Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178531764G>ACA349410734TTN,TTN-AS1c.97147C>T (p.His32383Tyr)
c.78232C>T (p.His26078Tyr)
c.78031C>T (p.His26011Tyr)
c.77656C>T (p.His25886Tyr)
c.104851C>T (p.His34951Tyr)
c.99928C>T (p.His33310Tyr)
n.446+8128G>A
n.220-3968G>A
c.103948C>T (p.His34650Tyr)
c.77842C>T (p.His25948Tyr)
c.77701C>T (p.His25901Tyr)
c.103744C>T (p.His34582Tyr)
c.99142C>T (p.His33048Tyr)
c.99139C>T (p.His33047Tyr)
c.96181C>T (p.His32061Tyr)
c.77797C>T (p.His25933Tyr)
c.99292C>T (p.His33098Tyr)
c.99289C>T (p.His33097Tyr)
c.98722C>T (p.His32908Tyr)
c.96064C>T (p.His32022Tyr)
c.95983C>T (p.His31995Tyr)
c.77746C>T (p.His25916Tyr)
c.67600C>T (p.His22534Tyr)
2g.178531764G>CCA349410731TTN,TTN-AS1c.97147C>G (p.His32383Asp)
c.78232C>G (p.His26078Asp)
c.78031C>G (p.His26011Asp)
c.77656C>G (p.His25886Asp)
c.104851C>G (p.His34951Asp)
c.99928C>G (p.His33310Asp)
n.446+8128G>C
n.220-3968G>C
c.103948C>G (p.His34650Asp)
c.77842C>G (p.His25948Asp)
c.77701C>G (p.His25901Asp)
c.103744C>G (p.His34582Asp)
c.99142C>G (p.His33048Asp)
c.99139C>G (p.His33047Asp)
c.96181C>G (p.His32061Asp)
c.77797C>G (p.His25933Asp)
c.99292C>G (p.His33098Asp)
c.99289C>G (p.His33097Asp)
c.98722C>G (p.His32908Asp)
c.96064C>G (p.His32022Asp)
c.95983C>G (p.His31995Asp)
c.77746C>G (p.His25916Asp)
c.67600C>G (p.His22534Asp)
2g.178531764G>TCA349410733TTN,TTN-AS1c.97147C>A (p.His32383Asn)
c.78232C>A (p.His26078Asn)
c.78031C>A (p.His26011Asn)
c.77656C>A (p.His25886Asn)
c.104851C>A (p.His34951Asn)
c.99928C>A (p.His33310Asn)
n.446+8128G>T
n.220-3968G>T
c.103948C>A (p.His34650Asn)
c.77842C>A (p.His25948Asn)
c.77701C>A (p.His25901Asn)
c.103744C>A (p.His34582Asn)
c.99142C>A (p.His33048Asn)
c.99139C>A (p.His33047Asn)
c.96181C>A (p.His32061Asn)
c.77797C>A (p.His25933Asn)
c.99292C>A (p.His33098Asn)
c.99289C>A (p.His33097Asn)
c.98722C>A (p.His32908Asn)
c.96064C>A (p.His32022Asn)
c.95983C>A (p.His31995Asn)
c.77746C>A (p.His25916Asn)
c.67600C>A (p.His22534Asn)
2g.178531765C>ACA430235355TTN,TTN-AS1c.97146G>T (p.Ser32382=)
c.78231G>T (p.Ser26077=)
c.78030G>T (p.Ser26010=)
c.77655G>T (p.Ser25885=)
c.104850G>T (p.Ser34950=)
c.99927G>T (p.Ser33309=)
n.446+8129C>A
n.220-3967C>A
c.103947G>T (p.Ser34649=)
c.77841G>T (p.Ser25947=)
c.77700G>T (p.Ser25900=)
c.103743G>T (p.Ser34581=)
c.99141G>T (p.Ser33047=)
c.99138G>T (p.Ser33046=)
c.96180G>T (p.Ser32060=)
c.77796G>T (p.Ser25932=)
c.99291G>T (p.Ser33097=)
c.99288G>T (p.Ser33096=)
c.98721G>T (p.Ser32907=)
c.96063G>T (p.Ser32021=)
c.95982G>T (p.Ser31994=)
c.77745G>T (p.Ser25915=)
c.67599G>T (p.Ser22533=)
2g.178531765C=CA1310517916TTN,TTN-AS1c.97146G= (p.Ser32382=)
c.78231G= (p.Ser26077=)
c.78030G= (p.Ser26010=)
c.77655G= (p.Ser25885=)
c.104850G= (p.Ser34950=)
c.99927G= (p.Ser33309=)
n.446+8129C=
n.220-3967C=
c.103947G= (p.Ser34649=)
c.77841G= (p.Ser25947=)
c.77700G= (p.Ser25900=)
c.103743G= (p.Ser34581=)
c.99141G= (p.Ser33047=)
c.99138G= (p.Ser33046=)
c.96180G= (p.Ser32060=)
c.77796G= (p.Ser25932=)
c.99291G= (p.Ser33097=)
c.99288G= (p.Ser33096=)
c.98721G= (p.Ser32907=)
c.96063G= (p.Ser32021=)
c.95982G= (p.Ser31994=)
c.77745G= (p.Ser25915=)
c.67599G= (p.Ser22533=)
2g.178531765C>GCA430235356TTN,TTN-AS1c.97146G>C (p.Ser32382=)
c.78231G>C (p.Ser26077=)
c.78030G>C (p.Ser26010=)
c.77655G>C (p.Ser25885=)
c.104850G>C (p.Ser34950=)
c.99927G>C (p.Ser33309=)
n.446+8129C>G
n.220-3967C>G
c.103947G>C (p.Ser34649=)
c.77841G>C (p.Ser25947=)
c.77700G>C (p.Ser25900=)
c.103743G>C (p.Ser34581=)
c.99141G>C (p.Ser33047=)
c.99138G>C (p.Ser33046=)
c.96180G>C (p.Ser32060=)
c.77796G>C (p.Ser25932=)
c.99291G>C (p.Ser33097=)
c.99288G>C (p.Ser33096=)
c.98721G>C (p.Ser32907=)
c.96063G>C (p.Ser32021=)
c.95982G>C (p.Ser31994=)
c.77745G>C (p.Ser25915=)
c.67599G>C (p.Ser22533=)
2g.178531765C>TCA1985348TTN,TTN-AS1c.97146G>A (p.Ser32382=)
c.78231G>A (p.Ser26077=)
c.78030G>A (p.Ser26010=)
c.77655G>A (p.Ser25885=)
c.104850G>A (p.Ser34950=)
c.99927G>A (p.Ser33309=)
n.446+8129C>T
n.220-3967C>T
c.103947G>A (p.Ser34649=)
c.77841G>A (p.Ser25947=)
c.77700G>A (p.Ser25900=)
c.103743G>A (p.Ser34581=)
c.99141G>A (p.Ser33047=)
c.99138G>A (p.Ser33046=)
c.96180G>A (p.Ser32060=)
c.77796G>A (p.Ser25932=)
c.99291G>A (p.Ser33097=)
c.99288G>A (p.Ser33096=)
c.98721G>A (p.Ser32907=)
c.96063G>A (p.Ser32021=)
c.95982G>A (p.Ser31994=)
c.77745G>A (p.Ser25915=)
c.67599G>A (p.Ser22533=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531766G>ACA1985349TTN,TTN-AS1c.97145C>T (p.Ser32382Leu)
c.78230C>T (p.Ser26077Leu)
c.78029C>T (p.Ser26010Leu)
c.77654C>T (p.Ser25885Leu)
c.104849C>T (p.Ser34950Leu)
c.99926C>T (p.Ser33309Leu)
n.446+8130G>A
n.220-3966G>A
c.103946C>T (p.Ser34649Leu)
c.77840C>T (p.Ser25947Leu)
c.77699C>T (p.Ser25900Leu)
c.103742C>T (p.Ser34581Leu)
c.99140C>T (p.Ser33047Leu)
c.99137C>T (p.Ser33046Leu)
c.96179C>T (p.Ser32060Leu)
c.77795C>T (p.Ser25932Leu)
c.99290C>T (p.Ser33097Leu)
c.99287C>T (p.Ser33096Leu)
c.98720C>T (p.Ser32907Leu)
c.96062C>T (p.Ser32021Leu)
c.95981C>T (p.Ser31994Leu)
c.77744C>T (p.Ser25915Leu)
c.67598C>T (p.Ser22533Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531766G>CCA349410738TTN,TTN-AS1c.97145C>G (p.Ser32382Trp)
c.78230C>G (p.Ser26077Trp)
c.78029C>G (p.Ser26010Trp)
c.77654C>G (p.Ser25885Trp)
c.104849C>G (p.Ser34950Trp)
c.99926C>G (p.Ser33309Trp)
n.446+8130G>C
n.220-3966G>C
c.103946C>G (p.Ser34649Trp)
c.77840C>G (p.Ser25947Trp)
c.77699C>G (p.Ser25900Trp)
c.103742C>G (p.Ser34581Trp)
c.99140C>G (p.Ser33047Trp)
c.99137C>G (p.Ser33046Trp)
c.96179C>G (p.Ser32060Trp)
c.77795C>G (p.Ser25932Trp)
c.99290C>G (p.Ser33097Trp)
c.99287C>G (p.Ser33096Trp)
c.98720C>G (p.Ser32907Trp)
c.96062C>G (p.Ser32021Trp)
c.95981C>G (p.Ser31994Trp)
c.77744C>G (p.Ser25915Trp)
c.67598C>G (p.Ser22533Trp)
2g.178531766G=CA1310517917TTN,TTN-AS1c.97145C= (p.Ser32382=)
c.78230C= (p.Ser26077=)
c.78029C= (p.Ser26010=)
c.77654C= (p.Ser25885=)
c.104849C= (p.Ser34950=)
c.99926C= (p.Ser33309=)
n.446+8130G=
n.220-3966G=
c.103946C= (p.Ser34649=)
c.77840C= (p.Ser25947=)
c.77699C= (p.Ser25900=)
c.103742C= (p.Ser34581=)
c.99140C= (p.Ser33047=)
c.99137C= (p.Ser33046=)
c.96179C= (p.Ser32060=)
c.77795C= (p.Ser25932=)
c.99290C= (p.Ser33097=)
c.99287C= (p.Ser33096=)
c.98720C= (p.Ser32907=)
c.96062C= (p.Ser32021=)
c.95981C= (p.Ser31994=)
c.77744C= (p.Ser25915=)
c.67598C= (p.Ser22533=)
2g.178531766G>TCA349410739TTN,TTN-AS1c.97145C>A (p.Ser32382Ter)
c.78230C>A (p.Ser26077Ter)
c.78029C>A (p.Ser26010Ter)
c.77654C>A (p.Ser25885Ter)
c.104849C>A (p.Ser34950Ter)
c.99926C>A (p.Ser33309Ter)
n.446+8130G>T
n.220-3966G>T
c.103946C>A (p.Ser34649Ter)
c.77840C>A (p.Ser25947Ter)
c.77699C>A (p.Ser25900Ter)
c.103742C>A (p.Ser34581Ter)
c.99140C>A (p.Ser33047Ter)
c.99137C>A (p.Ser33046Ter)
c.96179C>A (p.Ser32060Ter)
c.77795C>A (p.Ser25932Ter)
c.99290C>A (p.Ser33097Ter)
c.99287C>A (p.Ser33096Ter)
c.98720C>A (p.Ser32907Ter)
c.96062C>A (p.Ser32021Ter)
c.95981C>A (p.Ser31994Ter)
c.77744C>A (p.Ser25915Ter)
c.67598C>A (p.Ser22533Ter)
2g.178531767A>CCA349410740TTN,TTN-AS1c.97144T>G (p.Ser32382Ala)
c.78229T>G (p.Ser26077Ala)
c.78028T>G (p.Ser26010Ala)
c.77653T>G (p.Ser25885Ala)
c.104848T>G (p.Ser34950Ala)
c.99925T>G (p.Ser33309Ala)
n.446+8131A>C
n.220-3965A>C
c.103945T>G (p.Ser34649Ala)
c.77839T>G (p.Ser25947Ala)
c.77698T>G (p.Ser25900Ala)
c.103741T>G (p.Ser34581Ala)
c.99139T>G (p.Ser33047Ala)
c.99136T>G (p.Ser33046Ala)
c.96178T>G (p.Ser32060Ala)
c.77794T>G (p.Ser25932Ala)
c.99289T>G (p.Ser33097Ala)
c.99286T>G (p.Ser33096Ala)
c.98719T>G (p.Ser32907Ala)
c.96061T>G (p.Ser32021Ala)
c.95980T>G (p.Ser31994Ala)
c.77743T>G (p.Ser25915Ala)
c.67597T>G (p.Ser22533Ala)
2g.178531767A>GCA349410742TTN,TTN-AS1c.97144T>C (p.Ser32382Pro)
c.78229T>C (p.Ser26077Pro)
c.78028T>C (p.Ser26010Pro)
c.77653T>C (p.Ser25885Pro)
c.104848T>C (p.Ser34950Pro)
c.99925T>C (p.Ser33309Pro)
n.446+8131A>G
n.220-3965A>G
c.103945T>C (p.Ser34649Pro)
c.77839T>C (p.Ser25947Pro)
c.77698T>C (p.Ser25900Pro)
c.103741T>C (p.Ser34581Pro)
c.99139T>C (p.Ser33047Pro)
c.99136T>C (p.Ser33046Pro)
c.96178T>C (p.Ser32060Pro)
c.77794T>C (p.Ser25932Pro)
c.99289T>C (p.Ser33097Pro)
c.99286T>C (p.Ser33096Pro)
c.98719T>C (p.Ser32907Pro)
c.96061T>C (p.Ser32021Pro)
c.95980T>C (p.Ser31994Pro)
c.77743T>C (p.Ser25915Pro)
c.67597T>C (p.Ser22533Pro)
2g.178531767A>TCA349410744TTN,TTN-AS1c.97144T>A (p.Ser32382Thr)
c.78229T>A (p.Ser26077Thr)
c.78028T>A (p.Ser26010Thr)
c.77653T>A (p.Ser25885Thr)
c.104848T>A (p.Ser34950Thr)
c.99925T>A (p.Ser33309Thr)
n.446+8131A>T
n.220-3965A>T
c.103945T>A (p.Ser34649Thr)
c.77839T>A (p.Ser25947Thr)
c.77698T>A (p.Ser25900Thr)
c.103741T>A (p.Ser34581Thr)
c.99139T>A (p.Ser33047Thr)
c.99136T>A (p.Ser33046Thr)
c.96178T>A (p.Ser32060Thr)
c.77794T>A (p.Ser25932Thr)
c.99289T>A (p.Ser33097Thr)
c.99286T>A (p.Ser33096Thr)
c.98719T>A (p.Ser32907Thr)
c.96061T>A (p.Ser32021Thr)
c.95980T>A (p.Ser31994Thr)
c.77743T>A (p.Ser25915Thr)
c.67597T>A (p.Ser22533Thr)
2g.178531768G>ACA430235361TTN,TTN-AS1c.97143C>T (p.Arg32381=)
c.78228C>T (p.Arg26076=)
c.78027C>T (p.Arg26009=)
c.77652C>T (p.Arg25884=)
c.104847C>T (p.Arg34949=)
c.99924C>T (p.Arg33308=)
n.446+8132G>A
n.220-3964G>A
c.103944C>T (p.Arg34648=)
c.77838C>T (p.Arg25946=)
c.77697C>T (p.Arg25899=)
c.103740C>T (p.Arg34580=)
c.99138C>T (p.Arg33046=)
c.99135C>T (p.Arg33045=)
c.96177C>T (p.Arg32059=)
c.77793C>T (p.Arg25931=)
c.99288C>T (p.Arg33096=)
c.99285C>T (p.Arg33095=)
c.98718C>T (p.Arg32906=)
c.96060C>T (p.Arg32020=)
c.95979C>T (p.Arg31993=)
c.77742C>T (p.Arg25914=)
c.67596C>T (p.Arg22532=)
2g.178531768G>CCA430235360TTN,TTN-AS1c.97143C>G (p.Arg32381=)
c.78228C>G (p.Arg26076=)
c.78027C>G (p.Arg26009=)
c.77652C>G (p.Arg25884=)
c.104847C>G (p.Arg34949=)
c.99924C>G (p.Arg33308=)
n.446+8132G>C
n.220-3964G>C
c.103944C>G (p.Arg34648=)
c.77838C>G (p.Arg25946=)
c.77697C>G (p.Arg25899=)
c.103740C>G (p.Arg34580=)
c.99138C>G (p.Arg33046=)
c.99135C>G (p.Arg33045=)
c.96177C>G (p.Arg32059=)
c.77793C>G (p.Arg25931=)
c.99288C>G (p.Arg33096=)
c.99285C>G (p.Arg33095=)
c.98718C>G (p.Arg32906=)
c.96060C>G (p.Arg32020=)
c.95979C>G (p.Arg31993=)
c.77742C>G (p.Arg25914=)
c.67596C>G (p.Arg22532=)
2g.178531768G>TCA430235359TTN,TTN-AS1c.97143C>A (p.Arg32381=)
c.78228C>A (p.Arg26076=)
c.78027C>A (p.Arg26009=)
c.77652C>A (p.Arg25884=)
c.104847C>A (p.Arg34949=)
c.99924C>A (p.Arg33308=)
n.446+8132G>T
n.220-3964G>T
c.103944C>A (p.Arg34648=)
c.77838C>A (p.Arg25946=)
c.77697C>A (p.Arg25899=)
c.103740C>A (p.Arg34580=)
c.99138C>A (p.Arg33046=)
c.99135C>A (p.Arg33045=)
c.96177C>A (p.Arg32059=)
c.77793C>A (p.Arg25931=)
c.99288C>A (p.Arg33096=)
c.99285C>A (p.Arg33095=)
c.98718C>A (p.Arg32906=)
c.96060C>A (p.Arg32020=)
c.95979C>A (p.Arg31993=)
c.77742C>A (p.Arg25914=)
c.67596C>A (p.Arg22532=)
2g.178531769C>ACA349410746TTN,TTN-AS1c.97142G>T (p.Arg32381Leu)
c.78227G>T (p.Arg26076Leu)
c.78026G>T (p.Arg26009Leu)
c.77651G>T (p.Arg25884Leu)
c.104846G>T (p.Arg34949Leu)
c.99923G>T (p.Arg33308Leu)
n.446+8133C>A
n.220-3963C>A
c.103943G>T (p.Arg34648Leu)
c.77837G>T (p.Arg25946Leu)
c.77696G>T (p.Arg25899Leu)
c.103739G>T (p.Arg34580Leu)
c.99137G>T (p.Arg33046Leu)
c.99134G>T (p.Arg33045Leu)
c.96176G>T (p.Arg32059Leu)
c.77792G>T (p.Arg25931Leu)
c.99287G>T (p.Arg33096Leu)
c.99284G>T (p.Arg33095Leu)
c.98717G>T (p.Arg32906Leu)
c.96059G>T (p.Arg32020Leu)
c.95978G>T (p.Arg31993Leu)
c.77741G>T (p.Arg25914Leu)
c.67595G>T (p.Arg22532Leu)
2g.178531769C=CA1310517918TTN,TTN-AS1c.97142G= (p.Arg32381=)
c.78227G= (p.Arg26076=)
c.78026G= (p.Arg26009=)
c.77651G= (p.Arg25884=)
c.104846G= (p.Arg34949=)
c.99923G= (p.Arg33308=)
n.446+8133C=
n.220-3963C=
c.103943G= (p.Arg34648=)
c.77837G= (p.Arg25946=)
c.77696G= (p.Arg25899=)
c.103739G= (p.Arg34580=)
c.99137G= (p.Arg33046=)
c.99134G= (p.Arg33045=)
c.96176G= (p.Arg32059=)
c.77792G= (p.Arg25931=)
c.99287G= (p.Arg33096=)
c.99284G= (p.Arg33095=)
c.98717G= (p.Arg32906=)
c.96059G= (p.Arg32020=)
c.95978G= (p.Arg31993=)
c.77741G= (p.Arg25914=)
c.67595G= (p.Arg22532=)
2g.178531769C>GCA349410747TTN,TTN-AS1c.97142G>C (p.Arg32381Pro)
c.78227G>C (p.Arg26076Pro)
c.78026G>C (p.Arg26009Pro)
c.77651G>C (p.Arg25884Pro)
c.104846G>C (p.Arg34949Pro)
c.99923G>C (p.Arg33308Pro)
n.446+8133C>G
n.220-3963C>G
c.103943G>C (p.Arg34648Pro)
c.77837G>C (p.Arg25946Pro)
c.77696G>C (p.Arg25899Pro)
c.103739G>C (p.Arg34580Pro)
c.99137G>C (p.Arg33046Pro)
c.99134G>C (p.Arg33045Pro)
c.96176G>C (p.Arg32059Pro)
c.77792G>C (p.Arg25931Pro)
c.99287G>C (p.Arg33096Pro)
c.99284G>C (p.Arg33095Pro)
c.98717G>C (p.Arg32906Pro)
c.96059G>C (p.Arg32020Pro)
c.95978G>C (p.Arg31993Pro)
c.77741G>C (p.Arg25914Pro)
c.67595G>C (p.Arg22532Pro)
 gnomAD v4
2g.178531769C>TCA1985350TTN,TTN-AS1c.97142G>A (p.Arg32381His)
c.78227G>A (p.Arg26076His)
c.78026G>A (p.Arg26009His)
c.77651G>A (p.Arg25884His)
c.104846G>A (p.Arg34949His)
c.99923G>A (p.Arg33308His)
n.446+8133C>T
n.220-3963C>T
c.103943G>A (p.Arg34648His)
c.77837G>A (p.Arg25946His)
c.77696G>A (p.Arg25899His)
c.103739G>A (p.Arg34580His)
c.99137G>A (p.Arg33046His)
c.99134G>A (p.Arg33045His)
c.96176G>A (p.Arg32059His)
c.77792G>A (p.Arg25931His)
c.99287G>A (p.Arg33096His)
c.99284G>A (p.Arg33095His)
c.98717G>A (p.Arg32906His)
c.96059G>A (p.Arg32020His)
c.95978G>A (p.Arg31993His)
c.77741G>A (p.Arg25914His)
c.67595G>A (p.Arg22532His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531770G>ACA1985351TTN,TTN-AS1c.97141C>T (p.Arg32381Cys)
c.78226C>T (p.Arg26076Cys)
c.78025C>T (p.Arg26009Cys)
c.77650C>T (p.Arg25884Cys)
c.104845C>T (p.Arg34949Cys)
c.99922C>T (p.Arg33308Cys)
n.446+8134G>A
n.220-3962G>A
c.103942C>T (p.Arg34648Cys)
c.77836C>T (p.Arg25946Cys)
c.77695C>T (p.Arg25899Cys)
c.103738C>T (p.Arg34580Cys)
c.99136C>T (p.Arg33046Cys)
c.99133C>T (p.Arg33045Cys)
c.96175C>T (p.Arg32059Cys)
c.77791C>T (p.Arg25931Cys)
c.99286C>T (p.Arg33096Cys)
c.99283C>T (p.Arg33095Cys)
c.98716C>T (p.Arg32906Cys)
c.96058C>T (p.Arg32020Cys)
c.95977C>T (p.Arg31993Cys)
c.77740C>T (p.Arg25914Cys)
c.67594C>T (p.Arg22532Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178531770G>CCA349410751TTN,TTN-AS1c.97141C>G (p.Arg32381Gly)
c.78226C>G (p.Arg26076Gly)
c.78025C>G (p.Arg26009Gly)
c.77650C>G (p.Arg25884Gly)
c.104845C>G (p.Arg34949Gly)
c.99922C>G (p.Arg33308Gly)
n.446+8134G>C
n.220-3962G>C
c.103942C>G (p.Arg34648Gly)
c.77836C>G (p.Arg25946Gly)
c.77695C>G (p.Arg25899Gly)
c.103738C>G (p.Arg34580Gly)
c.99136C>G (p.Arg33046Gly)
c.99133C>G (p.Arg33045Gly)
c.96175C>G (p.Arg32059Gly)
c.77791C>G (p.Arg25931Gly)
c.99286C>G (p.Arg33096Gly)
c.99283C>G (p.Arg33095Gly)
c.98716C>G (p.Arg32906Gly)
c.96058C>G (p.Arg32020Gly)
c.95977C>G (p.Arg31993Gly)
c.77740C>G (p.Arg25914Gly)
c.67594C>G (p.Arg22532Gly)
2g.178531770G=CA1310517919TTN,TTN-AS1c.97141C= (p.Arg32381=)
c.78226C= (p.Arg26076=)
c.78025C= (p.Arg26009=)
c.77650C= (p.Arg25884=)
c.104845C= (p.Arg34949=)
c.99922C= (p.Arg33308=)
n.446+8134G=
n.220-3962G=
c.103942C= (p.Arg34648=)
c.77836C= (p.Arg25946=)
c.77695C= (p.Arg25899=)
c.103738C= (p.Arg34580=)
c.99136C= (p.Arg33046=)
c.99133C= (p.Arg33045=)
c.96175C= (p.Arg32059=)
c.77791C= (p.Arg25931=)
c.99286C= (p.Arg33096=)
c.99283C= (p.Arg33095=)
c.98716C= (p.Arg32906=)
c.96058C= (p.Arg32020=)
c.95977C= (p.Arg31993=)
c.77740C= (p.Arg25914=)
c.67594C= (p.Arg22532=)
2g.178531770G>TCA349410750TTN,TTN-AS1c.97141C>A (p.Arg32381Ser)
c.78226C>A (p.Arg26076Ser)
c.78025C>A (p.Arg26009Ser)
c.77650C>A (p.Arg25884Ser)
c.104845C>A (p.Arg34949Ser)
c.99922C>A (p.Arg33308Ser)
n.446+8134G>T
n.220-3962G>T
c.103942C>A (p.Arg34648Ser)
c.77836C>A (p.Arg25946Ser)
c.77695C>A (p.Arg25899Ser)
c.103738C>A (p.Arg34580Ser)
c.99136C>A (p.Arg33046Ser)
c.99133C>A (p.Arg33045Ser)
c.96175C>A (p.Arg32059Ser)
c.77791C>A (p.Arg25931Ser)
c.99286C>A (p.Arg33096Ser)
c.99283C>A (p.Arg33095Ser)
c.98716C>A (p.Arg32906Ser)
c.96058C>A (p.Arg32020Ser)
c.95977C>A (p.Arg31993Ser)
c.77740C>A (p.Arg25914Ser)
c.67594C>A (p.Arg22532Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.178531771C>ACA349410752TTN,TTN-AS1c.97140G>T (p.Met32380Ile)
c.78225G>T (p.Met26075Ile)
c.78024G>T (p.Met26008Ile)
c.77649G>T (p.Met25883Ile)
c.104844G>T (p.Met34948Ile)
c.99921G>T (p.Met33307Ile)
n.446+8135C>A
n.220-3961C>A
c.103941G>T (p.Met34647Ile)
c.77835G>T (p.Met25945Ile)
c.77694G>T (p.Met25898Ile)
c.103737G>T (p.Met34579Ile)
c.99135G>T (p.Met33045Ile)
c.99132G>T (p.Met33044Ile)
c.96174G>T (p.Met32058Ile)
c.77790G>T (p.Met25930Ile)
c.99285G>T (p.Met33095Ile)
c.99282G>T (p.Met33094Ile)
c.98715G>T (p.Met32905Ile)
c.96057G>T (p.Met32019Ile)
c.95976G>T (p.Met31992Ile)
c.77739G>T (p.Met25913Ile)
c.67593G>T (p.Met22531Ile)
2g.178531771C=CA1310517920TTN,TTN-AS1c.97140G= (p.Met32380=)
c.78225G= (p.Met26075=)
c.78024G= (p.Met26008=)
c.77649G= (p.Met25883=)
c.104844G= (p.Met34948=)
c.99921G= (p.Met33307=)
n.446+8135C=
n.220-3961C=
c.103941G= (p.Met34647=)
c.77835G= (p.Met25945=)
c.77694G= (p.Met25898=)
c.103737G= (p.Met34579=)
c.99135G= (p.Met33045=)
c.99132G= (p.Met33044=)
c.96174G= (p.Met32058=)
c.77790G= (p.Met25930=)
c.99285G= (p.Met33095=)
c.99282G= (p.Met33094=)
c.98715G= (p.Met32905=)
c.96057G= (p.Met32019=)
c.95976G= (p.Met31992=)
c.77739G= (p.Met25913=)
c.67593G= (p.Met22531=)
2g.178531771C>GCA349410753TTN,TTN-AS1c.97140G>C (p.Met32380Ile)
c.78225G>C (p.Met26075Ile)
c.78024G>C (p.Met26008Ile)
c.77649G>C (p.Met25883Ile)
c.104844G>C (p.Met34948Ile)
c.99921G>C (p.Met33307Ile)
n.446+8135C>G
n.220-3961C>G
c.103941G>C (p.Met34647Ile)
c.77835G>C (p.Met25945Ile)
c.77694G>C (p.Met25898Ile)
c.103737G>C (p.Met34579Ile)
c.99135G>C (p.Met33045Ile)
c.99132G>C (p.Met33044Ile)
c.96174G>C (p.Met32058Ile)
c.77790G>C (p.Met25930Ile)
c.99285G>C (p.Met33095Ile)
c.99282G>C (p.Met33094Ile)
c.98715G>C (p.Met32905Ile)
c.96057G>C (p.Met32019Ile)
c.95976G>C (p.Met31992Ile)
c.77739G>C (p.Met25913Ile)
c.67593G>C (p.Met22531Ile)
2g.178531771C>TCA349410754TTN,TTN-AS1c.97140G>A (p.Met32380Ile)
c.78225G>A (p.Met26075Ile)
c.78024G>A (p.Met26008Ile)
c.77649G>A (p.Met25883Ile)
c.104844G>A (p.Met34948Ile)
c.99921G>A (p.Met33307Ile)
n.446+8135C>T
n.220-3961C>T
c.103941G>A (p.Met34647Ile)
c.77835G>A (p.Met25945Ile)
c.77694G>A (p.Met25898Ile)
c.103737G>A (p.Met34579Ile)
c.99135G>A (p.Met33045Ile)
c.99132G>A (p.Met33044Ile)
c.96174G>A (p.Met32058Ile)
c.77790G>A (p.Met25930Ile)
c.99285G>A (p.Met33095Ile)
c.99282G>A (p.Met33094Ile)
c.98715G>A (p.Met32905Ile)
c.96057G>A (p.Met32019Ile)
c.95976G>A (p.Met31992Ile)
c.77739G>A (p.Met25913Ile)
c.67593G>A (p.Met22531Ile)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178531772A>CCA349410756TTN,TTN-AS1c.97139T>G (p.Met32380Arg)
c.78224T>G (p.Met26075Arg)
c.78023T>G (p.Met26008Arg)
c.77648T>G (p.Met25883Arg)
c.104843T>G (p.Met34948Arg)
c.99920T>G (p.Met33307Arg)
n.446+8136A>C
n.220-3960A>C
c.103940T>G (p.Met34647Arg)
c.77834T>G (p.Met25945Arg)
c.77693T>G (p.Met25898Arg)
c.103736T>G (p.Met34579Arg)
c.99134T>G (p.Met33045Arg)
c.99131T>G (p.Met33044Arg)
c.96173T>G (p.Met32058Arg)
c.77789T>G (p.Met25930Arg)
c.99284T>G (p.Met33095Arg)
c.99281T>G (p.Met33094Arg)
c.98714T>G (p.Met32905Arg)
c.96056T>G (p.Met32019Arg)
c.95975T>G (p.Met31992Arg)
c.77738T>G (p.Met25913Arg)
c.67592T>G (p.Met22531Arg)
2g.178531772A>GCA349410758TTN,TTN-AS1c.97139T>C (p.Met32380Thr)
c.78224T>C (p.Met26075Thr)
c.78023T>C (p.Met26008Thr)
c.77648T>C (p.Met25883Thr)
c.104843T>C (p.Met34948Thr)
c.99920T>C (p.Met33307Thr)
n.446+8136A>G
n.220-3960A>G
c.103940T>C (p.Met34647Thr)
c.77834T>C (p.Met25945Thr)
c.77693T>C (p.Met25898Thr)
c.103736T>C (p.Met34579Thr)
c.99134T>C (p.Met33045Thr)
c.99131T>C (p.Met33044Thr)
c.96173T>C (p.Met32058Thr)
c.77789T>C (p.Met25930Thr)
c.99284T>C (p.Met33095Thr)
c.99281T>C (p.Met33094Thr)
c.98714T>C (p.Met32905Thr)
c.96056T>C (p.Met32019Thr)
c.95975T>C (p.Met31992Thr)
c.77738T>C (p.Met25913Thr)
c.67592T>C (p.Met22531Thr)
 gnomAD v4
2g.178531772A>TCA349410759TTN,TTN-AS1c.97139T>A (p.Met32380Lys)
c.78224T>A (p.Met26075Lys)
c.78023T>A (p.Met26008Lys)
c.77648T>A (p.Met25883Lys)
c.104843T>A (p.Met34948Lys)
c.99920T>A (p.Met33307Lys)
n.446+8136A>T
n.220-3960A>T
c.103940T>A (p.Met34647Lys)
c.77834T>A (p.Met25945Lys)
c.77693T>A (p.Met25898Lys)
c.103736T>A (p.Met34579Lys)
c.99134T>A (p.Met33045Lys)
c.99131T>A (p.Met33044Lys)
c.96173T>A (p.Met32058Lys)
c.77789T>A (p.Met25930Lys)
c.99284T>A (p.Met33095Lys)
c.99281T>A (p.Met33094Lys)
c.98714T>A (p.Met32905Lys)
c.96056T>A (p.Met32019Lys)
c.95975T>A (p.Met31992Lys)
c.77738T>A (p.Met25913Lys)
c.67592T>A (p.Met22531Lys)
2g.178531773T>ACA349410761TTN,TTN-AS1c.97138A>T (p.Met32380Leu)
c.78223A>T (p.Met26075Leu)
c.78022A>T (p.Met26008Leu)
c.77647A>T (p.Met25883Leu)
c.104842A>T (p.Met34948Leu)
c.99919A>T (p.Met33307Leu)
n.446+8137T>A
n.220-3959T>A
c.103939A>T (p.Met34647Leu)
c.77833A>T (p.Met25945Leu)
c.77692A>T (p.Met25898Leu)
c.103735A>T (p.Met34579Leu)
c.99133A>T (p.Met33045Leu)
c.99130A>T (p.Met33044Leu)
c.96172A>T (p.Met32058Leu)
c.77788A>T (p.Met25930Leu)
c.99283A>T (p.Met33095Leu)
c.99280A>T (p.Met33094Leu)
c.98713A>T (p.Met32905Leu)
c.96055A>T (p.Met32019Leu)
c.95974A>T (p.Met31992Leu)
c.77737A>T (p.Met25913Leu)
c.67591A>T (p.Met22531Leu)
2g.178531773T>CCA349410763TTN,TTN-AS1c.97138A>G (p.Met32380Val)
c.78223A>G (p.Met26075Val)
c.78022A>G (p.Met26008Val)
c.77647A>G (p.Met25883Val)
c.104842A>G (p.Met34948Val)
c.99919A>G (p.Met33307Val)
n.446+8137T>C
n.220-3959T>C
c.103939A>G (p.Met34647Val)
c.77833A>G (p.Met25945Val)
c.77692A>G (p.Met25898Val)
c.103735A>G (p.Met34579Val)
c.99133A>G (p.Met33045Val)
c.99130A>G (p.Met33044Val)
c.96172A>G (p.Met32058Val)
c.77788A>G (p.Met25930Val)
c.99283A>G (p.Met33095Val)
c.99280A>G (p.Met33094Val)
c.98713A>G (p.Met32905Val)
