Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178584478_178584480delCA2577170668TTN,TTN-AS1c.57370_57372del (p.Ile19124del)
c.38455_38457del (p.Ile12819del)
c.38254_38256del (p.Ile12752del)
c.37879_37881del (p.Ile12627del)
c.65074_65076del (p.Ile21692del)
c.60151_60153del (p.Ile20051del)
n.596+13029_596+13031del
n.2768-95_2768-93del
c.64171_64173del (p.Ile21391del)
c.38065_38067del (p.Ile12689del)
c.37924_37926del (p.Ile12642del)
c.63967_63969del (p.Ile21323del)
c.59365_59367del (p.Ile19789del)
c.59362_59364del (p.Ile19788del)
c.56404_56406del (p.Ile18802del)
c.38020_38022del (p.Ile12674del)
c.59515_59517del (p.Ile19839del)
c.59512_59514del (p.Ile19838del)
c.58945_58947del (p.Ile19649del)
c.56287_56289del (p.Ile18763del)
c.56206_56208del (p.Ile18736del)
c.37969_37971del (p.Ile12657del)
c.27823_27825del (p.Ile9275del)
2g.178584477T>ACA349435447TTN,TTN-AS1c.57370A>T (p.Ile19124Phe)
c.38455A>T (p.Ile12819Phe)
c.38254A>T (p.Ile12752Phe)
c.37879A>T (p.Ile12627Phe)
c.65074A>T (p.Ile21692Phe)
c.60151A>T (p.Ile20051Phe)
n.596+13028T>A
n.2768-96T>A
c.64171A>T (p.Ile21391Phe)
c.38065A>T (p.Ile12689Phe)
c.37924A>T (p.Ile12642Phe)
c.63967A>T (p.Ile21323Phe)
c.59365A>T (p.Ile19789Phe)
c.59362A>T (p.Ile19788Phe)
c.56404A>T (p.Ile18802Phe)
c.38020A>T (p.Ile12674Phe)
c.59515A>T (p.Ile19839Phe)
c.59512A>T (p.Ile19838Phe)
c.58945A>T (p.Ile19649Phe)
c.56287A>T (p.Ile18763Phe)
c.56206A>T (p.Ile18736Phe)
c.37969A>T (p.Ile12657Phe)
c.27823A>T (p.Ile9275Phe)
2g.178584477T>CCA1991785TTN,TTN-AS1c.57370A>G (p.Ile19124Val)
c.38455A>G (p.Ile12819Val)
c.38254A>G (p.Ile12752Val)
c.37879A>G (p.Ile12627Val)
c.65074A>G (p.Ile21692Val)
c.60151A>G (p.Ile20051Val)
n.596+13028T>C
n.2768-96T>C
c.64171A>G (p.Ile21391Val)
c.38065A>G (p.Ile12689Val)
c.37924A>G (p.Ile12642Val)
c.63967A>G (p.Ile21323Val)
c.59365A>G (p.Ile19789Val)
c.59362A>G (p.Ile19788Val)
c.56404A>G (p.Ile18802Val)
c.38020A>G (p.Ile12674Val)
c.59515A>G (p.Ile19839Val)
c.59512A>G (p.Ile19838Val)
c.58945A>G (p.Ile19649Val)
c.56287A>G (p.Ile18763Val)
c.56206A>G (p.Ile18736Val)
c.37969A>G (p.Ile12657Val)
c.27823A>G (p.Ile9275Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178584477T>GCA349435451TTN,TTN-AS1c.57370A>C (p.Ile19124Leu)
c.38455A>C (p.Ile12819Leu)
c.38254A>C (p.Ile12752Leu)
c.37879A>C (p.Ile12627Leu)
c.65074A>C (p.Ile21692Leu)
c.60151A>C (p.Ile20051Leu)
n.596+13028T>G
n.2768-96T>G
c.64171A>C (p.Ile21391Leu)
c.38065A>C (p.Ile12689Leu)
c.37924A>C (p.Ile12642Leu)
c.63967A>C (p.Ile21323Leu)
c.59365A>C (p.Ile19789Leu)
c.59362A>C (p.Ile19788Leu)
c.56404A>C (p.Ile18802Leu)
c.38020A>C (p.Ile12674Leu)
c.59515A>C (p.Ile19839Leu)
c.59512A>C (p.Ile19838Leu)
c.58945A>C (p.Ile19649Leu)
c.56287A>C (p.Ile18763Leu)
c.56206A>C (p.Ile18736Leu)
c.37969A>C (p.Ile12657Leu)
c.27823A>C (p.Ile9275Leu)
2g.178584477T=CA1310537030TTN,TTN-AS1c.57370A= (p.Ile19124=)
c.38455A= (p.Ile12819=)
c.38254A= (p.Ile12752=)
c.37879A= (p.Ile12627=)
c.65074A= (p.Ile21692=)
c.60151A= (p.Ile20051=)
n.596+13028T=
n.2768-96T=
c.64171A= (p.Ile21391=)
c.38065A= (p.Ile12689=)
c.37924A= (p.Ile12642=)
c.63967A= (p.Ile21323=)
c.59365A= (p.Ile19789=)
c.59362A= (p.Ile19788=)
c.56404A= (p.Ile18802=)
c.38020A= (p.Ile12674=)
c.59515A= (p.Ile19839=)
c.59512A= (p.Ile19838=)
c.58945A= (p.Ile19649=)
c.56287A= (p.Ile18763=)
c.56206A= (p.Ile18736=)
c.37969A= (p.Ile12657=)
c.27823A= (p.Ile9275=)
2g.178584478A>CCA349435453TTN,TTN-AS1c.57369T>G (p.Ile19123Met)
c.38454T>G (p.Ile12818Met)
c.38253T>G (p.Ile12751Met)
c.37878T>G (p.Ile12626Met)
c.65073T>G (p.Ile21691Met)
c.60150T>G (p.Ile20050Met)
n.596+13029A>C
n.2768-95A>C
c.64170T>G (p.Ile21390Met)
c.38064T>G (p.Ile12688Met)
c.37923T>G (p.Ile12641Met)
c.63966T>G (p.Ile21322Met)
c.59364T>G (p.Ile19788Met)
c.59361T>G (p.Ile19787Met)
c.56403T>G (p.Ile18801Met)
c.38019T>G (p.Ile12673Met)
c.59514T>G (p.Ile19838Met)
c.59511T>G (p.Ile19837Met)
c.58944T>G (p.Ile19648Met)
c.56286T>G (p.Ile18762Met)
c.56205T>G (p.Ile18735Met)
