Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178567291C>ACA349600907TTN,TTN-AS1c.71137G>T (p.Val23713Leu)
c.52222G>T (p.Val17408Leu)
c.52021G>T (p.Val17341Leu)
c.51646G>T (p.Val17216Leu)
c.78841G>T (p.Val26281Leu)
c.73918G>T (p.Val24640Leu)
n.447-4009C>A
n.2044-15281C>A
c.77938G>T (p.Val25980Leu)
c.51832G>T (p.Val17278Leu)
c.51691G>T (p.Val17231Leu)
c.77734G>T (p.Val25912Leu)
c.73132G>T (p.Val24378Leu)
c.73129G>T (p.Val24377Leu)
c.70171G>T (p.Val23391Leu)
c.51787G>T (p.Val17263Leu)
c.73282G>T (p.Val24428Leu)
c.73279G>T (p.Val24427Leu)
c.72712G>T (p.Val24238Leu)
c.70054G>T (p.Val23352Leu)
c.69973G>T (p.Val23325Leu)
c.51736G>T (p.Val17246Leu)
c.41590G>T (p.Val13864Leu)
2g.178567291C=CA1310529863TTN,TTN-AS1c.71137G= (p.Val23713=)
c.52222G= (p.Val17408=)
c.52021G= (p.Val17341=)
c.51646G= (p.Val17216=)
c.78841G= (p.Val26281=)
c.73918G= (p.Val24640=)
n.447-4009C=
n.2044-15281C=
c.77938G= (p.Val25980=)
c.51832G= (p.Val17278=)
c.51691G= (p.Val17231=)
c.77734G= (p.Val25912=)
c.73132G= (p.Val24378=)
c.73129G= (p.Val24377=)
c.70171G= (p.Val23391=)
c.51787G= (p.Val17263=)
c.73282G= (p.Val24428=)
c.73279G= (p.Val24427=)
c.72712G= (p.Val24238=)
c.70054G= (p.Val23352=)
c.69973G= (p.Val23325=)
c.51736G= (p.Val17246=)
c.41590G= (p.Val13864=)
2g.178567291C>GCA349600908TTN,TTN-AS1c.71137G>C (p.Val23713Leu)
c.52222G>C (p.Val17408Leu)
c.52021G>C (p.Val17341Leu)
c.51646G>C (p.Val17216Leu)
c.78841G>C (p.Val26281Leu)
c.73918G>C (p.Val24640Leu)
n.447-4009C>G
n.2044-15281C>G
c.77938G>C (p.Val25980Leu)
c.51832G>C (p.Val17278Leu)
c.51691G>C (p.Val17231Leu)
c.77734G>C (p.Val25912Leu)
c.73132G>C (p.Val24378Leu)
c.73129G>C (p.Val24377Leu)
c.70171G>C (p.Val23391Leu)
c.51787G>C (p.Val17263Leu)
c.73282G>C (p.Val24428Leu)
c.73279G>C (p.Val24427Leu)
c.72712G>C (p.Val24238Leu)
c.70054G>C (p.Val23352Leu)
c.69973G>C (p.Val23325Leu)
c.51736G>C (p.Val17246Leu)
c.41590G>C (p.Val13864Leu)
2g.178567291C>TCA1989558TTN,TTN-AS1c.71137G>A (p.Val23713Ile)
c.52222G>A (p.Val17408Ile)
c.52021G>A (p.Val17341Ile)
c.51646G>A (p.Val17216Ile)
c.78841G>A (p.Val26281Ile)
c.73918G>A (p.Val24640Ile)
n.447-4009C>T
n.2044-15281C>T
c.77938G>A (p.Val25980Ile)
c.51832G>A (p.Val17278Ile)
c.51691G>A (p.Val17231Ile)
c.77734G>A (p.Val25912Ile)
c.73132G>A (p.Val24378Ile)
c.73129G>A (p.Val24377Ile)
c.70171G>A (p.Val23391Ile)
c.51787G>A (p.Val17263Ile)
c.73282G>A (p.Val24428Ile)
c.73279G>A (p.Val24427Ile)
c.72712G>A (p.Val24238Ile)
c.70054G>A (p.Val23352Ile)
c.69973G>A (p.Val23325Ile)
c.51736G>A (p.Val17246Ile)
c.41590G>A (p.Val13864Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178567292A>CCA349600911TTN,TTN-AS1c.71136T>G (p.Asn23712Lys)
c.52221T>G (p.Asn17407Lys)
c.52020T>G (p.Asn17340Lys)
c.51645T>G (p.Asn17215Lys)
c.78840T>G (p.Asn26280Lys)
c.73917T>G (p.Asn24639Lys)
n.447-4008A>C
n.2044-15280A>C
c.77937T>G (p.Asn25979Lys)
c.51831T>G (p.Asn17277Lys)
c.51690T>G (p.Asn17230Lys)
c.77733T>G (p.Asn25911Lys)
c.73131T>G (p.Asn24377Lys)
c.73128T>G (p.Asn24376Lys)
c.70170T>G (p.Asn23390Lys)
c.51786T>G (p.Asn17262Lys)
c.73281T>G (p.Asn24427Lys)
c.73278T>G (p.Asn24426Lys)
c.72711T>G (p.Asn24237Lys)
c.70053T>G (p.Asn23351Lys)
c.69972T>G (p.Asn23324Lys)
c.51735T>G (p.Asn17245Lys)
c.41589T>G (p.Asn13863Lys)
2g.178567292A>GCA430253058TTN,TTN-AS1c.71136T>C (p.Asn23712=)
c.52221T>C (p.Asn17407=)
c.52020T>C (p.Asn17340=)
c.51645T>C (p.Asn17215=)
c.78840T>C (p.Asn26280=)
c.73917T>C (p.Asn24639=)
n.447-4008A>G
n.2044-15280A>G
c.77937T>C (p.Asn25979=)
c.51831T>C (p.Asn17277=)
c.51690T>C (p.Asn17230=)
c.77733T>C (p.Asn25911=)
c.73131T>C (p.Asn24377=)
c.73128T>C (p.Asn24376=)
c.70170T>C (p.Asn23390=)
c.51786T>C (p.Asn17262=)
c.73281T>C (p.Asn24427=)
c.73278T>C (p.Asn24426=)
c.72711T>C (p.Asn24237=)
c.70053T>C (p.Asn23351=)
c.69972T>C (p.Asn23324=)
c.51735T>C (p.Asn17245=)
c.41589T>C (p.Asn13863=)
2g.178567292A>TCA349600912TTN,TTN-AS1c.71136T>A (p.Asn23712Lys)
c.52221T>A (p.Asn17407Lys)
c.52020T>A (p.Asn17340Lys)
