Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178552568A=CA1310522121TTN,TTN-AS1c.82628T= (p.Leu27543=)
c.63713T= (p.Leu21238=)
c.63512T= (p.Leu21171=)
c.63137T= (p.Leu21046=)
c.90332T= (p.Leu30111=)
c.85409T= (p.Leu28470=)
n.447-18732A=
n.2043+10207A=
c.89429T= (p.Leu29810=)
c.63323T= (p.Leu21108=)
c.63182T= (p.Leu21061=)
c.89225T= (p.Leu29742=)
c.84623T= (p.Leu28208=)
c.84620T= (p.Leu28207=)
c.81662T= (p.Leu27221=)
c.63278T= (p.Leu21093=)
c.84773T= (p.Leu28258=)
c.84770T= (p.Leu28257=)
c.84203T= (p.Leu28068=)
c.81545T= (p.Leu27182=)
c.81464T= (p.Leu27155=)
c.63227T= (p.Leu21076=)
c.53081T= (p.Leu17694=)
2g.178552568A>CCA349511739TTN,TTN-AS1c.82628T>G (p.Leu27543Arg)
c.63713T>G (p.Leu21238Arg)
c.63512T>G (p.Leu21171Arg)
c.63137T>G (p.Leu21046Arg)
c.90332T>G (p.Leu30111Arg)
c.85409T>G (p.Leu28470Arg)
n.447-18732A>C
n.2043+10207A>C
c.89429T>G (p.Leu29810Arg)
c.63323T>G (p.Leu21108Arg)
c.63182T>G (p.Leu21061Arg)
c.89225T>G (p.Leu29742Arg)
c.84623T>G (p.Leu28208Arg)
c.84620T>G (p.Leu28207Arg)
c.81662T>G (p.Leu27221Arg)
c.63278T>G (p.Leu21093Arg)
c.84773T>G (p.Leu28258Arg)
c.84770T>G (p.Leu28257Arg)
c.84203T>G (p.Leu28068Arg)
c.81545T>G (p.Leu27182Arg)
c.81464T>G (p.Leu27155Arg)
c.63227T>G (p.Leu21076Arg)
c.53081T>G (p.Leu17694Arg)
2g.178552568A>GCA1987801TTN,TTN-AS1c.82628T>C (p.Leu27543Pro)
c.63713T>C (p.Leu21238Pro)
c.63512T>C (p.Leu21171Pro)
c.63137T>C (p.Leu21046Pro)
c.90332T>C (p.Leu30111Pro)
c.85409T>C (p.Leu28470Pro)
n.447-18732A>G
n.2043+10207A>G
c.89429T>C (p.Leu29810Pro)
c.63323T>C (p.Leu21108Pro)
c.63182T>C (p.Leu21061Pro)
c.89225T>C (p.Leu29742Pro)
c.84623T>C (p.Leu28208Pro)
c.84620T>C (p.Leu28207Pro)
c.81662T>C (p.Leu27221Pro)
c.63278T>C (p.Leu21093Pro)
c.84773T>C (p.Leu28258Pro)
c.84770T>C (p.Leu28257Pro)
c.84203T>C (p.Leu28068Pro)
c.81545T>C (p.Leu27182Pro)
c.81464T>C (p.Leu27155Pro)
c.63227T>C (p.Leu21076Pro)
c.53081T>C (p.Leu17694Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178552568A>TCA349511748TTN,TTN-AS1c.82628T>A (p.Leu27543Gln)
c.63713T>A (p.Leu21238Gln)
c.63512T>A (p.Leu21171Gln)
c.63137T>A (p.Leu21046Gln)
c.90332T>A (p.Leu30111Gln)
c.85409T>A (p.Leu28470Gln)
n.447-18732A>T
n.2043+10207A>T
c.89429T>A (p.Leu29810Gln)
c.63323T>A (p.Leu21108Gln)
c.63182T>A (p.Leu21061Gln)
c.89225T>A (p.Leu29742Gln)
c.84623T>A (p.Leu28208Gln)
c.84620T>A (p.Leu28207Gln)
c.81662T>A (p.Leu27221Gln)
c.63278T>A (p.Leu21093Gln)
c.84773T>A (p.Leu28258Gln)
c.84770T>A (p.Leu28257Gln)
c.84203T>A (p.Leu28068Gln)
c.81545T>A (p.Leu27182Gln)
c.81464T>A (p.Leu27155Gln)
c.63227T>A (p.Leu21076Gln)
c.53081T>A (p.Leu17694Gln)
2g.178552569G>ACA430245466TTN,TTN-AS1c.82627C>T (p.Leu27543=)
c.63712C>T (p.Leu21238=)
c.63511C>T (p.Leu21171=)
c.63136C>T (p.Leu21046=)
c.90331C>T (p.Leu30111=)
c.85408C>T (p.Leu28470=)
n.447-18731G>A
n.2043+10208G>A
c.89428C>T (p.Leu29810=)
c.63322C>T (p.Leu21108=)
c.63181C>T (p.Leu21061=)
c.89224C>T (p.Leu29742=)
c.84622C>T (p.Leu28208=)
c.84619C>T (p.Leu28207=)
c.81661C>T (p.Leu27221=)
c.63277C>T (p.Leu21093=)
c.84772C>T (p.Leu28258=)
c.84769C>T (p.Leu28257=)
c.84202C>T (p.Leu28068=)
c.81544C>T (p.Leu27182=)
c.81463C>T (p.Leu27155=)
c.63226C>T (p.Leu21076=)
c.53080C>T (p.Leu17694=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178552569G>CCA349511760TTN,TTN-AS1c.82627C>G (p.Leu27543Val)
c.63712C>G (p.Leu21238Val)
c.63511C>G (p.Leu21171Val)
c.63136C>G (p.Leu21046Val)
c.90331C>G (p.Leu30111Val)
c.85408C>G (p.Leu28470Val)
n.447-18731G>C
n.2043+10208G>C
c.89428C>G (p.Leu29810Val)
c.63322C>G (p.Leu21108Val)
c.63181C>G (p.Leu21061Val)
c.89224C>G (p.Leu29742Val)
c.84622C>G (p.Leu28208Val)
c.84619C>G (p.Leu28207Val)
c.81661C>G (p.Leu27221Val)
c.63277C>G (p.Leu21093Val)
c.84772C>G (p.Leu28258Val)
c.84769C>G (p.Leu28257Val)
c.84202C>G (p.Leu28068Val)
c.81544C>G (p.Leu27182Val)
c.81463C>G (p.Leu27155Val)
c.63226C>G (p.Leu21076Val)
c.53080C>G (p.Leu17694Val)
2g.178552569G=CA1310522123TTN,TTN-AS1c.82627C= (p.Leu27543=)
c.63712C= (p.Leu21238=)
c.63511C= (p.Leu21171=)