c.37968T>G (p.Ile12656Met)
c.27822T>G (p.Ile9274Met)
2g.178584478A>GCA430263237TTN,TTN-AS1c.57369T>C (p.Ile19123=)
c.38454T>C (p.Ile12818=)
c.38253T>C (p.Ile12751=)
c.37878T>C (p.Ile12626=)
c.65073T>C (p.Ile21691=)
c.60150T>C (p.Ile20050=)
n.596+13029A>G
n.2768-95A>G
c.64170T>C (p.Ile21390=)
c.38064T>C (p.Ile12688=)
c.37923T>C (p.Ile12641=)
c.63966T>C (p.Ile21322=)
c.59364T>C (p.Ile19788=)
c.59361T>C (p.Ile19787=)
c.56403T>C (p.Ile18801=)
c.38019T>C (p.Ile12673=)
c.59514T>C (p.Ile19838=)
c.59511T>C (p.Ile19837=)
c.58944T>C (p.Ile19648=)
c.56286T>C (p.Ile18762=)
c.56205T>C (p.Ile18735=)
c.37968T>C (p.Ile12656=)
c.27822T>C (p.Ile9274=)
2g.178584478A>TCA430263238TTN,TTN-AS1c.57369T>A (p.Ile19123=)
c.38454T>A (p.Ile12818=)
c.38253T>A (p.Ile12751=)
c.37878T>A (p.Ile12626=)
c.65073T>A (p.Ile21691=)
c.60150T>A (p.Ile20050=)
n.596+13029A>T
n.2768-95A>T
c.64170T>A (p.Ile21390=)
c.38064T>A (p.Ile12688=)
c.37923T>A (p.Ile12641=)
c.63966T>A (p.Ile21322=)
c.59364T>A (p.Ile19788=)
c.59361T>A (p.Ile19787=)
c.56403T>A (p.Ile18801=)
c.38019T>A (p.Ile12673=)
c.59514T>A (p.Ile19838=)
c.59511T>A (p.Ile19837=)
c.58944T>A (p.Ile19648=)
c.56286T>A (p.Ile18762=)
c.56205T>A (p.Ile18735=)
c.37968T>A (p.Ile12656=)
c.27822T>A (p.Ile9274=)
2g.178584479A=CA1310537031TTN,TTN-AS1c.57368T= (p.Ile19123=)
c.38453T= (p.Ile12818=)
c.38252T= (p.Ile12751=)
c.37877T= (p.Ile12626=)
c.65072T= (p.Ile21691=)
c.60149T= (p.Ile20050=)
n.596+13030A=
n.2768-94A=
c.64169T= (p.Ile21390=)
c.38063T= (p.Ile12688=)
c.37922T= (p.Ile12641=)
c.63965T= (p.Ile21322=)
c.59363T= (p.Ile19788=)
c.59360T= (p.Ile19787=)
c.56402T= (p.Ile18801=)
c.38018T= (p.Ile12673=)
c.59513T= (p.Ile19838=)
c.59510T= (p.Ile19837=)
c.58943T= (p.Ile19648=)
c.56285T= (p.Ile18762=)
c.56204T= (p.Ile18735=)
c.37967T= (p.Ile12656=)
c.27821T= (p.Ile9274=)
2g.178584479A>CCA349435456TTN,TTN-AS1c.57368T>G (p.Ile19123Ser)
c.38453T>G (p.Ile12818Ser)
c.38252T>G (p.Ile12751Ser)
c.37877T>G (p.Ile12626Ser)
c.65072T>G (p.Ile21691Ser)
c.60149T>G (p.Ile20050Ser)
n.596+13030A>C
n.2768-94A>C
c.64169T>G (p.Ile21390Ser)
c.38063T>G (p.Ile12688Ser)
c.37922T>G (p.Ile12641Ser)
c.63965T>G (p.Ile21322Ser)
c.59363T>G (p.Ile19788Ser)
c.59360T>G (p.Ile19787Ser)
c.56402T>G (p.Ile18801Ser)
c.38018T>G (p.Ile12673Ser)
c.59513T>G (p.Ile19838Ser)
c.59510T>G (p.Ile19837Ser)
c.58943T>G (p.Ile19648Ser)
c.56285T>G (p.Ile18762Ser)
c.56204T>G (p.Ile18735Ser)
c.37967T>G (p.Ile12656Ser)
c.27821T>G (p.Ile9274Ser)
 dbSNP
2g.178584479A>GCA16610321TTN,TTN-AS1c.57368T>C (p.Ile19123Thr)
c.38453T>C (p.Ile12818Thr)
c.38252T>C (p.Ile12751Thr)
c.37877T>C (p.Ile12626Thr)
c.65072T>C (p.Ile21691Thr)
c.60149T>C (p.Ile20050Thr)
n.596+13030A>G
n.2768-94A>G
c.64169T>C (p.Ile21390Thr)
c.38063T>C (p.Ile12688Thr)
c.37922T>C (p.Ile12641Thr)
c.63965T>C (p.Ile21322Thr)
c.59363T>C (p.Ile19788Thr)
c.59360T>C (p.Ile19787Thr)
c.56402T>C (p.Ile18801Thr)
c.38018T>C (p.Ile12673Thr)
c.59513T>C (p.Ile19838Thr)
c.59510T>C (p.Ile19837Thr)
c.58943T>C (p.Ile19648Thr)
c.56285T>C (p.Ile18762Thr)
c.56204T>C (p.Ile18735Thr)
c.37967T>C (p.Ile12656Thr)
c.27821T>C (p.Ile9274Thr)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178584479A>TCA349435458TTN,TTN-AS1c.57368T>A (p.Ile19123Asn)
c.38453T>A (p.Ile12818Asn)
c.38252T>A (p.Ile12751Asn)
c.37877T>A (p.Ile12626Asn)
c.65072T>A (p.Ile21691Asn)
c.60149T>A (p.Ile20050Asn)
n.596+13030A>T
n.2768-94A>T
c.64169T>A (p.Ile21390Asn)
c.38063T>A (p.Ile12688Asn)
c.37922T>A (p.Ile12641Asn)
c.63965T>A (p.Ile21322Asn)
c.59363T>A (p.Ile19788Asn)
c.59360T>A (p.Ile19787Asn)
c.56402T>A (p.Ile18801Asn)
c.38018T>A (p.Ile12673Asn)
c.59513T>A (p.Ile19838Asn)
c.59510T>A (p.Ile19837Asn)
c.58943T>A (p.Ile19648Asn)
c.56285T>A (p.Ile18762Asn)
c.56204T>A (p.Ile18735Asn)
c.37967T>A (p.Ile12656Asn)
c.27821T>A (p.Ile9274Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178584480T>ACA349435461TTN,TTN-AS1c.57367A>T (p.Ile19123Phe)
c.38452A>T (p.Ile12818Phe)
c.38251A>T (p.Ile12751Phe)
