Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178568835T>ACA349611381TTN,TTN-AS1c.69593A>T (p.Glu23198Val)
c.50678A>T (p.Glu16893Val)
c.50477A>T (p.Glu16826Val)
c.50102A>T (p.Glu16701Val)
c.77297A>T (p.Glu25766Val)
c.72374A>T (p.Glu24125Val)
n.447-2465T>A
n.2044-13737T>A
c.76394A>T (p.Glu25465Val)
c.50288A>T (p.Glu16763Val)
c.50147A>T (p.Glu16716Val)
c.76190A>T (p.Glu25397Val)
c.71588A>T (p.Glu23863Val)
c.71585A>T (p.Glu23862Val)
c.68627A>T (p.Glu22876Val)
c.50243A>T (p.Glu16748Val)
c.71738A>T (p.Glu23913Val)
c.71735A>T (p.Glu23912Val)
c.71168A>T (p.Glu23723Val)
c.68510A>T (p.Glu22837Val)
c.68429A>T (p.Glu22810Val)
c.50192A>T (p.Glu16731Val)
c.40046A>T (p.Glu13349Val)
2g.178568835T>CCA349611379TTN,TTN-AS1c.69593A>G (p.Glu23198Gly)
c.50678A>G (p.Glu16893Gly)
c.50477A>G (p.Glu16826Gly)
c.50102A>G (p.Glu16701Gly)
c.77297A>G (p.Glu25766Gly)
c.72374A>G (p.Glu24125Gly)
n.447-2465T>C
n.2044-13737T>C
c.76394A>G (p.Glu25465Gly)
c.50288A>G (p.Glu16763Gly)
c.50147A>G (p.Glu16716Gly)
c.76190A>G (p.Glu25397Gly)
c.71588A>G (p.Glu23863Gly)
c.71585A>G (p.Glu23862Gly)
c.68627A>G (p.Glu22876Gly)
c.50243A>G (p.Glu16748Gly)
c.71738A>G (p.Glu23913Gly)
c.71735A>G (p.Glu23912Gly)
c.71168A>G (p.Glu23723Gly)
c.68510A>G (p.Glu22837Gly)
c.68429A>G (p.Glu22810Gly)
c.50192A>G (p.Glu16731Gly)
c.40046A>G (p.Glu13349Gly)
2g.178568835T>GCA349611376TTN,TTN-AS1c.69593A>C (p.Glu23198Ala)
c.50678A>C (p.Glu16893Ala)
c.50477A>C (p.Glu16826Ala)
c.50102A>C (p.Glu16701Ala)
c.77297A>C (p.Glu25766Ala)
c.72374A>C (p.Glu24125Ala)
n.447-2465T>G
n.2044-13737T>G
c.76394A>C (p.Glu25465Ala)
c.50288A>C (p.Glu16763Ala)
c.50147A>C (p.Glu16716Ala)
c.76190A>C (p.Glu25397Ala)
c.71588A>C (p.Glu23863Ala)
c.71585A>C (p.Glu23862Ala)
c.68627A>C (p.Glu22876Ala)
c.50243A>C (p.Glu16748Ala)
c.71738A>C (p.Glu23913Ala)
c.71735A>C (p.Glu23912Ala)
c.71168A>C (p.Glu23723Ala)
c.68510A>C (p.Glu22837Ala)
c.68429A>C (p.Glu22810Ala)
c.50192A>C (p.Glu16731Ala)
c.40046A>C (p.Glu13349Ala)
2g.178568836C>ACA349611385TTN,TTN-AS1c.69592G>T (p.Glu23198Ter)
c.50677G>T (p.Glu16893Ter)
c.50476G>T (p.Glu16826Ter)
c.50101G>T (p.Glu16701Ter)
c.77296G>T (p.Glu25766Ter)
c.72373G>T (p.Glu24125Ter)
n.447-2464C>A
n.2044-13736C>A
c.76393G>T (p.Glu25465Ter)
c.50287G>T (p.Glu16763Ter)
c.50146G>T (p.Glu16716Ter)
c.76189G>T (p.Glu25397Ter)
c.71587G>T (p.Glu23863Ter)
c.71584G>T (p.Glu23862Ter)
c.68626G>T (p.Glu22876Ter)
c.50242G>T (p.Glu16748Ter)
c.71737G>T (p.Glu23913Ter)
c.71734G>T (p.Glu23912Ter)
c.71167G>T (p.Glu23723Ter)
c.68509G>T (p.Glu22837Ter)
c.68428G>T (p.Glu22810Ter)
c.50191G>T (p.Glu16731Ter)
c.40045G>T (p.Glu13349Ter)
2g.178568836C=CA1310530740TTN,TTN-AS1c.69592G= (p.Glu23198=)
c.50677G= (p.Glu16893=)
c.50476G= (p.Glu16826=)
c.50101G= (p.Glu16701=)
c.77296G= (p.Glu25766=)
c.72373G= (p.Glu24125=)
n.447-2464C=
n.2044-13736C=
c.76393G= (p.Glu25465=)
c.50287G= (p.Glu16763=)
c.50146G= (p.Glu16716=)
c.76189G= (p.Glu25397=)
c.71587G= (p.Glu23863=)
c.71584G= (p.Glu23862=)
c.68626G= (p.Glu22876=)
c.50242G= (p.Glu16748=)
c.71737G= (p.Glu23913=)
c.71734G= (p.Glu23912=)
c.71167G= (p.Glu23723=)
c.68509G= (p.Glu22837=)
c.68428G= (p.Glu22810=)
c.50191G= (p.Glu16731=)
c.40045G= (p.Glu13349=)
2g.178568836C>GCA349611387TTN,TTN-AS1c.69592G>C (p.Glu23198Gln)
c.50677G>C (p.Glu16893Gln)
c.50476G>C (p.Glu16826Gln)
c.50101G>C (p.Glu16701Gln)
c.77296G>C (p.Glu25766Gln)
c.72373G>C (p.Glu24125Gln)
n.447-2464C>G
n.2044-13736C>G
c.76393G>C (p.Glu25465Gln)
c.50287G>C (p.Glu16763Gln)
c.50146G>C (p.Glu16716Gln)
c.76189G>C (p.Glu25397Gln)
c.71587G>C (p.Glu23863Gln)
c.71584G>C (p.Glu23862Gln)
c.68626G>C (p.Glu22876Gln)
c.50242G>C (p.Glu16748Gln)
c.71737G>C (p.Glu23913Gln)
c.71734G>C (p.Glu23912Gln)
c.71167G>C (p.Glu23723Gln)
c.68509G>C (p.Glu22837Gln)
c.68428G>C (p.Glu22810Gln)
c.50191G>C (p.Glu16731Gln)
c.40045G>C (p.Glu13349Gln)
2g.178568836C>TCA349611389TTN,TTN-AS1c.69592G>A (p.Glu23198Lys)
c.50677G>A (p.Glu16893Lys)
c.50476G>A (p.Glu16826Lys)
c.50101G>A (p.Glu16701Lys)