c.51645T>A (p.Asn17215Lys)
c.78840T>A (p.Asn26280Lys)
c.73917T>A (p.Asn24639Lys)
n.447-4008A>T
n.2044-15280A>T
c.77937T>A (p.Asn25979Lys)
c.51831T>A (p.Asn17277Lys)
c.51690T>A (p.Asn17230Lys)
c.77733T>A (p.Asn25911Lys)
c.73131T>A (p.Asn24377Lys)
c.73128T>A (p.Asn24376Lys)
c.70170T>A (p.Asn23390Lys)
c.51786T>A (p.Asn17262Lys)
c.73281T>A (p.Asn24427Lys)
c.73278T>A (p.Asn24426Lys)
c.72711T>A (p.Asn24237Lys)
c.70053T>A (p.Asn23351Lys)
c.69972T>A (p.Asn23324Lys)
c.51735T>A (p.Asn17245Lys)
c.41589T>A (p.Asn13863Lys)
2g.178567293T>ACA349600914TTN,TTN-AS1c.71135A>T (p.Asn23712Ile)
c.52220A>T (p.Asn17407Ile)
c.52019A>T (p.Asn17340Ile)
c.51644A>T (p.Asn17215Ile)
c.78839A>T (p.Asn26280Ile)
c.73916A>T (p.Asn24639Ile)
n.447-4007T>A
n.2044-15279T>A
c.77936A>T (p.Asn25979Ile)
c.51830A>T (p.Asn17277Ile)
c.51689A>T (p.Asn17230Ile)
c.77732A>T (p.Asn25911Ile)
c.73130A>T (p.Asn24377Ile)
c.73127A>T (p.Asn24376Ile)
c.70169A>T (p.Asn23390Ile)
c.51785A>T (p.Asn17262Ile)
c.73280A>T (p.Asn24427Ile)
c.73277A>T (p.Asn24426Ile)
c.72710A>T (p.Asn24237Ile)
c.70052A>T (p.Asn23351Ile)
c.69971A>T (p.Asn23324Ile)
c.51734A>T (p.Asn17245Ile)
c.41588A>T (p.Asn13863Ile)
2g.178567293T>CCA349600915TTN,TTN-AS1c.71135A>G (p.Asn23712Ser)
c.52220A>G (p.Asn17407Ser)
c.52019A>G (p.Asn17340Ser)
c.51644A>G (p.Asn17215Ser)
c.78839A>G (p.Asn26280Ser)
c.73916A>G (p.Asn24639Ser)
n.447-4007T>C
n.2044-15279T>C
c.77936A>G (p.Asn25979Ser)
c.51830A>G (p.Asn17277Ser)
c.51689A>G (p.Asn17230Ser)
c.77732A>G (p.Asn25911Ser)
c.73130A>G (p.Asn24377Ser)
c.73127A>G (p.Asn24376Ser)
c.70169A>G (p.Asn23390Ser)
c.51785A>G (p.Asn17262Ser)
c.73280A>G (p.Asn24427Ser)
c.73277A>G (p.Asn24426Ser)
c.72710A>G (p.Asn24237Ser)
c.70052A>G (p.Asn23351Ser)
c.69971A>G (p.Asn23324Ser)
c.51734A>G (p.Asn17245Ser)
c.41588A>G (p.Asn13863Ser)
2g.178567293T>GCA1989559TTN,TTN-AS1c.71135A>C (p.Asn23712Thr)
c.52220A>C (p.Asn17407Thr)
c.52019A>C (p.Asn17340Thr)
c.51644A>C (p.Asn17215Thr)
c.78839A>C (p.Asn26280Thr)
c.73916A>C (p.Asn24639Thr)
n.447-4007T>G
n.2044-15279T>G
c.77936A>C (p.Asn25979Thr)
c.51830A>C (p.Asn17277Thr)
c.51689A>C (p.Asn17230Thr)
c.77732A>C (p.Asn25911Thr)
c.73130A>C (p.Asn24377Thr)
c.73127A>C (p.Asn24376Thr)
c.70169A>C (p.Asn23390Thr)
c.51785A>C (p.Asn17262Thr)
c.73280A>C (p.Asn24427Thr)
c.73277A>C (p.Asn24426Thr)
c.72710A>C (p.Asn24237Thr)
c.70052A>C (p.Asn23351Thr)
c.69971A>C (p.Asn23324Thr)
c.51734A>C (p.Asn17245Thr)
c.41588A>C (p.Asn13863Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178567293T=CA1310529864TTN,TTN-AS1c.71135A= (p.Asn23712=)
c.52220A= (p.Asn17407=)
c.52019A= (p.Asn17340=)
c.51644A= (p.Asn17215=)
c.78839A= (p.Asn26280=)
c.73916A= (p.Asn24639=)
n.447-4007T=
n.2044-15279T=
c.77936A= (p.Asn25979=)
c.51830A= (p.Asn17277=)
c.51689A= (p.Asn17230=)
c.77732A= (p.Asn25911=)
c.73130A= (p.Asn24377=)
c.73127A= (p.Asn24376=)
c.70169A= (p.Asn23390=)
c.51785A= (p.Asn17262=)
c.73280A= (p.Asn24427=)
c.73277A= (p.Asn24426=)
c.72710A= (p.Asn24237=)
c.70052A= (p.Asn23351=)
c.69971A= (p.Asn23324=)
c.51734A= (p.Asn17245=)
c.41588A= (p.Asn13863=)
2g.178567294T>ACA349600920TTN,TTN-AS1c.71134A>T (p.Asn23712Tyr)
c.52219A>T (p.Asn17407Tyr)
c.52018A>T (p.Asn17340Tyr)
c.51643A>T (p.Asn17215Tyr)
c.78838A>T (p.Asn26280Tyr)
c.73915A>T (p.Asn24639Tyr)
n.447-4006T>A
n.2044-15278T>A
c.77935A>T (p.Asn25979Tyr)
c.51829A>T (p.Asn17277Tyr)
c.51688A>T (p.Asn17230Tyr)
c.77731A>T (p.Asn25911Tyr)
c.73129A>T (p.Asn24377Tyr)
c.73126A>T (p.Asn24376Tyr)
c.70168A>T (p.Asn23390Tyr)
c.51784A>T (p.Asn17262Tyr)
c.73279A>T (p.Asn24427Tyr)
c.73276A>T (p.Asn24426Tyr)
c.72709A>T (p.Asn24237Tyr)
c.70051A>T (p.Asn23351Tyr)
c.69970A>T (p.Asn23324Tyr)
c.51733A>T (p.Asn17245Tyr)
c.41587A>T (p.Asn13863Tyr)
2g.178567294T>CCA349600918TTN,TTN-AS1c.71134A>G (p.Asn23712Asp)
c.52219A>G (p.Asn17407Asp)
c.52018A>G (p.Asn17340Asp)
c.51643A>G (p.Asn17215Asp)
c.78838A>G (p.Asn26280Asp)
c.73915A>G (p.Asn24639Asp)
n.447-4006T>C
n.2044-15278T>C
c.77935A>G (p.Asn25979Asp)