c.37876A>T (p.Ile12626Phe)
c.65071A>T (p.Ile21691Phe)
c.60148A>T (p.Ile20050Phe)
n.596+13031T>A
n.2768-93T>A
c.64168A>T (p.Ile21390Phe)
c.38062A>T (p.Ile12688Phe)
c.37921A>T (p.Ile12641Phe)
c.63964A>T (p.Ile21322Phe)
c.59362A>T (p.Ile19788Phe)
c.59359A>T (p.Ile19787Phe)
c.56401A>T (p.Ile18801Phe)
c.38017A>T (p.Ile12673Phe)
c.59512A>T (p.Ile19838Phe)
c.59509A>T (p.Ile19837Phe)
c.58942A>T (p.Ile19648Phe)
c.56284A>T (p.Ile18762Phe)
c.56203A>T (p.Ile18735Phe)
c.37966A>T (p.Ile12656Phe)
c.27820A>T (p.Ile9274Phe)
2g.178584480T>CCA349435462TTN,TTN-AS1c.57367A>G (p.Ile19123Val)
c.38452A>G (p.Ile12818Val)
c.38251A>G (p.Ile12751Val)
c.37876A>G (p.Ile12626Val)
c.65071A>G (p.Ile21691Val)
c.60148A>G (p.Ile20050Val)
n.596+13031T>C
n.2768-93T>C
c.64168A>G (p.Ile21390Val)
c.38062A>G (p.Ile12688Val)
c.37921A>G (p.Ile12641Val)
c.63964A>G (p.Ile21322Val)
c.59362A>G (p.Ile19788Val)
c.59359A>G (p.Ile19787Val)
c.56401A>G (p.Ile18801Val)
c.38017A>G (p.Ile12673Val)
c.59512A>G (p.Ile19838Val)
c.59509A>G (p.Ile19837Val)
c.58942A>G (p.Ile19648Val)
c.56284A>G (p.Ile18762Val)
c.56203A>G (p.Ile18735Val)
c.37966A>G (p.Ile12656Val)
c.27820A>G (p.Ile9274Val)
 dbSNP
2g.178584480T>GCA349435464TTN,TTN-AS1c.57367A>C (p.Ile19123Leu)
c.38452A>C (p.Ile12818Leu)
c.38251A>C (p.Ile12751Leu)
c.37876A>C (p.Ile12626Leu)
c.65071A>C (p.Ile21691Leu)
c.60148A>C (p.Ile20050Leu)
n.596+13031T>G
n.2768-93T>G
c.64168A>C (p.Ile21390Leu)
c.38062A>C (p.Ile12688Leu)
c.37921A>C (p.Ile12641Leu)
c.63964A>C (p.Ile21322Leu)
c.59362A>C (p.Ile19788Leu)
c.59359A>C (p.Ile19787Leu)
c.56401A>C (p.Ile18801Leu)
c.38017A>C (p.Ile12673Leu)
c.59512A>C (p.Ile19838Leu)
c.59509A>C (p.Ile19837Leu)
c.58942A>C (p.Ile19648Leu)
c.56284A>C (p.Ile18762Leu)
c.56203A>C (p.Ile18735Leu)
c.37966A>C (p.Ile12656Leu)
c.27820A>C (p.Ile9274Leu)
2g.178584480T=CA1310537032TTN,TTN-AS1c.57367A= (p.Ile19123=)
c.38452A= (p.Ile12818=)
c.38251A= (p.Ile12751=)
c.37876A= (p.Ile12626=)
c.65071A= (p.Ile21691=)
c.60148A= (p.Ile20050=)
n.596+13031T=
n.2768-93T=
c.64168A= (p.Ile21390=)
c.38062A= (p.Ile12688=)
c.37921A= (p.Ile12641=)
c.63964A= (p.Ile21322=)
c.59362A= (p.Ile19788=)
c.59359A= (p.Ile19787=)
c.56401A= (p.Ile18801=)
c.38017A= (p.Ile12673=)
c.59512A= (p.Ile19838=)
c.59509A= (p.Ile19837=)
c.58942A= (p.Ile19648=)
c.56284A= (p.Ile18762=)
c.56203A= (p.Ile18735=)
c.37966A= (p.Ile12656=)
c.27820A= (p.Ile9274=)
2g.178584481G>ACA430263244TTN,TTN-AS1c.57366C>T (p.Pro19122=)
c.38451C>T (p.Pro12817=)
c.38250C>T (p.Pro12750=)
c.37875C>T (p.Pro12625=)
c.65070C>T (p.Pro21690=)
c.60147C>T (p.Pro20049=)
n.596+13032G>A
n.2768-92G>A
c.64167C>T (p.Pro21389=)
c.38061C>T (p.Pro12687=)
c.37920C>T (p.Pro12640=)
c.63963C>T (p.Pro21321=)
c.59361C>T (p.Pro19787=)
c.59358C>T (p.Pro19786=)
c.56400C>T (p.Pro18800=)
c.38016C>T (p.Pro12672=)
c.59511C>T (p.Pro19837=)
c.59508C>T (p.Pro19836=)
c.58941C>T (p.Pro19647=)
c.56283C>T (p.Pro18761=)
c.56202C>T (p.Pro18734=)
c.37965C>T (p.Pro12655=)
c.27819C>T (p.Pro9273=)
2g.178584481G>CCA430263242TTN,TTN-AS1c.57366C>G (p.Pro19122=)
c.38451C>G (p.Pro12817=)
c.38250C>G (p.Pro12750=)
c.37875C>G (p.Pro12625=)
c.65070C>G (p.Pro21690=)
c.60147C>G (p.Pro20049=)
n.596+13032G>C
n.2768-92G>C
c.64167C>G (p.Pro21389=)
c.38061C>G (p.Pro12687=)
c.37920C>G (p.Pro12640=)
c.63963C>G (p.Pro21321=)
c.59361C>G (p.Pro19787=)
c.59358C>G (p.Pro19786=)
c.56400C>G (p.Pro18800=)
c.38016C>G (p.Pro12672=)
c.59511C>G (p.Pro19837=)
c.59508C>G (p.Pro19836=)
c.58941C>G (p.Pro19647=)
c.56283C>G (p.Pro18761=)
c.56202C>G (p.Pro18734=)
c.37965C>G (p.Pro12655=)
c.27819C>G (p.Pro9273=)
2g.178584481G=CA1310537033TTN,TTN-AS1c.57366C= (p.Pro19122=)
c.38451C= (p.Pro12817=)
c.38250C= (p.Pro12750=)
c.37875C= (p.Pro12625=)
c.65070C= (p.Pro21690=)
c.60147C= (p.Pro20049=)
n.596+13032G=
n.2768-92G=
c.64167C= (p.Pro21389=)
c.38061C= (p.Pro12687=)
c.37920C= (p.Pro12640=)
c.63963C= (p.Pro21321=)
c.59361C= (p.Pro19787=)
c.59358C= (p.Pro19786=)
c.56400C= (p.Pro18800=)
