Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178568830G>ACA349611341TTN,TTN-AS1c.69598C>T (p.Leu23200Phe)
c.50683C>T (p.Leu16895Phe)
c.50482C>T (p.Leu16828Phe)
c.50107C>T (p.Leu16703Phe)
c.77302C>T (p.Leu25768Phe)
c.72379C>T (p.Leu24127Phe)
n.447-2470G>A
n.2044-13742G>A
c.76399C>T (p.Leu25467Phe)
c.50293C>T (p.Leu16765Phe)
c.50152C>T (p.Leu16718Phe)
c.76195C>T (p.Leu25399Phe)
c.71593C>T (p.Leu23865Phe)
c.71590C>T (p.Leu23864Phe)
c.68632C>T (p.Leu22878Phe)
c.50248C>T (p.Leu16750Phe)
c.71743C>T (p.Leu23915Phe)
c.71740C>T (p.Leu23914Phe)
c.71173C>T (p.Leu23725Phe)
c.68515C>T (p.Leu22839Phe)
c.68434C>T (p.Leu22812Phe)
c.50197C>T (p.Leu16733Phe)
c.40051C>T (p.Leu13351Phe)
2g.178568830G>CCA349611346TTN,TTN-AS1c.69598C>G (p.Leu23200Val)
c.50683C>G (p.Leu16895Val)
c.50482C>G (p.Leu16828Val)
c.50107C>G (p.Leu16703Val)
c.77302C>G (p.Leu25768Val)
c.72379C>G (p.Leu24127Val)
n.447-2470G>C
n.2044-13742G>C
c.76399C>G (p.Leu25467Val)
c.50293C>G (p.Leu16765Val)
c.50152C>G (p.Leu16718Val)
c.76195C>G (p.Leu25399Val)
c.71593C>G (p.Leu23865Val)
c.71590C>G (p.Leu23864Val)
c.68632C>G (p.Leu22878Val)
c.50248C>G (p.Leu16750Val)
c.71743C>G (p.Leu23915Val)
c.71740C>G (p.Leu23914Val)
c.71173C>G (p.Leu23725Val)
c.68515C>G (p.Leu22839Val)
c.68434C>G (p.Leu22812Val)
c.50197C>G (p.Leu16733Val)
c.40051C>G (p.Leu13351Val)
 ClinVar dbSNP gnomAD v4
2g.178568830G=CA1310530727TTN,TTN-AS1c.69598C= (p.Leu23200=)
c.50683C= (p.Leu16895=)
c.50482C= (p.Leu16828=)
c.50107C= (p.Leu16703=)
c.77302C= (p.Leu25768=)
c.72379C= (p.Leu24127=)
n.447-2470G=
n.2044-13742G=
c.76399C= (p.Leu25467=)
c.50293C= (p.Leu16765=)
c.50152C= (p.Leu16718=)
c.76195C= (p.Leu25399=)
c.71593C= (p.Leu23865=)
c.71590C= (p.Leu23864=)
c.68632C= (p.Leu22878=)
c.50248C= (p.Leu16750=)
c.71743C= (p.Leu23915=)
c.71740C= (p.Leu23914=)
c.71173C= (p.Leu23725=)
c.68515C= (p.Leu22839=)
c.68434C= (p.Leu22812=)
c.50197C= (p.Leu16733=)
c.40051C= (p.Leu13351=)
2g.178568830G>TCA1989796TTN,TTN-AS1c.69598C>A (p.Leu23200Ile)
c.50683C>A (p.Leu16895Ile)
c.50482C>A (p.Leu16828Ile)
c.50107C>A (p.Leu16703Ile)
c.77302C>A (p.Leu25768Ile)
c.72379C>A (p.Leu24127Ile)
n.447-2470G>T
n.2044-13742G>T
