Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178570639_178570640delinsAGCA1310531190TTN,TTN-AS1c.67788_67789delinsCT (p.Asp22596=)
c.48873_48874delinsCT (p.Asp16291=)
c.48672_48673delinsCT (p.Asp16224=)
c.48297_48298delinsCT (p.Asp16099=)
c.75492_75493delinsCT (p.Asp25164=)
c.70569_70570delinsCT (p.Asp23523=)
n.447-661_447-660delinsAG
n.2044-11933_2044-11932delinsAG
c.74589_74590delinsCT (p.Asp24863=)
c.48483_48484delinsCT (p.Asp16161=)
c.48342_48343delinsCT (p.Asp16114=)
c.74385_74386delinsCT (p.Asp24795=)
c.69783_69784delinsCT (p.Asp23261=)
c.69780_69781delinsCT (p.Asp23260=)
c.66822_66823delinsCT (p.Asp22274=)
c.48438_48439delinsCT (p.Asp16146=)
c.69933_69934delinsCT (p.Asp23311=)
c.69930_69931delinsCT (p.Asp23310=)
c.69363_69364delinsCT (p.Asp23121=)
c.66705_66706delinsCT (p.Asp22235=)
c.66624_66625delinsCT (p.Asp22208=)
c.48387_48388delinsCT (p.Asp16129=)
c.38241_38242delinsCT (p.Asp12747=)
2g.178570640delCA16042365TTN,TTN-AS1c.67788del (p.Phe22597LeufsTer7)
c.48873del (p.Phe16292LeufsTer7)
c.48672del (p.Phe16225LeufsTer7)
c.48297del (p.Phe16100LeufsTer7)
c.75492del (p.Phe25165LeufsTer7)
c.70569del (p.Phe23524LeufsTer7)
n.447-660del
n.2044-11932del
c.74589del (p.Phe24864LeufsTer7)
c.48483del (p.Phe16162LeufsTer7)
c.48342del (p.Phe16115LeufsTer7)
c.74385del (p.Phe24796LeufsTer7)
c.69783del (p.Phe23262LeufsTer7)
c.69780del (p.Phe23261LeufsTer7)
c.66822del (p.Phe22275LeufsTer7)
c.48438del (p.Phe16147LeufsTer7)
c.69933del (p.Phe23312LeufsTer7)
c.69930del (p.Phe23311LeufsTer7)
c.69363del (p.Phe23122LeufsTer7)
c.66705del (p.Phe22236LeufsTer7)
c.66624del (p.Phe22209LeufsTer7)
c.48387del (p.Phe16130LeufsTer7)
c.38241del (p.Phe12748LeufsTer7)
 ClinVar dbSNP
2g.178570640G>ACA430254958TTN,TTN-AS1c.67788C>T (p.Asp22596=)
c.48873C>T (p.Asp16291=)
c.48672C>T (p.Asp16224=)
c.48297C>T (p.Asp16099=)
c.75492C>T (p.Asp25164=)
c.70569C>T (p.Asp23523=)
n.447-660G>A
n.2044-11932G>A
c.74589C>T (p.Asp24863=)
c.48483C>T (p.Asp16161=)
c.48342C>T (p.Asp16114=)
c.74385C>T (p.Asp24795=)
c.69783C>T (p.Asp23261=)
c.69780C>T (p.Asp23260=)
c.66822C>T (p.Asp22274=)
c.48438C>T (p.Asp16146=)
c.69933C>T (p.Asp23311=)
c.69930C>T (p.Asp23310=)
c.69363C>T (p.Asp23121=)
c.66705C>T (p.Asp22235=)
c.66624C>T (p.Asp22208=)
c.48387C>T (p.Asp16129=)
c.38241C>T (p.Asp12747=)
 gnomAD v4
2g.178570640G>CCA349624821TTN,TTN-AS1c.67788C>G (p.Asp22596Glu)
c.48873C>G (p.Asp16291Glu)
c.48672C>G (p.Asp16224Glu)
c.48297C>G (p.Asp16099Glu)
c.75492C>G (p.Asp25164Glu)
c.70569C>G (p.Asp23523Glu)
n.447-660G>C
n.2044-11932G>C
c.74589C>G (p.Asp24863Glu)
c.48483C>G (p.Asp16161Glu)
c.48342C>G (p.Asp16114Glu)
c.74385C>G (p.Asp24795Glu)
c.69783C>G (p.Asp23261Glu)
c.69780C>G (p.Asp23260Glu)
c.66822C>G (p.Asp22274Glu)
c.48438C>G (p.Asp16146Glu)
c.69933C>G (p.Asp23311Glu)
c.69930C>G (p.Asp23310Glu)
c.69363C>G (p.Asp23121Glu)
c.66705C>G (p.Asp22235Glu)
c.66624C>G (p.Asp22208Glu)
c.48387C>G (p.Asp16129Glu)
c.38241C>G (p.Asp12747Glu)
2g.178570640G>TCA349624822TTN,TTN-AS1c.67788C>A (p.Asp22596Glu)
c.48873C>A (p.Asp16291Glu)
c.48672C>A (p.Asp16224Glu)
c.48297C>A (p.Asp16099Glu)
c.75492C>A (p.Asp25164Glu)
c.70569C>A (p.Asp23523Glu)
n.447-660G>T
n.2044-11932G>T
c.74589C>A (p.Asp24863Glu)
c.48483C>A (p.Asp16161Glu)
c.48342C>A (p.Asp16114Glu)
c.74385C>A (p.Asp24795Glu)
c.69783C>A (p.Asp23261Glu)
c.69780C>A (p.Asp23260Glu)
c.66822C>A (p.Asp22274Glu)
c.48438C>A (p.Asp16146Glu)
c.69933C>A (p.Asp23311Glu)
c.69930C>A (p.Asp23310Glu)
c.69363C>A (p.Asp23121Glu)
c.66705C>A (p.Asp22235Glu)
c.66624C>A (p.Asp22208Glu)
c.48387C>A (p.Asp16129Glu)
c.38241C>A (p.Asp12747Glu)
2g.178570641T>ACA60995874TTN,TTN-AS1c.67787A>T (p.Asp22596Val)
c.48872A>T (p.Asp16291Val)
c.48671A>T (p.Asp16224Val)
c.48296A>T (p.Asp16099Val)
c.75491A>T (p.Asp25164Val)
c.70568A>T (p.Asp23523Val)
n.447-659T>A
n.2044-11931T>A
c.74588A>T (p.Asp24863Val)
c.48482A>T (p.Asp16161Val)
c.48341A>T (p.Asp16114Val)
c.74384A>T (p.Asp24795Val)