c.38016C= (p.Pro12672=)
c.59511C= (p.Pro19837=)
c.59508C= (p.Pro19836=)
c.58941C= (p.Pro19647=)
c.56283C= (p.Pro18761=)
c.56202C= (p.Pro18734=)
c.37965C= (p.Pro12655=)
c.27819C= (p.Pro9273=)
2g.178584481G>TCA430263243TTN,TTN-AS1c.57366C>A (p.Pro19122=)
c.38451C>A (p.Pro12817=)
c.38250C>A (p.Pro12750=)
c.37875C>A (p.Pro12625=)
c.65070C>A (p.Pro21690=)
c.60147C>A (p.Pro20049=)
n.596+13032G>T
n.2768-92G>T
c.64167C>A (p.Pro21389=)
c.38061C>A (p.Pro12687=)
c.37920C>A (p.Pro12640=)
c.63963C>A (p.Pro21321=)
c.59361C>A (p.Pro19787=)
c.59358C>A (p.Pro19786=)
c.56400C>A (p.Pro18800=)
c.38016C>A (p.Pro12672=)
c.59511C>A (p.Pro19837=)
c.59508C>A (p.Pro19836=)
c.58941C>A (p.Pro19647=)
c.56283C>A (p.Pro18761=)
c.56202C>A (p.Pro18734=)
c.37965C>A (p.Pro12655=)
c.27819C>A (p.Pro9273=)
 dbSNP
2g.178584484delCA2586970768TTN,TTN-AS1c.57366del (p.Ile19123LeufsTer5)
c.38451del (p.Ile12818LeufsTer5)
c.38250del (p.Ile12751LeufsTer5)
c.37875del (p.Ile12626LeufsTer5)
c.65070del (p.Ile21691LeufsTer5)
c.60147del (p.Ile20050LeufsTer5)
n.596+13035del
n.2768-89del
c.64167del (p.Ile21390LeufsTer5)
c.38061del (p.Ile12688LeufsTer5)
c.37920del (p.Ile12641LeufsTer5)
c.63963del (p.Ile21322LeufsTer5)
c.59361del (p.Ile19788LeufsTer5)
c.59358del (p.Ile19787LeufsTer5)
c.56400del (p.Ile18801LeufsTer5)
c.38016del (p.Ile12673LeufsTer5)
c.59511del (p.Ile19838LeufsTer5)
c.59508del (p.Ile19837LeufsTer5)
c.58941del (p.Ile19648LeufsTer5)
c.56283del (p.Ile18762LeufsTer5)
c.56202del (p.Ile18735LeufsTer5)
c.37965del (p.Ile12656LeufsTer5)
c.27819del (p.Ile9274LeufsTer5)
2g.178584482G>ACA349435467TTN,TTN-AS1c.57365C>T (p.Pro19122Leu)
c.38450C>T (p.Pro12817Leu)
c.38249C>T (p.Pro12750Leu)
c.37874C>T (p.Pro12625Leu)
c.65069C>T (p.Pro21690Leu)
c.60146C>T (p.Pro20049Leu)
n.596+13033G>A
n.2768-91G>A
c.64166C>T (p.Pro21389Leu)
c.38060C>T (p.Pro12687Leu)
c.37919C>T (p.Pro12640Leu)
c.63962C>T (p.Pro21321Leu)
c.59360C>T (p.Pro19787Leu)
c.59357C>T (p.Pro19786Leu)
c.56399C>T (p.Pro18800Leu)
c.38015C>T (p.Pro12672Leu)
c.59510C>T (p.Pro19837Leu)
c.59507C>T (p.Pro19836Leu)
c.58940C>T (p.Pro19647Leu)
c.56282C>T (p.Pro18761Leu)
c.56201C>T (p.Pro18734Leu)
c.37964C>T (p.Pro12655Leu)
c.27818C>T (p.Pro9273Leu)
 dbSNP gnomAD v4
2g.178584482G>CCA349435470TTN,TTN-AS1c.57365C>G (p.Pro19122Arg)
c.38450C>G (p.Pro12817Arg)
c.38249C>G (p.Pro12750Arg)
c.37874C>G (p.Pro12625Arg)
c.65069C>G (p.Pro21690Arg)
c.60146C>G (p.Pro20049Arg)
n.596+13033G>C
n.2768-91G>C
c.64166C>G (p.Pro21389Arg)
c.38060C>G (p.Pro12687Arg)
c.37919C>G (p.Pro12640Arg)
c.63962C>G (p.Pro21321Arg)
c.59360C>G (p.Pro19787Arg)
c.59357C>G (p.Pro19786Arg)
c.56399C>G (p.Pro18800Arg)
c.38015C>G (p.Pro12672Arg)
c.59510C>G (p.Pro19837Arg)
c.59507C>G (p.Pro19836Arg)
c.58940C>G (p.Pro19647Arg)
c.56282C>G (p.Pro18761Arg)
c.56201C>G (p.Pro18734Arg)
c.37964C>G (p.Pro12655Arg)
c.27818C>G (p.Pro9273Arg)
2g.178584482G=CA1310537034TTN,TTN-AS1c.57365C= (p.Pro19122=)
c.38450C= (p.Pro12817=)
c.38249C= (p.Pro12750=)
c.37874C= (p.Pro12625=)
c.65069C= (p.Pro21690=)
c.60146C= (p.Pro20049=)
n.596+13033G=
n.2768-91G=
c.64166C= (p.Pro21389=)
c.38060C= (p.Pro12687=)
c.37919C= (p.Pro12640=)
c.63962C= (p.Pro21321=)
c.59360C= (p.Pro19787=)
c.59357C= (p.Pro19786=)
c.56399C= (p.Pro18800=)
c.38015C= (p.Pro12672=)
c.59510C= (p.Pro19837=)
c.59507C= (p.Pro19836=)
c.58940C= (p.Pro19647=)
c.56282C= (p.Pro18761=)
c.56201C= (p.Pro18734=)
c.37964C= (p.Pro12655=)
c.27818C= (p.Pro9273=)
2g.178584482G>TCA349435468TTN,TTN-AS1c.57365C>A (p.Pro19122His)
c.38450C>A (p.Pro12817His)
c.38249C>A (p.Pro12750His)
c.37874C>A (p.Pro12625His)
c.65069C>A (p.Pro21690His)
c.60146C>A (p.Pro20049His)
n.596+13033G>T
n.2768-91G>T
c.64166C>A (p.Pro21389His)
c.38060C>A (p.Pro12687His)
c.37919C>A (p.Pro12640His)
c.63962C>A (p.Pro21321His)
c.59360C>A (p.Pro19787His)
c.59357C>A (p.Pro19786His)
c.56399C>A (p.Pro18800His)
c.38015C>A (p.Pro12672His)
c.59510C>A (p.Pro19837His)
c.59507C>A (p.Pro19836His)
c.58940C>A (p.Pro19647His)