c.96055A>G (p.Met32019Val)
c.95974A>G (p.Met31992Val)
c.77737A>G (p.Met25913Val)
c.67591A>G (p.Met22531Val)
 dbSNP gnomAD v2 gnomAD v4
2g.178531773T>GCA349410765TTN,TTN-AS1c.97138A>C (p.Met32380Leu)
c.78223A>C (p.Met26075Leu)
c.78022A>C (p.Met26008Leu)
c.77647A>C (p.Met25883Leu)
c.104842A>C (p.Met34948Leu)
c.99919A>C (p.Met33307Leu)
n.446+8137T>G
n.220-3959T>G
c.103939A>C (p.Met34647Leu)
c.77833A>C (p.Met25945Leu)
c.77692A>C (p.Met25898Leu)
c.103735A>C (p.Met34579Leu)
c.99133A>C (p.Met33045Leu)
c.99130A>C (p.Met33044Leu)
c.96172A>C (p.Met32058Leu)
c.77788A>C (p.Met25930Leu)
c.99283A>C (p.Met33095Leu)
c.99280A>C (p.Met33094Leu)
c.98713A>C (p.Met32905Leu)
c.96055A>C (p.Met32019Leu)
c.95974A>C (p.Met31992Leu)
c.77737A>C (p.Met25913Leu)
c.67591A>C (p.Met22531Leu)
2g.178531773T=CA1310517921TTN,TTN-AS1c.97138A= (p.Met32380=)
c.78223A= (p.Met26075=)
c.78022A= (p.Met26008=)
c.77647A= (p.Met25883=)
c.104842A= (p.Met34948=)
c.99919A= (p.Met33307=)
n.446+8137T=
n.220-3959T=
c.103939A= (p.Met34647=)
c.77833A= (p.Met25945=)
c.77692A= (p.Met25898=)
c.103735A= (p.Met34579=)
c.99133A= (p.Met33045=)
c.99130A= (p.Met33044=)
c.96172A= (p.Met32058=)
c.77788A= (p.Met25930=)
c.99283A= (p.Met33095=)
c.99280A= (p.Met33094=)
c.98713A= (p.Met32905=)
c.96055A= (p.Met32019=)
c.95974A= (p.Met31992=)
c.77737A= (p.Met25913=)
c.67591A= (p.Met22531=)
2g.178531774T>ACA349410766TTN,TTN-AS1c.97137A>T (p.Arg32379Ser)
c.78222A>T (p.Arg26074Ser)
c.78021A>T (p.Arg26007Ser)
c.77646A>T (p.Arg25882Ser)
c.104841A>T (p.Arg34947Ser)
c.99918A>T (p.Arg33306Ser)
n.446+8138T>A
n.220-3958T>A
c.103938A>T (p.Arg34646Ser)
c.77832A>T (p.Arg25944Ser)
c.77691A>T (p.Arg25897Ser)
c.103734A>T (p.Arg34578Ser)
c.99132A>T (p.Arg33044Ser)
c.99129A>T (p.Arg33043Ser)
c.96171A>T (p.Arg32057Ser)
c.77787A>T (p.Arg25929Ser)
c.99282A>T (p.Arg33094Ser)
c.99279A>T (p.Arg33093Ser)
c.98712A>T (p.Arg32904Ser)
c.96054A>T (p.Arg32018Ser)
c.95973A>T (p.Arg31991Ser)
c.77736A>T (p.Arg25912Ser)
c.67590A>T (p.Arg22530Ser)
2g.178531774T>CCA430235365TTN,TTN-AS1c.97137A>G (p.Arg32379=)
c.78222A>G (p.Arg26074=)
c.78021A>G (p.Arg26007=)
c.77646A>G (p.Arg25882=)
c.104841A>G (p.Arg34947=)
c.99918A>G (p.Arg33306=)
n.446+8138T>C
n.220-3958T>C
c.103938A>G (p.Arg34646=)
c.77832A>G (p.Arg25944=)
c.77691A>G (p.Arg25897=)
c.103734A>G (p.Arg34578=)
c.99132A>G (p.Arg33044=)
c.99129A>G (p.Arg33043=)
c.96171A>G (p.Arg32057=)
c.77787A>G (p.Arg25929=)
c.99282A>G (p.Arg33094=)
c.99279A>G (p.Arg33093=)
c.98712A>G (p.Arg32904=)
c.96054A>G (p.Arg32018=)
c.95973A>G (p.Arg31991=)
c.77736A>G (p.Arg25912=)
c.67590A>G (p.Arg22530=)
2g.178531774T>GCA349410768TTN,TTN-AS1c.97137A>C (p.Arg32379Ser)
c.78222A>C (p.Arg26074Ser)
c.78021A>C (p.Arg26007Ser)
c.77646A>C (p.Arg25882Ser)
c.104841A>C (p.Arg34947Ser)
c.99918A>C (p.Arg33306Ser)
n.446+8138T>G
n.220-3958T>G
c.103938A>C (p.Arg34646Ser)
c.77832A>C (p.Arg25944Ser)
c.77691A>C (p.Arg25897Ser)
c.103734A>C (p.Arg34578Ser)
c.99132A>C (p.Arg33044Ser)
c.99129A>C (p.Arg33043Ser)
c.96171A>C (p.Arg32057Ser)
c.77787A>C (p.Arg25929Ser)
c.99282A>C (p.Arg33094Ser)
c.99279A>C (p.Arg33093Ser)
c.98712A>C (p.Arg32904Ser)
c.96054A>C (p.Arg32018Ser)
c.95973A>C (p.Arg31991Ser)
c.77736A>C (p.Arg25912Ser)
c.67590A>C (p.Arg22530Ser)
2g.178531775C>ACA349410770TTN,TTN-AS1c.97136G>T (p.Arg32379Ile)
c.78221G>T (p.Arg26074Ile)
c.78020G>T (p.Arg26007Ile)
c.77645G>T (p.Arg25882Ile)
c.104840G>T (p.Arg34947Ile)
c.99917G>T (p.Arg33306Ile)
n.446+8139C>A
n.220-3957C>A
c.103937G>T (p.Arg34646Ile)
c.77831G>T (p.Arg25944Ile)
c.77690G>T (p.Arg25897Ile)
c.103733G>T (p.Arg34578Ile)
c.99131G>T (p.Arg33044Ile)
c.99128G>T (p.Arg33043Ile)
c.96170G>T (p.Arg32057Ile)
c.77786G>T (p.Arg25929Ile)
c.99281G>T (p.Arg33094Ile)
c.99278G>T (p.Arg33093Ile)
c.98711G>T (p.Arg32904Ile)
c.96053G>T (p.Arg32018Ile)
c.95972G>T (p.Arg31991Ile)
c.77735G>T (p.Arg25912Ile)
c.67589G>T (p.Arg22530Ile)
2g.178531775C>GCA349410771TTN,TTN-AS1c.97136G>C (p.Arg32379Thr)
c.78221G>C (p.Arg26074Thr)
c.78020G>C (p.Arg26007Thr)
c.77645G>C (p.Arg25882Thr)
c.104840G>C (p.Arg34947Thr)
c.99917G>C (p.Arg33306Thr)
n.446+8139C>G
n.220-3957C>G
c.103937G>C (p.Arg34646Thr)
c.77831G>C (p.Arg25944Thr)
c.77690G>C (p.Arg25897Thr)
c.103733G>C (p.Arg34578Thr)
c.99131G>C (p.Arg33044Thr)
c.99128G>C (p.Arg33043Thr)
c.96170G>C (p.Arg32057Thr)
c.77786G>C (p.Arg25929Thr)
c.99281G>C (p.Arg33094Thr)
c.99278G>C (p.Arg33093Thr)
c.98711G>C (p.Arg32904Thr)
c.96053G>C (p.Arg32018Thr)
c.95972G>C (p.Arg31991Thr)
c.77735G>C (p.Arg25912Thr)
c.67589G>C (p.Arg22530Thr)
2g.178531775C>TCA349410773TTN,TTN-AS1c.97136G>A (p.Arg32379Lys)
c.78221G>A (p.Arg26074Lys)
c.78020G>A (p.Arg26007Lys)
c.77645G>A (p.Arg25882Lys)
c.104840G>A (p.Arg34947Lys)
c.99917G>A (p.Arg33306Lys)
n.446+8139C>T
n.220-3957C>T
c.103937G>A (p.Arg34646Lys)
c.77831G>A (p.Arg25944Lys)
c.77690G>A (p.Arg25897Lys)
c.103733G>A (p.Arg34578Lys)
c.99131G>A (p.Arg33044Lys)
c.99128G>A (p.Arg33043Lys)
c.96170G>A (p.Arg32057Lys)
c.77786G>A (p.Arg25929Lys)
c.99281G>A (p.Arg33094Lys)
c.99278G>A (p.Arg33093Lys)
c.98711G>A (p.Arg32904Lys)
c.96053G>A (p.Arg32018Lys)
c.95972G>A (p.Arg31991Lys)
c.77735G>A (p.Arg25912Lys)
c.67589G>A (p.Arg22530Lys)
 gnomAD v4
2g.178531776T>ACA349410774TTN,TTN-AS1c.97135A>T (p.Arg32379Ter)
c.78220A>T (p.Arg26074Ter)
c.78019A>T (p.Arg26007Ter)
c.77644A>T (p.Arg25882Ter)
c.104839A>T (p.Arg34947Ter)
c.99916A>T (p.Arg33306Ter)
n.446+8140T>A
n.220-3956T>A
c.103936A>T (p.Arg34646Ter)
c.77830A>T (p.Arg25944Ter)
c.77689A>T (p.Arg25897Ter)
c.103732A>T (p.Arg34578Ter)
c.99130A>T (p.Arg33044Ter)
c.99127A>T (p.Arg33043Ter)
c.96169A>T (p.Arg32057Ter)
c.77785A>T (p.Arg25929Ter)
c.99280A>T (p.Arg33094Ter)
c.99277A>T (p.Arg33093Ter)
c.98710A>T (p.Arg32904Ter)
c.96052A>T (p.Arg32018Ter)
c.95971A>T (p.Arg31991Ter)
c.77734A>T (p.Arg25912Ter)
c.67588A>T (p.Arg22530Ter)
2g.178531776T>CCA349410775TTN,TTN-AS1c.97135A>G (p.Arg32379Gly)
c.78220A>G (p.Arg26074Gly)
c.78019A>G (p.Arg26007Gly)
c.77644A>G (p.Arg25882Gly)
c.104839A>G (p.Arg34947Gly)
c.99916A>G (p.Arg33306Gly)
n.446+8140T>C
n.220-3956T>C
c.103936A>G (p.Arg34646Gly)
c.77830A>G (p.Arg25944Gly)
c.77689A>G (p.Arg25897Gly)
c.103732A>G (p.Arg34578Gly)
c.99130A>G (p.Arg33044Gly)
c.99127A>G (p.Arg33043Gly)
c.96169A>G (p.Arg32057Gly)
c.77785A>G (p.Arg25929Gly)
c.99280A>G (p.Arg33094Gly)
c.99277A>G (p.Arg33093Gly)
c.98710A>G (p.Arg32904Gly)
c.96052A>G (p.Arg32018Gly)
c.95971A>G (p.Arg31991Gly)
c.77734A>G (p.Arg25912Gly)
c.67588A>G (p.Arg22530Gly)
2g.178531776T>GCA430235367TTN,TTN-AS1c.97135A>C (p.Arg32379=)
c.78220A>C (p.Arg26074=)
c.78019A>C (p.Arg26007=)
c.77644A>C (p.Arg25882=)
c.104839A>C (p.Arg34947=)
c.99916A>C (p.Arg33306=)
n.446+8140T>G
n.220-3956T>G
c.103936A>C (p.Arg34646=)
c.77830A>C (p.Arg25944=)
c.77689A>C (p.Arg25897=)
c.103732A>C (p.Arg34578=)
c.99130A>C (p.Arg33044=)
c.99127A>C (p.Arg33043=)
c.96169A>C (p.Arg32057=)
c.77785A>C (p.Arg25929=)
c.99280A>C (p.Arg33094=)
c.99277A>C (p.Arg33093=)
c.98710A>C (p.Arg32904=)
c.96052A>C (p.Arg32018=)
c.95971A>C (p.Arg31991=)
c.77734A>C (p.Arg25912=)
c.67588A>C (p.Arg22530=)
2g.178531777C>ACA430235368TTN,TTN-AS1c.97134G>T (p.Leu32378=)
c.78219G>T (p.Leu26073=)
c.78018G>T (p.Leu26006=)
c.77643G>T (p.Leu25881=)
c.104838G>T (p.Leu34946=)
c.99915G>T (p.Leu33305=)
n.446+8141C>A
n.220-3955C>A
c.103935G>T (p.Leu34645=)
c.77829G>T (p.Leu25943=)
c.77688G>T (p.Leu25896=)
c.103731G>T (p.Leu34577=)
c.99129G>T (p.Leu33043=)
c.99126G>T (p.Leu33042=)
c.96168G>T (p.Leu32056=)
c.77784G>T (p.Leu25928=)
c.99279G>T (p.Leu33093=)
c.99276G>T (p.Leu33092=)
c.98709G>T (p.Leu32903=)
c.96051G>T (p.Leu32017=)
c.95970G>T (p.Leu31990=)
c.77733G>T (p.Leu25911=)
c.67587G>T (p.Leu22529=)
2g.178531777C=CA1310517922TTN,TTN-AS1c.97134G= (p.Leu32378=)
c.78219G= (p.Leu26073=)
c.78018G= (p.Leu26006=)
c.77643G= (p.Leu25881=)
c.104838G= (p.Leu34946=)
c.99915G= (p.Leu33305=)
n.446+8141C=
n.220-3955C=
c.103935G= (p.Leu34645=)
c.77829G= (p.Leu25943=)
c.77688G= (p.Leu25896=)
c.103731G= (p.Leu34577=)
c.99129G= (p.Leu33043=)
c.99126G= (p.Leu33042=)
c.96168G= (p.Leu32056=)
c.77784G= (p.Leu25928=)
c.99279G= (p.Leu33093=)
c.99276G= (p.Leu33092=)
c.98709G= (p.Leu32903=)
c.96051G= (p.Leu32017=)
c.95970G= (p.Leu31990=)
c.77733G= (p.Leu25911=)
c.67587G= (p.Leu22529=)
2g.178531777C>GCA430235369TTN,TTN-AS1c.97134G>C (p.Leu32378=)
c.78219G>C (p.Leu26073=)
c.78018G>C (p.Leu26006=)
c.77643G>C (p.Leu25881=)
c.104838G>C (p.Leu34946=)
c.99915G>C (p.Leu33305=)
n.446+8141C>G
n.220-3955C>G
c.103935G>C (p.Leu34645=)
c.77829G>C (p.Leu25943=)
c.77688G>C (p.Leu25896=)
c.103731G>C (p.Leu34577=)
c.99129G>C (p.Leu33043=)
c.99126G>C (p.Leu33042=)
c.96168G>C (p.Leu32056=)
c.77784G>C (p.Leu25928=)
c.99279G>C (p.Leu33093=)
c.99276G>C (p.Leu33092=)
c.98709G>C (p.Leu32903=)
c.96051G>C (p.Leu32017=)
c.95970G>C (p.Leu31990=)
c.77733G>C (p.Leu25911=)
c.67587G>C (p.Leu22529=)
2g.178531777C>TCA60955919TTN,TTN-AS1c.97134G>A (p.Leu32378=)
c.78219G>A (p.Leu26073=)
c.78018G>A (p.Leu26006=)
c.77643G>A (p.Leu25881=)
c.104838G>A (p.Leu34946=)
c.99915G>A (p.Leu33305=)
n.446+8141C>T
n.220-3955C>T
c.103935G>A (p.Leu34645=)
c.77829G>A (p.Leu25943=)
c.77688G>A (p.Leu25896=)
c.103731G>A (p.Leu34577=)
c.99129G>A (p.Leu33043=)
c.99126G>A (p.Leu33042=)
c.96168G>A (p.Leu32056=)
c.77784G>A (p.Leu25928=)
c.99279G>A (p.Leu33093=)
c.99276G>A (p.Leu33092=)
c.98709G>A (p.Leu32903=)
c.96051G>A (p.Leu32017=)
c.95970G>A (p.Leu31990=)
c.77733G>A (p.Leu25911=)
c.67587G>A (p.Leu22529=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178531778A=CA1310517923TTN,TTN-AS1c.97133T= (p.Leu32378=)
c.78218T= (p.Leu26073=)
c.78017T= (p.Leu26006=)
c.77642T= (p.Leu25881=)
c.104837T= (p.Leu34946=)
c.99914T= (p.Leu33305=)
n.446+8142A=
n.220-3954A=
c.103934T= (p.Leu34645=)
c.77828T= (p.Leu25943=)
c.77687T= (p.Leu25896=)
c.103730T= (p.Leu34577=)
c.99128T= (p.Leu33043=)
c.99125T= (p.Leu33042=)
c.96167T= (p.Leu32056=)
c.77783T= (p.Leu25928=)
c.99278T= (p.Leu33093=)
c.99275T= (p.Leu33092=)
c.98708T= (p.Leu32903=)
c.96050T= (p.Leu32017=)
c.95969T= (p.Leu31990=)
c.77732T= (p.Leu25911=)
c.67586T= (p.Leu22529=)
2g.178531778A>CCA349410779TTN,TTN-AS1c.97133T>G (p.Leu32378Arg)
c.78218T>G (p.Leu26073Arg)
c.78017T>G (p.Leu26006Arg)
c.77642T>G (p.Leu25881Arg)
c.104837T>G (p.Leu34946Arg)
c.99914T>G (p.Leu33305Arg)
n.446+8142A>C
n.220-3954A>C
c.103934T>G (p.Leu34645Arg)
c.77828T>G (p.Leu25943Arg)
c.77687T>G (p.Leu25896Arg)
c.103730T>G (p.Leu34577Arg)
c.99128T>G (p.Leu33043Arg)
c.99125T>G (p.Leu33042Arg)
c.96167T>G (p.Leu32056Arg)
c.77783T>G (p.Leu25928Arg)
c.99278T>G (p.Leu33093Arg)
c.99275T>G (p.Leu33092Arg)
c.98708T>G (p.Leu32903Arg)
c.96050T>G (p.Leu32017Arg)
c.95969T>G (p.Leu31990Arg)
c.77732T>G (p.Leu25911Arg)
c.67586T>G (p.Leu22529Arg)
 ClinVar dbSNP gnomAD v4
2g.178531778A>GCA349410780TTN,TTN-AS1c.97133T>C (p.Leu32378Pro)
c.78218T>C (p.Leu26073Pro)
c.78017T>C (p.Leu26006Pro)
c.77642T>C (p.Leu25881Pro)
c.104837T>C (p.Leu34946Pro)
c.99914T>C (p.Leu33305Pro)
n.446+8142A>G
n.220-3954A>G
c.103934T>C (p.Leu34645Pro)
c.77828T>C (p.Leu25943Pro)
c.77687T>C (p.Leu25896Pro)
c.103730T>C (p.Leu34577Pro)
c.99128T>C (p.Leu33043Pro)
c.99125T>C (p.Leu33042Pro)
c.96167T>C (p.Leu32056Pro)
c.77783T>C (p.Leu25928Pro)
c.99278T>C (p.Leu33093Pro)
c.99275T>C (p.Leu33092Pro)
c.98708T>C (p.Leu32903Pro)
c.96050T>C (p.Leu32017Pro)
c.95969T>C (p.Leu31990Pro)
c.77732T>C (p.Leu25911Pro)
c.67586T>C (p.Leu22529Pro)
2g.178531778A>TCA349410782TTN,TTN-AS1c.97133T>A (p.Leu32378Gln)
c.78218T>A (p.Leu26073Gln)
c.78017T>A (p.Leu26006Gln)
c.77642T>A (p.Leu25881Gln)
c.104837T>A (p.Leu34946Gln)
c.99914T>A (p.Leu33305Gln)
n.446+8142A>T
n.220-3954A>T
c.103934T>A (p.Leu34645Gln)
c.77828T>A (p.Leu25943Gln)
c.77687T>A (p.Leu25896Gln)
c.103730T>A (p.Leu34577Gln)
c.99128T>A (p.Leu33043Gln)
c.99125T>A (p.Leu33042Gln)
c.96167T>A (p.Leu32056Gln)
c.77783T>A (p.Leu25928Gln)
c.99278T>A (p.Leu33093Gln)
c.99275T>A (p.Leu33092Gln)
c.98708T>A (p.Leu32903Gln)
c.96050T>A (p.Leu32017Gln)
c.95969T>A (p.Leu31990Gln)
c.77732T>A (p.Leu25911Gln)
c.67586T>A (p.Leu22529Gln)
 ClinVar
2g.178531779G>ACA430235370TTN,TTN-AS1c.97132C>T (p.Leu32378=)
c.78217C>T (p.Leu26073=)
c.78016C>T (p.Leu26006=)
c.77641C>T (p.Leu25881=)
c.104836C>T (p.Leu34946=)
c.99913C>T (p.Leu33305=)
n.446+8143G>A
n.220-3953G>A
c.103933C>T (p.Leu34645=)
c.77827C>T (p.Leu25943=)
c.77686C>T (p.Leu25896=)
c.103729C>T (p.Leu34577=)
c.99127C>T (p.Leu33043=)
c.99124C>T (p.Leu33042=)
c.96166C>T (p.Leu32056=)
c.77782C>T (p.Leu25928=)
c.99277C>T (p.Leu33093=)
c.99274C>T (p.Leu33092=)
c.98707C>T (p.Leu32903=)
c.96049C>T (p.Leu32017=)
c.95968C>T (p.Leu31990=)
c.77731C>T (p.Leu25911=)
c.67585C>T (p.Leu22529=)
 dbSNP
2g.178531779G>CCA349410783TTN,TTN-AS1c.97132C>G (p.Leu32378Val)
c.78217C>G (p.Leu26073Val)
c.78016C>G (p.Leu26006Val)
c.77641C>G (p.Leu25881Val)
c.104836C>G (p.Leu34946Val)
c.99913C>G (p.Leu33305Val)
n.446+8143G>C
n.220-3953G>C
c.103933C>G (p.Leu34645Val)
c.77827C>G (p.Leu25943Val)
c.77686C>G (p.Leu25896Val)
c.103729C>G (p.Leu34577Val)
c.99127C>G (p.Leu33043Val)
c.99124C>G (p.Leu33042Val)
c.96166C>G (p.Leu32056Val)
c.77782C>G (p.Leu25928Val)
c.99277C>G (p.Leu33093Val)
c.99274C>G (p.Leu33092Val)
c.98707C>G (p.Leu32903Val)
c.96049C>G (p.Leu32017Val)
c.95968C>G (p.Leu31990Val)
c.77731C>G (p.Leu25911Val)
c.67585C>G (p.Leu22529Val)
2g.178531779G>TCA349410785TTN,TTN-AS1c.97132C>A (p.Leu32378Met)
c.78217C>A (p.Leu26073Met)
c.78016C>A (p.Leu26006Met)
c.77641C>A (p.Leu25881Met)
c.104836C>A (p.Leu34946Met)
c.99913C>A (p.Leu33305Met)
n.446+8143G>T
n.220-3953G>T
c.103933C>A (p.Leu34645Met)
c.77827C>A (p.Leu25943Met)
c.77686C>A (p.Leu25896Met)
c.103729C>A (p.Leu34577Met)
c.99127C>A (p.Leu33043Met)
c.99124C>A (p.Leu33042Met)
c.96166C>A (p.Leu32056Met)
c.77782C>A (p.Leu25928Met)
c.99277C>A (p.Leu33093Met)
c.99274C>A (p.Leu33092Met)
c.98707C>A (p.Leu32903Met)
c.96049C>A (p.Leu32017Met)
c.95968C>A (p.Leu31990Met)
c.77731C>A (p.Leu25911Met)
c.67585C>A (p.Leu22529Met)
2g.178531782_178531783delCA2586965149TTN,TTN-AS1c.97131_97132del (p.Leu32378GlufsTer22)
c.78216_78217del (p.Leu26073GlufsTer22)
c.78015_78016del (p.Leu26006GlufsTer22)
c.77640_77641del (p.Leu25881GlufsTer22)
c.104835_104836del (p.Leu34946GlufsTer22)
c.99912_99913del (p.Leu33305GlufsTer22)
n.446+8146_446+8147del
n.220-3950_220-3949del
c.103932_103933del (p.Leu34645GlufsTer22)
c.77826_77827del (p.Leu25943GlufsTer22)
c.77685_77686del (p.Leu25896GlufsTer22)
c.103728_103729del (p.Leu34577GlufsTer22)
c.99126_99127del (p.Leu33043GlufsTer22)
c.99123_99124del (p.Leu33042GlufsTer22)
c.96165_96166del (p.Leu32056GlufsTer22)
c.77781_77782del (p.Leu25928GlufsTer22)
c.99276_99277del (p.Leu33093GlufsTer22)
c.99273_99274del (p.Leu33092GlufsTer22)
c.98706_98707del (p.Leu32903GlufsTer22)
c.96048_96049del (p.Leu32017GlufsTer22)
c.95967_95968del (p.Leu31990GlufsTer22)
c.77730_77731del (p.Leu25911GlufsTer22)
c.67584_67585del (p.Leu22529GlufsTer22)
2g.178531780T>ACA430235371TTN,TTN-AS1c.97131A>T (p.Thr32377=)
c.78216A>T (p.Thr26072=)
c.78015A>T (p.Thr26005=)
c.77640A>T (p.Thr25880=)
c.104835A>T (p.Thr34945=)
c.99912A>T (p.Thr33304=)
n.446+8144T>A
n.220-3952T>A
c.103932A>T (p.Thr34644=)
c.77826A>T (p.Thr25942=)
c.77685A>T (p.Thr25895=)
c.103728A>T (p.Thr34576=)
c.99126A>T (p.Thr33042=)
c.99123A>T (p.Thr33041=)
c.96165A>T (p.Thr32055=)
c.77781A>T (p.Thr25927=)
c.99276A>T (p.Thr33092=)
c.99273A>T (p.Thr33091=)
c.98706A>T (p.Thr32902=)
c.96048A>T (p.Thr32016=)
c.95967A>T (p.Thr31989=)
c.77730A>T (p.Thr25910=)
c.67584A>T (p.Thr22528=)
2g.178531780T>CCA430235372TTN,TTN-AS1c.97131A>G (p.Thr32377=)
c.78216A>G (p.Thr26072=)
c.78015A>G (p.Thr26005=)
c.77640A>G (p.Thr25880=)
c.104835A>G (p.Thr34945=)
c.99912A>G (p.Thr33304=)
n.446+8144T>C
n.220-3952T>C
c.103932A>G (p.Thr34644=)
c.77826A>G (p.Thr25942=)
c.77685A>G (p.Thr25895=)
c.103728A>G (p.Thr34576=)
c.99126A>G (p.Thr33042=)
c.99123A>G (p.Thr33041=)
c.96165A>G (p.Thr32055=)
c.77781A>G (p.Thr25927=)
c.99276A>G (p.Thr33092=)
c.99273A>G (p.Thr33091=)
c.98706A>G (p.Thr32902=)
c.96048A>G (p.Thr32016=)
c.95967A>G (p.Thr31989=)
c.77730A>G (p.Thr25910=)
c.67584A>G (p.Thr22528=)
 gnomAD v4
2g.178531780T>GCA430235373TTN,TTN-AS1c.97131A>C (p.Thr32377=)
c.78216A>C (p.Thr26072=)
c.78015A>C (p.Thr26005=)
c.77640A>C (p.Thr25880=)
c.104835A>C (p.Thr34945=)
c.99912A>C (p.Thr33304=)
n.446+8144T>G
n.220-3952T>G
c.103932A>C (p.Thr34644=)
c.77826A>C (p.Thr25942=)
c.77685A>C (p.Thr25895=)
c.103728A>C (p.Thr34576=)
c.99126A>C (p.Thr33042=)
c.99123A>C (p.Thr33041=)
c.96165A>C (p.Thr32055=)
c.77781A>C (p.Thr25927=)
c.99276A>C (p.Thr33092=)
c.99273A>C (p.Thr33091=)
c.98706A>C (p.Thr32902=)
c.96048A>C (p.Thr32016=)
c.95967A>C (p.Thr31989=)
c.77730A>C (p.Thr25910=)
c.67584A>C (p.Thr22528=)
2g.178531781G>ACA349410786TTN,TTN-AS1c.97130C>T (p.Thr32377Ile)
c.78215C>T (p.Thr26072Ile)
c.78014C>T (p.Thr26005Ile)
c.77639C>T (p.Thr25880Ile)
c.104834C>T (p.Thr34945Ile)
c.99911C>T (p.Thr33304Ile)
n.446+8145G>A
n.220-3951G>A
c.103931C>T (p.Thr34644Ile)
c.77825C>T (p.Thr25942Ile)
c.77684C>T (p.Thr25895Ile)
c.103727C>T (p.Thr34576Ile)
c.99125C>T (p.Thr33042Ile)
c.99122C>T (p.Thr33041Ile)
c.96164C>T (p.Thr32055Ile)
c.77780C>T (p.Thr25927Ile)
c.99275C>T (p.Thr33092Ile)
c.99272C>T (p.Thr33091Ile)
c.98705C>T (p.Thr32902Ile)
c.96047C>T (p.Thr32016Ile)
c.95966C>T (p.Thr31989Ile)
c.77729C>T (p.Thr25910Ile)
c.67583C>T (p.Thr22528Ile)
 dbSNP
2g.178531781G>CCA349410788TTN,TTN-AS1c.97130C>G (p.Thr32377Arg)
c.78215C>G (p.Thr26072Arg)
c.78014C>G (p.Thr26005Arg)
c.77639C>G (p.Thr25880Arg)
c.104834C>G (p.Thr34945Arg)
c.99911C>G (p.Thr33304Arg)
n.446+8145G>C
n.220-3951G>C
c.103931C>G (p.Thr34644Arg)
c.77825C>G (p.Thr25942Arg)
c.77684C>G (p.Thr25895Arg)
c.103727C>G (p.Thr34576Arg)
c.99125C>G (p.Thr33042Arg)
c.99122C>G (p.Thr33041Arg)
c.96164C>G (p.Thr32055Arg)
c.77780C>G (p.Thr25927Arg)
c.99275C>G (p.Thr33092Arg)
c.99272C>G (p.Thr33091Arg)
c.98705C>G (p.Thr32902Arg)
c.96047C>G (p.Thr32016Arg)
c.95966C>G (p.Thr31989Arg)
c.77729C>G (p.Thr25910Arg)
c.67583C>G (p.Thr22528Arg)
2g.178531781G=CA1310517924TTN,TTN-AS1c.97130C= (p.Thr32377=)
c.78215C= (p.Thr26072=)
c.78014C= (p.Thr26005=)
c.77639C= (p.Thr25880=)
c.104834C= (p.Thr34945=)
c.99911C= (p.Thr33304=)
n.446+8145G=
n.220-3951G=
c.103931C= (p.Thr34644=)
c.77825C= (p.Thr25942=)
c.77684C= (p.Thr25895=)
c.103727C= (p.Thr34576=)
c.99125C= (p.Thr33042=)
c.99122C= (p.Thr33041=)
c.96164C= (p.Thr32055=)
c.77780C= (p.Thr25927=)
c.99275C= (p.Thr33092=)
c.99272C= (p.Thr33091=)
c.98705C= (p.Thr32902=)
c.96047C= (p.Thr32016=)
c.95966C= (p.Thr31989=)
c.77729C= (p.Thr25910=)
c.67583C= (p.Thr22528=)
2g.178531781G>TCA349410789TTN,TTN-AS1c.97130C>A (p.Thr32377Lys)
c.78215C>A (p.Thr26072Lys)
c.78014C>A (p.Thr26005Lys)
c.77639C>A (p.Thr25880Lys)
c.104834C>A (p.Thr34945Lys)
c.99911C>A (p.Thr33304Lys)
n.446+8145G>T
n.220-3951G>T
c.103931C>A (p.Thr34644Lys)
c.77825C>A (p.Thr25942Lys)
c.77684C>A (p.Thr25895Lys)
c.103727C>A (p.Thr34576Lys)
c.99125C>A (p.Thr33042Lys)
c.99122C>A (p.Thr33041Lys)
c.96164C>A (p.Thr32055Lys)
c.77780C>A (p.Thr25927Lys)
c.99275C>A (p.Thr33092Lys)
c.99272C>A (p.Thr33091Lys)
c.98705C>A (p.Thr32902Lys)
c.96047C>A (p.Thr32016Lys)
c.95966C>A (p.Thr31989Lys)
c.77729C>A (p.Thr25910Lys)
c.67583C>A (p.Thr22528Lys)
2g.178531782T>ACA349410791TTN,TTN-AS1c.97129A>T (p.Thr32377Ser)
c.78214A>T (p.Thr26072Ser)
c.78013A>T (p.Thr26005Ser)
c.77638A>T (p.Thr25880Ser)
c.104833A>T (p.Thr34945Ser)
c.99910A>T (p.Thr33304Ser)
n.446+8146T>A
n.220-3950T>A
c.103930A>T (p.Thr34644Ser)
c.77824A>T (p.Thr25942Ser)
c.77683A>T (p.Thr25895Ser)
c.103726A>T (p.Thr34576Ser)
c.99124A>T (p.Thr33042Ser)
c.99121A>T (p.Thr33041Ser)
c.96163A>T (p.Thr32055Ser)
c.77779A>T (p.Thr25927Ser)
c.99274A>T (p.Thr33092Ser)
c.99271A>T (p.Thr33091Ser)
c.98704A>T (p.Thr32902Ser)
c.96046A>T (p.Thr32016Ser)
c.95965A>T (p.Thr31989Ser)
c.77728A>T (p.Thr25910Ser)
c.67582A>T (p.Thr22528Ser)
2g.178531782T>CCA349410793TTN,TTN-AS1c.97129A>G (p.Thr32377Ala)
c.78214A>G (p.Thr26072Ala)
c.78013A>G (p.Thr26005Ala)
c.77638A>G (p.Thr25880Ala)
c.104833A>G (p.Thr34945Ala)
c.99910A>G (p.Thr33304Ala)
n.446+8146T>C
n.220-3950T>C
c.103930A>G (p.Thr34644Ala)
c.77824A>G (p.Thr25942Ala)
c.77683A>G (p.Thr25895Ala)
c.103726A>G (p.Thr34576Ala)
c.99124A>G (p.Thr33042Ala)
c.99121A>G (p.Thr33041Ala)
c.96163A>G (p.Thr32055Ala)
c.77779A>G (p.Thr25927Ala)
c.99274A>G (p.Thr33092Ala)
c.99271A>G (p.Thr33091Ala)
c.98704A>G (p.Thr32902Ala)
c.96046A>G (p.Thr32016Ala)
c.95965A>G (p.Thr31989Ala)
c.77728A>G (p.Thr25910Ala)
c.67582A>G (p.Thr22528Ala)
2g.178531782T>GCA349410795TTN,TTN-AS1c.97129A>C (p.Thr32377Pro)
c.78214A>C (p.Thr26072Pro)
c.78013A>C (p.Thr26005Pro)
c.77638A>C (p.Thr25880Pro)
c.104833A>C (p.Thr34945Pro)
c.99910A>C (p.Thr33304Pro)
n.446+8146T>G
n.220-3950T>G
c.103930A>C (p.Thr34644Pro)
c.77824A>C (p.Thr25942Pro)
c.77683A>C (p.Thr25895Pro)
c.103726A>C (p.Thr34576Pro)
c.99124A>C (p.Thr33042Pro)
c.99121A>C (p.Thr33041Pro)
c.96163A>C (p.Thr32055Pro)
c.77779A>C (p.Thr25927Pro)
c.99274A>C (p.Thr33092Pro)
c.99271A>C (p.Thr33091Pro)
c.98704A>C (p.Thr32902Pro)
c.96046A>C (p.Thr32016Pro)
c.95965A>C (p.Thr31989Pro)
c.77728A>C (p.Thr25910Pro)
c.67582A>C (p.Thr22528Pro)
2g.178531783G>ACA430235375TTN,TTN-AS1c.97128C>T (p.Ile32376=)
c.78213C>T (p.Ile26071=)
c.78012C>T (p.Ile26004=)
c.77637C>T (p.Ile25879=)
c.104832C>T (p.Ile34944=)
c.99909C>T (p.Ile33303=)
n.446+8147G>A
n.220-3949G>A
c.103929C>T (p.Ile34643=)
c.77823C>T (p.Ile25941=)
c.77682C>T (p.Ile25894=)
c.103725C>T (p.Ile34575=)
c.99123C>T (p.Ile33041=)
c.99120C>T (p.Ile33040=)