c.77296G>A (p.Glu25766Lys)
c.72373G>A (p.Glu24125Lys)
n.447-2464C>T
n.2044-13736C>T
c.76393G>A (p.Glu25465Lys)
c.50287G>A (p.Glu16763Lys)
c.50146G>A (p.Glu16716Lys)
c.76189G>A (p.Glu25397Lys)
c.71587G>A (p.Glu23863Lys)
c.71584G>A (p.Glu23862Lys)
c.68626G>A (p.Glu22876Lys)
c.50242G>A (p.Glu16748Lys)
c.71737G>A (p.Glu23913Lys)
c.71734G>A (p.Glu23912Lys)
c.71167G>A (p.Glu23723Lys)
c.68509G>A (p.Glu22837Lys)
c.68428G>A (p.Glu22810Lys)
c.50191G>A (p.Glu16731Lys)
c.40045G>A (p.Glu13349Lys)
 dbSNP
2g.178568837T>ACA349611392TTN,TTN-AS1c.69591A>T (p.Glu23197Asp)
c.50676A>T (p.Glu16892Asp)
c.50475A>T (p.Glu16825Asp)
c.50100A>T (p.Glu16700Asp)
c.77295A>T (p.Glu25765Asp)
c.72372A>T (p.Glu24124Asp)
n.447-2463T>A
n.2044-13735T>A
c.76392A>T (p.Glu25464Asp)
c.50286A>T (p.Glu16762Asp)
c.50145A>T (p.Glu16715Asp)
c.76188A>T (p.Glu25396Asp)
c.71586A>T (p.Glu23862Asp)
c.71583A>T (p.Glu23861Asp)
c.68625A>T (p.Glu22875Asp)
c.50241A>T (p.Glu16747Asp)
c.71736A>T (p.Glu23912Asp)
c.71733A>T (p.Glu23911Asp)
c.71166A>T (p.Glu23722Asp)
c.68508A>T (p.Glu22836Asp)
c.68427A>T (p.Glu22809Asp)
c.50190A>T (p.Glu16730Asp)
c.40044A>T (p.Glu13348Asp)
2g.178568837T>CCA60993082TTN,TTN-AS1c.69591A>G (p.Glu23197=)
c.50676A>G (p.Glu16892=)
c.50475A>G (p.Glu16825=)
c.50100A>G (p.Glu16700=)
c.77295A>G (p.Glu25765=)
c.72372A>G (p.Glu24124=)
n.447-2463T>C
n.2044-13735T>C
c.76392A>G (p.Glu25464=)
c.50286A>G (p.Glu16762=)
c.50145A>G (p.Glu16715=)
c.76188A>G (p.Glu25396=)
c.71586A>G (p.Glu23862=)
c.71583A>G (p.Glu23861=)
c.68625A>G (p.Glu22875=)
c.50241A>G (p.Glu16747=)
c.71736A>G (p.Glu23912=)
c.71733A>G (p.Glu23911=)
c.71166A>G (p.Glu23722=)
c.68508A>G (p.Glu22836=)
c.68427A>G (p.Glu22809=)
c.50190A>G (p.Glu16730=)
c.40044A>G (p.Glu13348=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178568837T>GCA349611397TTN,TTN-AS1c.69591A>C (p.Glu23197Asp)
c.50676A>C (p.Glu16892Asp)
c.50475A>C (p.Glu16825Asp)
c.50100A>C (p.Glu16700Asp)
c.77295A>C (p.Glu25765Asp)
c.72372A>C (p.Glu24124Asp)
n.447-2463T>G
n.2044-13735T>G
c.76392A>C (p.Glu25464Asp)
c.50286A>C (p.Glu16762Asp)
c.50145A>C (p.Glu16715Asp)
c.76188A>C (p.Glu25396Asp)
c.71586A>C (p.Glu23862Asp)
c.71583A>C (p.Glu23861Asp)
c.68625A>C (p.Glu22875Asp)
c.50241A>C (p.Glu16747Asp)
c.71736A>C (p.Glu23912Asp)
c.71733A>C (p.Glu23911Asp)
c.71166A>C (p.Glu23722Asp)
c.68508A>C (p.Glu22836Asp)
c.68427A>C (p.Glu22809Asp)
c.50190A>C (p.Glu16730Asp)
c.40044A>C (p.Glu13348Asp)
 dbSNP
2g.178568837T=CA1310530742TTN,TTN-AS1c.69591A= (p.Glu23197=)
c.50676A= (p.Glu16892=)
c.50475A= (p.Glu16825=)
c.50100A= (p.Glu16700=)
c.77295A= (p.Glu25765=)
c.72372A= (p.Glu24124=)
n.447-2463T=
n.2044-13735T=
c.76392A= (p.Glu25464=)
c.50286A= (p.Glu16762=)
c.50145A= (p.Glu16715=)
c.76188A= (p.Glu25396=)
c.71586A= (p.Glu23862=)
c.71583A= (p.Glu23861=)
c.68625A= (p.Glu22875=)
c.50241A= (p.Glu16747=)
c.71736A= (p.Glu23912=)
c.71733A= (p.Glu23911=)
c.71166A= (p.Glu23722=)
c.68508A= (p.Glu22836=)
c.68427A= (p.Glu22809=)
c.50190A= (p.Glu16730=)
c.40044A= (p.Glu13348=)
2g.178568838T>ACA349611399TTN,TTN-AS1c.69590A>T (p.Glu23197Val)
c.50675A>T (p.Glu16892Val)
c.50474A>T (p.Glu16825Val)
c.50099A>T (p.Glu16700Val)
c.77294A>T (p.Glu25765Val)
c.72371A>T (p.Glu24124Val)
n.447-2462T>A
n.2044-13734T>A
c.76391A>T (p.Glu25464Val)
c.50285A>T (p.Glu16762Val)
c.50144A>T (p.Glu16715Val)
c.76187A>T (p.Glu25396Val)
c.71585A>T (p.Glu23862Val)
c.71582A>T (p.Glu23861Val)
c.68624A>T (p.Glu22875Val)
c.50240A>T (p.Glu16747Val)
c.71735A>T (p.Glu23912Val)
c.71732A>T (p.Glu23911Val)
c.71165A>T (p.Glu23722Val)
c.68507A>T (p.Glu22836Val)
c.68426A>T (p.Glu22809Val)
c.50189A>T (p.Glu16730Val)
c.40043A>T (p.Glu13348Val)
2g.178568838T>CCA349611401TTN,TTN-AS1c.69590A>G (p.Glu23197Gly)
c.50675A>G (p.Glu16892Gly)
c.50474A>G (p.Glu16825Gly)
c.50099A>G (p.Glu16700Gly)
c.77294A>G (p.Glu25765Gly)
c.72371A>G (p.Glu24124Gly)
n.447-2462T>C
n.2044-13734T>C
c.76391A>G (p.Glu25464Gly)
c.50285A>G (p.Glu16762Gly)
c.50144A>G (p.Glu16715Gly)
c.76187A>G (p.Glu25396Gly)