c.76399C>A (p.Leu25467Ile)
c.50293C>A (p.Leu16765Ile)
c.50152C>A (p.Leu16718Ile)
c.76195C>A (p.Leu25399Ile)
c.71593C>A (p.Leu23865Ile)
c.71590C>A (p.Leu23864Ile)
c.68632C>A (p.Leu22878Ile)
c.50248C>A (p.Leu16750Ile)
c.71743C>A (p.Leu23915Ile)
c.71740C>A (p.Leu23914Ile)
c.71173C>A (p.Leu23725Ile)
c.68515C>A (p.Leu22839Ile)
c.68434C>A (p.Leu22812Ile)
c.50197C>A (p.Leu16733Ile)
c.40051C>A (p.Leu13351Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178568831A=CA1310530730TTN,TTN-AS1c.69597T= (p.Tyr23199=)
c.50682T= (p.Tyr16894=)
c.50481T= (p.Tyr16827=)
c.50106T= (p.Tyr16702=)
c.77301T= (p.Tyr25767=)
c.72378T= (p.Tyr24126=)
n.447-2469A=
n.2044-13741A=
c.76398T= (p.Tyr25466=)
c.50292T= (p.Tyr16764=)
c.50151T= (p.Tyr16717=)
c.76194T= (p.Tyr25398=)
c.71592T= (p.Tyr23864=)
c.71589T= (p.Tyr23863=)
c.68631T= (p.Tyr22877=)
c.50247T= (p.Tyr16749=)
c.71742T= (p.Tyr23914=)
c.71739T= (p.Tyr23913=)
c.71172T= (p.Tyr23724=)
c.68514T= (p.Tyr22838=)
c.68433T= (p.Tyr22811=)
c.50196T= (p.Tyr16732=)
c.40050T= (p.Tyr13350=)
2g.178568831A>CCA349611350TTN,TTN-AS1c.69597T>G (p.Tyr23199Ter)
c.50682T>G (p.Tyr16894Ter)
c.50481T>G (p.Tyr16827Ter)
c.50106T>G (p.Tyr16702Ter)
c.77301T>G (p.Tyr25767Ter)
c.72378T>G (p.Tyr24126Ter)
n.447-2469A>C
n.2044-13741A>C
c.76398T>G (p.Tyr25466Ter)
c.50292T>G (p.Tyr16764Ter)
c.50151T>G (p.Tyr16717Ter)
c.76194T>G (p.Tyr25398Ter)
c.71592T>G (p.Tyr23864Ter)
c.71589T>G (p.Tyr23863Ter)
c.68631T>G (p.Tyr22877Ter)
c.50247T>G (p.Tyr16749Ter)
c.71742T>G (p.Tyr23914Ter)
c.71739T>G (p.Tyr23913Ter)
c.71172T>G (p.Tyr23724Ter)
c.68514T>G (p.Tyr22838Ter)
c.68433T>G (p.Tyr22811Ter)
c.50196T>G (p.Tyr16732Ter)
c.40050T>G (p.Tyr13350Ter)
2g.178568831A>GCA430253798TTN,TTN-AS1c.69597T>C (p.Tyr23199=)
c.50682T>C (p.Tyr16894=)
c.50481T>C (p.Tyr16827=)
c.50106T>C (p.Tyr16702=)
c.77301T>C (p.Tyr25767=)
c.72378T>C (p.Tyr24126=)
n.447-2469A>G
n.2044-13741A>G
c.76398T>C (p.Tyr25466=)
c.50292T>C (p.Tyr16764=)
c.50151T>C (p.Tyr16717=)
c.76194T>C (p.Tyr25398=)
c.71592T>C (p.Tyr23864=)
c.71589T>C (p.Tyr23863=)
c.68631T>C (p.Tyr22877=)
c.50247T>C (p.Tyr16749=)
c.71742T>C (p.Tyr23914=)
c.71739T>C (p.Tyr23913=)
c.71172T>C (p.Tyr23724=)