c.96162C>T (p.Ile32054=)
c.77778C>T (p.Ile25926=)
c.99273C>T (p.Ile33091=)
c.99270C>T (p.Ile33090=)
c.98703C>T (p.Ile32901=)
c.96045C>T (p.Ile32015=)
c.95964C>T (p.Ile31988=)
c.77727C>T (p.Ile25909=)
c.67581C>T (p.Ile22527=)
2g.178531783G>CCA349410797TTN,TTN-AS1c.97128C>G (p.Ile32376Met)
c.78213C>G (p.Ile26071Met)
c.78012C>G (p.Ile26004Met)
c.77637C>G (p.Ile25879Met)
c.104832C>G (p.Ile34944Met)
c.99909C>G (p.Ile33303Met)
n.446+8147G>C
n.220-3949G>C
c.103929C>G (p.Ile34643Met)
c.77823C>G (p.Ile25941Met)
c.77682C>G (p.Ile25894Met)
c.103725C>G (p.Ile34575Met)
c.99123C>G (p.Ile33041Met)
c.99120C>G (p.Ile33040Met)
c.96162C>G (p.Ile32054Met)
c.77778C>G (p.Ile25926Met)
c.99273C>G (p.Ile33091Met)
c.99270C>G (p.Ile33090Met)
c.98703C>G (p.Ile32901Met)
c.96045C>G (p.Ile32015Met)
c.95964C>G (p.Ile31988Met)
c.77727C>G (p.Ile25909Met)
c.67581C>G (p.Ile22527Met)
2g.178531783G>TCA430235376TTN,TTN-AS1c.97128C>A (p.Ile32376=)
c.78213C>A (p.Ile26071=)
c.78012C>A (p.Ile26004=)
c.77637C>A (p.Ile25879=)
c.104832C>A (p.Ile34944=)
c.99909C>A (p.Ile33303=)
n.446+8147G>T
n.220-3949G>T
c.103929C>A (p.Ile34643=)
c.77823C>A (p.Ile25941=)
c.77682C>A (p.Ile25894=)
c.103725C>A (p.Ile34575=)
c.99123C>A (p.Ile33041=)
c.99120C>A (p.Ile33040=)
c.96162C>A (p.Ile32054=)
c.77778C>A (p.Ile25926=)
c.99273C>A (p.Ile33091=)
c.99270C>A (p.Ile33090=)
c.98703C>A (p.Ile32901=)
c.96045C>A (p.Ile32015=)
c.95964C>A (p.Ile31988=)
c.77727C>A (p.Ile25909=)
c.67581C>A (p.Ile22527=)
2g.178531784A>CCA349410800TTN,TTN-AS1c.97127T>G (p.Ile32376Ser)
c.78212T>G (p.Ile26071Ser)
c.78011T>G (p.Ile26004Ser)
c.77636T>G (p.Ile25879Ser)
c.104831T>G (p.Ile34944Ser)
c.99908T>G (p.Ile33303Ser)
n.446+8148A>C
n.220-3948A>C
c.103928T>G (p.Ile34643Ser)
c.77822T>G (p.Ile25941Ser)
c.77681T>G (p.Ile25894Ser)
c.103724T>G (p.Ile34575Ser)
c.99122T>G (p.Ile33041Ser)
c.99119T>G (p.Ile33040Ser)
c.96161T>G (p.Ile32054Ser)
c.77777T>G (p.Ile25926Ser)
c.99272T>G (p.Ile33091Ser)
c.99269T>G (p.Ile33090Ser)
c.98702T>G (p.Ile32901Ser)
c.96044T>G (p.Ile32015Ser)
c.95963T>G (p.Ile31988Ser)
c.77726T>G (p.Ile25909Ser)
c.67580T>G (p.Ile22527Ser)
2g.178531784A>GCA349410799TTN,TTN-AS1c.97127T>C (p.Ile32376Thr)
c.78212T>C (p.Ile26071Thr)
c.78011T>C (p.Ile26004Thr)
c.77636T>C (p.Ile25879Thr)
c.104831T>C (p.Ile34944Thr)
c.99908T>C (p.Ile33303Thr)
n.446+8148A>G
n.220-3948A>G
c.103928T>C (p.Ile34643Thr)
c.77822T>C (p.Ile25941Thr)
c.77681T>C (p.Ile25894Thr)
c.103724T>C (p.Ile34575Thr)
c.99122T>C (p.Ile33041Thr)
c.99119T>C (p.Ile33040Thr)
c.96161T>C (p.Ile32054Thr)
c.77777T>C (p.Ile25926Thr)
c.99272T>C (p.Ile33091Thr)
c.99269T>C (p.Ile33090Thr)
c.98702T>C (p.Ile32901Thr)
c.96044T>C (p.Ile32015Thr)
c.95963T>C (p.Ile31988Thr)
c.77726T>C (p.Ile25909Thr)
c.67580T>C (p.Ile22527Thr)
2g.178531784A>TCA349410801TTN,TTN-AS1c.97127T>A (p.Ile32376Asn)
c.78212T>A (p.Ile26071Asn)
c.78011T>A (p.Ile26004Asn)
c.77636T>A (p.Ile25879Asn)
c.104831T>A (p.Ile34944Asn)
c.99908T>A (p.Ile33303Asn)
n.446+8148A>T
n.220-3948A>T
c.103928T>A (p.Ile34643Asn)
c.77822T>A (p.Ile25941Asn)
c.77681T>A (p.Ile25894Asn)
c.103724T>A (p.Ile34575Asn)
c.99122T>A (p.Ile33041Asn)
c.99119T>A (p.Ile33040Asn)
c.96161T>A (p.Ile32054Asn)
c.77777T>A (p.Ile25926Asn)
c.99272T>A (p.Ile33091Asn)
c.99269T>A (p.Ile33090Asn)
c.98702T>A (p.Ile32901Asn)
c.96044T>A (p.Ile32015Asn)
c.95963T>A (p.Ile31988Asn)
c.77726T>A (p.Ile25909Asn)
c.67580T>A (p.Ile22527Asn)
2g.178531785T>ACA349410803TTN,TTN-AS1c.97126A>T (p.Ile32376Phe)
c.78211A>T (p.Ile26071Phe)
c.78010A>T (p.Ile26004Phe)
c.77635A>T (p.Ile25879Phe)
c.104830A>T (p.Ile34944Phe)
c.99907A>T (p.Ile33303Phe)
n.446+8149T>A
n.220-3947T>A
c.103927A>T (p.Ile34643Phe)
c.77821A>T (p.Ile25941Phe)
c.77680A>T (p.Ile25894Phe)
c.103723A>T (p.Ile34575Phe)
c.99121A>T (p.Ile33041Phe)
c.99118A>T (p.Ile33040Phe)
c.96160A>T (p.Ile32054Phe)
c.77776A>T (p.Ile25926Phe)
c.99271A>T (p.Ile33091Phe)
c.99268A>T (p.Ile33090Phe)
c.98701A>T (p.Ile32901Phe)
c.96043A>T (p.Ile32015Phe)
c.95962A>T (p.Ile31988Phe)
c.77725A>T (p.Ile25909Phe)
c.67579A>T (p.Ile22527Phe)
2g.178531785T>CCA1985352TTN,TTN-AS1c.97126A>G (p.Ile32376Val)
c.78211A>G (p.Ile26071Val)
c.78010A>G (p.Ile26004Val)
c.77635A>G (p.Ile25879Val)
c.104830A>G (p.Ile34944Val)
c.99907A>G (p.Ile33303Val)
n.446+8149T>C
n.220-3947T>C
c.103927A>G (p.Ile34643Val)
c.77821A>G (p.Ile25941Val)
c.77680A>G (p.Ile25894Val)
c.103723A>G (p.Ile34575Val)
c.99121A>G (p.Ile33041Val)
c.99118A>G (p.Ile33040Val)
c.96160A>G (p.Ile32054Val)
c.77776A>G (p.Ile25926Val)
c.99271A>G (p.Ile33091Val)
c.99268A>G (p.Ile33090Val)
c.98701A>G (p.Ile32901Val)
c.96043A>G (p.Ile32015Val)
c.95962A>G (p.Ile31988Val)
c.77725A>G (p.Ile25909Val)
c.67579A>G (p.Ile22527Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178531785T>GCA349410804TTN,TTN-AS1c.97126A>C (p.Ile32376Leu)
c.78211A>C (p.Ile26071Leu)
c.78010A>C (p.Ile26004Leu)
c.77635A>C (p.Ile25879Leu)
c.104830A>C (p.Ile34944Leu)
c.99907A>C (p.Ile33303Leu)
n.446+8149T>G
n.220-3947T>G
c.103927A>C (p.Ile34643Leu)
c.77821A>C (p.Ile25941Leu)
c.77680A>C (p.Ile25894Leu)
c.103723A>C (p.Ile34575Leu)
c.99121A>C (p.Ile33041Leu)
c.99118A>C (p.Ile33040Leu)
c.96160A>C (p.Ile32054Leu)
c.77776A>C (p.Ile25926Leu)
c.99271A>C (p.Ile33091Leu)
c.99268A>C (p.Ile33090Leu)
c.98701A>C (p.Ile32901Leu)
c.96043A>C (p.Ile32015Leu)
c.95962A>C (p.Ile31988Leu)
c.77725A>C (p.Ile25909Leu)
c.67579A>C (p.Ile22527Leu)
2g.178531785T=CA1310517925TTN,TTN-AS1c.97126A= (p.Ile32376=)
c.78211A= (p.Ile26071=)
c.78010A= (p.Ile26004=)
c.77635A= (p.Ile25879=)
c.104830A= (p.Ile34944=)
c.99907A= (p.Ile33303=)
n.446+8149T=
n.220-3947T=
c.103927A= (p.Ile34643=)
c.77821A= (p.Ile25941=)
c.77680A= (p.Ile25894=)
c.103723A= (p.Ile34575=)
c.99121A= (p.Ile33041=)
c.99118A= (p.Ile33040=)
c.96160A= (p.Ile32054=)
c.77776A= (p.Ile25926=)
c.99271A= (p.Ile33091=)
c.99268A= (p.Ile33090=)
c.98701A= (p.Ile32901=)
c.96043A= (p.Ile32015=)
c.95962A= (p.Ile31988=)
c.77725A= (p.Ile25909=)
c.67579A= (p.Ile22527=)
2g.178531786T>ACA430235378TTN,TTN-AS1c.97125A>T (p.Arg32375=)
c.78210A>T (p.Arg26070=)
c.78009A>T (p.Arg26003=)
c.77634A>T (p.Arg25878=)
c.104829A>T (p.Arg34943=)
c.99906A>T (p.Arg33302=)
n.446+8150T>A
n.220-3946T>A
c.103926A>T (p.Arg34642=)
c.77820A>T (p.Arg25940=)
c.77679A>T (p.Arg25893=)
c.103722A>T (p.Arg34574=)
c.99120A>T (p.Arg33040=)
c.99117A>T (p.Arg33039=)
c.96159A>T (p.Arg32053=)
c.77775A>T (p.Arg25925=)
c.99270A>T (p.Arg33090=)
c.99267A>T (p.Arg33089=)
c.98700A>T (p.Arg32900=)
c.96042A>T (p.Arg32014=)
c.95961A>T (p.Arg31987=)
c.77724A>T (p.Arg25908=)
c.67578A>T (p.Arg22526=)
2g.178531786T>CCA430235379TTN,TTN-AS1c.97125A>G (p.Arg32375=)
c.78210A>G (p.Arg26070=)
c.78009A>G (p.Arg26003=)
c.77634A>G (p.Arg25878=)
c.104829A>G (p.Arg34943=)
c.99906A>G (p.Arg33302=)
n.446+8150T>C
n.220-3946T>C
c.103926A>G (p.Arg34642=)
c.77820A>G (p.Arg25940=)
c.77679A>G (p.Arg25893=)
c.103722A>G (p.Arg34574=)
c.99120A>G (p.Arg33040=)
c.99117A>G (p.Arg33039=)
c.96159A>G (p.Arg32053=)
c.77775A>G (p.Arg25925=)
c.99270A>G (p.Arg33090=)
c.99267A>G (p.Arg33089=)
c.98700A>G (p.Arg32900=)
c.96042A>G (p.Arg32014=)
c.95961A>G (p.Arg31987=)
c.77724A>G (p.Arg25908=)
c.67578A>G (p.Arg22526=)
2g.178531786T>GCA430235381TTN,TTN-AS1c.97125A>C (p.Arg32375=)
c.78210A>C (p.Arg26070=)
c.78009A>C (p.Arg26003=)
c.77634A>C (p.Arg25878=)
c.104829A>C (p.Arg34943=)
c.99906A>C (p.Arg33302=)
n.446+8150T>G
n.220-3946T>G
c.103926A>C (p.Arg34642=)
c.77820A>C (p.Arg25940=)
c.77679A>C (p.Arg25893=)
c.103722A>C (p.Arg34574=)
c.99120A>C (p.Arg33040=)
c.99117A>C (p.Arg33039=)
c.96159A>C (p.Arg32053=)
c.77775A>C (p.Arg25925=)
c.99270A>C (p.Arg33090=)
c.99267A>C (p.Arg33089=)
c.98700A>C (p.Arg32900=)
c.96042A>C (p.Arg32014=)
c.95961A>C (p.Arg31987=)
c.77724A>C (p.Arg25908=)
c.67578A>C (p.Arg22526=)
2g.178531787C>ACA349410807TTN,TTN-AS1c.97124G>T (p.Arg32375Leu)
c.78209G>T (p.Arg26070Leu)
c.78008G>T (p.Arg26003Leu)
c.77633G>T (p.Arg25878Leu)
c.104828G>T (p.Arg34943Leu)
c.99905G>T (p.Arg33302Leu)
n.446+8151C>A
n.220-3945C>A
c.103925G>T (p.Arg34642Leu)
c.77819G>T (p.Arg25940Leu)
c.77678G>T (p.Arg25893Leu)
c.103721G>T (p.Arg34574Leu)
c.99119G>T (p.Arg33040Leu)
c.99116G>T (p.Arg33039Leu)
c.96158G>T (p.Arg32053Leu)
c.77774G>T (p.Arg25925Leu)
c.99269G>T (p.Arg33090Leu)
c.99266G>T (p.Arg33089Leu)
c.98699G>T (p.Arg32900Leu)
c.96041G>T (p.Arg32014Leu)
c.95960G>T (p.Arg31987Leu)
c.77723G>T (p.Arg25908Leu)
c.67577G>T (p.Arg22526Leu)
2g.178531787C=CA1310517926TTN,TTN-AS1c.97124G= (p.Arg32375=)
c.78209G= (p.Arg26070=)
c.78008G= (p.Arg26003=)
c.77633G= (p.Arg25878=)
c.104828G= (p.Arg34943=)
c.99905G= (p.Arg33302=)
n.446+8151C=
n.220-3945C=
c.103925G= (p.Arg34642=)
c.77819G= (p.Arg25940=)
c.77678G= (p.Arg25893=)
c.103721G= (p.Arg34574=)
c.99119G= (p.Arg33040=)
c.99116G= (p.Arg33039=)
c.96158G= (p.Arg32053=)
c.77774G= (p.Arg25925=)
c.99269G= (p.Arg33090=)
c.99266G= (p.Arg33089=)
c.98699G= (p.Arg32900=)
c.96041G= (p.Arg32014=)
c.95960G= (p.Arg31987=)
c.77723G= (p.Arg25908=)
c.67577G= (p.Arg22526=)
2g.178531787C>GCA349410809TTN,TTN-AS1c.97124G>C (p.Arg32375Pro)
c.78209G>C (p.Arg26070Pro)
c.78008G>C (p.Arg26003Pro)
c.77633G>C (p.Arg25878Pro)
c.104828G>C (p.Arg34943Pro)
c.99905G>C (p.Arg33302Pro)
n.446+8151C>G
n.220-3945C>G
c.103925G>C (p.Arg34642Pro)
c.77819G>C (p.Arg25940Pro)
c.77678G>C (p.Arg25893Pro)
c.103721G>C (p.Arg34574Pro)
c.99119G>C (p.Arg33040Pro)
c.99116G>C (p.Arg33039Pro)
c.96158G>C (p.Arg32053Pro)
c.77774G>C (p.Arg25925Pro)
c.99269G>C (p.Arg33090Pro)
c.99266G>C (p.Arg33089Pro)
c.98699G>C (p.Arg32900Pro)
c.96041G>C (p.Arg32014Pro)
c.95960G>C (p.Arg31987Pro)
c.77723G>C (p.Arg25908Pro)
c.67577G>C (p.Arg22526Pro)
2g.178531787C>TCA1985353TTN,TTN-AS1c.97124G>A (p.Arg32375Gln)
c.78209G>A (p.Arg26070Gln)
c.78008G>A (p.Arg26003Gln)
c.77633G>A (p.Arg25878Gln)
c.104828G>A (p.Arg34943Gln)
c.99905G>A (p.Arg33302Gln)
n.446+8151C>T
n.220-3945C>T
c.103925G>A (p.Arg34642Gln)
c.77819G>A (p.Arg25940Gln)
c.77678G>A (p.Arg25893Gln)
c.103721G>A (p.Arg34574Gln)
c.99119G>A (p.Arg33040Gln)
c.99116G>A (p.Arg33039Gln)
c.96158G>A (p.Arg32053Gln)
c.77774G>A (p.Arg25925Gln)
c.99269G>A (p.Arg33090Gln)
c.99266G>A (p.Arg33089Gln)
c.98699G>A (p.Arg32900Gln)
c.96041G>A (p.Arg32014Gln)
c.95960G>A (p.Arg31987Gln)
c.77723G>A (p.Arg25908Gln)
c.67577G>A (p.Arg22526Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178531788G>ACA349410810TTN,TTN-AS1c.97123C>T (p.Arg32375Ter)
c.78208C>T (p.Arg26070Ter)
c.78007C>T (p.Arg26003Ter)
c.77632C>T (p.Arg25878Ter)
c.104827C>T (p.Arg34943Ter)
c.99904C>T (p.Arg33302Ter)
n.446+8152G>A
n.220-3944G>A
c.103924C>T (p.Arg34642Ter)
c.77818C>T (p.Arg25940Ter)
c.77677C>T (p.Arg25893Ter)
c.103720C>T (p.Arg34574Ter)
c.99118C>T (p.Arg33040Ter)
c.99115C>T (p.Arg33039Ter)
c.96157C>T (p.Arg32053Ter)
c.77773C>T (p.Arg25925Ter)
c.99268C>T (p.Arg33090Ter)
c.99265C>T (p.Arg33089Ter)
c.98698C>T (p.Arg32900Ter)
c.96040C>T (p.Arg32014Ter)
c.95959C>T (p.Arg31987Ter)
c.77722C>T (p.Arg25908Ter)
c.67576C>T (p.Arg22526Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178531788G>CCA349410812TTN,TTN-AS1c.97123C>G (p.Arg32375Gly)
c.78208C>G (p.Arg26070Gly)
c.78007C>G (p.Arg26003Gly)
c.77632C>G (p.Arg25878Gly)
c.104827C>G (p.Arg34943Gly)
c.99904C>G (p.Arg33302Gly)
n.446+8152G>C
n.220-3944G>C
c.103924C>G (p.Arg34642Gly)
c.77818C>G (p.Arg25940Gly)
c.77677C>G (p.Arg25893Gly)
c.103720C>G (p.Arg34574Gly)
c.99118C>G (p.Arg33040Gly)
c.99115C>G (p.Arg33039Gly)
c.96157C>G (p.Arg32053Gly)
c.77773C>G (p.Arg25925Gly)
c.99268C>G (p.Arg33090Gly)
c.99265C>G (p.Arg33089Gly)
c.98698C>G (p.Arg32900Gly)
c.96040C>G (p.Arg32014Gly)
c.95959C>G (p.Arg31987Gly)
c.77722C>G (p.Arg25908Gly)
c.67576C>G (p.Arg22526Gly)
2g.178531788G=CA1310517927TTN,TTN-AS1c.97123C= (p.Arg32375=)
c.78208C= (p.Arg26070=)
c.78007C= (p.Arg26003=)
c.77632C= (p.Arg25878=)
c.104827C= (p.Arg34943=)
c.99904C= (p.Arg33302=)
n.446+8152G=
n.220-3944G=
c.103924C= (p.Arg34642=)
c.77818C= (p.Arg25940=)
c.77677C= (p.Arg25893=)
c.103720C= (p.Arg34574=)
c.99118C= (p.Arg33040=)
c.99115C= (p.Arg33039=)
c.96157C= (p.Arg32053=)
c.77773C= (p.Arg25925=)
c.99268C= (p.Arg33090=)
c.99265C= (p.Arg33089=)
c.98698C= (p.Arg32900=)
c.96040C= (p.Arg32014=)
c.95959C= (p.Arg31987=)
c.77722C= (p.Arg25908=)
c.67576C= (p.Arg22526=)
2g.178531788G>TCA430235382TTN,TTN-AS1c.97123C>A (p.Arg32375=)
c.78208C>A (p.Arg26070=)
c.78007C>A (p.Arg26003=)
c.77632C>A (p.Arg25878=)
c.104827C>A (p.Arg34943=)
c.99904C>A (p.Arg33302=)
n.446+8152G>T
n.220-3944G>T
c.103924C>A (p.Arg34642=)
c.77818C>A (p.Arg25940=)
c.77677C>A (p.Arg25893=)
c.103720C>A (p.Arg34574=)
c.99118C>A (p.Arg33040=)
c.99115C>A (p.Arg33039=)
c.96157C>A (p.Arg32053=)
c.77773C>A (p.Arg25925=)
c.99268C>A (p.Arg33090=)
c.99265C>A (p.Arg33089=)
c.98698C>A (p.Arg32900=)
c.96040C>A (p.Arg32014=)
c.95959C>A (p.Arg31987=)
c.77722C>A (p.Arg25908=)
c.67576C>A (p.Arg22526=)
2g.178531789A>CCA430235385TTN,TTN-AS1c.97122T>G (p.Pro32374=)
c.78207T>G (p.Pro26069=)
c.78006T>G (p.Pro26002=)
c.77631T>G (p.Pro25877=)
c.104826T>G (p.Pro34942=)
c.99903T>G (p.Pro33301=)
n.446+8153A>C
n.220-3943A>C
c.103923T>G (p.Pro34641=)
c.77817T>G (p.Pro25939=)
c.77676T>G (p.Pro25892=)
c.103719T>G (p.Pro34573=)
c.99117T>G (p.Pro33039=)
c.99114T>G (p.Pro33038=)
c.96156T>G (p.Pro32052=)
c.77772T>G (p.Pro25924=)
c.99267T>G (p.Pro33089=)
c.99264T>G (p.Pro33088=)
c.98697T>G (p.Pro32899=)
c.96039T>G (p.Pro32013=)
c.95958T>G (p.Pro31986=)
c.77721T>G (p.Pro25907=)
c.67575T>G (p.Pro22525=)
 gnomAD v4
2g.178531789A>GCA430235384TTN,TTN-AS1c.97122T>C (p.Pro32374=)
c.78207T>C (p.Pro26069=)
c.78006T>C (p.Pro26002=)
c.77631T>C (p.Pro25877=)
c.104826T>C (p.Pro34942=)
c.99903T>C (p.Pro33301=)
n.446+8153A>G
n.220-3943A>G
c.103923T>C (p.Pro34641=)
c.77817T>C (p.Pro25939=)
c.77676T>C (p.Pro25892=)
c.103719T>C (p.Pro34573=)
c.99117T>C (p.Pro33039=)
c.99114T>C (p.Pro33038=)
c.96156T>C (p.Pro32052=)
c.77772T>C (p.Pro25924=)
c.99267T>C (p.Pro33089=)
c.99264T>C (p.Pro33088=)
c.98697T>C (p.Pro32899=)
c.96039T>C (p.Pro32013=)
c.95958T>C (p.Pro31986=)
c.77721T>C (p.Pro25907=)
c.67575T>C (p.Pro22525=)
2g.178531789A>TCA430235383TTN,TTN-AS1c.97122T>A (p.Pro32374=)
c.78207T>A (p.Pro26069=)
c.78006T>A (p.Pro26002=)
c.77631T>A (p.Pro25877=)
c.104826T>A (p.Pro34942=)
c.99903T>A (p.Pro33301=)
n.446+8153A>T
n.220-3943A>T
c.103923T>A (p.Pro34641=)
c.77817T>A (p.Pro25939=)
c.77676T>A (p.Pro25892=)
c.103719T>A (p.Pro34573=)
c.99117T>A (p.Pro33039=)
c.99114T>A (p.Pro33038=)
c.96156T>A (p.Pro32052=)
c.77772T>A (p.Pro25924=)
c.99267T>A (p.Pro33089=)
c.99264T>A (p.Pro33088=)
c.98697T>A (p.Pro32899=)
c.96039T>A (p.Pro32013=)
c.95958T>A (p.Pro31986=)
c.77721T>A (p.Pro25907=)
c.67575T>A (p.Pro22525=)
2g.178531790G>ACA349410813TTN,TTN-AS1c.97121C>T (p.Pro32374Leu)
c.78206C>T (p.Pro26069Leu)
c.78005C>T (p.Pro26002Leu)
c.77630C>T (p.Pro25877Leu)
c.104825C>T (p.Pro34942Leu)
c.99902C>T (p.Pro33301Leu)
n.446+8154G>A
n.220-3942G>A
c.103922C>T (p.Pro34641Leu)
c.77816C>T (p.Pro25939Leu)
c.77675C>T (p.Pro25892Leu)
c.103718C>T (p.Pro34573Leu)
c.99116C>T (p.Pro33039Leu)
c.99113C>T (p.Pro33038Leu)
c.96155C>T (p.Pro32052Leu)
c.77771C>T (p.Pro25924Leu)
c.99266C>T (p.Pro33089Leu)
c.99263C>T (p.Pro33088Leu)
c.98696C>T (p.Pro32899Leu)
c.96038C>T (p.Pro32013Leu)
c.95957C>T (p.Pro31986Leu)
c.77720C>T (p.Pro25907Leu)
c.67574C>T (p.Pro22525Leu)
2g.178531790G>CCA349410815TTN,TTN-AS1c.97121C>G (p.Pro32374Arg)
c.78206C>G (p.Pro26069Arg)
c.78005C>G (p.Pro26002Arg)
c.77630C>G (p.Pro25877Arg)
c.104825C>G (p.Pro34942Arg)
c.99902C>G (p.Pro33301Arg)
n.446+8154G>C
n.220-3942G>C
c.103922C>G (p.Pro34641Arg)
c.77816C>G (p.Pro25939Arg)
c.77675C>G (p.Pro25892Arg)
c.103718C>G (p.Pro34573Arg)
c.99116C>G (p.Pro33039Arg)
c.99113C>G (p.Pro33038Arg)
c.96155C>G (p.Pro32052Arg)
c.77771C>G (p.Pro25924Arg)
c.99266C>G (p.Pro33089Arg)
c.99263C>G (p.Pro33088Arg)
c.98696C>G (p.Pro32899Arg)
c.96038C>G (p.Pro32013Arg)
c.95957C>G (p.Pro31986Arg)
c.77720C>G (p.Pro25907Arg)
c.67574C>G (p.Pro22525Arg)
2g.178531790G>TCA349410816TTN,TTN-AS1c.97121C>A (p.Pro32374His)
c.78206C>A (p.Pro26069His)
c.78005C>A (p.Pro26002His)
c.77630C>A (p.Pro25877His)
c.104825C>A (p.Pro34942His)
c.99902C>A (p.Pro33301His)
n.446+8154G>T
n.220-3942G>T
c.103922C>A (p.Pro34641His)
c.77816C>A (p.Pro25939His)
c.77675C>A (p.Pro25892His)
c.103718C>A (p.Pro34573His)
c.99116C>A (p.Pro33039His)
c.99113C>A (p.Pro33038His)
c.96155C>A (p.Pro32052His)
c.77771C>A (p.Pro25924His)
c.99266C>A (p.Pro33089His)
c.99263C>A (p.Pro33088His)
c.98696C>A (p.Pro32899His)
c.96038C>A (p.Pro32013His)
c.95957C>A (p.Pro31986His)
c.77720C>A (p.Pro25907His)
c.67574C>A (p.Pro22525His)
2g.178531791G>ACA349410817TTN,TTN-AS1c.97120C>T (p.Pro32374Ser)
c.78205C>T (p.Pro26069Ser)
c.78004C>T (p.Pro26002Ser)
c.77629C>T (p.Pro25877Ser)
c.104824C>T (p.Pro34942Ser)
c.99901C>T (p.Pro33301Ser)
n.446+8155G>A
n.220-3941G>A
c.103921C>T (p.Pro34641Ser)
c.77815C>T (p.Pro25939Ser)
c.77674C>T (p.Pro25892Ser)
c.103717C>T (p.Pro34573Ser)
c.99115C>T (p.Pro33039Ser)
c.99112C>T (p.Pro33038Ser)
c.96154C>T (p.Pro32052Ser)
c.77770C>T (p.Pro25924Ser)
c.99265C>T (p.Pro33089Ser)
c.99262C>T (p.Pro33088Ser)
c.98695C>T (p.Pro32899Ser)
c.96037C>T (p.Pro32013Ser)
c.95956C>T (p.Pro31986Ser)
c.77719C>T (p.Pro25907Ser)
c.67573C>T (p.Pro22525Ser)
2g.178531791G>CCA349410819TTN,TTN-AS1c.97120C>G (p.Pro32374Ala)
c.78205C>G (p.Pro26069Ala)
c.78004C>G (p.Pro26002Ala)
c.77629C>G (p.Pro25877Ala)
c.104824C>G (p.Pro34942Ala)
c.99901C>G (p.Pro33301Ala)
n.446+8155G>C
n.220-3941G>C
c.103921C>G (p.Pro34641Ala)
c.77815C>G (p.Pro25939Ala)
c.77674C>G (p.Pro25892Ala)
c.103717C>G (p.Pro34573Ala)
c.99115C>G (p.Pro33039Ala)
c.99112C>G (p.Pro33038Ala)
c.96154C>G (p.Pro32052Ala)
c.77770C>G (p.Pro25924Ala)
c.99265C>G (p.Pro33089Ala)
c.99262C>G (p.Pro33088Ala)
c.98695C>G (p.Pro32899Ala)
c.96037C>G (p.Pro32013Ala)
c.95956C>G (p.Pro31986Ala)
c.77719C>G (p.Pro25907Ala)
c.67573C>G (p.Pro22525Ala)
2g.178531791G>TCA349410820TTN,TTN-AS1c.97120C>A (p.Pro32374Thr)
c.78205C>A (p.Pro26069Thr)
c.78004C>A (p.Pro26002Thr)
c.77629C>A (p.Pro25877Thr)
c.104824C>A (p.Pro34942Thr)
c.99901C>A (p.Pro33301Thr)
n.446+8155G>T
n.220-3941G>T
c.103921C>A (p.Pro34641Thr)
c.77815C>A (p.Pro25939Thr)
c.77674C>A (p.Pro25892Thr)
c.103717C>A (p.Pro34573Thr)
c.99115C>A (p.Pro33039Thr)
c.99112C>A (p.Pro33038Thr)
c.96154C>A (p.Pro32052Thr)
c.77770C>A (p.Pro25924Thr)
c.99265C>A (p.Pro33089Thr)
c.99262C>A (p.Pro33088Thr)
c.98695C>A (p.Pro32899Thr)
c.96037C>A (p.Pro32013Thr)
c.95956C>A (p.Pro31986Thr)
c.77719C>A (p.Pro25907Thr)
c.67573C>A (p.Pro22525Thr)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178531792G>ACA430235387TTN,TTN-AS1c.97119C>T (p.Ala32373=)
c.78204C>T (p.Ala26068=)
c.78003C>T (p.Ala26001=)
c.77628C>T (p.Ala25876=)
c.104823C>T (p.Ala34941=)
c.99900C>T (p.Ala33300=)
n.446+8156G>A
n.220-3940G>A
c.103920C>T (p.Ala34640=)
c.77814C>T (p.Ala25938=)
c.77673C>T (p.Ala25891=)
c.103716C>T (p.Ala34572=)
c.99114C>T (p.Ala33038=)
c.99111C>T (p.Ala33037=)
c.96153C>T (p.Ala32051=)
c.77769C>T (p.Ala25923=)
c.99264C>T (p.Ala33088=)
c.99261C>T (p.Ala33087=)
c.98694C>T (p.Ala32898=)
c.96036C>T (p.Ala32012=)
c.95955C>T (p.Ala31985=)
c.77718C>T (p.Ala25906=)
c.67572C>T (p.Ala22524=)
 gnomAD v4
2g.178531792G>CCA430235388TTN,TTN-AS1c.97119C>G (p.Ala32373=)
c.78204C>G (p.Ala26068=)
c.78003C>G (p.Ala26001=)
c.77628C>G (p.Ala25876=)
c.104823C>G (p.Ala34941=)
c.99900C>G (p.Ala33300=)
n.446+8156G>C
n.220-3940G>C
c.103920C>G (p.Ala34640=)
c.77814C>G (p.Ala25938=)
c.77673C>G (p.Ala25891=)
c.103716C>G (p.Ala34572=)
c.99114C>G (p.Ala33038=)
c.99111C>G (p.Ala33037=)
c.96153C>G (p.Ala32051=)
c.77769C>G (p.Ala25923=)
c.99264C>G (p.Ala33088=)
c.99261C>G (p.Ala33087=)
c.98694C>G (p.Ala32898=)
c.96036C>G (p.Ala32012=)
c.95955C>G (p.Ala31985=)
c.77718C>G (p.Ala25906=)
c.67572C>G (p.Ala22524=)
2g.178531792G>TCA430235389TTN,TTN-AS1c.97119C>A (p.Ala32373=)
c.78204C>A (p.Ala26068=)
c.78003C>A (p.Ala26001=)
c.77628C>A (p.Ala25876=)
c.104823C>A (p.Ala34941=)
c.99900C>A (p.Ala33300=)
n.446+8156G>T
n.220-3940G>T
c.103920C>A (p.Ala34640=)
c.77814C>A (p.Ala25938=)
c.77673C>A (p.Ala25891=)
c.103716C>A (p.Ala34572=)
c.99114C>A (p.Ala33038=)
c.99111C>A (p.Ala33037=)
c.96153C>A (p.Ala32051=)
c.77769C>A (p.Ala25923=)
c.99264C>A (p.Ala33088=)
c.99261C>A (p.Ala33087=)
c.98694C>A (p.Ala32898=)
c.96036C>A (p.Ala32012=)
c.95955C>A (p.Ala31985=)
c.77718C>A (p.Ala25906=)
c.67572C>A (p.Ala22524=)
2g.178531792_178531793delinsTACA645515422TTN,TTN-AS1c.97118_97119delinsTA (p.Ala32373Val)
c.78203_78204delinsTA (p.Ala26068Val)
c.78002_78003delinsTA (p.Ala26001Val)
c.77627_77628delinsTA (p.Ala25876Val)
c.104822_104823delinsTA (p.Ala34941Val)
c.99899_99900delinsTA (p.Ala33300Val)
n.446+8156_446+8157delinsTA
n.220-3940_220-3939delinsTA
c.103919_103920delinsTA (p.Ala34640Val)
c.77813_77814delinsTA (p.Ala25938Val)
c.77672_77673delinsTA (p.Ala25891Val)
c.103715_103716delinsTA (p.Ala34572Val)
c.99113_99114delinsTA (p.Ala33038Val)
c.99110_99111delinsTA (p.Ala33037Val)
c.96152_96153delinsTA (p.Ala32051Val)
c.77768_77769delinsTA (p.Ala25923Val)
c.99263_99264delinsTA (p.Ala33088Val)
c.99260_99261delinsTA (p.Ala33087Val)
c.98693_98694delinsTA (p.Ala32898Val)
c.96035_96036delinsTA (p.Ala32012Val)
c.95954_95955delinsTA (p.Ala31985Val)
c.77717_77718delinsTA (p.Ala25906Val)
c.67571_67572delinsTA (p.Ala22524Val)
 COSMIC COSMIC COSMIC COSMIC
2g.178531793G>ACA349410822TTN,TTN-AS1c.97118C>T (p.Ala32373Val)
c.78203C>T (p.Ala26068Val)
c.78002C>T (p.Ala26001Val)
c.77627C>T (p.Ala25876Val)
c.104822C>T (p.Ala34941Val)
c.99899C>T (p.Ala33300Val)