c.69782A>T (p.Asp23261Val)
c.69779A>T (p.Asp23260Val)
c.66821A>T (p.Asp22274Val)
c.48437A>T (p.Asp16146Val)
c.69932A>T (p.Asp23311Val)
c.69929A>T (p.Asp23310Val)
c.69362A>T (p.Asp23121Val)
c.66704A>T (p.Asp22235Val)
c.66623A>T (p.Asp22208Val)
c.48386A>T (p.Asp16129Val)
c.38240A>T (p.Asp12747Val)
 dbSNP
2g.178570641T>CCA349624828TTN,TTN-AS1c.67787A>G (p.Asp22596Gly)
c.48872A>G (p.Asp16291Gly)
c.48671A>G (p.Asp16224Gly)
c.48296A>G (p.Asp16099Gly)
c.75491A>G (p.Asp25164Gly)
c.70568A>G (p.Asp23523Gly)
n.447-659T>C
n.2044-11931T>C
c.74588A>G (p.Asp24863Gly)
c.48482A>G (p.Asp16161Gly)
c.48341A>G (p.Asp16114Gly)
c.74384A>G (p.Asp24795Gly)
c.69782A>G (p.Asp23261Gly)
c.69779A>G (p.Asp23260Gly)
c.66821A>G (p.Asp22274Gly)
c.48437A>G (p.Asp16146Gly)
c.69932A>G (p.Asp23311Gly)
c.69929A>G (p.Asp23310Gly)
c.69362A>G (p.Asp23121Gly)
c.66704A>G (p.Asp22235Gly)
c.66623A>G (p.Asp22208Gly)
c.48386A>G (p.Asp16129Gly)
c.38240A>G (p.Asp12747Gly)
2g.178570641T>GCA349624825TTN,TTN-AS1c.67787A>C (p.Asp22596Ala)
c.48872A>C (p.Asp16291Ala)
c.48671A>C (p.Asp16224Ala)
c.48296A>C (p.Asp16099Ala)
c.75491A>C (p.Asp25164Ala)
c.70568A>C (p.Asp23523Ala)
n.447-659T>G
n.2044-11931T>G
c.74588A>C (p.Asp24863Ala)
c.48482A>C (p.Asp16161Ala)
c.48341A>C (p.Asp16114Ala)
c.74384A>C (p.Asp24795Ala)
c.69782A>C (p.Asp23261Ala)
c.69779A>C (p.Asp23260Ala)
c.66821A>C (p.Asp22274Ala)
c.48437A>C (p.Asp16146Ala)
c.69932A>C (p.Asp23311Ala)
c.69929A>C (p.Asp23310Ala)
c.69362A>C (p.Asp23121Ala)
c.66704A>C (p.Asp22235Ala)
c.66623A>C (p.Asp22208Ala)
c.48386A>C (p.Asp16129Ala)
c.38240A>C (p.Asp12747Ala)
2g.178570641T=CA1310531191TTN,TTN-AS1c.67787A= (p.Asp22596=)
c.48872A= (p.Asp16291=)
c.48671A= (p.Asp16224=)
c.48296A= (p.Asp16099=)
c.75491A= (p.Asp25164=)
c.70568A= (p.Asp23523=)
n.447-659T=
n.2044-11931T=
c.74588A= (p.Asp24863=)
c.48482A= (p.Asp16161=)
c.48341A= (p.Asp16114=)
c.74384A= (p.Asp24795=)
c.69782A= (p.Asp23261=)
c.69779A= (p.Asp23260=)
c.66821A= (p.Asp22274=)
c.48437A= (p.Asp16146=)
c.69932A= (p.Asp23311=)
c.69929A= (p.Asp23310=)
c.69362A= (p.Asp23121=)
c.66704A= (p.Asp22235=)
c.66623A= (p.Asp22208=)
c.48386A= (p.Asp16129=)
c.38240A= (p.Asp12747=)
2g.178570642C>ACA349624833TTN,TTN-AS1c.67786G>T (p.Asp22596Tyr)
c.48871G>T (p.Asp16291Tyr)
c.48670G>T (p.Asp16224Tyr)
c.48295G>T (p.Asp16099Tyr)
c.75490G>T (p.Asp25164Tyr)
c.70567G>T (p.Asp23523Tyr)
n.447-658C>A
n.2044-11930C>A
c.74587G>T (p.Asp24863Tyr)
c.48481G>T (p.Asp16161Tyr)
c.48340G>T (p.Asp16114Tyr)
c.74383G>T (p.Asp24795Tyr)
c.69781G>T (p.Asp23261Tyr)
c.69778G>T (p.Asp23260Tyr)
c.66820G>T (p.Asp22274Tyr)
c.48436G>T (p.Asp16146Tyr)
c.69931G>T (p.Asp23311Tyr)
c.69928G>T (p.Asp23310Tyr)
c.69361G>T (p.Asp23121Tyr)
c.66703G>T (p.Asp22235Tyr)
c.66622G>T (p.Asp22208Tyr)
c.48385G>T (p.Asp16129Tyr)
c.38239G>T (p.Asp12747Tyr)
2g.178570642C=CA1310531192TTN,TTN-AS1c.67786G= (p.Asp22596=)
c.48871G= (p.Asp16291=)
c.48670G= (p.Asp16224=)
c.48295G= (p.Asp16099=)
c.75490G= (p.Asp25164=)
c.70567G= (p.Asp23523=)
n.447-658C=
n.2044-11930C=
c.74587G= (p.Asp24863=)
c.48481G= (p.Asp16161=)
c.48340G= (p.Asp16114=)
c.74383G= (p.Asp24795=)
c.69781G= (p.Asp23261=)
c.69778G= (p.Asp23260=)
c.66820G= (p.Asp22274=)
c.48436G= (p.Asp16146=)
c.69931G= (p.Asp23311=)
c.69928G= (p.Asp23310=)
c.69361G= (p.Asp23121=)
c.66703G= (p.Asp22235=)
c.66622G= (p.Asp22208=)
c.48385G= (p.Asp16129=)
c.38239G= (p.Asp12747=)
2g.178570642C>GCA349624836TTN,TTN-AS1c.67786G>C (p.Asp22596His)
c.48871G>C (p.Asp16291His)
c.48670G>C (p.Asp16224His)
c.48295G>C (p.Asp16099His)
c.75490G>C (p.Asp25164His)
c.70567G>C (p.Asp23523His)
n.447-658C>G
n.2044-11930C>G
c.74587G>C (p.Asp24863His)
c.48481G>C (p.Asp16161His)
c.48340G>C (p.Asp16114His)
c.74383G>C (p.Asp24795His)
c.69781G>C (p.Asp23261His)
c.69778G>C (p.Asp23260His)
c.66820G>C (p.Asp22274His)
c.48436G>C (p.Asp16146His)
c.69931G>C (p.Asp23311His)
c.69928G>C (p.Asp23310His)
c.69361G>C (p.Asp23121His)
c.66703G>C (p.Asp22235His)
c.66622G>C (p.Asp22208His)
