Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178551738C>ACA349503321TTN,TTN-AS1c.83458G>T (p.Gly27820Ter)
c.64543G>T (p.Gly21515Ter)
c.64342G>T (p.Gly21448Ter)
c.63967G>T (p.Gly21323Ter)
c.91162G>T (p.Gly30388Ter)
c.86239G>T (p.Gly28747Ter)
n.447-19562C>A
n.2043+9377C>A
c.90259G>T (p.Gly30087Ter)
c.64153G>T (p.Gly21385Ter)
c.64012G>T (p.Gly21338Ter)
c.90055G>T (p.Gly30019Ter)
c.85453G>T (p.Gly28485Ter)
c.85450G>T (p.Gly28484Ter)
c.82492G>T (p.Gly27498Ter)
c.64108G>T (p.Gly21370Ter)
c.85603G>T (p.Gly28535Ter)
c.85600G>T (p.Gly28534Ter)
c.85033G>T (p.Gly28345Ter)
c.82375G>T (p.Gly27459Ter)
c.82294G>T (p.Gly27432Ter)
c.64057G>T (p.Gly21353Ter)
c.53911G>T (p.Gly17971Ter)
2g.178551738C>GCA349503325TTN,TTN-AS1c.83458G>C (p.Gly27820Arg)
c.64543G>C (p.Gly21515Arg)
c.64342G>C (p.Gly21448Arg)
c.63967G>C (p.Gly21323Arg)
c.91162G>C (p.Gly30388Arg)
c.86239G>C (p.Gly28747Arg)
n.447-19562C>G
n.2043+9377C>G
c.90259G>C (p.Gly30087Arg)
c.64153G>C (p.Gly21385Arg)
c.64012G>C (p.Gly21338Arg)
c.90055G>C (p.Gly30019Arg)
c.85453G>C (p.Gly28485Arg)
c.85450G>C (p.Gly28484Arg)
c.82492G>C (p.Gly27498Arg)
c.64108G>C (p.Gly21370Arg)
c.85603G>C (p.Gly28535Arg)
c.85600G>C (p.Gly28534Arg)
c.85033G>C (p.Gly28345Arg)
c.82375G>C (p.Gly27459Arg)
c.82294G>C (p.Gly27432Arg)
c.64057G>C (p.Gly21353Arg)
c.53911G>C (p.Gly17971Arg)
2g.178551738C>TCA349503336TTN,TTN-AS1c.83458G>A (p.Gly27820Arg)
c.64543G>A (p.Gly21515Arg)
c.64342G>A (p.Gly21448Arg)
c.63967G>A (p.Gly21323Arg)
c.91162G>A (p.Gly30388Arg)
c.86239G>A (p.Gly28747Arg)
n.447-19562C>T
n.2043+9377C>T
c.90259G>A (p.Gly30087Arg)
c.64153G>A (p.Gly21385Arg)
c.64012G>A (p.Gly21338Arg)
c.90055G>A (p.Gly30019Arg)
c.85453G>A (p.Gly28485Arg)
c.85450G>A (p.Gly28484Arg)
c.82492G>A (p.Gly27498Arg)
c.64108G>A (p.Gly21370Arg)
c.85603G>A (p.Gly28535Arg)
c.85600G>A (p.Gly28534Arg)
c.85033G>A (p.Gly28345Arg)
c.82375G>A (p.Gly27459Arg)
c.82294G>A (p.Gly27432Arg)
c.64057G>A (p.Gly21353Arg)
c.53911G>A (p.Gly17971Arg)
2g.178551739A>CCA430245146TTN,TTN-AS1c.83457T>G (p.Thr27819=)
c.64542T>G (p.Thr21514=)
c.64341T>G (p.Thr21447=)
c.63966T>G (p.Thr21322=)
c.91161T>G (p.Thr30387=)
c.86238T>G (p.Thr28746=)
n.447-19561A>C
n.2043+9378A>C
c.90258T>G (p.Thr30086=)
c.64152T>G (p.Thr21384=)
c.64011T>G (p.Thr21337=)
c.90054T>G (p.Thr30018=)
c.85452T>G (p.Thr28484=)
c.85449T>G (p.Thr28483=)
c.82491T>G (p.Thr27497=)
c.64107T>G (p.Thr21369=)
c.85602T>G (p.Thr28534=)
c.85599T>G (p.Thr28533=)
c.85032T>G (p.Thr28344=)
c.82374T>G (p.Thr27458=)
c.82293T>G (p.Thr27431=)
c.64056T>G (p.Thr21352=)
c.53910T>G (p.Thr17970=)
 gnomAD v4
2g.178551739A>GCA430245145TTN,TTN-AS1c.83457T>C (p.Thr27819=)
c.64542T>C (p.Thr21514=)
c.64341T>C (p.Thr21447=)
c.63966T>C (p.Thr21322=)
c.91161T>C (p.Thr30387=)
c.86238T>C (p.Thr28746=)
n.447-19561A>G
n.2043+9378A>G
c.90258T>C (p.Thr30086=)
c.64152T>C (p.Thr21384=)
c.64011T>C (p.Thr21337=)
c.90054T>C (p.Thr30018=)
c.85452T>C (p.Thr28484=)
c.85449T>C (p.Thr28483=)
c.82491T>C (p.Thr27497=)
c.64107T>C (p.Thr21369=)
c.85602T>C (p.Thr28534=)
c.85599T>C (p.Thr28533=)
c.85032T>C (p.Thr28344=)
c.82374T>C (p.Thr27458=)
c.82293T>C (p.Thr27431=)
c.64056T>C (p.Thr21352=)
c.53910T>C (p.Thr17970=)
 gnomAD v4
2g.178551739A>TCA430245144TTN,TTN-AS1c.83457T>A (p.Thr27819=)
c.64542T>A (p.Thr21514=)
c.64341T>A (p.Thr21447=)
c.63966T>A (p.Thr21322=)
c.91161T>A (p.Thr30387=)
c.86238T>A (p.Thr28746=)
n.447-19561A>T
n.2043+9378A>T
c.90258T>A (p.Thr30086=)
c.64152T>A (p.Thr21384=)
c.64011T>A (p.Thr21337=)
c.90054T>A (p.Thr30018=)
c.85452T>A (p.Thr28484=)
c.85449T>A (p.Thr28483=)
c.82491T>A (p.Thr27497=)
c.64107T>A (p.Thr21369=)
c.85602T>A (p.Thr28534=)
c.85599T>A (p.Thr28533=)
c.85032T>A (p.Thr28344=)
c.82374T>A (p.Thr27458=)
c.82293T>A (p.Thr27431=)
c.64056T>A (p.Thr21352=)
c.53910T>A (p.Thr17970=)
2g.178551740G>ACA1987681TTN,TTN-AS1c.83456C>T (p.Thr27819Ile)
c.64541C>T (p.Thr21514Ile)
c.64340C>T (p.Thr21447Ile)
c.63965C>T (p.Thr21322Ile)
c.91160C>T (p.Thr30387Ile)
c.86237C>T (p.Thr28746Ile)