c.63136C= (p.Leu21046=)
c.90331C= (p.Leu30111=)
c.85408C= (p.Leu28470=)
n.447-18731G=
n.2043+10208G=
c.89428C= (p.Leu29810=)
c.63322C= (p.Leu21108=)
c.63181C= (p.Leu21061=)
c.89224C= (p.Leu29742=)
c.84622C= (p.Leu28208=)
c.84619C= (p.Leu28207=)
c.81661C= (p.Leu27221=)
c.63277C= (p.Leu21093=)
c.84772C= (p.Leu28258=)
c.84769C= (p.Leu28257=)
c.84202C= (p.Leu28068=)
c.81544C= (p.Leu27182=)
c.81463C= (p.Leu27155=)
c.63226C= (p.Leu21076=)
c.53080C= (p.Leu17694=)
2g.178552569G>TCA349511762TTN,TTN-AS1c.82627C>A (p.Leu27543Met)
c.63712C>A (p.Leu21238Met)
c.63511C>A (p.Leu21171Met)
c.63136C>A (p.Leu21046Met)
c.90331C>A (p.Leu30111Met)
c.85408C>A (p.Leu28470Met)
n.447-18731G>T
n.2043+10208G>T
c.89428C>A (p.Leu29810Met)
c.63322C>A (p.Leu21108Met)
c.63181C>A (p.Leu21061Met)
c.89224C>A (p.Leu29742Met)
c.84622C>A (p.Leu28208Met)
c.84619C>A (p.Leu28207Met)
c.81661C>A (p.Leu27221Met)
c.63277C>A (p.Leu21093Met)
c.84772C>A (p.Leu28258Met)
c.84769C>A (p.Leu28257Met)
c.84202C>A (p.Leu28068Met)
c.81544C>A (p.Leu27182Met)
c.81463C>A (p.Leu27155Met)
c.63226C>A (p.Leu21076Met)
c.53080C>A (p.Leu17694Met)
2g.178552570T>ACA430245467TTN,TTN-AS1c.82626A>T (p.Gly27542=)
c.63711A>T (p.Gly21237=)
c.63510A>T (p.Gly21170=)
c.63135A>T (p.Gly21045=)
c.90330A>T (p.Gly30110=)
c.85407A>T (p.Gly28469=)
n.447-18730T>A
n.2043+10209T>A
c.89427A>T (p.Gly29809=)
c.63321A>T (p.Gly21107=)
c.63180A>T (p.Gly21060=)
c.89223A>T (p.Gly29741=)
c.84621A>T (p.Gly28207=)
c.84618A>T (p.Gly28206=)
c.81660A>T (p.Gly27220=)
c.63276A>T (p.Gly21092=)
c.84771A>T (p.Gly28257=)
c.84768A>T (p.Gly28256=)
c.84201A>T (p.Gly28067=)
c.81543A>T (p.Gly27181=)
c.81462A>T (p.Gly27154=)
c.63225A>T (p.Gly21075=)
c.53079A>T (p.Gly17693=)
2g.178552570T>CCA430245468TTN,TTN-AS1c.82626A>G (p.Gly27542=)
c.63711A>G (p.Gly21237=)
c.63510A>G (p.Gly21170=)
c.63135A>G (p.Gly21045=)
c.90330A>G (p.Gly30110=)
c.85407A>G (p.Gly28469=)
n.447-18730T>C
n.2043+10209T>C
c.89427A>G (p.Gly29809=)
c.63321A>G (p.Gly21107=)
c.63180A>G (p.Gly21060=)
c.89223A>G (p.Gly29741=)
c.84621A>G (p.Gly28207=)
c.84618A>G (p.Gly28206=)
c.81660A>G (p.Gly27220=)
c.63276A>G (p.Gly21092=)
c.84771A>G (p.Gly28257=)
c.84768A>G (p.Gly28256=)
c.84201A>G (p.Gly28067=)
c.81543A>G (p.Gly27181=)
c.81462A>G (p.Gly27154=)
c.63225A>G (p.Gly21075=)
c.53079A>G (p.Gly17693=)
2g.178552570T>GCA430245469TTN,TTN-AS1c.82626A>C (p.Gly27542=)
c.63711A>C (p.Gly21237=)
c.63510A>C (p.Gly21170=)
c.63135A>C (p.Gly21045=)
c.90330A>C (p.Gly30110=)
c.85407A>C (p.Gly28469=)
n.447-18730T>G
n.2043+10209T>G
c.89427A>C (p.Gly29809=)
c.63321A>C (p.Gly21107=)
c.63180A>C (p.Gly21060=)
c.89223A>C (p.Gly29741=)
c.84621A>C (p.Gly28207=)
c.84618A>C (p.Gly28206=)
c.81660A>C (p.Gly27220=)
c.63276A>C (p.Gly21092=)
c.84771A>C (p.Gly28257=)
c.84768A>C (p.Gly28256=)
c.84201A>C (p.Gly28067=)
c.81543A>C (p.Gly27181=)
c.81462A>C (p.Gly27154=)
c.63225A>C (p.Gly21075=)
c.53079A>C (p.Gly17693=)
2g.178552571C>ACA349511766TTN,TTN-AS1c.82625G>T (p.Gly27542Val)
c.63710G>T (p.Gly21237Val)
c.63509G>T (p.Gly21170Val)
c.63134G>T (p.Gly21045Val)
c.90329G>T (p.Gly30110Val)
c.85406G>T (p.Gly28469Val)
n.447-18729C>A
n.2043+10210C>A
c.89426G>T (p.Gly29809Val)
c.63320G>T (p.Gly21107Val)
c.63179G>T (p.Gly21060Val)
c.89222G>T (p.Gly29741Val)
c.84620G>T (p.Gly28207Val)
c.84617G>T (p.Gly28206Val)
c.81659G>T (p.Gly27220Val)
c.63275G>T (p.Gly21092Val)
c.84770G>T (p.Gly28257Val)
c.84767G>T (p.Gly28256Val)
c.84200G>T (p.Gly28067Val)
c.81542G>T (p.Gly27181Val)
c.81461G>T (p.Gly27154Val)
c.63224G>T (p.Gly21075Val)
c.53078G>T (p.Gly17693Val)
2g.178552571C>GCA349511807TTN,TTN-AS1c.82625G>C (p.Gly27542Ala)
c.63710G>C (p.Gly21237Ala)
c.63509G>C (p.Gly21170Ala)
c.63134G>C (p.Gly21045Ala)
c.90329G>C (p.Gly30110Ala)
c.85406G>C (p.Gly28469Ala)
n.447-18729C>G
n.2043+10210C>G
c.89426G>C (p.Gly29809Ala)
c.63320G>C (p.Gly21107Ala)
c.63179G>C (p.Gly21060Ala)
c.89222G>C (p.Gly29741Ala)
c.84620G>C (p.Gly28207Ala)
c.84617G>C (p.Gly28206Ala)
c.81659G>C (p.Gly27220Ala)
c.63275G>C (p.Gly21092Ala)