c.51829A>G (p.Asn17277Asp)
c.51688A>G (p.Asn17230Asp)
c.77731A>G (p.Asn25911Asp)
c.73129A>G (p.Asn24377Asp)
c.73126A>G (p.Asn24376Asp)
c.70168A>G (p.Asn23390Asp)
c.51784A>G (p.Asn17262Asp)
c.73279A>G (p.Asn24427Asp)
c.73276A>G (p.Asn24426Asp)
c.72709A>G (p.Asn24237Asp)
c.70051A>G (p.Asn23351Asp)
c.69970A>G (p.Asn23324Asp)
c.51733A>G (p.Asn17245Asp)
c.41587A>G (p.Asn13863Asp)
2g.178567294T>GCA349600919TTN,TTN-AS1c.71134A>C (p.Asn23712His)
c.52219A>C (p.Asn17407His)
c.52018A>C (p.Asn17340His)
c.51643A>C (p.Asn17215His)
c.78838A>C (p.Asn26280His)
c.73915A>C (p.Asn24639His)
n.447-4006T>G
n.2044-15278T>G
c.77935A>C (p.Asn25979His)
c.51829A>C (p.Asn17277His)
c.51688A>C (p.Asn17230His)
c.77731A>C (p.Asn25911His)
c.73129A>C (p.Asn24377His)
c.73126A>C (p.Asn24376His)
c.70168A>C (p.Asn23390His)
c.51784A>C (p.Asn17262His)
c.73279A>C (p.Asn24427His)
c.73276A>C (p.Asn24426His)
c.72709A>C (p.Asn24237His)
c.70051A>C (p.Asn23351His)
c.69970A>C (p.Asn23324His)
c.51733A>C (p.Asn17245His)
c.41587A>C (p.Asn13863His)
 gnomAD v4
2g.178567295T>ACA430253063TTN,TTN-AS1c.71133A>T (p.Val23711=)
c.52218A>T (p.Val17406=)
c.52017A>T (p.Val17339=)
c.51642A>T (p.Val17214=)
c.78837A>T (p.Val26279=)
c.73914A>T (p.Val24638=)
n.447-4005T>A
n.2044-15277T>A
c.77934A>T (p.Val25978=)
c.51828A>T (p.Val17276=)
c.51687A>T (p.Val17229=)
c.77730A>T (p.Val25910=)
c.73128A>T (p.Val24376=)
c.73125A>T (p.Val24375=)
c.70167A>T (p.Val23389=)
c.51783A>T (p.Val17261=)
c.73278A>T (p.Val24426=)
c.73275A>T (p.Val24425=)
c.72708A>T (p.Val24236=)
c.70050A>T (p.Val23350=)
c.69969A>T (p.Val23323=)
c.51732A>T (p.Val17244=)
c.41586A>T (p.Val13862=)
2g.178567295T>CCA1989560TTN,TTN-AS1c.71133A>G (p.Val23711=)
c.52218A>G (p.Val17406=)
c.52017A>G (p.Val17339=)
c.51642A>G (p.Val17214=)
c.78837A>G (p.Val26279=)
c.73914A>G (p.Val24638=)
n.447-4005T>C
n.2044-15277T>C
c.77934A>G (p.Val25978=)
c.51828A>G (p.Val17276=)
c.51687A>G (p.Val17229=)
c.77730A>G (p.Val25910=)
c.73128A>G (p.Val24376=)
c.73125A>G (p.Val24375=)
c.70167A>G (p.Val23389=)
c.51783A>G (p.Val17261=)
c.73278A>G (p.Val24426=)
c.73275A>G (p.Val24425=)
c.72708A>G (p.Val24236=)
c.70050A>G (p.Val23350=)
c.69969A>G (p.Val23323=)
c.51732A>G (p.Val17244=)
c.41586A>G (p.Val13862=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178567295T>GCA430253064TTN,TTN-AS1c.71133A>C (p.Val23711=)
c.52218A>C (p.Val17406=)
c.52017A>C (p.Val17339=)
c.51642A>C (p.Val17214=)
c.78837A>C (p.Val26279=)
c.73914A>C (p.Val24638=)
n.447-4005T>G
n.2044-15277T>G
c.77934A>C (p.Val25978=)
c.51828A>C (p.Val17276=)
c.51687A>C (p.Val17229=)
c.77730A>C (p.Val25910=)
c.73128A>C (p.Val24376=)
c.73125A>C (p.Val24375=)
c.70167A>C (p.Val23389=)
c.51783A>C (p.Val17261=)
c.73278A>C (p.Val24426=)
c.73275A>C (p.Val24425=)
c.72708A>C (p.Val24236=)
c.70050A>C (p.Val23350=)
c.69969A>C (p.Val23323=)
c.51732A>C (p.Val17244=)
c.41586A>C (p.Val13862=)
2g.178567295T=CA1310529865TTN,TTN-AS1c.71133A= (p.Val23711=)
c.52218A= (p.Val17406=)
c.52017A= (p.Val17339=)
c.51642A= (p.Val17214=)
c.78837A= (p.Val26279=)
c.73914A= (p.Val24638=)
n.447-4005T=
n.2044-15277T=
c.77934A= (p.Val25978=)
c.51828A= (p.Val17276=)
c.51687A= (p.Val17229=)
c.77730A= (p.Val25910=)
c.73128A= (p.Val24376=)
c.73125A= (p.Val24375=)
c.70167A= (p.Val23389=)
c.51783A= (p.Val17261=)
c.73278A= (p.Val24426=)
c.73275A= (p.Val24425=)
c.72708A= (p.Val24236=)
c.70050A= (p.Val23350=)
c.69969A= (p.Val23323=)
c.51732A= (p.Val17244=)
c.41586A= (p.Val13862=)
2g.178567296A>CCA349600925TTN,TTN-AS1c.71132T>G (p.Val23711Gly)
c.52217T>G (p.Val17406Gly)
c.52016T>G (p.Val17339Gly)
c.51641T>G (p.Val17214Gly)
c.78836T>G (p.Val26279Gly)
c.73913T>G (p.Val24638Gly)
n.447-4004A>C
n.2044-15276A>C
c.77933T>G (p.Val25978Gly)
c.51827T>G (p.Val17276Gly)
c.51686T>G (p.Val17229Gly)
c.77729T>G (p.Val25910Gly)
c.73127T>G (p.Val24376Gly)
c.73124T>G (p.Val24375Gly)
c.70166T>G (p.Val23389Gly)
c.51782T>G (p.Val17261Gly)
c.73277T>G (p.Val24426Gly)