n.447-19560G>A
n.2043+9379G>A
c.90257C>T (p.Thr30086Ile)
c.64151C>T (p.Thr21384Ile)
c.64010C>T (p.Thr21337Ile)
c.90053C>T (p.Thr30018Ile)
c.85451C>T (p.Thr28484Ile)
c.85448C>T (p.Thr28483Ile)
c.82490C>T (p.Thr27497Ile)
c.64106C>T (p.Thr21369Ile)
c.85601C>T (p.Thr28534Ile)
c.85598C>T (p.Thr28533Ile)
c.85031C>T (p.Thr28344Ile)
c.82373C>T (p.Thr27458Ile)
c.82292C>T (p.Thr27431Ile)
c.64055C>T (p.Thr21352Ile)
c.53909C>T (p.Thr17970Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178551740G>CCA349503341TTN,TTN-AS1c.83456C>G (p.Thr27819Ser)
c.64541C>G (p.Thr21514Ser)
c.64340C>G (p.Thr21447Ser)
c.63965C>G (p.Thr21322Ser)
c.91160C>G (p.Thr30387Ser)
c.86237C>G (p.Thr28746Ser)
n.447-19560G>C
n.2043+9379G>C
c.90257C>G (p.Thr30086Ser)
c.64151C>G (p.Thr21384Ser)
c.64010C>G (p.Thr21337Ser)
c.90053C>G (p.Thr30018Ser)
c.85451C>G (p.Thr28484Ser)
c.85448C>G (p.Thr28483Ser)
c.82490C>G (p.Thr27497Ser)
c.64106C>G (p.Thr21369Ser)
c.85601C>G (p.Thr28534Ser)
c.85598C>G (p.Thr28533Ser)
c.85031C>G (p.Thr28344Ser)
c.82373C>G (p.Thr27458Ser)
c.82292C>G (p.Thr27431Ser)
c.64055C>G (p.Thr21352Ser)
c.53909C>G (p.Thr17970Ser)
2g.178551740G=CA1310521188TTN,TTN-AS1c.83456C= (p.Thr27819=)
c.64541C= (p.Thr21514=)
c.64340C= (p.Thr21447=)
c.63965C= (p.Thr21322=)
c.91160C= (p.Thr30387=)
c.86237C= (p.Thr28746=)
n.447-19560G=
n.2043+9379G=
c.90257C= (p.Thr30086=)
c.64151C= (p.Thr21384=)
c.64010C= (p.Thr21337=)
c.90053C= (p.Thr30018=)
c.85451C= (p.Thr28484=)
c.85448C= (p.Thr28483=)
c.82490C= (p.Thr27497=)
c.64106C= (p.Thr21369=)
c.85601C= (p.Thr28534=)
c.85598C= (p.Thr28533=)
c.85031C= (p.Thr28344=)
c.82373C= (p.Thr27458=)
c.82292C= (p.Thr27431=)
c.64055C= (p.Thr21352=)
c.53909C= (p.Thr17970=)
2g.178551740G>TCA349503346TTN,TTN-AS1c.83456C>A (p.Thr27819Asn)
c.64541C>A (p.Thr21514Asn)
c.64340C>A (p.Thr21447Asn)
c.63965C>A (p.Thr21322Asn)
c.91160C>A (p.Thr30387Asn)
c.86237C>A (p.Thr28746Asn)
n.447-19560G>T
n.2043+9379G>T
c.90257C>A (p.Thr30086Asn)
c.64151C>A (p.Thr21384Asn)
c.64010C>A (p.Thr21337Asn)
c.90053C>A (p.Thr30018Asn)
c.85451C>A (p.Thr28484Asn)
c.85448C>A (p.Thr28483Asn)
c.82490C>A (p.Thr27497Asn)
c.64106C>A (p.Thr21369Asn)
c.85601C>A (p.Thr28534Asn)
c.85598C>A (p.Thr28533Asn)
c.85031C>A (p.Thr28344Asn)
c.82373C>A (p.Thr27458Asn)
c.82292C>A (p.Thr27431Asn)
c.64055C>A (p.Thr21352Asn)
c.53909C>A (p.Thr17970Asn)
2g.178551741T>ACA349503352TTN,TTN-AS1c.83455A>T (p.Thr27819Ser)
c.64540A>T (p.Thr21514Ser)
c.64339A>T (p.Thr21447Ser)
c.63964A>T (p.Thr21322Ser)
c.91159A>T (p.Thr30387Ser)
c.86236A>T (p.Thr28746Ser)
n.447-19559T>A
n.2043+9380T>A
c.90256A>T (p.Thr30086Ser)
c.64150A>T (p.Thr21384Ser)
c.64009A>T (p.Thr21337Ser)
c.90052A>T (p.Thr30018Ser)
c.85450A>T (p.Thr28484Ser)
c.85447A>T (p.Thr28483Ser)
c.82489A>T (p.Thr27497Ser)
c.64105A>T (p.Thr21369Ser)
c.85600A>T (p.Thr28534Ser)
c.85597A>T (p.Thr28533Ser)
c.85030A>T (p.Thr28344Ser)
c.82372A>T (p.Thr27458Ser)
c.82291A>T (p.Thr27431Ser)
c.64054A>T (p.Thr21352Ser)
c.53908A>T (p.Thr17970Ser)
 dbSNP
2g.178551741T>CCA349503355TTN,TTN-AS1c.83455A>G (p.Thr27819Ala)
c.64540A>G (p.Thr21514Ala)
c.64339A>G (p.Thr21447Ala)
c.63964A>G (p.Thr21322Ala)
c.91159A>G (p.Thr30387Ala)
c.86236A>G (p.Thr28746Ala)
n.447-19559T>C
n.2043+9380T>C
c.90256A>G (p.Thr30086Ala)
c.64150A>G (p.Thr21384Ala)
c.64009A>G (p.Thr21337Ala)
c.90052A>G (p.Thr30018Ala)
c.85450A>G (p.Thr28484Ala)
c.85447A>G (p.Thr28483Ala)
c.82489A>G (p.Thr27497Ala)
c.64105A>G (p.Thr21369Ala)
c.85600A>G (p.Thr28534Ala)
c.85597A>G (p.Thr28533Ala)
c.85030A>G (p.Thr28344Ala)
c.82372A>G (p.Thr27458Ala)
c.82291A>G (p.Thr27431Ala)
c.64054A>G (p.Thr21352Ala)
c.53908A>G (p.Thr17970Ala)
2g.178551741T>GCA349503357TTN,TTN-AS1c.83455A>C (p.Thr27819Pro)
c.64540A>C (p.Thr21514Pro)
c.64339A>C (p.Thr21447Pro)
c.63964A>C (p.Thr21322Pro)
c.91159A>C (p.Thr30387Pro)
c.86236A>C (p.Thr28746Pro)
n.447-19559T>G
n.2043+9380T>G
c.90256A>C (p.Thr30086Pro)
c.64150A>C (p.Thr21384Pro)
c.64009A>C (p.Thr21337Pro)
c.90052A>C (p.Thr30018Pro)