c.84770G>C (p.Gly28257Ala)
c.84767G>C (p.Gly28256Ala)
c.84200G>C (p.Gly28067Ala)
c.81542G>C (p.Gly27181Ala)
c.81461G>C (p.Gly27154Ala)
c.63224G>C (p.Gly21075Ala)
c.53078G>C (p.Gly17693Ala)
2g.178552571C>TCA349511769TTN,TTN-AS1c.82625G>A (p.Gly27542Glu)
c.63710G>A (p.Gly21237Glu)
c.63509G>A (p.Gly21170Glu)
c.63134G>A (p.Gly21045Glu)
c.90329G>A (p.Gly30110Glu)
c.85406G>A (p.Gly28469Glu)
n.447-18729C>T
n.2043+10210C>T
c.89426G>A (p.Gly29809Glu)
c.63320G>A (p.Gly21107Glu)
c.63179G>A (p.Gly21060Glu)
c.89222G>A (p.Gly29741Glu)
c.84620G>A (p.Gly28207Glu)
c.84617G>A (p.Gly28206Glu)
c.81659G>A (p.Gly27220Glu)
c.63275G>A (p.Gly21092Glu)
c.84770G>A (p.Gly28257Glu)
c.84767G>A (p.Gly28256Glu)
c.84200G>A (p.Gly28067Glu)
c.81542G>A (p.Gly27181Glu)
c.81461G>A (p.Gly27154Glu)
c.63224G>A (p.Gly21075Glu)
c.53078G>A (p.Gly17693Glu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178552572C>ACA349511812TTN,TTN-AS1c.82624G>T (p.Gly27542Ter)
c.63709G>T (p.Gly21237Ter)
c.63508G>T (p.Gly21170Ter)
c.63133G>T (p.Gly21045Ter)
c.90328G>T (p.Gly30110Ter)
c.85405G>T (p.Gly28469Ter)
n.447-18728C>A
n.2043+10211C>A
c.89425G>T (p.Gly29809Ter)
c.63319G>T (p.Gly21107Ter)
c.63178G>T (p.Gly21060Ter)
c.89221G>T (p.Gly29741Ter)
c.84619G>T (p.Gly28207Ter)
c.84616G>T (p.Gly28206Ter)
c.81658G>T (p.Gly27220Ter)
c.63274G>T (p.Gly21092Ter)
c.84769G>T (p.Gly28257Ter)
c.84766G>T (p.Gly28256Ter)
c.84199G>T (p.Gly28067Ter)
c.81541G>T (p.Gly27181Ter)
c.81460G>T (p.Gly27154Ter)
c.63223G>T (p.Gly21075Ter)
c.53077G>T (p.Gly17693Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.178552572C=CA1310522124TTN,TTN-AS1c.82624G= (p.Gly27542=)
c.63709G= (p.Gly21237=)
c.63508G= (p.Gly21170=)
c.63133G= (p.Gly21045=)
c.90328G= (p.Gly30110=)
c.85405G= (p.Gly28469=)
n.447-18728C=
n.2043+10211C=
c.89425G= (p.Gly29809=)
c.63319G= (p.Gly21107=)
c.63178G= (p.Gly21060=)
c.89221G= (p.Gly29741=)
c.84619G= (p.Gly28207=)
c.84616G= (p.Gly28206=)
c.81658G= (p.Gly27220=)
c.63274G= (p.Gly21092=)
c.84769G= (p.Gly28257=)
c.84766G= (p.Gly28256=)
c.84199G= (p.Gly28067=)
c.81541G= (p.Gly27181=)
c.81460G= (p.Gly27154=)
c.63223G= (p.Gly21075=)
c.53077G= (p.Gly17693=)
2g.178552572C>GCA349511816TTN,TTN-AS1c.82624G>C (p.Gly27542Arg)
c.63709G>C (p.Gly21237Arg)
c.63508G>C (p.Gly21170Arg)
c.63133G>C (p.Gly21045Arg)
c.90328G>C (p.Gly30110Arg)
c.85405G>C (p.Gly28469Arg)
n.447-18728C>G
n.2043+10211C>G
c.89425G>C (p.Gly29809Arg)
c.63319G>C (p.Gly21107Arg)
c.63178G>C (p.Gly21060Arg)
c.89221G>C (p.Gly29741Arg)
c.84619G>C (p.Gly28207Arg)
c.84616G>C (p.Gly28206Arg)
c.81658G>C (p.Gly27220Arg)
c.63274G>C (p.Gly21092Arg)
c.84769G>C (p.Gly28257Arg)
c.84766G>C (p.Gly28256Arg)
c.84199G>C (p.Gly28067Arg)
c.81541G>C (p.Gly27181Arg)
c.81460G>C (p.Gly27154Arg)
c.63223G>C (p.Gly21075Arg)
c.53077G>C (p.Gly17693Arg)
2g.178552572C>TCA349511813TTN,TTN-AS1c.82624G>A (p.Gly27542Arg)
c.63709G>A (p.Gly21237Arg)
c.63508G>A (p.Gly21170Arg)
c.63133G>A (p.Gly21045Arg)
c.90328G>A (p.Gly30110Arg)
c.85405G>A (p.Gly28469Arg)
n.447-18728C>T
n.2043+10211C>T
c.89425G>A (p.Gly29809Arg)
c.63319G>A (p.Gly21107Arg)
c.63178G>A (p.Gly21060Arg)
c.89221G>A (p.Gly29741Arg)
c.84619G>A (p.Gly28207Arg)
c.84616G>A (p.Gly28206Arg)
c.81658G>A (p.Gly27220Arg)
c.63274G>A (p.Gly21092Arg)
c.84769G>A (p.Gly28257Arg)
c.84766G>A (p.Gly28256Arg)
c.84199G>A (p.Gly28067Arg)
c.81541G>A (p.Gly27181Arg)
c.81460G>A (p.Gly27154Arg)
c.63223G>A (p.Gly21075Arg)
c.53077G>A (p.Gly17693Arg)
2g.178552573T>ACA349511820TTN,TTN-AS1c.82623A>T (p.Lys27541Asn)
c.63708A>T (p.Lys21236Asn)
c.63507A>T (p.Lys21169Asn)
c.63132A>T (p.Lys21044Asn)
c.90327A>T (p.Lys30109Asn)
c.85404A>T (p.Lys28468Asn)
n.447-18727T>A
n.2043+10212T>A
c.89424A>T (p.Lys29808Asn)
c.63318A>T (p.Lys21106Asn)
c.63177A>T (p.Lys21059Asn)
c.89220A>T (p.Lys29740Asn)
c.84618A>T (p.Lys28206Asn)
c.84615A>T (p.Lys28205Asn)
c.81657A>T (p.Lys27219Asn)
c.63273A>T (p.Lys21091Asn)
c.84768A>T (p.Lys28256Asn)
c.84765A>T (p.Lys28255Asn)
c.84198A>T (p.Lys28066Asn)
c.81540A>T (p.Lys27180Asn)
c.81459A>T (p.Lys27153Asn)