n.446+8157G>A
n.220-3939G>A
c.103919C>T (p.Ala34640Val)
c.77813C>T (p.Ala25938Val)
c.77672C>T (p.Ala25891Val)
c.103715C>T (p.Ala34572Val)
c.99113C>T (p.Ala33038Val)
c.99110C>T (p.Ala33037Val)
c.96152C>T (p.Ala32051Val)
c.77768C>T (p.Ala25923Val)
c.99263C>T (p.Ala33088Val)
c.99260C>T (p.Ala33087Val)
c.98693C>T (p.Ala32898Val)
c.96035C>T (p.Ala32012Val)
c.95954C>T (p.Ala31985Val)
c.77717C>T (p.Ala25906Val)
c.67571C>T (p.Ala22524Val)
2g.178531793G>CCA349410823TTN,TTN-AS1c.97118C>G (p.Ala32373Gly)
c.78203C>G (p.Ala26068Gly)
c.78002C>G (p.Ala26001Gly)
c.77627C>G (p.Ala25876Gly)
c.104822C>G (p.Ala34941Gly)
c.99899C>G (p.Ala33300Gly)
n.446+8157G>C
n.220-3939G>C
c.103919C>G (p.Ala34640Gly)
c.77813C>G (p.Ala25938Gly)
c.77672C>G (p.Ala25891Gly)
c.103715C>G (p.Ala34572Gly)
c.99113C>G (p.Ala33038Gly)
c.99110C>G (p.Ala33037Gly)
c.96152C>G (p.Ala32051Gly)
c.77768C>G (p.Ala25923Gly)
c.99263C>G (p.Ala33088Gly)
c.99260C>G (p.Ala33087Gly)
c.98693C>G (p.Ala32898Gly)
c.96035C>G (p.Ala32012Gly)
c.95954C>G (p.Ala31985Gly)
c.77717C>G (p.Ala25906Gly)
c.67571C>G (p.Ala22524Gly)
2g.178531793G=CA1310517928TTN,TTN-AS1c.97118C= (p.Ala32373=)
c.78203C= (p.Ala26068=)
c.78002C= (p.Ala26001=)
c.77627C= (p.Ala25876=)
c.104822C= (p.Ala34941=)
c.99899C= (p.Ala33300=)
n.446+8157G=
n.220-3939G=
c.103919C= (p.Ala34640=)
c.77813C= (p.Ala25938=)
c.77672C= (p.Ala25891=)
c.103715C= (p.Ala34572=)
c.99113C= (p.Ala33038=)
c.99110C= (p.Ala33037=)
c.96152C= (p.Ala32051=)
c.77768C= (p.Ala25923=)
c.99263C= (p.Ala33088=)
c.99260C= (p.Ala33087=)
c.98693C= (p.Ala32898=)
c.96035C= (p.Ala32012=)
c.95954C= (p.Ala31985=)
c.77717C= (p.Ala25906=)
c.67571C= (p.Ala22524=)
2g.178531793G>TCA349410825TTN,TTN-AS1c.97118C>A (p.Ala32373Asp)
c.78203C>A (p.Ala26068Asp)
c.78002C>A (p.Ala26001Asp)
c.77627C>A (p.Ala25876Asp)
c.104822C>A (p.Ala34941Asp)
c.99899C>A (p.Ala33300Asp)
n.446+8157G>T
n.220-3939G>T
c.103919C>A (p.Ala34640Asp)
c.77813C>A (p.Ala25938Asp)
c.77672C>A (p.Ala25891Asp)
c.103715C>A (p.Ala34572Asp)
c.99113C>A (p.Ala33038Asp)
c.99110C>A (p.Ala33037Asp)
c.96152C>A (p.Ala32051Asp)
c.77768C>A (p.Ala25923Asp)
c.99263C>A (p.Ala33088Asp)
c.99260C>A (p.Ala33087Asp)
c.98693C>A (p.Ala32898Asp)
c.96035C>A (p.Ala32012Asp)
c.95954C>A (p.Ala31985Asp)
c.77717C>A (p.Ala25906Asp)
c.67571C>A (p.Ala22524Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178531794C>ACA349410830TTN,TTN-AS1c.97117G>T (p.Ala32373Ser)
c.78202G>T (p.Ala26068Ser)
c.78001G>T (p.Ala26001Ser)
c.77626G>T (p.Ala25876Ser)
c.104821G>T (p.Ala34941Ser)
c.99898G>T (p.Ala33300Ser)
n.446+8158C>A
n.220-3938C>A
c.103918G>T (p.Ala34640Ser)
c.77812G>T (p.Ala25938Ser)
c.77671G>T (p.Ala25891Ser)
c.103714G>T (p.Ala34572Ser)
c.99112G>T (p.Ala33038Ser)
c.99109G>T (p.Ala33037Ser)
c.96151G>T (p.Ala32051Ser)
c.77767G>T (p.Ala25923Ser)
c.99262G>T (p.Ala33088Ser)
c.99259G>T (p.Ala33087Ser)
c.98692G>T (p.Ala32898Ser)
c.96034G>T (p.Ala32012Ser)
c.95953G>T (p.Ala31985Ser)
c.77716G>T (p.Ala25906Ser)
c.67570G>T (p.Ala22524Ser)
2g.178531794C=CA1310517929TTN,TTN-AS1c.97117G= (p.Ala32373=)
c.78202G= (p.Ala26068=)
c.78001G= (p.Ala26001=)
c.77626G= (p.Ala25876=)
c.104821G= (p.Ala34941=)
c.99898G= (p.Ala33300=)
n.446+8158C=
n.220-3938C=
c.103918G= (p.Ala34640=)
c.77812G= (p.Ala25938=)
c.77671G= (p.Ala25891=)
c.103714G= (p.Ala34572=)
c.99112G= (p.Ala33038=)
c.99109G= (p.Ala33037=)
c.96151G= (p.Ala32051=)
c.77767G= (p.Ala25923=)
c.99262G= (p.Ala33088=)
c.99259G= (p.Ala33087=)
c.98692G= (p.Ala32898=)
c.96034G= (p.Ala32012=)
c.95953G= (p.Ala31985=)
c.77716G= (p.Ala25906=)
c.67570G= (p.Ala22524=)
2g.178531794C>GCA349410827TTN,TTN-AS1c.97117G>C (p.Ala32373Pro)
c.78202G>C (p.Ala26068Pro)
c.78001G>C (p.Ala26001Pro)
c.77626G>C (p.Ala25876Pro)
c.104821G>C (p.Ala34941Pro)
c.99898G>C (p.Ala33300Pro)
n.446+8158C>G
n.220-3938C>G
c.103918G>C (p.Ala34640Pro)
c.77812G>C (p.Ala25938Pro)
c.77671G>C (p.Ala25891Pro)
c.103714G>C (p.Ala34572Pro)
c.99112G>C (p.Ala33038Pro)
c.99109G>C (p.Ala33037Pro)
c.96151G>C (p.Ala32051Pro)
c.77767G>C (p.Ala25923Pro)
c.99262G>C (p.Ala33088Pro)
c.99259G>C (p.Ala33087Pro)
c.98692G>C (p.Ala32898Pro)
c.96034G>C (p.Ala32012Pro)
c.95953G>C (p.Ala31985Pro)
c.77716G>C (p.Ala25906Pro)
c.67570G>C (p.Ala22524Pro)
2g.178531794C>TCA349410829TTN,TTN-AS1c.97117G>A (p.Ala32373Thr)
c.78202G>A (p.Ala26068Thr)
c.78001G>A (p.Ala26001Thr)
c.77626G>A (p.Ala25876Thr)
c.104821G>A (p.Ala34941Thr)
c.99898G>A (p.Ala33300Thr)
n.446+8158C>T
n.220-3938C>T
c.103918G>A (p.Ala34640Thr)
c.77812G>A (p.Ala25938Thr)
c.77671G>A (p.Ala25891Thr)
c.103714G>A (p.Ala34572Thr)
c.99112G>A (p.Ala33038Thr)
c.99109G>A (p.Ala33037Thr)
c.96151G>A (p.Ala32051Thr)
c.77767G>A (p.Ala25923Thr)
c.99262G>A (p.Ala33088Thr)
c.99259G>A (p.Ala33087Thr)
c.98692G>A (p.Ala32898Thr)
c.96034G>A (p.Ala32012Thr)
c.95953G>A (p.Ala31985Thr)
c.77716G>A (p.Ala25906Thr)
c.67570G>A (p.Ala22524Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178531795A=CA1310517930TTN,TTN-AS1c.97116T= (p.His32372=)
c.78201T= (p.His26067=)
c.78000T= (p.His26000=)
c.77625T= (p.His25875=)
c.104820T= (p.His34940=)
c.99897T= (p.His33299=)
n.446+8159A=
n.220-3937A=
c.103917T= (p.His34639=)
c.77811T= (p.His25937=)
c.77670T= (p.His25890=)
c.103713T= (p.His34571=)
c.99111T= (p.His33037=)
c.99108T= (p.His33036=)
c.96150T= (p.His32050=)
c.77766T= (p.His25922=)
c.99261T= (p.His33087=)
c.99258T= (p.His33086=)
c.98691T= (p.His32897=)
c.96033T= (p.His32011=)
c.95952T= (p.His31984=)
c.77715T= (p.His25905=)
c.67569T= (p.His22523=)
2g.178531795A>CCA349410832TTN,TTN-AS1c.97116T>G (p.His32372Gln)
c.78201T>G (p.His26067Gln)
c.78000T>G (p.His26000Gln)
c.77625T>G (p.His25875Gln)
c.104820T>G (p.His34940Gln)
c.99897T>G (p.His33299Gln)
n.446+8159A>C
n.220-3937A>C
c.103917T>G (p.His34639Gln)
c.77811T>G (p.His25937Gln)
c.77670T>G (p.His25890Gln)
c.103713T>G (p.His34571Gln)
c.99111T>G (p.His33037Gln)
c.99108T>G (p.His33036Gln)
c.96150T>G (p.His32050Gln)
c.77766T>G (p.His25922Gln)
c.99261T>G (p.His33087Gln)
c.99258T>G (p.His33086Gln)
c.98691T>G (p.His32897Gln)
c.96033T>G (p.His32011Gln)
c.95952T>G (p.His31984Gln)
c.77715T>G (p.His25905Gln)
c.67569T>G (p.His22523Gln)
2g.178531795A>GCA430235390TTN,TTN-AS1c.97116T>C (p.His32372=)
c.78201T>C (p.His26067=)
c.78000T>C (p.His26000=)
c.77625T>C (p.His25875=)
c.104820T>C (p.His34940=)
c.99897T>C (p.His33299=)
n.446+8159A>G
n.220-3937A>G
c.103917T>C (p.His34639=)
c.77811T>C (p.His25937=)
c.77670T>C (p.His25890=)
c.103713T>C (p.His34571=)
c.99111T>C (p.His33037=)
c.99108T>C (p.His33036=)
c.96150T>C (p.His32050=)
c.77766T>C (p.His25922=)
c.99261T>C (p.His33087=)
c.99258T>C (p.His33086=)
c.98691T>C (p.His32897=)
c.96033T>C (p.His32011=)
c.95952T>C (p.His31984=)
c.77715T>C (p.His25905=)
c.67569T>C (p.His22523=)
 ClinVar dbSNP
2g.178531795A>TCA349410833TTN,TTN-AS1c.97116T>A (p.His32372Gln)
c.78201T>A (p.His26067Gln)
c.78000T>A (p.His26000Gln)
c.77625T>A (p.His25875Gln)
c.104820T>A (p.His34940Gln)
c.99897T>A (p.His33299Gln)
n.446+8159A>T
n.220-3937A>T
c.103917T>A (p.His34639Gln)
c.77811T>A (p.His25937Gln)
c.77670T>A (p.His25890Gln)
c.103713T>A (p.His34571Gln)
c.99111T>A (p.His33037Gln)
c.99108T>A (p.His33036Gln)
c.96150T>A (p.His32050Gln)
c.77766T>A (p.His25922Gln)
c.99261T>A (p.His33087Gln)
c.99258T>A (p.His33086Gln)
c.98691T>A (p.His32897Gln)
c.96033T>A (p.His32011Gln)
c.95952T>A (p.His31984Gln)
c.77715T>A (p.His25905Gln)
c.67569T>A (p.His22523Gln)
2g.178531796T>ACA349410835TTN,TTN-AS1c.97115A>T (p.His32372Leu)
c.78200A>T (p.His26067Leu)
c.77999A>T (p.His26000Leu)
c.77624A>T (p.His25875Leu)
c.104819A>T (p.His34940Leu)
c.99896A>T (p.His33299Leu)
n.446+8160T>A
n.220-3936T>A
c.103916A>T (p.His34639Leu)
c.77810A>T (p.His25937Leu)
c.77669A>T (p.His25890Leu)
c.103712A>T (p.His34571Leu)
c.99110A>T (p.His33037Leu)
c.99107A>T (p.His33036Leu)
c.96149A>T (p.His32050Leu)
c.77765A>T (p.His25922Leu)
c.99260A>T (p.His33087Leu)
c.99257A>T (p.His33086Leu)
c.98690A>T (p.His32897Leu)
c.96032A>T (p.His32011Leu)
c.95951A>T (p.His31984Leu)
c.77714A>T (p.His25905Leu)
c.67568A>T (p.His22523Leu)
2g.178531796T>CCA349410836TTN,TTN-AS1c.97115A>G (p.His32372Arg)
c.78200A>G (p.His26067Arg)
c.77999A>G (p.His26000Arg)
c.77624A>G (p.His25875Arg)
c.104819A>G (p.His34940Arg)
c.99896A>G (p.His33299Arg)
n.446+8160T>C
n.220-3936T>C
c.103916A>G (p.His34639Arg)
c.77810A>G (p.His25937Arg)
c.77669A>G (p.His25890Arg)
c.103712A>G (p.His34571Arg)
c.99110A>G (p.His33037Arg)
c.99107A>G (p.His33036Arg)
c.96149A>G (p.His32050Arg)
c.77765A>G (p.His25922Arg)
c.99260A>G (p.His33087Arg)
c.99257A>G (p.His33086Arg)
c.98690A>G (p.His32897Arg)
c.96032A>G (p.His32011Arg)
c.95951A>G (p.His31984Arg)
c.77714A>G (p.His25905Arg)
c.67568A>G (p.His22523Arg)
2g.178531796T>GCA349410838TTN,TTN-AS1c.97115A>C (p.His32372Pro)
c.78200A>C (p.His26067Pro)
c.77999A>C (p.His26000Pro)
c.77624A>C (p.His25875Pro)
c.104819A>C (p.His34940Pro)
c.99896A>C (p.His33299Pro)
n.446+8160T>G
n.220-3936T>G
c.103916A>C (p.His34639Pro)
c.77810A>C (p.His25937Pro)
c.77669A>C (p.His25890Pro)
c.103712A>C (p.His34571Pro)
c.99110A>C (p.His33037Pro)
c.99107A>C (p.His33036Pro)
c.96149A>C (p.His32050Pro)
c.77765A>C (p.His25922Pro)
c.99260A>C (p.His33087Pro)
c.99257A>C (p.His33086Pro)
c.98690A>C (p.His32897Pro)
c.96032A>C (p.His32011Pro)
c.95951A>C (p.His31984Pro)
c.77714A>C (p.His25905Pro)
c.67568A>C (p.His22523Pro)
2g.178531797G>ACA349410839TTN,TTN-AS1c.97114C>T (p.His32372Tyr)
c.78199C>T (p.His26067Tyr)
c.77998C>T (p.His26000Tyr)
c.77623C>T (p.His25875Tyr)
c.104818C>T (p.His34940Tyr)
c.99895C>T (p.His33299Tyr)
n.446+8161G>A
n.220-3935G>A
c.103915C>T (p.His34639Tyr)
c.77809C>T (p.His25937Tyr)
c.77668C>T (p.His25890Tyr)
c.103711C>T (p.His34571Tyr)
c.99109C>T (p.His33037Tyr)
c.99106C>T (p.His33036Tyr)
c.96148C>T (p.His32050Tyr)
c.77764C>T (p.His25922Tyr)
c.99259C>T (p.His33087Tyr)
c.99256C>T (p.His33086Tyr)
c.98689C>T (p.His32897Tyr)
c.96031C>T (p.His32011Tyr)
c.95950C>T (p.His31984Tyr)
c.77713C>T (p.His25905Tyr)
c.67567C>T (p.His22523Tyr)
2g.178531797G>CCA349410840TTN,TTN-AS1c.97114C>G (p.His32372Asp)
c.78199C>G (p.His26067Asp)
c.77998C>G (p.His26000Asp)
c.77623C>G (p.His25875Asp)
c.104818C>G (p.His34940Asp)
c.99895C>G (p.His33299Asp)
n.446+8161G>C
n.220-3935G>C
c.103915C>G (p.His34639Asp)
c.77809C>G (p.His25937Asp)
c.77668C>G (p.His25890Asp)
c.103711C>G (p.His34571Asp)
c.99109C>G (p.His33037Asp)
c.99106C>G (p.His33036Asp)
c.96148C>G (p.His32050Asp)
c.77764C>G (p.His25922Asp)
c.99259C>G (p.His33087Asp)
c.99256C>G (p.His33086Asp)
c.98689C>G (p.His32897Asp)
c.96031C>G (p.His32011Asp)
c.95950C>G (p.His31984Asp)
c.77713C>G (p.His25905Asp)
c.67567C>G (p.His22523Asp)
2g.178531797G>TCA349410841TTN,TTN-AS1c.97114C>A (p.His32372Asn)
c.78199C>A (p.His26067Asn)
c.77998C>A (p.His26000Asn)
c.77623C>A (p.His25875Asn)
c.104818C>A (p.His34940Asn)
c.99895C>A (p.His33299Asn)
n.446+8161G>T
n.220-3935G>T
c.103915C>A (p.His34639Asn)
c.77809C>A (p.His25937Asn)
c.77668C>A (p.His25890Asn)
c.103711C>A (p.His34571Asn)
c.99109C>A (p.His33037Asn)
c.99106C>A (p.His33036Asn)
c.96148C>A (p.His32050Asn)
c.77764C>A (p.His25922Asn)
c.99259C>A (p.His33087Asn)
c.99256C>A (p.His33086Asn)
c.98689C>A (p.His32897Asn)
c.96031C>A (p.His32011Asn)
c.95950C>A (p.His31984Asn)
c.77713C>A (p.His25905Asn)
c.67567C>A (p.His22523Asn)
2g.178531798G>ACA430235391TTN,TTN-AS1c.97113C>T (p.Asp32371=)
c.78198C>T (p.Asp26066=)
c.77997C>T (p.Asp25999=)
c.77622C>T (p.Asp25874=)
c.104817C>T (p.Asp34939=)
c.99894C>T (p.Asp33298=)
n.446+8162G>A
n.220-3934G>A
c.103914C>T (p.Asp34638=)
c.77808C>T (p.Asp25936=)
c.77667C>T (p.Asp25889=)
c.103710C>T (p.Asp34570=)
c.99108C>T (p.Asp33036=)
c.99105C>T (p.Asp33035=)
c.96147C>T (p.Asp32049=)
c.77763C>T (p.Asp25921=)
c.99258C>T (p.Asp33086=)
c.99255C>T (p.Asp33085=)
c.98688C>T (p.Asp32896=)
c.96030C>T (p.Asp32010=)
c.95949C>T (p.Asp31983=)
c.77712C>T (p.Asp25904=)
c.67566C>T (p.Asp22522=)
2g.178531798G>CCA349410843TTN,TTN-AS1c.97113C>G (p.Asp32371Glu)
c.78198C>G (p.Asp26066Glu)
c.77997C>G (p.Asp25999Glu)
c.77622C>G (p.Asp25874Glu)
c.104817C>G (p.Asp34939Glu)
c.99894C>G (p.Asp33298Glu)
n.446+8162G>C
n.220-3934G>C
c.103914C>G (p.Asp34638Glu)
c.77808C>G (p.Asp25936Glu)
c.77667C>G (p.Asp25889Glu)
c.103710C>G (p.Asp34570Glu)
c.99108C>G (p.Asp33036Glu)
c.99105C>G (p.Asp33035Glu)
c.96147C>G (p.Asp32049Glu)
c.77763C>G (p.Asp25921Glu)
c.99258C>G (p.Asp33086Glu)
c.99255C>G (p.Asp33085Glu)
c.98688C>G (p.Asp32896Glu)
c.96030C>G (p.Asp32010Glu)
c.95949C>G (p.Asp31983Glu)
c.77712C>G (p.Asp25904Glu)
c.67566C>G (p.Asp22522Glu)
2g.178531798G>TCA349410844TTN,TTN-AS1c.97113C>A (p.Asp32371Glu)
c.78198C>A (p.Asp26066Glu)
c.77997C>A (p.Asp25999Glu)
c.77622C>A (p.Asp25874Glu)
c.104817C>A (p.Asp34939Glu)
c.99894C>A (p.Asp33298Glu)
n.446+8162G>T
n.220-3934G>T
c.103914C>A (p.Asp34638Glu)
c.77808C>A (p.Asp25936Glu)
c.77667C>A (p.Asp25889Glu)
c.103710C>A (p.Asp34570Glu)
c.99108C>A (p.Asp33036Glu)
c.99105C>A (p.Asp33035Glu)
c.96147C>A (p.Asp32049Glu)
c.77763C>A (p.Asp25921Glu)
c.99258C>A (p.Asp33086Glu)
c.99255C>A (p.Asp33085Glu)
c.98688C>A (p.Asp32896Glu)
c.96030C>A (p.Asp32010Glu)
c.95949C>A (p.Asp31983Glu)
c.77712C>A (p.Asp25904Glu)
c.67566C>A (p.Asp22522Glu)
2g.178531799T>ACA349410848TTN,TTN-AS1c.97112A>T (p.Asp32371Val)
c.78197A>T (p.Asp26066Val)
c.77996A>T (p.Asp25999Val)
c.77621A>T (p.Asp25874Val)
c.104816A>T (p.Asp34939Val)
c.99893A>T (p.Asp33298Val)
n.446+8163T>A
n.220-3933T>A
c.103913A>T (p.Asp34638Val)
c.77807A>T (p.Asp25936Val)
c.77666A>T (p.Asp25889Val)
c.103709A>T (p.Asp34570Val)
c.99107A>T (p.Asp33036Val)
c.99104A>T (p.Asp33035Val)
c.96146A>T (p.Asp32049Val)
c.77762A>T (p.Asp25921Val)
c.99257A>T (p.Asp33086Val)
c.99254A>T (p.Asp33085Val)
c.98687A>T (p.Asp32896Val)
c.96029A>T (p.Asp32010Val)
c.95948A>T (p.Asp31983Val)
c.77711A>T (p.Asp25904Val)
c.67565A>T (p.Asp22522Val)
2g.178531799T>CCA349410849TTN,TTN-AS1c.97112A>G (p.Asp32371Gly)
c.78197A>G (p.Asp26066Gly)
c.77996A>G (p.Asp25999Gly)
c.77621A>G (p.Asp25874Gly)
c.104816A>G (p.Asp34939Gly)
c.99893A>G (p.Asp33298Gly)
n.446+8163T>C
n.220-3933T>C
c.103913A>G (p.Asp34638Gly)
c.77807A>G (p.Asp25936Gly)
c.77666A>G (p.Asp25889Gly)
c.103709A>G (p.Asp34570Gly)
c.99107A>G (p.Asp33036Gly)
c.99104A>G (p.Asp33035Gly)
c.96146A>G (p.Asp32049Gly)
c.77762A>G (p.Asp25921Gly)
c.99257A>G (p.Asp33086Gly)
c.99254A>G (p.Asp33085Gly)
c.98687A>G (p.Asp32896Gly)
c.96029A>G (p.Asp32010Gly)
c.95948A>G (p.Asp31983Gly)
c.77711A>G (p.Asp25904Gly)
c.67565A>G (p.Asp22522Gly)
2g.178531799T>GCA349410846TTN,TTN-AS1c.97112A>C (p.Asp32371Ala)
c.78197A>C (p.Asp26066Ala)
c.77996A>C (p.Asp25999Ala)
c.77621A>C (p.Asp25874Ala)
c.104816A>C (p.Asp34939Ala)
c.99893A>C (p.Asp33298Ala)
n.446+8163T>G
n.220-3933T>G
c.103913A>C (p.Asp34638Ala)
c.77807A>C (p.Asp25936Ala)
c.77666A>C (p.Asp25889Ala)
c.103709A>C (p.Asp34570Ala)
c.99107A>C (p.Asp33036Ala)
c.99104A>C (p.Asp33035Ala)
c.96146A>C (p.Asp32049Ala)
c.77762A>C (p.Asp25921Ala)
c.99257A>C (p.Asp33086Ala)
c.99254A>C (p.Asp33085Ala)
c.98687A>C (p.Asp32896Ala)
c.96029A>C (p.Asp32010Ala)
c.95948A>C (p.Asp31983Ala)
c.77711A>C (p.Asp25904Ala)
c.67565A>C (p.Asp22522Ala)
 gnomAD v4
2g.178531800C>ACA349410852TTN,TTN-AS1c.97111G>T (p.Asp32371Tyr)
c.78196G>T (p.Asp26066Tyr)
c.77995G>T (p.Asp25999Tyr)
c.77620G>T (p.Asp25874Tyr)
c.104815G>T (p.Asp34939Tyr)
c.99892G>T (p.Asp33298Tyr)
n.446+8164C>A
n.220-3932C>A
c.103912G>T (p.Asp34638Tyr)
c.77806G>T (p.Asp25936Tyr)
c.77665G>T (p.Asp25889Tyr)
c.103708G>T (p.Asp34570Tyr)
c.99106G>T (p.Asp33036Tyr)
c.99103G>T (p.Asp33035Tyr)
c.96145G>T (p.Asp32049Tyr)
c.77761G>T (p.Asp25921Tyr)
c.99256G>T (p.Asp33086Tyr)
c.99253G>T (p.Asp33085Tyr)
c.98686G>T (p.Asp32896Tyr)
c.96028G>T (p.Asp32010Tyr)
c.95947G>T (p.Asp31983Tyr)
c.77710G>T (p.Asp25904Tyr)
c.67564G>T (p.Asp22522Tyr)
2g.178531800C=CA1310517931TTN,TTN-AS1c.97111G= (p.Asp32371=)
c.78196G= (p.Asp26066=)
c.77995G= (p.Asp25999=)
c.77620G= (p.Asp25874=)
c.104815G= (p.Asp34939=)
c.99892G= (p.Asp33298=)
n.446+8164C=
n.220-3932C=
c.103912G= (p.Asp34638=)
c.77806G= (p.Asp25936=)
c.77665G= (p.Asp25889=)
c.103708G= (p.Asp34570=)
c.99106G= (p.Asp33036=)
c.99103G= (p.Asp33035=)
c.96145G= (p.Asp32049=)
c.77761G= (p.Asp25921=)
c.99256G= (p.Asp33086=)
c.99253G= (p.Asp33085=)
c.98686G= (p.Asp32896=)
c.96028G= (p.Asp32010=)
c.95947G= (p.Asp31983=)
c.77710G= (p.Asp25904=)
c.67564G= (p.Asp22522=)
2g.178531800C>GCA1985354TTN,TTN-AS1c.97111G>C (p.Asp32371His)
c.78196G>C (p.Asp26066His)
c.77995G>C (p.Asp25999His)
c.77620G>C (p.Asp25874His)
c.104815G>C (p.Asp34939His)
c.99892G>C (p.Asp33298His)
n.446+8164C>G
n.220-3932C>G
c.103912G>C (p.Asp34638His)
c.77806G>C (p.Asp25936His)
c.77665G>C (p.Asp25889His)
c.103708G>C (p.Asp34570His)
c.99106G>C (p.Asp33036His)
c.99103G>C (p.Asp33035His)
c.96145G>C (p.Asp32049His)
c.77761G>C (p.Asp25921His)
c.99256G>C (p.Asp33086His)
c.99253G>C (p.Asp33085His)
c.98686G>C (p.Asp32896His)
c.96028G>C (p.Asp32010His)
c.95947G>C (p.Asp31983His)
c.77710G>C (p.Asp25904His)
c.67564G>C (p.Asp22522His)
 ClinVar dbSNP ExAC gnomAD v2
2g.178531800C>TCA349410854TTN,TTN-AS1c.97111G>A (p.Asp32371Asn)
c.78196G>A (p.Asp26066Asn)
c.77995G>A (p.Asp25999Asn)
c.77620G>A (p.Asp25874Asn)
c.104815G>A (p.Asp34939Asn)
c.99892G>A (p.Asp33298Asn)
n.446+8164C>T
n.220-3932C>T
c.103912G>A (p.Asp34638Asn)
c.77806G>A (p.Asp25936Asn)
c.77665G>A (p.Asp25889Asn)
c.103708G>A (p.Asp34570Asn)
c.99106G>A (p.Asp33036Asn)
c.99103G>A (p.Asp33035Asn)
c.96145G>A (p.Asp32049Asn)
c.77761G>A (p.Asp25921Asn)
c.99256G>A (p.Asp33086Asn)
c.99253G>A (p.Asp33085Asn)
c.98686G>A (p.Asp32896Asn)
c.96028G>A (p.Asp32010Asn)
c.95947G>A (p.Asp31983Asn)
c.77710G>A (p.Asp25904Asn)
c.67564G>A (p.Asp22522Asn)
2g.178531801C>ACA430235396TTN,TTN-AS1c.97110G>T (p.Leu32370=)
c.78195G>T (p.Leu26065=)
c.77994G>T (p.Leu25998=)
c.77619G>T (p.Leu25873=)
c.104814G>T (p.Leu34938=)
c.99891G>T (p.Leu33297=)
n.446+8165C>A
n.220-3931C>A
c.103911G>T (p.Leu34637=)
c.77805G>T (p.Leu25935=)
c.77664G>T (p.Leu25888=)
c.103707G>T (p.Leu34569=)
c.99105G>T (p.Leu33035=)
c.99102G>T (p.Leu33034=)
c.96144G>T (p.Leu32048=)
c.77760G>T (p.Leu25920=)
c.99255G>T (p.Leu33085=)
c.99252G>T (p.Leu33084=)
c.98685G>T (p.Leu32895=)
c.96027G>T (p.Leu32009=)
c.95946G>T (p.Leu31982=)
c.77709G>T (p.Leu25903=)
c.67563G>T (p.Leu22521=)
2g.178531801C>GCA430235392TTN,TTN-AS1c.97110G>C (p.Leu32370=)
c.78195G>C (p.Leu26065=)
c.77994G>C (p.Leu25998=)
c.77619G>C (p.Leu25873=)
c.104814G>C (p.Leu34938=)
c.99891G>C (p.Leu33297=)
n.446+8165C>G
n.220-3931C>G
c.103911G>C (p.Leu34637=)
c.77805G>C (p.Leu25935=)
c.77664G>C (p.Leu25888=)
c.103707G>C (p.Leu34569=)
c.99105G>C (p.Leu33035=)
c.99102G>C (p.Leu33034=)
c.96144G>C (p.Leu32048=)
c.77760G>C (p.Leu25920=)
c.99255G>C (p.Leu33085=)
c.99252G>C (p.Leu33084=)
c.98685G>C (p.Leu32895=)
c.96027G>C (p.Leu32009=)
c.95946G>C (p.Leu31982=)
c.77709G>C (p.Leu25903=)
c.67563G>C (p.Leu22521=)
2g.178531801C>TCA430235394TTN,TTN-AS1c.97110G>A (p.Leu32370=)
c.78195G>A (p.Leu26065=)
c.77994G>A (p.Leu25998=)
c.77619G>A (p.Leu25873=)
c.104814G>A (p.Leu34938=)
c.99891G>A (p.Leu33297=)
n.446+8165C>T
n.220-3931C>T
c.103911G>A (p.Leu34637=)
c.77805G>A (p.Leu25935=)
c.77664G>A (p.Leu25888=)
c.103707G>A (p.Leu34569=)
c.99105G>A (p.Leu33035=)
c.99102G>A (p.Leu33034=)
c.96144G>A (p.Leu32048=)
c.77760G>A (p.Leu25920=)
c.99255G>A (p.Leu33085=)
c.99252G>A (p.Leu33084=)
c.98685G>A (p.Leu32895=)
c.96027G>A (p.Leu32009=)
c.95946G>A (p.Leu31982=)
c.77709G>A (p.Leu25903=)
c.67563G>A (p.Leu22521=)
 COSMIC COSMIC COSMIC COSMIC
2g.178531802A>CCA349410855TTN,TTN-AS1c.97109T>G (p.Leu32370Arg)
c.78194T>G (p.Leu26065Arg)
c.77993T>G (p.Leu25998Arg)
c.77618T>G (p.Leu25873Arg)
c.104813T>G (p.Leu34938Arg)
c.99890T>G (p.Leu33297Arg)
n.446+8166A>C
n.220-3930A>C
c.103910T>G (p.Leu34637Arg)
c.77804T>G (p.Leu25935Arg)
c.77663T>G (p.Leu25888Arg)
c.103706T>G (p.Leu34569Arg)
c.99104T>G (p.Leu33035Arg)
c.99101T>G (p.Leu33034Arg)
c.96143T>G (p.Leu32048Arg)
c.77759T>G (p.Leu25920Arg)
c.99254T>G (p.Leu33085Arg)
c.99251T>G (p.Leu33084Arg)
c.98684T>G (p.Leu32895Arg)
c.96026T>G (p.Leu32009Arg)
c.95945T>G (p.Leu31982Arg)
c.77708T>G (p.Leu25903Arg)
c.67562T>G (p.Leu22521Arg)
2g.178531802A>GCA349410857TTN,TTN-AS1c.97109T>C (p.Leu32370Pro)
c.78194T>C (p.Leu26065Pro)
c.77993T>C (p.Leu25998Pro)
c.77618T>C (p.Leu25873Pro)
c.104813T>C (p.Leu34938Pro)
c.99890T>C (p.Leu33297Pro)
n.446+8166A>G
n.220-3930A>G
c.103910T>C (p.Leu34637Pro)
c.77804T>C (p.Leu25935Pro)
c.77663T>C (p.Leu25888Pro)
c.103706T>C (p.Leu34569Pro)
c.99104T>C (p.Leu33035Pro)
c.99101T>C (p.Leu33034Pro)
c.96143T>C (p.Leu32048Pro)
c.77759T>C (p.Leu25920Pro)
c.99254T>C (p.Leu33085Pro)
c.99251T>C (p.Leu33084Pro)
c.98684T>C (p.Leu32895Pro)
c.96026T>C (p.Leu32009Pro)
c.95945T>C (p.Leu31982Pro)
c.77708T>C (p.Leu25903Pro)
c.67562T>C (p.Leu22521Pro)
2g.178531802A>TCA349410858TTN,TTN-AS1c.97109T>A (p.Leu32370Gln)
c.78194T>A (p.Leu26065Gln)
c.77993T>A (p.Leu25998Gln)
c.77618T>A (p.Leu25873Gln)
c.104813T>A (p.Leu34938Gln)
c.99890T>A (p.Leu33297Gln)
n.446+8166A>T
n.220-3930A>T
c.103910T>A (p.Leu34637Gln)
c.77804T>A (p.Leu25935Gln)
c.77663T>A (p.Leu25888Gln)
c.103706T>A (p.Leu34569Gln)
c.99104T>A (p.Leu33035Gln)
c.99101T>A (p.Leu33034Gln)
c.96143T>A (p.Leu32048Gln)
c.77759T>A (p.Leu25920Gln)
c.99254T>A (p.Leu33085Gln)
c.99251T>A (p.Leu33084Gln)
c.98684T>A (p.Leu32895Gln)
c.96026T>A (p.Leu32009Gln)
c.95945T>A (p.Leu31982Gln)
c.77708T>A (p.Leu25903Gln)
c.67562T>A (p.Leu22521Gln)
2g.178531803G>ACA1985355TTN,TTN-AS1c.97108C>T (p.Leu32370=)
c.78193C>T (p.Leu26065=)
c.77992C>T (p.Leu25998=)
c.77617C>T (p.Leu25873=)