c.85450A>C (p.Thr28484Pro)
c.85447A>C (p.Thr28483Pro)
c.82489A>C (p.Thr27497Pro)
c.64105A>C (p.Thr21369Pro)
c.85600A>C (p.Thr28534Pro)
c.85597A>C (p.Thr28533Pro)
c.85030A>C (p.Thr28344Pro)
c.82372A>C (p.Thr27458Pro)
c.82291A>C (p.Thr27431Pro)
c.64054A>C (p.Thr21352Pro)
c.53908A>C (p.Thr17970Pro)
2g.178551741T=CA1310521189TTN,TTN-AS1c.83455A= (p.Thr27819=)
c.64540A= (p.Thr21514=)
c.64339A= (p.Thr21447=)
c.63964A= (p.Thr21322=)
c.91159A= (p.Thr30387=)
c.86236A= (p.Thr28746=)
n.447-19559T=
n.2043+9380T=
c.90256A= (p.Thr30086=)
c.64150A= (p.Thr21384=)
c.64009A= (p.Thr21337=)
c.90052A= (p.Thr30018=)
c.85450A= (p.Thr28484=)
c.85447A= (p.Thr28483=)
c.82489A= (p.Thr27497=)
c.64105A= (p.Thr21369=)
c.85600A= (p.Thr28534=)
c.85597A= (p.Thr28533=)
c.85030A= (p.Thr28344=)
c.82372A= (p.Thr27458=)
c.82291A= (p.Thr27431=)
c.64054A= (p.Thr21352=)
c.53908A= (p.Thr17970=)
2g.178551742G>ACA430245151TTN,TTN-AS1c.83454C>T (p.Ala27818=)
c.64539C>T (p.Ala21513=)
c.64338C>T (p.Ala21446=)
c.63963C>T (p.Ala21321=)
c.91158C>T (p.Ala30386=)
c.86235C>T (p.Ala28745=)
n.447-19558G>A
n.2043+9381G>A
c.90255C>T (p.Ala30085=)
c.64149C>T (p.Ala21383=)
c.64008C>T (p.Ala21336=)
c.90051C>T (p.Ala30017=)
c.85449C>T (p.Ala28483=)
c.85446C>T (p.Ala28482=)
c.82488C>T (p.Ala27496=)
c.64104C>T (p.Ala21368=)
c.85599C>T (p.Ala28533=)
c.85596C>T (p.Ala28532=)
c.85029C>T (p.Ala28343=)
c.82371C>T (p.Ala27457=)
c.82290C>T (p.Ala27430=)
c.64053C>T (p.Ala21351=)
c.53907C>T (p.Ala17969=)
 ClinVar
2g.178551742G>CCA430245150TTN,TTN-AS1c.83454C>G (p.Ala27818=)
c.64539C>G (p.Ala21513=)
c.64338C>G (p.Ala21446=)
c.63963C>G (p.Ala21321=)
c.91158C>G (p.Ala30386=)
c.86235C>G (p.Ala28745=)
n.447-19558G>C
n.2043+9381G>C
c.90255C>G (p.Ala30085=)
c.64149C>G (p.Ala21383=)
c.64008C>G (p.Ala21336=)
c.90051C>G (p.Ala30017=)
c.85449C>G (p.Ala28483=)
c.85446C>G (p.Ala28482=)
c.82488C>G (p.Ala27496=)
c.64104C>G (p.Ala21368=)
c.85599C>G (p.Ala28533=)
c.85596C>G (p.Ala28532=)
c.85029C>G (p.Ala28343=)
c.82371C>G (p.Ala27457=)
c.82290C>G (p.Ala27430=)
c.64053C>G (p.Ala21351=)
c.53907C>G (p.Ala17969=)
2g.178551742G>TCA430245149TTN,TTN-AS1c.83454C>A (p.Ala27818=)
c.64539C>A (p.Ala21513=)
c.64338C>A (p.Ala21446=)
c.63963C>A (p.Ala21321=)
c.91158C>A (p.Ala30386=)
c.86235C>A (p.Ala28745=)
n.447-19558G>T
n.2043+9381G>T
c.90255C>A (p.Ala30085=)
c.64149C>A (p.Ala21383=)
c.64008C>A (p.Ala21336=)
c.90051C>A (p.Ala30017=)
c.85449C>A (p.Ala28483=)
c.85446C>A (p.Ala28482=)
c.82488C>A (p.Ala27496=)
c.64104C>A (p.Ala21368=)
c.85599C>A (p.Ala28533=)
c.85596C>A (p.Ala28532=)
c.85029C>A (p.Ala28343=)
c.82371C>A (p.Ala27457=)
c.82290C>A (p.Ala27430=)
c.64053C>A (p.Ala21351=)
c.53907C>A (p.Ala17969=)
 gnomAD v4
2g.178551743G>ACA349503378TTN,TTN-AS1c.83453C>T (p.Ala27818Val)
c.64538C>T (p.Ala21513Val)
c.64337C>T (p.Ala21446Val)
c.63962C>T (p.Ala21321Val)
c.91157C>T (p.Ala30386Val)
c.86234C>T (p.Ala28745Val)
n.447-19557G>A
n.2043+9382G>A
c.90254C>T (p.Ala30085Val)
c.64148C>T (p.Ala21383Val)
c.64007C>T (p.Ala21336Val)
c.90050C>T (p.Ala30017Val)
c.85448C>T (p.Ala28483Val)
c.85445C>T (p.Ala28482Val)
c.82487C>T (p.Ala27496Val)
c.64103C>T (p.Ala21368Val)
c.85598C>T (p.Ala28533Val)
c.85595C>T (p.Ala28532Val)
c.85028C>T (p.Ala28343Val)
c.82370C>T (p.Ala27457Val)
c.82289C>T (p.Ala27430Val)
c.64052C>T (p.Ala21351Val)
c.53906C>T (p.Ala17969Val)
2g.178551743G>CCA349503359TTN,TTN-AS1c.83453C>G (p.Ala27818Gly)
c.64538C>G (p.Ala21513Gly)
c.64337C>G (p.Ala21446Gly)
c.63962C>G (p.Ala21321Gly)
c.91157C>G (p.Ala30386Gly)
c.86234C>G (p.Ala28745Gly)
n.447-19557G>C
n.2043+9382G>C
c.90254C>G (p.Ala30085Gly)
c.64148C>G (p.Ala21383Gly)
c.64007C>G (p.Ala21336Gly)
c.90050C>G (p.Ala30017Gly)
c.85448C>G (p.Ala28483Gly)
c.85445C>G (p.Ala28482Gly)
c.82487C>G (p.Ala27496Gly)
c.64103C>G (p.Ala21368Gly)
c.85598C>G (p.Ala28533Gly)
c.85595C>G (p.Ala28532Gly)
c.85028C>G (p.Ala28343Gly)
c.82370C>G (p.Ala27457Gly)
c.82289C>G (p.Ala27430Gly)
c.64052C>G (p.Ala21351Gly)
c.53906C>G (p.Ala17969Gly)
 gnomAD v4