c.56282C>A (p.Pro18761His)
c.56201C>A (p.Pro18734His)
c.37964C>A (p.Pro12655His)
c.27818C>A (p.Pro9273His)
2g.178584483G>ACA349435472TTN,TTN-AS1c.57364C>T (p.Pro19122Ser)
c.38449C>T (p.Pro12817Ser)
c.38248C>T (p.Pro12750Ser)
c.37873C>T (p.Pro12625Ser)
c.65068C>T (p.Pro21690Ser)
c.60145C>T (p.Pro20049Ser)
n.596+13034G>A
n.2768-90G>A
c.64165C>T (p.Pro21389Ser)
c.38059C>T (p.Pro12687Ser)
c.37918C>T (p.Pro12640Ser)
c.63961C>T (p.Pro21321Ser)
c.59359C>T (p.Pro19787Ser)
c.59356C>T (p.Pro19786Ser)
c.56398C>T (p.Pro18800Ser)
c.38014C>T (p.Pro12672Ser)
c.59509C>T (p.Pro19837Ser)
c.59506C>T (p.Pro19836Ser)
c.58939C>T (p.Pro19647Ser)
c.56281C>T (p.Pro18761Ser)
c.56200C>T (p.Pro18734Ser)
c.37963C>T (p.Pro12655Ser)
c.27817C>T (p.Pro9273Ser)
 dbSNP gnomAD v4
2g.178584483G>CCA349435474TTN,TTN-AS1c.57364C>G (p.Pro19122Ala)
c.38449C>G (p.Pro12817Ala)
c.38248C>G (p.Pro12750Ala)
c.37873C>G (p.Pro12625Ala)
c.65068C>G (p.Pro21690Ala)
c.60145C>G (p.Pro20049Ala)
n.596+13034G>C
n.2768-90G>C
c.64165C>G (p.Pro21389Ala)
c.38059C>G (p.Pro12687Ala)
c.37918C>G (p.Pro12640Ala)
c.63961C>G (p.Pro21321Ala)
c.59359C>G (p.Pro19787Ala)
c.59356C>G (p.Pro19786Ala)
c.56398C>G (p.Pro18800Ala)
c.38014C>G (p.Pro12672Ala)
c.59509C>G (p.Pro19837Ala)
c.59506C>G (p.Pro19836Ala)
c.58939C>G (p.Pro19647Ala)
c.56281C>G (p.Pro18761Ala)
c.56200C>G (p.Pro18734Ala)
c.37963C>G (p.Pro12655Ala)
c.27817C>G (p.Pro9273Ala)
 gnomAD v4
2g.178584483G=CA1310537035TTN,TTN-AS1c.57364C= (p.Pro19122=)
c.38449C= (p.Pro12817=)
c.38248C= (p.Pro12750=)
c.37873C= (p.Pro12625=)
c.65068C= (p.Pro21690=)
c.60145C= (p.Pro20049=)
n.596+13034G=
n.2768-90G=
c.64165C= (p.Pro21389=)
c.38059C= (p.Pro12687=)
c.37918C= (p.Pro12640=)
c.63961C= (p.Pro21321=)
c.59359C= (p.Pro19787=)
c.59356C= (p.Pro19786=)
c.56398C= (p.Pro18800=)
c.38014C= (p.Pro12672=)
c.59509C= (p.Pro19837=)
c.59506C= (p.Pro19836=)
c.58939C= (p.Pro19647=)
c.56281C= (p.Pro18761=)
c.56200C= (p.Pro18734=)
c.37963C= (p.Pro12655=)
c.27817C= (p.Pro9273=)
2g.178584483G>TCA349435476TTN,TTN-AS1c.57364C>A (p.Pro19122Thr)
c.38449C>A (p.Pro12817Thr)
c.38248C>A (p.Pro12750Thr)
c.37873C>A (p.Pro12625Thr)
c.65068C>A (p.Pro21690Thr)
c.60145C>A (p.Pro20049Thr)
n.596+13034G>T
n.2768-90G>T
c.64165C>A (p.Pro21389Thr)
c.38059C>A (p.Pro12687Thr)
c.37918C>A (p.Pro12640Thr)
c.63961C>A (p.Pro21321Thr)
c.59359C>A (p.Pro19787Thr)
c.59356C>A (p.Pro19786Thr)
c.56398C>A (p.Pro18800Thr)
c.38014C>A (p.Pro12672Thr)
c.59509C>A (p.Pro19837Thr)
c.59506C>A (p.Pro19836Thr)
c.58939C>A (p.Pro19647Thr)
c.56281C>A (p.Pro18761Thr)
c.56200C>A (p.Pro18734Thr)
c.37963C>A (p.Pro12655Thr)
c.27817C>A (p.Pro9273Thr)
2g.178584484G>ACA430263248TTN,TTN-AS1c.57363C>T (p.Ser19121=)
c.38448C>T (p.Ser12816=)
c.38247C>T (p.Ser12749=)
c.37872C>T (p.Ser12624=)
c.65067C>T (p.Ser21689=)
c.60144C>T (p.Ser20048=)
n.596+13035G>A
n.2768-89G>A
c.64164C>T (p.Ser21388=)
c.38058C>T (p.Ser12686=)
c.37917C>T (p.Ser12639=)
c.63960C>T (p.Ser21320=)
c.59358C>T (p.Ser19786=)
c.59355C>T (p.Ser19785=)
c.56397C>T (p.Ser18799=)
c.38013C>T (p.Ser12671=)
c.59508C>T (p.Ser19836=)
c.59505C>T (p.Ser19835=)
c.58938C>T (p.Ser19646=)
c.56280C>T (p.Ser18760=)
c.56199C>T (p.Ser18733=)
c.37962C>T (p.Ser12654=)
c.27816C>T (p.Ser9272=)
2g.178584484G>CCA349435478TTN,TTN-AS1c.57363C>G (p.Ser19121Arg)
c.38448C>G (p.Ser12816Arg)
c.38247C>G (p.Ser12749Arg)
c.37872C>G (p.Ser12624Arg)
c.65067C>G (p.Ser21689Arg)
c.60144C>G (p.Ser20048Arg)
n.596+13035G>C
n.2768-89G>C
c.64164C>G (p.Ser21388Arg)
c.38058C>G (p.Ser12686Arg)
c.37917C>G (p.Ser12639Arg)
c.63960C>G (p.Ser21320Arg)
c.59358C>G (p.Ser19786Arg)
c.59355C>G (p.Ser19785Arg)
c.56397C>G (p.Ser18799Arg)
c.38013C>G (p.Ser12671Arg)
c.59508C>G (p.Ser19836Arg)
c.59505C>G (p.Ser19835Arg)
c.58938C>G (p.Ser19646Arg)
c.56280C>G (p.Ser18760Arg)
c.56199C>G (p.Ser18733Arg)
c.37962C>G (p.Ser12654Arg)
c.27816C>G (p.Ser9272Arg)
 dbSNP
2g.178584484G=CA1310537036TTN,TTN-AS1c.57363C= (p.Ser19121=)
c.38448C= (p.Ser12816=)