c.68514T>C (p.Tyr22838=)
c.68433T>C (p.Tyr22811=)
c.50196T>C (p.Tyr16732=)
c.40050T>C (p.Tyr13350=)
 COSMIC COSMIC COSMIC COSMIC
2g.178568831A>TCA349611353TTN,TTN-AS1c.69597T>A (p.Tyr23199Ter)
c.50682T>A (p.Tyr16894Ter)
c.50481T>A (p.Tyr16827Ter)
c.50106T>A (p.Tyr16702Ter)
c.77301T>A (p.Tyr25767Ter)
c.72378T>A (p.Tyr24126Ter)
n.447-2469A>T
n.2044-13741A>T
c.76398T>A (p.Tyr25466Ter)
c.50292T>A (p.Tyr16764Ter)
c.50151T>A (p.Tyr16717Ter)
c.76194T>A (p.Tyr25398Ter)
c.71592T>A (p.Tyr23864Ter)
c.71589T>A (p.Tyr23863Ter)
c.68631T>A (p.Tyr22877Ter)
c.50247T>A (p.Tyr16749Ter)
c.71742T>A (p.Tyr23914Ter)
c.71739T>A (p.Tyr23913Ter)
c.71172T>A (p.Tyr23724Ter)
c.68514T>A (p.Tyr22838Ter)
c.68433T>A (p.Tyr22811Ter)
c.50196T>A (p.Tyr16732Ter)
c.40050T>A (p.Tyr13350Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.178568832T>ACA349611356TTN,TTN-AS1c.69596A>T (p.Tyr23199Phe)
c.50681A>T (p.Tyr16894Phe)
c.50480A>T (p.Tyr16827Phe)
c.50105A>T (p.Tyr16702Phe)
c.77300A>T (p.Tyr25767Phe)
c.72377A>T (p.Tyr24126Phe)
n.447-2468T>A
n.2044-13740T>A
c.76397A>T (p.Tyr25466Phe)
c.50291A>T (p.Tyr16764Phe)
c.50150A>T (p.Tyr16717Phe)
c.76193A>T (p.Tyr25398Phe)
c.71591A>T (p.Tyr23864Phe)
c.71588A>T (p.Tyr23863Phe)
c.68630A>T (p.Tyr22877Phe)
c.50246A>T (p.Tyr16749Phe)
c.71741A>T (p.Tyr23914Phe)
c.71738A>T (p.Tyr23913Phe)
c.71171A>T (p.Tyr23724Phe)
c.68513A>T (p.Tyr22838Phe)
c.68432A>T (p.Tyr22811Phe)
c.50195A>T (p.Tyr16732Phe)
c.40049A>T (p.Tyr13350Phe)
2g.178568832T>CCA349611358TTN,TTN-AS1c.69596A>G (p.Tyr23199Cys)
c.50681A>G (p.Tyr16894Cys)
c.50480A>G (p.Tyr16827Cys)
c.50105A>G (p.Tyr16702Cys)
c.77300A>G (p.Tyr25767Cys)
c.72377A>G (p.Tyr24126Cys)
n.447-2468T>C
n.2044-13740T>C
c.76397A>G (p.Tyr25466Cys)
c.50291A>G (p.Tyr16764Cys)
c.50150A>G (p.Tyr16717Cys)
c.76193A>G (p.Tyr25398Cys)
c.71591A>G (p.Tyr23864Cys)
c.71588A>G (p.Tyr23863Cys)
c.68630A>G (p.Tyr22877Cys)
c.50246A>G (p.Tyr16749Cys)
c.71741A>G (p.Tyr23914Cys)
c.71738A>G (p.Tyr23913Cys)
c.71171A>G (p.Tyr23724Cys)
c.68513A>G (p.Tyr22838Cys)
c.68432A>G (p.Tyr22811Cys)
c.50195A>G (p.Tyr16732Cys)
c.40049A>G (p.Tyr13350Cys)
2g.178568832T>GCA349611361TTN,TTN-AS1c.69596A>C (p.Tyr23199Ser)