c.63222A>T (p.Lys21074Asn)
c.53076A>T (p.Lys17692Asn)
2g.178552573T>CCA430245472TTN,TTN-AS1c.82623A>G (p.Lys27541=)
c.63708A>G (p.Lys21236=)
c.63507A>G (p.Lys21169=)
c.63132A>G (p.Lys21044=)
c.90327A>G (p.Lys30109=)
c.85404A>G (p.Lys28468=)
n.447-18727T>C
n.2043+10212T>C
c.89424A>G (p.Lys29808=)
c.63318A>G (p.Lys21106=)
c.63177A>G (p.Lys21059=)
c.89220A>G (p.Lys29740=)
c.84618A>G (p.Lys28206=)
c.84615A>G (p.Lys28205=)
c.81657A>G (p.Lys27219=)
c.63273A>G (p.Lys21091=)
c.84768A>G (p.Lys28256=)
c.84765A>G (p.Lys28255=)
c.84198A>G (p.Lys28066=)
c.81540A>G (p.Lys27180=)
c.81459A>G (p.Lys27153=)
c.63222A>G (p.Lys21074=)
c.53076A>G (p.Lys17692=)
 ClinVar
2g.178552573T>GCA349511826TTN,TTN-AS1c.82623A>C (p.Lys27541Asn)
c.63708A>C (p.Lys21236Asn)
c.63507A>C (p.Lys21169Asn)
c.63132A>C (p.Lys21044Asn)
c.90327A>C (p.Lys30109Asn)
c.85404A>C (p.Lys28468Asn)
n.447-18727T>G
n.2043+10212T>G
c.89424A>C (p.Lys29808Asn)
c.63318A>C (p.Lys21106Asn)
c.63177A>C (p.Lys21059Asn)
c.89220A>C (p.Lys29740Asn)
c.84618A>C (p.Lys28206Asn)
c.84615A>C (p.Lys28205Asn)
c.81657A>C (p.Lys27219Asn)
c.63273A>C (p.Lys21091Asn)
c.84768A>C (p.Lys28256Asn)
c.84765A>C (p.Lys28255Asn)
c.84198A>C (p.Lys28066Asn)
c.81540A>C (p.Lys27180Asn)
c.81459A>C (p.Lys27153Asn)
c.63222A>C (p.Lys21074Asn)
c.53076A>C (p.Lys17692Asn)
2g.178552574T>ACA349511830TTN,TTN-AS1c.82622A>T (p.Lys27541Ile)
c.63707A>T (p.Lys21236Ile)
c.63506A>T (p.Lys21169Ile)
c.63131A>T (p.Lys21044Ile)
c.90326A>T (p.Lys30109Ile)
c.85403A>T (p.Lys28468Ile)
n.447-18726T>A
n.2043+10213T>A
c.89423A>T (p.Lys29808Ile)
c.63317A>T (p.Lys21106Ile)
c.63176A>T (p.Lys21059Ile)
c.89219A>T (p.Lys29740Ile)
c.84617A>T (p.Lys28206Ile)
c.84614A>T (p.Lys28205Ile)
c.81656A>T (p.Lys27219Ile)
c.63272A>T (p.Lys21091Ile)
c.84767A>T (p.Lys28256Ile)
c.84764A>T (p.Lys28255Ile)
c.84197A>T (p.Lys28066Ile)
c.81539A>T (p.Lys27180Ile)
c.81458A>T (p.Lys27153Ile)
c.63221A>T (p.Lys21074Ile)
c.53075A>T (p.Lys17692Ile)
2g.178552574T>CCA349511837TTN,TTN-AS1c.82622A>G (p.Lys27541Arg)
c.63707A>G (p.Lys21236Arg)
c.63506A>G (p.Lys21169Arg)
c.63131A>G (p.Lys21044Arg)
c.90326A>G (p.Lys30109Arg)
c.85403A>G (p.Lys28468Arg)
n.447-18726T>C
n.2043+10213T>C
c.89423A>G (p.Lys29808Arg)
c.63317A>G (p.Lys21106Arg)
c.63176A>G (p.Lys21059Arg)
c.89219A>G (p.Lys29740Arg)
c.84617A>G (p.Lys28206Arg)
c.84614A>G (p.Lys28205Arg)
c.81656A>G (p.Lys27219Arg)
c.63272A>G (p.Lys21091Arg)
c.84767A>G (p.Lys28256Arg)
c.84764A>G (p.Lys28255Arg)
c.84197A>G (p.Lys28066Arg)
c.81539A>G (p.Lys27180Arg)
c.81458A>G (p.Lys27153Arg)
c.63221A>G (p.Lys21074Arg)
c.53075A>G (p.Lys17692Arg)
2g.178552574T>GCA349511835TTN,TTN-AS1c.82622A>C (p.Lys27541Thr)
c.63707A>C (p.Lys21236Thr)
c.63506A>C (p.Lys21169Thr)
c.63131A>C (p.Lys21044Thr)
c.90326A>C (p.Lys30109Thr)
c.85403A>C (p.Lys28468Thr)
n.447-18726T>G
n.2043+10213T>G
c.89423A>C (p.Lys29808Thr)
c.63317A>C (p.Lys21106Thr)
c.63176A>C (p.Lys21059Thr)
c.89219A>C (p.Lys29740Thr)
c.84617A>C (p.Lys28206Thr)
c.84614A>C (p.Lys28205Thr)
c.81656A>C (p.Lys27219Thr)
c.63272A>C (p.Lys21091Thr)
c.84767A>C (p.Lys28256Thr)
c.84764A>C (p.Lys28255Thr)
c.84197A>C (p.Lys28066Thr)
c.81539A>C (p.Lys27180Thr)
c.81458A>C (p.Lys27153Thr)
c.63221A>C (p.Lys21074Thr)
c.53075A>C (p.Lys17692Thr)
 dbSNP
2g.178552574T=CA1310522126TTN,TTN-AS1c.82622A= (p.Lys27541=)
c.63707A= (p.Lys21236=)
c.63506A= (p.Lys21169=)
c.63131A= (p.Lys21044=)
c.90326A= (p.Lys30109=)
c.85403A= (p.Lys28468=)
n.447-18726T=
n.2043+10213T=
c.89423A= (p.Lys29808=)
c.63317A= (p.Lys21106=)
c.63176A= (p.Lys21059=)
c.89219A= (p.Lys29740=)
c.84617A= (p.Lys28206=)
c.84614A= (p.Lys28205=)
c.81656A= (p.Lys27219=)
c.63272A= (p.Lys21091=)
c.84767A= (p.Lys28256=)
c.84764A= (p.Lys28255=)
c.84197A= (p.Lys28066=)
c.81539A= (p.Lys27180=)
c.81458A= (p.Lys27153=)
c.63221A= (p.Lys21074=)
c.53075A= (p.Lys17692=)
2g.178552575T>ACA349511841TTN,TTN-AS1c.82621A>T (p.Lys27541Ter)
c.63706A>T (p.Lys21236Ter)
c.63505A>T (p.Lys21169Ter)
c.63130A>T (p.Lys21044Ter)
c.90325A>T (p.Lys30109Ter)
c.85402A>T (p.Lys28468Ter)