c.38247C= (p.Ser12749=)
c.37872C= (p.Ser12624=)
c.65067C= (p.Ser21689=)
c.60144C= (p.Ser20048=)
n.596+13035G=
n.2768-89G=
c.64164C= (p.Ser21388=)
c.38058C= (p.Ser12686=)
c.37917C= (p.Ser12639=)
c.63960C= (p.Ser21320=)
c.59358C= (p.Ser19786=)
c.59355C= (p.Ser19785=)
c.56397C= (p.Ser18799=)
c.38013C= (p.Ser12671=)
c.59508C= (p.Ser19836=)
c.59505C= (p.Ser19835=)
c.58938C= (p.Ser19646=)
c.56280C= (p.Ser18760=)
c.56199C= (p.Ser18733=)
c.37962C= (p.Ser12654=)
c.27816C= (p.Ser9272=)
2g.178584484G>TCA349435480TTN,TTN-AS1c.57363C>A (p.Ser19121Arg)
c.38448C>A (p.Ser12816Arg)
c.38247C>A (p.Ser12749Arg)
c.37872C>A (p.Ser12624Arg)
c.65067C>A (p.Ser21689Arg)
c.60144C>A (p.Ser20048Arg)
n.596+13035G>T
n.2768-89G>T
c.64164C>A (p.Ser21388Arg)
c.38058C>A (p.Ser12686Arg)
c.37917C>A (p.Ser12639Arg)
c.63960C>A (p.Ser21320Arg)
c.59358C>A (p.Ser19786Arg)
c.59355C>A (p.Ser19785Arg)
c.56397C>A (p.Ser18799Arg)
c.38013C>A (p.Ser12671Arg)
c.59508C>A (p.Ser19836Arg)
c.59505C>A (p.Ser19835Arg)
c.58938C>A (p.Ser19646Arg)
c.56280C>A (p.Ser18760Arg)
c.56199C>A (p.Ser18733Arg)
c.37962C>A (p.Ser12654Arg)
c.27816C>A (p.Ser9272Arg)
 ClinVar
2g.178584485C>ACA349435482TTN,TTN-AS1c.57362G>T (p.Ser19121Ile)
c.38447G>T (p.Ser12816Ile)
c.38246G>T (p.Ser12749Ile)
c.37871G>T (p.Ser12624Ile)
c.65066G>T (p.Ser21689Ile)
c.60143G>T (p.Ser20048Ile)
n.596+13036C>A
n.2768-88C>A
c.64163G>T (p.Ser21388Ile)
c.38057G>T (p.Ser12686Ile)
c.37916G>T (p.Ser12639Ile)
c.63959G>T (p.Ser21320Ile)
c.59357G>T (p.Ser19786Ile)
c.59354G>T (p.Ser19785Ile)
c.56396G>T (p.Ser18799Ile)
c.38012G>T (p.Ser12671Ile)
c.59507G>T (p.Ser19836Ile)
c.59504G>T (p.Ser19835Ile)
c.58937G>T (p.Ser19646Ile)
c.56279G>T (p.Ser18760Ile)
c.56198G>T (p.Ser18733Ile)
c.37961G>T (p.Ser12654Ile)
c.27815G>T (p.Ser9272Ile)
2g.178584485C=CA1310537037TTN,TTN-AS1c.57362G= (p.Ser19121=)
c.38447G= (p.Ser12816=)
c.38246G= (p.Ser12749=)
c.37871G= (p.Ser12624=)
c.65066G= (p.Ser21689=)
c.60143G= (p.Ser20048=)
n.596+13036C=
n.2768-88C=
c.64163G= (p.Ser21388=)
c.38057G= (p.Ser12686=)
c.37916G= (p.Ser12639=)
c.63959G= (p.Ser21320=)
c.59357G= (p.Ser19786=)
c.59354G= (p.Ser19785=)
c.56396G= (p.Ser18799=)
c.38012G= (p.Ser12671=)
c.59507G= (p.Ser19836=)
c.59504G= (p.Ser19835=)
c.58937G= (p.Ser19646=)
c.56279G= (p.Ser18760=)
c.56198G= (p.Ser18733=)
c.37961G= (p.Ser12654=)
c.27815G= (p.Ser9272=)
2g.178584485C>GCA349435484TTN,TTN-AS1c.57362G>C (p.Ser19121Thr)
c.38447G>C (p.Ser12816Thr)
c.38246G>C (p.Ser12749Thr)
c.37871G>C (p.Ser12624Thr)
c.65066G>C (p.Ser21689Thr)
c.60143G>C (p.Ser20048Thr)
n.596+13036C>G
n.2768-88C>G
c.64163G>C (p.Ser21388Thr)
c.38057G>C (p.Ser12686Thr)
c.37916G>C (p.Ser12639Thr)
c.63959G>C (p.Ser21320Thr)
c.59357G>C (p.Ser19786Thr)
c.59354G>C (p.Ser19785Thr)
c.56396G>C (p.Ser18799Thr)
c.38012G>C (p.Ser12671Thr)
c.59507G>C (p.Ser19836Thr)
c.59504G>C (p.Ser19835Thr)
c.58937G>C (p.Ser19646Thr)
c.56279G>C (p.Ser18760Thr)
c.56198G>C (p.Ser18733Thr)
c.37961G>C (p.Ser12654Thr)
c.27815G>C (p.Ser9272Thr)
 dbSNP
2g.178584485C>TCA349435485TTN,TTN-AS1c.57362G>A (p.Ser19121Asn)
c.38447G>A (p.Ser12816Asn)
c.38246G>A (p.Ser12749Asn)
c.37871G>A (p.Ser12624Asn)
c.65066G>A (p.Ser21689Asn)
c.60143G>A (p.Ser20048Asn)
n.596+13036C>T
n.2768-88C>T
c.64163G>A (p.Ser21388Asn)
c.38057G>A (p.Ser12686Asn)
c.37916G>A (p.Ser12639Asn)
c.63959G>A (p.Ser21320Asn)
c.59357G>A (p.Ser19786Asn)
c.59354G>A (p.Ser19785Asn)
c.56396G>A (p.Ser18799Asn)
c.38012G>A (p.Ser12671Asn)
c.59507G>A (p.Ser19836Asn)
c.59504G>A (p.Ser19835Asn)
c.58937G>A (p.Ser19646Asn)
c.56279G>A (p.Ser18760Asn)
c.56198G>A (p.Ser18733Asn)
c.37961G>A (p.Ser12654Asn)
c.27815G>A (p.Ser9272Asn)
2g.178584486T>ACA349435487TTN,TTN-AS1c.57361A>T (p.Ser19121Cys)
c.38446A>T (p.Ser12816Cys)
c.38245A>T (p.Ser12749Cys)
c.37870A>T (p.Ser12624Cys)
c.65065A>T (p.Ser21689Cys)
c.60142A>T (p.Ser20048Cys)
n.596+13037T>A
n.2768-87T>A
c.64162A>T (p.Ser21388Cys)
c.38056A>T (p.Ser12686Cys)
c.37915A>T (p.Ser12639Cys)