2g.178551743G>TCA349503375TTN,TTN-AS1c.83453C>A (p.Ala27818Asp)
c.64538C>A (p.Ala21513Asp)
c.64337C>A (p.Ala21446Asp)
c.63962C>A (p.Ala21321Asp)
c.91157C>A (p.Ala30386Asp)
c.86234C>A (p.Ala28745Asp)
n.447-19557G>T
n.2043+9382G>T
c.90254C>A (p.Ala30085Asp)
c.64148C>A (p.Ala21383Asp)
c.64007C>A (p.Ala21336Asp)
c.90050C>A (p.Ala30017Asp)
c.85448C>A (p.Ala28483Asp)
c.85445C>A (p.Ala28482Asp)
c.82487C>A (p.Ala27496Asp)
c.64103C>A (p.Ala21368Asp)
c.85598C>A (p.Ala28533Asp)
c.85595C>A (p.Ala28532Asp)
c.85028C>A (p.Ala28343Asp)
c.82370C>A (p.Ala27457Asp)
c.82289C>A (p.Ala27430Asp)
c.64052C>A (p.Ala21351Asp)
c.53906C>A (p.Ala17969Asp)
2g.178551744C>ACA349503381TTN,TTN-AS1c.83452G>T (p.Ala27818Ser)
c.64537G>T (p.Ala21513Ser)
c.64336G>T (p.Ala21446Ser)
c.63961G>T (p.Ala21321Ser)
c.91156G>T (p.Ala30386Ser)
c.86233G>T (p.Ala28745Ser)
n.447-19556C>A
n.2043+9383C>A
c.90253G>T (p.Ala30085Ser)
c.64147G>T (p.Ala21383Ser)
c.64006G>T (p.Ala21336Ser)
c.90049G>T (p.Ala30017Ser)
c.85447G>T (p.Ala28483Ser)
c.85444G>T (p.Ala28482Ser)
c.82486G>T (p.Ala27496Ser)
c.64102G>T (p.Ala21368Ser)
c.85597G>T (p.Ala28533Ser)
c.85594G>T (p.Ala28532Ser)
c.85027G>T (p.Ala28343Ser)
c.82369G>T (p.Ala27457Ser)
c.82288G>T (p.Ala27430Ser)
c.64051G>T (p.Ala21351Ser)
c.53905G>T (p.Ala17969Ser)
2g.178551744C>GCA349503383TTN,TTN-AS1c.83452G>C (p.Ala27818Pro)
c.64537G>C (p.Ala21513Pro)
c.64336G>C (p.Ala21446Pro)
c.63961G>C (p.Ala21321Pro)
c.91156G>C (p.Ala30386Pro)
c.86233G>C (p.Ala28745Pro)
n.447-19556C>G
n.2043+9383C>G
c.90253G>C (p.Ala30085Pro)
c.64147G>C (p.Ala21383Pro)
c.64006G>C (p.Ala21336Pro)
c.90049G>C (p.Ala30017Pro)
c.85447G>C (p.Ala28483Pro)
c.85444G>C (p.Ala28482Pro)
c.82486G>C (p.Ala27496Pro)
c.64102G>C (p.Ala21368Pro)
c.85597G>C (p.Ala28533Pro)
c.85594G>C (p.Ala28532Pro)
c.85027G>C (p.Ala28343Pro)
c.82369G>C (p.Ala27457Pro)
c.82288G>C (p.Ala27430Pro)
c.64051G>C (p.Ala21351Pro)
c.53905G>C (p.Ala17969Pro)
2g.178551744C>TCA349503386TTN,TTN-AS1c.83452G>A (p.Ala27818Thr)
c.64537G>A (p.Ala21513Thr)
c.64336G>A (p.Ala21446Thr)
c.63961G>A (p.Ala21321Thr)
c.91156G>A (p.Ala30386Thr)
c.86233G>A (p.Ala28745Thr)
n.447-19556C>T
n.2043+9383C>T
c.90253G>A (p.Ala30085Thr)
c.64147G>A (p.Ala21383Thr)
c.64006G>A (p.Ala21336Thr)
c.90049G>A (p.Ala30017Thr)
c.85447G>A (p.Ala28483Thr)
c.85444G>A (p.Ala28482Thr)
c.82486G>A (p.Ala27496Thr)
c.64102G>A (p.Ala21368Thr)
c.85597G>A (p.Ala28533Thr)
c.85594G>A (p.Ala28532Thr)
c.85027G>A (p.Ala28343Thr)
c.82369G>A (p.Ala27457Thr)
c.82288G>A (p.Ala27430Thr)
c.64051G>A (p.Ala21351Thr)
c.53905G>A (p.Ala17969Thr)
 gnomAD v4
2g.178551745T>ACA349503390TTN,TTN-AS1c.83451A>T (p.Arg27817Ser)
c.64536A>T (p.Arg21512Ser)
c.64335A>T (p.Arg21445Ser)
c.63960A>T (p.Arg21320Ser)
c.91155A>T (p.Arg30385Ser)
c.86232A>T (p.Arg28744Ser)
n.447-19555T>A
n.2043+9384T>A
c.90252A>T (p.Arg30084Ser)
c.64146A>T (p.Arg21382Ser)
c.64005A>T (p.Arg21335Ser)
c.90048A>T (p.Arg30016Ser)
c.85446A>T (p.Arg28482Ser)
c.85443A>T (p.Arg28481Ser)
c.82485A>T (p.Arg27495Ser)
c.64101A>T (p.Arg21367Ser)
c.85596A>T (p.Arg28532Ser)
c.85593A>T (p.Arg28531Ser)
c.85026A>T (p.Arg28342Ser)
c.82368A>T (p.Arg27456Ser)
c.82287A>T (p.Arg27429Ser)
c.64050A>T (p.Arg21350Ser)
c.53904A>T (p.Arg17968Ser)
2g.178551745T>CCA430245153TTN,TTN-AS1c.83451A>G (p.Arg27817=)
c.64536A>G (p.Arg21512=)
c.64335A>G (p.Arg21445=)
c.63960A>G (p.Arg21320=)
c.91155A>G (p.Arg30385=)
c.86232A>G (p.Arg28744=)
n.447-19555T>C
n.2043+9384T>C
c.90252A>G (p.Arg30084=)
c.64146A>G (p.Arg21382=)
c.64005A>G (p.Arg21335=)
c.90048A>G (p.Arg30016=)
c.85446A>G (p.Arg28482=)
c.85443A>G (p.Arg28481=)
c.82485A>G (p.Arg27495=)
c.64101A>G (p.Arg21367=)
c.85596A>G (p.Arg28532=)
c.85593A>G (p.Arg28531=)
c.85026A>G (p.Arg28342=)
c.82368A>G (p.Arg27456=)
c.82287A>G (p.Arg27429=)
c.64050A>G (p.Arg21350=)
c.53904A>G (p.Arg17968=)
2g.178551745T>GCA349503392TTN,TTN-AS1c.83451A>C (p.Arg27817Ser)
c.64536A>C (p.Arg21512Ser)
c.64335A>C (p.Arg21445Ser)
c.63960A>C (p.Arg21320Ser)
c.91155A>C (p.Arg30385Ser)
c.86232A>C (p.Arg28744Ser)
n.447-19555T>G
n.2043+9384T>G
c.90252A>C (p.Arg30084Ser)
c.64146A>C (p.Arg21382Ser)
c.64005A>C (p.Arg21335Ser)
c.90048A>C (p.Arg30016Ser)
c.85446A>C (p.Arg28482Ser)
c.85443A>C (p.Arg28481Ser)
c.82485A>C (p.Arg27495Ser)
c.64101A>C (p.Arg21367Ser)
c.85596A>C (p.Arg28532Ser)
c.85593A>C (p.Arg28531Ser)
c.85026A>C (p.Arg28342Ser)
c.82368A>C (p.Arg27456Ser)
c.82287A>C (p.Arg27429Ser)
c.64050A>C (p.Arg21350Ser)
c.53904A>C (p.Arg17968Ser)
2g.178551746C>ACA349503396TTN,TTN-AS1c.83450G>T (p.Arg27817Ile)
c.64535G>T (p.Arg21512Ile)
c.64334G>T (p.Arg21445Ile)
c.63959G>T (p.Arg21320Ile)
c.91154G>T (p.Arg30385Ile)
c.86231G>T (p.Arg28744Ile)
n.447-19554C>A
n.2043+9385C>A
c.90251G>T (p.Arg30084Ile)
c.64145G>T (p.Arg21382Ile)
c.64004G>T (p.Arg21335Ile)
c.90047G>T (p.Arg30016Ile)
c.85445G>T (p.Arg28482Ile)
c.85442G>T (p.Arg28481Ile)
c.82484G>T (p.Arg27495Ile)
c.64100G>T (p.Arg21367Ile)
c.85595G>T (p.Arg28532Ile)
c.85592G>T (p.Arg28531Ile)
c.85025G>T (p.Arg28342Ile)
c.82367G>T (p.Arg27456Ile)
c.82286G>T (p.Arg27429Ile)
c.64049G>T (p.Arg21350Ile)
c.53903G>T (p.Arg17968Ile)
2g.178551746C=CA1310521191TTN,TTN-AS1c.83450G= (p.Arg27817=)
c.64535G= (p.Arg21512=)
c.64334G= (p.Arg21445=)
c.63959G= (p.Arg21320=)
c.91154G= (p.Arg30385=)
c.86231G= (p.Arg28744=)
n.447-19554C=
n.2043+9385C=
c.90251G= (p.Arg30084=)
c.64145G= (p.Arg21382=)
c.64004G= (p.Arg21335=)
c.90047G= (p.Arg30016=)
c.85445G= (p.Arg28482=)
c.85442G= (p.Arg28481=)
c.82484G= (p.Arg27495=)
c.64100G= (p.Arg21367=)
c.85595G= (p.Arg28532=)
c.85592G= (p.Arg28531=)
c.85025G= (p.Arg28342=)
c.82367G= (p.Arg27456=)
c.82286G= (p.Arg27429=)
c.64049G= (p.Arg21350=)
c.53903G= (p.Arg17968=)
2g.178551746C>GCA1987682TTN,TTN-AS1c.83450G>C (p.Arg27817Thr)
c.64535G>C (p.Arg21512Thr)
c.64334G>C (p.Arg21445Thr)
c.63959G>C (p.Arg21320Thr)
c.91154G>C (p.Arg30385Thr)
c.86231G>C (p.Arg28744Thr)
n.447-19554C>G
n.2043+9385C>G
c.90251G>C (p.Arg30084Thr)
c.64145G>C (p.Arg21382Thr)
c.64004G>C (p.Arg21335Thr)
c.90047G>C (p.Arg30016Thr)
c.85445G>C (p.Arg28482Thr)
c.85442G>C (p.Arg28481Thr)
c.82484G>C (p.Arg27495Thr)
c.64100G>C (p.Arg21367Thr)
c.85595G>C (p.Arg28532Thr)
c.85592G>C (p.Arg28531Thr)
c.85025G>C (p.Arg28342Thr)
c.82367G>C (p.Arg27456Thr)
c.82286G>C (p.Arg27429Thr)
c.64049G>C (p.Arg21350Thr)
c.53903G>C (p.Arg17968Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178551746C>TCA349503402TTN,TTN-AS1c.83450G>A (p.Arg27817Lys)
c.64535G>A (p.Arg21512Lys)
c.64334G>A (p.Arg21445Lys)
c.63959G>A (p.Arg21320Lys)
c.91154G>A (p.Arg30385Lys)
c.86231G>A (p.Arg28744Lys)
n.447-19554C>T
n.2043+9385C>T
c.90251G>A (p.Arg30084Lys)
c.64145G>A (p.Arg21382Lys)
c.64004G>A (p.Arg21335Lys)
c.90047G>A (p.Arg30016Lys)
c.85445G>A (p.Arg28482Lys)
c.85442G>A (p.Arg28481Lys)
c.82484G>A (p.Arg27495Lys)
c.64100G>A (p.Arg21367Lys)
c.85595G>A (p.Arg28532Lys)
c.85592G>A (p.Arg28531Lys)
c.85025G>A (p.Arg28342Lys)
c.82367G>A (p.Arg27456Lys)
c.82286G>A (p.Arg27429Lys)
c.64049G>A (p.Arg21350Lys)
c.53903G>A (p.Arg17968Lys)
2g.178551747T>ACA349503409TTN,TTN-AS1c.83449A>T (p.Arg27817Ter)
c.64534A>T (p.Arg21512Ter)
c.64333A>T (p.Arg21445Ter)
c.63958A>T (p.Arg21320Ter)
c.91153A>T (p.Arg30385Ter)
c.86230A>T (p.Arg28744Ter)
n.447-19553T>A
n.2043+9386T>A
c.90250A>T (p.Arg30084Ter)
c.64144A>T (p.Arg21382Ter)
c.64003A>T (p.Arg21335Ter)
c.90046A>T (p.Arg30016Ter)
c.85444A>T (p.Arg28482Ter)
c.85441A>T (p.Arg28481Ter)
c.82483A>T (p.Arg27495Ter)
c.64099A>T (p.Arg21367Ter)
c.85594A>T (p.Arg28532Ter)
c.85591A>T (p.Arg28531Ter)
c.85024A>T (p.Arg28342Ter)
c.82366A>T (p.Arg27456Ter)
c.82285A>T (p.Arg27429Ter)
c.64048A>T (p.Arg21350Ter)
c.53902A>T (p.Arg17968Ter)
2g.178551747T>CCA60977136TTN,TTN-AS1c.83449A>G (p.Arg27817Gly)
c.64534A>G (p.Arg21512Gly)
c.64333A>G (p.Arg21445Gly)
c.63958A>G (p.Arg21320Gly)
c.91153A>G (p.Arg30385Gly)
c.86230A>G (p.Arg28744Gly)
n.447-19553T>C
n.2043+9386T>C
c.90250A>G (p.Arg30084Gly)
c.64144A>G (p.Arg21382Gly)
c.64003A>G (p.Arg21335Gly)
c.90046A>G (p.Arg30016Gly)
c.85444A>G (p.Arg28482Gly)
c.85441A>G (p.Arg28481Gly)
c.82483A>G (p.Arg27495Gly)
c.64099A>G (p.Arg21367Gly)
c.85594A>G (p.Arg28532Gly)
c.85591A>G (p.Arg28531Gly)
c.85024A>G (p.Arg28342Gly)
c.82366A>G (p.Arg27456Gly)
c.82285A>G (p.Arg27429Gly)
c.64048A>G (p.Arg21350Gly)
c.53902A>G (p.Arg17968Gly)
 dbSNP
2g.178551747T>GCA430245155TTN,TTN-AS1c.83449A>C (p.Arg27817=)
c.64534A>C (p.Arg21512=)
c.64333A>C (p.Arg21445=)
c.63958A>C (p.Arg21320=)
c.91153A>C (p.Arg30385=)
c.86230A>C (p.Arg28744=)
n.447-19553T>G
n.2043+9386T>G
c.90250A>C (p.Arg30084=)
c.64144A>C (p.Arg21382=)
c.64003A>C (p.Arg21335=)
c.90046A>C (p.Arg30016=)
c.85444A>C (p.Arg28482=)
c.85441A>C (p.Arg28481=)
c.82483A>C (p.Arg27495=)
c.64099A>C (p.Arg21367=)
c.85594A>C (p.Arg28532=)
c.85591A>C (p.Arg28531=)
c.85024A>C (p.Arg28342=)
c.82366A>C (p.Arg27456=)
c.82285A>C (p.Arg27429=)
c.64048A>C (p.Arg21350=)
c.53902A>C (p.Arg17968=)
2g.178551747T=CA1310521193TTN,TTN-AS1c.83449A= (p.Arg27817=)
c.64534A= (p.Arg21512=)
c.64333A= (p.Arg21445=)
c.63958A= (p.Arg21320=)
c.91153A= (p.Arg30385=)
c.86230A= (p.Arg28744=)
n.447-19553T=
n.2043+9386T=
c.90250A= (p.Arg30084=)
c.64144A= (p.Arg21382=)
c.64003A= (p.Arg21335=)
c.90046A= (p.Arg30016=)
c.85444A= (p.Arg28482=)
c.85441A= (p.Arg28481=)
c.82483A= (p.Arg27495=)
c.64099A= (p.Arg21367=)
c.85594A= (p.Arg28532=)
c.85591A= (p.Arg28531=)
c.85024A= (p.Arg28342=)
c.82366A= (p.Arg27456=)
c.82285A= (p.Arg27429=)
c.64048A= (p.Arg21350=)
c.53902A= (p.Arg17968=)
2g.178551747_178551748delinsCTCA2586970719TTN,TTN-AS1c.83448_83449delinsAG (p.Tyr27816Ter)
c.64533_64534delinsAG (p.Tyr21511Ter)
c.64332_64333delinsAG (p.Tyr21444Ter)
c.63957_63958delinsAG (p.Tyr21319Ter)
c.91152_91153delinsAG (p.Tyr30384Ter)
c.86229_86230delinsAG (p.Tyr28743Ter)
n.447-19553_447-19552delinsCT
n.2043+9386_2043+9387delinsCT
c.90249_90250delinsAG (p.Tyr30083Ter)
c.64143_64144delinsAG (p.Tyr21381Ter)
c.64002_64003delinsAG (p.Tyr21334Ter)
c.90045_90046delinsAG (p.Tyr30015Ter)
c.85443_85444delinsAG (p.Tyr28481Ter)
c.85440_85441delinsAG (p.Tyr28480Ter)
c.82482_82483delinsAG (p.Tyr27494Ter)
c.64098_64099delinsAG (p.Tyr21366Ter)
c.85593_85594delinsAG (p.Tyr28531Ter)
c.85590_85591delinsAG (p.Tyr28530Ter)
c.85023_85024delinsAG (p.Tyr28341Ter)
c.82365_82366delinsAG (p.Tyr27455Ter)
c.82284_82285delinsAG (p.Tyr27428Ter)
c.64047_64048delinsAG (p.Tyr21349Ter)
c.53901_53902delinsAG (p.Tyr17967Ter)
2g.178551748A=CA1310521195TTN,TTN-AS1c.83448T= (p.Tyr27816=)
c.64533T= (p.Tyr21511=)
c.64332T= (p.Tyr21444=)
c.63957T= (p.Tyr21319=)
c.91152T= (p.Tyr30384=)
c.86229T= (p.Tyr28743=)
n.447-19552A=
n.2043+9387A=
c.90249T= (p.Tyr30083=)
c.64143T= (p.Tyr21381=)
c.64002T= (p.Tyr21334=)
c.90045T= (p.Tyr30015=)
c.85443T= (p.Tyr28481=)
c.85440T= (p.Tyr28480=)
c.82482T= (p.Tyr27494=)
c.64098T= (p.Tyr21366=)
c.85593T= (p.Tyr28531=)
c.85590T= (p.Tyr28530=)
c.85023T= (p.Tyr28341=)
c.82365T= (p.Tyr27455=)
c.82284T= (p.Tyr27428=)
c.64047T= (p.Tyr21349=)
c.53901T= (p.Tyr17967=)
2g.178551748A>CCA349503415TTN,TTN-AS1c.83448T>G (p.Tyr27816Ter)
c.64533T>G (p.Tyr21511Ter)
c.64332T>G (p.Tyr21444Ter)
c.63957T>G (p.Tyr21319Ter)
c.91152T>G (p.Tyr30384Ter)
c.86229T>G (p.Tyr28743Ter)
n.447-19552A>C
n.2043+9387A>C
c.90249T>G (p.Tyr30083Ter)
c.64143T>G (p.Tyr21381Ter)
c.64002T>G (p.Tyr21334Ter)
c.90045T>G (p.Tyr30015Ter)
c.85443T>G (p.Tyr28481Ter)
c.85440T>G (p.Tyr28480Ter)
c.82482T>G (p.Tyr27494Ter)
c.64098T>G (p.Tyr21366Ter)
c.85593T>G (p.Tyr28531Ter)
c.85590T>G (p.Tyr28530Ter)
c.85023T>G (p.Tyr28341Ter)
c.82365T>G (p.Tyr27455Ter)
c.82284T>G (p.Tyr27428Ter)
c.64047T>G (p.Tyr21349Ter)
c.53901T>G (p.Tyr17967Ter)
2g.178551748A>GCA430245156TTN,TTN-AS1c.83448T>C (p.Tyr27816=)
c.64533T>C (p.Tyr21511=)
c.64332T>C (p.Tyr21444=)
c.63957T>C (p.Tyr21319=)
c.91152T>C (p.Tyr30384=)
c.86229T>C (p.Tyr28743=)
n.447-19552A>G
n.2043+9387A>G
c.90249T>C (p.Tyr30083=)
c.64143T>C (p.Tyr21381=)
c.64002T>C (p.Tyr21334=)
c.90045T>C (p.Tyr30015=)
c.85443T>C (p.Tyr28481=)
