTN,TTN-AS1c.71230C= (p.Leu23744=)
c.52315C= (p.Leu17439=)
c.52114C= (p.Leu17372=)
c.51739C= (p.Leu17247=)
c.78934C= (p.Leu26312=)
c.74011C= (p.Leu24671=)
n.447-4102G=
n.2044-15374G=
c.78031C= (p.Leu26011=)
c.51925C= (p.Leu17309=)
c.51784C= (p.Leu17262=)
c.77827C= (p.Leu25943=)
c.73225C= (p.Leu24409=)
c.73222C= (p.Leu24408=)
c.70264C= (p.Leu23422=)
c.51880C= (p.Leu17294=)
c.73375C= (p.Leu24459=)
c.73372C= (p.Leu24458=)
c.72805C= (p.Leu24269=)
c.70147C= (p.Leu23383=)
c.70066C= (p.Leu23356=)
c.51829C= (p.Leu17277=)
c.41683C= (p.Leu13895=)
2g.178567198G>TCA349600536TTN,TTN-AS1c.71230C>A (p.Leu23744Ile)
c.52315C>A (p.Leu17439Ile)
c.52114C>A (p.Leu17372Ile)
c.51739C>A (p.Leu17247Ile)
c.78934C>A (p.Leu26312Ile)
c.74011C>A (p.Leu24671Ile)
n.447-4102G>T
n.2044-15374G>T
c.78031C>A (p.Leu26011Ile)
c.51925C>A (p.Leu17309Ile)
c.51784C>A (p.Leu17262Ile)
c.77827C>A (p.Leu25943Ile)
c.73225C>A (p.Leu24409Ile)
c.73222C>A (p.Leu24408Ile)
c.70264C>A (p.Leu23422Ile)
c.51880C>A (p.Leu17294Ile)
c.73375C>A (p.Leu24459Ile)
c.73372C>A (p.Leu24458Ile)
c.72805C>A (p.Leu24269Ile)
c.70147C>A (p.Leu23383Ile)
c.70066C>A (p.Leu23356Ile)
c.51829C>A (p.Leu17277Ile)
c.41683C>A (p.Leu13895Ile)
 gnomAD v4
2g.178567199T>ACA430252847TTN,TTN-AS1c.71229A>T (p.Pro23743=)
c.52314A>T (p.Pro17438=)
c.52113A>T (p.Pro17371=)
c.51738A>T (p.Pro17246=)
c.78933A>T (p.Pro26311=)
c.74010A>T (p.Pro24670=)
n.447-4101T>A
n.2044-15373T>A
c.78030A>T (p.Pro26010=)
c.51924A>T (p.Pro17308=)
c.51783A>T (p.Pro17261=)
c.77826A>T (p.Pro25942=)
c.73224A>T (p.Pro24408=)
c.73221A>T (p.Pro24407=)
c.70263A>T (p.Pro23421=)
c.51879A>T (p.Pro17293=)
c.73374A>T (p.Pro24458=)
c.73371A>T (p.Pro24457=)
c.72804A>T (p.Pro24268=)
c.70146A>T (p.Pro23382=)
c.70065A>T (p.Pro23355=)
c.51828A>T (p.Pro17276=)
c.41682A>T (p.Pro13894=)
2g.178567199T>CCA430252848TTN,TTN-AS1c.71229A>G (p.Pro23743=)
c.52314A>G (p.Pro17438=)
c.52113A>G (p.Pro17371=)
c.51738A>G (p.Pro17246=)
c.78933A>G (p.Pro26311=)
c.74010A>G (p.Pro24670=)
n.447-4101T>C
n.2044-15373T>C
c.78030A>G (p.Pro26010=)
c.51924A>G (p.Pro17308=)
c.51783A>G (p.Pro17261=)
c.77826A>G (p.Pro25942=)
c.73224A>G (p.Pro24408=)
c.73221A>G (p.Pro24407=)
c.70263A>G (p.Pro23421=)
c.51879A>G (p.Pro17293=)
c.73374A>G (p.Pro24458=)
c.73371A>G (p.Pro24457=)