c.71585A>G (p.Glu23862Gly)
c.71582A>G (p.Glu23861Gly)
c.68624A>G (p.Glu22875Gly)
c.50240A>G (p.Glu16747Gly)
c.71735A>G (p.Glu23912Gly)
c.71732A>G (p.Glu23911Gly)
c.71165A>G (p.Glu23722Gly)
c.68507A>G (p.Glu22836Gly)
c.68426A>G (p.Glu22809Gly)
c.50189A>G (p.Glu16730Gly)
c.40043A>G (p.Glu13348Gly)
2g.178568838T>GCA349611403TTN,TTN-AS1c.69590A>C (p.Glu23197Ala)
c.50675A>C (p.Glu16892Ala)
c.50474A>C (p.Glu16825Ala)
c.50099A>C (p.Glu16700Ala)
c.77294A>C (p.Glu25765Ala)
c.72371A>C (p.Glu24124Ala)
n.447-2462T>G
n.2044-13734T>G
c.76391A>C (p.Glu25464Ala)
c.50285A>C (p.Glu16762Ala)
c.50144A>C (p.Glu16715Ala)
c.76187A>C (p.Glu25396Ala)
c.71585A>C (p.Glu23862Ala)
c.71582A>C (p.Glu23861Ala)
c.68624A>C (p.Glu22875Ala)
c.50240A>C (p.Glu16747Ala)
c.71735A>C (p.Glu23912Ala)
c.71732A>C (p.Glu23911Ala)
c.71165A>C (p.Glu23722Ala)
c.68507A>C (p.Glu22836Ala)
c.68426A>C (p.Glu22809Ala)
c.50189A>C (p.Glu16730Ala)
c.40043A>C (p.Glu13348Ala)
2g.178568838T=CA1310530744TTN,TTN-AS1c.69590A= (p.Glu23197=)
c.50675A= (p.Glu16892=)
c.50474A= (p.Glu16825=)
c.50099A= (p.Glu16700=)
c.77294A= (p.Glu25765=)
c.72371A= (p.Glu24124=)
n.447-2462T=
n.2044-13734T=
c.76391A= (p.Glu25464=)
c.50285A= (p.Glu16762=)
c.50144A= (p.Glu16715=)
c.76187A= (p.Glu25396=)
c.71585A= (p.Glu23862=)
c.71582A= (p.Glu23861=)
c.68624A= (p.Glu22875=)
c.50240A= (p.Glu16747=)
c.71735A= (p.Glu23912=)
c.71732A= (p.Glu23911=)
c.71165A= (p.Glu23722=)
c.68507A= (p.Glu22836=)
c.68426A= (p.Glu22809=)
c.50189A= (p.Glu16730=)
c.40043A= (p.Glu13348=)
2g.178568839C>ACA349611407TTN,TTN-AS1c.69589G>T (p.Glu23197Ter)
c.50674G>T (p.Glu16892Ter)
c.50473G>T (p.Glu16825Ter)
c.50098G>T (p.Glu16700Ter)
c.77293G>T (p.Glu25765Ter)
c.72370G>T (p.Glu24124Ter)
n.447-2461C>A
n.2044-13733C>A
c.76390G>T (p.Glu25464Ter)
c.50284G>T (p.Glu16762Ter)
c.50143G>T (p.Glu16715Ter)
c.76186G>T (p.Glu25396Ter)
c.71584G>T (p.Glu23862Ter)
c.71581G>T (p.Glu23861Ter)
c.68623G>T (p.Glu22875Ter)
c.50239G>T (p.Glu16747Ter)
c.71734G>T (p.Glu23912Ter)
c.71731G>T (p.Glu23911Ter)
c.71164G>T (p.Glu23722Ter)
c.68506G>T (p.Glu22836Ter)
c.68425G>T (p.Glu22809Ter)
c.50188G>T (p.Glu16730Ter)
c.40042G>T (p.Glu13348Ter)
2g.178568839C>GCA349611409TTN,TTN-AS1c.69589G>C (p.Glu23197Gln)
c.50674G>C (p.Glu16892Gln)
c.50473G>C (p.Glu16825Gln)
c.50098G>C (p.Glu16700Gln)
c.77293G>C (p.Glu25765Gln)
c.72370G>C (p.Glu24124Gln)
n.447-2461C>G
n.2044-13733C>G
c.76390G>C (p.Glu25464Gln)
c.50284G>C (p.Glu16762Gln)
c.50143G>C (p.Glu16715Gln)
c.76186G>C (p.Glu25396Gln)
c.71584G>C (p.Glu23862Gln)
c.71581G>C (p.Glu23861Gln)
c.68623G>C (p.Glu22875Gln)
c.50239G>C (p.Glu16747Gln)
c.71734G>C (p.Glu23912Gln)
c.71731G>C (p.Glu23911Gln)
c.71164G>C (p.Glu23722Gln)
c.68506G>C (p.Glu22836Gln)
c.68425G>C (p.Glu22809Gln)
c.50188G>C (p.Glu16730Gln)
c.40042G>C (p.Glu13348Gln)
2g.178568839C>TCA349611411TTN,TTN-AS1c.69589G>A (p.Glu23197Lys)
c.50674G>A (p.Glu16892Lys)
c.50473G>A (p.Glu16825Lys)
c.50098G>A (p.Glu16700Lys)
c.77293G>A (p.Glu25765Lys)
c.72370G>A (p.Glu24124Lys)
n.447-2461C>T
n.2044-13733C>T
c.76390G>A (p.Glu25464Lys)
c.50284G>A (p.Glu16762Lys)
c.50143G>A (p.Glu16715Lys)
c.76186G>A (p.Glu25396Lys)
c.71584G>A (p.Glu23862Lys)
c.71581G>A (p.Glu23861Lys)
c.68623G>A (p.Glu22875Lys)
c.50239G>A (p.Glu16747Lys)
c.71734G>A (p.Glu23912Lys)
c.71731G>A (p.Glu23911Lys)
c.71164G>A (p.Glu23722Lys)
c.68506G>A (p.Glu22836Lys)
c.68425G>A (p.Glu22809Lys)
c.50188G>A (p.Glu16730Lys)
c.40042G>A (p.Glu13348Lys)
 dbSNP
2g.178568842dupCA60993087TTN,TTN-AS1c.69589dup (p.Glu23197GlyfsTer6)
c.50674dup (p.Glu16892GlyfsTer6)
c.50473dup (p.Glu16825GlyfsTer6)
c.50098dup (p.Glu16700GlyfsTer6)
c.77293dup (p.Glu25765GlyfsTer6)
c.72370dup (p.Glu24124GlyfsTer6)
n.447-2458dup
n.2044-13730dup
c.76390dup (p.Glu25464GlyfsTer6)
c.50284dup (p.Glu16762GlyfsTer6)
c.50143dup (p.Glu16715GlyfsTer6)
c.76186dup (p.Glu25396GlyfsTer6)
c.71584dup (p.Glu23862GlyfsTer6)
c.71581dup (p.Glu23861GlyfsTer6)
c.68623dup (p.Glu22875GlyfsTer6)
c.50239dup (p.Glu16747GlyfsTer6)
c.71734dup (p.Glu23912GlyfsTer6)
c.71731dup (p.Glu23911GlyfsTer6)
c.71164dup (p.Glu23722GlyfsTer6)
c.68506dup (p.Glu22836GlyfsTer6)
c.68425dup (p.Glu22809GlyfsTer6)
c.50188dup (p.Glu16730GlyfsTer6)
c.40042dup (p.Glu13348GlyfsTer6)
 dbSNP
2g.178568840C>ACA430253519TTN,TTN-AS1c.69588G>T (p.Gly23196=)
c.50673G>T (p.Gly16891=)
c.50472G>T (p.Gly16824=)
c.50097G>T (p.Gly16699=)
c.77292G>T (p.Gly25764=)
c.72369G>T (p.Gly24123=)
n.447-2460C>A
n.2044-13732C>A
c.76389G>T (p.Gly25463=)
c.50283G>T (p.Gly16761=)
c.50142G>T (p.Gly16714=)
c.76185G>T (p.Gly25395=)
c.71583G>T (p.Gly23861=)
c.71580G>T (p.Gly23860=)
c.68622G>T (p.Gly22874=)
c.50238G>T (p.Gly16746=)
c.71733G>T (p.Gly23911=)
c.71730G>T (p.Gly23910=)
c.71163G>T (p.Gly23721=)
c.68505G>T (p.Gly22835=)
c.68424G>T (p.Gly22808=)
c.50187G>T (p.Gly16729=)
c.40041G>T (p.Gly13347=)
2g.178568840C=CA1310530746TTN,TTN-AS1c.69588G= (p.Gly23196=)
c.50673G= (p.Gly16891=)
c.50472G= (p.Gly16824=)
c.50097G= (p.Gly16699=)
c.77292G= (p.Gly25764=)
c.72369G= (p.Gly24123=)
n.447-2460C=
n.2044-13732C=
c.76389G= (p.Gly25463=)
c.50283G= (p.Gly16761=)
c.50142G= (p.Gly16714=)
c.76185G= (p.Gly25395=)
c.71583G= (p.Gly23861=)
c.71580G= (p.Gly23860=)
c.68622G= (p.Gly22874=)
c.50238G= (p.Gly16746=)
c.71733G= (p.Gly23911=)
c.71730G= (p.Gly23910=)
c.71163G= (p.Gly23721=)
c.68505G= (p.Gly22835=)
c.68424G= (p.Gly22808=)
c.50187G= (p.Gly16729=)
c.40041G= (p.Gly13347=)
2g.178568840C>GCA430253520TTN,TTN-AS1c.69588G>C (p.Gly23196=)
c.50673G>C (p.Gly16891=)
c.50472G>C (p.Gly16824=)
c.50097G>C (p.Gly16699=)
c.77292G>C (p.Gly25764=)
c.72369G>C (p.Gly24123=)
n.447-2460C>G
n.2044-13732C>G
c.76389G>C (p.Gly25463=)
c.50283G>C (p.Gly16761=)
c.50142G>C (p.Gly16714=)
c.76185G>C (p.Gly25395=)
c.71583G>C (p.Gly23861=)
c.71580G>C (p.Gly23860=)
c.68622G>C (p.Gly22874=)
c.50238G>C (p.Gly16746=)
c.71733G>C (p.Gly23911=)
c.71730G>C (p.Gly23910=)
c.71163G>C (p.Gly23721=)
c.68505G>C (p.Gly22835=)
c.68424G>C (p.Gly22808=)
c.50187G>C (p.Gly16729=)
c.40041G>C (p.Gly13347=)
2g.178568840C>TCA430253521TTN,TTN-AS1c.69588G>A (p.Gly23196=)
c.50673G>A (p.Gly16891=)
c.50472G>A (p.Gly16824=)
c.50097G>A (p.Gly16699=)
c.77292G>A (p.Gly25764=)
c.72369G>A (p.Gly24123=)
n.447-2460C>T
n.2044-13732C>T
c.76389G>A (p.Gly25463=)
c.50283G>A (p.Gly16761=)
c.50142G>A (p.Gly16714=)
c.76185G>A (p.Gly25395=)
c.71583G>A (p.Gly23861=)
c.71580G>A (p.Gly23860=)
c.68622G>A (p.Gly22874=)
c.50238G>A (p.Gly16746=)
c.71733G>A (p.Gly23911=)
c.71730G>A (p.Gly23910=)
c.71163G>A (p.Gly23721=)
c.68505G>A (p.Gly22835=)
c.68424G>A (p.Gly22808=)
c.50187G>A (p.Gly16729=)
c.40041G>A (p.Gly13347=)
 dbSNP gnomAD v2 gnomAD v4
2g.178568841C>ACA349611417TTN,TTN-AS1c.69587G>T (p.Gly23196Val)
c.50672G>T (p.Gly16891Val)
c.50471G>T (p.Gly16824Val)
c.50096G>T (p.Gly16699Val)
c.77291G>T (p.Gly25764Val)
c.72368G>T (p.Gly24123Val)
n.447-2459C>A
n.2044-13731C>A
c.76388G>T (p.Gly25463Val)
c.50282G>T (p.Gly16761Val)
c.50141G>T (p.Gly16714Val)
c.76184G>T (p.Gly25395Val)
c.71582G>T (p.Gly23861Val)
c.71579G>T (p.Gly23860Val)
c.68621G>T (p.Gly22874Val)
c.50237G>T (p.Gly16746Val)
c.71732G>T (p.Gly23911Val)
c.71729G>T (p.Gly23910Val)
c.71162G>T (p.Gly23721Val)
c.68504G>T (p.Gly22835Val)
c.68423G>T (p.Gly22808Val)
c.50186G>T (p.Gly16729Val)
c.40040G>T (p.Gly13347Val)
2g.178568841C>GCA349611419TTN,TTN-AS1c.69587G>C (p.Gly23196Ala)
c.50672G>C (p.Gly16891Ala)
c.50471G>C (p.Gly16824Ala)
c.50096G>C (p.Gly16699Ala)
c.77291G>C (p.Gly25764Ala)
c.72368G>C (p.Gly24123Ala)
n.447-2459C>G
n.2044-13731C>G
c.76388G>C (p.Gly25463Ala)
c.50282G>C (p.Gly16761Ala)
c.50141G>C (p.Gly16714Ala)
c.76184G>C (p.Gly25395Ala)
c.71582G>C (p.Gly23861Ala)
c.71579G>C (p.Gly23860Ala)
c.68621G>C (p.Gly22874Ala)
c.50237G>C (p.Gly16746Ala)
c.71732G>C (p.Gly23911Ala)
c.71729G>C (p.Gly23910Ala)
c.71162G>C (p.Gly23721Ala)
c.68504G>C (p.Gly22835Ala)
c.68423G>C (p.Gly22808Ala)
c.50186G>C (p.Gly16729Ala)
c.40040G>C (p.Gly13347Ala)
2g.178568841C>TCA349611414TTN,TTN-AS1c.69587G>A (p.Gly23196Glu)
c.50672G>A (p.Gly16891Glu)
c.50471G>A (p.Gly16824Glu)
c.50096G>A (p.Gly16699Glu)
c.77291G>A (p.Gly25764Glu)
c.72368G>A (p.Gly24123Glu)
n.447-2459C>T
n.2044-13731C>T
c.76388G>A (p.Gly25463Glu)
c.50282G>A (p.Gly16761Glu)
c.50141G>A (p.Gly16714Glu)
c.76184G>A (p.Gly25395Glu)
c.71582G>A (p.Gly23861Glu)
c.71579G>A (p.Gly23860Glu)
c.68621G>A (p.Gly22874Glu)
c.50237G>A (p.Gly16746Glu)
c.71732G>A (p.Gly23911Glu)
c.71729G>A (p.Gly23910Glu)
c.71162G>A (p.Gly23721Glu)
c.68504G>A (p.Gly22835Glu)
c.68423G>A (p.Gly22808Glu)
c.50186G>A (p.Gly16729Glu)
c.40040G>A (p.Gly13347Glu)
2g.178568842C>ACA349611421TTN,TTN-AS1c.69586G>T (p.Gly23196Trp)
c.50671G>T (p.Gly16891Trp)
c.50470G>T (p.Gly16824Trp)
c.50095G>T (p.Gly16699Trp)
c.77290G>T (p.Gly25764Trp)
c.72367G>T (p.Gly24123Trp)
n.447-2458C>A
n.2044-13730C>A
c.76387G>T (p.Gly25463Trp)
c.50281G>T (p.Gly16761Trp)
c.50140G>T (p.Gly16714Trp)
c.76183G>T (p.Gly25395Trp)
c.71581G>T (p.Gly23861Trp)
c.71578G>T (p.Gly23860Trp)
c.68620G>T (p.Gly22874Trp)
c.50236G>T (p.Gly16746Trp)
c.71731G>T (p.Gly23911Trp)
c.71728G>T (p.Gly23910Trp)
c.71161G>T (p.Gly23721Trp)
c.68503G>T (p.Gly22835Trp)
c.68422G>T (p.Gly22808Trp)
c.50185G>T (p.Gly16729Trp)
c.40039G>T (p.Gly13347Trp)
2g.178568842C>GCA349611423TTN,TTN-AS1c.69586G>C (p.Gly23196Arg)
c.50671G>C (p.Gly16891Arg)
c.50470G>C (p.Gly16824Arg)
c.50095G>C (p.Gly16699Arg)
c.77290G>C (p.Gly25764Arg)
c.72367G>C (p.Gly24123Arg)
n.447-2458C>G
n.2044-13730C>G
c.76387G>C (p.Gly25463Arg)
c.50281G>C (p.Gly16761Arg)
c.50140G>C (p.Gly16714Arg)
c.76183G>C (p.Gly25395Arg)
c.71581G>C (p.Gly23861Arg)
c.71578G>C (p.Gly23860Arg)
c.68620G>C (p.Gly22874Arg)
c.50236G>C (p.Gly16746Arg)
c.71731G>C (p.Gly23911Arg)
c.71728G>C (p.Gly23910Arg)
c.71161G>C (p.Gly23721Arg)
c.68503G>C (p.Gly22835Arg)
c.68422G>C (p.Gly22808Arg)
c.50185G>C (p.Gly16729Arg)
c.40039G>C (p.Gly13347Arg)
 gnomAD v3 gnomAD v4
2g.178568842C>TCA349611426TTN,TTN-AS1c.69586G>A (p.Gly23196Arg)
c.50671G>A (p.Gly16891Arg)
c.50470G>A (p.Gly16824Arg)
c.50095G>A (p.Gly16699Arg)
c.77290G>A (p.Gly25764Arg)
c.72367G>A (p.Gly24123Arg)
n.447-2458C>T
n.2044-13730C>T
c.76387G>A (p.Gly25463Arg)
c.50281G>A (p.Gly16761Arg)
c.50140G>A (p.Gly16714Arg)
c.76183G>A (p.Gly25395Arg)
c.71581G>A (p.Gly23861Arg)
c.71578G>A (p.Gly23860Arg)
c.68620G>A (p.Gly22874Arg)
c.50236G>A (p.Gly16746Arg)
c.71731G>A (p.Gly23911Arg)
c.71728G>A (p.Gly23910Arg)
c.71161G>A (p.Gly23721Arg)
c.68503G>A (p.Gly22835Arg)
c.68422G>A (p.Gly22808Arg)
c.50185G>A (p.Gly16729Arg)
c.40039G>A (p.Gly13347Arg)
 gnomAD v4
2g.178568843T>ACA349611428TTN,TTN-AS1c.69585A>T (p.Gln23195His)
c.50670A>T (p.Gln16890His)
c.50469A>T (p.Gln16823His)
c.50094A>T (p.Gln16698His)
c.77289A>T (p.Gln25763His)
c.72366A>T (p.Gln24122His)
n.447-2457T>A
n.2044-13729T>A
c.76386A>T (p.Gln25462His)
c.50280A>T (p.Gln16760His)
c.50139A>T (p.Gln16713His)
c.76182A>T (p.Gln25394His)
c.71580A>T (p.Gln23860His)
c.71577A>T (p.Gln23859His)
c.68619A>T (p.Gln22873His)
c.50235A>T (p.Gln16745His)
c.71730A>T (p.Gln23910His)
c.71727A>T (p.Gln23909His)
c.71160A>T (p.Gln23720His)
c.68502A>T (p.Gln22834His)
c.68421A>T (p.Gln22807His)
c.50184A>T (p.Gln16728His)
c.40038A>T (p.Gln13346His)
2g.178568843T>CCA430253533TTN,TTN-AS1c.69585A>G (p.Gln23195=)
c.50670A>G (p.Gln16890=)
c.50469A>G (p.Gln16823=)
c.50094A>G (p.Gln16698=)
c.77289A>G (p.Gln25763=)
c.72366A>G (p.Gln24122=)
n.447-2457T>C
n.2044-13729T>C
c.76386A>G (p.Gln25462=)
c.50280A>G (p.Gln16760=)
c.50139A>G (p.Gln16713=)
c.76182A>G (p.Gln25394=)
c.71580A>G (p.Gln23860=)
c.71577A>G (p.Gln23859=)
c.68619A>G (p.Gln22873=)
c.50235A>G (p.Gln16745=)
c.71730A>G (p.Gln23910=)
c.71727A>G (p.Gln23909=)
c.71160A>G (p.Gln23720=)
c.68502A>G (p.Gln22834=)
c.68421A>G (p.Gln22807=)
c.50184A>G (p.Gln16728=)
c.40038A>G (p.Gln13346=)
 dbSNP
2g.178568843T>GCA349611431TTN,TTN-AS1c.69585A>C (p.Gln23195His)
c.50670A>C (p.Gln16890His)
c.50469A>C (p.Gln16823His)
c.50094A>C (p.Gln16698His)
c.77289A>C (p.Gln25763His)
c.72366A>C (p.Gln24122His)
n.447-2457T>G
n.2044-13729T>G
c.76386A>C (p.Gln25462His)
c.50280A>C (p.Gln16760His)
c.50139A>C (p.Gln16713His)
c.76182A>C (p.Gln25394His)
c.71580A>C (p.Gln23860His)
c.71577A>C (p.Gln23859His)
c.68619A>C (p.Gln22873His)
c.50235A>C (p.Gln16745His)
c.71730A>C (p.Gln23910His)
c.71727A>C (p.Gln23909His)
c.71160A>C (p.Gln23720His)
c.68502A>C (p.Gln22834His)
c.68421A>C (p.Gln22807His)
c.50184A>C (p.Gln16728His)
c.40038A>C (p.Gln13346His)
2g.178568844T>ACA349611440TTN,TTN-AS1c.69584A>T (p.Gln23195Leu)
c.50669A>T (p.Gln16890Leu)
c.50468A>T (p.Gln16823Leu)
c.50093A>T (p.Gln16698Leu)
c.77288A>T (p.Gln25763Leu)
c.72365A>T (p.Gln24122Leu)
n.447-2456T>A
n.2044-13728T>A
c.76385A>T (p.Gln25462Leu)
c.50279A>T (p.Gln16760Leu)
c.50138A>T (p.Gln16713Leu)
c.76181A>T (p.Gln25394Leu)
c.71579A>T (p.Gln23860Leu)
c.71576A>T (p.Gln23859Leu)
c.68618A>T (p.Gln22873Leu)
c.50234A>T (p.Gln16745Leu)
c.71729A>T (p.Gln23910Leu)
c.71726A>T (p.Gln23909Leu)
c.71159A>T (p.Gln23720Leu)
c.68501A>T (p.Gln22834Leu)
c.68420A>T (p.Gln22807Leu)
c.50183A>T (p.Gln16728Leu)
c.40037A>T (p.Gln13346Leu)
2g.178568844T>CCA349611436TTN,TTN-AS1c.69584A>G (p.Gln23195Arg)
c.50669A>G (p.Gln16890Arg)
c.50468A>G (p.Gln16823Arg)
c.50093A>G (p.Gln16698Arg)
c.77288A>G (p.Gln25763Arg)
c.72365A>G (p.Gln24122Arg)
n.447-2456T>C
n.2044-13728T>C
c.76385A>G (p.Gln25462Arg)
c.50279A>G (p.Gln16760Arg)
c.50138A>G (p.Gln16713Arg)
c.76181A>G (p.Gln25394Arg)
c.71579A>G (p.Gln23860Arg)
c.71576A>G (p.Gln23859Arg)
c.68618A>G (p.Gln22873Arg)
c.50234A>G (p.Gln16745Arg)
c.71729A>G (p.Gln23910Arg)
c.71726A>G (p.Gln23909Arg)
c.71159A>G (p.Gln23720Arg)
c.68501A>G (p.Gln22834Arg)
c.68420A>G (p.Gln22807Arg)
c.50183A>G (p.Gln16728Arg)
c.40037A>G (p.Gln13346Arg)
 gnomAD v4
2g.178568844T>GCA349611438TTN,TTN-AS1c.69584A>C (p.Gln23195Pro)
c.50669A>C (p.Gln16890Pro)
c.50468A>C (p.Gln16823Pro)
c.50093A>C (p.Gln16698Pro)
c.77288A>C (p.Gln25763Pro)
c.72365A>C (p.Gln24122Pro)
n.447-2456T>G
n.2044-13728T>G
c.76385A>C (p.Gln25462Pro)
c.50279A>C (p.Gln16760Pro)
c.50138A>C (p.Gln16713Pro)
c.76181A>C (p.Gln25394Pro)
c.71579A>C (p.Gln23860Pro)
c.71576A>C (p.Gln23859Pro)
c.68618A>C (p.Gln22873Pro)
c.50234A>C (p.Gln16745Pro)
c.71729A>C (p.Gln23910Pro)
c.71726A>C (p.Gln23909Pro)
c.71159A>C (p.Gln23720Pro)
c.68501A>C (p.Gln22834Pro)
c.68420A>C (p.Gln22807Pro)
c.50183A>C (p.Gln16728Pro)
c.40037A>C (p.Gln13346Pro)
 gnomAD v4
2g.178568845G>ACA349611444TTN,TTN-AS1c.69583C>T (p.Gln23195Ter)
c.50668C>T (p.Gln16890Ter)
c.50467C>T (p.Gln16823Ter)
c.50092C>T (p.Gln16698Ter)
c.77287C>T (p.Gln25763Ter)
c.72364C>T (p.Gln24122Ter)
n.447-2455G>A
n.2044-13727G>A
c.76384C>T (p.Gln25462Ter)
c.50278C>T (p.Gln16760Ter)
c.50137C>T (p.Gln16713Ter)
c.76180C>T (p.Gln25394Ter)
c.71578C>T (p.Gln23860Ter)
c.71575C>T (p.Gln23859Ter)
c.68617C>T (p.Gln22873Ter)
c.50233C>T (p.Gln16745Ter)
c.71728C>T (p.Gln23910Ter)
c.71725C>T (p.Gln23909Ter)
c.71158C>T (p.Gln23720Ter)
c.68500C>T (p.Gln22834Ter)
c.68419C>T (p.Gln22807Ter)
c.50182C>T (p.Gln16728Ter)
c.40036C>T (p.Gln13346Ter)
 COSMIC COSMIC COSMIC COSMIC
2g.178568845G>CCA349611445TTN,TTN-AS1c.69583C>G (p.Gln23195Glu)
c.50668C>G (p.Gln16890Glu)
c.50467C>G (p.Gln16823Glu)
c.50092C>G (p.Gln16698Glu)
c.77287C>G (p.Gln25763Glu)
c.72364C>G (p.Gln24122Glu)
n.447-2455G>C
n.2044-13727G>C
c.76384C>G (p.Gln25462Glu)
c.50278C>G (p.Gln16760Glu)
c.50137C>G (p.Gln16713Glu)
c.76180C>G (p.Gln25394Glu)
c.71578C>G (p.Gln23860Glu)
c.71575C>G (p.Gln23859Glu)
c.68617C>G (p.Gln22873Glu)
c.50233C>G (p.Gln16745Glu)
c.71728C>G (p.Gln23910Glu)
c.71725C>G (p.Gln23909Glu)
c.71158C>G (p.Gln23720Glu)
c.68500C>G (p.Gln22834Glu)
c.68419C>G (p.Gln22807Glu)
c.50182C>G (p.Gln16728Glu)
c.40036C>G (p.Gln13346Glu)
2g.178568845G>TCA349611449TTN,TTN-AS1c.69583C>A (p.Gln23195Lys)
c.50668C>A (p.Gln16890Lys)
c.50467C>A (p.Gln16823Lys)
c.50092C>A (p.Gln16698Lys)
c.77287C>A (p.Gln25763Lys)
c.72364C>A (p.Gln24122Lys)
n.447-2455G>T
n.2044-13727G>T
c.76384C>A (p.Gln25462Lys)
c.50278C>A (p.Gln16760Lys)
c.50137C>A (p.Gln16713Lys)
c.76180C>A (p.Gln25394Lys)
c.71578C>A (p.Gln23860Lys)
c.71575C>A (p.Gln23859Lys)
c.68617C>A (p.Gln22873Lys)
c.50233C>A (p.Gln16745Lys)
c.71728C>A (p.Gln23910Lys)
c.71725C>A (p.Gln23909Lys)
c.71158C>A (p.Gln23720Lys)
c.68500C>A (p.Gln22834Lys)
c.68419C>A (p.Gln22807Lys)
c.50182C>A (p.Gln16728Lys)
c.40036C>A (p.Gln13346Lys)
 gnomAD v4
2g.178568846A>CCA430253541TTN,TTN-AS1c.69582T>G (p.Thr23194=)
c.50667T>G (p.Thr16889=)
c.50466T>G (p.Thr16822=)
c.50091T>G (p.Thr16697=)
c.77286T>G (p.Thr25762=)
c.72363T>G (p.Thr24121=)
n.447-2454A>C
n.2044-13726A>C
c.76383T>G (p.Thr25461=)
c.50277T>G (p.Thr16759=)
c.50136T>G (p.Thr16712=)
c.76179T>G (p.Thr25393=)
c.71577T>G (p.Thr23859=)
c.71574T>G (p.Thr23858=)
c.68616T>G (p.Thr22872=)
c.50232T>G (p.Thr16744=)
c.71727T>G (p.Thr23909=)
c.71724T>G (p.Thr23908=)
c.71157T>G (p.Thr23719=)
c.68499T>G (p.Thr22833=)
c.68418T>G (p.Thr22806=)
c.50181T>G (p.Thr16727=)
c.40035T>G (p.Thr13345=)
2g.178568846A>GCA430253542TTN,TTN-AS1c.69582T>C (p.Thr23194=)
c.50667T>C (p.Thr16889=)
c.50466T>C (p.Thr16822=)
c.50091T>C (p.Thr16697=)
c.77286T>C (p.Thr25762=)
c.72363T>C (p.Thr24121=)
n.447-2454A>G
n.2044-13726A>G
c.76383T>C (p.Thr25461=)
c.50277T>C (p.Thr16759=)
c.50136T>C (p.Thr16712=)
c.76179T>C (p.Thr25393=)
c.71577T>C (p.Thr23859=)
c.71574T>C (p.Thr23858=)
c.68616T>C (p.Thr22872=)
c.50232T>C (p.Thr16744=)
c.71727T>C (p.Thr23909=)
c.71724T>C (p.Thr23908=)
c.71157T>C (p.Thr23719=)
c.68499T>C (p.Thr22833=)
c.68418T>C (p.Thr22806=)
c.50181T>C (p.Thr16727=)
c.40035T>C (p.Thr13345=)
2g.178568846A>TCA430253543TTN,TTN-AS1c.69582T>A (p.Thr23194=)
c.50667T>A (p.Thr16889=)
c.50466T>A (p.Thr16822=)
c.50091T>A (p.Thr16697=)
c.77286T>A (p.Thr25762=)
c.72363T>A (p.Thr24121=)
n.447-2454A>T
n.2044-13726A>T
c.76383T>A (p.Thr25461=)
c.50277T>A (p.Thr16759=)
c.50136T>A (p.Thr16712=)
c.76179T>A (p.Thr25393=)
c.71577T>A (p.Thr23859=)
c.71574T>A (p.Thr23858=)
c.68616T>A (p.Thr22872=)
c.50232T>A (p.Thr16744=)
c.71727T>A (p.Thr23909=)
c.71724T>A (p.Thr23908=)
c.71157T>A (p.Thr23719=)
c.68499T>A (p.Thr22833=)
c.68418T>A (p.Thr22806=)
c.50181T>A (p.Thr16727=)
c.40035T>A (p.Thr13345=)
2g.178568847G>ACA349611452TTN,TTN-AS1c.69581C>T (p.Thr23194Ile)
c.50666C>T (p.Thr16889Ile)
c.50465C>T (p.Thr16822Ile)
c.50090C>T (p.Thr16697Ile)
c.77285C>T (p.Thr25762Ile)
c.72362C>T (p.Thr24121Ile)
n.447-2453G>A
n.2044-13725G>A
c.76382C>T (p.Thr25461Ile)
c.50276C>T (p.Thr16759Ile)
c.50135C>T (p.Thr16712Ile)
c.76178C>T (p.Thr25393Ile)
c.71576C>T (p.Thr23859Ile)
c.71573C>T (p.Thr23858Ile)
c.68615C>T (p.Thr22872Ile)
c.50231C>T (p.Thr16744Ile)
c.71726C>T (p.Thr23909Ile)
c.71723C>T (p.Thr23908Ile)
c.71156C>T (p.Thr23719Ile)
c.68498C>T (p.Thr22833Ile)
c.68417C>T (p.Thr22806Ile)
c.50180C>T (p.Thr16727Ile)
c.40034C>T (p.Thr13345Ile)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178568847G>CCA349611454TTN,TTN-AS1c.69581C>G (p.Thr23194Ser)
c.50666C>G (p.Thr16889Ser)
c.50465C>G (p.Thr16822Ser)
c.50090C>G (p.Thr16697Ser)
c.77285C>G (p.Thr25762Ser)
c.72362C>G (p.Thr24121Ser)
n.447-2453G>C
n.2044-13725G>C
c.76382C>G (p.Thr25461Ser)
c.50276C>G (p.Thr16759Ser)
c.50135C>G (p.Thr16712Ser)
c.76178C>G (p.Thr25393Ser)
c.71576C>G (p.Thr23859Ser)
c.71573C>G (p.Thr23858Ser)
c.68615C>G (p.Thr22872Ser)
c.50231C>G (p.Thr16744Ser)
c.71726C>G (p.Thr23909Ser)
c.71723C>G (p.Thr23908Ser)
c.71156C>G (p.Thr23719Ser)
c.68498C>G (p.Thr22833Ser)
c.68417C>G (p.Thr22806Ser)
c.50180C>G (p.Thr16727Ser)
c.40034C>G (p.Thr13345Ser)
2g.178568847G>TCA349611456TTN,TTN-AS1c.69581C>A (p.Thr23194Asn)
c.50666C>A (p.Thr16889Asn)
c.50465C>A (p.Thr16822Asn)
c.50090C>A (p.Thr16697Asn)
c.77285C>A (p.Thr25762Asn)
c.72362C>A (p.Thr24121Asn)
n.447-2453G>T
n.2044-13725G>T
c.76382C>A (p.Thr25461Asn)
c.50276C>A (p.Thr16759Asn)
c.50135C>A (p.Thr16712Asn)
c.76178C>A (p.Thr25393Asn)
c.71576C>A (p.Thr23859Asn)
c.71573C>A (p.Thr23858Asn)
c.68615C>A (p.Thr22872Asn)
c.50231C>A (p.Thr16744Asn)
c.71726C>A (p.Thr23909Asn)
c.71723C>A (p.Thr23908Asn)
c.71156C>A (p.Thr23719Asn)
c.68498C>A (p.Thr22833Asn)
c.68417C>A (p.Thr22806Asn)
c.50180C>A (p.Thr16727Asn)
c.40034C>A (p.Thr13345Asn)
 gnomAD v4
2g.178568848T>ACA349611461TTN,TTN-AS1c.69580A>T (p.Thr23194Ser)
c.50665A>T (p.Thr16889Ser)
c.50464A>T (p.Thr16822Ser)
c.50089A>T (p.Thr16697Ser)
c.77284A>T (p.Thr25762Ser)
c.72361A>T (p.Thr24121Ser)
n.447-2452T>A
n.2044-13724T>A
c.76381A>T (p.Thr25461Ser)
c.50275A>T (p.Thr16759Ser)
c.50134A>T (p.Thr16712Ser)
c.76177A>T (p.Thr25393Ser)
c.71575A>T (p.Thr23859Ser)
c.71572A>T (p.Thr23858Ser)
c.68614A>T (p.Thr22872Ser)
c.50230A>T (p.Thr16744Ser)
c.71725A>T (p.Thr23909Ser)
c.71722A>T (p.Thr23908Ser)
c.71155A>T (p.Thr23719Ser)
c.68497A>T (p.Thr22833Ser)
c.68416A>T (p.Thr22806Ser)
c.50179A>T (p.Thr16727Ser)
c.40033A>T (p.Thr13345Ser)
 gnomAD v4
2g.178568848T>CCA349611463TTN,TTN-AS1c.69580A>G (p.Thr23194Ala)
c.50665A>G (p.Thr16889Ala)
c.50464A>G (p.Thr16822Ala)
c.50089A>G (p.Thr16697Ala)
c.77284A>G (p.Thr25762Ala)
c.72361A>G (p.Thr24121Ala)
n.447-2452T>C
n.2044-13724T>C
c.76381A>G (p.Thr25461Ala)
c.50275A>G (p.Thr16759Ala)
c.50134A>G (p.Thr16712Ala)
c.76177A>G (p.Thr25393Ala)
c.71575A>G (p.Thr23859Ala)
c.71572A>G (p.Thr23858Ala)
c.68614A>G (p.Thr22872Ala)
c.50230A>G (p.Thr16744Ala)
c.71725A>G (p.Thr23909Ala)
c.71722A>G (p.Thr23908Ala)
c.71155A>G (p.Thr23719Ala)
c.68497A>G (p.Thr22833Ala)
c.68416A>G (p.Thr22806Ala)
c.50179A>G (p.Thr16727Ala)
c.40033A>G (p.Thr13345Ala)
2g.178568848T>GCA349611459TTN,TTN-AS1c.69580A>C (p.Thr23194Pro)
c.50665A>C (p.Thr16889Pro)
c.50464A>C (p.Thr16822Pro)
c.50089A>C (p.Thr16697Pro)
c.77284A>C (p.Thr25762Pro)
c.72361A>C (p.Thr24121Pro)
n.447-2452T>G
n.2044-13724T>G
c.76381A>C (p.Thr25461Pro)
c.50275A>C (p.Thr16759Pro)
c.50134A>C (p.Thr16712Pro)
c.76177A>C (p.Thr25393Pro)
c.71575A>C (p.Thr23859Pro)
c.71572A>C (p.Thr23858Pro)
c.68614A>C (p.Thr22872Pro)
c.50230A>C (p.Thr16744Pro)
c.71725A>C (p.Thr23909Pro)
c.71722A>C (p.Thr23908Pro)
c.71155A>C (p.Thr23719Pro)
c.68497A>C (p.Thr22833Pro)
c.68416A>C (p.Thr22806Pro)
c.50179A>C (p.Thr16727Pro)
c.40033A>C (p.Thr13345Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.178568848T=CA1310530748TTN,TTN-AS1c.69580A= (p.Thr23194=)
c.50665A= (p.Thr16889=)
c.50464A= (p.Thr16822=)
c.50089A= (p.Thr16697=)
c.77284A= (p.Thr25762=)
c.72361A= (p.Thr24121=)
n.447-2452T=
n.2044-13724T=
c.76381A= (p.Thr25461=)
c.50275A= (p.Thr16759=)
c.50134A= (p.Thr16712=)
c.76177A= (p.Thr25393=)
c.71575A= (p.Thr23859=)
c.71572A= (p.Thr23858=)
c.68614A= (p.Thr22872=)
c.50230A= (p.Thr16744=)
c.71725A= (p.Thr23909=)
c.71722A= (p.Thr23908=)
c.71155A= (p.Thr23719=)
c.68497A= (p.Thr22833=)
c.68416A= (p.Thr22806=)
c.50179A= (p.Thr16727=)
c.40033A= (p.Thr13345=)
2g.178568849T>ACA430253547TTN,TTN-AS1c.69579A>T (p.Leu23193=)
c.50664A>T (p.Leu16888=)
c.50463A>T (p.Leu16821=)
c.50088A>T (p.Leu16696=)
c.77283A>T (p.Leu25761=)
c.72360A>T (p.Leu24120=)
n.447-2451T>A
n.2044-13723T>A
c.76380A>T (p.Leu25460=)
c.50274A>T (p.Leu16758=)
c.50133A>T (p.Leu16711=)
c.76176A>T (p.Leu25392=)
c.71574A>T (p.Leu23858=)
c.71571A>T (p.Leu23857=)
c.68613A>T (p.Leu22871=)
c.50229A>T (p.Leu16743=)
c.71724A>T (p.Leu23908=)
c.71721A>T (p.Leu23907=)
c.71154A>T (p.Leu23718=)
c.68496A>T (p.Leu22832=)
c.68415A>T (p.Leu22805=)
c.50178A>T (p.Leu16726=)
c.40032A>T (p.Leu13344=)
2g.178568849T>CCA430253548TTN,TTN-AS1c.69579A>G (p.Leu23193=)
c.50664A>G (p.Leu16888=)
c.50463A>G (p.Leu16821=)
c.50088A>G (p.Leu16696=)
c.77283A>G (p.Leu25761=)
c.72360A>G (p.Leu24120=)
n.447-2451T>C
n.2044-13723T>C
c.76380A>G (p.Leu25460=)
c.50274A>G (p.Leu16758=)
c.50133A>G (p.Leu16711=)
c.76176A>G (p.Leu25392=)
c.71574A>G (p.Leu23858=)
c.71571A>G (p.Leu23857=)
c.68613A>G (p.Leu22871=)
c.50229A>G (p.Leu16743=)
c.71724A>G (p.Leu23908=)
c.71721A>G (p.Leu23907=)
c.71154A>G (p.Leu23718=)
c.68496A>G (p.Leu22832=)
c.68415A>G (p.Leu22805=)
c.50178A>G (p.Leu16726=)
c.40032A>G (p.Leu13344=)
 ClinVar gnomAD v4

Number of alleles fetched