c.73274T>G (p.Val24425Gly)
c.72707T>G (p.Val24236Gly)
c.70049T>G (p.Val23350Gly)
c.69968T>G (p.Val23323Gly)
c.51731T>G (p.Val17244Gly)
c.41585T>G (p.Val13862Gly)
2g.178567296A>GCA349600926TTN,TTN-AS1c.71132T>C (p.Val23711Ala)
c.52217T>C (p.Val17406Ala)
c.52016T>C (p.Val17339Ala)
c.51641T>C (p.Val17214Ala)
c.78836T>C (p.Val26279Ala)
c.73913T>C (p.Val24638Ala)
n.447-4004A>G
n.2044-15276A>G
c.77933T>C (p.Val25978Ala)
c.51827T>C (p.Val17276Ala)
c.51686T>C (p.Val17229Ala)
c.77729T>C (p.Val25910Ala)
c.73127T>C (p.Val24376Ala)
c.73124T>C (p.Val24375Ala)
c.70166T>C (p.Val23389Ala)
c.51782T>C (p.Val17261Ala)
c.73277T>C (p.Val24426Ala)
c.73274T>C (p.Val24425Ala)
c.72707T>C (p.Val24236Ala)
c.70049T>C (p.Val23350Ala)
c.69968T>C (p.Val23323Ala)
c.51731T>C (p.Val17244Ala)
c.41585T>C (p.Val13862Ala)
2g.178567296A>TCA349600928TTN,TTN-AS1c.71132T>A (p.Val23711Glu)
c.52217T>A (p.Val17406Glu)
c.52016T>A (p.Val17339Glu)
c.51641T>A (p.Val17214Glu)
c.78836T>A (p.Val26279Glu)
c.73913T>A (p.Val24638Glu)
n.447-4004A>T
n.2044-15276A>T
c.77933T>A (p.Val25978Glu)
c.51827T>A (p.Val17276Glu)
c.51686T>A (p.Val17229Glu)
c.77729T>A (p.Val25910Glu)
c.73127T>A (p.Val24376Glu)
c.73124T>A (p.Val24375Glu)
c.70166T>A (p.Val23389Glu)
c.51782T>A (p.Val17261Glu)
c.73277T>A (p.Val24426Glu)
c.73274T>A (p.Val24425Glu)
c.72707T>A (p.Val24236Glu)
c.70049T>A (p.Val23350Glu)
c.69968T>A (p.Val23323Glu)
c.51731T>A (p.Val17244Glu)
c.41585T>A (p.Val13862Glu)
2g.178567297C>ACA60991100TTN,TTN-AS1c.71131G>T (p.Val23711Leu)
c.52216G>T (p.Val17406Leu)
c.52015G>T (p.Val17339Leu)
c.51640G>T (p.Val17214Leu)
c.78835G>T (p.Val26279Leu)
c.73912G>T (p.Val24638Leu)
n.447-4003C>A
n.2044-15275C>A
c.77932G>T (p.Val25978Leu)
c.51826G>T (p.Val17276Leu)
c.51685G>T (p.Val17229Leu)
c.77728G>T (p.Val25910Leu)
c.73126G>T (p.Val24376Leu)
c.73123G>T (p.Val24375Leu)
c.70165G>T (p.Val23389Leu)
c.51781G>T (p.Val17261Leu)
c.73276G>T (p.Val24426Leu)
c.73273G>T (p.Val24425Leu)
c.72706G>T (p.Val24236Leu)
c.70048G>T (p.Val23350Leu)
c.69967G>T (p.Val23323Leu)
c.51730G>T (p.Val17244Leu)
c.41584G>T (p.Val13862Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178567297C=CA1310529866TTN,TTN-AS1c.71131G= (p.Val23711=)
c.52216G= (p.Val17406=)
c.52015G= (p.Val17339=)
c.51640G= (p.Val17214=)
c.78835G= (p.Val26279=)
c.73912G= (p.Val24638=)
n.447-4003C=
n.2044-15275C=
c.77932G= (p.Val25978=)
c.51826G= (p.Val17276=)
c.51685G= (p.Val17229=)
c.77728G= (p.Val25910=)
c.73126G= (p.Val24376=)
c.73123G= (p.Val24375=)
c.70165G= (p.Val23389=)
c.51781G= (p.Val17261=)
c.73276G= (p.Val24426=)
c.73273G= (p.Val24425=)
c.72706G= (p.Val24236=)
c.70048G= (p.Val23350=)
c.69967G= (p.Val23323=)
c.51730G= (p.Val17244=)
c.41584G= (p.Val13862=)
2g.178567297C>GCA349600931TTN,TTN-AS1c.71131G>C (p.Val23711Leu)
c.52216G>C (p.Val17406Leu)
c.52015G>C (p.Val17339Leu)
c.51640G>C (p.Val17214Leu)
c.78835G>C (p.Val26279Leu)
c.73912G>C (p.Val24638Leu)
n.447-4003C>G
n.2044-15275C>G
c.77932G>C (p.Val25978Leu)
c.51826G>C (p.Val17276Leu)
c.51685G>C (p.Val17229Leu)
c.77728G>C (p.Val25910Leu)
c.73126G>C (p.Val24376Leu)
c.73123G>C (p.Val24375Leu)
c.70165G>C (p.Val23389Leu)
c.51781G>C (p.Val17261Leu)
c.73276G>C (p.Val24426Leu)
c.73273G>C (p.Val24425Leu)
c.72706G>C (p.Val24236Leu)
c.70048G>C (p.Val23350Leu)
c.69967G>C (p.Val23323Leu)
c.51730G>C (p.Val17244Leu)
c.41584G>C (p.Val13862Leu)
2g.178567297C>TCA349600934TTN,TTN-AS1c.71131G>A (p.Val23711Ile)
c.52216G>A (p.Val17406Ile)
c.52015G>A (p.Val17339Ile)
c.51640G>A (p.Val17214Ile)
c.78835G>A (p.Val26279Ile)
c.73912G>A (p.Val24638Ile)
n.447-4003C>T
n.2044-15275C>T
c.77932G>A (p.Val25978Ile)
c.51826G>A (p.Val17276Ile)
c.51685G>A (p.Val17229Ile)
c.77728G>A (p.Val25910Ile)
c.73126G>A (p.Val24376Ile)
c.73123G>A (p.Val24375Ile)
c.70165G>A (p.Val23389Ile)
c.51781G>A (p.Val17261Ile)
c.73276G>A (p.Val24426Ile)
c.73273G>A (p.Val24425Ile)
c.72706G>A (p.Val24236Ile)
c.70048G>A (p.Val23350Ile)
c.69967G>A (p.Val23323Ile)
c.51730G>A (p.Val17244Ile)