c.104812C>T (p.Leu34938=)
c.99889C>T (p.Leu33297=)
n.446+8167G>A
n.220-3929G>A
c.103909C>T (p.Leu34637=)
c.77803C>T (p.Leu25935=)
c.77662C>T (p.Leu25888=)
c.103705C>T (p.Leu34569=)
c.99103C>T (p.Leu33035=)
c.99100C>T (p.Leu33034=)
c.96142C>T (p.Leu32048=)
c.77758C>T (p.Leu25920=)
c.99253C>T (p.Leu33085=)
c.99250C>T (p.Leu33084=)
c.98683C>T (p.Leu32895=)
c.96025C>T (p.Leu32009=)
c.95944C>T (p.Leu31982=)
c.77707C>T (p.Leu25903=)
c.67561C>T (p.Leu22521=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531803G>CCA1985356TTN,TTN-AS1c.97108C>G (p.Leu32370Val)
c.78193C>G (p.Leu26065Val)
c.77992C>G (p.Leu25998Val)
c.77617C>G (p.Leu25873Val)
c.104812C>G (p.Leu34938Val)
c.99889C>G (p.Leu33297Val)
n.446+8167G>C
n.220-3929G>C
c.103909C>G (p.Leu34637Val)
c.77803C>G (p.Leu25935Val)
c.77662C>G (p.Leu25888Val)
c.103705C>G (p.Leu34569Val)
c.99103C>G (p.Leu33035Val)
c.99100C>G (p.Leu33034Val)
c.96142C>G (p.Leu32048Val)
c.77758C>G (p.Leu25920Val)
c.99253C>G (p.Leu33085Val)
c.99250C>G (p.Leu33084Val)
c.98683C>G (p.Leu32895Val)
c.96025C>G (p.Leu32009Val)
c.95944C>G (p.Leu31982Val)
c.77707C>G (p.Leu25903Val)
c.67561C>G (p.Leu22521Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178531803G=CA1310517932TTN,TTN-AS1c.97108C= (p.Leu32370=)
c.78193C= (p.Leu26065=)
c.77992C= (p.Leu25998=)
c.77617C= (p.Leu25873=)
c.104812C= (p.Leu34938=)
c.99889C= (p.Leu33297=)
n.446+8167G=
n.220-3929G=
c.103909C= (p.Leu34637=)
c.77803C= (p.Leu25935=)
c.77662C= (p.Leu25888=)
c.103705C= (p.Leu34569=)
c.99103C= (p.Leu33035=)
c.99100C= (p.Leu33034=)
c.96142C= (p.Leu32048=)
c.77758C= (p.Leu25920=)
c.99253C= (p.Leu33085=)
c.99250C= (p.Leu33084=)
c.98683C= (p.Leu32895=)
c.96025C= (p.Leu32009=)
c.95944C= (p.Leu31982=)
c.77707C= (p.Leu25903=)
c.67561C= (p.Leu22521=)
2g.178531803G>TCA349410859TTN,TTN-AS1c.97108C>A (p.Leu32370Met)
c.78193C>A (p.Leu26065Met)
c.77992C>A (p.Leu25998Met)
c.77617C>A (p.Leu25873Met)
c.104812C>A (p.Leu34938Met)
c.99889C>A (p.Leu33297Met)
n.446+8167G>T
n.220-3929G>T
c.103909C>A (p.Leu34637Met)
c.77803C>A (p.Leu25935Met)
c.77662C>A (p.Leu25888Met)
c.103705C>A (p.Leu34569Met)
c.99103C>A (p.Leu33035Met)
c.99100C>A (p.Leu33034Met)
c.96142C>A (p.Leu32048Met)
c.77758C>A (p.Leu25920Met)
c.99253C>A (p.Leu33085Met)
c.99250C>A (p.Leu33084Met)
c.98683C>A (p.Leu32895Met)
c.96025C>A (p.Leu32009Met)
c.95944C>A (p.Leu31982Met)
c.77707C>A (p.Leu25903Met)
c.67561C>A (p.Leu22521Met)
 dbSNP gnomAD v3 gnomAD v4
2g.178531804T>ACA430235398TTN,TTN-AS1c.97107A>T (p.Thr32369=)
c.78192A>T (p.Thr26064=)
c.77991A>T (p.Thr25997=)
c.77616A>T (p.Thr25872=)
c.104811A>T (p.Thr34937=)
c.99888A>T (p.Thr33296=)
n.446+8168T>A
n.220-3928T>A
c.103908A>T (p.Thr34636=)
c.77802A>T (p.Thr25934=)
c.77661A>T (p.Thr25887=)
c.103704A>T (p.Thr34568=)
c.99102A>T (p.Thr33034=)
c.99099A>T (p.Thr33033=)
c.96141A>T (p.Thr32047=)
c.77757A>T (p.Thr25919=)
c.99252A>T (p.Thr33084=)
c.99249A>T (p.Thr33083=)
c.98682A>T (p.Thr32894=)
c.96024A>T (p.Thr32008=)
c.95943A>T (p.Thr31981=)
c.77706A>T (p.Thr25902=)
c.67560A>T (p.Thr22520=)
2g.178531804T>CCA430235399TTN,TTN-AS1c.97107A>G (p.Thr32369=)
c.78192A>G (p.Thr26064=)
c.77991A>G (p.Thr25997=)
c.77616A>G (p.Thr25872=)
c.104811A>G (p.Thr34937=)
c.99888A>G (p.Thr33296=)
n.446+8168T>C
n.220-3928T>C
c.103908A>G (p.Thr34636=)
c.77802A>G (p.Thr25934=)
c.77661A>G (p.Thr25887=)
c.103704A>G (p.Thr34568=)
c.99102A>G (p.Thr33034=)
c.99099A>G (p.Thr33033=)
c.96141A>G (p.Thr32047=)
c.77757A>G (p.Thr25919=)
c.99252A>G (p.Thr33084=)
c.99249A>G (p.Thr33083=)
c.98682A>G (p.Thr32894=)
c.96024A>G (p.Thr32008=)
c.95943A>G (p.Thr31981=)
c.77706A>G (p.Thr25902=)
c.67560A>G (p.Thr22520=)
 gnomAD v4
2g.178531804T>GCA430235401TTN,TTN-AS1c.97107A>C (p.Thr32369=)
c.78192A>C (p.Thr26064=)
c.77991A>C (p.Thr25997=)
c.77616A>C (p.Thr25872=)
c.104811A>C (p.Thr34937=)
c.99888A>C (p.Thr33296=)
n.446+8168T>G
n.220-3928T>G
c.103908A>C (p.Thr34636=)
c.77802A>C (p.Thr25934=)
c.77661A>C (p.Thr25887=)
c.103704A>C (p.Thr34568=)
c.99102A>C (p.Thr33034=)
c.99099A>C (p.Thr33033=)
c.96141A>C (p.Thr32047=)
c.77757A>C (p.Thr25919=)
c.99252A>C (p.Thr33084=)
c.99249A>C (p.Thr33083=)
c.98682A>C (p.Thr32894=)
c.96024A>C (p.Thr32008=)
c.95943A>C (p.Thr31981=)
c.77706A>C (p.Thr25902=)
c.67560A>C (p.Thr22520=)
 ClinVar gnomAD v4
2g.178531805G>ACA349410861TTN,TTN-AS1c.97106C>T (p.Thr32369Ile)
c.78191C>T (p.Thr26064Ile)
c.77990C>T (p.Thr25997Ile)
c.77615C>T (p.Thr25872Ile)
c.104810C>T (p.Thr34937Ile)
c.99887C>T (p.Thr33296Ile)
n.446+8169G>A
n.220-3927G>A
c.103907C>T (p.Thr34636Ile)
c.77801C>T (p.Thr25934Ile)
c.77660C>T (p.Thr25887Ile)
c.103703C>T (p.Thr34568Ile)
c.99101C>T (p.Thr33034Ile)
c.99098C>T (p.Thr33033Ile)
c.96140C>T (p.Thr32047Ile)
c.77756C>T (p.Thr25919Ile)
c.99251C>T (p.Thr33084Ile)
c.99248C>T (p.Thr33083Ile)
c.98681C>T (p.Thr32894Ile)
c.96023C>T (p.Thr32008Ile)
c.95942C>T (p.Thr31981Ile)
c.77705C>T (p.Thr25902Ile)
c.67559C>T (p.Thr22520Ile)
2g.178531805G>CCA349410863TTN,TTN-AS1c.97106C>G (p.Thr32369Arg)
c.78191C>G (p.Thr26064Arg)
c.77990C>G (p.Thr25997Arg)
c.77615C>G (p.Thr25872Arg)
c.104810C>G (p.Thr34937Arg)
c.99887C>G (p.Thr33296Arg)
n.446+8169G>C
n.220-3927G>C
c.103907C>G (p.Thr34636Arg)
c.77801C>G (p.Thr25934Arg)
c.77660C>G (p.Thr25887Arg)
c.103703C>G (p.Thr34568Arg)
c.99101C>G (p.Thr33034Arg)
c.99098C>G (p.Thr33033Arg)
c.96140C>G (p.Thr32047Arg)
c.77756C>G (p.Thr25919Arg)
c.99251C>G (p.Thr33084Arg)
c.99248C>G (p.Thr33083Arg)
c.98681C>G (p.Thr32894Arg)
c.96023C>G (p.Thr32008Arg)
c.95942C>G (p.Thr31981Arg)
c.77705C>G (p.Thr25902Arg)
c.67559C>G (p.Thr22520Arg)
2g.178531805G>TCA349410864TTN,TTN-AS1c.97106C>A (p.Thr32369Lys)
c.78191C>A (p.Thr26064Lys)
c.77990C>A (p.Thr25997Lys)
c.77615C>A (p.Thr25872Lys)
c.104810C>A (p.Thr34937Lys)
c.99887C>A (p.Thr33296Lys)
n.446+8169G>T
n.220-3927G>T
c.103907C>A (p.Thr34636Lys)
c.77801C>A (p.Thr25934Lys)
c.77660C>A (p.Thr25887Lys)
c.103703C>A (p.Thr34568Lys)
c.99101C>A (p.Thr33034Lys)
c.99098C>A (p.Thr33033Lys)
c.96140C>A (p.Thr32047Lys)
c.77756C>A (p.Thr25919Lys)
c.99251C>A (p.Thr33084Lys)
c.99248C>A (p.Thr33083Lys)
c.98681C>A (p.Thr32894Lys)
c.96023C>A (p.Thr32008Lys)
c.95942C>A (p.Thr31981Lys)
c.77705C>A (p.Thr25902Lys)
c.67559C>A (p.Thr22520Lys)
2g.178531806T>ACA349410867TTN,TTN-AS1c.97105A>T (p.Thr32369Ser)
c.78190A>T (p.Thr26064Ser)
c.77989A>T (p.Thr25997Ser)
c.77614A>T (p.Thr25872Ser)
c.104809A>T (p.Thr34937Ser)
c.99886A>T (p.Thr33296Ser)
n.446+8170T>A
n.220-3926T>A
c.103906A>T (p.Thr34636Ser)
c.77800A>T (p.Thr25934Ser)
c.77659A>T (p.Thr25887Ser)
c.103702A>T (p.Thr34568Ser)
c.99100A>T (p.Thr33034Ser)
c.99097A>T (p.Thr33033Ser)
c.96139A>T (p.Thr32047Ser)
c.77755A>T (p.Thr25919Ser)
c.99250A>T (p.Thr33084Ser)
c.99247A>T (p.Thr33083Ser)
c.98680A>T (p.Thr32894Ser)
c.96022A>T (p.Thr32008Ser)
c.95941A>T (p.Thr31981Ser)
c.77704A>T (p.Thr25902Ser)
c.67558A>T (p.Thr22520Ser)
2g.178531806T>CCA349410869TTN,TTN-AS1c.97105A>G (p.Thr32369Ala)
c.78190A>G (p.Thr26064Ala)
c.77989A>G (p.Thr25997Ala)
c.77614A>G (p.Thr25872Ala)
c.104809A>G (p.Thr34937Ala)
c.99886A>G (p.Thr33296Ala)
n.446+8170T>C
n.220-3926T>C
c.103906A>G (p.Thr34636Ala)
c.77800A>G (p.Thr25934Ala)
c.77659A>G (p.Thr25887Ala)
c.103702A>G (p.Thr34568Ala)
c.99100A>G (p.Thr33034Ala)
c.99097A>G (p.Thr33033Ala)
c.96139A>G (p.Thr32047Ala)
c.77755A>G (p.Thr25919Ala)
c.99250A>G (p.Thr33084Ala)
c.99247A>G (p.Thr33083Ala)
c.98680A>G (p.Thr32894Ala)
c.96022A>G (p.Thr32008Ala)
c.95941A>G (p.Thr31981Ala)
c.77704A>G (p.Thr25902Ala)
c.67558A>G (p.Thr22520Ala)
2g.178531806T>GCA349410865TTN,TTN-AS1c.97105A>C (p.Thr32369Pro)
c.78190A>C (p.Thr26064Pro)
c.77989A>C (p.Thr25997Pro)
c.77614A>C (p.Thr25872Pro)
c.104809A>C (p.Thr34937Pro)
c.99886A>C (p.Thr33296Pro)
n.446+8170T>G
n.220-3926T>G
c.103906A>C (p.Thr34636Pro)
c.77800A>C (p.Thr25934Pro)
c.77659A>C (p.Thr25887Pro)
c.103702A>C (p.Thr34568Pro)
c.99100A>C (p.Thr33034Pro)
c.99097A>C (p.Thr33033Pro)
c.96139A>C (p.Thr32047Pro)
c.77755A>C (p.Thr25919Pro)
c.99250A>C (p.Thr33084Pro)
c.99247A>C (p.Thr33083Pro)
c.98680A>C (p.Thr32894Pro)
c.96022A>C (p.Thr32008Pro)
c.95941A>C (p.Thr31981Pro)
c.77704A>C (p.Thr25902Pro)
c.67558A>C (p.Thr22520Pro)
2g.178531807G>ACA430235406TTN,TTN-AS1c.97104C>T (p.Phe32368=)
c.78189C>T (p.Phe26063=)
c.77988C>T (p.Phe25996=)
c.77613C>T (p.Phe25871=)
c.104808C>T (p.Phe34936=)
c.99885C>T (p.Phe33295=)
n.446+8171G>A
n.220-3925G>A
c.103905C>T (p.Phe34635=)
c.77799C>T (p.Phe25933=)
c.77658C>T (p.Phe25886=)
c.103701C>T (p.Phe34567=)
c.99099C>T (p.Phe33033=)
c.99096C>T (p.Phe33032=)
c.96138C>T (p.Phe32046=)
c.77754C>T (p.Phe25918=)
c.99249C>T (p.Phe33083=)
c.99246C>T (p.Phe33082=)
c.98679C>T (p.Phe32893=)
c.96021C>T (p.Phe32007=)
c.95940C>T (p.Phe31980=)
c.77703C>T (p.Phe25901=)
c.67557C>T (p.Phe22519=)
2g.178531807G>CCA349410871TTN,TTN-AS1c.97104C>G (p.Phe32368Leu)
c.78189C>G (p.Phe26063Leu)
c.77988C>G (p.Phe25996Leu)
c.77613C>G (p.Phe25871Leu)
c.104808C>G (p.Phe34936Leu)
c.99885C>G (p.Phe33295Leu)
n.446+8171G>C
n.220-3925G>C
c.103905C>G (p.Phe34635Leu)
c.77799C>G (p.Phe25933Leu)
c.77658C>G (p.Phe25886Leu)
c.103701C>G (p.Phe34567Leu)
c.99099C>G (p.Phe33033Leu)
c.99096C>G (p.Phe33032Leu)
c.96138C>G (p.Phe32046Leu)
c.77754C>G (p.Phe25918Leu)
c.99249C>G (p.Phe33083Leu)
c.99246C>G (p.Phe33082Leu)
c.98679C>G (p.Phe32893Leu)
c.96021C>G (p.Phe32007Leu)
c.95940C>G (p.Phe31980Leu)
c.77703C>G (p.Phe25901Leu)
c.67557C>G (p.Phe22519Leu)
2g.178531807G>TCA349410872TTN,TTN-AS1c.97104C>A (p.Phe32368Leu)
c.78189C>A (p.Phe26063Leu)
c.77988C>A (p.Phe25996Leu)
c.77613C>A (p.Phe25871Leu)
c.104808C>A (p.Phe34936Leu)
c.99885C>A (p.Phe33295Leu)
n.446+8171G>T
n.220-3925G>T
c.103905C>A (p.Phe34635Leu)
c.77799C>A (p.Phe25933Leu)
c.77658C>A (p.Phe25886Leu)
c.103701C>A (p.Phe34567Leu)
c.99099C>A (p.Phe33033Leu)
c.99096C>A (p.Phe33032Leu)
c.96138C>A (p.Phe32046Leu)
c.77754C>A (p.Phe25918Leu)
c.99249C>A (p.Phe33083Leu)
c.99246C>A (p.Phe33082Leu)
c.98679C>A (p.Phe32893Leu)
c.96021C>A (p.Phe32007Leu)
c.95940C>A (p.Phe31980Leu)
c.77703C>A (p.Phe25901Leu)
c.67557C>A (p.Phe22519Leu)
2g.178531808A>CCA349410874TTN,TTN-AS1c.97103T>G (p.Phe32368Cys)
c.78188T>G (p.Phe26063Cys)
c.77987T>G (p.Phe25996Cys)
c.77612T>G (p.Phe25871Cys)
c.104807T>G (p.Phe34936Cys)
c.99884T>G (p.Phe33295Cys)
n.446+8172A>C
n.220-3924A>C
c.103904T>G (p.Phe34635Cys)
c.77798T>G (p.Phe25933Cys)
c.77657T>G (p.Phe25886Cys)
c.103700T>G (p.Phe34567Cys)
c.99098T>G (p.Phe33033Cys)
c.99095T>G (p.Phe33032Cys)
c.96137T>G (p.Phe32046Cys)
c.77753T>G (p.Phe25918Cys)
c.99248T>G (p.Phe33083Cys)
c.99245T>G (p.Phe33082Cys)
c.98678T>G (p.Phe32893Cys)
c.96020T>G (p.Phe32007Cys)
c.95939T>G (p.Phe31980Cys)
c.77702T>G (p.Phe25901Cys)
c.67556T>G (p.Phe22519Cys)
2g.178531808A>GCA349410876TTN,TTN-AS1c.97103T>C (p.Phe32368Ser)
c.78188T>C (p.Phe26063Ser)
c.77987T>C (p.Phe25996Ser)
c.77612T>C (p.Phe25871Ser)
c.104807T>C (p.Phe34936Ser)
c.99884T>C (p.Phe33295Ser)
n.446+8172A>G
n.220-3924A>G
c.103904T>C (p.Phe34635Ser)
c.77798T>C (p.Phe25933Ser)
c.77657T>C (p.Phe25886Ser)
c.103700T>C (p.Phe34567Ser)
c.99098T>C (p.Phe33033Ser)
c.99095T>C (p.Phe33032Ser)
c.96137T>C (p.Phe32046Ser)
c.77753T>C (p.Phe25918Ser)
c.99248T>C (p.Phe33083Ser)
c.99245T>C (p.Phe33082Ser)
c.98678T>C (p.Phe32893Ser)
c.96020T>C (p.Phe32007Ser)
c.95939T>C (p.Phe31980Ser)
c.77702T>C (p.Phe25901Ser)
c.67556T>C (p.Phe22519Ser)
2g.178531808A>TCA349410877TTN,TTN-AS1c.97103T>A (p.Phe32368Tyr)
c.78188T>A (p.Phe26063Tyr)
c.77987T>A (p.Phe25996Tyr)
c.77612T>A (p.Phe25871Tyr)
c.104807T>A (p.Phe34936Tyr)
c.99884T>A (p.Phe33295Tyr)
n.446+8172A>T
n.220-3924A>T
c.103904T>A (p.Phe34635Tyr)
c.77798T>A (p.Phe25933Tyr)
c.77657T>A (p.Phe25886Tyr)
c.103700T>A (p.Phe34567Tyr)
c.99098T>A (p.Phe33033Tyr)
c.99095T>A (p.Phe33032Tyr)
c.96137T>A (p.Phe32046Tyr)
c.77753T>A (p.Phe25918Tyr)
c.99248T>A (p.Phe33083Tyr)
c.99245T>A (p.Phe33082Tyr)
c.98678T>A (p.Phe32893Tyr)
c.96020T>A (p.Phe32007Tyr)
c.95939T>A (p.Phe31980Tyr)
c.77702T>A (p.Phe25901Tyr)
c.67556T>A (p.Phe22519Tyr)
2g.178531809A>CCA349410881TTN,TTN-AS1c.97102T>G (p.Phe32368Val)
c.78187T>G (p.Phe26063Val)
c.77986T>G (p.Phe25996Val)
c.77611T>G (p.Phe25871Val)
c.104806T>G (p.Phe34936Val)
c.99883T>G (p.Phe33295Val)
n.446+8173A>C
n.220-3923A>C
c.103903T>G (p.Phe34635Val)
c.77797T>G (p.Phe25933Val)
c.77656T>G (p.Phe25886Val)
c.103699T>G (p.Phe34567Val)
c.99097T>G (p.Phe33033Val)
c.99094T>G (p.Phe33032Val)
c.96136T>G (p.Phe32046Val)
c.77752T>G (p.Phe25918Val)
c.99247T>G (p.Phe33083Val)
c.99244T>G (p.Phe33082Val)
c.98677T>G (p.Phe32893Val)
c.96019T>G (p.Phe32007Val)
c.95938T>G (p.Phe31980Val)
c.77701T>G (p.Phe25901Val)
c.67555T>G (p.Phe22519Val)
2g.178531809A>GCA349410878TTN,TTN-AS1c.97102T>C (p.Phe32368Leu)
c.78187T>C (p.Phe26063Leu)
c.77986T>C (p.Phe25996Leu)
c.77611T>C (p.Phe25871Leu)
c.104806T>C (p.Phe34936Leu)
c.99883T>C (p.Phe33295Leu)
n.446+8173A>G
n.220-3923A>G
c.103903T>C (p.Phe34635Leu)
c.77797T>C (p.Phe25933Leu)
c.77656T>C (p.Phe25886Leu)
c.103699T>C (p.Phe34567Leu)
c.99097T>C (p.Phe33033Leu)
c.99094T>C (p.Phe33032Leu)
c.96136T>C (p.Phe32046Leu)
c.77752T>C (p.Phe25918Leu)
c.99247T>C (p.Phe33083Leu)
c.99244T>C (p.Phe33082Leu)
c.98677T>C (p.Phe32893Leu)
c.96019T>C (p.Phe32007Leu)
c.95938T>C (p.Phe31980Leu)
c.77701T>C (p.Phe25901Leu)
c.67555T>C (p.Phe22519Leu)
 gnomAD v4
2g.178531809A>TCA349410879TTN,TTN-AS1c.97102T>A (p.Phe32368Ile)
c.78187T>A (p.Phe26063Ile)
c.77986T>A (p.Phe25996Ile)
c.77611T>A (p.Phe25871Ile)
c.104806T>A (p.Phe34936Ile)
c.99883T>A (p.Phe33295Ile)
n.446+8173A>T
n.220-3923A>T
c.103903T>A (p.Phe34635Ile)
c.77797T>A (p.Phe25933Ile)
c.77656T>A (p.Phe25886Ile)
c.103699T>A (p.Phe34567Ile)
c.99097T>A (p.Phe33033Ile)
c.99094T>A (p.Phe33032Ile)
c.96136T>A (p.Phe32046Ile)
c.77752T>A (p.Phe25918Ile)
c.99247T>A (p.Phe33083Ile)
c.99244T>A (p.Phe33082Ile)
c.98677T>A (p.Phe32893Ile)
c.96019T>A (p.Phe32007Ile)
c.95938T>A (p.Phe31980Ile)
c.77701T>A (p.Phe25901Ile)
c.67555T>A (p.Phe22519Ile)
2g.178531810A>CCA430235411TTN,TTN-AS1c.97101T>G (p.Pro32367=)
c.78186T>G (p.Pro26062=)
c.77985T>G (p.Pro25995=)
c.77610T>G (p.Pro25870=)
c.104805T>G (p.Pro34935=)
c.99882T>G (p.Pro33294=)
n.446+8174A>C
n.220-3922A>C
c.103902T>G (p.Pro34634=)
c.77796T>G (p.Pro25932=)
c.77655T>G (p.Pro25885=)
c.103698T>G (p.Pro34566=)
c.99096T>G (p.Pro33032=)
c.99093T>G (p.Pro33031=)
c.96135T>G (p.Pro32045=)
c.77751T>G (p.Pro25917=)
c.99246T>G (p.Pro33082=)
c.99243T>G (p.Pro33081=)
c.98676T>G (p.Pro32892=)
c.96018T>G (p.Pro32006=)
c.95937T>G (p.Pro31979=)
c.77700T>G (p.Pro25900=)
c.67554T>G (p.Pro22518=)
2g.178531810A>GCA430235413TTN,TTN-AS1c.97101T>C (p.Pro32367=)
c.78186T>C (p.Pro26062=)
c.77985T>C (p.Pro25995=)
c.77610T>C (p.Pro25870=)
c.104805T>C (p.Pro34935=)
c.99882T>C (p.Pro33294=)
n.446+8174A>G
n.220-3922A>G
c.103902T>C (p.Pro34634=)
c.77796T>C (p.Pro25932=)
c.77655T>C (p.Pro25885=)
c.103698T>C (p.Pro34566=)
c.99096T>C (p.Pro33032=)
c.99093T>C (p.Pro33031=)
c.96135T>C (p.Pro32045=)
c.77751T>C (p.Pro25917=)
c.99246T>C (p.Pro33082=)
c.99243T>C (p.Pro33081=)
c.98676T>C (p.Pro32892=)
c.96018T>C (p.Pro32006=)
c.95937T>C (p.Pro31979=)
c.77700T>C (p.Pro25900=)
c.67554T>C (p.Pro22518=)
 COSMIC COSMIC COSMIC COSMIC
2g.178531810A>TCA430235416TTN,TTN-AS1c.97101T>A (p.Pro32367=)
c.78186T>A (p.Pro26062=)
c.77985T>A (p.Pro25995=)
c.77610T>A (p.Pro25870=)
c.104805T>A (p.Pro34935=)
c.99882T>A (p.Pro33294=)
n.446+8174A>T
n.220-3922A>T
c.103902T>A (p.Pro34634=)
c.77796T>A (p.Pro25932=)
c.77655T>A (p.Pro25885=)
c.103698T>A (p.Pro34566=)
c.99096T>A (p.Pro33032=)
c.99093T>A (p.Pro33031=)
c.96135T>A (p.Pro32045=)
c.77751T>A (p.Pro25917=)
c.99246T>A (p.Pro33082=)
c.99243T>A (p.Pro33081=)
c.98676T>A (p.Pro32892=)
c.96018T>A (p.Pro32006=)
c.95937T>A (p.Pro31979=)
c.77700T>A (p.Pro25900=)
c.67554T>A (p.Pro22518=)
2g.178531811G>ACA349410882TTN,TTN-AS1c.97100C>T (p.Pro32367Leu)
c.78185C>T (p.Pro26062Leu)
c.77984C>T (p.Pro25995Leu)
c.77609C>T (p.Pro25870Leu)
c.104804C>T (p.Pro34935Leu)
c.99881C>T (p.Pro33294Leu)
n.446+8175G>A
n.220-3921G>A
c.103901C>T (p.Pro34634Leu)
c.77795C>T (p.Pro25932Leu)
c.77654C>T (p.Pro25885Leu)
c.103697C>T (p.Pro34566Leu)
c.99095C>T (p.Pro33032Leu)
c.99092C>T (p.Pro33031Leu)
c.96134C>T (p.Pro32045Leu)
c.77750C>T (p.Pro25917Leu)
c.99245C>T (p.Pro33082Leu)
c.99242C>T (p.Pro33081Leu)
c.98675C>T (p.Pro32892Leu)
c.96017C>T (p.Pro32006Leu)
c.95936C>T (p.Pro31979Leu)
c.77699C>T (p.Pro25900Leu)
c.67553C>T (p.Pro22518Leu)
 ClinVar
2g.178531811G>CCA349410883TTN,TTN-AS1c.97100C>G (p.Pro32367Arg)
c.78185C>G (p.Pro26062Arg)
c.77984C>G (p.Pro25995Arg)
c.77609C>G (p.Pro25870Arg)
c.104804C>G (p.Pro34935Arg)
c.99881C>G (p.Pro33294Arg)
n.446+8175G>C
n.220-3921G>C
c.103901C>G (p.Pro34634Arg)
c.77795C>G (p.Pro25932Arg)
c.77654C>G (p.Pro25885Arg)
c.103697C>G (p.Pro34566Arg)
c.99095C>G (p.Pro33032Arg)
c.99092C>G (p.Pro33031Arg)
c.96134C>G (p.Pro32045Arg)
c.77750C>G (p.Pro25917Arg)
c.99245C>G (p.Pro33082Arg)
c.99242C>G (p.Pro33081Arg)
c.98675C>G (p.Pro32892Arg)
c.96017C>G (p.Pro32006Arg)
c.95936C>G (p.Pro31979Arg)
c.77699C>G (p.Pro25900Arg)
c.67553C>G (p.Pro22518Arg)
2g.178531811G>TCA349410885TTN,TTN-AS1c.97100C>A (p.Pro32367His)
c.78185C>A (p.Pro26062His)
c.77984C>A (p.Pro25995His)
c.77609C>A (p.Pro25870His)
c.104804C>A (p.Pro34935His)
c.99881C>A (p.Pro33294His)
n.446+8175G>T
n.220-3921G>T
c.103901C>A (p.Pro34634His)
c.77795C>A (p.Pro25932His)
c.77654C>A (p.Pro25885His)
c.103697C>A (p.Pro34566His)
c.99095C>A (p.Pro33032His)
c.99092C>A (p.Pro33031His)
c.96134C>A (p.Pro32045His)
c.77750C>A (p.Pro25917His)
c.99245C>A (p.Pro33082His)
c.99242C>A (p.Pro33081His)
c.98675C>A (p.Pro32892His)
c.96017C>A (p.Pro32006His)
c.95936C>A (p.Pro31979His)
c.77699C>A (p.Pro25900His)
c.67553C>A (p.Pro22518His)
2g.178531812G>ACA349410886TTN,TTN-AS1c.97099C>T (p.Pro32367Ser)
c.78184C>T (p.Pro26062Ser)
c.77983C>T (p.Pro25995Ser)
c.77608C>T (p.Pro25870Ser)
c.104803C>T (p.Pro34935Ser)
c.99880C>T (p.Pro33294Ser)
n.446+8176G>A
n.220-3920G>A
c.103900C>T (p.Pro34634Ser)
c.77794C>T (p.Pro25932Ser)
c.77653C>T (p.Pro25885Ser)
c.103696C>T (p.Pro34566Ser)
c.99094C>T (p.Pro33032Ser)
c.99091C>T (p.Pro33031Ser)
c.96133C>T (p.Pro32045Ser)
c.77749C>T (p.Pro25917Ser)
c.99244C>T (p.Pro33082Ser)
c.99241C>T (p.Pro33081Ser)
c.98674C>T (p.Pro32892Ser)
c.96016C>T (p.Pro32006Ser)
c.95935C>T (p.Pro31979Ser)
c.77698C>T (p.Pro25900Ser)
c.67552C>T (p.Pro22518Ser)
 gnomAD v4
2g.178531812G>CCA349410888TTN,TTN-AS1c.97099C>G (p.Pro32367Ala)
c.78184C>G (p.Pro26062Ala)
c.77983C>G (p.Pro25995Ala)
c.77608C>G (p.Pro25870Ala)
c.104803C>G (p.Pro34935Ala)
c.99880C>G (p.Pro33294Ala)
n.446+8176G>C
n.220-3920G>C
c.103900C>G (p.Pro34634Ala)
c.77794C>G (p.Pro25932Ala)
c.77653C>G (p.Pro25885Ala)
c.103696C>G (p.Pro34566Ala)
c.99094C>G (p.Pro33032Ala)
c.99091C>G (p.Pro33031Ala)
c.96133C>G (p.Pro32045Ala)
c.77749C>G (p.Pro25917Ala)
c.99244C>G (p.Pro33082Ala)
c.99241C>G (p.Pro33081Ala)
c.98674C>G (p.Pro32892Ala)
c.96016C>G (p.Pro32006Ala)
c.95935C>G (p.Pro31979Ala)
c.77698C>G (p.Pro25900Ala)
c.67552C>G (p.Pro22518Ala)
2g.178531812G>TCA349410889TTN,TTN-AS1c.97099C>A (p.Pro32367Thr)
c.78184C>A (p.Pro26062Thr)
c.77983C>A (p.Pro25995Thr)
c.77608C>A (p.Pro25870Thr)
c.104803C>A (p.Pro34935Thr)
c.99880C>A (p.Pro33294Thr)
n.446+8176G>T
n.220-3920G>T
c.103900C>A (p.Pro34634Thr)
c.77794C>A (p.Pro25932Thr)
c.77653C>A (p.Pro25885Thr)
c.103696C>A (p.Pro34566Thr)
c.99094C>A (p.Pro33032Thr)
c.99091C>A (p.Pro33031Thr)
c.96133C>A (p.Pro32045Thr)
c.77749C>A (p.Pro25917Thr)
c.99244C>A (p.Pro33082Thr)
c.99241C>A (p.Pro33081Thr)
c.98674C>A (p.Pro32892Thr)
c.96016C>A (p.Pro32006Thr)
c.95935C>A (p.Pro31979Thr)
c.77698C>A (p.Pro25900Thr)
c.67552C>A (p.Pro22518Thr)
2g.178531813C>ACA349410890TTN,TTN-AS1c.97098G>T (p.Gln32366His)
c.78183G>T (p.Gln26061His)
c.77982G>T (p.Gln25994His)
c.77607G>T (p.Gln25869His)
c.104802G>T (p.Gln34934His)
c.99879G>T (p.Gln33293His)
n.446+8177C>A
n.220-3919C>A
c.103899G>T (p.Gln34633His)
c.77793G>T (p.Gln25931His)
c.77652G>T (p.Gln25884His)
c.103695G>T (p.Gln34565His)
c.99093G>T (p.Gln33031His)
c.99090G>T (p.Gln33030His)
c.96132G>T (p.Gln32044His)
c.77748G>T (p.Gln25916His)
c.99243G>T (p.Gln33081His)
c.99240G>T (p.Gln33080His)
c.98673G>T (p.Gln32891His)
c.96015G>T (p.Gln32005His)
c.95934G>T (p.Gln31978His)
c.77697G>T (p.Gln25899His)
c.67551G>T (p.Gln22517His)
2g.178531813C>GCA349410891TTN,TTN-AS1c.97098G>C (p.Gln32366His)
c.78183G>C (p.Gln26061His)
c.77982G>C (p.Gln25994His)
c.77607G>C (p.Gln25869His)
c.104802G>C (p.Gln34934His)
c.99879G>C (p.Gln33293His)
n.446+8177C>G
n.220-3919C>G
c.103899G>C (p.Gln34633His)
c.77793G>C (p.Gln25931His)
c.77652G>C (p.Gln25884His)
c.103695G>C (p.Gln34565His)
c.99093G>C (p.Gln33031His)
c.99090G>C (p.Gln33030His)
c.96132G>C (p.Gln32044His)
c.77748G>C (p.Gln25916His)
c.99243G>C (p.Gln33081His)
c.99240G>C (p.Gln33080His)
c.98673G>C (p.Gln32891His)
c.96015G>C (p.Gln32005His)
c.95934G>C (p.Gln31978His)
c.77697G>C (p.Gln25899His)
c.67551G>C (p.Gln22517His)
2g.178531813C>TCA430235422TTN,TTN-AS1c.97098G>A (p.Gln32366=)
c.78183G>A (p.Gln26061=)
c.77982G>A (p.Gln25994=)
c.77607G>A (p.Gln25869=)
c.104802G>A (p.Gln34934=)
c.99879G>A (p.Gln33293=)
n.446+8177C>T
n.220-3919C>T
c.103899G>A (p.Gln34633=)
c.77793G>A (p.Gln25931=)
c.77652G>A (p.Gln25884=)
c.103695G>A (p.Gln34565=)
c.99093G>A (p.Gln33031=)
c.99090G>A (p.Gln33030=)
c.96132G>A (p.Gln32044=)
c.77748G>A (p.Gln25916=)
c.99243G>A (p.Gln33081=)
c.99240G>A (p.Gln33080=)
c.98673G>A (p.Gln32891=)
c.96015G>A (p.Gln32005=)
c.95934G>A (p.Gln31978=)
c.77697G>A (p.Gln25899=)
c.67551G>A (p.Gln22517=)