n.447-18725T>A
n.2043+10214T>A
c.89422A>T (p.Lys29808Ter)
c.63316A>T (p.Lys21106Ter)
c.63175A>T (p.Lys21059Ter)
c.89218A>T (p.Lys29740Ter)
c.84616A>T (p.Lys28206Ter)
c.84613A>T (p.Lys28205Ter)
c.81655A>T (p.Lys27219Ter)
c.63271A>T (p.Lys21091Ter)
c.84766A>T (p.Lys28256Ter)
c.84763A>T (p.Lys28255Ter)
c.84196A>T (p.Lys28066Ter)
c.81538A>T (p.Lys27180Ter)
c.81457A>T (p.Lys27153Ter)
c.63220A>T (p.Lys21074Ter)
c.53074A>T (p.Lys17692Ter)
2g.178552575T>CCA349511844TTN,TTN-AS1c.82621A>G (p.Lys27541Glu)
c.63706A>G (p.Lys21236Glu)
c.63505A>G (p.Lys21169Glu)
c.63130A>G (p.Lys21044Glu)
c.90325A>G (p.Lys30109Glu)
c.85402A>G (p.Lys28468Glu)
n.447-18725T>C
n.2043+10214T>C
c.89422A>G (p.Lys29808Glu)
c.63316A>G (p.Lys21106Glu)
c.63175A>G (p.Lys21059Glu)
c.89218A>G (p.Lys29740Glu)
c.84616A>G (p.Lys28206Glu)
c.84613A>G (p.Lys28205Glu)
c.81655A>G (p.Lys27219Glu)
c.63271A>G (p.Lys21091Glu)
c.84766A>G (p.Lys28256Glu)
c.84763A>G (p.Lys28255Glu)
c.84196A>G (p.Lys28066Glu)
c.81538A>G (p.Lys27180Glu)
c.81457A>G (p.Lys27153Glu)
c.63220A>G (p.Lys21074Glu)
c.53074A>G (p.Lys17692Glu)
2g.178552575T>GCA349511848TTN,TTN-AS1c.82621A>C (p.Lys27541Gln)
c.63706A>C (p.Lys21236Gln)
c.63505A>C (p.Lys21169Gln)
c.63130A>C (p.Lys21044Gln)
c.90325A>C (p.Lys30109Gln)
c.85402A>C (p.Lys28468Gln)
n.447-18725T>G
n.2043+10214T>G
c.89422A>C (p.Lys29808Gln)
c.63316A>C (p.Lys21106Gln)
c.63175A>C (p.Lys21059Gln)
c.89218A>C (p.Lys29740Gln)
c.84616A>C (p.Lys28206Gln)
c.84613A>C (p.Lys28205Gln)
c.81655A>C (p.Lys27219Gln)
c.63271A>C (p.Lys21091Gln)
c.84766A>C (p.Lys28256Gln)
c.84763A>C (p.Lys28255Gln)
c.84196A>C (p.Lys28066Gln)
c.81538A>C (p.Lys27180Gln)
c.81457A>C (p.Lys27153Gln)
c.63220A>C (p.Lys21074Gln)
c.53074A>C (p.Lys17692Gln)
2g.178552576C>ACA349511863TTN,TTN-AS1c.82620G>T (p.Glu27540Asp)
c.63705G>T (p.Glu21235Asp)
c.63504G>T (p.Glu21168Asp)
c.63129G>T (p.Glu21043Asp)
c.90324G>T (p.Glu30108Asp)
c.85401G>T (p.Glu28467Asp)
n.447-18724C>A
n.2043+10215C>A
c.89421G>T (p.Glu29807Asp)
c.63315G>T (p.Glu21105Asp)
c.63174G>T (p.Glu21058Asp)
c.89217G>T (p.Glu29739Asp)
c.84615G>T (p.Glu28205Asp)
c.84612G>T (p.Glu28204Asp)
c.81654G>T (p.Glu27218Asp)
c.63270G>T (p.Glu21090Asp)
c.84765G>T (p.Glu28255Asp)
c.84762G>T (p.Glu28254Asp)
c.84195G>T (p.Glu28065Asp)
c.81537G>T (p.Glu27179Asp)
c.81456G>T (p.Glu27152Asp)
c.63219G>T (p.Glu21073Asp)
c.53073G>T (p.Glu17691Asp)
2g.178552576C>GCA349511865TTN,TTN-AS1c.82620G>C (p.Glu27540Asp)
c.63705G>C (p.Glu21235Asp)
c.63504G>C (p.Glu21168Asp)
c.63129G>C (p.Glu21043Asp)
c.90324G>C (p.Glu30108Asp)
c.85401G>C (p.Glu28467Asp)
n.447-18724C>G
n.2043+10215C>G
c.89421G>C (p.Glu29807Asp)
c.63315G>C (p.Glu21105Asp)
c.63174G>C (p.Glu21058Asp)
c.89217G>C (p.Glu29739Asp)
c.84615G>C (p.Glu28205Asp)
c.84612G>C (p.Glu28204Asp)
c.81654G>C (p.Glu27218Asp)
c.63270G>C (p.Glu21090Asp)
c.84765G>C (p.Glu28255Asp)
c.84762G>C (p.Glu28254Asp)
c.84195G>C (p.Glu28065Asp)
c.81537G>C (p.Glu27179Asp)
c.81456G>C (p.Glu27152Asp)
c.63219G>C (p.Glu21073Asp)
c.53073G>C (p.Glu17691Asp)
2g.178552576C>TCA430245474TTN,TTN-AS1c.82620G>A (p.Glu27540=)
c.63705G>A (p.Glu21235=)
c.63504G>A (p.Glu21168=)
c.63129G>A (p.Glu21043=)
c.90324G>A (p.Glu30108=)
c.85401G>A (p.Glu28467=)
n.447-18724C>T
n.2043+10215C>T
c.89421G>A (p.Glu29807=)
c.63315G>A (p.Glu21105=)
c.63174G>A (p.Glu21058=)
c.89217G>A (p.Glu29739=)
c.84615G>A (p.Glu28205=)
c.84612G>A (p.Glu28204=)
c.81654G>A (p.Glu27218=)
c.63270G>A (p.Glu21090=)
c.84765G>A (p.Glu28255=)
c.84762G>A (p.Glu28254=)
c.84195G>A (p.Glu28065=)
c.81537G>A (p.Glu27179=)
c.81456G>A (p.Glu27152=)
c.63219G>A (p.Glu21073=)
c.53073G>A (p.Glu17691=)
2g.178552577T>ACA349511869TTN,TTN-AS1c.82619A>T (p.Glu27540Val)
c.63704A>T (p.Glu21235Val)
c.63503A>T (p.Glu21168Val)
c.63128A>T (p.Glu21043Val)
c.90323A>T (p.Glu30108Val)
c.85400A>T (p.Glu28467Val)
n.447-18723T>A
n.2043+10216T>A
c.89420A>T (p.Glu29807Val)
c.63314A>T (p.Glu21105Val)
c.63173A>T (p.Glu21058Val)
c.89216A>T (p.Glu29739Val)
c.84614A>T (p.Glu28205Val)
c.84611A>T (p.Glu28204Val)