c.85440T>C (p.Tyr28480=)
c.82482T>C (p.Tyr27494=)
c.64098T>C (p.Tyr21366=)
c.85593T>C (p.Tyr28531=)
c.85590T>C (p.Tyr28530=)
c.85023T>C (p.Tyr28341=)
c.82365T>C (p.Tyr27455=)
c.82284T>C (p.Tyr27428=)
c.64047T>C (p.Tyr21349=)
c.53901T>C (p.Tyr17967=)
 ClinVar dbSNP gnomAD v4
2g.178551748A>TCA60977137TTN,TTN-AS1c.83448T>A (p.Tyr27816Ter)
c.64533T>A (p.Tyr21511Ter)
c.64332T>A (p.Tyr21444Ter)
c.63957T>A (p.Tyr21319Ter)
c.91152T>A (p.Tyr30384Ter)
c.86229T>A (p.Tyr28743Ter)
n.447-19552A>T
n.2043+9387A>T
c.90249T>A (p.Tyr30083Ter)
c.64143T>A (p.Tyr21381Ter)
c.64002T>A (p.Tyr21334Ter)
c.90045T>A (p.Tyr30015Ter)
c.85443T>A (p.Tyr28481Ter)
c.85440T>A (p.Tyr28480Ter)
c.82482T>A (p.Tyr27494Ter)
c.64098T>A (p.Tyr21366Ter)
c.85593T>A (p.Tyr28531Ter)
c.85590T>A (p.Tyr28530Ter)
c.85023T>A (p.Tyr28341Ter)
c.82365T>A (p.Tyr27455Ter)
c.82284T>A (p.Tyr27428Ter)
c.64047T>A (p.Tyr21349Ter)
c.53901T>A (p.Tyr17967Ter)
 ClinVar dbSNP
2g.178551749T>ACA349503436TTN,TTN-AS1c.83447A>T (p.Tyr27816Phe)
c.64532A>T (p.Tyr21511Phe)
c.64331A>T (p.Tyr21444Phe)
c.63956A>T (p.Tyr21319Phe)
c.91151A>T (p.Tyr30384Phe)
c.86228A>T (p.Tyr28743Phe)
n.447-19551T>A
n.2043+9388T>A
c.90248A>T (p.Tyr30083Phe)
c.64142A>T (p.Tyr21381Phe)
c.64001A>T (p.Tyr21334Phe)
c.90044A>T (p.Tyr30015Phe)
c.85442A>T (p.Tyr28481Phe)
c.85439A>T (p.Tyr28480Phe)
c.82481A>T (p.Tyr27494Phe)
c.64097A>T (p.Tyr21366Phe)
c.85592A>T (p.Tyr28531Phe)
c.85589A>T (p.Tyr28530Phe)
c.85022A>T (p.Tyr28341Phe)
c.82364A>T (p.Tyr27455Phe)
c.82283A>T (p.Tyr27428Phe)
c.64046A>T (p.Tyr21349Phe)
c.53900A>T (p.Tyr17967Phe)
2g.178551749T>CCA349503430TTN,TTN-AS1c.83447A>G (p.Tyr27816Cys)
c.64532A>G (p.Tyr21511Cys)
c.64331A>G (p.Tyr21444Cys)
c.63956A>G (p.Tyr21319Cys)
c.91151A>G (p.Tyr30384Cys)
c.86228A>G (p.Tyr28743Cys)
n.447-19551T>C
n.2043+9388T>C
c.90248A>G (p.Tyr30083Cys)
c.64142A>G (p.Tyr21381Cys)
c.64001A>G (p.Tyr21334Cys)
c.90044A>G (p.Tyr30015Cys)
c.85442A>G (p.Tyr28481Cys)
c.85439A>G (p.Tyr28480Cys)
c.82481A>G (p.Tyr27494Cys)
c.64097A>G (p.Tyr21366Cys)
c.85592A>G (p.Tyr28531Cys)
c.85589A>G (p.Tyr28530Cys)
c.85022A>G (p.Tyr28341Cys)
c.82364A>G (p.Tyr27455Cys)
c.82283A>G (p.Tyr27428Cys)
c.64046A>G (p.Tyr21349Cys)
c.53900A>G (p.Tyr17967Cys)
2g.178551749T>GCA349503426TTN,TTN-AS1c.83447A>C (p.Tyr27816Ser)
c.64532A>C (p.Tyr21511Ser)
c.64331A>C (p.Tyr21444Ser)
c.63956A>C (p.Tyr21319Ser)
c.91151A>C (p.Tyr30384Ser)
c.86228A>C (p.Tyr28743Ser)
n.447-19551T>G
n.2043+9388T>G
c.90248A>C (p.Tyr30083Ser)
c.64142A>C (p.Tyr21381Ser)
c.64001A>C (p.Tyr21334Ser)
c.90044A>C (p.Tyr30015Ser)
c.85442A>C (p.Tyr28481Ser)
c.85439A>C (p.Tyr28480Ser)
c.82481A>C (p.Tyr27494Ser)
c.64097A>C (p.Tyr21366Ser)
c.85592A>C (p.Tyr28531Ser)
c.85589A>C (p.Tyr28530Ser)
c.85022A>C (p.Tyr28341Ser)
c.82364A>C (p.Tyr27455Ser)
c.82283A>C (p.Tyr27428Ser)
c.64046A>C (p.Tyr21349Ser)
c.53900A>C (p.Tyr17967Ser)
2g.178551750A>CCA349503440TTN,TTN-AS1c.83446T>G (p.Tyr27816Asp)
c.64531T>G (p.Tyr21511Asp)
c.64330T>G (p.Tyr21444Asp)
c.63955T>G (p.Tyr21319Asp)
c.91150T>G (p.Tyr30384Asp)
c.86227T>G (p.Tyr28743Asp)
n.447-19550A>C
n.2043+9389A>C
c.90247T>G (p.Tyr30083Asp)
c.64141T>G (p.Tyr21381Asp)
c.64000T>G (p.Tyr21334Asp)
c.90043T>G (p.Tyr30015Asp)
c.85441T>G (p.Tyr28481Asp)
c.85438T>G (p.Tyr28480Asp)
c.82480T>G (p.Tyr27494Asp)
c.64096T>G (p.Tyr21366Asp)
c.85591T>G (p.Tyr28531Asp)
c.85588T>G (p.Tyr28530Asp)
c.85021T>G (p.Tyr28341Asp)
c.82363T>G (p.Tyr27455Asp)
c.82282T>G (p.Tyr27428Asp)
c.64045T>G (p.Tyr21349Asp)
c.53899T>G (p.Tyr17967Asp)
2g.178551750A>GCA349503441TTN,TTN-AS1c.83446T>C (p.Tyr27816His)
c.64531T>C (p.Tyr21511His)
c.64330T>C (p.Tyr21444His)
c.63955T>C (p.Tyr21319His)
c.91150T>C (p.Tyr30384His)
c.86227T>C (p.Tyr28743His)
n.447-19550A>G
n.2043+9389A>G
c.90247T>C (p.Tyr30083His)
c.64141T>C (p.Tyr21381His)
c.64000T>C (p.Tyr21334His)
c.90043T>C (p.Tyr30015His)
c.85441T>C (p.Tyr28481His)
c.85438T>C (p.Tyr28480His)
c.82480T>C (p.Tyr27494His)
c.64096T>C (p.Tyr21366His)
c.85591T>C (p.Tyr28531His)