c.50681A>C (p.Tyr16894Ser)
c.50480A>C (p.Tyr16827Ser)
c.50105A>C (p.Tyr16702Ser)
c.77300A>C (p.Tyr25767Ser)
c.72377A>C (p.Tyr24126Ser)
n.447-2468T>G
n.2044-13740T>G
c.76397A>C (p.Tyr25466Ser)
c.50291A>C (p.Tyr16764Ser)
c.50150A>C (p.Tyr16717Ser)
c.76193A>C (p.Tyr25398Ser)
c.71591A>C (p.Tyr23864Ser)
c.71588A>C (p.Tyr23863Ser)
c.68630A>C (p.Tyr22877Ser)
c.50246A>C (p.Tyr16749Ser)
c.71741A>C (p.Tyr23914Ser)
c.71738A>C (p.Tyr23913Ser)
c.71171A>C (p.Tyr23724Ser)
c.68513A>C (p.Tyr22838Ser)
c.68432A>C (p.Tyr22811Ser)
c.50195A>C (p.Tyr16732Ser)
c.40049A>C (p.Tyr13350Ser)
2g.178568833A=CA1310530733TTN,TTN-AS1c.69595T= (p.Tyr23199=)
c.50680T= (p.Tyr16894=)
c.50479T= (p.Tyr16827=)
c.50104T= (p.Tyr16702=)
c.77299T= (p.Tyr25767=)
c.72376T= (p.Tyr24126=)
n.447-2467A=
n.2044-13739A=
c.76396T= (p.Tyr25466=)
c.50290T= (p.Tyr16764=)
c.50149T= (p.Tyr16717=)
c.76192T= (p.Tyr25398=)
c.71590T= (p.Tyr23864=)
c.71587T= (p.Tyr23863=)
c.68629T= (p.Tyr22877=)
c.50245T= (p.Tyr16749=)
c.71740T= (p.Tyr23914=)
c.71737T= (p.Tyr23913=)
c.71170T= (p.Tyr23724=)
c.68512T= (p.Tyr22838=)
c.68431T= (p.Tyr22811=)
c.50194T= (p.Tyr16732=)
c.40048T= (p.Tyr13350=)
2g.178568833A>CCA349611363TTN,TTN-AS1c.69595T>G (p.Tyr23199Asp)
c.50680T>G (p.Tyr16894Asp)
c.50479T>G (p.Tyr16827Asp)
c.50104T>G (p.Tyr16702Asp)
c.77299T>G (p.Tyr25767Asp)
c.72376T>G (p.Tyr24126Asp)
n.447-2467A>C
n.2044-13739A>C
c.76396T>G (p.Tyr25466Asp)
c.50290T>G (p.Tyr16764Asp)
c.50149T>G (p.Tyr16717Asp)
c.76192T>G (p.Tyr25398Asp)
c.71590T>G (p.Tyr23864Asp)
c.71587T>G (p.Tyr23863Asp)
c.68629T>G (p.Tyr22877Asp)
c.50245T>G (p.Tyr16749Asp)
c.71740T>G (p.Tyr23914Asp)
c.71737T>G (p.Tyr23913Asp)
c.71170T>G (p.Tyr23724Asp)
c.68512T>G (p.Tyr22838Asp)
c.68431T>G (p.Tyr22811Asp)
c.50194T>G (p.Tyr16732Asp)
c.40048T>G (p.Tyr13350Asp)
2g.178568833A>GCA349611366TTN,TTN-AS1c.69595T>C (p.Tyr23199His)
c.50680T>C (p.Tyr16894His)
c.50479T>C (p.Tyr16827His)
c.50104T>C (p.Tyr16702His)
c.77299T>C (p.Tyr25767His)
c.72376T>C (p.Tyr24126His)
n.447-2467A>G
n.2044-13739A>G
c.76396T>C (p.Tyr25466His)
c.50290T>C (p.Tyr16764His)
c.50149T>C (p.Tyr16717His)
c.76192T>C (p.Tyr25398His)
c.71590T>C (p.Tyr23864His)