c.72804A>G (p.Pro24268=)
c.70146A>G (p.Pro23382=)
c.70065A>G (p.Pro23355=)
c.51828A>G (p.Pro17276=)
c.41682A>G (p.Pro13894=)
2g.178567199T>GCA430252849TTN,TTN-AS1c.71229A>C (p.Pro23743=)
c.52314A>C (p.Pro17438=)
c.52113A>C (p.Pro17371=)
c.51738A>C (p.Pro17246=)
c.78933A>C (p.Pro26311=)
c.74010A>C (p.Pro24670=)
n.447-4101T>G
n.2044-15373T>G
c.78030A>C (p.Pro26010=)
c.51924A>C (p.Pro17308=)
c.51783A>C (p.Pro17261=)
c.77826A>C (p.Pro25942=)
c.73224A>C (p.Pro24408=)
c.73221A>C (p.Pro24407=)
c.70263A>C (p.Pro23421=)
c.51879A>C (p.Pro17293=)
c.73374A>C (p.Pro24458=)
c.73371A>C (p.Pro24457=)
c.72804A>C (p.Pro24268=)
c.70146A>C (p.Pro23382=)
c.70065A>C (p.Pro23355=)
c.51828A>C (p.Pro17276=)
c.41682A>C (p.Pro13894=)
2g.178567200G>ACA349600538TTN,TTN-AS1c.71228C>T (p.Pro23743Leu)
c.52313C>T (p.Pro17438Leu)
c.52112C>T (p.Pro17371Leu)
c.51737C>T (p.Pro17246Leu)
c.78932C>T (p.Pro26311Leu)
c.74009C>T (p.Pro24670Leu)
n.447-4100G>A
n.2044-15372G>A
c.78029C>T (p.Pro26010Leu)
c.51923C>T (p.Pro17308Leu)
c.51782C>T (p.Pro17261Leu)
c.77825C>T (p.Pro25942Leu)
c.73223C>T (p.Pro24408Leu)
c.73220C>T (p.Pro24407Leu)
c.70262C>T (p.Pro23421Leu)
c.51878C>T (p.Pro17293Leu)
c.73373C>T (p.Pro24458Leu)
c.73370C>T (p.Pro24457Leu)
c.72803C>T (p.Pro24268Leu)
c.70145C>T (p.Pro23382Leu)
c.70064C>T (p.Pro23355Leu)
c.51827C>T (p.Pro17276Leu)
c.41681C>T (p.Pro13894Leu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178567200G>CCA349600539TTN,TTN-AS1c.71228C>G (p.Pro23743Arg)
c.52313C>G (p.Pro17438Arg)
c.52112C>G (p.Pro17371Arg)
c.51737C>G (p.Pro17246Arg)
c.78932C>G (p.Pro26311Arg)
c.74009C>G (p.Pro24670Arg)
n.447-4100G>C
n.2044-15372G>C
c.78029C>G (p.Pro26010Arg)
c.51923C>G (p.Pro17308Arg)
c.51782C>G (p.Pro17261Arg)
c.77825C>G (p.Pro25942Arg)
c.73223C>G (p.Pro24408Arg)
c.73220C>G (p.Pro24407Arg)
c.70262C>G (p.Pro23421Arg)
c.51878C>G (p.Pro17293Arg)
c.73373C>G (p.Pro24458Arg)
c.73370C>G (p.Pro24457Arg)
c.72803C>G (p.Pro24268Arg)
c.70145C>G (p.Pro23382Arg)
c.70064C>G (p.Pro23355Arg)
c.51827C>G (p.Pro17276Arg)
c.41681C>G (p.Pro13894Arg)
2g.178567200G>TCA349600542TTN,TTN-AS1c.71228C>A (p.Pro23743Gln)
c.52313C>A (p.Pro17438Gln)
c.52112C>A (p.Pro17371Gln)
c.51737C>A (p.Pro17246Gln)
c.78932C>A (p.Pro26311Gln)
c.74009C>A (p.Pro24670Gln)