c.63958A>T (p.Ser21320Cys)
c.59356A>T (p.Ser19786Cys)
c.59353A>T (p.Ser19785Cys)
c.56395A>T (p.Ser18799Cys)
c.38011A>T (p.Ser12671Cys)
c.59506A>T (p.Ser19836Cys)
c.59503A>T (p.Ser19835Cys)
c.58936A>T (p.Ser19646Cys)
c.56278A>T (p.Ser18760Cys)
c.56197A>T (p.Ser18733Cys)
c.37960A>T (p.Ser12654Cys)
c.27814A>T (p.Ser9272Cys)
2g.178584486T>CCA349435489TTN,TTN-AS1c.57361A>G (p.Ser19121Gly)
c.38446A>G (p.Ser12816Gly)
c.38245A>G (p.Ser12749Gly)
c.37870A>G (p.Ser12624Gly)
c.65065A>G (p.Ser21689Gly)
c.60142A>G (p.Ser20048Gly)
n.596+13037T>C
n.2768-87T>C
c.64162A>G (p.Ser21388Gly)
c.38056A>G (p.Ser12686Gly)
c.37915A>G (p.Ser12639Gly)
c.63958A>G (p.Ser21320Gly)
c.59356A>G (p.Ser19786Gly)
c.59353A>G (p.Ser19785Gly)
c.56395A>G (p.Ser18799Gly)
c.38011A>G (p.Ser12671Gly)
c.59506A>G (p.Ser19836Gly)
c.59503A>G (p.Ser19835Gly)
c.58936A>G (p.Ser19646Gly)
c.56278A>G (p.Ser18760Gly)
c.56197A>G (p.Ser18733Gly)
c.37960A>G (p.Ser12654Gly)
c.27814A>G (p.Ser9272Gly)
2g.178584486T>GCA349435491TTN,TTN-AS1c.57361A>C (p.Ser19121Arg)
c.38446A>C (p.Ser12816Arg)
c.38245A>C (p.Ser12749Arg)
c.37870A>C (p.Ser12624Arg)
c.65065A>C (p.Ser21689Arg)
c.60142A>C (p.Ser20048Arg)
n.596+13037T>G
n.2768-87T>G
c.64162A>C (p.Ser21388Arg)
c.38056A>C (p.Ser12686Arg)
c.37915A>C (p.Ser12639Arg)
c.63958A>C (p.Ser21320Arg)
c.59356A>C (p.Ser19786Arg)
c.59353A>C (p.Ser19785Arg)
c.56395A>C (p.Ser18799Arg)
c.38011A>C (p.Ser12671Arg)
c.59506A>C (p.Ser19836Arg)
c.59503A>C (p.Ser19835Arg)
c.58936A>C (p.Ser19646Arg)
c.56278A>C (p.Ser18760Arg)
c.56197A>C (p.Ser18733Arg)
c.37960A>C (p.Ser12654Arg)
c.27814A>C (p.Ser9272Arg)
2g.178584487C>ACA430263251TTN,TTN-AS1c.57360G>T (p.Gly19120=)
c.38445G>T (p.Gly12815=)
c.38244G>T (p.Gly12748=)
c.37869G>T (p.Gly12623=)
c.65064G>T (p.Gly21688=)
c.60141G>T (p.Gly20047=)
n.596+13038C>A
n.2768-86C>A
c.64161G>T (p.Gly21387=)
c.38055G>T (p.Gly12685=)
c.37914G>T (p.Gly12638=)
c.63957G>T (p.Gly21319=)
c.59355G>T (p.Gly19785=)
c.59352G>T (p.Gly19784=)
c.56394G>T (p.Gly18798=)
c.38010G>T (p.Gly12670=)
c.59505G>T (p.Gly19835=)
c.59502G>T (p.Gly19834=)
c.58935G>T (p.Gly19645=)
c.56277G>T (p.Gly18759=)
c.56196G>T (p.Gly18732=)
c.37959G>T (p.Gly12653=)
c.27813G>T (p.Gly9271=)
 ClinVar gnomAD v4
2g.178584487C>GCA430263252TTN,TTN-AS1c.57360G>C (p.Gly19120=)
c.38445G>C (p.Gly12815=)
c.38244G>C (p.Gly12748=)
c.37869G>C (p.Gly12623=)
c.65064G>C (p.Gly21688=)
c.60141G>C (p.Gly20047=)
n.596+13038C>G
n.2768-86C>G
c.64161G>C (p.Gly21387=)
c.38055G>C (p.Gly12685=)
c.37914G>C (p.Gly12638=)
c.63957G>C (p.Gly21319=)
c.59355G>C (p.Gly19785=)
c.59352G>C (p.Gly19784=)
c.56394G>C (p.Gly18798=)
c.38010G>C (p.Gly12670=)
c.59505G>C (p.Gly19835=)
c.59502G>C (p.Gly19834=)
c.58935G>C (p.Gly19645=)
c.56277G>C (p.Gly18759=)
c.56196G>C (p.Gly18732=)
c.37959G>C (p.Gly12653=)
c.27813G>C (p.Gly9271=)
2g.178584487C>TCA430263253TTN,TTN-AS1c.57360G>A (p.Gly19120=)
c.38445G>A (p.Gly12815=)
c.38244G>A (p.Gly12748=)
c.37869G>A (p.Gly12623=)
c.65064G>A (p.Gly21688=)
c.60141G>A (p.Gly20047=)
n.596+13038C>T
n.2768-86C>T
c.64161G>A (p.Gly21387=)
c.38055G>A (p.Gly12685=)
c.37914G>A (p.Gly12638=)
c.63957G>A (p.Gly21319=)
c.59355G>A (p.Gly19785=)
c.59352G>A (p.Gly19784=)
c.56394G>A (p.Gly18798=)
c.38010G>A (p.Gly12670=)
c.59505G>A (p.Gly19835=)
c.59502G>A (p.Gly19834=)
c.58935G>A (p.Gly19645=)
c.56277G>A (p.Gly18759=)
c.56196G>A (p.Gly18732=)
c.37959G>A (p.Gly12653=)
c.27813G>A (p.Gly9271=)
 gnomAD v4
2g.178584488C>ACA349435495TTN,TTN-AS1c.57359G>T (p.Gly19120Val)
c.38444G>T (p.Gly12815Val)
c.38243G>T (p.Gly12748Val)
c.37868G>T (p.Gly12623Val)
c.65063G>T (p.Gly21688Val)
c.60140G>T (p.Gly20047Val)
n.596+13039C>A
n.2768-85C>A
c.64160G>T (p.Gly21387Val)
c.38054G>T (p.Gly12685Val)
c.37913G>T (p.Gly12638Val)
c.63956G>T (p.Gly21319Val)
c.59354G>T (p.Gly19785Val)
c.59351G>T (p.Gly19784Val)
c.56393G>T (p.Gly18798Val)
c.38009G>T (p.Gly12670Val)
c.59504G>T (p.Gly19835Val)
c.59501G>T (p.Gly19834Val)
c.58934G>T (p.Gly19645Val)