c.71587T>C (p.Tyr23863His)
c.68629T>C (p.Tyr22877His)
c.50245T>C (p.Tyr16749His)
c.71740T>C (p.Tyr23914His)
c.71737T>C (p.Tyr23913His)
c.71170T>C (p.Tyr23724His)
c.68512T>C (p.Tyr22838His)
c.68431T>C (p.Tyr22811His)
c.50194T>C (p.Tyr16732His)
c.40048T>C (p.Tyr13350His)
2g.178568833A>TCA349611368TTN,TTN-AS1c.69595T>A (p.Tyr23199Asn)
c.50680T>A (p.Tyr16894Asn)
c.50479T>A (p.Tyr16827Asn)
c.50104T>A (p.Tyr16702Asn)
c.77299T>A (p.Tyr25767Asn)
c.72376T>A (p.Tyr24126Asn)
n.447-2467A>T
n.2044-13739A>T
c.76396T>A (p.Tyr25466Asn)
c.50290T>A (p.Tyr16764Asn)
c.50149T>A (p.Tyr16717Asn)
c.76192T>A (p.Tyr25398Asn)
c.71590T>A (p.Tyr23864Asn)
c.71587T>A (p.Tyr23863Asn)
c.68629T>A (p.Tyr22877Asn)
c.50245T>A (p.Tyr16749Asn)
c.71740T>A (p.Tyr23914Asn)
c.71737T>A (p.Tyr23913Asn)
c.71170T>A (p.Tyr23724Asn)
c.68512T>A (p.Tyr22838Asn)
c.68431T>A (p.Tyr22811Asn)
c.50194T>A (p.Tyr16732Asn)
c.40048T>A (p.Tyr13350Asn)
 ClinVar dbSNP gnomAD v4
2g.178568833dupCA2586965267TTN,TTN-AS1c.69595dup (p.Tyr23199LeufsTer4)
c.50680dup (p.Tyr16894LeufsTer4)
c.50479dup (p.Tyr16827LeufsTer4)
c.50104dup (p.Tyr16702LeufsTer4)
c.77299dup (p.Tyr25767LeufsTer4)
c.72376dup (p.Tyr24126LeufsTer4)
n.447-2467dup
n.2044-13739dup
c.76396dup (p.Tyr25466LeufsTer4)
c.50290dup (p.Tyr16764LeufsTer4)
c.50149dup (p.Tyr16717LeufsTer4)
c.76192dup (p.Tyr25398LeufsTer4)
c.71590dup (p.Tyr23864LeufsTer4)
c.71587dup (p.Tyr23863LeufsTer4)
c.68629dup (p.Tyr22877LeufsTer4)
c.50245dup (p.Tyr16749LeufsTer4)
c.71740dup (p.Tyr23914LeufsTer4)
c.71737dup (p.Tyr23913LeufsTer4)
c.71170dup (p.Tyr23724LeufsTer4)
c.68512dup (p.Tyr22838LeufsTer4)
c.68431dup (p.Tyr22811LeufsTer4)
c.50194dup (p.Tyr16732LeufsTer4)
c.40048dup (p.Tyr13350LeufsTer4)
 ClinVar
2g.178568834T>ACA349611372TTN,TTN-AS1c.69594A>T (p.Glu23198Asp)
c.50679A>T (p.Glu16893Asp)
c.50478A>T (p.Glu16826Asp)
c.50103A>T (p.Glu16701Asp)
c.77298A>T (p.Glu25766Asp)
c.72375A>T (p.Glu24125Asp)
n.447-2466T>A
n.2044-13738T>A
c.76395A>T (p.Glu25465Asp)
c.50289A>T (p.Glu16763Asp)
c.50148A>T (p.Glu16716Asp)
c.76191A>T (p.Glu25397Asp)
c.71589A>T (p.Glu23863Asp)
c.71586A>T (p.Glu23862Asp)
c.68628A>T (p.Glu22876Asp)