n.447-4100G>T
n.2044-15372G>T
c.78029C>A (p.Pro26010Gln)
c.51923C>A (p.Pro17308Gln)
c.51782C>A (p.Pro17261Gln)
c.77825C>A (p.Pro25942Gln)
c.73223C>A (p.Pro24408Gln)
c.73220C>A (p.Pro24407Gln)
c.70262C>A (p.Pro23421Gln)
c.51878C>A (p.Pro17293Gln)
c.73373C>A (p.Pro24458Gln)
c.73370C>A (p.Pro24457Gln)
c.72803C>A (p.Pro24268Gln)
c.70145C>A (p.Pro23382Gln)
c.70064C>A (p.Pro23355Gln)
c.51827C>A (p.Pro17276Gln)
c.41681C>A (p.Pro13894Gln)
2g.178567201G>ACA60991023TTN,TTN-AS1c.71227C>T (p.Pro23743Ser)
c.52312C>T (p.Pro17438Ser)
c.52111C>T (p.Pro17371Ser)
c.51736C>T (p.Pro17246Ser)
c.78931C>T (p.Pro26311Ser)
c.74008C>T (p.Pro24670Ser)
n.447-4099G>A
n.2044-15371G>A
c.78028C>T (p.Pro26010Ser)
c.51922C>T (p.Pro17308Ser)
c.51781C>T (p.Pro17261Ser)
c.77824C>T (p.Pro25942Ser)
c.73222C>T (p.Pro24408Ser)
c.73219C>T (p.Pro24407Ser)
c.70261C>T (p.Pro23421Ser)
c.51877C>T (p.Pro17293Ser)
c.73372C>T (p.Pro24458Ser)
c.73369C>T (p.Pro24457Ser)
c.72802C>T (p.Pro24268Ser)
c.70144C>T (p.Pro23382Ser)
c.70063C>T (p.Pro23355Ser)
c.51826C>T (p.Pro17276Ser)
c.41680C>T (p.Pro13894Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178567201G>CCA349600546TTN,TTN-AS1c.71227C>G (p.Pro23743Ala)
c.52312C>G (p.Pro17438Ala)
c.52111C>G (p.Pro17371Ala)
c.51736C>G (p.Pro17246Ala)
c.78931C>G (p.Pro26311Ala)
c.74008C>G (p.Pro24670Ala)
n.447-4099G>C
n.2044-15371G>C
c.78028C>G (p.Pro26010Ala)
c.51922C>G (p.Pro17308Ala)
c.51781C>G (p.Pro17261Ala)
c.77824C>G (p.Pro25942Ala)
c.73222C>G (p.Pro24408Ala)
c.73219C>G (p.Pro24407Ala)
c.70261C>G (p.Pro23421Ala)
c.51877C>G (p.Pro17293Ala)
c.73372C>G (p.Pro24458Ala)
c.73369C>G (p.Pro24457Ala)
c.72802C>G (p.Pro24268Ala)
c.70144C>G (p.Pro23382Ala)
c.70063C>G (p.Pro23355Ala)
c.51826C>G (p.Pro17276Ala)
c.41680C>G (p.Pro13894Ala)
2g.178567201G=CA1310529828TTN,TTN-AS1c.71227C= (p.Pro23743=)
c.52312C= (p.Pro17438=)
c.52111C= (p.Pro17371=)
c.51736C= (p.Pro17246=)
c.78931C= (p.Pro26311=)
c.74008C= (p.Pro24670=)
n.447-4099G=
n.2044-15371G=
c.78028C= (p.Pro26010=)
c.51922C= (p.Pro17308=)
c.51781C= (p.Pro17261=)
c.77824C= (p.Pro25942=)
c.73222C= (p.Pro24408=)
c.73219C= (p.Pro24407=)
c.70261C= (p.Pro23421=)
c.51877C= (p.Pro17293=)
c.73372C= (p.Pro24458=)
c.73369C= (p.Pro24457=)
c.72802C= (p.Pro24268=)
c.70144C= (p.Pro23382=)