c.85588T>C (p.Tyr28530His)
c.85021T>C (p.Tyr28341His)
c.82363T>C (p.Tyr27455His)
c.82282T>C (p.Tyr27428His)
c.64045T>C (p.Tyr21349His)
c.53899T>C (p.Tyr17967His)
2g.178551750A>TCA349503442TTN,TTN-AS1c.83446T>A (p.Tyr27816Asn)
c.64531T>A (p.Tyr21511Asn)
c.64330T>A (p.Tyr21444Asn)
c.63955T>A (p.Tyr21319Asn)
c.91150T>A (p.Tyr30384Asn)
c.86227T>A (p.Tyr28743Asn)
n.447-19550A>T
n.2043+9389A>T
c.90247T>A (p.Tyr30083Asn)
c.64141T>A (p.Tyr21381Asn)
c.64000T>A (p.Tyr21334Asn)
c.90043T>A (p.Tyr30015Asn)
c.85441T>A (p.Tyr28481Asn)
c.85438T>A (p.Tyr28480Asn)
c.82480T>A (p.Tyr27494Asn)
c.64096T>A (p.Tyr21366Asn)
c.85591T>A (p.Tyr28531Asn)
c.85588T>A (p.Tyr28530Asn)
c.85021T>A (p.Tyr28341Asn)
c.82363T>A (p.Tyr27455Asn)
c.82282T>A (p.Tyr27428Asn)
c.64045T>A (p.Tyr21349Asn)
c.53899T>A (p.Tyr17967Asn)
2g.178551751T>ACA349503444TTN,TTN-AS1c.83445A>T (p.Glu27815Asp)
c.64530A>T (p.Glu21510Asp)
c.64329A>T (p.Glu21443Asp)
c.63954A>T (p.Glu21318Asp)
c.91149A>T (p.Glu30383Asp)
c.86226A>T (p.Glu28742Asp)
n.447-19549T>A
n.2043+9390T>A
c.90246A>T (p.Glu30082Asp)
c.64140A>T (p.Glu21380Asp)
c.63999A>T (p.Glu21333Asp)
c.90042A>T (p.Glu30014Asp)
c.85440A>T (p.Glu28480Asp)
c.85437A>T (p.Glu28479Asp)
c.82479A>T (p.Glu27493Asp)
c.64095A>T (p.Glu21365Asp)
c.85590A>T (p.Glu28530Asp)
c.85587A>T (p.Glu28529Asp)
c.85020A>T (p.Glu28340Asp)
c.82362A>T (p.Glu27454Asp)
c.82281A>T (p.Glu27427Asp)
c.64044A>T (p.Glu21348Asp)
c.53898A>T (p.Glu17966Asp)
2g.178551751T>CCA430245161TTN,TTN-AS1c.83445A>G (p.Glu27815=)
c.64530A>G (p.Glu21510=)
c.64329A>G (p.Glu21443=)
c.63954A>G (p.Glu21318=)
c.91149A>G (p.Glu30383=)
c.86226A>G (p.Glu28742=)
n.447-19549T>C
n.2043+9390T>C
c.90246A>G (p.Glu30082=)
c.64140A>G (p.Glu21380=)
c.63999A>G (p.Glu21333=)
c.90042A>G (p.Glu30014=)
c.85440A>G (p.Glu28480=)
c.85437A>G (p.Glu28479=)
c.82479A>G (p.Glu27493=)
c.64095A>G (p.Glu21365=)
c.85590A>G (p.Glu28530=)
c.85587A>G (p.Glu28529=)
c.85020A>G (p.Glu28340=)
c.82362A>G (p.Glu27454=)
c.82281A>G (p.Glu27427=)
c.64044A>G (p.Glu21348=)
c.53898A>G (p.Glu17966=)
2g.178551751T>GCA349503445TTN,TTN-AS1c.83445A>C (p.Glu27815Asp)
c.64530A>C (p.Glu21510Asp)
c.64329A>C (p.Glu21443Asp)
c.63954A>C (p.Glu21318Asp)
c.91149A>C (p.Glu30383Asp)
c.86226A>C (p.Glu28742Asp)
n.447-19549T>G
n.2043+9390T>G
c.90246A>C (p.Glu30082Asp)
c.64140A>C (p.Glu21380Asp)
c.63999A>C (p.Glu21333Asp)
c.90042A>C (p.Glu30014Asp)
c.85440A>C (p.Glu28480Asp)
c.85437A>C (p.Glu28479Asp)
c.82479A>C (p.Glu27493Asp)
c.64095A>C (p.Glu21365Asp)
c.85590A>C (p.Glu28530Asp)
c.85587A>C (p.Glu28529Asp)
c.85020A>C (p.Glu28340Asp)
c.82362A>C (p.Glu27454Asp)
c.82281A>C (p.Glu27427Asp)
c.64044A>C (p.Glu21348Asp)
c.53898A>C (p.Glu17966Asp)
2g.178551752T>ACA349503447TTN,TTN-AS1c.83444A>T (p.Glu27815Val)
c.64529A>T (p.Glu21510Val)
c.64328A>T (p.Glu21443Val)
c.63953A>T (p.Glu21318Val)
c.91148A>T (p.Glu30383Val)
c.86225A>T (p.Glu28742Val)
n.447-19548T>A
n.2043+9391T>A
c.90245A>T (p.Glu30082Val)
c.64139A>T (p.Glu21380Val)
c.63998A>T (p.Glu21333Val)
c.90041A>T (p.Glu30014Val)
c.85439A>T (p.Glu28480Val)
c.85436A>T (p.Glu28479Val)
c.82478A>T (p.Glu27493Val)
c.64094A>T (p.Glu21365Val)
c.85589A>T (p.Glu28530Val)
c.85586A>T (p.Glu28529Val)
c.85019A>T (p.Glu28340Val)
c.82361A>T (p.Glu27454Val)
c.82280A>T (p.Glu27427Val)
c.64043A>T (p.Glu21348Val)
c.53897A>T (p.Glu17966Val)
2g.178551752T>CCA349503452TTN,TTN-AS1c.83444A>G (p.Glu27815Gly)
c.64529A>G (p.Glu21510Gly)
c.64328A>G (p.Glu21443Gly)
c.63953A>G (p.Glu21318Gly)
c.91148A>G (p.Glu30383Gly)
c.86225A>G (p.Glu28742Gly)
n.447-19548T>C
n.2043+9391T>C
c.90245A>G (p.Glu30082Gly)
c.64139A>G (p.Glu21380Gly)
c.63998A>G (p.Glu21333Gly)
c.90041A>G (p.Glu30014Gly)
c.85439A>G (p.Glu28480Gly)
c.85436A>G (p.Glu28479Gly)
c.82478A>G (p.Glu27493Gly)
c.64094A>G (p.Glu21365Gly)
c.85589A>G (p.Glu28530Gly)
c.85586A>G (p.Glu28529Gly)
c.85019A>G (p.Glu28340Gly)
c.82361A>G (p.Glu27454Gly)
c.82280A>G (p.Glu27427Gly)
c.64043A>G (p.Glu21348Gly)
c.53897A>G (p.Glu17966Gly)

Number of alleles fetched