c.41584G>A (p.Val13862Ile)
 gnomAD v4
2g.178567298T>ACA430253067TTN,TTN-AS1c.71130A>T (p.Pro23710=)
c.52215A>T (p.Pro17405=)
c.52014A>T (p.Pro17338=)
c.51639A>T (p.Pro17213=)
c.78834A>T (p.Pro26278=)
c.73911A>T (p.Pro24637=)
n.447-4002T>A
n.2044-15274T>A
c.77931A>T (p.Pro25977=)
c.51825A>T (p.Pro17275=)
c.51684A>T (p.Pro17228=)
c.77727A>T (p.Pro25909=)
c.73125A>T (p.Pro24375=)
c.73122A>T (p.Pro24374=)
c.70164A>T (p.Pro23388=)
c.51780A>T (p.Pro17260=)
c.73275A>T (p.Pro24425=)
c.73272A>T (p.Pro24424=)
c.72705A>T (p.Pro24235=)
c.70047A>T (p.Pro23349=)
c.69966A>T (p.Pro23322=)
c.51729A>T (p.Pro17243=)
c.41583A>T (p.Pro13861=)
2g.178567298T>CCA430253068TTN,TTN-AS1c.71130A>G (p.Pro23710=)
c.52215A>G (p.Pro17405=)
c.52014A>G (p.Pro17338=)
c.51639A>G (p.Pro17213=)
c.78834A>G (p.Pro26278=)
c.73911A>G (p.Pro24637=)
n.447-4002T>C
n.2044-15274T>C
c.77931A>G (p.Pro25977=)
c.51825A>G (p.Pro17275=)
c.51684A>G (p.Pro17228=)
c.77727A>G (p.Pro25909=)
c.73125A>G (p.Pro24375=)
c.73122A>G (p.Pro24374=)
c.70164A>G (p.Pro23388=)
c.51780A>G (p.Pro17260=)
c.73275A>G (p.Pro24425=)
c.73272A>G (p.Pro24424=)
c.72705A>G (p.Pro24235=)
c.70047A>G (p.Pro23349=)
c.69966A>G (p.Pro23322=)
c.51729A>G (p.Pro17243=)
c.41583A>G (p.Pro13861=)
2g.178567298T>GCA430253069TTN,TTN-AS1c.71130A>C (p.Pro23710=)
c.52215A>C (p.Pro17405=)
c.52014A>C (p.Pro17338=)
c.51639A>C (p.Pro17213=)
c.78834A>C (p.Pro26278=)
c.73911A>C (p.Pro24637=)
n.447-4002T>G
n.2044-15274T>G
c.77931A>C (p.Pro25977=)
c.51825A>C (p.Pro17275=)
c.51684A>C (p.Pro17228=)
c.77727A>C (p.Pro25909=)
c.73125A>C (p.Pro24375=)
c.73122A>C (p.Pro24374=)
c.70164A>C (p.Pro23388=)
c.51780A>C (p.Pro17260=)
c.73275A>C (p.Pro24425=)
c.73272A>C (p.Pro24424=)
c.72705A>C (p.Pro24235=)
c.70047A>C (p.Pro23349=)
c.69966A>C (p.Pro23322=)
c.51729A>C (p.Pro17243=)
c.41583A>C (p.Pro13861=)
 ClinVar dbSNP gnomAD v4
2g.178567299G>ACA349600937TTN,TTN-AS1c.71129C>T (p.Pro23710Leu)
c.52214C>T (p.Pro17405Leu)
c.52013C>T (p.Pro17338Leu)
c.51638C>T (p.Pro17213Leu)
c.78833C>T (p.Pro26278Leu)
c.73910C>T (p.Pro24637Leu)
n.447-4001G>A
n.2044-15273G>A
c.77930C>T (p.Pro25977Leu)
c.51824C>T (p.Pro17275Leu)
c.51683C>T (p.Pro17228Leu)
c.77726C>T (p.Pro25909Leu)
c.73124C>T (p.Pro24375Leu)
c.73121C>T (p.Pro24374Leu)
c.70163C>T (p.Pro23388Leu)
c.51779C>T (p.Pro17260Leu)
c.73274C>T (p.Pro24425Leu)
c.73271C>T (p.Pro24424Leu)
c.72704C>T (p.Pro24235Leu)
c.70046C>T (p.Pro23349Leu)
c.69965C>T (p.Pro23322Leu)
c.51728C>T (p.Pro17243Leu)
c.41582C>T (p.Pro13861Leu)
 ClinVar gnomAD v4
2g.178567299G>CCA349600939TTN,TTN-AS1c.71129C>G (p.Pro23710Arg)
c.52214C>G (p.Pro17405Arg)
c.52013C>G (p.Pro17338Arg)
c.51638C>G (p.Pro17213Arg)
c.78833C>G (p.Pro26278Arg)
c.73910C>G (p.Pro24637Arg)
n.447-4001G>C
n.2044-15273G>C
c.77930C>G (p.Pro25977Arg)
c.51824C>G (p.Pro17275Arg)
c.51683C>G (p.Pro17228Arg)
c.77726C>G (p.Pro25909Arg)
c.73124C>G (p.Pro24375Arg)
c.73121C>G (p.Pro24374Arg)
c.70163C>G (p.Pro23388Arg)
c.51779C>G (p.Pro17260Arg)
c.73274C>G (p.Pro24425Arg)
c.73271C>G (p.Pro24424Arg)
c.72704C>G (p.Pro24235Arg)
c.70046C>G (p.Pro23349Arg)
c.69965C>G (p.Pro23322Arg)
c.51728C>G (p.Pro17243Arg)
c.41582C>G (p.Pro13861Arg)
2g.178567299G>TCA349600941TTN,TTN-AS1c.71129C>A (p.Pro23710Gln)
c.52214C>A (p.Pro17405Gln)
c.52013C>A (p.Pro17338Gln)
c.51638C>A (p.Pro17213Gln)
c.78833C>A (p.Pro26278Gln)
c.73910C>A (p.Pro24637Gln)
n.447-4001G>T
n.2044-15273G>T
c.77930C>A (p.Pro25977Gln)
c.51824C>A (p.Pro17275Gln)
c.51683C>A (p.Pro17228Gln)
c.77726C>A (p.Pro25909Gln)
c.73124C>A (p.Pro24375Gln)
c.73121C>A (p.Pro24374Gln)
c.70163C>A (p.Pro23388Gln)
c.51779C>A (p.Pro17260Gln)
c.73274C>A (p.Pro24425Gln)
c.73271C>A (p.Pro24424Gln)
c.72704C>A (p.Pro24235Gln)
c.70046C>A (p.Pro23349Gln)
c.69965C>A (p.Pro23322Gln)
c.51728C>A (p.Pro17243Gln)
c.41582C>A (p.Pro13861Gln)
2g.178567300G>ACA349600944TTN,TTN-AS1c.71128C>T (p.Pro23710Ser)
c.52213C>T (p.Pro17405Ser)
c.52012C>T (p.Pro17338Ser)
c.51637C>T (p.Pro17213Ser)