c.70063C= (p.Pro23355=)
c.51826C= (p.Pro17276=)
c.41680C= (p.Pro13894=)
2g.178567201G>TCA349600547TTN,TTN-AS1c.71227C>A (p.Pro23743Thr)
c.52312C>A (p.Pro17438Thr)
c.52111C>A (p.Pro17371Thr)
c.51736C>A (p.Pro17246Thr)
c.78931C>A (p.Pro26311Thr)
c.74008C>A (p.Pro24670Thr)
n.447-4099G>T
n.2044-15371G>T
c.78028C>A (p.Pro26010Thr)
c.51922C>A (p.Pro17308Thr)
c.51781C>A (p.Pro17261Thr)
c.77824C>A (p.Pro25942Thr)
c.73222C>A (p.Pro24408Thr)
c.73219C>A (p.Pro24407Thr)
c.70261C>A (p.Pro23421Thr)
c.51877C>A (p.Pro17293Thr)
c.73372C>A (p.Pro24458Thr)
c.73369C>A (p.Pro24457Thr)
c.72802C>A (p.Pro24268Thr)
c.70144C>A (p.Pro23382Thr)
c.70063C>A (p.Pro23355Thr)
c.51826C>A (p.Pro17276Thr)
c.41680C>A (p.Pro13894Thr)
2g.178567202T>ACA430252853TTN,TTN-AS1c.71226A>T (p.Pro23742=)
c.52311A>T (p.Pro17437=)
c.52110A>T (p.Pro17370=)
c.51735A>T (p.Pro17245=)
c.78930A>T (p.Pro26310=)
c.74007A>T (p.Pro24669=)
n.447-4098T>A
n.2044-15370T>A
c.78027A>T (p.Pro26009=)
c.51921A>T (p.Pro17307=)
c.51780A>T (p.Pro17260=)
c.77823A>T (p.Pro25941=)
c.73221A>T (p.Pro24407=)
c.73218A>T (p.Pro24406=)
c.70260A>T (p.Pro23420=)
c.51876A>T (p.Pro17292=)
c.73371A>T (p.Pro24457=)
c.73368A>T (p.Pro24456=)
c.72801A>T (p.Pro24267=)
c.70143A>T (p.Pro23381=)
c.70062A>T (p.Pro23354=)
c.51825A>T (p.Pro17275=)
c.41679A>T (p.Pro13893=)
2g.178567202T>CCA430252854TTN,TTN-AS1c.71226A>G (p.Pro23742=)
c.52311A>G (p.Pro17437=)
c.52110A>G (p.Pro17370=)
c.51735A>G (p.Pro17245=)
c.78930A>G (p.Pro26310=)
c.74007A>G (p.Pro24669=)
n.447-4098T>C
n.2044-15370T>C
c.78027A>G (p.Pro26009=)
c.51921A>G (p.Pro17307=)
c.51780A>G (p.Pro17260=)
c.77823A>G (p.Pro25941=)
c.73221A>G (p.Pro24407=)
c.73218A>G (p.Pro24406=)
c.70260A>G (p.Pro23420=)
c.51876A>G (p.Pro17292=)
c.73371A>G (p.Pro24457=)
c.73368A>G (p.Pro24456=)
c.72801A>G (p.Pro24267=)
c.70143A>G (p.Pro23381=)
c.70062A>G (p.Pro23354=)
c.51825A>G (p.Pro17275=)
c.41679A>G (p.Pro13893=)
 gnomAD v4
2g.178567202T>GCA430252855TTN,TTN-AS1c.71226A>C (p.Pro23742=)
c.52311A>C (p.Pro17437=)
c.52110A>C (p.Pro17370=)
c.51735A>C (p.Pro17245=)
c.78930A>C (p.Pro26310=)
c.74007A>C (p.Pro24669=)
n.447-4098T>G
n.2044-15370T>G
c.78027A>C (p.Pro26009=)
c.51921A>C (p.Pro17307=)
c.51780A>C (p.Pro17260=)
c.77823A>C (p.Pro25941=)
c.73221A>C (p.Pro24407=)