c.50244A>T (p.Glu16748Asp)
c.71739A>T (p.Glu23913Asp)
c.71736A>T (p.Glu23912Asp)
c.71169A>T (p.Glu23723Asp)
c.68511A>T (p.Glu22837Asp)
c.68430A>T (p.Glu22810Asp)
c.50193A>T (p.Glu16731Asp)
c.40047A>T (p.Glu13349Asp)
2g.178568834T>CCA430253815TTN,TTN-AS1c.69594A>G (p.Glu23198=)
c.50679A>G (p.Glu16893=)
c.50478A>G (p.Glu16826=)
c.50103A>G (p.Glu16701=)
c.77298A>G (p.Glu25766=)
c.72375A>G (p.Glu24125=)
n.447-2466T>C
n.2044-13738T>C
c.76395A>G (p.Glu25465=)
c.50289A>G (p.Glu16763=)
c.50148A>G (p.Glu16716=)
c.76191A>G (p.Glu25397=)
c.71589A>G (p.Glu23863=)
c.71586A>G (p.Glu23862=)
c.68628A>G (p.Glu22876=)
c.50244A>G (p.Glu16748=)
c.71739A>G (p.Glu23913=)
c.71736A>G (p.Glu23912=)
c.71169A>G (p.Glu23723=)
c.68511A>G (p.Glu22837=)
c.68430A>G (p.Glu22810=)
c.50193A>G (p.Glu16731=)
c.40047A>G (p.Glu13349=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178568834T>GCA349611373TTN,TTN-AS1c.69594A>C (p.Glu23198Asp)
c.50679A>C (p.Glu16893Asp)
c.50478A>C (p.Glu16826Asp)
c.50103A>C (p.Glu16701Asp)
c.77298A>C (p.Glu25766Asp)
c.72375A>C (p.Glu24125Asp)
n.447-2466T>G
n.2044-13738T>G
c.76395A>C (p.Glu25465Asp)
c.50289A>C (p.Glu16763Asp)
c.50148A>C (p.Glu16716Asp)
c.76191A>C (p.Glu25397Asp)
c.71589A>C (p.Glu23863Asp)
c.71586A>C (p.Glu23862Asp)
c.68628A>C (p.Glu22876Asp)
c.50244A>C (p.Glu16748Asp)
c.71739A>C (p.Glu23913Asp)
c.71736A>C (p.Glu23912Asp)
c.71169A>C (p.Glu23723Asp)
c.68511A>C (p.Glu22837Asp)
c.68430A>C (p.Glu22810Asp)
c.50193A>C (p.Glu16731Asp)
c.40047A>C (p.Glu13349Asp)
 dbSNP
2g.178568834T=CA1310530738TTN,TTN-AS1c.69594A= (p.Glu23198=)
c.50679A= (p.Glu16893=)
c.50478A= (p.Glu16826=)
c.50103A= (p.Glu16701=)
c.77298A= (p.Glu25766=)
c.72375A= (p.Glu24125=)
n.447-2466T=
n.2044-13738T=
c.76395A= (p.Glu25465=)
c.50289A= (p.Glu16763=)
c.50148A= (p.Glu16716=)
c.76191A= (p.Glu25397=)
c.71589A= (p.Glu23863=)
c.71586A= (p.Glu23862=)
c.68628A= (p.Glu22876=)
c.50244A= (p.Glu16748=)
c.71739A= (p.Glu23913=)
c.71736A= (p.Glu23912=)
c.71169A= (p.Glu23723=)
c.68511A= (p.Glu22837=)
c.68430A= (p.Glu22810=)
c.50193A= (p.Glu16731=)
c.40047A= (p.Glu13349=)
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)

Number of alleles fetched