2g.178531814T>ACA349410892TTN,TTN-AS1c.97097A>T (p.Gln32366Leu)
c.78182A>T (p.Gln26061Leu)
c.77981A>T (p.Gln25994Leu)
c.77606A>T (p.Gln25869Leu)
c.104801A>T (p.Gln34934Leu)
c.99878A>T (p.Gln33293Leu)
n.446+8178T>A
n.220-3918T>A
c.103898A>T (p.Gln34633Leu)
c.77792A>T (p.Gln25931Leu)
c.77651A>T (p.Gln25884Leu)
c.103694A>T (p.Gln34565Leu)
c.99092A>T (p.Gln33031Leu)
c.99089A>T (p.Gln33030Leu)
c.96131A>T (p.Gln32044Leu)
c.77747A>T (p.Gln25916Leu)
c.99242A>T (p.Gln33081Leu)
c.99239A>T (p.Gln33080Leu)
c.98672A>T (p.Gln32891Leu)
c.96014A>T (p.Gln32005Leu)
c.95933A>T (p.Gln31978Leu)
c.77696A>T (p.Gln25899Leu)
c.67550A>T (p.Gln22517Leu)
2g.178531814T>CCA349410894TTN,TTN-AS1c.97097A>G (p.Gln32366Arg)
c.78182A>G (p.Gln26061Arg)
c.77981A>G (p.Gln25994Arg)
c.77606A>G (p.Gln25869Arg)
c.104801A>G (p.Gln34934Arg)
c.99878A>G (p.Gln33293Arg)
n.446+8178T>C
n.220-3918T>C
c.103898A>G (p.Gln34633Arg)
c.77792A>G (p.Gln25931Arg)
c.77651A>G (p.Gln25884Arg)
c.103694A>G (p.Gln34565Arg)
c.99092A>G (p.Gln33031Arg)
c.99089A>G (p.Gln33030Arg)
c.96131A>G (p.Gln32044Arg)
c.77747A>G (p.Gln25916Arg)
c.99242A>G (p.Gln33081Arg)
c.99239A>G (p.Gln33080Arg)
c.98672A>G (p.Gln32891Arg)
c.96014A>G (p.Gln32005Arg)
c.95933A>G (p.Gln31978Arg)
c.77696A>G (p.Gln25899Arg)
c.67550A>G (p.Gln22517Arg)
2g.178531814T>GCA349410893TTN,TTN-AS1c.97097A>C (p.Gln32366Pro)
c.78182A>C (p.Gln26061Pro)
c.77981A>C (p.Gln25994Pro)
c.77606A>C (p.Gln25869Pro)
c.104801A>C (p.Gln34934Pro)
c.99878A>C (p.Gln33293Pro)
n.446+8178T>G
n.220-3918T>G
c.103898A>C (p.Gln34633Pro)
c.77792A>C (p.Gln25931Pro)
c.77651A>C (p.Gln25884Pro)
c.103694A>C (p.Gln34565Pro)
c.99092A>C (p.Gln33031Pro)
c.99089A>C (p.Gln33030Pro)
c.96131A>C (p.Gln32044Pro)
c.77747A>C (p.Gln25916Pro)
c.99242A>C (p.Gln33081Pro)
c.99239A>C (p.Gln33080Pro)
c.98672A>C (p.Gln32891Pro)
c.96014A>C (p.Gln32005Pro)
c.95933A>C (p.Gln31978Pro)
c.77696A>C (p.Gln25899Pro)
c.67550A>C (p.Gln22517Pro)
2g.178531815G>ACA349410895TTN,TTN-AS1c.97096C>T (p.Gln32366Ter)
c.78181C>T (p.Gln26061Ter)
c.77980C>T (p.Gln25994Ter)
c.77605C>T (p.Gln25869Ter)
c.104800C>T (p.Gln34934Ter)
c.99877C>T (p.Gln33293Ter)
n.446+8179G>A
n.220-3917G>A
c.103897C>T (p.Gln34633Ter)
c.77791C>T (p.Gln25931Ter)
c.77650C>T (p.Gln25884Ter)
c.103693C>T (p.Gln34565Ter)
c.99091C>T (p.Gln33031Ter)
c.99088C>T (p.Gln33030Ter)
c.96130C>T (p.Gln32044Ter)
c.77746C>T (p.Gln25916Ter)
c.99241C>T (p.Gln33081Ter)
c.99238C>T (p.Gln33080Ter)
c.98671C>T (p.Gln32891Ter)
c.96013C>T (p.Gln32005Ter)
c.95932C>T (p.Gln31978Ter)
c.77695C>T (p.Gln25899Ter)
c.67549C>T (p.Gln22517Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178531815G>CCA349410896TTN,TTN-AS1c.97096C>G (p.Gln32366Glu)
c.78181C>G (p.Gln26061Glu)
c.77980C>G (p.Gln25994Glu)
c.77605C>G (p.Gln25869Glu)
c.104800C>G (p.Gln34934Glu)
c.99877C>G (p.Gln33293Glu)
n.446+8179G>C
n.220-3917G>C
c.103897C>G (p.Gln34633Glu)
c.77791C>G (p.Gln25931Glu)
c.77650C>G (p.Gln25884Glu)
c.103693C>G (p.Gln34565Glu)
c.99091C>G (p.Gln33031Glu)
c.99088C>G (p.Gln33030Glu)
c.96130C>G (p.Gln32044Glu)
c.77746C>G (p.Gln25916Glu)
c.99241C>G (p.Gln33081Glu)
c.99238C>G (p.Gln33080Glu)
c.98671C>G (p.Gln32891Glu)
c.96013C>G (p.Gln32005Glu)
c.95932C>G (p.Gln31978Glu)
c.77695C>G (p.Gln25899Glu)
c.67549C>G (p.Gln22517Glu)
 gnomAD v4
2g.178531815G=CA1310517933TTN,TTN-AS1c.97096C= (p.Gln32366=)
c.78181C= (p.Gln26061=)
c.77980C= (p.Gln25994=)
c.77605C= (p.Gln25869=)
c.104800C= (p.Gln34934=)
c.99877C= (p.Gln33293=)
n.446+8179G=
n.220-3917G=
c.103897C= (p.Gln34633=)
c.77791C= (p.Gln25931=)
c.77650C= (p.Gln25884=)
c.103693C= (p.Gln34565=)
c.99091C= (p.Gln33031=)
c.99088C= (p.Gln33030=)
c.96130C= (p.Gln32044=)
c.77746C= (p.Gln25916=)
c.99241C= (p.Gln33081=)
c.99238C= (p.Gln33080=)
c.98671C= (p.Gln32891=)
c.96013C= (p.Gln32005=)
c.95932C= (p.Gln31978=)
c.77695C= (p.Gln25899=)
c.67549C= (p.Gln22517=)
2g.178531815G>TCA349410897TTN,TTN-AS1c.97096C>A (p.Gln32366Lys)
c.78181C>A (p.Gln26061Lys)
c.77980C>A (p.Gln25994Lys)
c.77605C>A (p.Gln25869Lys)
c.104800C>A (p.Gln34934Lys)
c.99877C>A (p.Gln33293Lys)
n.446+8179G>T
n.220-3917G>T
c.103897C>A (p.Gln34633Lys)
c.77791C>A (p.Gln25931Lys)
c.77650C>A (p.Gln25884Lys)
c.103693C>A (p.Gln34565Lys)
c.99091C>A (p.Gln33031Lys)
c.99088C>A (p.Gln33030Lys)
c.96130C>A (p.Gln32044Lys)
c.77746C>A (p.Gln25916Lys)
c.99241C>A (p.Gln33081Lys)
c.99238C>A (p.Gln33080Lys)
c.98671C>A (p.Gln32891Lys)
c.96013C>A (p.Gln32005Lys)
c.95932C>A (p.Gln31978Lys)
c.77695C>A (p.Gln25899Lys)
c.67549C>A (p.Gln22517Lys)
 ClinVar
2g.178531816C>ACA349410898TTN,TTN-AS1c.97095G>T (p.Gln32365His)
c.78180G>T (p.Gln26060His)
c.77979G>T (p.Gln25993His)
c.77604G>T (p.Gln25868His)
c.104799G>T (p.Gln34933His)
c.99876G>T (p.Gln33292His)
n.446+8180C>A
n.220-3916C>A
c.103896G>T (p.Gln34632His)
c.77790G>T (p.Gln25930His)
c.77649G>T (p.Gln25883His)
c.103692G>T (p.Gln34564His)
c.99090G>T (p.Gln33030His)
c.99087G>T (p.Gln33029His)
c.96129G>T (p.Gln32043His)
c.77745G>T (p.Gln25915His)
c.99240G>T (p.Gln33080His)
c.99237G>T (p.Gln33079His)
c.98670G>T (p.Gln32890His)
c.96012G>T (p.Gln32004His)
c.95931G>T (p.Gln31977His)
c.77694G>T (p.Gln25898His)
c.67548G>T (p.Gln22516His)
2g.178531816C=CA1310517934TTN,TTN-AS1c.97095G= (p.Gln32365=)
c.78180G= (p.Gln26060=)
c.77979G= (p.Gln25993=)
c.77604G= (p.Gln25868=)
c.104799G= (p.Gln34933=)
c.99876G= (p.Gln33292=)
n.446+8180C=
n.220-3916C=
c.103896G= (p.Gln34632=)
c.77790G= (p.Gln25930=)
c.77649G= (p.Gln25883=)
c.103692G= (p.Gln34564=)
c.99090G= (p.Gln33030=)
c.99087G= (p.Gln33029=)
c.96129G= (p.Gln32043=)
c.77745G= (p.Gln25915=)
c.99240G= (p.Gln33080=)
c.99237G= (p.Gln33079=)
c.98670G= (p.Gln32890=)
c.96012G= (p.Gln32004=)
c.95931G= (p.Gln31977=)
c.77694G= (p.Gln25898=)
c.67548G= (p.Gln22516=)
2g.178531816C>GCA349410899TTN,TTN-AS1c.97095G>C (p.Gln32365His)
c.78180G>C (p.Gln26060His)
c.77979G>C (p.Gln25993His)
c.77604G>C (p.Gln25868His)
c.104799G>C (p.Gln34933His)
c.99876G>C (p.Gln33292His)
n.446+8180C>G
n.220-3916C>G
c.103896G>C (p.Gln34632His)
c.77790G>C (p.Gln25930His)
c.77649G>C (p.Gln25883His)
c.103692G>C (p.Gln34564His)
c.99090G>C (p.Gln33030His)
c.99087G>C (p.Gln33029His)
c.96129G>C (p.Gln32043His)
c.77745G>C (p.Gln25915His)
c.99240G>C (p.Gln33080His)
c.99237G>C (p.Gln33079His)
c.98670G>C (p.Gln32890His)
c.96012G>C (p.Gln32004His)
c.95931G>C (p.Gln31977His)
c.77694G>C (p.Gln25898His)
c.67548G>C (p.Gln22516His)
2g.178531816C>TCA430235428TTN,TTN-AS1c.97095G>A (p.Gln32365=)
c.78180G>A (p.Gln26060=)
c.77979G>A (p.Gln25993=)
c.77604G>A (p.Gln25868=)
c.104799G>A (p.Gln34933=)
c.99876G>A (p.Gln33292=)
n.446+8180C>T
n.220-3916C>T
c.103896G>A (p.Gln34632=)
c.77790G>A (p.Gln25930=)
c.77649G>A (p.Gln25883=)
c.103692G>A (p.Gln34564=)
c.99090G>A (p.Gln33030=)
c.99087G>A (p.Gln33029=)
c.96129G>A (p.Gln32043=)
c.77745G>A (p.Gln25915=)
c.99240G>A (p.Gln33080=)
c.99237G>A (p.Gln33079=)
c.98670G>A (p.Gln32890=)
c.96012G>A (p.Gln32004=)
c.95931G>A (p.Gln31977=)
c.77694G>A (p.Gln25898=)
c.67548G>A (p.Gln22516=)
 dbSNP gnomAD v3 gnomAD v4
2g.178531817T>ACA1985357TTN,TTN-AS1c.97094A>T (p.Gln32365Leu)
c.78179A>T (p.Gln26060Leu)
c.77978A>T (p.Gln25993Leu)
c.77603A>T (p.Gln25868Leu)
c.104798A>T (p.Gln34933Leu)
c.99875A>T (p.Gln33292Leu)
n.446+8181T>A
n.220-3915T>A
c.103895A>T (p.Gln34632Leu)
c.77789A>T (p.Gln25930Leu)
c.77648A>T (p.Gln25883Leu)
c.103691A>T (p.Gln34564Leu)
c.99089A>T (p.Gln33030Leu)
c.99086A>T (p.Gln33029Leu)
c.96128A>T (p.Gln32043Leu)
c.77744A>T (p.Gln25915Leu)
c.99239A>T (p.Gln33080Leu)
c.99236A>T (p.Gln33079Leu)
c.98669A>T (p.Gln32890Leu)
c.96011A>T (p.Gln32004Leu)
c.95930A>T (p.Gln31977Leu)
c.77693A>T (p.Gln25898Leu)
c.67547A>T (p.Gln22516Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531817T>CCA349410900TTN,TTN-AS1c.97094A>G (p.Gln32365Arg)
c.78179A>G (p.Gln26060Arg)
c.77978A>G (p.Gln25993Arg)
c.77603A>G (p.Gln25868Arg)
c.104798A>G (p.Gln34933Arg)
c.99875A>G (p.Gln33292Arg)
n.446+8181T>C
n.220-3915T>C
c.103895A>G (p.Gln34632Arg)
c.77789A>G (p.Gln25930Arg)
c.77648A>G (p.Gln25883Arg)
c.103691A>G (p.Gln34564Arg)
c.99089A>G (p.Gln33030Arg)
c.99086A>G (p.Gln33029Arg)
c.96128A>G (p.Gln32043Arg)
c.77744A>G (p.Gln25915Arg)
c.99239A>G (p.Gln33080Arg)
c.99236A>G (p.Gln33079Arg)
c.98669A>G (p.Gln32890Arg)
c.96011A>G (p.Gln32004Arg)
c.95930A>G (p.Gln31977Arg)
c.77693A>G (p.Gln25898Arg)
c.67547A>G (p.Gln22516Arg)
 ClinVar
2g.178531817T>GCA349410901TTN,TTN-AS1c.97094A>C (p.Gln32365Pro)
c.78179A>C (p.Gln26060Pro)
c.77978A>C (p.Gln25993Pro)
c.77603A>C (p.Gln25868Pro)
c.104798A>C (p.Gln34933Pro)
c.99875A>C (p.Gln33292Pro)
n.446+8181T>G
n.220-3915T>G
c.103895A>C (p.Gln34632Pro)
c.77789A>C (p.Gln25930Pro)
c.77648A>C (p.Gln25883Pro)
c.103691A>C (p.Gln34564Pro)
c.99089A>C (p.Gln33030Pro)
c.99086A>C (p.Gln33029Pro)
c.96128A>C (p.Gln32043Pro)
c.77744A>C (p.Gln25915Pro)
c.99239A>C (p.Gln33080Pro)
c.99236A>C (p.Gln33079Pro)
c.98669A>C (p.Gln32890Pro)
c.96011A>C (p.Gln32004Pro)
c.95930A>C (p.Gln31977Pro)
c.77693A>C (p.Gln25898Pro)
c.67547A>C (p.Gln22516Pro)
2g.178531817T=CA1310517935TTN,TTN-AS1c.97094A= (p.Gln32365=)
c.78179A= (p.Gln26060=)
c.77978A= (p.Gln25993=)
c.77603A= (p.Gln25868=)
c.104798A= (p.Gln34933=)
c.99875A= (p.Gln33292=)
n.446+8181T=
n.220-3915T=
c.103895A= (p.Gln34632=)
c.77789A= (p.Gln25930=)
c.77648A= (p.Gln25883=)
c.103691A= (p.Gln34564=)
c.99089A= (p.Gln33030=)
c.99086A= (p.Gln33029=)
c.96128A= (p.Gln32043=)
c.77744A= (p.Gln25915=)
c.99239A= (p.Gln33080=)
c.99236A= (p.Gln33079=)
c.98669A= (p.Gln32890=)
c.96011A= (p.Gln32004=)
c.95930A= (p.Gln31977=)
c.77693A= (p.Gln25898=)
c.67547A= (p.Gln22516=)
2g.178531818G>ACA349410902TTN,TTN-AS1c.97093C>T (p.Gln32365Ter)
c.78178C>T (p.Gln26060Ter)
c.77977C>T (p.Gln25993Ter)
c.77602C>T (p.Gln25868Ter)
c.104797C>T (p.Gln34933Ter)
c.99874C>T (p.Gln33292Ter)
n.446+8182G>A
n.220-3914G>A
c.103894C>T (p.Gln34632Ter)
c.77788C>T (p.Gln25930Ter)
c.77647C>T (p.Gln25883Ter)
c.103690C>T (p.Gln34564Ter)
c.99088C>T (p.Gln33030Ter)
c.99085C>T (p.Gln33029Ter)
c.96127C>T (p.Gln32043Ter)
c.77743C>T (p.Gln25915Ter)
c.99238C>T (p.Gln33080Ter)
c.99235C>T (p.Gln33079Ter)
c.98668C>T (p.Gln32890Ter)
c.96010C>T (p.Gln32004Ter)
c.95929C>T (p.Gln31977Ter)
c.77692C>T (p.Gln25898Ter)
c.67546C>T (p.Gln22516Ter)
2g.178531818G>CCA349410903TTN,TTN-AS1c.97093C>G (p.Gln32365Glu)
c.78178C>G (p.Gln26060Glu)
c.77977C>G (p.Gln25993Glu)
c.77602C>G (p.Gln25868Glu)
c.104797C>G (p.Gln34933Glu)
c.99874C>G (p.Gln33292Glu)
n.446+8182G>C
n.220-3914G>C
c.103894C>G (p.Gln34632Glu)
c.77788C>G (p.Gln25930Glu)
c.77647C>G (p.Gln25883Glu)
c.103690C>G (p.Gln34564Glu)
c.99088C>G (p.Gln33030Glu)
c.99085C>G (p.Gln33029Glu)
c.96127C>G (p.Gln32043Glu)
c.77743C>G (p.Gln25915Glu)
c.99238C>G (p.Gln33080Glu)
c.99235C>G (p.Gln33079Glu)
c.98668C>G (p.Gln32890Glu)
c.96010C>G (p.Gln32004Glu)
c.95929C>G (p.Gln31977Glu)
c.77692C>G (p.Gln25898Glu)
c.67546C>G (p.Gln22516Glu)
2g.178531818G>TCA349410904TTN,TTN-AS1c.97093C>A (p.Gln32365Lys)
c.78178C>A (p.Gln26060Lys)
c.77977C>A (p.Gln25993Lys)
c.77602C>A (p.Gln25868Lys)
c.104797C>A (p.Gln34933Lys)
c.99874C>A (p.Gln33292Lys)
n.446+8182G>T
n.220-3914G>T
c.103894C>A (p.Gln34632Lys)
c.77788C>A (p.Gln25930Lys)
c.77647C>A (p.Gln25883Lys)
c.103690C>A (p.Gln34564Lys)
c.99088C>A (p.Gln33030Lys)
c.99085C>A (p.Gln33029Lys)
c.96127C>A (p.Gln32043Lys)
c.77743C>A (p.Gln25915Lys)
c.99238C>A (p.Gln33080Lys)
c.99235C>A (p.Gln33079Lys)
c.98668C>A (p.Gln32890Lys)
c.96010C>A (p.Gln32004Lys)
c.95929C>A (p.Gln31977Lys)
c.77692C>A (p.Gln25898Lys)
c.67546C>A (p.Gln22516Lys)
2g.178531819A=CA1310517936TTN,TTN-AS1c.97092T= (p.Ser32364=)
c.78177T= (p.Ser26059=)
c.77976T= (p.Ser25992=)
c.77601T= (p.Ser25867=)
c.104796T= (p.Ser34932=)
c.99873T= (p.Ser33291=)
n.446+8183A=
n.220-3913A=
c.103893T= (p.Ser34631=)
c.77787T= (p.Ser25929=)
c.77646T= (p.Ser25882=)
c.103689T= (p.Ser34563=)
c.99087T= (p.Ser33029=)
c.99084T= (p.Ser33028=)
c.96126T= (p.Ser32042=)
c.77742T= (p.Ser25914=)
c.99237T= (p.Ser33079=)
c.99234T= (p.Ser33078=)
c.98667T= (p.Ser32889=)
c.96009T= (p.Ser32003=)
c.95928T= (p.Ser31976=)
c.77691T= (p.Ser25897=)
c.67545T= (p.Ser22515=)
2g.178531819A>CCA311196TTN,TTN-AS1c.97092T>G (p.Ser32364Arg)
c.78177T>G (p.Ser26059Arg)
c.77976T>G (p.Ser25992Arg)
c.77601T>G (p.Ser25867Arg)
c.104796T>G (p.Ser34932Arg)
c.99873T>G (p.Ser33291Arg)
n.446+8183A>C
n.220-3913A>C
c.103893T>G (p.Ser34631Arg)
c.77787T>G (p.Ser25929Arg)
c.77646T>G (p.Ser25882Arg)
c.103689T>G (p.Ser34563Arg)
c.99087T>G (p.Ser33029Arg)
c.99084T>G (p.Ser33028Arg)
c.96126T>G (p.Ser32042Arg)
c.77742T>G (p.Ser25914Arg)
c.99237T>G (p.Ser33079Arg)
c.99234T>G (p.Ser33078Arg)
c.98667T>G (p.Ser32889Arg)
c.96009T>G (p.Ser32003Arg)
c.95928T>G (p.Ser31976Arg)
c.77691T>G (p.Ser25897Arg)
c.67545T>G (p.Ser22515Arg)
 ClinVar dbSNP gnomAD v4
2g.178531819A>GCA430235432TTN,TTN-AS1c.97092T>C (p.Ser32364=)
c.78177T>C (p.Ser26059=)
c.77976T>C (p.Ser25992=)
c.77601T>C (p.Ser25867=)
c.104796T>C (p.Ser34932=)
c.99873T>C (p.Ser33291=)
n.446+8183A>G
n.220-3913A>G
c.103893T>C (p.Ser34631=)
c.77787T>C (p.Ser25929=)
c.77646T>C (p.Ser25882=)
c.103689T>C (p.Ser34563=)
c.99087T>C (p.Ser33029=)
c.99084T>C (p.Ser33028=)
c.96126T>C (p.Ser32042=)
c.77742T>C (p.Ser25914=)
c.99237T>C (p.Ser33079=)
c.99234T>C (p.Ser33078=)
c.98667T>C (p.Ser32889=)
c.96009T>C (p.Ser32003=)
c.95928T>C (p.Ser31976=)
c.77691T>C (p.Ser25897=)
c.67545T>C (p.Ser22515=)
2g.178531819A>TCA349410905TTN,TTN-AS1c.97092T>A (p.Ser32364Arg)
c.78177T>A (p.Ser26059Arg)
c.77976T>A (p.Ser25992Arg)
c.77601T>A (p.Ser25867Arg)
c.104796T>A (p.Ser34932Arg)
c.99873T>A (p.Ser33291Arg)
n.446+8183A>T
n.220-3913A>T
c.103893T>A (p.Ser34631Arg)
c.77787T>A (p.Ser25929Arg)
c.77646T>A (p.Ser25882Arg)
c.103689T>A (p.Ser34563Arg)
c.99087T>A (p.Ser33029Arg)
c.99084T>A (p.Ser33028Arg)
c.96126T>A (p.Ser32042Arg)
c.77742T>A (p.Ser25914Arg)
c.99237T>A (p.Ser33079Arg)
c.99234T>A (p.Ser33078Arg)
c.98667T>A (p.Ser32889Arg)
c.96009T>A (p.Ser32003Arg)
c.95928T>A (p.Ser31976Arg)
c.77691T>A (p.Ser25897Arg)
c.67545T>A (p.Ser22515Arg)
2g.178531820C>ACA349410906TTN,TTN-AS1c.97091G>T (p.Ser32364Ile)
c.78176G>T (p.Ser26059Ile)
c.77975G>T (p.Ser25992Ile)
c.77600G>T (p.Ser25867Ile)
c.104795G>T (p.Ser34932Ile)
c.99872G>T (p.Ser33291Ile)
n.446+8184C>A
n.220-3912C>A
c.103892G>T (p.Ser34631Ile)
c.77786G>T (p.Ser25929Ile)
c.77645G>T (p.Ser25882Ile)
c.103688G>T (p.Ser34563Ile)
c.99086G>T (p.Ser33029Ile)
c.99083G>T (p.Ser33028Ile)
c.96125G>T (p.Ser32042Ile)
c.77741G>T (p.Ser25914Ile)
c.99236G>T (p.Ser33079Ile)
c.99233G>T (p.Ser33078Ile)
c.98666G>T (p.Ser32889Ile)
c.96008G>T (p.Ser32003Ile)
c.95927G>T (p.Ser31976Ile)
c.77690G>T (p.Ser25897Ile)
c.67544G>T (p.Ser22515Ile)
2g.178531820C>GCA349410908TTN,TTN-AS1c.97091G>C (p.Ser32364Thr)
c.78176G>C (p.Ser26059Thr)
c.77975G>C (p.Ser25992Thr)
c.77600G>C (p.Ser25867Thr)
c.104795G>C (p.Ser34932Thr)
c.99872G>C (p.Ser33291Thr)
n.446+8184C>G
n.220-3912C>G
c.103892G>C (p.Ser34631Thr)
c.77786G>C (p.Ser25929Thr)
c.77645G>C (p.Ser25882Thr)
c.103688G>C (p.Ser34563Thr)
c.99086G>C (p.Ser33029Thr)
c.99083G>C (p.Ser33028Thr)
c.96125G>C (p.Ser32042Thr)
c.77741G>C (p.Ser25914Thr)
c.99236G>C (p.Ser33079Thr)
c.99233G>C (p.Ser33078Thr)
c.98666G>C (p.Ser32889Thr)
c.96008G>C (p.Ser32003Thr)
c.95927G>C (p.Ser31976Thr)
c.77690G>C (p.Ser25897Thr)
c.67544G>C (p.Ser22515Thr)
2g.178531820C>TCA349410907TTN,TTN-AS1c.97091G>A (p.Ser32364Asn)
c.78176G>A (p.Ser26059Asn)
c.77975G>A (p.Ser25992Asn)
c.77600G>A (p.Ser25867Asn)
c.104795G>A (p.Ser34932Asn)
c.99872G>A (p.Ser33291Asn)
n.446+8184C>T
n.220-3912C>T
c.103892G>A (p.Ser34631Asn)
c.77786G>A (p.Ser25929Asn)
c.77645G>A (p.Ser25882Asn)
c.103688G>A (p.Ser34563Asn)
c.99086G>A (p.Ser33029Asn)
c.99083G>A (p.Ser33028Asn)
c.96125G>A (p.Ser32042Asn)
c.77741G>A (p.Ser25914Asn)
c.99236G>A (p.Ser33079Asn)
c.99233G>A (p.Ser33078Asn)
c.98666G>A (p.Ser32889Asn)
c.96008G>A (p.Ser32003Asn)
c.95927G>A (p.Ser31976Asn)
c.77690G>A (p.Ser25897Asn)
c.67544G>A (p.Ser22515Asn)
2g.178531821T>ACA349410909TTN,TTN-AS1c.97090A>T (p.Ser32364Cys)
c.78175A>T (p.Ser26059Cys)
c.77974A>T (p.Ser25992Cys)
c.77599A>T (p.Ser25867Cys)
c.104794A>T (p.Ser34932Cys)
c.99871A>T (p.Ser33291Cys)
n.446+8185T>A
n.220-3911T>A
c.103891A>T (p.Ser34631Cys)
c.77785A>T (p.Ser25929Cys)
c.77644A>T (p.Ser25882Cys)
c.103687A>T (p.Ser34563Cys)
c.99085A>T (p.Ser33029Cys)
c.99082A>T (p.Ser33028Cys)
c.96124A>T (p.Ser32042Cys)
c.77740A>T (p.Ser25914Cys)
c.99235A>T (p.Ser33079Cys)
c.99232A>T (p.Ser33078Cys)
c.98665A>T (p.Ser32889Cys)
c.96007A>T (p.Ser32003Cys)
c.95926A>T (p.Ser31976Cys)
c.77689A>T (p.Ser25897Cys)
c.67543A>T (p.Ser22515Cys)
2g.178531821T>CCA1985358TTN,TTN-AS1c.97090A>G (p.Ser32364Gly)
c.78175A>G (p.Ser26059Gly)
c.77974A>G (p.Ser25992Gly)
c.77599A>G (p.Ser25867Gly)
c.104794A>G (p.Ser34932Gly)
c.99871A>G (p.Ser33291Gly)
n.446+8185T>C
n.220-3911T>C
c.103891A>G (p.Ser34631Gly)
c.77785A>G (p.Ser25929Gly)
c.77644A>G (p.Ser25882Gly)
c.103687A>G (p.Ser34563Gly)
c.99085A>G (p.Ser33029Gly)
c.99082A>G (p.Ser33028Gly)
c.96124A>G (p.Ser32042Gly)
c.77740A>G (p.Ser25914Gly)
c.99235A>G (p.Ser33079Gly)
c.99232A>G (p.Ser33078Gly)
c.98665A>G (p.Ser32889Gly)
c.96007A>G (p.Ser32003Gly)
c.95926A>G (p.Ser31976Gly)
c.77689A>G (p.Ser25897Gly)
c.67543A>G (p.Ser22515Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531821T>GCA349410910TTN,TTN-AS1c.97090A>C (p.Ser32364Arg)
c.78175A>C (p.Ser26059Arg)
c.77974A>C (p.Ser25992Arg)
c.77599A>C (p.Ser25867Arg)
c.104794A>C (p.Ser34932Arg)
c.99871A>C (p.Ser33291Arg)
n.446+8185T>G
n.220-3911T>G
c.103891A>C (p.Ser34631Arg)
c.77785A>C (p.Ser25929Arg)
c.77644A>C (p.Ser25882Arg)
c.103687A>C (p.Ser34563Arg)
c.99085A>C (p.Ser33029Arg)
c.99082A>C (p.Ser33028Arg)
c.96124A>C (p.Ser32042Arg)
c.77740A>C (p.Ser25914Arg)
c.99235A>C (p.Ser33079Arg)
c.99232A>C (p.Ser33078Arg)
c.98665A>C (p.Ser32889Arg)
c.96007A>C (p.Ser32003Arg)
c.95926A>C (p.Ser31976Arg)
c.77689A>C (p.Ser25897Arg)
c.67543A>C (p.Ser22515Arg)
2g.178531821T=CA1310517937TTN,TTN-AS1c.97090A= (p.Ser32364=)
c.78175A= (p.Ser26059=)
c.77974A= (p.Ser25992=)
c.77599A= (p.Ser25867=)
c.104794A= (p.Ser34932=)
c.99871A= (p.Ser33291=)
n.446+8185T=
n.220-3911T=
c.103891A= (p.Ser34631=)
c.77785A= (p.Ser25929=)
c.77644A= (p.Ser25882=)
c.103687A= (p.Ser34563=)
c.99085A= (p.Ser33029=)
c.99082A= (p.Ser33028=)
c.96124A= (p.Ser32042=)
c.77740A= (p.Ser25914=)
c.99235A= (p.Ser33079=)
c.99232A= (p.Ser33078=)
c.98665A= (p.Ser32889=)
c.96007A= (p.Ser32003=)
c.95926A= (p.Ser31976=)
c.77689A= (p.Ser25897=)
c.67543A= (p.Ser22515=)
2g.178531822C>ACA349410911TTN,TTN-AS1c.97089G>T (p.Leu32363Phe)
c.78174G>T (p.Leu26058Phe)
c.77973G>T (p.Leu25991Phe)
c.77598G>T (p.Leu25866Phe)
c.104793G>T (p.Leu34931Phe)
c.99870G>T (p.Leu33290Phe)
n.446+8186C>A
n.220-3910C>A
c.103890G>T (p.Leu34630Phe)
c.77784G>T (p.Leu25928Phe)
c.77643G>T (p.Leu25881Phe)
c.103686G>T (p.Leu34562Phe)
c.99084G>T (p.Leu33028Phe)
c.99081G>T (p.Leu33027Phe)
c.96123G>T (p.Leu32041Phe)
c.77739G>T (p.Leu25913Phe)
c.99234G>T (p.Leu33078Phe)
c.99231G>T (p.Leu33077Phe)
c.98664G>T (p.Leu32888Phe)
c.96006G>T (p.Leu32002Phe)
c.95925G>T (p.Leu31975Phe)
c.77688G>T (p.Leu25896Phe)
c.67542G>T (p.Leu22514Phe)
2g.178531822C=CA1310517938TTN,TTN-AS1c.97089G= (p.Leu32363=)
c.78174G= (p.Leu26058=)
c.77973G= (p.Leu25991=)
c.77598G= (p.Leu25866=)
c.104793G= (p.Leu34931=)
c.99870G= (p.Leu33290=)
n.446+8186C=
n.220-3910C=
c.103890G= (p.Leu34630=)
c.77784G= (p.Leu25928=)
c.77643G= (p.Leu25881=)
c.103686G= (p.Leu34562=)
c.99084G= (p.Leu33028=)
c.99081G= (p.Leu33027=)
c.96123G= (p.Leu32041=)
c.77739G= (p.Leu25913=)
c.99234G= (p.Leu33078=)
c.99231G= (p.Leu33077=)
c.98664G= (p.Leu32888=)
c.96006G= (p.Leu32002=)
c.95925G= (p.Leu31975=)
c.77688G= (p.Leu25896=)
c.67542G= (p.Leu22514=)
2g.178531822C>GCA349410912TTN,TTN-AS1c.97089G>C (p.Leu32363Phe)
c.78174G>C (p.Leu26058Phe)
c.77973G>C (p.Leu25991Phe)
c.77598G>C (p.Leu25866Phe)
c.104793G>C (p.Leu34931Phe)
c.99870G>C (p.Leu33290Phe)
n.446+8186C>G
n.220-3910C>G
c.103890G>C (p.Leu34630Phe)
c.77784G>C (p.Leu25928Phe)
c.77643G>C (p.Leu25881Phe)
c.103686G>C (p.Leu34562Phe)
c.99084G>C (p.Leu33028Phe)
c.99081G>C (p.Leu33027Phe)
c.96123G>C (p.Leu32041Phe)
c.77739G>C (p.Leu25913Phe)
c.99234G>C (p.Leu33078Phe)
c.99231G>C (p.Leu33077Phe)
c.98664G>C (p.Leu32888Phe)
c.96006G>C (p.Leu32002Phe)
c.95925G>C (p.Leu31975Phe)
c.77688G>C (p.Leu25896Phe)
c.67542G>C (p.Leu22514Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.178531822C>TCA430235436TTN,TTN-AS1c.97089G>A (p.Leu32363=)
c.78174G>A (p.Leu26058=)
c.77973G>A (p.Leu25991=)
c.77598G>A (p.Leu25866=)
c.104793G>A (p.Leu34931=)
c.99870G>A (p.Leu33290=)
n.446+8186C>T
n.220-3910C>T
c.103890G>A (p.Leu34630=)
c.77784G>A (p.Leu25928=)
c.77643G>A (p.Leu25881=)
c.103686G>A (p.Leu34562=)
c.99084G>A (p.Leu33028=)
c.99081G>A (p.Leu33027=)
c.96123G>A (p.Leu32041=)
c.77739G>A (p.Leu25913=)
c.99234G>A (p.Leu33078=)
c.99231G>A (p.Leu33077=)
c.98664G>A (p.Leu32888=)
c.96006G>A (p.Leu32002=)
c.95925G>A (p.Leu31975=)
c.77688G>A (p.Leu25896=)
c.67542G>A (p.Leu22514=)
2g.178531823A>CCA349410913TTN,TTN-AS1c.97088T>G (p.Leu32363Trp)
c.78173T>G (p.Leu26058Trp)
c.77972T>G (p.Leu25991Trp)
c.77597T>G (p.Leu25866Trp)
c.104792T>G (p.Leu34931Trp)
c.99869T>G (p.Leu33290Trp)
n.446+8187A>C
n.220-3909A>C
c.103889T>G (p.Leu34630Trp)
c.77783T>G (p.Leu25928Trp)
c.77642T>G (p.Leu25881Trp)
c.103685T>G (p.Leu34562Trp)
c.99083T>G (p.Leu33028Trp)
c.99080T>G (p.Leu33027Trp)
c.96122T>G (p.Leu32041Trp)
c.77738T>G (p.Leu25913Trp)
c.99233T>G (p.Leu33078Trp)
c.99230T>G (p.Leu33077Trp)
c.98663T>G (p.Leu32888Trp)
c.96005T>G (p.Leu32002Trp)
c.95924T>G (p.Leu31975Trp)
c.77687T>G (p.Leu25896Trp)
c.67541T>G (p.Leu22514Trp)
 ClinVar
2g.178531823A>GCA349410914TTN,TTN-AS1c.97088T>C (p.Leu32363Ser)
c.78173T>C (p.Leu26058Ser)
c.77972T>C (p.Leu25991Ser)
c.77597T>C (p.Leu25866Ser)
c.104792T>C (p.Leu34931Ser)
c.99869T>C (p.Leu33290Ser)
n.446+8187A>G
n.220-3909A>G
c.103889T>C (p.Leu34630Ser)
c.77783T>C (p.Leu25928Ser)
c.77642T>C (p.Leu25881Ser)
c.103685T>C (p.Leu34562Ser)
c.99083T>C (p.Leu33028Ser)
c.99080T>C (p.Leu33027Ser)
c.96122T>C (p.Leu32041Ser)
c.77738T>C (p.Leu25913Ser)
c.99233T>C (p.Leu33078Ser)
c.99230T>C (p.Leu33077Ser)
c.98663T>C (p.Leu32888Ser)
c.96005T>C (p.Leu32002Ser)
c.95924T>C (p.Leu31975Ser)
c.77687T>C (p.Leu25896Ser)
c.67541T>C (p.Leu22514Ser)
2g.178531823A>TCA349410915TTN,TTN-AS1c.97088T>A (p.Leu32363Ter)
c.78173T>A (p.Leu26058Ter)
c.77972T>A (p.Leu25991Ter)
c.77597T>A (p.Leu25866Ter)
c.104792T>A (p.Leu34931Ter)
c.99869T>A (p.Leu33290Ter)
n.446+8187A>T
n.220-3909A>T
c.103889T>A (p.Leu34630Ter)
c.77783T>A (p.Leu25928Ter)
c.77642T>A (p.Leu25881Ter)
c.103685T>A (p.Leu34562Ter)
c.99083T>A (p.Leu33028Ter)
c.99080T>A (p.Leu33027Ter)
c.96122T>A (p.Leu32041Ter)
c.77738T>A (p.Leu25913Ter)
c.99233T>A (p.Leu33078Ter)
c.99230T>A (p.Leu33077Ter)
c.98663T>A (p.Leu32888Ter)
c.96005T>A (p.Leu32002Ter)
c.95924T>A (p.Leu31975Ter)
c.77687T>A (p.Leu25896Ter)
c.67541T>A (p.Leu22514Ter)
2g.178531824A>CCA349410916TTN,TTN-AS1c.97087T>G (p.Leu32363Val)
c.78172T>G (p.Leu26058Val)
c.77971T>G (p.Leu25991Val)
c.77596T>G (p.Leu25866Val)
c.104791T>G (p.Leu34931Val)
c.99868T>G (p.Leu33290Val)
n.446+8188A>C
n.220-3908A>C
c.103888T>G (p.Leu34630Val)
c.77782T>G (p.Leu25928Val)
c.77641T>G (p.Leu25881Val)
c.103684T>G (p.Leu34562Val)
c.99082T>G (p.Leu33028Val)
c.99079T>G (p.Leu33027Val)
c.96121T>G (p.Leu32041Val)
c.77737T>G (p.Leu25913Val)
c.99232T>G (p.Leu33078Val)
c.99229T>G (p.Leu33077Val)
c.98662T>G (p.Leu32888Val)
c.96004T>G (p.Leu32002Val)
c.95923T>G (p.Leu31975Val)
c.77686T>G (p.Leu25896Val)
c.67540T>G (p.Leu22514Val)
2g.178531824A>GCA430235439TTN,TTN-AS1c.97087T>C (p.Leu32363=)
c.78172T>C (p.Leu26058=)
c.77971T>C (p.Leu25991=)
c.77596T>C (p.Leu25866=)
c.104791T>C (p.Leu34931=)
c.99868T>C (p.Leu33290=)
n.446+8188A>G
n.220-3908A>G
c.103888T>C (p.Leu34630=)
c.77782T>C (p.Leu25928=)
c.77641T>C (p.Leu25881=)
c.103684T>C (p.Leu34562=)
c.99082T>C (p.Leu33028=)
c.99079T>C (p.Leu33027=)
c.96121T>C (p.Leu32041=)
c.77737T>C (p.Leu25913=)
c.99232T>C (p.Leu33078=)
c.99229T>C (p.Leu33077=)
c.98662T>C (p.Leu32888=)
c.96004T>C (p.Leu32002=)
c.95923T>C (p.Leu31975=)
c.77686T>C (p.Leu25896=)
c.67540T>C (p.Leu22514=)
 ClinVar
2g.178531824A>TCA349410917TTN,TTN-AS1c.97087T>A (p.Leu32363Met)
c.78172T>A (p.Leu26058Met)
c.77971T>A (p.Leu25991Met)
c.77596T>A (p.Leu25866Met)
c.104791T>A (p.Leu34931Met)
c.99868T>A (p.Leu33290Met)
n.446+8188A>T
n.220-3908A>T
c.103888T>A (p.Leu34630Met)
c.77782T>A (p.Leu25928Met)
c.77641T>A (p.Leu25881Met)
c.103684T>A (p.Leu34562Met)
c.99082T>A (p.Leu33028Met)
c.99079T>A (p.Leu33027Met)
c.96121T>A (p.Leu32041Met)
c.77737T>A (p.Leu25913Met)
c.99232T>A (p.Leu33078Met)
c.99229T>A (p.Leu33077Met)
c.98662T>A (p.Leu32888Met)
c.96004T>A (p.Leu32002Met)
c.95923T>A (p.Leu31975Met)
c.77686T>A (p.Leu25896Met)
c.67540T>A (p.Leu22514Met)
2g.178531825A>CCA430235440TTN,TTN-AS1c.97086T>G (p.Val32362=)
c.78171T>G (p.Val26057=)
c.77970T>G (p.Val25990=)
c.77595T>G (p.Val25865=)
c.104790T>G (p.Val34930=)
c.99867T>G (p.Val33289=)
n.446+8189A>C
n.220-3907A>C
c.103887T>G (p.Val34629=)
c.77781T>G (p.Val25927=)
c.77640T>G (p.Val25880=)
c.103683T>G (p.Val34561=)
c.99081T>G (p.Val33027=)
c.99078T>G (p.Val33026=)
c.96120T>G (p.Val32040=)
c.77736T>G (p.Val25912=)
c.99231T>G (p.Val33077=)
c.99228T>G (p.Val33076=)
c.98661T>G (p.Val32887=)
c.96003T>G (p.Val32001=)
c.95922T>G (p.Val31974=)
c.77685T>G (p.Val25895=)
c.67539T>G (p.Val22513=)
2g.178531825A>GCA430235442TTN,TTN-AS1c.97086T>C (p.Val32362=)
c.78171T>C (p.Val26057=)
c.77970T>C (p.Val25990=)
c.77595T>C (p.Val25865=)
c.104790T>C (p.Val34930=)
c.99867T>C (p.Val33289=)
n.446+8189A>G
n.220-3907A>G
c.103887T>C (p.Val34629=)
c.77781T>C (p.Val25927=)
c.77640T>C (p.Val25880=)
c.103683T>C (p.Val34561=)
c.99081T>C (p.Val33027=)
c.99078T>C (p.Val33026=)
c.96120T>C (p.Val32040=)
c.77736T>C (p.Val25912=)
c.99231T>C (p.Val33077=)
c.99228T>C (p.Val33076=)
c.98661T>C (p.Val32887=)
c.96003T>C (p.Val32001=)
c.95922T>C (p.Val31974=)
c.77685T>C (p.Val25895=)
c.67539T>C (p.Val22513=)
2g.178531825A>TCA430235444TTN,TTN-AS1c.97086T>A (p.Val32362=)
c.78171T>A (p.Val26057=)
c.77970T>A (p.Val25990=)
c.77595T>A (p.Val25865=)
c.104790T>A (p.Val34930=)
c.99867T>A (p.Val33289=)
n.446+8189A>T
n.220-3907A>T
c.103887T>A (p.Val34629=)
c.77781T>A (p.Val25927=)
c.77640T>A (p.Val25880=)
c.103683T>A (p.Val34561=)
c.99081T>A (p.Val33027=)
c.99078T>A (p.Val33026=)
c.96120T>A (p.Val32040=)
c.77736T>A (p.Val25912=)
c.99231T>A (p.Val33077=)
c.99228T>A (p.Val33076=)
c.98661T>A (p.Val32887=)
c.96003T>A (p.Val32001=)
c.95922T>A (p.Val31974=)
c.77685T>A (p.Val25895=)
c.67539T>A (p.Val22513=)
2g.178531826A>CCA349410920TTN,TTN-AS1c.97085T>G (p.Val32362Gly)
c.78170T>G (p.Val26057Gly)
c.77969T>G (p.Val25990Gly)
c.77594T>G (p.Val25865Gly)
c.104789T>G (p.Val34930Gly)
c.99866T>G (p.Val33289Gly)
n.446+8190A>C
n.220-3906A>C
c.103886T>G (p.Val34629Gly)
c.77780T>G (p.Val25927Gly)
c.77639T>G (p.Val25880Gly)
c.103682T>G (p.Val34561Gly)
c.99080T>G (p.Val33027Gly)
c.99077T>G (p.Val33026Gly)
c.96119T>G (p.Val32040Gly)
c.77735T>G (p.Val25912Gly)
c.99230T>G (p.Val33077Gly)
c.99227T>G (p.Val33076Gly)
c.98660T>G (p.Val32887Gly)
c.96002T>G (p.Val32001Gly)
c.95921T>G (p.Val31974Gly)
c.77684T>G (p.Val25895Gly)
c.67538T>G (p.Val22513Gly)
2g.178531826A>GCA349410919TTN,TTN-AS1c.97085T>C (p.Val32362Ala)
c.78170T>C (p.Val26057Ala)
c.77969T>C (p.Val25990Ala)
c.77594T>C (p.Val25865Ala)
c.104789T>C (p.Val34930Ala)
c.99866T>C (p.Val33289Ala)
n.446+8190A>G
n.220-3906A>G
c.103886T>C (p.Val34629Ala)
c.77780T>C (p.Val25927Ala)
c.77639T>C (p.Val25880Ala)
c.103682T>C (p.Val34561Ala)
c.99080T>C (p.Val33027Ala)
c.99077T>C (p.Val33026Ala)
c.96119T>C (p.Val32040Ala)
c.77735T>C (p.Val25912Ala)
c.99230T>C (p.Val33077Ala)
c.99227T>C (p.Val33076Ala)
c.98660T>C (p.Val32887Ala)
c.96002T>C (p.Val32001Ala)
c.95921T>C (p.Val31974Ala)
c.77684T>C (p.Val25895Ala)
c.67538T>C (p.Val22513Ala)
2g.178531826A>TCA349410918TTN,TTN-AS1c.97085T>A (p.Val32362Asp)
c.78170T>A (p.Val26057Asp)
c.77969T>A (p.Val25990Asp)
c.77594T>A (p.Val25865Asp)
c.104789T>A (p.Val34930Asp)
c.99866T>A (p.Val33289Asp)
n.446+8190A>T
n.220-3906A>T
c.103886T>A (p.Val34629Asp)
c.77780T>A (p.Val25927Asp)
c.77639T>A (p.Val25880Asp)
c.103682T>A (p.Val34561Asp)
c.99080T>A (p.Val33027Asp)
c.99077T>A (p.Val33026Asp)
c.96119T>A (p.Val32040Asp)
c.77735T>A (p.Val25912Asp)
c.99230T>A (p.Val33077Asp)
c.99227T>A (p.Val33076Asp)
c.98660T>A (p.Val32887Asp)
c.96002T>A (p.Val32001Asp)
c.95921T>A (p.Val31974Asp)
c.77684T>A (p.Val25895Asp)
c.67538T>A (p.Val22513Asp)
2g.178531827C>ACA349410921TTN,TTN-AS1c.97084G>T (p.Val32362Phe)
c.78169G>T (p.Val26057Phe)
c.77968G>T (p.Val25990Phe)
c.77593G>T (p.Val25865Phe)
c.104788G>T (p.Val34930Phe)
c.99865G>T (p.Val33289Phe)
n.446+8191C>A
n.220-3905C>A
c.103885G>T (p.Val34629Phe)
c.77779G>T (p.Val25927Phe)
c.77638G>T (p.Val25880Phe)
c.103681G>T (p.Val34561Phe)
c.99079G>T (p.Val33027Phe)
c.99076G>T (p.Val33026Phe)
c.96118G>T (p.Val32040Phe)
c.77734G>T (p.Val25912Phe)
c.99229G>T (p.Val33077Phe)
c.99226G>T (p.Val33076Phe)
c.98659G>T (p.Val32887Phe)
c.96001G>T (p.Val32001Phe)
c.95920G>T (p.Val31974Phe)
c.77683G>T (p.Val25895Phe)
c.67537G>T (p.Val22513Phe)
2g.178531827C>GCA349410922TTN,TTN-AS1c.97084G>C (p.Val32362Leu)
c.78169G>C (p.Val26057Leu)
c.77968G>C (p.Val25990Leu)
c.77593G>C (p.Val25865Leu)
c.104788G>C (p.Val34930Leu)
c.99865G>C (p.Val33289Leu)
n.446+8191C>G
n.220-3905C>G
c.103885G>C (p.Val34629Leu)
c.77779G>C (p.Val25927Leu)
c.77638G>C (p.Val25880Leu)
c.103681G>C (p.Val34561Leu)
c.99079G>C (p.Val33027Leu)
c.99076G>C (p.Val33026Leu)
c.96118G>C (p.Val32040Leu)
c.77734G>C (p.Val25912Leu)
c.99229G>C (p.Val33077Leu)
c.99226G>C (p.Val33076Leu)
c.98659G>C (p.Val32887Leu)
c.96001G>C (p.Val32001Leu)
c.95920G>C (p.Val31974Leu)
c.77683G>C (p.Val25895Leu)
c.67537G>C (p.Val22513Leu)
2g.178531827C>TCA349410923TTN,TTN-AS1c.97084G>A (p.Val32362Ile)
c.78169G>A (p.Val26057Ile)
c.77968G>A (p.Val25990Ile)
c.77593G>A (p.Val25865Ile)
c.104788G>A (p.Val34930Ile)
c.99865G>A (p.Val33289Ile)
n.446+8191C>T
n.220-3905C>T
c.103885G>A (p.Val34629Ile)
c.77779G>A (p.Val25927Ile)
c.77638G>A (p.Val25880Ile)
c.103681G>A (p.Val34561Ile)
c.99079G>A (p.Val33027Ile)
c.99076G>A (p.Val33026Ile)
c.96118G>A (p.Val32040Ile)
c.77734G>A (p.Val25912Ile)
c.99229G>A (p.Val33077Ile)
c.99226G>A (p.Val33076Ile)
c.98659G>A (p.Val32887Ile)
c.96001G>A (p.Val32001Ile)
c.95920G>A (p.Val31974Ile)
c.77683G>A (p.Val25895Ile)
c.67537G>A (p.Val22513Ile)
2g.178531828T>ACA349410924TTN,TTN-AS1c.97083A>T (p.Glu32361Asp)
c.78168A>T (p.Glu26056Asp)
c.77967A>T (p.Glu25989Asp)
c.77592A>T (p.Glu25864Asp)
c.104787A>T (p.Glu34929Asp)
c.99864A>T (p.Glu33288Asp)
n.446+8192T>A
n.220-3904T>A
c.103884A>T (p.Glu34628Asp)
c.77778A>T (p.Glu25926Asp)
c.77637A>T (p.Glu25879Asp)
c.103680A>T (p.Glu34560Asp)
c.99078A>T (p.Glu33026Asp)
c.99075A>T (p.Glu33025Asp)
c.96117A>T (p.Glu32039Asp)
c.77733A>T (p.Glu25911Asp)
c.99228A>T (p.Glu33076Asp)
c.99225A>T (p.Glu33075Asp)
c.98658A>T (p.Glu32886Asp)
c.96000A>T (p.Glu32000Asp)
c.95919A>T (p.Glu31973Asp)
c.77682A>T (p.Glu25894Asp)
c.67536A>T (p.Glu22512Asp)
2g.178531828T>CCA1985359TTN,TTN-AS1c.97083A>G (p.Glu32361=)
c.78168A>G (p.Glu26056=)
c.77967A>G (p.Glu25989=)
c.77592A>G (p.Glu25864=)
c.104787A>G (p.Glu34929=)
c.99864A>G (p.Glu33288=)
n.446+8192T>C
n.220-3904T>C
c.103884A>G (p.Glu34628=)
c.77778A>G (p.Glu25926=)
c.77637A>G (p.Glu25879=)
c.103680A>G (p.Glu34560=)
c.99078A>G (p.Glu33026=)
c.99075A>G (p.Glu33025=)
c.96117A>G (p.Glu32039=)
c.77733A>G (p.Glu25911=)
c.99228A>G (p.Glu33076=)
c.99225A>G (p.Glu33075=)
c.98658A>G (p.Glu32886=)
c.96000A>G (p.Glu32000=)
c.95919A>G (p.Glu31973=)
c.77682A>G (p.Glu25894=)
c.67536A>G (p.Glu22512=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178531828T>GCA349410925TTN,TTN-AS1c.97083A>C (p.Glu32361Asp)
c.78168A>C (p.Glu26056Asp)
c.77967A>C (p.Glu25989Asp)
c.77592A>C (p.Glu25864Asp)
c.104787A>C (p.Glu34929Asp)
c.99864A>C (p.Glu33288Asp)
n.446+8192T>G
n.220-3904T>G
c.103884A>C (p.Glu34628Asp)
c.77778A>C (p.Glu25926Asp)
c.77637A>C (p.Glu25879Asp)
c.103680A>C (p.Glu34560Asp)
c.99078A>C (p.Glu33026Asp)
c.99075A>C (p.Glu33025Asp)
c.96117A>C (p.Glu32039Asp)
c.77733A>C (p.Glu25911Asp)
c.99228A>C (p.Glu33076Asp)
c.99225A>C (p.Glu33075Asp)
c.98658A>C (p.Glu32886Asp)
c.96000A>C (p.Glu32000Asp)
c.95919A>C (p.Glu31973Asp)
c.77682A>C (p.Glu25894Asp)
c.67536A>C (p.Glu22512Asp)
2g.178531828T=CA1310517939TTN,TTN-AS1c.97083A= (p.Glu32361=)
c.78168A= (p.Glu26056=)
c.77967A= (p.Glu25989=)
c.77592A= (p.Glu25864=)
c.104787A= (p.Glu34929=)
c.99864A= (p.Glu33288=)
n.446+8192T=
n.220-3904T=
c.103884A= (p.Glu34628=)
c.77778A= (p.Glu25926=)
c.77637A= (p.Glu25879=)
c.103680A= (p.Glu34560=)
c.99078A= (p.Glu33026=)
c.99075A= (p.Glu33025=)
c.96117A= (p.Glu32039=)
c.77733A= (p.Glu25911=)
c.99228A= (p.Glu33076=)
c.99225A= (p.Glu33075=)
c.98658A= (p.Glu32886=)
c.96000A= (p.Glu32000=)
c.95919A= (p.Glu31973=)
c.77682A= (p.Glu25894=)
c.67536A= (p.Glu22512=)
2g.178531829T>ACA349410926TTN,TTN-AS1c.97082A>T (p.Glu32361Val)
c.78167A>T (p.Glu26056Val)
c.77966A>T (p.Glu25989Val)
c.77591A>T (p.Glu25864Val)
c.104786A>T (p.Glu34929Val)
c.99863A>T (p.Glu33288Val)
n.446+8193T>A
n.220-3903T>A
c.103883A>T (p.Glu34628Val)
c.77777A>T (p.Glu25926Val)
c.77636A>T (p.Glu25879Val)
c.103679A>T (p.Glu34560Val)
c.99077A>T (p.Glu33026Val)
c.99074A>T (p.Glu33025Val)
c.96116A>T (p.Glu32039Val)
c.77732A>T (p.Glu25911Val)
c.99227A>T (p.Glu33076Val)
c.99224A>T (p.Glu33075Val)
c.98657A>T (p.Glu32886Val)
c.95999A>T (p.Glu32000Val)
c.95918A>T (p.Glu31973Val)
c.77681A>T (p.Glu25894Val)
c.67535A>T (p.Glu22512Val)
2g.178531829T>CCA349410927TTN,TTN-AS1c.97082A>G (p.Glu32361Gly)
c.78167A>G (p.Glu26056Gly)
c.77966A>G (p.Glu25989Gly)
c.77591A>G (p.Glu25864Gly)
c.104786A>G (p.Glu34929Gly)
c.99863A>G (p.Glu33288Gly)
n.446+8193T>C
n.220-3903T>C
c.103883A>G (p.Glu34628Gly)
c.77777A>G (p.Glu25926Gly)
c.77636A>G (p.Glu25879Gly)
c.103679A>G (p.Glu34560Gly)
c.99077A>G (p.Glu33026Gly)
c.99074A>G (p.Glu33025Gly)
c.96116A>G (p.Glu32039Gly)
c.77732A>G (p.Glu25911Gly)
c.99227A>G (p.Glu33076Gly)
c.99224A>G (p.Glu33075Gly)
c.98657A>G (p.Glu32886Gly)
c.95999A>G (p.Glu32000Gly)
c.95918A>G (p.Glu31973Gly)
c.77681A>G (p.Glu25894Gly)
c.67535A>G (p.Glu22512Gly)
2g.178531829T>GCA1985360TTN,TTN-AS1c.97082A>C (p.Glu32361Ala)
c.78167A>C (p.Glu26056Ala)
c.77966A>C (p.Glu25989Ala)
c.77591A>C (p.Glu25864Ala)
c.104786A>C (p.Glu34929Ala)
c.99863A>C (p.Glu33288Ala)
n.446+8193T>G
n.220-3903T>G
c.103883A>C (p.Glu34628Ala)
c.77777A>C (p.Glu25926Ala)
c.77636A>C (p.Glu25879Ala)
c.103679A>C (p.Glu34560Ala)
c.99077A>C (p.Glu33026Ala)
c.99074A>C (p.Glu33025Ala)
c.96116A>C (p.Glu32039Ala)
c.77732A>C (p.Glu25911Ala)
c.99227A>C (p.Glu33076Ala)
c.99224A>C (p.Glu33075Ala)
c.98657A>C (p.Glu32886Ala)
c.95999A>C (p.Glu32000Ala)
c.95918A>C (p.Glu31973Ala)
c.77681A>C (p.Glu25894Ala)
c.67535A>C (p.Glu22512Ala)
 dbSNP ExAC
2g.178531829T=CA1310517940TTN,TTN-AS1c.97082A= (p.Glu32361=)
c.78167A= (p.Glu26056=)
c.77966A= (p.Glu25989=)
c.77591A= (p.Glu25864=)
c.104786A= (p.Glu34929=)
c.99863A= (p.Glu33288=)
n.446+8193T=
n.220-3903T=
c.103883A= (p.Glu34628=)
c.77777A= (p.Glu25926=)
c.77636A= (p.Glu25879=)
c.103679A= (p.Glu34560=)
c.99077A= (p.Glu33026=)
c.99074A= (p.Glu33025=)
c.96116A= (p.Glu32039=)
c.77732A= (p.Glu25911=)
c.99227A= (p.Glu33076=)
c.99224A= (p.Glu33075=)
c.98657A= (p.Glu32886=)
c.95999A= (p.Glu32000=)
c.95918A= (p.Glu31973=)
c.77681A= (p.Glu25894=)
c.67535A= (p.Glu22512=)
2g.178531830C>ACA349410928TTN,TTN-AS1c.97081G>T (p.Glu32361Ter)
c.78166G>T (p.Glu26056Ter)
c.77965G>T (p.Glu25989Ter)
c.77590G>T (p.Glu25864Ter)
c.104785G>T (p.Glu34929Ter)
c.99862G>T (p.Glu33288Ter)
n.446+8194C>A
n.220-3902C>A
c.103882G>T (p.Glu34628Ter)
c.77776G>T (p.Glu25926Ter)
c.77635G>T (p.Glu25879Ter)
c.103678G>T (p.Glu34560Ter)
c.99076G>T (p.Glu33026Ter)
c.99073G>T (p.Glu33025Ter)
c.96115G>T (p.Glu32039Ter)
c.77731G>T (p.Glu25911Ter)
c.99226G>T (p.Glu33076Ter)
c.99223G>T (p.Glu33075Ter)
c.98656G>T (p.Glu32886Ter)
c.95998G>T (p.Glu32000Ter)
c.95917G>T (p.Glu31973Ter)
c.77680G>T (p.Glu25894Ter)
c.67534G>T (p.Glu22512Ter)
2g.178531830C=CA1310517941TTN,TTN-AS1c.97081G= (p.Glu32361=)
c.78166G= (p.Glu26056=)
c.77965G= (p.Glu25989=)
c.77590G= (p.Glu25864=)
c.104785G= (p.Glu34929=)
c.99862G= (p.Glu33288=)
n.446+8194C=
n.220-3902C=
c.103882G= (p.Glu34628=)
c.77776G= (p.Glu25926=)
c.77635G= (p.Glu25879=)
c.103678G= (p.Glu34560=)
c.99076G= (p.Glu33026=)
c.99073G= (p.Glu33025=)
c.96115G= (p.Glu32039=)
c.77731G= (p.Glu25911=)
c.99226G= (p.Glu33076=)
c.99223G= (p.Glu33075=)
c.98656G= (p.Glu32886=)
c.95998G= (p.Glu32000=)
c.95917G= (p.Glu31973=)
c.77680G= (p.Glu25894=)
c.67534G= (p.Glu22512=)
2g.178531830C>GCA349410929TTN,TTN-AS1c.97081G>C (p.Glu32361Gln)
c.78166G>C (p.Glu26056Gln)
c.77965G>C (p.Glu25989Gln)
c.77590G>C (p.Glu25864Gln)
c.104785G>C (p.Glu34929Gln)
c.99862G>C (p.Glu33288Gln)
n.446+8194C>G
n.220-3902C>G
c.103882G>C (p.Glu34628Gln)
c.77776G>C (p.Glu25926Gln)
c.77635G>C (p.Glu25879Gln)
c.103678G>C (p.Glu34560Gln)
c.99076G>C (p.Glu33026Gln)
c.99073G>C (p.Glu33025Gln)
c.96115G>C (p.Glu32039Gln)
c.77731G>C (p.Glu25911Gln)
c.99226G>C (p.Glu33076Gln)
c.99223G>C (p.Glu33075Gln)
c.98656G>C (p.Glu32886Gln)
c.95998G>C (p.Glu32000Gln)
c.95917G>C (p.Glu31973Gln)
c.77680G>C (p.Glu25894Gln)
c.67534G>C (p.Glu22512Gln)
 dbSNP
2g.178531830C>TCA349410930TTN,TTN-AS1c.97081G>A (p.Glu32361Lys)
c.78166G>A (p.Glu26056Lys)
c.77965G>A (p.Glu25989Lys)
c.77590G>A (p.Glu25864Lys)
c.104785G>A (p.Glu34929Lys)
c.99862G>A (p.Glu33288Lys)
n.446+8194C>T
n.220-3902C>T
c.103882G>A (p.Glu34628Lys)
c.77776G>A (p.Glu25926Lys)
c.77635G>A (p.Glu25879Lys)
c.103678G>A (p.Glu34560Lys)
c.99076G>A (p.Glu33026Lys)
c.99073G>A (p.Glu33025Lys)
c.96115G>A (p.Glu32039Lys)
c.77731G>A (p.Glu25911Lys)
c.99226G>A (p.Glu33076Lys)
c.99223G>A (p.Glu33075Lys)
c.98656G>A (p.Glu32886Lys)
c.95998G>A (p.Glu32000Lys)
c.95917G>A (p.Glu31973Lys)
c.77680G>A (p.Glu25894Lys)
c.67534G>A (p.Glu22512Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.178531831A=CA1310517942TTN,TTN-AS1c.97080T= (p.Tyr32360=)
c.78165T= (p.Tyr26055=)
c.77964T= (p.Tyr25988=)
c.77589T= (p.Tyr25863=)
c.104784T= (p.Tyr34928=)
c.99861T= (p.Tyr33287=)
n.446+8195A=
n.220-3901A=
c.103881T= (p.Tyr34627=)
c.77775T= (p.Tyr25925=)
c.77634T= (p.Tyr25878=)
c.103677T= (p.Tyr34559=)
c.99075T= (p.Tyr33025=)
c.99072T= (p.Tyr33024=)
c.96114T= (p.Tyr32038=)
c.77730T= (p.Tyr25910=)
c.99225T= (p.Tyr33075=)
c.99222T= (p.Tyr33074=)
c.98655T= (p.Tyr32885=)
c.95997T= (p.Tyr31999=)
c.95916T= (p.Tyr31972=)
c.77679T= (p.Tyr25893=)
c.67533T= (p.Tyr22511=)
2g.178531831A>CCA349410932TTN,TTN-AS1c.97080T>G (p.Tyr32360Ter)
c.78165T>G (p.Tyr26055Ter)
c.77964T>G (p.Tyr25988Ter)
c.77589T>G (p.Tyr25863Ter)
c.104784T>G (p.Tyr34928Ter)
c.99861T>G (p.Tyr33287Ter)
n.446+8195A>C
n.220-3901A>C
c.103881T>G (p.Tyr34627Ter)
c.77775T>G (p.Tyr25925Ter)
c.77634T>G (p.Tyr25878Ter)
c.103677T>G (p.Tyr34559Ter)
c.99075T>G (p.Tyr33025Ter)
c.99072T>G (p.Tyr33024Ter)
c.96114T>G (p.Tyr32038Ter)
c.77730T>G (p.Tyr25910Ter)
c.99225T>G (p.Tyr33075Ter)
c.99222T>G (p.Tyr33074Ter)
c.98655T>G (p.Tyr32885Ter)
c.95997T>G (p.Tyr31999Ter)
c.95916T>G (p.Tyr31972Ter)
c.77679T>G (p.Tyr25893Ter)
c.67533T>G (p.Tyr22511Ter)
2g.178531831A>GCA1985361TTN,TTN-AS1c.97080T>C (p.Tyr32360=)
c.78165T>C (p.Tyr26055=)
c.77964T>C (p.Tyr25988=)
c.77589T>C (p.Tyr25863=)
c.104784T>C (p.Tyr34928=)
c.99861T>C (p.Tyr33287=)
n.446+8195A>G
n.220-3901A>G
c.103881T>C (p.Tyr34627=)
c.77775T>C (p.Tyr25925=)
c.77634T>C (p.Tyr25878=)
c.103677T>C (p.Tyr34559=)
c.99075T>C (p.Tyr33025=)
c.99072T>C (p.Tyr33024=)
c.96114T>C (p.Tyr32038=)
c.77730T>C (p.Tyr25910=)
c.99225T>C (p.Tyr33075=)
c.99222T>C (p.Tyr33074=)
c.98655T>C (p.Tyr32885=)
c.95997T>C (p.Tyr31999=)
c.95916T>C (p.Tyr31972=)
c.77679T>C (p.Tyr25893=)
c.67533T>C (p.Tyr22511=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531831A>TCA349410931TTN,TTN-AS1c.97080T>A (p.Tyr32360Ter)
c.78165T>A (p.Tyr26055Ter)
c.77964T>A (p.Tyr25988Ter)
c.77589T>A (p.Tyr25863Ter)
c.104784T>A (p.Tyr34928Ter)
c.99861T>A (p.Tyr33287Ter)
n.446+8195A>T
n.220-3901A>T
c.103881T>A (p.Tyr34627Ter)
c.77775T>A (p.Tyr25925Ter)
c.77634T>A (p.Tyr25878Ter)
c.103677T>A (p.Tyr34559Ter)
c.99075T>A (p.Tyr33025Ter)
c.99072T>A (p.Tyr33024Ter)
c.96114T>A (p.Tyr32038Ter)
c.77730T>A (p.Tyr25910Ter)
c.99225T>A (p.Tyr33075Ter)
c.99222T>A (p.Tyr33074Ter)
c.98655T>A (p.Tyr32885Ter)
c.95997T>A (p.Tyr31999Ter)
c.95916T>A (p.Tyr31972Ter)
c.77679T>A (p.Tyr25893Ter)
c.67533T>A (p.Tyr22511Ter)
2g.178531832T>ACA349410933TTN,TTN-AS1c.97079A>T (p.Tyr32360Phe)
c.78164A>T (p.Tyr26055Phe)
c.77963A>T (p.Tyr25988Phe)
c.77588A>T (p.Tyr25863Phe)
c.104783A>T (p.Tyr34928Phe)
c.99860A>T (p.Tyr33287Phe)
n.446+8196T>A
n.220-3900T>A
c.103880A>T (p.Tyr34627Phe)
c.77774A>T (p.Tyr25925Phe)
c.77633A>T (p.Tyr25878Phe)
c.103676A>T (p.Tyr34559Phe)
c.99074A>T (p.Tyr33025Phe)
c.99071A>T (p.Tyr33024Phe)
c.96113A>T (p.Tyr32038Phe)
c.77729A>T (p.Tyr25910Phe)
c.99224A>T (p.Tyr33075Phe)
c.99221A>T (p.Tyr33074Phe)
c.98654A>T (p.Tyr32885Phe)
c.95996A>T (p.Tyr31999Phe)
c.95915A>T (p.Tyr31972Phe)
c.77678A>T (p.Tyr25893Phe)
c.67532A>T (p.Tyr22511Phe)
 COSMIC COSMIC COSMIC
2g.178531832T>CCA349410934TTN,TTN-AS1c.97079A>G (p.Tyr32360Cys)
c.78164A>G (p.Tyr26055Cys)
c.77963A>G (p.Tyr25988Cys)
c.77588A>G (p.Tyr25863Cys)
c.104783A>G (p.Tyr34928Cys)
c.99860A>G (p.Tyr33287Cys)
n.446+8196T>C
n.220-3900T>C
c.103880A>G (p.Tyr34627Cys)
c.77774A>G (p.Tyr25925Cys)
c.77633A>G (p.Tyr25878Cys)
c.103676A>G (p.Tyr34559Cys)
c.99074A>G (p.Tyr33025Cys)
c.99071A>G (p.Tyr33024Cys)
c.96113A>G (p.Tyr32038Cys)
c.77729A>G (p.Tyr25910Cys)
c.99224A>G (p.Tyr33075Cys)
c.99221A>G (p.Tyr33074Cys)
c.98654A>G (p.Tyr32885Cys)
c.95996A>G (p.Tyr31999Cys)
c.95915A>G (p.Tyr31972Cys)
c.77678A>G (p.Tyr25893Cys)
c.67532A>G (p.Tyr22511Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178531832T>GCA349410935TTN,TTN-AS1c.97079A>C (p.Tyr32360Ser)
c.78164A>C (p.Tyr26055Ser)
c.77963A>C (p.Tyr25988Ser)
c.77588A>C (p.Tyr25863Ser)
c.104783A>C (p.Tyr34928Ser)
c.99860A>C (p.Tyr33287Ser)
n.446+8196T>G
n.220-3900T>G
c.103880A>C (p.Tyr34627Ser)
c.77774A>C (p.Tyr25925Ser)
c.77633A>C (p.Tyr25878Ser)
c.103676A>C (p.Tyr34559Ser)
c.99074A>C (p.Tyr33025Ser)
c.99071A>C (p.Tyr33024Ser)
c.96113A>C (p.Tyr32038Ser)
c.77729A>C (p.Tyr25910Ser)
c.99224A>C (p.Tyr33075Ser)
c.99221A>C (p.Tyr33074Ser)
c.98654A>C (p.Tyr32885Ser)
c.95996A>C (p.Tyr31999Ser)
c.95915A>C (p.Tyr31972Ser)
c.77678A>C (p.Tyr25893Ser)
c.67532A>C (p.Tyr22511Ser)
2g.178531832T=CA1310517943TTN,TTN-AS1c.97079A= (p.Tyr32360=)
c.78164A= (p.Tyr26055=)
c.77963A= (p.Tyr25988=)
c.77588A= (p.Tyr25863=)
c.104783A= (p.Tyr34928=)
c.99860A= (p.Tyr33287=)
n.446+8196T=
n.220-3900T=
c.103880A= (p.Tyr34627=)
c.77774A= (p.Tyr25925=)
c.77633A= (p.Tyr25878=)
c.103676A= (p.Tyr34559=)
c.99074A= (p.Tyr33025=)
c.99071A= (p.Tyr33024=)
c.96113A= (p.Tyr32038=)
c.77729A= (p.Tyr25910=)
c.99224A= (p.Tyr33075=)
c.99221A= (p.Tyr33074=)
c.98654A= (p.Tyr32885=)
c.95996A= (p.Tyr31999=)