c.73218A>C (p.Pro24406=)
c.70260A>C (p.Pro23420=)
c.51876A>C (p.Pro17292=)
c.73371A>C (p.Pro24457=)
c.73368A>C (p.Pro24456=)
c.72801A>C (p.Pro24267=)
c.70143A>C (p.Pro23381=)
c.70062A>C (p.Pro23354=)
c.51825A>C (p.Pro17275=)
c.41679A>C (p.Pro13893=)
2g.178567203G>ACA1989549TTN,TTN-AS1c.71225C>T (p.Pro23742Leu)
c.52310C>T (p.Pro17437Leu)
c.52109C>T (p.Pro17370Leu)
c.51734C>T (p.Pro17245Leu)
c.78929C>T (p.Pro26310Leu)
c.74006C>T (p.Pro24669Leu)
n.447-4097G>A
n.2044-15369G>A
c.78026C>T (p.Pro26009Leu)
c.51920C>T (p.Pro17307Leu)
c.51779C>T (p.Pro17260Leu)
c.77822C>T (p.Pro25941Leu)
c.73220C>T (p.Pro24407Leu)
c.73217C>T (p.Pro24406Leu)
c.70259C>T (p.Pro23420Leu)
c.51875C>T (p.Pro17292Leu)
c.73370C>T (p.Pro24457Leu)
c.73367C>T (p.Pro24456Leu)
c.72800C>T (p.Pro24267Leu)
c.70142C>T (p.Pro23381Leu)
c.70061C>T (p.Pro23354Leu)
c.51824C>T (p.Pro17275Leu)
c.41678C>T (p.Pro13893Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178567203G>CCA349600555TTN,TTN-AS1c.71225C>G (p.Pro23742Arg)
c.52310C>G (p.Pro17437Arg)
c.52109C>G (p.Pro17370Arg)
c.51734C>G (p.Pro17245Arg)
c.78929C>G (p.Pro26310Arg)
c.74006C>G (p.Pro24669Arg)
n.447-4097G>C
n.2044-15369G>C
c.78026C>G (p.Pro26009Arg)
c.51920C>G (p.Pro17307Arg)
c.51779C>G (p.Pro17260Arg)
c.77822C>G (p.Pro25941Arg)
c.73220C>G (p.Pro24407Arg)
c.73217C>G (p.Pro24406Arg)
c.70259C>G (p.Pro23420Arg)
c.51875C>G (p.Pro17292Arg)
c.73370C>G (p.Pro24457Arg)
c.73367C>G (p.Pro24456Arg)
c.72800C>G (p.Pro24267Arg)
c.70142C>G (p.Pro23381Arg)
c.70061C>G (p.Pro23354Arg)
c.51824C>G (p.Pro17275Arg)
c.41678C>G (p.Pro13893Arg)
2g.178567203G=CA1310529829TTN,TTN-AS1c.71225C= (p.Pro23742=)
c.52310C= (p.Pro17437=)
c.52109C= (p.Pro17370=)
c.51734C= (p.Pro17245=)
c.78929C= (p.Pro26310=)
c.74006C= (p.Pro24669=)
n.447-4097G=
n.2044-15369G=
c.78026C= (p.Pro26009=)
c.51920C= (p.Pro17307=)
c.51779C= (p.Pro17260=)
c.77822C= (p.Pro25941=)
c.73220C= (p.Pro24407=)
c.73217C= (p.Pro24406=)
c.70259C= (p.Pro23420=)
c.51875C= (p.Pro17292=)
c.73370C= (p.Pro24457=)
c.73367C= (p.Pro24456=)
c.72800C= (p.Pro24267=)
c.70142C= (p.Pro23381=)
c.70061C= (p.Pro23354=)
c.51824C= (p.Pro17275=)
c.41678C= (p.Pro13893=)
2g.178567203G>TCA349600551TTN,TTN-AS1c.71225C>A (p.Pro23742Gln)
c.52310C>A (p.Pro17437Gln)
c.52109C>A (p.Pro17370Gln)
c.51734C>A (p.Pro17245Gln)
c.78929C>A (p.Pro26310Gln)
c.74006C>A (p.Pro24669Gln)
n.447-4097G>T
n.2044-15369G>T
c.78026C>A (p.Pro26009Gln)
c.51920C>A (p.Pro17307Gln)
c.51779C>A (p.Pro17260Gln)
c.77822C>A (p.Pro25941Gln)
c.73220C>A (p.Pro24407Gln)
c.73217C>A (p.Pro24406Gln)
c.70259C>A (p.Pro23420Gln)
c.51875C>A (p.Pro17292Gln)
c.73370C>A (p.Pro24457Gln)
c.73367C>A (p.Pro24456Gln)
c.72800C>A (p.Pro24267Gln)
c.70142C>A (p.Pro23381Gln)
c.70061C>A (p.Pro23354Gln)
c.51824C>A (p.Pro17275Gln)
c.41678C>A (p.Pro13893Gln)
2g.178567204G>ACA349600558TTN,TTN-AS1c.71224C>T (p.Pro23742Ser)
c.52309C>T (p.Pro17437Ser)
c.52108C>T (p.Pro17370Ser)
c.51733C>T (p.Pro17245Ser)
c.78928C>T (p.Pro26310Ser)
c.74005C>T (p.Pro24669Ser)
n.447-4096G>A
n.2044-15368G>A
c.78025C>T (p.Pro26009Ser)
c.51919C>T (p.Pro17307Ser)
c.51778C>T (p.Pro17260Ser)
c.77821C>T (p.Pro25941Ser)
c.73219C>T (p.Pro24407Ser)
c.73216C>T (p.Pro24406Ser)
c.70258C>T (p.Pro23420Ser)
c.51874C>T (p.Pro17292Ser)
c.73369C>T (p.Pro24457Ser)
c.73366C>T (p.Pro24456Ser)
c.72799C>T (p.Pro24267Ser)
c.70141C>T (p.Pro23381Ser)
c.70060C>T (p.Pro23354Ser)
c.51823C>T (p.Pro17275Ser)
c.41677C>T (p.Pro13893Ser)
2g.178567204G>CCA349600556TTN,TTN-AS1c.71224C>G (p.Pro23742Ala)
c.52309C>G (p.Pro17437Ala)
c.52108C>G (p.Pro17370Ala)
c.51733C>G (p.Pro17245Ala)
c.78928C>G (p.Pro26310Ala)
c.74005C>G (p.Pro24669Ala)
n.447-4096G>C
n.2044-15368G>C
c.78025C>G (p.Pro26009Ala)
c.51919C>G (p.Pro17307Ala)
c.51778C>G (p.Pro17260Ala)
c.77821C>G (p.Pro25941Ala)
c.73219C>G (p.Pro24407Ala)
c.73216C>G (p.Pro24406Ala)
c.70258C>G (p.Pro23420Ala)
c.51874C>G (p.Pro17292Ala)
c.73369C>G (p.Pro24457Ala)
c.73366C>G (p.Pro24456Ala)
c.72799C>G (p.Pro24267Ala)
c.70141C>G (p.Pro23381Ala)
c.70060C>G (p.Pro23354Ala)
c.51823C>G (p.Pro17275Ala)
c.41677C>G (p.Pro13893Ala)
2g.178567204G=CA1310529830TTN,TTN-AS1c.71224C= (p.Pro23742=)
c.52309C= (p.Pro17437=)
c.52108C= (p.Pro17370=)
c.51733C= (p.Pro17245=)
c.78928C= (p.Pro26310=)
c.74005C= (p.Pro24669=)
n.447-4096G=
n.2044-15368G=
c.78025C= (p.Pro26009=)
c.51919C= (p.Pro17307=)
c.51778C= (p.Pro17260=)
c.77821C= (p.Pro25941=)
c.73219C= (p.Pro24407=)
c.73216C= (p.Pro24406=)
c.70258C= (p.Pro23420=)
c.51874C= (p.Pro17292=)
c.73369C= (p.Pro24457=)
c.73366C= (p.Pro24456=)
c.72799C= (p.Pro24267=)
c.70141C= (p.Pro23381=)
c.70060C= (p.Pro23354=)
c.51823C= (p.Pro17275=)
c.41677C= (p.Pro13893=)
2g.178567204G>TCA349600557TTN,TTN-AS1c.71224C>A (p.Pro23742Thr)
c.52309C>A (p.Pro17437Thr)
c.52108C>A (p.Pro17370Thr)
c.51733C>A (p.Pro17245Thr)
c.78928C>A (p.Pro26310Thr)
c.74005C>A (p.Pro24669Thr)
n.447-4096G>T
n.2044-15368G>T
c.78025C>A (p.Pro26009Thr)
c.51919C>A (p.Pro17307Thr)
c.51778C>A (p.Pro17260Thr)
c.77821C>A (p.Pro25941Thr)
c.73219C>A (p.Pro24407Thr)
c.73216C>A (p.Pro24406Thr)
c.70258C>A (p.Pro23420Thr)
c.51874C>A (p.Pro17292Thr)
c.73369C>A (p.Pro24457Thr)
c.73366C>A (p.Pro24456Thr)
c.72799C>A (p.Pro24267Thr)
c.70141C>A (p.Pro23381Thr)
c.70060C>A (p.Pro23354Thr)
c.51823C>A (p.Pro17275Thr)
c.41677C>A (p.Pro13893Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178567205A>CCA430252859TTN,TTN-AS1c.71223T>G (p.Ser23741=)
c.52308T>G (p.Ser17436=)
c.52107T>G (p.Ser17369=)
c.51732T>G (p.Ser17244=)
c.78927T>G (p.Ser26309=)
c.74004T>G (p.Ser24668=)
n.447-4095A>C
n.2044-15367A>C
c.78024T>G (p.Ser26008=)
c.51918T>G (p.Ser17306=)
c.51777T>G (p.Ser17259=)
c.77820T>G (p.Ser25940=)
c.73218T>G (p.Ser24406=)
c.73215T>G (p.Ser24405=)
c.70257T>G (p.Ser23419=)
c.51873T>G (p.Ser17291=)
c.73368T>G (p.Ser24456=)
c.73365T>G (p.Ser24455=)
c.72798T>G (p.Ser24266=)
c.70140T>G (p.Ser23380=)
c.70059T>G (p.Ser23353=)
c.51822T>G (p.Ser17274=)
c.41676T>G (p.Ser13892=)
2g.178567205A>GCA430252860TTN,TTN-AS1c.71223T>C (p.Ser23741=)
c.52308T>C (p.Ser17436=)
c.52107T>C (p.Ser17369=)
c.51732T>C (p.Ser17244=)
c.78927T>C (p.Ser26309=)
c.74004T>C (p.Ser24668=)
n.447-4095A>G
n.2044-15367A>G
c.78024T>C (p.Ser26008=)
c.51918T>C (p.Ser17306=)
c.51777T>C (p.Ser17259=)
c.77820T>C (p.Ser25940=)
c.73218T>C (p.Ser24406=)
c.73215T>C (p.Ser24405=)
c.70257T>C (p.Ser23419=)
c.51873T>C (p.Ser17291=)
c.73368T>C (p.Ser24456=)
c.73365T>C (p.Ser24455=)
c.72798T>C (p.Ser24266=)
c.70140T>C (p.Ser23380=)
c.70059T>C (p.Ser23353=)
c.51822T>C (p.Ser17274=)
c.41676T>C (p.Ser13892=)
2g.178567205A>TCA430252861TTN,TTN-AS1c.71223T>A (p.Ser23741=)
c.52308T>A (p.Ser17436=)
c.52107T>A (p.Ser17369=)
c.51732T>A (p.Ser17244=)
c.78927T>A (p.Ser26309=)
c.74004T>A (p.Ser24668=)
n.447-4095A>T
n.2044-15367A>T
c.78024T>A (p.Ser26008=)
c.51918T>A (p.Ser17306=)
c.51777T>A (p.Ser17259=)
c.77820T>A (p.Ser25940=)
c.73218T>A (p.Ser24406=)
c.73215T>A (p.Ser24405=)
c.70257T>A (p.Ser23419=)
c.51873T>A (p.Ser17291=)
c.73368T>A (p.Ser24456=)
c.73365T>A (p.Ser24455=)
c.72798T>A (p.Ser24266=)
c.70140T>A (p.Ser23380=)
c.70059T>A (p.Ser23353=)
c.51822T>A (p.Ser17274=)
c.41676T>A (p.Ser13892=)
2g.178567206G>ACA349600561TTN,TTN-AS1c.71222C>T (p.Ser23741Phe)
c.52307C>T (p.Ser17436Phe)
c.52106C>T (p.Ser17369Phe)
c.51731C>T (p.Ser17244Phe)
c.78926C>T (p.Ser26309Phe)
c.74003C>T (p.Ser24668Phe)
n.447-4094G>A
n.2044-15366G>A
c.78023C>T (p.Ser26008Phe)
c.51917C>T (p.Ser17306Phe)
c.51776C>T (p.Ser17259Phe)
c.77819C>T (p.Ser25940Phe)
c.73217C>T (p.Ser24406Phe)
c.73214C>T (p.Ser24405Phe)
c.70256C>T (p.Ser23419Phe)
c.51872C>T (p.Ser17291Phe)
c.73367C>T (p.Ser24456Phe)
c.73364C>T (p.Ser24455Phe)
c.72797C>T (p.Ser24266Phe)
c.70139C>T (p.Ser23380Phe)
c.70058C>T (p.Ser23353Phe)
c.51821C>T (p.Ser17274Phe)
c.41675C>T (p.Ser13892Phe)
2g.178567206G>CCA349600563TTN,TTN-AS1c.71222C>G (p.Ser23741Cys)
c.52307C>G (p.Ser17436Cys)
c.52106C>G (p.Ser17369Cys)
c.51731C>G (p.Ser17244Cys)
c.78926C>G (p.Ser26309Cys)
c.74003C>G (p.Ser24668Cys)
n.447-4094G>C
n.2044-15366G>C
c.78023C>G (p.Ser26008Cys)
c.51917C>G (p.Ser17306Cys)
c.51776C>G (p.Ser17259Cys)
c.77819C>G (p.Ser25940Cys)
c.73217C>G (p.Ser24406Cys)
c.73214C>G (p.Ser24405Cys)
c.70256C>G (p.Ser23419Cys)
c.51872C>G (p.Ser17291Cys)
c.73367C>G (p.Ser24456Cys)
c.73364C>G (p.Ser24455Cys)
c.72797C>G (p.Ser24266Cys)
c.70139C>G (p.Ser23380Cys)
c.70058C>G (p.Ser23353Cys)
c.51821C>G (p.Ser17274Cys)
c.41675C>G (p.Ser13892Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.178567206G=CA1310529831TTN,TTN-AS1c.71222C= (p.Ser23741=)
c.52307C= (p.Ser17436=)
c.52106C= (p.Ser17369=)
c.51731C= (p.Ser17244=)
c.78926C= (p.Ser26309=)
c.74003C= (p.Ser24668=)
n.447-4094G=
n.2044-15366G=
c.78023C= (p.Ser26008=)
c.51917C= (p.Ser17306=)
c.51776C= (p.Ser17259=)
c.77819C= (p.Ser25940=)
c.73217C= (p.Ser24406=)
c.73214C= (p.Ser24405=)
c.70256C= (p.Ser23419=)
c.51872C= (p.Ser17291=)
c.73367C= (p.Ser24456=)
c.73364C= (p.Ser24455=)
c.72797C= (p.Ser24266=)
c.70139C= (p.Ser23380=)
c.70058C= (p.Ser23353=)
c.51821C= (p.Ser17274=)
c.41675C= (p.Ser13892=)

Number of alleles fetched