c.81653A>T (p.Glu27218Val)
c.63269A>T (p.Glu21090Val)
c.84764A>T (p.Glu28255Val)
c.84761A>T (p.Glu28254Val)
c.84194A>T (p.Glu28065Val)
c.81536A>T (p.Glu27179Val)
c.81455A>T (p.Glu27152Val)
c.63218A>T (p.Glu21073Val)
c.53072A>T (p.Glu17691Val)
2g.178552577T>CCA349511870TTN,TTN-AS1c.82619A>G (p.Glu27540Gly)
c.63704A>G (p.Glu21235Gly)
c.63503A>G (p.Glu21168Gly)
c.63128A>G (p.Glu21043Gly)
c.90323A>G (p.Glu30108Gly)
c.85400A>G (p.Glu28467Gly)
n.447-18723T>C
n.2043+10216T>C
c.89420A>G (p.Glu29807Gly)
c.63314A>G (p.Glu21105Gly)
c.63173A>G (p.Glu21058Gly)
c.89216A>G (p.Glu29739Gly)
c.84614A>G (p.Glu28205Gly)
c.84611A>G (p.Glu28204Gly)
c.81653A>G (p.Glu27218Gly)
c.63269A>G (p.Glu21090Gly)
c.84764A>G (p.Glu28255Gly)
c.84761A>G (p.Glu28254Gly)
c.84194A>G (p.Glu28065Gly)
c.81536A>G (p.Glu27179Gly)
c.81455A>G (p.Glu27152Gly)
c.63218A>G (p.Glu21073Gly)
c.53072A>G (p.Glu17691Gly)
2g.178552577T>GCA349511874TTN,TTN-AS1c.82619A>C (p.Glu27540Ala)
c.63704A>C (p.Glu21235Ala)
c.63503A>C (p.Glu21168Ala)
c.63128A>C (p.Glu21043Ala)
c.90323A>C (p.Glu30108Ala)
c.85400A>C (p.Glu28467Ala)
n.447-18723T>G
n.2043+10216T>G
c.89420A>C (p.Glu29807Ala)
c.63314A>C (p.Glu21105Ala)
c.63173A>C (p.Glu21058Ala)
c.89216A>C (p.Glu29739Ala)
c.84614A>C (p.Glu28205Ala)
c.84611A>C (p.Glu28204Ala)
c.81653A>C (p.Glu27218Ala)
c.63269A>C (p.Glu21090Ala)
c.84764A>C (p.Glu28255Ala)
c.84761A>C (p.Glu28254Ala)
c.84194A>C (p.Glu28065Ala)
c.81536A>C (p.Glu27179Ala)
c.81455A>C (p.Glu27152Ala)
c.63218A>C (p.Glu21073Ala)
c.53072A>C (p.Glu17691Ala)
2g.178552577T=CA1310522128TTN,TTN-AS1c.82619A= (p.Glu27540=)
c.63704A= (p.Glu21235=)
c.63503A= (p.Glu21168=)
c.63128A= (p.Glu21043=)
c.90323A= (p.Glu30108=)
c.85400A= (p.Glu28467=)
n.447-18723T=
n.2043+10216T=
c.89420A= (p.Glu29807=)
c.63314A= (p.Glu21105=)
c.63173A= (p.Glu21058=)
c.89216A= (p.Glu29739=)
c.84614A= (p.Glu28205=)
c.84611A= (p.Glu28204=)
c.81653A= (p.Glu27218=)
c.63269A= (p.Glu21090=)
c.84764A= (p.Glu28255=)
c.84761A= (p.Glu28254=)
c.84194A= (p.Glu28065=)
c.81536A= (p.Glu27179=)
c.81455A= (p.Glu27152=)
c.63218A= (p.Glu21073=)
c.53072A= (p.Glu17691=)
2g.178552577_178552578insACA353211TTN,TTN-AS1c.82618_82619insT (p.Glu27540ValfsTer6)
c.63703_63704insT (p.Glu21235ValfsTer6)
c.63502_63503insT (p.Glu21168ValfsTer6)
c.63127_63128insT (p.Glu21043ValfsTer6)
c.90322_90323insT (p.Glu30108ValfsTer6)
c.85399_85400insT (p.Glu28467ValfsTer6)
n.447-18723_447-18722insA
n.2043+10216_2043+10217insA
c.89419_89420insT (p.Glu29807ValfsTer6)
c.63313_63314insT (p.Glu21105ValfsTer6)
c.63172_63173insT (p.Glu21058ValfsTer6)
c.89215_89216insT (p.Glu29739ValfsTer6)
c.84613_84614insT (p.Glu28205ValfsTer6)
c.84610_84611insT (p.Glu28204ValfsTer6)
c.81652_81653insT (p.Glu27218ValfsTer6)
c.63268_63269insT (p.Glu21090ValfsTer6)
c.84763_84764insT (p.Glu28255ValfsTer6)
c.84760_84761insT (p.Glu28254ValfsTer6)
c.84193_84194insT (p.Glu28065ValfsTer6)
c.81535_81536insT (p.Glu27179ValfsTer6)
c.81454_81455insT (p.Glu27152ValfsTer6)
c.63217_63218insT (p.Glu21073ValfsTer6)
c.53071_53072insT (p.Glu17691ValfsTer6)
 ClinVar dbSNP
2g.178552578C>ACA349511891TTN,TTN-AS1c.82618G>T (p.Glu27540Ter)
c.63703G>T (p.Glu21235Ter)
c.63502G>T (p.Glu21168Ter)
c.63127G>T (p.Glu21043Ter)
c.90322G>T (p.Glu30108Ter)
c.85399G>T (p.Glu28467Ter)
n.447-18722C>A
n.2043+10217C>A
c.89419G>T (p.Glu29807Ter)
c.63313G>T (p.Glu21105Ter)
c.63172G>T (p.Glu21058Ter)
c.89215G>T (p.Glu29739Ter)
c.84613G>T (p.Glu28205Ter)
c.84610G>T (p.Glu28204Ter)
c.81652G>T (p.Glu27218Ter)
c.63268G>T (p.Glu21090Ter)
c.84763G>T (p.Glu28255Ter)
c.84760G>T (p.Glu28254Ter)
c.84193G>T (p.Glu28065Ter)
c.81535G>T (p.Glu27179Ter)
c.81454G>T (p.Glu27152Ter)
c.63217G>T (p.Glu21073Ter)
c.53071G>T (p.Glu17691Ter)
2g.178552578C>GCA349511895TTN,TTN-AS1c.82618G>C (p.Glu27540Gln)
c.63703G>C (p.Glu21235Gln)
c.63502G>C (p.Glu21168Gln)
c.63127G>C (p.Glu21043Gln)
c.90322G>C (p.Glu30108Gln)
c.85399G>C (p.Glu28467Gln)
n.447-18722C>G
n.2043+10217C>G
c.89419G>C (p.Glu29807Gln)
c.63313G>C (p.Glu21105Gln)