c.56276G>T (p.Gly18759Val)
c.56195G>T (p.Gly18732Val)
c.37958G>T (p.Gly12653Val)
c.27812G>T (p.Gly9271Val)
2g.178584488C>GCA349435497TTN,TTN-AS1c.57359G>C (p.Gly19120Ala)
c.38444G>C (p.Gly12815Ala)
c.38243G>C (p.Gly12748Ala)
c.37868G>C (p.Gly12623Ala)
c.65063G>C (p.Gly21688Ala)
c.60140G>C (p.Gly20047Ala)
n.596+13039C>G
n.2768-85C>G
c.64160G>C (p.Gly21387Ala)
c.38054G>C (p.Gly12685Ala)
c.37913G>C (p.Gly12638Ala)
c.63956G>C (p.Gly21319Ala)
c.59354G>C (p.Gly19785Ala)
c.59351G>C (p.Gly19784Ala)
c.56393G>C (p.Gly18798Ala)
c.38009G>C (p.Gly12670Ala)
c.59504G>C (p.Gly19835Ala)
c.59501G>C (p.Gly19834Ala)
c.58934G>C (p.Gly19645Ala)
c.56276G>C (p.Gly18759Ala)
c.56195G>C (p.Gly18732Ala)
c.37958G>C (p.Gly12653Ala)
c.27812G>C (p.Gly9271Ala)
2g.178584488C>TCA349435493TTN,TTN-AS1c.57359G>A (p.Gly19120Glu)
c.38444G>A (p.Gly12815Glu)
c.38243G>A (p.Gly12748Glu)
c.37868G>A (p.Gly12623Glu)
c.65063G>A (p.Gly21688Glu)
c.60140G>A (p.Gly20047Glu)
n.596+13039C>T
n.2768-85C>T
c.64160G>A (p.Gly21387Glu)
c.38054G>A (p.Gly12685Glu)
c.37913G>A (p.Gly12638Glu)
c.63956G>A (p.Gly21319Glu)
c.59354G>A (p.Gly19785Glu)
c.59351G>A (p.Gly19784Glu)
c.56393G>A (p.Gly18798Glu)
c.38009G>A (p.Gly12670Glu)
c.59504G>A (p.Gly19835Glu)
c.59501G>A (p.Gly19834Glu)
c.58934G>A (p.Gly19645Glu)
c.56276G>A (p.Gly18759Glu)
c.56195G>A (p.Gly18732Glu)
c.37958G>A (p.Gly12653Glu)
c.27812G>A (p.Gly9271Glu)
2g.178584489C>ACA349435501TTN,TTN-AS1c.57358G>T (p.Gly19120Trp)
c.38443G>T (p.Gly12815Trp)
c.38242G>T (p.Gly12748Trp)
c.37867G>T (p.Gly12623Trp)
c.65062G>T (p.Gly21688Trp)
c.60139G>T (p.Gly20047Trp)
n.596+13040C>A
n.2768-84C>A
c.64159G>T (p.Gly21387Trp)
c.38053G>T (p.Gly12685Trp)
c.37912G>T (p.Gly12638Trp)
c.63955G>T (p.Gly21319Trp)
c.59353G>T (p.Gly19785Trp)
c.59350G>T (p.Gly19784Trp)
c.56392G>T (p.Gly18798Trp)
c.38008G>T (p.Gly12670Trp)
c.59503G>T (p.Gly19835Trp)
c.59500G>T (p.Gly19834Trp)
c.58933G>T (p.Gly19645Trp)
c.56275G>T (p.Gly18759Trp)
c.56194G>T (p.Gly18732Trp)
c.37957G>T (p.Gly12653Trp)
c.27811G>T (p.Gly9271Trp)
2g.178584489C=CA1310537038TTN,TTN-AS1c.57358G= (p.Gly19120=)
c.38443G= (p.Gly12815=)
c.38242G= (p.Gly12748=)
c.37867G= (p.Gly12623=)
c.65062G= (p.Gly21688=)
c.60139G= (p.Gly20047=)
n.596+13040C=
n.2768-84C=
c.64159G= (p.Gly21387=)
c.38053G= (p.Gly12685=)
c.37912G= (p.Gly12638=)
c.63955G= (p.Gly21319=)
c.59353G= (p.Gly19785=)
c.59350G= (p.Gly19784=)
c.56392G= (p.Gly18798=)
c.38008G= (p.Gly12670=)
c.59503G= (p.Gly19835=)
c.59500G= (p.Gly19834=)
c.58933G= (p.Gly19645=)
c.56275G= (p.Gly18759=)
c.56194G= (p.Gly18732=)
c.37957G= (p.Gly12653=)
c.27811G= (p.Gly9271=)
2g.178584489C>GCA1991786TTN,TTN-AS1c.57358G>C (p.Gly19120Arg)
c.38443G>C (p.Gly12815Arg)
c.38242G>C (p.Gly12748Arg)
c.37867G>C (p.Gly12623Arg)
c.65062G>C (p.Gly21688Arg)
c.60139G>C (p.Gly20047Arg)
n.596+13040C>G
n.2768-84C>G
c.64159G>C (p.Gly21387Arg)
c.38053G>C (p.Gly12685Arg)
c.37912G>C (p.Gly12638Arg)
c.63955G>C (p.Gly21319Arg)
c.59353G>C (p.Gly19785Arg)
c.59350G>C (p.Gly19784Arg)
c.56392G>C (p.Gly18798Arg)
c.38008G>C (p.Gly12670Arg)
c.59503G>C (p.Gly19835Arg)
c.59500G>C (p.Gly19834Arg)
c.58933G>C (p.Gly19645Arg)
c.56275G>C (p.Gly18759Arg)
c.56194G>C (p.Gly18732Arg)
c.37957G>C (p.Gly12653Arg)
c.27811G>C (p.Gly9271Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178584489C>TCA1991787TTN,TTN-AS1c.57358G>A (p.Gly19120Arg)
c.38443G>A (p.Gly12815Arg)
c.38242G>A (p.Gly12748Arg)
c.37867G>A (p.Gly12623Arg)
c.65062G>A (p.Gly21688Arg)
c.60139G>A (p.Gly20047Arg)
n.596+13040C>T
n.2768-84C>T
c.64159G>A (p.Gly21387Arg)
c.38053G>A (p.Gly12685Arg)
c.37912G>A (p.Gly12638Arg)
c.63955G>A (p.Gly21319Arg)
c.59353G>A (p.Gly19785Arg)
c.59350G>A (p.Gly19784Arg)
c.56392G>A (p.Gly18798Arg)
c.38008G>A (p.Gly12670Arg)
c.59503G>A (p.Gly19835Arg)
c.59500G>A (p.Gly19834Arg)
c.58933G>A (p.Gly19645Arg)
c.56275G>A (p.Gly18759Arg)
c.56194G>A (p.Gly18732Arg)
c.37957G>A (p.Gly12653Arg)
c.27811G>A (p.Gly9271Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched