Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.178567305G>CCA349600962TTN,TTN-AS1c.71123C>G (p.Ser23708Ter)
c.52208C>G (p.Ser17403Ter)
c.52007C>G (p.Ser17336Ter)
c.51632C>G (p.Ser17211Ter)
c.78827C>G (p.Ser26276Ter)
c.73904C>G (p.Ser24635Ter)
n.447-3995G>C
n.2044-15267G>C
c.77924C>G (p.Ser25975Ter)
c.51818C>G (p.Ser17273Ter)
c.51677C>G (p.Ser17226Ter)
c.77720C>G (p.Ser25907Ter)
c.73118C>G (p.Ser24373Ter)
c.73115C>G (p.Ser24372Ter)
c.70157C>G (p.Ser23386Ter)
c.51773C>G (p.Ser17258Ter)
c.73268C>G (p.Ser24423Ter)
c.73265C>G (p.Ser24422Ter)
c.72698C>G (p.Ser24233Ter)
c.70040C>G (p.Ser23347Ter)
c.69959C>G (p.Ser23320Ter)
c.51722C>G (p.Ser17241Ter)
c.41576C>G (p.Ser13859Ter)
2g.178567305G>TCA349600963TTN,TTN-AS1c.71123C>A (p.Ser23708Ter)
c.52208C>A (p.Ser17403Ter)
c.52007C>A (p.Ser17336Ter)
c.51632C>A (p.Ser17211Ter)
c.78827C>A (p.Ser26276Ter)
c.73904C>A (p.Ser24635Ter)
n.447-3995G>T
n.2044-15267G>T
c.77924C>A (p.Ser25975Ter)
c.51818C>A (p.Ser17273Ter)
c.51677C>A (p.Ser17226Ter)
c.77720C>A (p.Ser25907Ter)
c.73118C>A (p.Ser24373Ter)
c.73115C>A (p.Ser24372Ter)
c.70157C>A (p.Ser23386Ter)
c.51773C>A (p.Ser17258Ter)
c.73268C>A (p.Ser24423Ter)
c.73265C>A (p.Ser24422Ter)
c.72698C>A (p.Ser24233Ter)
c.70040C>A (p.Ser23347Ter)
c.69959C>A (p.Ser23320Ter)
c.51722C>A (p.Ser17241Ter)
c.41576C>A (p.Ser13859Ter)
2g.178567306A>CCA349600967TTN,TTN-AS1c.71122T>G (p.Ser23708Ala)
c.52207T>G (p.Ser17403Ala)
c.52006T>G (p.Ser17336Ala)
c.51631T>G (p.Ser17211Ala)
c.78826T>G (p.Ser26276Ala)
c.73903T>G (p.Ser24635Ala)
n.447-3994A>C
n.2044-15266A>C
c.77923T>G (p.Ser25975Ala)
c.51817T>G (p.Ser17273Ala)
c.51676T>G (p.Ser17226Ala)
c.77719T>G (p.Ser25907Ala)
c.73117T>G (p.Ser24373Ala)
c.73114T>G (p.Ser24372Ala)
c.70156T>G (p.Ser23386Ala)
c.51772T>G (p.Ser17258Ala)
c.73267T>G (p.Ser24423Ala)
c.73264T>G (p.Ser24422Ala)
c.72697T>G (p.Ser24233Ala)
c.70039T>G (p.Ser23347Ala)
c.69958T>G (p.Ser23320Ala)
c.51721T>G (p.Ser17241Ala)
c.41575T>G (p.Ser13859Ala)
2g.178567306A>GCA349600969TTN,TTN-AS1c.71122T>C (p.Ser23708Pro)
c.52207T>C (p.Ser17403Pro)
c.52006T>C (p.Ser17336Pro)
c.51631T>C (p.Ser17211Pro)
c.78826T>C (p.Ser26276Pro)
c.73903T>C (p.Ser24635Pro)
n.447-3994A>G
n.2044-15266A>G
c.77923T>C (p.Ser25975Pro)
c.51817T>C (p.Ser17273Pro)
c.51676T>C (p.Ser17226Pro)
c.77719T>C (p.Ser25907Pro)
c.73117T>C (p.Ser24373Pro)
c.73114T>C (p.Ser24372Pro)
c.70156T>C (p.Ser23386Pro)
c.51772T>C (p.Ser17258Pro)
c.73267T>C (p.Ser24423Pro)
c.73264T>C (p.Ser24422Pro)
c.72697T>C (p.Ser24233Pro)
c.70039T>C (p.Ser23347Pro)
c.69958T>C (p.Ser23320Pro)
c.51721T>C (p.Ser17241Pro)
c.41575T>C (p.Ser13859Pro)
 gnomAD v4
2g.178567306A>TCA349600966TTN,TTN-AS1c.71122T>A (p.Ser23708Thr)
c.52207T>A (p.Ser17403Thr)
c.52006T>A (p.Ser17336Thr)
c.51631T>A (p.Ser17211Thr)
c.78826T>A (p.Ser26276Thr)
c.73903T>A (p.Ser24635Thr)
n.447-3994A>T
n.2044-15266A>T
c.77923T>A (p.Ser25975Thr)
c.51817T>A (p.Ser17273Thr)
c.51676T>A (p.Ser17226Thr)
c.77719T>A (p.Ser25907Thr)
c.73117T>A (p.Ser24373Thr)
c.73114T>A (p.Ser24372Thr)
c.70156T>A (p.Ser23386Thr)
c.51772T>A (p.Ser17258Thr)
c.73267T>A (p.Ser24423Thr)
c.73264T>A (p.Ser24422Thr)
c.72697T>A (p.Ser24233Thr)
c.70039T>A (p.Ser23347Thr)
c.69958T>A (p.Ser23320Thr)
c.51721T>A (p.Ser17241Thr)
c.41575T>A (p.Ser13859Thr)
2g.178567307C>ACA349600971TTN,TTN-AS1c.71121G>T (p.Lys23707Asn)
c.52206G>T (p.Lys17402Asn)
c.52005G>T (p.Lys17335Asn)
c.51630G>T (p.Lys17210Asn)
c.78825G>T (p.Lys26275Asn)
c.73902G>T (p.Lys24634Asn)
n.447-3993C>A
n.2044-15265C>A
c.77922G>T (p.Lys25974Asn)
c.51816G>T (p.Lys17272Asn)
c.51675G>T (p.Lys17225Asn)
c.77718G>T (p.Lys25906Asn)
c.73116G>T (p.Lys24372Asn)
c.73113G>T (p.Lys24371Asn)
c.70155G>T (p.Lys23385Asn)
c.51771G>T (p.Lys17257Asn)
c.73266G>T (p.Lys24422Asn)
c.73263G>T (p.Lys24421Asn)
c.72696G>T (p.Lys24232Asn)
c.70038G>T (p.Lys23346Asn)
c.69957G>T (p.Lys23319Asn)
c.51720G>T (p.Lys17240Asn)
c.41574G>T (p.Lys13858Asn)
2g.178567307C>GCA349600972TTN,TTN-AS1c.71121G>C (p.Lys23707Asn)
c.52206G>C (p.Lys17402Asn)
c.52005G>C (p.Lys17335Asn)
c.51630G>C (p.Lys17210Asn)
c.78825G>C (p.Lys26275Asn)
c.73902G>C (p.Lys24634Asn)
n.447-3993C>G
n.2044-15265C>G
c.77922G>C (p.Lys25974Asn)
c.51816G>C (p.Lys17272Asn)
c.51675G>C (p.Lys17225Asn)
c.77718G>C (p.Lys25906Asn)
c.73116G>C (p.Lys24372Asn)
c.73113G>C (p.Lys24371Asn)
c.70155G>C (p.Lys23385Asn)
c.51771G>C (p.Lys17257Asn)
c.73266G>C (p.Lys24422Asn)
c.73263G>C (p.Lys24421Asn)
c.72696G>C (p.Lys24232Asn)
c.70038G>C (p.Lys23346Asn)
c.69957G>C (p.Lys23319Asn)
c.51720G>C (p.Lys17240Asn)
c.41574G>C (p.Lys13858Asn)
2g.178567307C>TCA430252599TTN,TTN-AS1c.71121G>A (p.Lys23707=)
c.52206G>A (p.Lys17402=)
c.52005G>A (p.Lys17335=)
c.51630G>A (p.Lys17210=)
c.78825G>A (p.Lys26275=)
c.73902G>A (p.Lys24634=)
n.447-3993C>T
n.2044-15265C>T
c.77922G>A (p.Lys25974=)
c.51816G>A (p.Lys17272=)
c.51675G>A (p.Lys17225=)
c.77718G>A (p.Lys25906=)
c.73116G>A (p.Lys24372=)
c.73113G>A (p.Lys24371=)
c.70155G>A (p.Lys23385=)
c.51771G>A (p.Lys17257=)
c.73266G>A (p.Lys24422=)
c.73263G>A (p.Lys24421=)
c.72696G>A (p.Lys24232=)
c.70038G>A (p.Lys23346=)
c.69957G>A (p.Lys23319=)
c.51720G>A (p.Lys17240=)
c.41574G>A (p.Lys13858=)
2g.178567308T>ACA349600975TTN,TTN-AS1c.71120A>T (p.Lys23707Met)
c.52205A>T (p.Lys17402Met)
c.52004A>T (p.Lys17335Met)
c.51629A>T (p.Lys17210Met)
c.78824A>T (p.Lys26275Met)
c.73901A>T (p.Lys24634Met)
n.447-3992T>A
n.2044-15264T>A
c.77921A>T (p.Lys25974Met)
c.51815A>T (p.Lys17272Met)
c.51674A>T (p.Lys17225Met)
c.77717A>T (p.Lys25906Met)
c.73115A>T (p.Lys24372Met)
c.73112A>T (p.Lys24371Met)
c.70154A>T (p.Lys23385Met)
c.51770A>T (p.Lys17257Met)
c.73265A>T (p.Lys24422Met)
c.73262A>T (p.Lys24421Met)
c.72695A>T (p.Lys24232Met)
c.70037A>T (p.Lys23346Met)
c.69956A>T (p.Lys23319Met)
c.51719A>T (p.Lys17240Met)
c.41573A>T (p.Lys13858Met)
2g.178567308T>CCA349600976TTN,TTN-AS1c.71120A>G (p.Lys23707Arg)
c.52205A>G (p.Lys17402Arg)
c.52004A>G (p.Lys17335Arg)
c.51629A>G (p.Lys17210Arg)
c.78824A>G (p.Lys26275Arg)
c.73901A>G (p.Lys24634Arg)
n.447-3992T>C
n.2044-15264T>C
c.77921A>G (p.Lys25974Arg)
c.51815A>G (p.Lys17272Arg)
c.51674A>G (p.Lys17225Arg)
c.77717A>G (p.Lys25906Arg)
c.73115A>G (p.Lys24372Arg)
c.73112A>G (p.Lys24371Arg)
c.70154A>G (p.Lys23385Arg)
c.51770A>G (p.Lys17257Arg)
c.73265A>G (p.Lys24422Arg)
c.73262A>G (p.Lys24421Arg)
c.72695A>G (p.Lys24232Arg)
c.70037A>G (p.Lys23346Arg)
c.69956A>G (p.Lys23319Arg)
c.51719A>G (p.Lys17240Arg)
c.41573A>G (p.Lys13858Arg)
2g.178567308T>GCA349600978TTN,TTN-AS1c.71120A>C (p.Lys23707Thr)
c.52205A>C (p.Lys17402Thr)
c.52004A>C (p.Lys17335Thr)
c.51629A>C (p.Lys17210Thr)
c.78824A>C (p.Lys26275Thr)
c.73901A>C (p.Lys24634Thr)
n.447-3992T>G
n.2044-15264T>G
c.77921A>C (p.Lys25974Thr)
c.51815A>C (p.Lys17272Thr)
c.51674A>C (p.Lys17225Thr)
c.77717A>C (p.Lys25906Thr)
c.73115A>C (p.Lys24372Thr)
c.73112A>C (p.Lys24371Thr)
c.70154A>C (p.Lys23385Thr)
c.51770A>C (p.Lys17257Thr)
c.73265A>C (p.Lys24422Thr)
c.73262A>C (p.Lys24421Thr)
c.72695A>C (p.Lys24232Thr)
c.70037A>C (p.Lys23346Thr)
c.69956A>C (p.Lys23319Thr)
c.51719A>C (p.Lys17240Thr)
c.41573A>C (p.Lys13858Thr)

Number of alleles fetched