c.48385G>C (p.Asp16129His)
c.38239G>C (p.Asp12747His)
2g.178570642C>TCA1990042TTN,TTN-AS1c.67786G>A (p.Asp22596Asn)
c.48871G>A (p.Asp16291Asn)
c.48670G>A (p.Asp16224Asn)
c.48295G>A (p.Asp16099Asn)
c.75490G>A (p.Asp25164Asn)
c.70567G>A (p.Asp23523Asn)
n.447-658C>T
n.2044-11930C>T
c.74587G>A (p.Asp24863Asn)
c.48481G>A (p.Asp16161Asn)
c.48340G>A (p.Asp16114Asn)
c.74383G>A (p.Asp24795Asn)
c.69781G>A (p.Asp23261Asn)
c.69778G>A (p.Asp23260Asn)
c.66820G>A (p.Asp22274Asn)
c.48436G>A (p.Asp16146Asn)
c.69931G>A (p.Asp23311Asn)
c.69928G>A (p.Asp23310Asn)
c.69361G>A (p.Asp23121Asn)
c.66703G>A (p.Asp22235Asn)
c.66622G>A (p.Asp22208Asn)
c.48385G>A (p.Asp16129Asn)
c.38239G>A (p.Asp12747Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178570643G>ACA430254959TTN,TTN-AS1c.67785C>T (p.Thr22595=)
c.48870C>T (p.Thr16290=)
c.48669C>T (p.Thr16223=)
c.48294C>T (p.Thr16098=)
c.75489C>T (p.Thr25163=)
c.70566C>T (p.Thr23522=)
n.447-657G>A
n.2044-11929G>A
c.74586C>T (p.Thr24862=)
c.48480C>T (p.Thr16160=)
c.48339C>T (p.Thr16113=)
c.74382C>T (p.Thr24794=)
c.69780C>T (p.Thr23260=)
c.69777C>T (p.Thr23259=)
c.66819C>T (p.Thr22273=)
c.48435C>T (p.Thr16145=)
c.69930C>T (p.Thr23310=)
c.69927C>T (p.Thr23309=)
c.69360C>T (p.Thr23120=)
c.66702C>T (p.Thr22234=)
c.66621C>T (p.Thr22207=)
c.48384C>T (p.Thr16128=)
c.38238C>T (p.Thr12746=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178570643G>CCA430254960TTN,TTN-AS1c.67785C>G (p.Thr22595=)
c.48870C>G (p.Thr16290=)
c.48669C>G (p.Thr16223=)
c.48294C>G (p.Thr16098=)
c.75489C>G (p.Thr25163=)
c.70566C>G (p.Thr23522=)
n.447-657G>C
n.2044-11929G>C
c.74586C>G (p.Thr24862=)
c.48480C>G (p.Thr16160=)
c.48339C>G (p.Thr16113=)
c.74382C>G (p.Thr24794=)
c.69780C>G (p.Thr23260=)
c.69777C>G (p.Thr23259=)
c.66819C>G (p.Thr22273=)
c.48435C>G (p.Thr16145=)
c.69930C>G (p.Thr23310=)
c.69927C>G (p.Thr23309=)
c.69360C>G (p.Thr23120=)
c.66702C>G (p.Thr22234=)
c.66621C>G (p.Thr22207=)
c.48384C>G (p.Thr16128=)
c.38238C>G (p.Thr12746=)
 ClinVar gnomAD v4
2g.178570643G=CA1310531193TTN,TTN-AS1c.67785C= (p.Thr22595=)
c.48870C= (p.Thr16290=)
c.48669C= (p.Thr16223=)
c.48294C= (p.Thr16098=)
c.75489C= (p.Thr25163=)
c.70566C= (p.Thr23522=)
n.447-657G=
n.2044-11929G=
c.74586C= (p.Thr24862=)
c.48480C= (p.Thr16160=)
c.48339C= (p.Thr16113=)
c.74382C= (p.Thr24794=)
c.69780C= (p.Thr23260=)
c.69777C= (p.Thr23259=)
c.66819C= (p.Thr22273=)
c.48435C= (p.Thr16145=)
c.69930C= (p.Thr23310=)
c.69927C= (p.Thr23309=)
c.69360C= (p.Thr23120=)
c.66702C= (p.Thr22234=)
c.66621C= (p.Thr22207=)
c.48384C= (p.Thr16128=)
c.38238C= (p.Thr12746=)
2g.178570643G>TCA430254961TTN,TTN-AS1c.67785C>A (p.Thr22595=)
c.48870C>A (p.Thr16290=)
c.48669C>A (p.Thr16223=)
c.48294C>A (p.Thr16098=)
c.75489C>A (p.Thr25163=)
c.70566C>A (p.Thr23522=)
n.447-657G>T
n.2044-11929G>T
c.74586C>A (p.Thr24862=)
c.48480C>A (p.Thr16160=)
c.48339C>A (p.Thr16113=)
c.74382C>A (p.Thr24794=)
c.69780C>A (p.Thr23260=)
c.69777C>A (p.Thr23259=)
c.66819C>A (p.Thr22273=)
c.48435C>A (p.Thr16145=)
c.69930C>A (p.Thr23310=)
c.69927C>A (p.Thr23309=)
c.69360C>A (p.Thr23120=)
c.66702C>A (p.Thr22234=)
c.66621C>A (p.Thr22207=)
c.48384C>A (p.Thr16128=)
c.38238C>A (p.Thr12746=)
2g.178570644dupCA2662129160TTN,TTN-AS1c.67785dup (p.Asp22596ArgfsTer?)
c.48870dup (p.Asp16291ArgfsTer?)
c.48669dup (p.Asp16224ArgfsTer?)
c.48294dup (p.Asp16099ArgfsTer?)
c.75489dup (p.Asp25164ArgfsTer?)
c.70566dup (p.Asp23523ArgfsTer?)
n.447-656dup
n.2044-11928dup
c.74586dup (p.Asp24863ArgfsTer?)
c.48480dup (p.Asp16161ArgfsTer?)
c.48339dup (p.Asp16114ArgfsTer?)
c.74382dup (p.Asp24795ArgfsTer?)
c.69780dup (p.Asp23261ArgfsTer?)
c.69777dup (p.Asp23260ArgfsTer?)
c.66819dup (p.Asp22274ArgfsTer?)
c.48435dup (p.Asp16146ArgfsTer?)
c.69930dup (p.Asp23311ArgfsTer?)
c.69927dup (p.Asp23310ArgfsTer?)
c.69360dup (p.Asp23121ArgfsTer?)
c.66702dup (p.Asp22235ArgfsTer?)
c.66621dup (p.Asp22208ArgfsTer?)
c.48384dup (p.Asp16129ArgfsTer?)
c.38238dup (p.Asp12747ArgfsTer?)
 gnomAD v4
2g.178570644G>ACA1990043TTN,TTN-AS1c.67784C>T (p.Thr22595Ile)
c.48869C>T (p.Thr16290Ile)
c.48668C>T (p.Thr16223Ile)
c.48293C>T (p.Thr16098Ile)
c.75488C>T (p.Thr25163Ile)
c.70565C>T (p.Thr23522Ile)
n.447-656G>A
n.2044-11928G>A
c.74585C>T (p.Thr24862Ile)
c.48479C>T (p.Thr16160Ile)
c.48338C>T (p.Thr16113Ile)
c.74381C>T (p.Thr24794Ile)
c.69779C>T (p.Thr23260Ile)
c.69776C>T (p.Thr23259Ile)
c.66818C>T (p.Thr22273Ile)
c.48434C>T (p.Thr16145Ile)
c.69929C>T (p.Thr23310Ile)
c.69926C>T (p.Thr23309Ile)
c.69359C>T (p.Thr23120Ile)
c.66701C>T (p.Thr22234Ile)
c.66620C>T (p.Thr22207Ile)
c.48383C>T (p.Thr16128Ile)
c.38237C>T (p.Thr12746Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178570644G>CCA349624843TTN,TTN-AS1c.67784C>G (p.Thr22595Ser)
c.48869C>G (p.Thr16290Ser)
c.48668C>G (p.Thr16223Ser)
c.48293C>G (p.Thr16098Ser)
c.75488C>G (p.Thr25163Ser)
c.70565C>G (p.Thr23522Ser)
n.447-656G>C
n.2044-11928G>C
c.74585C>G (p.Thr24862Ser)
c.48479C>G (p.Thr16160Ser)
c.48338C>G (p.Thr16113Ser)
c.74381C>G (p.Thr24794Ser)
c.69779C>G (p.Thr23260Ser)
c.69776C>G (p.Thr23259Ser)
c.66818C>G (p.Thr22273Ser)
c.48434C>G (p.Thr16145Ser)
c.69929C>G (p.Thr23310Ser)
c.69926C>G (p.Thr23309Ser)
c.69359C>G (p.Thr23120Ser)
c.66701C>G (p.Thr22234Ser)
c.66620C>G (p.Thr22207Ser)
c.48383C>G (p.Thr16128Ser)
c.38237C>G (p.Thr12746Ser)
2g.178570644G=CA1310531194TTN,TTN-AS1c.67784C= (p.Thr22595=)
c.48869C= (p.Thr16290=)
c.48668C= (p.Thr16223=)
c.48293C= (p.Thr16098=)
c.75488C= (p.Thr25163=)
c.70565C= (p.Thr23522=)
n.447-656G=
n.2044-11928G=
c.74585C= (p.Thr24862=)
c.48479C= (p.Thr16160=)
c.48338C= (p.Thr16113=)
c.74381C= (p.Thr24794=)
c.69779C= (p.Thr23260=)
c.69776C= (p.Thr23259=)
c.66818C= (p.Thr22273=)
c.48434C= (p.Thr16145=)
c.69929C= (p.Thr23310=)
c.69926C= (p.Thr23309=)
c.69359C= (p.Thr23120=)
c.66701C= (p.Thr22234=)
c.66620C= (p.Thr22207=)
c.48383C= (p.Thr16128=)
c.38237C= (p.Thr12746=)
2g.178570644G>TCA349624845TTN,TTN-AS1c.67784C>A (p.Thr22595Asn)
c.48869C>A (p.Thr16290Asn)
c.48668C>A (p.Thr16223Asn)
c.48293C>A (p.Thr16098Asn)
c.75488C>A (p.Thr25163Asn)
c.70565C>A (p.Thr23522Asn)
n.447-656G>T
n.2044-11928G>T
c.74585C>A (p.Thr24862Asn)
c.48479C>A (p.Thr16160Asn)
c.48338C>A (p.Thr16113Asn)
c.74381C>A (p.Thr24794Asn)
c.69779C>A (p.Thr23260Asn)
c.69776C>A (p.Thr23259Asn)
c.66818C>A (p.Thr22273Asn)
c.48434C>A (p.Thr16145Asn)
c.69929C>A (p.Thr23310Asn)
c.69926C>A (p.Thr23309Asn)
c.69359C>A (p.Thr23120Asn)
c.66701C>A (p.Thr22234Asn)
c.66620C>A (p.Thr22207Asn)
c.48383C>A (p.Thr16128Asn)
c.38237C>A (p.Thr12746Asn)
 gnomAD v4
2g.178570645T>ACA349624848TTN,TTN-AS1c.67783A>T (p.Thr22595Ser)
c.48868A>T (p.Thr16290Ser)
c.48667A>T (p.Thr16223Ser)
c.48292A>T (p.Thr16098Ser)
c.75487A>T (p.Thr25163Ser)
c.70564A>T (p.Thr23522Ser)
n.447-655T>A
n.2044-11927T>A
c.74584A>T (p.Thr24862Ser)
c.48478A>T (p.Thr16160Ser)
c.48337A>T (p.Thr16113Ser)
c.74380A>T (p.Thr24794Ser)
c.69778A>T (p.Thr23260Ser)
c.69775A>T (p.Thr23259Ser)
c.66817A>T (p.Thr22273Ser)
c.48433A>T (p.Thr16145Ser)
c.69928A>T (p.Thr23310Ser)
c.69925A>T (p.Thr23309Ser)
c.69358A>T (p.Thr23120Ser)
c.66700A>T (p.Thr22234Ser)
c.66619A>T (p.Thr22207Ser)
c.48382A>T (p.Thr16128Ser)
c.38236A>T (p.Thr12746Ser)
2g.178570645T>CCA60995882TTN,TTN-AS1c.67783A>G (p.Thr22595Ala)
c.48868A>G (p.Thr16290Ala)
c.48667A>G (p.Thr16223Ala)
c.48292A>G (p.Thr16098Ala)
c.75487A>G (p.Thr25163Ala)
c.70564A>G (p.Thr23522Ala)
n.447-655T>C
n.2044-11927T>C
c.74584A>G (p.Thr24862Ala)
c.48478A>G (p.Thr16160Ala)
c.48337A>G (p.Thr16113Ala)
c.74380A>G (p.Thr24794Ala)
c.69778A>G (p.Thr23260Ala)
c.69775A>G (p.Thr23259Ala)
c.66817A>G (p.Thr22273Ala)
c.48433A>G (p.Thr16145Ala)
c.69928A>G (p.Thr23310Ala)
c.69925A>G (p.Thr23309Ala)
c.69358A>G (p.Thr23120Ala)
c.66700A>G (p.Thr22234Ala)
c.66619A>G (p.Thr22207Ala)
c.48382A>G (p.Thr16128Ala)
c.38236A>G (p.Thr12746Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178570645T>GCA349624853TTN,TTN-AS1c.67783A>C (p.Thr22595Pro)
c.48868A>C (p.Thr16290Pro)
c.48667A>C (p.Thr16223Pro)
c.48292A>C (p.Thr16098Pro)
c.75487A>C (p.Thr25163Pro)
c.70564A>C (p.Thr23522Pro)
n.447-655T>G
n.2044-11927T>G
c.74584A>C (p.Thr24862Pro)
c.48478A>C (p.Thr16160Pro)
c.48337A>C (p.Thr16113Pro)
c.74380A>C (p.Thr24794Pro)
c.69778A>C (p.Thr23260Pro)
c.69775A>C (p.Thr23259Pro)
c.66817A>C (p.Thr22273Pro)
c.48433A>C (p.Thr16145Pro)
c.69928A>C (p.Thr23310Pro)
c.69925A>C (p.Thr23309Pro)
c.69358A>C (p.Thr23120Pro)
c.66700A>C (p.Thr22234Pro)
c.66619A>C (p.Thr22207Pro)
c.48382A>C (p.Thr16128Pro)
c.38236A>C (p.Thr12746Pro)
2g.178570645T=CA1310531195TTN,TTN-AS1c.67783A= (p.Thr22595=)
c.48868A= (p.Thr16290=)
c.48667A= (p.Thr16223=)
c.48292A= (p.Thr16098=)
c.75487A= (p.Thr25163=)
c.70564A= (p.Thr23522=)
n.447-655T=
n.2044-11927T=
c.74584A= (p.Thr24862=)
c.48478A= (p.Thr16160=)
c.48337A= (p.Thr16113=)
c.74380A= (p.Thr24794=)
c.69778A= (p.Thr23260=)
c.69775A= (p.Thr23259=)
c.66817A= (p.Thr22273=)
c.48433A= (p.Thr16145=)
c.69928A= (p.Thr23310=)
c.69925A= (p.Thr23309=)
c.69358A= (p.Thr23120=)
c.66700A= (p.Thr22234=)
c.66619A= (p.Thr22207=)
c.48382A= (p.Thr16128=)
c.38236A= (p.Thr12746=)
2g.178570646G>ACA430254962TTN,TTN-AS1c.67782C>T (p.Ser22594=)
c.48867C>T (p.Ser16289=)
c.48666C>T (p.Ser16222=)
c.48291C>T (p.Ser16097=)
c.75486C>T (p.Ser25162=)
c.70563C>T (p.Ser23521=)
n.447-654G>A
n.2044-11926G>A
c.74583C>T (p.Ser24861=)
c.48477C>T (p.Ser16159=)
c.48336C>T (p.Ser16112=)
c.74379C>T (p.Ser24793=)
c.69777C>T (p.Ser23259=)
c.69774C>T (p.Ser23258=)
c.66816C>T (p.Ser22272=)
c.48432C>T (p.Ser16144=)
c.69927C>T (p.Ser23309=)
c.69924C>T (p.Ser23308=)
c.69357C>T (p.Ser23119=)
c.66699C>T (p.Ser22233=)
c.66618C>T (p.Ser22206=)
c.48381C>T (p.Ser16127=)
c.38235C>T (p.Ser12745=)
2g.178570646G>CCA349624857TTN,TTN-AS1c.67782C>G (p.Ser22594Arg)
c.48867C>G (p.Ser16289Arg)
c.48666C>G (p.Ser16222Arg)
c.48291C>G (p.Ser16097Arg)
c.75486C>G (p.Ser25162Arg)
c.70563C>G (p.Ser23521Arg)
n.447-654G>C
n.2044-11926G>C
c.74583C>G (p.Ser24861Arg)
c.48477C>G (p.Ser16159Arg)
c.48336C>G (p.Ser16112Arg)
c.74379C>G (p.Ser24793Arg)
c.69777C>G (p.Ser23259Arg)
c.69774C>G (p.Ser23258Arg)
c.66816C>G (p.Ser22272Arg)
c.48432C>G (p.Ser16144Arg)
c.69927C>G (p.Ser23309Arg)
c.69924C>G (p.Ser23308Arg)
c.69357C>G (p.Ser23119Arg)
c.66699C>G (p.Ser22233Arg)
c.66618C>G (p.Ser22206Arg)
c.48381C>G (p.Ser16127Arg)
c.38235C>G (p.Ser12745Arg)
2g.178570646G>TCA349624859TTN,TTN-AS1c.67782C>A (p.Ser22594Arg)
c.48867C>A (p.Ser16289Arg)
c.48666C>A (p.Ser16222Arg)
c.48291C>A (p.Ser16097Arg)
c.75486C>A (p.Ser25162Arg)
c.70563C>A (p.Ser23521Arg)
n.447-654G>T
n.2044-11926G>T
c.74583C>A (p.Ser24861Arg)
c.48477C>A (p.Ser16159Arg)
c.48336C>A (p.Ser16112Arg)
c.74379C>A (p.Ser24793Arg)
c.69777C>A (p.Ser23259Arg)
c.69774C>A (p.Ser23258Arg)
c.66816C>A (p.Ser22272Arg)
c.48432C>A (p.Ser16144Arg)
c.69927C>A (p.Ser23309Arg)
c.69924C>A (p.Ser23308Arg)
c.69357C>A (p.Ser23119Arg)
c.66699C>A (p.Ser22233Arg)
c.66618C>A (p.Ser22206Arg)
c.48381C>A (p.Ser16127Arg)
c.38235C>A (p.Ser12745Arg)
2g.178570647C>ACA349624863TTN,TTN-AS1c.67781G>T (p.Ser22594Ile)
c.48866G>T (p.Ser16289Ile)
c.48665G>T (p.Ser16222Ile)
c.48290G>T (p.Ser16097Ile)
c.75485G>T (p.Ser25162Ile)
c.70562G>T (p.Ser23521Ile)
n.447-653C>A
n.2044-11925C>A
c.74582G>T (p.Ser24861Ile)
c.48476G>T (p.Ser16159Ile)
c.48335G>T (p.Ser16112Ile)
c.74378G>T (p.Ser24793Ile)
c.69776G>T (p.Ser23259Ile)
c.69773G>T (p.Ser23258Ile)
c.66815G>T (p.Ser22272Ile)
c.48431G>T (p.Ser16144Ile)
c.69926G>T (p.Ser23309Ile)
c.69923G>T (p.Ser23308Ile)
c.69356G>T (p.Ser23119Ile)
c.66698G>T (p.Ser22233Ile)
c.66617G>T (p.Ser22206Ile)
c.48380G>T (p.Ser16127Ile)
c.38234G>T (p.Ser12745Ile)
2g.178570647C=CA1310531196TTN,TTN-AS1c.67781G= (p.Ser22594=)
c.48866G= (p.Ser16289=)
c.48665G= (p.Ser16222=)
c.48290G= (p.Ser16097=)
c.75485G= (p.Ser25162=)
c.70562G= (p.Ser23521=)
n.447-653C=
n.2044-11925C=
c.74582G= (p.Ser24861=)
c.48476G= (p.Ser16159=)
c.48335G= (p.Ser16112=)
c.74378G= (p.Ser24793=)
c.69776G= (p.Ser23259=)
c.69773G= (p.Ser23258=)
c.66815G= (p.Ser22272=)
c.48431G= (p.Ser16144=)
c.69926G= (p.Ser23309=)
c.69923G= (p.Ser23308=)
c.69356G= (p.Ser23119=)
c.66698G= (p.Ser22233=)
c.66617G= (p.Ser22206=)
c.48380G= (p.Ser16127=)
c.38234G= (p.Ser12745=)
2g.178570647C>GCA1990044TTN,TTN-AS1c.67781G>C (p.Ser22594Thr)
c.48866G>C (p.Ser16289Thr)
c.48665G>C (p.Ser16222Thr)
c.48290G>C (p.Ser16097Thr)
c.75485G>C (p.Ser25162Thr)
c.70562G>C (p.Ser23521Thr)
n.447-653C>G
n.2044-11925C>G
c.74582G>C (p.Ser24861Thr)
c.48476G>C (p.Ser16159Thr)
c.48335G>C (p.Ser16112Thr)
c.74378G>C (p.Ser24793Thr)
c.69776G>C (p.Ser23259Thr)
c.69773G>C (p.Ser23258Thr)
c.66815G>C (p.Ser22272Thr)
c.48431G>C (p.Ser16144Thr)
c.69926G>C (p.Ser23309Thr)
c.69923G>C (p.Ser23308Thr)
c.69356G>C (p.Ser23119Thr)
c.66698G>C (p.Ser22233Thr)
c.66617G>C (p.Ser22206Thr)
c.48380G>C (p.Ser16127Thr)
c.38234G>C (p.Ser12745Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.178570647C>TCA349624871TTN,TTN-AS1c.67781G>A (p.Ser22594Asn)
c.48866G>A (p.Ser16289Asn)
c.48665G>A (p.Ser16222Asn)
c.48290G>A (p.Ser16097Asn)
c.75485G>A (p.Ser25162Asn)
c.70562G>A (p.Ser23521Asn)
n.447-653C>T
n.2044-11925C>T
c.74582G>A (p.Ser24861Asn)
c.48476G>A (p.Ser16159Asn)
c.48335G>A (p.Ser16112Asn)
c.74378G>A (p.Ser24793Asn)
c.69776G>A (p.Ser23259Asn)
c.69773G>A (p.Ser23258Asn)
c.66815G>A (p.Ser22272Asn)
c.48431G>A (p.Ser16144Asn)
c.69926G>A (p.Ser23309Asn)
c.69923G>A (p.Ser23308Asn)
c.69356G>A (p.Ser23119Asn)
c.66698G>A (p.Ser22233Asn)
c.66617G>A (p.Ser22206Asn)
c.48380G>A (p.Ser16127Asn)
c.38234G>A (p.Ser12745Asn)
 gnomAD v4
2g.178570648T>ACA349624875TTN,TTN-AS1c.67780A>T (p.Ser22594Cys)
c.48865A>T (p.Ser16289Cys)
c.48664A>T (p.Ser16222Cys)
c.48289A>T (p.Ser16097Cys)
c.75484A>T (p.Ser25162Cys)
c.70561A>T (p.Ser23521Cys)
n.447-652T>A
n.2044-11924T>A
c.74581A>T (p.Ser24861Cys)
c.48475A>T (p.Ser16159Cys)
c.48334A>T (p.Ser16112Cys)
c.74377A>T (p.Ser24793Cys)
c.69775A>T (p.Ser23259Cys)
c.69772A>T (p.Ser23258Cys)
c.66814A>T (p.Ser22272Cys)
c.48430A>T (p.Ser16144Cys)
c.69925A>T (p.Ser23309Cys)
c.69922A>T (p.Ser23308Cys)
c.69355A>T (p.Ser23119Cys)
c.66697A>T (p.Ser22233Cys)
c.66616A>T (p.Ser22206Cys)
c.48379A>T (p.Ser16127Cys)
c.38233A>T (p.Ser12745Cys)
2g.178570648T>CCA60995897TTN,TTN-AS1c.67780A>G (p.Ser22594Gly)
c.48865A>G (p.Ser16289Gly)
c.48664A>G (p.Ser16222Gly)
c.48289A>G (p.Ser16097Gly)
c.75484A>G (p.Ser25162Gly)
c.70561A>G (p.Ser23521Gly)
n.447-652T>C
n.2044-11924T>C
c.74581A>G (p.Ser24861Gly)
c.48475A>G (p.Ser16159Gly)
c.48334A>G (p.Ser16112Gly)
c.74377A>G (p.Ser24793Gly)
c.69775A>G (p.Ser23259Gly)
c.69772A>G (p.Ser23258Gly)
c.66814A>G (p.Ser22272Gly)
c.48430A>G (p.Ser16144Gly)
c.69925A>G (p.Ser23309Gly)
c.69922A>G (p.Ser23308Gly)
c.69355A>G (p.Ser23119Gly)
c.66697A>G (p.Ser22233Gly)
c.66616A>G (p.Ser22206Gly)
c.48379A>G (p.Ser16127Gly)
c.38233A>G (p.Ser12745Gly)
 dbSNP gnomAD v2
2g.178570648T>GCA349624873TTN,TTN-AS1c.67780A>C (p.Ser22594Arg)
c.48865A>C (p.Ser16289Arg)
c.48664A>C (p.Ser16222Arg)
c.48289A>C (p.Ser16097Arg)
c.75484A>C (p.Ser25162Arg)
c.70561A>C (p.Ser23521Arg)
n.447-652T>G
n.2044-11924T>G
c.74581A>C (p.Ser24861Arg)
c.48475A>C (p.Ser16159Arg)
c.48334A>C (p.Ser16112Arg)
c.74377A>C (p.Ser24793Arg)
c.69775A>C (p.Ser23259Arg)
c.69772A>C (p.Ser23258Arg)
c.66814A>C (p.Ser22272Arg)
c.48430A>C (p.Ser16144Arg)
c.69925A>C (p.Ser23309Arg)
c.69922A>C (p.Ser23308Arg)
c.69355A>C (p.Ser23119Arg)
c.66697A>C (p.Ser22233Arg)
c.66616A>C (p.Ser22206Arg)
c.48379A>C (p.Ser16127Arg)
c.38233A>C (p.Ser12745Arg)
2g.178570648T=CA1310531197TTN,TTN-AS1c.67780A= (p.Ser22594=)
c.48865A= (p.Ser16289=)
c.48664A= (p.Ser16222=)
c.48289A= (p.Ser16097=)
c.75484A= (p.Ser25162=)
c.70561A= (p.Ser23521=)
n.447-652T=
n.2044-11924T=
c.74581A= (p.Ser24861=)
c.48475A= (p.Ser16159=)
c.48334A= (p.Ser16112=)
c.74377A= (p.Ser24793=)
c.69775A= (p.Ser23259=)
c.69772A= (p.Ser23258=)
c.66814A= (p.Ser22272=)
c.48430A= (p.Ser16144=)
c.69925A= (p.Ser23309=)
c.69922A= (p.Ser23308=)
c.69355A= (p.Ser23119=)
c.66697A= (p.Ser22233=)
c.66616A= (p.Ser22206=)
c.48379A= (p.Ser16127=)
c.38233A= (p.Ser12745=)
2g.178570649C>ACA349624879TTN,TTN-AS1c.67779G>T (p.Lys22593Asn)
c.48864G>T (p.Lys16288Asn)
c.48663G>T (p.Lys16221Asn)
c.48288G>T (p.Lys16096Asn)
c.75483G>T (p.Lys25161Asn)
c.70560G>T (p.Lys23520Asn)
n.447-651C>A
n.2044-11923C>A
c.74580G>T (p.Lys24860Asn)
c.48474G>T (p.Lys16158Asn)
c.48333G>T (p.Lys16111Asn)
c.74376G>T (p.Lys24792Asn)
c.69774G>T (p.Lys23258Asn)
c.69771G>T (p.Lys23257Asn)
c.66813G>T (p.Lys22271Asn)
c.48429G>T (p.Lys16143Asn)
c.69924G>T (p.Lys23308Asn)
c.69921G>T (p.Lys23307Asn)
c.69354G>T (p.Lys23118Asn)
c.66696G>T (p.Lys22232Asn)
c.66615G>T (p.Lys22205Asn)
c.48378G>T (p.Lys16126Asn)
c.38232G>T (p.Lys12744Asn)
2g.178570649C=CA1310531200TTN,TTN-AS1c.67779G= (p.Lys22593=)
c.48864G= (p.Lys16288=)
c.48663G= (p.Lys16221=)
c.48288G= (p.Lys16096=)
c.75483G= (p.Lys25161=)
c.70560G= (p.Lys23520=)
n.447-651C=
n.2044-11923C=
c.74580G= (p.Lys24860=)
c.48474G= (p.Lys16158=)
c.48333G= (p.Lys16111=)
c.74376G= (p.Lys24792=)
c.69774G= (p.Lys23258=)
c.69771G= (p.Lys23257=)
c.66813G= (p.Lys22271=)
c.48429G= (p.Lys16143=)
c.69924G= (p.Lys23308=)
c.69921G= (p.Lys23307=)
c.69354G= (p.Lys23118=)
c.66696G= (p.Lys22232=)
c.66615G= (p.Lys22205=)
c.48378G= (p.Lys16126=)
c.38232G= (p.Lys12744=)
2g.178570649C>GCA349624882TTN,TTN-AS1c.67779G>C (p.Lys22593Asn)
c.48864G>C (p.Lys16288Asn)
c.48663G>C (p.Lys16221Asn)
c.48288G>C (p.Lys16096Asn)
c.75483G>C (p.Lys25161Asn)
c.70560G>C (p.Lys23520Asn)
n.447-651C>G
n.2044-11923C>G
c.74580G>C (p.Lys24860Asn)
c.48474G>C (p.Lys16158Asn)
c.48333G>C (p.Lys16111Asn)
c.74376G>C (p.Lys24792Asn)
c.69774G>C (p.Lys23258Asn)
c.69771G>C (p.Lys23257Asn)
c.66813G>C (p.Lys22271Asn)
c.48429G>C (p.Lys16143Asn)
c.69924G>C (p.Lys23308Asn)
c.69921G>C (p.Lys23307Asn)
c.69354G>C (p.Lys23118Asn)
c.66696G>C (p.Lys22232Asn)
c.66615G>C (p.Lys22205Asn)
c.48378G>C (p.Lys16126Asn)
c.38232G>C (p.Lys12744Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178570649C>TCA430254963TTN,TTN-AS1c.67779G>A (p.Lys22593=)
c.48864G>A (p.Lys16288=)
c.48663G>A (p.Lys16221=)
c.48288G>A (p.Lys16096=)
c.75483G>A (p.Lys25161=)
c.70560G>A (p.Lys23520=)
n.447-651C>T
n.2044-11923C>T
c.74580G>A (p.Lys24860=)
c.48474G>A (p.Lys16158=)
c.48333G>A (p.Lys16111=)
c.74376G>A (p.Lys24792=)
c.69774G>A (p.Lys23258=)
c.69771G>A (p.Lys23257=)
c.66813G>A (p.Lys22271=)
c.48429G>A (p.Lys16143=)
c.69924G>A (p.Lys23308=)
c.69921G>A (p.Lys23307=)
c.69354G>A (p.Lys23118=)
c.66696G>A (p.Lys22232=)
c.66615G>A (p.Lys22205=)
c.48378G>A (p.Lys16126=)
c.38232G>A (p.Lys12744=)
2g.178570649_178570650delinsCTCA1310531198TTN,TTN-AS1c.67778_67779delinsAG (p.Lys22593=)
c.48863_48864delinsAG (p.Lys16288=)
c.48662_48663delinsAG (p.Lys16221=)
c.48287_48288delinsAG (p.Lys16096=)
c.75482_75483delinsAG (p.Lys25161=)
c.70559_70560delinsAG (p.Lys23520=)
n.447-651_447-650delinsCT
n.2044-11923_2044-11922delinsCT
c.74579_74580delinsAG (p.Lys24860=)
c.48473_48474delinsAG (p.Lys16158=)
c.48332_48333delinsAG (p.Lys16111=)
c.74375_74376delinsAG (p.Lys24792=)
c.69773_69774delinsAG (p.Lys23258=)
c.69770_69771delinsAG (p.Lys23257=)
c.66812_66813delinsAG (p.Lys22271=)
c.48428_48429delinsAG (p.Lys16143=)
c.69923_69924delinsAG (p.Lys23308=)
c.69920_69921delinsAG (p.Lys23307=)
c.69353_69354delinsAG (p.Lys23118=)
c.66695_66696delinsAG (p.Lys22232=)
c.66614_66615delinsAG (p.Lys22205=)
c.48377_48378delinsAG (p.Lys16126=)
c.38231_38232delinsAG (p.Lys12744=)
2g.178570649_178570653delinsCTTTACA1310531199TTN,TTN-AS1c.67775_67779delinsTAAAG (p.Ile22592=)
c.48860_48864delinsTAAAG (p.Ile16287=)
c.48659_48663delinsTAAAG (p.Ile16220=)
c.48284_48288delinsTAAAG (p.Ile16095=)
c.75479_75483delinsTAAAG (p.Ile25160=)
c.70556_70560delinsTAAAG (p.Ile23519=)
n.447-651_447-647delinsCTTTA
n.2044-11923_2044-11919delinsCTTTA
c.74576_74580delinsTAAAG (p.Ile24859=)
c.48470_48474delinsTAAAG (p.Ile16157=)
c.48329_48333delinsTAAAG (p.Ile16110=)
c.74372_74376delinsTAAAG (p.Ile24791=)
c.69770_69774delinsTAAAG (p.Ile23257=)
c.69767_69771delinsTAAAG (p.Ile23256=)
c.66809_66813delinsTAAAG (p.Ile22270=)
c.48425_48429delinsTAAAG (p.Ile16142=)
c.69920_69924delinsTAAAG (p.Ile23307=)
c.69917_69921delinsTAAAG (p.Ile23306=)
c.69350_69354delinsTAAAG (p.Ile23117=)
c.66692_66696delinsTAAAG (p.Ile22231=)
c.66611_66615delinsTAAAG (p.Ile22204=)
c.48374_48378delinsTAAAG (p.Ile16125=)
c.38228_38232delinsTAAAG (p.Ile12743=)
2g.178570650T>ACA349624886TTN,TTN-AS1c.67778A>T (p.Lys22593Met)
c.48863A>T (p.Lys16288Met)
c.48662A>T (p.Lys16221Met)
c.48287A>T (p.Lys16096Met)
c.75482A>T (p.Lys25161Met)
c.70559A>T (p.Lys23520Met)
n.447-650T>A
n.2044-11922T>A
c.74579A>T (p.Lys24860Met)
c.48473A>T (p.Lys16158Met)
c.48332A>T (p.Lys16111Met)
c.74375A>T (p.Lys24792Met)
c.69773A>T (p.Lys23258Met)
c.69770A>T (p.Lys23257Met)
c.66812A>T (p.Lys22271Met)
c.48428A>T (p.Lys16143Met)
c.69923A>T (p.Lys23308Met)
c.69920A>T (p.Lys23307Met)
c.69353A>T (p.Lys23118Met)
c.66695A>T (p.Lys22232Met)
c.66614A>T (p.Lys22205Met)
c.48377A>T (p.Lys16126Met)
c.38231A>T (p.Lys12744Met)
2g.178570650T>CCA349624890TTN,TTN-AS1c.67778A>G (p.Lys22593Arg)
c.48863A>G (p.Lys16288Arg)
c.48662A>G (p.Lys16221Arg)
c.48287A>G (p.Lys16096Arg)
c.75482A>G (p.Lys25161Arg)
c.70559A>G (p.Lys23520Arg)
n.447-650T>C
n.2044-11922T>C
c.74579A>G (p.Lys24860Arg)
c.48473A>G (p.Lys16158Arg)
c.48332A>G (p.Lys16111Arg)
c.74375A>G (p.Lys24792Arg)
c.69773A>G (p.Lys23258Arg)
c.69770A>G (p.Lys23257Arg)
c.66812A>G (p.Lys22271Arg)
c.48428A>G (p.Lys16143Arg)
c.69923A>G (p.Lys23308Arg)
c.69920A>G (p.Lys23307Arg)
c.69353A>G (p.Lys23118Arg)
c.66695A>G (p.Lys22232Arg)
c.66614A>G (p.Lys22205Arg)
c.48377A>G (p.Lys16126Arg)
c.38231A>G (p.Lys12744Arg)
2g.178570650T>GCA349624903TTN,TTN-AS1c.67778A>C (p.Lys22593Thr)
c.48863A>C (p.Lys16288Thr)
c.48662A>C (p.Lys16221Thr)
c.48287A>C (p.Lys16096Thr)
c.75482A>C (p.Lys25161Thr)
c.70559A>C (p.Lys23520Thr)
n.447-650T>G
n.2044-11922T>G
c.74579A>C (p.Lys24860Thr)
c.48473A>C (p.Lys16158Thr)
c.48332A>C (p.Lys16111Thr)
c.74375A>C (p.Lys24792Thr)
c.69773A>C (p.Lys23258Thr)
c.69770A>C (p.Lys23257Thr)
c.66812A>C (p.Lys22271Thr)
c.48428A>C (p.Lys16143Thr)
c.69923A>C (p.Lys23308Thr)
c.69920A>C (p.Lys23307Thr)
c.69353A>C (p.Lys23118Thr)
c.66695A>C (p.Lys22232Thr)
c.66614A>C (p.Lys22205Thr)
c.48377A>C (p.Lys16126Thr)
c.38231A>C (p.Lys12744Thr)
2g.178570652dupCA2740096016TTN,TTN-AS1c.67778dup (p.Ser22594GlufsTer?)
c.48863dup (p.Ser16289GlufsTer?)
c.48662dup (p.Ser16222GlufsTer?)
c.48287dup (p.Ser16097GlufsTer?)
c.75482dup (p.Ser25162GlufsTer?)
c.70559dup (p.Ser23521GlufsTer?)
n.447-648dup
n.2044-11920dup
c.74579dup (p.Ser24861GlufsTer?)
c.48473dup (p.Ser16159GlufsTer?)
c.48332dup (p.Ser16112GlufsTer?)
c.74375dup (p.Ser24793GlufsTer?)
c.69773dup (p.Ser23259GlufsTer?)
c.69770dup (p.Ser23258GlufsTer?)
c.66812dup (p.Ser22272GlufsTer?)
c.48428dup (p.Ser16144GlufsTer?)
c.69923dup (p.Ser23309GlufsTer?)
c.69920dup (p.Ser23308GlufsTer?)
c.69353dup (p.Ser23119GlufsTer?)
c.66695dup (p.Ser22233GlufsTer?)
c.66614dup (p.Ser22206GlufsTer?)
c.48377dup (p.Ser16127GlufsTer?)
c.38231dup (p.Ser12745GlufsTer?)
 ClinVar
2g.178570652delCA1990045TTN,TTN-AS1c.67778del (p.Lys22593ArgfsTer11)
c.48863del (p.Lys16288ArgfsTer11)
c.48662del (p.Lys16221ArgfsTer11)
c.48287del (p.Lys16096ArgfsTer11)
c.75482del (p.Lys25161ArgfsTer11)
c.70559del (p.Lys23520ArgfsTer11)
n.447-648del
n.2044-11920del
c.74579del (p.Lys24860ArgfsTer11)
c.48473del (p.Lys16158ArgfsTer11)
c.48332del (p.Lys16111ArgfsTer11)
c.74375del (p.Lys24792ArgfsTer11)
c.69773del (p.Lys23258ArgfsTer11)
c.69770del (p.Lys23257ArgfsTer11)
c.66812del (p.Lys22271ArgfsTer11)
c.48428del (p.Lys16143ArgfsTer11)
c.69923del (p.Lys23308ArgfsTer11)
c.69920del (p.Lys23307ArgfsTer11)
c.69353del (p.Lys23118ArgfsTer11)
c.66695del (p.Lys22232ArgfsTer11)
c.66614del (p.Lys22205ArgfsTer11)
c.48377del (p.Lys16126ArgfsTer11)
c.38231del (p.Lys12744ArgfsTer11)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178570653_178570656delCA658796031TTN,TTN-AS1c.67775_67778del (p.Ile22592ArgfsTer11)
c.48860_48863del (p.Ile16287ArgfsTer11)
c.48659_48662del (p.Ile16220ArgfsTer11)
c.48284_48287del (p.Ile16095ArgfsTer11)
c.75479_75482del (p.Ile25160ArgfsTer11)
c.70556_70559del (p.Ile23519ArgfsTer11)
n.447-647_447-644del
n.2044-11919_2044-11916del
c.74576_74579del (p.Ile24859ArgfsTer11)
c.48470_48473del (p.Ile16157ArgfsTer11)
c.48329_48332del (p.Ile16110ArgfsTer11)
c.74372_74375del (p.Ile24791ArgfsTer11)
c.69770_69773del (p.Ile23257ArgfsTer11)
c.69767_69770del (p.Ile23256ArgfsTer11)
c.66809_66812del (p.Ile22270ArgfsTer11)
c.48425_48428del (p.Ile16142ArgfsTer11)
c.69920_69923del (p.Ile23307ArgfsTer11)
c.69917_69920del (p.Ile23306ArgfsTer11)
c.69350_69353del (p.Ile23117ArgfsTer11)
c.66692_66695del (p.Ile22231ArgfsTer11)
c.66611_66614del (p.Ile22204ArgfsTer11)
c.48374_48377del (p.Ile16125ArgfsTer11)
c.38228_38231del (p.Ile12743ArgfsTer11)
 ClinVar dbSNP
2g.178570651T>ACA349624910TTN,TTN-AS1c.67777A>T (p.Lys22593Ter)
c.48862A>T (p.Lys16288Ter)
c.48661A>T (p.Lys16221Ter)
c.48286A>T (p.Lys16096Ter)
c.75481A>T (p.Lys25161Ter)
c.70558A>T (p.Lys23520Ter)
n.447-649T>A
n.2044-11921T>A
c.74578A>T (p.Lys24860Ter)
c.48472A>T (p.Lys16158Ter)
c.48331A>T (p.Lys16111Ter)
c.74374A>T (p.Lys24792Ter)
c.69772A>T (p.Lys23258Ter)
c.69769A>T (p.Lys23257Ter)
c.66811A>T (p.Lys22271Ter)
c.48427A>T (p.Lys16143Ter)
c.69922A>T (p.Lys23308Ter)
c.69919A>T (p.Lys23307Ter)
c.69352A>T (p.Lys23118Ter)
c.66694A>T (p.Lys22232Ter)
c.66613A>T (p.Lys22205Ter)
c.48376A>T (p.Lys16126Ter)
c.38230A>T (p.Lys12744Ter)

Number of alleles fetched