c.78832C>T (p.Pro26278Ser)
c.73909C>T (p.Pro24637Ser)
n.447-4000G>A
n.2044-15272G>A
c.77929C>T (p.Pro25977Ser)
c.51823C>T (p.Pro17275Ser)
c.51682C>T (p.Pro17228Ser)
c.77725C>T (p.Pro25909Ser)
c.73123C>T (p.Pro24375Ser)
c.73120C>T (p.Pro24374Ser)
c.70162C>T (p.Pro23388Ser)
c.51778C>T (p.Pro17260Ser)
c.73273C>T (p.Pro24425Ser)
c.73270C>T (p.Pro24424Ser)
c.72703C>T (p.Pro24235Ser)
c.70045C>T (p.Pro23349Ser)
c.69964C>T (p.Pro23322Ser)
c.51727C>T (p.Pro17243Ser)
c.41581C>T (p.Pro13861Ser)
2g.178567300G>CCA349600946TTN,TTN-AS1c.71128C>G (p.Pro23710Ala)
c.52213C>G (p.Pro17405Ala)
c.52012C>G (p.Pro17338Ala)
c.51637C>G (p.Pro17213Ala)
c.78832C>G (p.Pro26278Ala)
c.73909C>G (p.Pro24637Ala)
n.447-4000G>C
n.2044-15272G>C
c.77929C>G (p.Pro25977Ala)
c.51823C>G (p.Pro17275Ala)
c.51682C>G (p.Pro17228Ala)
c.77725C>G (p.Pro25909Ala)
c.73123C>G (p.Pro24375Ala)
c.73120C>G (p.Pro24374Ala)
c.70162C>G (p.Pro23388Ala)
c.51778C>G (p.Pro17260Ala)
c.73273C>G (p.Pro24425Ala)
c.73270C>G (p.Pro24424Ala)
c.72703C>G (p.Pro24235Ala)
c.70045C>G (p.Pro23349Ala)
c.69964C>G (p.Pro23322Ala)
c.51727C>G (p.Pro17243Ala)
c.41581C>G (p.Pro13861Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178567300G=CA1310529867TTN,TTN-AS1c.71128C= (p.Pro23710=)
c.52213C= (p.Pro17405=)
c.52012C= (p.Pro17338=)
c.51637C= (p.Pro17213=)
c.78832C= (p.Pro26278=)
c.73909C= (p.Pro24637=)
n.447-4000G=
n.2044-15272G=
c.77929C= (p.Pro25977=)
c.51823C= (p.Pro17275=)
c.51682C= (p.Pro17228=)
c.77725C= (p.Pro25909=)
c.73123C= (p.Pro24375=)
c.73120C= (p.Pro24374=)
c.70162C= (p.Pro23388=)
c.51778C= (p.Pro17260=)
c.73273C= (p.Pro24425=)
c.73270C= (p.Pro24424=)
c.72703C= (p.Pro24235=)
c.70045C= (p.Pro23349=)
c.69964C= (p.Pro23322=)
c.51727C= (p.Pro17243=)
c.41581C= (p.Pro13861=)
2g.178567300G>TCA349600942TTN,TTN-AS1c.71128C>A (p.Pro23710Thr)
c.52213C>A (p.Pro17405Thr)
c.52012C>A (p.Pro17338Thr)
c.51637C>A (p.Pro17213Thr)
c.78832C>A (p.Pro26278Thr)
c.73909C>A (p.Pro24637Thr)
n.447-4000G>T
n.2044-15272G>T
c.77929C>A (p.Pro25977Thr)
c.51823C>A (p.Pro17275Thr)
c.51682C>A (p.Pro17228Thr)
c.77725C>A (p.Pro25909Thr)
c.73123C>A (p.Pro24375Thr)
c.73120C>A (p.Pro24374Thr)
c.70162C>A (p.Pro23388Thr)
c.51778C>A (p.Pro17260Thr)
c.73273C>A (p.Pro24425Thr)
c.73270C>A (p.Pro24424Thr)
c.72703C>A (p.Pro24235Thr)
c.70045C>A (p.Pro23349Thr)
c.69964C>A (p.Pro23322Thr)
c.51727C>A (p.Pro17243Thr)
c.41581C>A (p.Pro13861Thr)
2g.178567301G>ACA430252595TTN,TTN-AS1c.71127C>T (p.Phe23709=)
c.52212C>T (p.Phe17404=)
c.52011C>T (p.Phe17337=)
c.51636C>T (p.Phe17212=)
c.78831C>T (p.Phe26277=)
c.73908C>T (p.Phe24636=)
n.447-3999G>A
n.2044-15271G>A
c.77928C>T (p.Phe25976=)
c.51822C>T (p.Phe17274=)
c.51681C>T (p.Phe17227=)
c.77724C>T (p.Phe25908=)
c.73122C>T (p.Phe24374=)
c.73119C>T (p.Phe24373=)
c.70161C>T (p.Phe23387=)
c.51777C>T (p.Phe17259=)
c.73272C>T (p.Phe24424=)
c.73269C>T (p.Phe24423=)
c.72702C>T (p.Phe24234=)
c.70044C>T (p.Phe23348=)
c.69963C>T (p.Phe23321=)
c.51726C>T (p.Phe17242=)
c.41580C>T (p.Phe13860=)
 dbSNP gnomAD v3 gnomAD v4
2g.178567301G>CCA349600947TTN,TTN-AS1c.71127C>G (p.Phe23709Leu)
c.52212C>G (p.Phe17404Leu)
c.52011C>G (p.Phe17337Leu)
c.51636C>G (p.Phe17212Leu)
c.78831C>G (p.Phe26277Leu)
c.73908C>G (p.Phe24636Leu)
n.447-3999G>C
n.2044-15271G>C
c.77928C>G (p.Phe25976Leu)
c.51822C>G (p.Phe17274Leu)
c.51681C>G (p.Phe17227Leu)
c.77724C>G (p.Phe25908Leu)
c.73122C>G (p.Phe24374Leu)
c.73119C>G (p.Phe24373Leu)
c.70161C>G (p.Phe23387Leu)
c.51777C>G (p.Phe17259Leu)
c.73272C>G (p.Phe24424Leu)
c.73269C>G (p.Phe24423Leu)
c.72702C>G (p.Phe24234Leu)
c.70044C>G (p.Phe23348Leu)
c.69963C>G (p.Phe23321Leu)
c.51726C>G (p.Phe17242Leu)
c.41580C>G (p.Phe13860Leu)
2g.178567301G=CA1310529868TTN,TTN-AS1c.71127C= (p.Phe23709=)
c.52212C= (p.Phe17404=)
c.52011C= (p.Phe17337=)
c.51636C= (p.Phe17212=)
c.78831C= (p.Phe26277=)
c.73908C= (p.Phe24636=)
n.447-3999G=
n.2044-15271G=
c.77928C= (p.Phe25976=)
c.51822C= (p.Phe17274=)
c.51681C= (p.Phe17227=)