c.63172G>C (p.Glu21058Gln)
c.89215G>C (p.Glu29739Gln)
c.84613G>C (p.Glu28205Gln)
c.84610G>C (p.Glu28204Gln)
c.81652G>C (p.Glu27218Gln)
c.63268G>C (p.Glu21090Gln)
c.84763G>C (p.Glu28255Gln)
c.84760G>C (p.Glu28254Gln)
c.84193G>C (p.Glu28065Gln)
c.81535G>C (p.Glu27179Gln)
c.81454G>C (p.Glu27152Gln)
c.63217G>C (p.Glu21073Gln)
c.53071G>C (p.Glu17691Gln)
2g.178552578C>TCA349511896TTN,TTN-AS1c.82618G>A (p.Glu27540Lys)
c.63703G>A (p.Glu21235Lys)
c.63502G>A (p.Glu21168Lys)
c.63127G>A (p.Glu21043Lys)
c.90322G>A (p.Glu30108Lys)
c.85399G>A (p.Glu28467Lys)
n.447-18722C>T
n.2043+10217C>T
c.89419G>A (p.Glu29807Lys)
c.63313G>A (p.Glu21105Lys)
c.63172G>A (p.Glu21058Lys)
c.89215G>A (p.Glu29739Lys)
c.84613G>A (p.Glu28205Lys)
c.84610G>A (p.Glu28204Lys)
c.81652G>A (p.Glu27218Lys)
c.63268G>A (p.Glu21090Lys)
c.84763G>A (p.Glu28255Lys)
c.84760G>A (p.Glu28254Lys)
c.84193G>A (p.Glu28065Lys)
c.81535G>A (p.Glu27179Lys)
c.81454G>A (p.Glu27152Lys)
c.63217G>A (p.Glu21073Lys)
c.53071G>A (p.Glu17691Lys)
2g.178552579A>CCA349511898TTN,TTN-AS1c.82617T>G (p.Asn27539Lys)
c.63702T>G (p.Asn21234Lys)
c.63501T>G (p.Asn21167Lys)
c.63126T>G (p.Asn21042Lys)
c.90321T>G (p.Asn30107Lys)
c.85398T>G (p.Asn28466Lys)
n.447-18721A>C
n.2043+10218A>C
c.89418T>G (p.Asn29806Lys)
c.63312T>G (p.Asn21104Lys)
c.63171T>G (p.Asn21057Lys)
c.89214T>G (p.Asn29738Lys)
c.84612T>G (p.Asn28204Lys)
c.84609T>G (p.Asn28203Lys)
c.81651T>G (p.Asn27217Lys)
c.63267T>G (p.Asn21089Lys)
c.84762T>G (p.Asn28254Lys)
c.84759T>G (p.Asn28253Lys)
c.84192T>G (p.Asn28064Lys)
c.81534T>G (p.Asn27178Lys)
c.81453T>G (p.Asn27151Lys)
c.63216T>G (p.Asn21072Lys)
c.53070T>G (p.Asn17690Lys)
2g.178552579A>GCA430245478TTN,TTN-AS1c.82617T>C (p.Asn27539=)
c.63702T>C (p.Asn21234=)
c.63501T>C (p.Asn21167=)
c.63126T>C (p.Asn21042=)
c.90321T>C (p.Asn30107=)
c.85398T>C (p.Asn28466=)
n.447-18721A>G
n.2043+10218A>G
c.89418T>C (p.Asn29806=)
c.63312T>C (p.Asn21104=)
c.63171T>C (p.Asn21057=)
c.89214T>C (p.Asn29738=)
c.84612T>C (p.Asn28204=)
c.84609T>C (p.Asn28203=)
c.81651T>C (p.Asn27217=)
c.63267T>C (p.Asn21089=)
c.84762T>C (p.Asn28254=)
c.84759T>C (p.Asn28253=)
c.84192T>C (p.Asn28064=)
c.81534T>C (p.Asn27178=)
c.81453T>C (p.Asn27151=)
c.63216T>C (p.Asn21072=)
c.53070T>C (p.Asn17690=)
 dbSNP gnomAD v4
2g.178552579A>TCA349511897TTN,TTN-AS1c.82617T>A (p.Asn27539Lys)
c.63702T>A (p.Asn21234Lys)
c.63501T>A (p.Asn21167Lys)
c.63126T>A (p.Asn21042Lys)
c.90321T>A (p.Asn30107Lys)
c.85398T>A (p.Asn28466Lys)
n.447-18721A>T
n.2043+10218A>T
c.89418T>A (p.Asn29806Lys)
c.63312T>A (p.Asn21104Lys)
c.63171T>A (p.Asn21057Lys)
c.89214T>A (p.Asn29738Lys)
c.84612T>A (p.Asn28204Lys)
c.84609T>A (p.Asn28203Lys)
c.81651T>A (p.Asn27217Lys)
c.63267T>A (p.Asn21089Lys)
c.84762T>A (p.Asn28254Lys)
c.84759T>A (p.Asn28253Lys)
c.84192T>A (p.Asn28064Lys)
c.81534T>A (p.Asn27178Lys)
c.81453T>A (p.Asn27151Lys)
c.63216T>A (p.Asn21072Lys)
c.53070T>A (p.Asn17690Lys)
2g.178552579dupCA2586970726TTN,TTN-AS1c.82617dup (p.Glu27540Ter)
c.63702dup (p.Glu21235Ter)
c.63501dup (p.Glu21168Ter)
c.63126dup (p.Glu21043Ter)
c.90321dup (p.Glu30108Ter)
c.85398dup (p.Glu28467Ter)
n.447-18721dup
n.2043+10218dup
c.89418dup (p.Glu29807Ter)
c.63312dup (p.Glu21105Ter)
c.63171dup (p.Glu21058Ter)
c.89214dup (p.Glu29739Ter)
c.84612dup (p.Glu28205Ter)
c.84609dup (p.Glu28204Ter)
c.81651dup (p.Glu27218Ter)
c.63267dup (p.Glu21090Ter)
c.84762dup (p.Glu28255Ter)
c.84759dup (p.Glu28254Ter)
c.84192dup (p.Glu28065Ter)
c.81534dup (p.Glu27179Ter)
c.81453dup (p.Glu27152Ter)
c.63216dup (p.Glu21073Ter)
c.53070dup (p.Glu17691Ter)
2g.178552580T>ACA349511899TTN,TTN-AS1c.82616A>T (p.Asn27539Ile)
c.63701A>T (p.Asn21234Ile)
c.63500A>T (p.Asn21167Ile)
c.63125A>T (p.Asn21042Ile)
c.90320A>T (p.Asn30107Ile)
c.85397A>T (p.Asn28466Ile)
n.447-18720T>A
n.2043+10219T>A
c.89417A>T (p.Asn29806Ile)
c.63311A>T (p.Asn21104Ile)
c.63170A>T (p.Asn21057Ile)
c.89213A>T (p.Asn29738Ile)
c.84611A>T (p.Asn28204Ile)
c.84608A>T (p.Asn28203Ile)
c.81650A>T (p.Asn27217Ile)
c.63266A>T (p.Asn21089Ile)