c.77724C= (p.Phe25908=)
c.73122C= (p.Phe24374=)
c.73119C= (p.Phe24373=)
c.70161C= (p.Phe23387=)
c.51777C= (p.Phe17259=)
c.73272C= (p.Phe24424=)
c.73269C= (p.Phe24423=)
c.72702C= (p.Phe24234=)
c.70044C= (p.Phe23348=)
c.69963C= (p.Phe23321=)
c.51726C= (p.Phe17242=)
c.41580C= (p.Phe13860=)
2g.178567301G>TCA349600948TTN,TTN-AS1c.71127C>A (p.Phe23709Leu)
c.52212C>A (p.Phe17404Leu)
c.52011C>A (p.Phe17337Leu)
c.51636C>A (p.Phe17212Leu)
c.78831C>A (p.Phe26277Leu)
c.73908C>A (p.Phe24636Leu)
n.447-3999G>T
n.2044-15271G>T
c.77928C>A (p.Phe25976Leu)
c.51822C>A (p.Phe17274Leu)
c.51681C>A (p.Phe17227Leu)
c.77724C>A (p.Phe25908Leu)
c.73122C>A (p.Phe24374Leu)
c.73119C>A (p.Phe24373Leu)
c.70161C>A (p.Phe23387Leu)
c.51777C>A (p.Phe17259Leu)
c.73272C>A (p.Phe24424Leu)
c.73269C>A (p.Phe24423Leu)
c.72702C>A (p.Phe24234Leu)
c.70044C>A (p.Phe23348Leu)
c.69963C>A (p.Phe23321Leu)
c.51726C>A (p.Phe17242Leu)
c.41580C>A (p.Phe13860Leu)
 gnomAD v4
2g.178567302A>CCA349600950TTN,TTN-AS1c.71126T>G (p.Phe23709Cys)
c.52211T>G (p.Phe17404Cys)
c.52010T>G (p.Phe17337Cys)
c.51635T>G (p.Phe17212Cys)
c.78830T>G (p.Phe26277Cys)
c.73907T>G (p.Phe24636Cys)
n.447-3998A>C
n.2044-15270A>C
c.77927T>G (p.Phe25976Cys)
c.51821T>G (p.Phe17274Cys)
c.51680T>G (p.Phe17227Cys)
c.77723T>G (p.Phe25908Cys)
c.73121T>G (p.Phe24374Cys)
c.73118T>G (p.Phe24373Cys)
c.70160T>G (p.Phe23387Cys)
c.51776T>G (p.Phe17259Cys)
c.73271T>G (p.Phe24424Cys)
c.73268T>G (p.Phe24423Cys)
c.72701T>G (p.Phe24234Cys)
c.70043T>G (p.Phe23348Cys)
c.69962T>G (p.Phe23321Cys)
c.51725T>G (p.Phe17242Cys)
c.41579T>G (p.Phe13860Cys)
2g.178567302A>GCA349600951TTN,TTN-AS1c.71126T>C (p.Phe23709Ser)
c.52211T>C (p.Phe17404Ser)
c.52010T>C (p.Phe17337Ser)
c.51635T>C (p.Phe17212Ser)
c.78830T>C (p.Phe26277Ser)
c.73907T>C (p.Phe24636Ser)
n.447-3998A>G
n.2044-15270A>G
c.77927T>C (p.Phe25976Ser)
c.51821T>C (p.Phe17274Ser)
c.51680T>C (p.Phe17227Ser)
c.77723T>C (p.Phe25908Ser)
c.73121T>C (p.Phe24374Ser)
c.73118T>C (p.Phe24373Ser)
c.70160T>C (p.Phe23387Ser)
c.51776T>C (p.Phe17259Ser)
c.73271T>C (p.Phe24424Ser)
c.73268T>C (p.Phe24423Ser)
c.72701T>C (p.Phe24234Ser)
c.70043T>C (p.Phe23348Ser)
c.69962T>C (p.Phe23321Ser)
c.51725T>C (p.Phe17242Ser)
c.41579T>C (p.Phe13860Ser)
2g.178567302A>TCA349600952TTN,TTN-AS1c.71126T>A (p.Phe23709Tyr)
c.52211T>A (p.Phe17404Tyr)
c.52010T>A (p.Phe17337Tyr)
c.51635T>A (p.Phe17212Tyr)
c.78830T>A (p.Phe26277Tyr)
c.73907T>A (p.Phe24636Tyr)
n.447-3998A>T
n.2044-15270A>T
c.77927T>A (p.Phe25976Tyr)
c.51821T>A (p.Phe17274Tyr)
c.51680T>A (p.Phe17227Tyr)
c.77723T>A (p.Phe25908Tyr)
c.73121T>A (p.Phe24374Tyr)
c.73118T>A (p.Phe24373Tyr)
c.70160T>A (p.Phe23387Tyr)
c.51776T>A (p.Phe17259Tyr)
c.73271T>A (p.Phe24424Tyr)
c.73268T>A (p.Phe24423Tyr)
c.72701T>A (p.Phe24234Tyr)
c.70043T>A (p.Phe23348Tyr)
c.69962T>A (p.Phe23321Tyr)
c.51725T>A (p.Phe17242Tyr)
c.41579T>A (p.Phe13860Tyr)
 gnomAD v4
2g.178567303A=CA1310529869TTN,TTN-AS1c.71125T= (p.Phe23709=)
c.52210T= (p.Phe17404=)
c.52009T= (p.Phe17337=)
c.51634T= (p.Phe17212=)
c.78829T= (p.Phe26277=)
c.73906T= (p.Phe24636=)
n.447-3997A=
n.2044-15269A=
c.77926T= (p.Phe25976=)
c.51820T= (p.Phe17274=)
c.51679T= (p.Phe17227=)
c.77722T= (p.Phe25908=)
c.73120T= (p.Phe24374=)
c.73117T= (p.Phe24373=)
c.70159T= (p.Phe23387=)
c.51775T= (p.Phe17259=)
c.73270T= (p.Phe24424=)
c.73267T= (p.Phe24423=)
c.72700T= (p.Phe24234=)
c.70042T= (p.Phe23348=)
c.69961T= (p.Phe23321=)
c.51724T= (p.Phe17242=)
c.41578T= (p.Phe13860=)
2g.178567303A>CCA349600956TTN,TTN-AS1c.71125T>G (p.Phe23709Val)
c.52210T>G (p.Phe17404Val)
c.52009T>G (p.Phe17337Val)
c.51634T>G (p.Phe17212Val)
c.78829T>G (p.Phe26277Val)
c.73906T>G (p.Phe24636Val)
n.447-3997A>C
n.2044-15269A>C
c.77926T>G (p.Phe25976Val)
c.51820T>G (p.Phe17274Val)
c.51679T>G (p.Phe17227Val)
c.77722T>G (p.Phe25908Val)
c.73120T>G (p.Phe24374Val)
c.73117T>G (p.Phe24373Val)
c.70159T>G (p.Phe23387Val)
c.51775T>G (p.Phe17259Val)
c.73270T>G (p.Phe24424Val)
c.73267T>G (p.Phe24423Val)
c.72700T>G (p.Phe24234Val)
c.70042T>G (p.Phe23348Val)
c.69961T>G (p.Phe23321Val)
c.51724T>G (p.Phe17242Val)
c.41578T>G (p.Phe13860Val)
2g.178567303A>GCA349600957TTN,TTN-AS1c.71125T>C (p.Phe23709Leu)
c.52210T>C (p.Phe17404Leu)
c.52009T>C (p.Phe17337Leu)
c.51634T>C (p.Phe17212Leu)
c.78829T>C (p.Phe26277Leu)
c.73906T>C (p.Phe24636Leu)
n.447-3997A>G
n.2044-15269A>G
c.77926T>C (p.Phe25976Leu)
c.51820T>C (p.Phe17274Leu)
c.51679T>C (p.Phe17227Leu)
c.77722T>C (p.Phe25908Leu)
c.73120T>C (p.Phe24374Leu)
c.73117T>C (p.Phe24373Leu)
c.70159T>C (p.Phe23387Leu)
c.51775T>C (p.Phe17259Leu)
c.73270T>C (p.Phe24424Leu)
c.73267T>C (p.Phe24423Leu)
c.72700T>C (p.Phe24234Leu)
c.70042T>C (p.Phe23348Leu)
c.69961T>C (p.Phe23321Leu)
c.51724T>C (p.Phe17242Leu)
c.41578T>C (p.Phe13860Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178567303A>TCA349600958TTN,TTN-AS1c.71125T>A (p.Phe23709Ile)
c.52210T>A (p.Phe17404Ile)
c.52009T>A (p.Phe17337Ile)
c.51634T>A (p.Phe17212Ile)
c.78829T>A (p.Phe26277Ile)
c.73906T>A (p.Phe24636Ile)
n.447-3997A>T
n.2044-15269A>T
c.77926T>A (p.Phe25976Ile)
c.51820T>A (p.Phe17274Ile)
c.51679T>A (p.Phe17227Ile)
c.77722T>A (p.Phe25908Ile)
c.73120T>A (p.Phe24374Ile)
c.73117T>A (p.Phe24373Ile)
c.70159T>A (p.Phe23387Ile)
c.51775T>A (p.Phe17259Ile)
c.73270T>A (p.Phe24424Ile)
c.73267T>A (p.Phe24423Ile)
c.72700T>A (p.Phe24234Ile)
c.70042T>A (p.Phe23348Ile)
c.69961T>A (p.Phe23321Ile)
c.51724T>A (p.Phe17242Ile)
c.41578T>A (p.Phe13860Ile)
2g.178567304T>ACA430252596TTN,TTN-AS1c.71124A>T (p.Ser23708=)
c.52209A>T (p.Ser17403=)
c.52008A>T (p.Ser17336=)
c.51633A>T (p.Ser17211=)
c.78828A>T (p.Ser26276=)
c.73905A>T (p.Ser24635=)
n.447-3996T>A
n.2044-15268T>A
c.77925A>T (p.Ser25975=)
c.51819A>T (p.Ser17273=)
c.51678A>T (p.Ser17226=)
c.77721A>T (p.Ser25907=)
c.73119A>T (p.Ser24373=)
c.73116A>T (p.Ser24372=)
c.70158A>T (p.Ser23386=)
c.51774A>T (p.Ser17258=)
c.73269A>T (p.Ser24423=)
c.73266A>T (p.Ser24422=)
c.72699A>T (p.Ser24233=)
c.70041A>T (p.Ser23347=)
c.69960A>T (p.Ser23320=)
c.51723A>T (p.Ser17241=)
c.41577A>T (p.Ser13859=)
2g.178567304T>CCA430252597TTN,TTN-AS1c.71124A>G (p.Ser23708=)
c.52209A>G (p.Ser17403=)
c.52008A>G (p.Ser17336=)
c.51633A>G (p.Ser17211=)
c.78828A>G (p.Ser26276=)
c.73905A>G (p.Ser24635=)
n.447-3996T>C
n.2044-15268T>C
c.77925A>G (p.Ser25975=)
c.51819A>G (p.Ser17273=)
c.51678A>G (p.Ser17226=)
c.77721A>G (p.Ser25907=)
c.73119A>G (p.Ser24373=)
c.73116A>G (p.Ser24372=)
c.70158A>G (p.Ser23386=)
c.51774A>G (p.Ser17258=)
c.73269A>G (p.Ser24423=)
c.73266A>G (p.Ser24422=)
c.72699A>G (p.Ser24233=)
c.70041A>G (p.Ser23347=)
c.69960A>G (p.Ser23320=)
c.51723A>G (p.Ser17241=)
c.41577A>G (p.Ser13859=)
 ClinVar gnomAD v4
2g.178567304T>GCA430252598TTN,TTN-AS1c.71124A>C (p.Ser23708=)
c.52209A>C (p.Ser17403=)
c.52008A>C (p.Ser17336=)
c.51633A>C (p.Ser17211=)
c.78828A>C (p.Ser26276=)
c.73905A>C (p.Ser24635=)
n.447-3996T>G
n.2044-15268T>G
c.77925A>C (p.Ser25975=)
c.51819A>C (p.Ser17273=)
c.51678A>C (p.Ser17226=)
c.77721A>C (p.Ser25907=)
c.73119A>C (p.Ser24373=)
c.73116A>C (p.Ser24372=)
c.70158A>C (p.Ser23386=)
c.51774A>C (p.Ser17258=)
c.73269A>C (p.Ser24423=)
c.73266A>C (p.Ser24422=)
c.72699A>C (p.Ser24233=)
c.70041A>C (p.Ser23347=)
c.69960A>C (p.Ser23320=)
c.51723A>C (p.Ser17241=)
c.41577A>C (p.Ser13859=)
2g.178567305G>ACA349600961TTN,TTN-AS1c.71123C>T (p.Ser23708Leu)
c.52208C>T (p.Ser17403Leu)
c.52007C>T (p.Ser17336Leu)
c.51632C>T (p.Ser17211Leu)
c.78827C>T (p.Ser26276Leu)
c.73904C>T (p.Ser24635Leu)
n.447-3995G>A
n.2044-15267G>A
c.77924C>T (p.Ser25975Leu)
c.51818C>T (p.Ser17273Leu)
c.51677C>T (p.Ser17226Leu)
c.77720C>T (p.Ser25907Leu)
c.73118C>T (p.Ser24373Leu)
c.73115C>T (p.Ser24372Leu)
c.70157C>T (p.Ser23386Leu)
c.51773C>T (p.Ser17258Leu)
c.73268C>T (p.Ser24423Leu)
c.73265C>T (p.Ser24422Leu)
c.72698C>T (p.Ser24233Leu)
c.70040C>T (p.Ser23347Leu)
c.69959C>T (p.Ser23320Leu)
c.51722C>T (p.Ser17241Leu)
c.41576C>T (p.Ser13859Leu)

Number of alleles fetched