c.84761A>T (p.Asn28254Ile)
c.84758A>T (p.Asn28253Ile)
c.84191A>T (p.Asn28064Ile)
c.81533A>T (p.Asn27178Ile)
c.81452A>T (p.Asn27151Ile)
c.63215A>T (p.Asn21072Ile)
c.53069A>T (p.Asn17690Ile)
2g.178552580T>CCA349511900TTN,TTN-AS1c.82616A>G (p.Asn27539Ser)
c.63701A>G (p.Asn21234Ser)
c.63500A>G (p.Asn21167Ser)
c.63125A>G (p.Asn21042Ser)
c.90320A>G (p.Asn30107Ser)
c.85397A>G (p.Asn28466Ser)
n.447-18720T>C
n.2043+10219T>C
c.89417A>G (p.Asn29806Ser)
c.63311A>G (p.Asn21104Ser)
c.63170A>G (p.Asn21057Ser)
c.89213A>G (p.Asn29738Ser)
c.84611A>G (p.Asn28204Ser)
c.84608A>G (p.Asn28203Ser)
c.81650A>G (p.Asn27217Ser)
c.63266A>G (p.Asn21089Ser)
c.84761A>G (p.Asn28254Ser)
c.84758A>G (p.Asn28253Ser)
c.84191A>G (p.Asn28064Ser)
c.81533A>G (p.Asn27178Ser)
c.81452A>G (p.Asn27151Ser)
c.63215A>G (p.Asn21072Ser)
c.53069A>G (p.Asn17690Ser)
 dbSNP
2g.178552580T>GCA349511901TTN,TTN-AS1c.82616A>C (p.Asn27539Thr)
c.63701A>C (p.Asn21234Thr)
c.63500A>C (p.Asn21167Thr)
c.63125A>C (p.Asn21042Thr)
c.90320A>C (p.Asn30107Thr)
c.85397A>C (p.Asn28466Thr)
n.447-18720T>G
n.2043+10219T>G
c.89417A>C (p.Asn29806Thr)
c.63311A>C (p.Asn21104Thr)
c.63170A>C (p.Asn21057Thr)
c.89213A>C (p.Asn29738Thr)
c.84611A>C (p.Asn28204Thr)
c.84608A>C (p.Asn28203Thr)
c.81650A>C (p.Asn27217Thr)
c.63266A>C (p.Asn21089Thr)
c.84761A>C (p.Asn28254Thr)
c.84758A>C (p.Asn28253Thr)
c.84191A>C (p.Asn28064Thr)
c.81533A>C (p.Asn27178Thr)
c.81452A>C (p.Asn27151Thr)
c.63215A>C (p.Asn21072Thr)
c.53069A>C (p.Asn17690Thr)
2g.178552580T=CA1310522130TTN,TTN-AS1c.82616A= (p.Asn27539=)
c.63701A= (p.Asn21234=)
c.63500A= (p.Asn21167=)
c.63125A= (p.Asn21042=)
c.90320A= (p.Asn30107=)
c.85397A= (p.Asn28466=)
n.447-18720T=
n.2043+10219T=
c.89417A= (p.Asn29806=)
c.63311A= (p.Asn21104=)
c.63170A= (p.Asn21057=)
c.89213A= (p.Asn29738=)
c.84611A= (p.Asn28204=)
c.84608A= (p.Asn28203=)
c.81650A= (p.Asn27217=)
c.63266A= (p.Asn21089=)
c.84761A= (p.Asn28254=)
c.84758A= (p.Asn28253=)
c.84191A= (p.Asn28064=)
c.81533A= (p.Asn27178=)
c.81452A= (p.Asn27151=)
c.63215A= (p.Asn21072=)
c.53069A= (p.Asn17690=)
2g.178552581T>ACA349511902TTN,TTN-AS1c.82615A>T (p.Asn27539Tyr)
c.63700A>T (p.Asn21234Tyr)
c.63499A>T (p.Asn21167Tyr)
c.63124A>T (p.Asn21042Tyr)
c.90319A>T (p.Asn30107Tyr)
c.85396A>T (p.Asn28466Tyr)
n.447-18719T>A
n.2043+10220T>A
c.89416A>T (p.Asn29806Tyr)
c.63310A>T (p.Asn21104Tyr)
c.63169A>T (p.Asn21057Tyr)
c.89212A>T (p.Asn29738Tyr)
c.84610A>T (p.Asn28204Tyr)
c.84607A>T (p.Asn28203Tyr)
c.81649A>T (p.Asn27217Tyr)
c.63265A>T (p.Asn21089Tyr)
c.84760A>T (p.Asn28254Tyr)
c.84757A>T (p.Asn28253Tyr)
c.84190A>T (p.Asn28064Tyr)
c.81532A>T (p.Asn27178Tyr)
c.81451A>T (p.Asn27151Tyr)
c.63214A>T (p.Asn21072Tyr)
c.53068A>T (p.Asn17690Tyr)
2g.178552581T>CCA349511903TTN,TTN-AS1c.82615A>G (p.Asn27539Asp)
c.63700A>G (p.Asn21234Asp)
c.63499A>G (p.Asn21167Asp)
c.63124A>G (p.Asn21042Asp)
c.90319A>G (p.Asn30107Asp)
c.85396A>G (p.Asn28466Asp)
n.447-18719T>C
n.2043+10220T>C
c.89416A>G (p.Asn29806Asp)
c.63310A>G (p.Asn21104Asp)
c.63169A>G (p.Asn21057Asp)
c.89212A>G (p.Asn29738Asp)
c.84610A>G (p.Asn28204Asp)
c.84607A>G (p.Asn28203Asp)
c.81649A>G (p.Asn27217Asp)
c.63265A>G (p.Asn21089Asp)
c.84760A>G (p.Asn28254Asp)
c.84757A>G (p.Asn28253Asp)
c.84190A>G (p.Asn28064Asp)
c.81532A>G (p.Asn27178Asp)
c.81451A>G (p.Asn27151Asp)
c.63214A>G (p.Asn21072Asp)
c.53068A>G (p.Asn17690Asp)
2g.178552581T>GCA349511904TTN,TTN-AS1c.82615A>C (p.Asn27539His)
c.63700A>C (p.Asn21234His)
c.63499A>C (p.Asn21167His)
c.63124A>C (p.Asn21042His)
c.90319A>C (p.Asn30107His)
c.85396A>C (p.Asn28466His)
n.447-18719T>G
n.2043+10220T>G
c.89416A>C (p.Asn29806His)
c.63310A>C (p.Asn21104His)
c.63169A>C (p.Asn21057His)
c.89212A>C (p.Asn29738His)
c.84610A>C (p.Asn28204His)
c.84607A>C (p.Asn28203His)
c.81649A>C (p.Asn27217His)
c.63265A>C (p.Asn21089His)
c.84760A>C (p.Asn28254His)
c.84757A>C (p.Asn28253His)
c.84190A>C (p.Asn28064His)
c.81532A>C (p.Asn27178His)
c.81451A>C (p.Asn27151His)
c.63214A>C (p.Asn21072His)
c.53068A>C (p.Asn17690His)

Number of alleles fetched