c.95915A= (p.Tyr31972=)
c.77678A= (p.Tyr25893=)
c.67532A= (p.Tyr22511=)
2g.178531832dupCA2577170190TTN,TTN-AS1c.97079dup (p.Tyr32360Ter)
c.78164dup (p.Tyr26055Ter)
c.77963dup (p.Tyr25988Ter)
c.77588dup (p.Tyr25863Ter)
c.104783dup (p.Tyr34928Ter)
c.99860dup (p.Tyr33287Ter)
n.446+8196dup
n.220-3900dup
c.103880dup (p.Tyr34627Ter)
c.77774dup (p.Tyr25925Ter)
c.77633dup (p.Tyr25878Ter)
c.103676dup (p.Tyr34559Ter)
c.99074dup (p.Tyr33025Ter)
c.99071dup (p.Tyr33024Ter)
c.96113dup (p.Tyr32038Ter)
c.77729dup (p.Tyr25910Ter)
c.99224dup (p.Tyr33075Ter)
c.99221dup (p.Tyr33074Ter)
c.98654dup (p.Tyr32885Ter)
c.95996dup (p.Tyr31999Ter)
c.95915dup (p.Tyr31972Ter)
c.77678dup (p.Tyr25893Ter)
c.67532dup (p.Tyr22511Ter)
2g.178531833A>CCA349410936TTN,TTN-AS1c.97078T>G (p.Tyr32360Asp)
c.78163T>G (p.Tyr26055Asp)
c.77962T>G (p.Tyr25988Asp)
c.77587T>G (p.Tyr25863Asp)
c.104782T>G (p.Tyr34928Asp)
c.99859T>G (p.Tyr33287Asp)
n.446+8197A>C
n.220-3899A>C
c.103879T>G (p.Tyr34627Asp)
c.77773T>G (p.Tyr25925Asp)
c.77632T>G (p.Tyr25878Asp)
c.103675T>G (p.Tyr34559Asp)
c.99073T>G (p.Tyr33025Asp)
c.99070T>G (p.Tyr33024Asp)
c.96112T>G (p.Tyr32038Asp)
c.77728T>G (p.Tyr25910Asp)
c.99223T>G (p.Tyr33075Asp)
c.99220T>G (p.Tyr33074Asp)
c.98653T>G (p.Tyr32885Asp)
c.95995T>G (p.Tyr31999Asp)
c.95914T>G (p.Tyr31972Asp)
c.77677T>G (p.Tyr25893Asp)
c.67531T>G (p.Tyr22511Asp)
2g.178531833A>GCA349410937TTN,TTN-AS1c.97078T>C (p.Tyr32360His)
c.78163T>C (p.Tyr26055His)
c.77962T>C (p.Tyr25988His)
c.77587T>C (p.Tyr25863His)
c.104782T>C (p.Tyr34928His)
c.99859T>C (p.Tyr33287His)
n.446+8197A>G
n.220-3899A>G
c.103879T>C (p.Tyr34627His)
c.77773T>C (p.Tyr25925His)
c.77632T>C (p.Tyr25878His)
c.103675T>C (p.Tyr34559His)
c.99073T>C (p.Tyr33025His)
c.99070T>C (p.Tyr33024His)
c.96112T>C (p.Tyr32038His)
c.77728T>C (p.Tyr25910His)
c.99223T>C (p.Tyr33075His)
c.99220T>C (p.Tyr33074His)
c.98653T>C (p.Tyr32885His)
c.95995T>C (p.Tyr31999His)
c.95914T>C (p.Tyr31972His)
c.77677T>C (p.Tyr25893His)
c.67531T>C (p.Tyr22511His)
2g.178531833A>TCA349410938TTN,TTN-AS1c.97078T>A (p.Tyr32360Asn)
c.78163T>A (p.Tyr26055Asn)
c.77962T>A (p.Tyr25988Asn)
c.77587T>A (p.Tyr25863Asn)
c.104782T>A (p.Tyr34928Asn)
c.99859T>A (p.Tyr33287Asn)
n.446+8197A>T
n.220-3899A>T
c.103879T>A (p.Tyr34627Asn)
c.77773T>A (p.Tyr25925Asn)
c.77632T>A (p.Tyr25878Asn)
c.103675T>A (p.Tyr34559Asn)
c.99073T>A (p.Tyr33025Asn)
c.99070T>A (p.Tyr33024Asn)
c.96112T>A (p.Tyr32038Asn)
c.77728T>A (p.Tyr25910Asn)
c.99223T>A (p.Tyr33075Asn)
c.99220T>A (p.Tyr33074Asn)
c.98653T>A (p.Tyr32885Asn)
c.95995T>A (p.Tyr31999Asn)
c.95914T>A (p.Tyr31972Asn)
c.77677T>A (p.Tyr25893Asn)
c.67531T>A (p.Tyr22511Asn)
2g.178531834C>ACA349410939TTN,TTN-AS1c.97077G>T (p.Lys32359Asn)
c.78162G>T (p.Lys26054Asn)
c.77961G>T (p.Lys25987Asn)
c.77586G>T (p.Lys25862Asn)
c.104781G>T (p.Lys34927Asn)
c.99858G>T (p.Lys33286Asn)
n.446+8198C>A
n.220-3898C>A
c.103878G>T (p.Lys34626Asn)
c.77772G>T (p.Lys25924Asn)
c.77631G>T (p.Lys25877Asn)
c.103674G>T (p.Lys34558Asn)
c.99072G>T (p.Lys33024Asn)
c.99069G>T (p.Lys33023Asn)
c.96111G>T (p.Lys32037Asn)
c.77727G>T (p.Lys25909Asn)
c.99222G>T (p.Lys33074Asn)
c.99219G>T (p.Lys33073Asn)
c.98652G>T (p.Lys32884Asn)
c.95994G>T (p.Lys31998Asn)
c.95913G>T (p.Lys31971Asn)
c.77676G>T (p.Lys25892Asn)
c.67530G>T (p.Lys22510Asn)
2g.178531834C=CA1310517944TTN,TTN-AS1c.97077G= (p.Lys32359=)
c.78162G= (p.Lys26054=)
c.77961G= (p.Lys25987=)
c.77586G= (p.Lys25862=)
c.104781G= (p.Lys34927=)
c.99858G= (p.Lys33286=)
n.446+8198C=
n.220-3898C=
c.103878G= (p.Lys34626=)
c.77772G= (p.Lys25924=)
c.77631G= (p.Lys25877=)
c.103674G= (p.Lys34558=)
c.99072G= (p.Lys33024=)
c.99069G= (p.Lys33023=)
c.96111G= (p.Lys32037=)
c.77727G= (p.Lys25909=)
c.99222G= (p.Lys33074=)
c.99219G= (p.Lys33073=)
c.98652G= (p.Lys32884=)
c.95994G= (p.Lys31998=)
c.95913G= (p.Lys31971=)
c.77676G= (p.Lys25892=)
c.67530G= (p.Lys22510=)
2g.178531834C>GCA1985362TTN,TTN-AS1c.97077G>C (p.Lys32359Asn)
c.78162G>C (p.Lys26054Asn)
c.77961G>C (p.Lys25987Asn)
c.77586G>C (p.Lys25862Asn)
c.104781G>C (p.Lys34927Asn)
c.99858G>C (p.Lys33286Asn)
n.446+8198C>G
n.220-3898C>G
c.103878G>C (p.Lys34626Asn)
c.77772G>C (p.Lys25924Asn)
c.77631G>C (p.Lys25877Asn)
c.103674G>C (p.Lys34558Asn)
c.99072G>C (p.Lys33024Asn)
c.99069G>C (p.Lys33023Asn)
c.96111G>C (p.Lys32037Asn)
c.77727G>C (p.Lys25909Asn)
c.99222G>C (p.Lys33074Asn)
c.99219G>C (p.Lys33073Asn)
c.98652G>C (p.Lys32884Asn)
c.95994G>C (p.Lys31998Asn)
c.95913G>C (p.Lys31971Asn)
c.77676G>C (p.Lys25892Asn)
c.67530G>C (p.Lys22510Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178531834C>TCA430235451TTN,TTN-AS1c.97077G>A (p.Lys32359=)
c.78162G>A (p.Lys26054=)
c.77961G>A (p.Lys25987=)
c.77586G>A (p.Lys25862=)
c.104781G>A (p.Lys34927=)
c.99858G>A (p.Lys33286=)
n.446+8198C>T
n.220-3898C>T
c.103878G>A (p.Lys34626=)
c.77772G>A (p.Lys25924=)
c.77631G>A (p.Lys25877=)
c.103674G>A (p.Lys34558=)
c.99072G>A (p.Lys33024=)
c.99069G>A (p.Lys33023=)
c.96111G>A (p.Lys32037=)
c.77727G>A (p.Lys25909=)
c.99222G>A (p.Lys33074=)
c.99219G>A (p.Lys33073=)
c.98652G>A (p.Lys32884=)
c.95994G>A (p.Lys31998=)
c.95913G>A (p.Lys31971=)
c.77676G>A (p.Lys25892=)
c.67530G>A (p.Lys22510=)
2g.178531835T>ACA349410940TTN,TTN-AS1c.97076A>T (p.Lys32359Met)
c.78161A>T (p.Lys26054Met)
c.77960A>T (p.Lys25987Met)
c.77585A>T (p.Lys25862Met)
c.104780A>T (p.Lys34927Met)
c.99857A>T (p.Lys33286Met)
n.446+8199T>A
n.220-3897T>A
c.103877A>T (p.Lys34626Met)
c.77771A>T (p.Lys25924Met)
c.77630A>T (p.Lys25877Met)
c.103673A>T (p.Lys34558Met)
c.99071A>T (p.Lys33024Met)
c.99068A>T (p.Lys33023Met)
c.96110A>T (p.Lys32037Met)
c.77726A>T (p.Lys25909Met)
c.99221A>T (p.Lys33074Met)
c.99218A>T (p.Lys33073Met)
c.98651A>T (p.Lys32884Met)
c.95993A>T (p.Lys31998Met)
c.95912A>T (p.Lys31971Met)
c.77675A>T (p.Lys25892Met)
c.67529A>T (p.Lys22510Met)
2g.178531835T>CCA1985363TTN,TTN-AS1c.97076A>G (p.Lys32359Arg)
c.78161A>G (p.Lys26054Arg)
c.77960A>G (p.Lys25987Arg)
c.77585A>G (p.Lys25862Arg)
c.104780A>G (p.Lys34927Arg)
c.99857A>G (p.Lys33286Arg)
n.446+8199T>C
n.220-3897T>C
c.103877A>G (p.Lys34626Arg)
c.77771A>G (p.Lys25924Arg)
c.77630A>G (p.Lys25877Arg)
c.103673A>G (p.Lys34558Arg)
c.99071A>G (p.Lys33024Arg)
c.99068A>G (p.Lys33023Arg)
c.96110A>G (p.Lys32037Arg)
c.77726A>G (p.Lys25909Arg)
c.99221A>G (p.Lys33074Arg)
c.99218A>G (p.Lys33073Arg)
c.98651A>G (p.Lys32884Arg)
c.95993A>G (p.Lys31998Arg)
c.95912A>G (p.Lys31971Arg)
c.77675A>G (p.Lys25892Arg)
c.67529A>G (p.Lys22510Arg)
 dbSNP ExAC gnomAD v2
2g.178531835T>GCA349410941TTN,TTN-AS1c.97076A>C (p.Lys32359Thr)
c.78161A>C (p.Lys26054Thr)
c.77960A>C (p.Lys25987Thr)
c.77585A>C (p.Lys25862Thr)
c.104780A>C (p.Lys34927Thr)
c.99857A>C (p.Lys33286Thr)
n.446+8199T>G
n.220-3897T>G
c.103877A>C (p.Lys34626Thr)
c.77771A>C (p.Lys25924Thr)
c.77630A>C (p.Lys25877Thr)
c.103673A>C (p.Lys34558Thr)
c.99071A>C (p.Lys33024Thr)
c.99068A>C (p.Lys33023Thr)
c.96110A>C (p.Lys32037Thr)
c.77726A>C (p.Lys25909Thr)
c.99221A>C (p.Lys33074Thr)
c.99218A>C (p.Lys33073Thr)
c.98651A>C (p.Lys32884Thr)
c.95993A>C (p.Lys31998Thr)
c.95912A>C (p.Lys31971Thr)
c.77675A>C (p.Lys25892Thr)
c.67529A>C (p.Lys22510Thr)
2g.178531835T=CA1310517945TTN,TTN-AS1c.97076A= (p.Lys32359=)
c.78161A= (p.Lys26054=)
c.77960A= (p.Lys25987=)
c.77585A= (p.Lys25862=)
c.104780A= (p.Lys34927=)
c.99857A= (p.Lys33286=)
n.446+8199T=
n.220-3897T=
c.103877A= (p.Lys34626=)
c.77771A= (p.Lys25924=)
c.77630A= (p.Lys25877=)
c.103673A= (p.Lys34558=)
c.99071A= (p.Lys33024=)
c.99068A= (p.Lys33023=)
c.96110A= (p.Lys32037=)
c.77726A= (p.Lys25909=)
c.99221A= (p.Lys33074=)
c.99218A= (p.Lys33073=)
c.98651A= (p.Lys32884=)
c.95993A= (p.Lys31998=)
c.95912A= (p.Lys31971=)
c.77675A= (p.Lys25892=)
c.67529A= (p.Lys22510=)
2g.178531836T>ACA349410942TTN,TTN-AS1c.97075A>T (p.Lys32359Ter)
c.78160A>T (p.Lys26054Ter)
c.77959A>T (p.Lys25987Ter)
c.77584A>T (p.Lys25862Ter)
c.104779A>T (p.Lys34927Ter)
c.99856A>T (p.Lys33286Ter)
n.446+8200T>A
n.220-3896T>A
c.103876A>T (p.Lys34626Ter)
c.77770A>T (p.Lys25924Ter)
c.77629A>T (p.Lys25877Ter)
c.103672A>T (p.Lys34558Ter)
c.99070A>T (p.Lys33024Ter)
c.99067A>T (p.Lys33023Ter)
c.96109A>T (p.Lys32037Ter)
c.77725A>T (p.Lys25909Ter)
c.99220A>T (p.Lys33074Ter)
c.99217A>T (p.Lys33073Ter)
c.98650A>T (p.Lys32884Ter)
c.95992A>T (p.Lys31998Ter)
c.95911A>T (p.Lys31971Ter)
c.77674A>T (p.Lys25892Ter)
c.67528A>T (p.Lys22510Ter)
 ClinVar
2g.178531836T>CCA349410943TTN,TTN-AS1c.97075A>G (p.Lys32359Glu)
c.78160A>G (p.Lys26054Glu)
c.77959A>G (p.Lys25987Glu)
c.77584A>G (p.Lys25862Glu)
c.104779A>G (p.Lys34927Glu)
c.99856A>G (p.Lys33286Glu)
n.446+8200T>C
n.220-3896T>C
c.103876A>G (p.Lys34626Glu)
c.77770A>G (p.Lys25924Glu)
c.77629A>G (p.Lys25877Glu)
c.103672A>G (p.Lys34558Glu)
c.99070A>G (p.Lys33024Glu)
c.99067A>G (p.Lys33023Glu)
c.96109A>G (p.Lys32037Glu)
c.77725A>G (p.Lys25909Glu)
c.99220A>G (p.Lys33074Glu)
c.99217A>G (p.Lys33073Glu)
c.98650A>G (p.Lys32884Glu)
c.95992A>G (p.Lys31998Glu)
c.95911A>G (p.Lys31971Glu)
c.77674A>G (p.Lys25892Glu)
c.67528A>G (p.Lys22510Glu)
2g.178531836T>GCA349410944TTN,TTN-AS1c.97075A>C (p.Lys32359Gln)
c.78160A>C (p.Lys26054Gln)
c.77959A>C (p.Lys25987Gln)
c.77584A>C (p.Lys25862Gln)
c.104779A>C (p.Lys34927Gln)
c.99856A>C (p.Lys33286Gln)
n.446+8200T>G
n.220-3896T>G
c.103876A>C (p.Lys34626Gln)
c.77770A>C (p.Lys25924Gln)
c.77629A>C (p.Lys25877Gln)
c.103672A>C (p.Lys34558Gln)
c.99070A>C (p.Lys33024Gln)
c.99067A>C (p.Lys33023Gln)
c.96109A>C (p.Lys32037Gln)
c.77725A>C (p.Lys25909Gln)
c.99220A>C (p.Lys33074Gln)
c.99217A>C (p.Lys33073Gln)
c.98650A>C (p.Lys32884Gln)
c.95992A>C (p.Lys31998Gln)
c.95911A>C (p.Lys31971Gln)
c.77674A>C (p.Lys25892Gln)
c.67528A>C (p.Lys22510Gln)
2g.178531837C>ACA349410945TTN,TTN-AS1c.97074G>T (p.Arg32358Ser)
c.78159G>T (p.Arg26053Ser)
c.77958G>T (p.Arg25986Ser)
c.77583G>T (p.Arg25861Ser)
c.104778G>T (p.Arg34926Ser)
c.99855G>T (p.Arg33285Ser)
n.446+8201C>A
n.220-3895C>A
c.103875G>T (p.Arg34625Ser)
c.77769G>T (p.Arg25923Ser)
c.77628G>T (p.Arg25876Ser)
c.103671G>T (p.Arg34557Ser)
c.99069G>T (p.Arg33023Ser)
c.99066G>T (p.Arg33022Ser)
c.96108G>T (p.Arg32036Ser)
c.77724G>T (p.Arg25908Ser)
c.99219G>T (p.Arg33073Ser)
c.99216G>T (p.Arg33072Ser)
c.98649G>T (p.Arg32883Ser)
c.95991G>T (p.Arg31997Ser)
c.95910G>T (p.Arg31970Ser)
c.77673G>T (p.Arg25891Ser)
c.67527G>T (p.Arg22509Ser)
2g.178531837C>GCA349410946TTN,TTN-AS1c.97074G>C (p.Arg32358Ser)
c.78159G>C (p.Arg26053Ser)
c.77958G>C (p.Arg25986Ser)
c.77583G>C (p.Arg25861Ser)
c.104778G>C (p.Arg34926Ser)
c.99855G>C (p.Arg33285Ser)
n.446+8201C>G
n.220-3895C>G
c.103875G>C (p.Arg34625Ser)
c.77769G>C (p.Arg25923Ser)
c.77628G>C (p.Arg25876Ser)
c.103671G>C (p.Arg34557Ser)
c.99069G>C (p.Arg33023Ser)
c.99066G>C (p.Arg33022Ser)
c.96108G>C (p.Arg32036Ser)
c.77724G>C (p.Arg25908Ser)
c.99219G>C (p.Arg33073Ser)
c.99216G>C (p.Arg33072Ser)
c.98649G>C (p.Arg32883Ser)
c.95991G>C (p.Arg31997Ser)
c.95910G>C (p.Arg31970Ser)
c.77673G>C (p.Arg25891Ser)
c.67527G>C (p.Arg22509Ser)
2g.178531837C>TCA430235461TTN,TTN-AS1c.97074G>A (p.Arg32358=)
c.78159G>A (p.Arg26053=)
c.77958G>A (p.Arg25986=)
c.77583G>A (p.Arg25861=)
c.104778G>A (p.Arg34926=)
c.99855G>A (p.Arg33285=)
n.446+8201C>T
n.220-3895C>T
c.103875G>A (p.Arg34625=)
c.77769G>A (p.Arg25923=)
c.77628G>A (p.Arg25876=)
c.103671G>A (p.Arg34557=)
c.99069G>A (p.Arg33023=)
c.99066G>A (p.Arg33022=)
c.96108G>A (p.Arg32036=)
c.77724G>A (p.Arg25908=)
c.99219G>A (p.Arg33073=)
c.99216G>A (p.Arg33072=)
c.98649G>A (p.Arg32883=)
c.95991G>A (p.Arg31997=)
c.95910G>A (p.Arg31970=)
c.77673G>A (p.Arg25891=)
c.67527G>A (p.Arg22509=)
2g.178531838C>ACA349410947TTN,TTN-AS1c.97073G>T (p.Arg32358Met)
c.78158G>T (p.Arg26053Met)
c.77957G>T (p.Arg25986Met)
c.77582G>T (p.Arg25861Met)
c.104777G>T (p.Arg34926Met)
c.99854G>T (p.Arg33285Met)
n.446+8202C>A
n.220-3894C>A
c.103874G>T (p.Arg34625Met)
c.77768G>T (p.Arg25923Met)
c.77627G>T (p.Arg25876Met)
c.103670G>T (p.Arg34557Met)
c.99068G>T (p.Arg33023Met)
c.99065G>T (p.Arg33022Met)
c.96107G>T (p.Arg32036Met)
c.77723G>T (p.Arg25908Met)
c.99218G>T (p.Arg33073Met)
c.99215G>T (p.Arg33072Met)
c.98648G>T (p.Arg32883Met)
c.95990G>T (p.Arg31997Met)
c.95909G>T (p.Arg31970Met)
c.77672G>T (p.Arg25891Met)
c.67526G>T (p.Arg22509Met)
2g.178531838C>GCA349410948TTN,TTN-AS1c.97073G>C (p.Arg32358Thr)
c.78158G>C (p.Arg26053Thr)
c.77957G>C (p.Arg25986Thr)
c.77582G>C (p.Arg25861Thr)
c.104777G>C (p.Arg34926Thr)
c.99854G>C (p.Arg33285Thr)
n.446+8202C>G
n.220-3894C>G
c.103874G>C (p.Arg34625Thr)
c.77768G>C (p.Arg25923Thr)
c.77627G>C (p.Arg25876Thr)
c.103670G>C (p.Arg34557Thr)
c.99068G>C (p.Arg33023Thr)
c.99065G>C (p.Arg33022Thr)
c.96107G>C (p.Arg32036Thr)
c.77723G>C (p.Arg25908Thr)
c.99218G>C (p.Arg33073Thr)
c.99215G>C (p.Arg33072Thr)
c.98648G>C (p.Arg32883Thr)
c.95990G>C (p.Arg31997Thr)
c.95909G>C (p.Arg31970Thr)
c.77672G>C (p.Arg25891Thr)
c.67526G>C (p.Arg22509Thr)
2g.178531838C>TCA349410949TTN,TTN-AS1c.97073G>A (p.Arg32358Lys)
c.78158G>A (p.Arg26053Lys)
c.77957G>A (p.Arg25986Lys)
c.77582G>A (p.Arg25861Lys)
c.104777G>A (p.Arg34926Lys)
c.99854G>A (p.Arg33285Lys)
n.446+8202C>T
n.220-3894C>T
c.103874G>A (p.Arg34625Lys)
c.77768G>A (p.Arg25923Lys)
c.77627G>A (p.Arg25876Lys)
c.103670G>A (p.Arg34557Lys)
c.99068G>A (p.Arg33023Lys)
c.99065G>A (p.Arg33022Lys)
c.96107G>A (p.Arg32036Lys)
c.77723G>A (p.Arg25908Lys)
c.99218G>A (p.Arg33073Lys)
c.99215G>A (p.Arg33072Lys)
c.98648G>A (p.Arg32883Lys)
c.95990G>A (p.Arg31997Lys)
c.95909G>A (p.Arg31970Lys)
c.77672G>A (p.Arg25891Lys)
c.67526G>A (p.Arg22509Lys)
2g.178531839T>ACA349410950TTN,TTN-AS1c.97072A>T (p.Arg32358Trp)
c.78157A>T (p.Arg26053Trp)
c.77956A>T (p.Arg25986Trp)
c.77581A>T (p.Arg25861Trp)
c.104776A>T (p.Arg34926Trp)
c.99853A>T (p.Arg33285Trp)
n.446+8203T>A
n.220-3893T>A
c.103873A>T (p.Arg34625Trp)
c.77767A>T (p.Arg25923Trp)
c.77626A>T (p.Arg25876Trp)
c.103669A>T (p.Arg34557Trp)
c.99067A>T (p.Arg33023Trp)
c.99064A>T (p.Arg33022Trp)
c.96106A>T (p.Arg32036Trp)
c.77722A>T (p.Arg25908Trp)
c.99217A>T (p.Arg33073Trp)
c.99214A>T (p.Arg33072Trp)
c.98647A>T (p.Arg32883Trp)
c.95989A>T (p.Arg31997Trp)
c.95908A>T (p.Arg31970Trp)
c.77671A>T (p.Arg25891Trp)
c.67525A>T (p.Arg22509Trp)
 ClinVar
2g.178531839T>CCA349410951TTN,TTN-AS1c.97072A>G (p.Arg32358Gly)
c.78157A>G (p.Arg26053Gly)
c.77956A>G (p.Arg25986Gly)
c.77581A>G (p.Arg25861Gly)
c.104776A>G (p.Arg34926Gly)
c.99853A>G (p.Arg33285Gly)
n.446+8203T>C
n.220-3893T>C
c.103873A>G (p.Arg34625Gly)
c.77767A>G (p.Arg25923Gly)
c.77626A>G (p.Arg25876Gly)
c.103669A>G (p.Arg34557Gly)
c.99067A>G (p.Arg33023Gly)
c.99064A>G (p.Arg33022Gly)
c.96106A>G (p.Arg32036Gly)
c.77722A>G (p.Arg25908Gly)
c.99217A>G (p.Arg33073Gly)
c.99214A>G (p.Arg33072Gly)
c.98647A>G (p.Arg32883Gly)
c.95989A>G (p.Arg31997Gly)
c.95908A>G (p.Arg31970Gly)
c.77671A>G (p.Arg25891Gly)
c.67525A>G (p.Arg22509Gly)
 ClinVar
2g.178531839T>GCA430235462TTN,TTN-AS1c.97072A>C (p.Arg32358=)
c.78157A>C (p.Arg26053=)
c.77956A>C (p.Arg25986=)
c.77581A>C (p.Arg25861=)
c.104776A>C (p.Arg34926=)
c.99853A>C (p.Arg33285=)
n.446+8203T>G
n.220-3893T>G
c.103873A>C (p.Arg34625=)
c.77767A>C (p.Arg25923=)
c.77626A>C (p.Arg25876=)
c.103669A>C (p.Arg34557=)
c.99067A>C (p.Arg33023=)
c.99064A>C (p.Arg33022=)
c.96106A>C (p.Arg32036=)
c.77722A>C (p.Arg25908=)
c.99217A>C (p.Arg33073=)
c.99214A>C (p.Arg33072=)
c.98647A>C (p.Arg32883=)
c.95989A>C (p.Arg31997=)
c.95908A>C (p.Arg31970=)
c.77671A>C (p.Arg25891=)
c.67525A>C (p.Arg22509=)
2g.178531840T>ACA349410952TTN,TTN-AS1c.97071A>T (p.Glu32357Asp)
c.78156A>T (p.Glu26052Asp)
c.77955A>T (p.Glu25985Asp)
c.77580A>T (p.Glu25860Asp)
c.104775A>T (p.Glu34925Asp)
c.99852A>T (p.Glu33284Asp)
n.446+8204T>A
n.220-3892T>A
c.103872A>T (p.Glu34624Asp)
c.77766A>T (p.Glu25922Asp)
c.77625A>T (p.Glu25875Asp)
c.103668A>T (p.Glu34556Asp)
c.99066A>T (p.Glu33022Asp)
c.99063A>T (p.Glu33021Asp)
c.96105A>T (p.Glu32035Asp)
c.77721A>T (p.Glu25907Asp)
c.99216A>T (p.Glu33072Asp)
c.99213A>T (p.Glu33071Asp)
c.98646A>T (p.Glu32882Asp)
c.95988A>T (p.Glu31996Asp)
c.95907A>T (p.Glu31969Asp)
c.77670A>T (p.Glu25890Asp)
c.67524A>T (p.Glu22508Asp)
2g.178531840T>CCA430235465TTN,TTN-AS1c.97071A>G (p.Glu32357=)
c.78156A>G (p.Glu26052=)
c.77955A>G (p.Glu25985=)
c.77580A>G (p.Glu25860=)
c.104775A>G (p.Glu34925=)
c.99852A>G (p.Glu33284=)
n.446+8204T>C
n.220-3892T>C
c.103872A>G (p.Glu34624=)
c.77766A>G (p.Glu25922=)
c.77625A>G (p.Glu25875=)
c.103668A>G (p.Glu34556=)
c.99066A>G (p.Glu33022=)
c.99063A>G (p.Glu33021=)
c.96105A>G (p.Glu32035=)
c.77721A>G (p.Glu25907=)
c.99216A>G (p.Glu33072=)
c.99213A>G (p.Glu33071=)
c.98646A>G (p.Glu32882=)
c.95988A>G (p.Glu31996=)
c.95907A>G (p.Glu31969=)
c.77670A>G (p.Glu25890=)
c.67524A>G (p.Glu22508=)
2g.178531840T>GCA1985364TTN,TTN-AS1c.97071A>C (p.Glu32357Asp)
c.78156A>C (p.Glu26052Asp)
c.77955A>C (p.Glu25985Asp)
c.77580A>C (p.Glu25860Asp)
c.104775A>C (p.Glu34925Asp)
c.99852A>C (p.Glu33284Asp)
n.446+8204T>G
n.220-3892T>G
c.103872A>C (p.Glu34624Asp)
c.77766A>C (p.Glu25922Asp)
c.77625A>C (p.Glu25875Asp)
c.103668A>C (p.Glu34556Asp)
c.99066A>C (p.Glu33022Asp)
c.99063A>C (p.Glu33021Asp)
c.96105A>C (p.Glu32035Asp)
c.77721A>C (p.Glu25907Asp)
c.99216A>C (p.Glu33072Asp)
c.99213A>C (p.Glu33071Asp)
c.98646A>C (p.Glu32882Asp)
c.95988A>C (p.Glu31996Asp)
c.95907A>C (p.Glu31969Asp)
c.77670A>C (p.Glu25890Asp)
c.67524A>C (p.Glu22508Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178531840T=CA1310517946TTN,TTN-AS1c.97071A= (p.Glu32357=)
c.78156A= (p.Glu26052=)
c.77955A= (p.Glu25985=)
c.77580A= (p.Glu25860=)
c.104775A= (p.Glu34925=)
c.99852A= (p.Glu33284=)
n.446+8204T=
n.220-3892T=
c.103872A= (p.Glu34624=)
c.77766A= (p.Glu25922=)
c.77625A= (p.Glu25875=)
c.103668A= (p.Glu34556=)
c.99066A= (p.Glu33022=)
c.99063A= (p.Glu33021=)
c.96105A= (p.Glu32035=)
c.77721A= (p.Glu25907=)
c.99216A= (p.Glu33072=)
c.99213A= (p.Glu33071=)
c.98646A= (p.Glu32882=)
c.95988A= (p.Glu31996=)
c.95907A= (p.Glu31969=)
c.77670A= (p.Glu25890=)
c.67524A= (p.Glu22508=)
2g.178531841T>ACA349410954TTN,TTN-AS1c.97070A>T (p.Glu32357Val)
c.78155A>T (p.Glu26052Val)
c.77954A>T (p.Glu25985Val)
c.77579A>T (p.Glu25860Val)
c.104774A>T (p.Glu34925Val)
c.99851A>T (p.Glu33284Val)
n.446+8205T>A
n.220-3891T>A
c.103871A>T (p.Glu34624Val)
c.77765A>T (p.Glu25922Val)
c.77624A>T (p.Glu25875Val)
c.103667A>T (p.Glu34556Val)
c.99065A>T (p.Glu33022Val)
c.99062A>T (p.Glu33021Val)
c.96104A>T (p.Glu32035Val)
c.77720A>T (p.Glu25907Val)
c.99215A>T (p.Glu33072Val)
c.99212A>T (p.Glu33071Val)
c.98645A>T (p.Glu32882Val)
c.95987A>T (p.Glu31996Val)
c.95906A>T (p.Glu31969Val)
c.77669A>T (p.Glu25890Val)
c.67523A>T (p.Glu22508Val)
2g.178531841T>CCA349410953TTN,TTN-AS1c.97070A>G (p.Glu32357Gly)
c.78155A>G (p.Glu26052Gly)
c.77954A>G (p.Glu25985Gly)
c.77579A>G (p.Glu25860Gly)
c.104774A>G (p.Glu34925Gly)
c.99851A>G (p.Glu33284Gly)
n.446+8205T>C
n.220-3891T>C
c.103871A>G (p.Glu34624Gly)
c.77765A>G (p.Glu25922Gly)
c.77624A>G (p.Glu25875Gly)
c.103667A>G (p.Glu34556Gly)
c.99065A>G (p.Glu33022Gly)
c.99062A>G (p.Glu33021Gly)
c.96104A>G (p.Glu32035Gly)
c.77720A>G (p.Glu25907Gly)
c.99215A>G (p.Glu33072Gly)
c.99212A>G (p.Glu33071Gly)
c.98645A>G (p.Glu32882Gly)
c.95987A>G (p.Glu31996Gly)
c.95906A>G (p.Glu31969Gly)
c.77669A>G (p.Glu25890Gly)
c.67523A>G (p.Glu22508Gly)
2g.178531841T>GCA181565TTN,TTN-AS1c.97070A>C (p.Glu32357Ala)
c.78155A>C (p.Glu26052Ala)
c.77954A>C (p.Glu25985Ala)
c.77579A>C (p.Glu25860Ala)
c.104774A>C (p.Glu34925Ala)
c.99851A>C (p.Glu33284Ala)
n.446+8205T>G
n.220-3891T>G
c.103871A>C (p.Glu34624Ala)
c.77765A>C (p.Glu25922Ala)
c.77624A>C (p.Glu25875Ala)
c.103667A>C (p.Glu34556Ala)
c.99065A>C (p.Glu33022Ala)
c.99062A>C (p.Glu33021Ala)
c.96104A>C (p.Glu32035Ala)
c.77720A>C (p.Glu25907Ala)
c.99215A>C (p.Glu33072Ala)
c.99212A>C (p.Glu33071Ala)
c.98645A>C (p.Glu32882Ala)
c.95987A>C (p.Glu31996Ala)
c.95906A>C (p.Glu31969Ala)
c.77669A>C (p.Glu25890Ala)
c.67523A>C (p.Glu22508Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531841T=CA1310517947TTN,TTN-AS1c.97070A= (p.Glu32357=)
c.78155A= (p.Glu26052=)
c.77954A= (p.Glu25985=)
c.77579A= (p.Glu25860=)
c.104774A= (p.Glu34925=)
c.99851A= (p.Glu33284=)
n.446+8205T=
n.220-3891T=
c.103871A= (p.Glu34624=)
c.77765A= (p.Glu25922=)
c.77624A= (p.Glu25875=)
c.103667A= (p.Glu34556=)
c.99065A= (p.Glu33022=)
c.99062A= (p.Glu33021=)
c.96104A= (p.Glu32035=)
c.77720A= (p.Glu25907=)
c.99215A= (p.Glu33072=)
c.99212A= (p.Glu33071=)
c.98645A= (p.Glu32882=)
c.95987A= (p.Glu31996=)
c.95906A= (p.Glu31969=)
c.77669A= (p.Glu25890=)
c.67523A= (p.Glu22508=)
2g.178531842C>ACA349410955TTN,TTN-AS1c.97069G>T (p.Glu32357Ter)
c.78154G>T (p.Glu26052Ter)
c.77953G>T (p.Glu25985Ter)
c.77578G>T (p.Glu25860Ter)
c.104773G>T (p.Glu34925Ter)
c.99850G>T (p.Glu33284Ter)
n.446+8206C>A
n.220-3890C>A
c.103870G>T (p.Glu34624Ter)
c.77764G>T (p.Glu25922Ter)
c.77623G>T (p.Glu25875Ter)
c.103666G>T (p.Glu34556Ter)
c.99064G>T (p.Glu33022Ter)
c.99061G>T (p.Glu33021Ter)
c.96103G>T (p.Glu32035Ter)
c.77719G>T (p.Glu25907Ter)
c.99214G>T (p.Glu33072Ter)
c.99211G>T (p.Glu33071Ter)
c.98644G>T (p.Glu32882Ter)
c.95986G>T (p.Glu31996Ter)
c.95905G>T (p.Glu31969Ter)
c.77668G>T (p.Glu25890Ter)
c.67522G>T (p.Glu22508Ter)
2g.178531842C>GCA349410956TTN,TTN-AS1c.97069G>C (p.Glu32357Gln)
c.78154G>C (p.Glu26052Gln)
c.77953G>C (p.Glu25985Gln)
c.77578G>C (p.Glu25860Gln)
c.104773G>C (p.Glu34925Gln)
c.99850G>C (p.Glu33284Gln)
n.446+8206C>G
n.220-3890C>G
c.103870G>C (p.Glu34624Gln)
c.77764G>C (p.Glu25922Gln)
c.77623G>C (p.Glu25875Gln)
c.103666G>C (p.Glu34556Gln)
c.99064G>C (p.Glu33022Gln)
c.99061G>C (p.Glu33021Gln)
c.96103G>C (p.Glu32035Gln)
c.77719G>C (p.Glu25907Gln)
c.99214G>C (p.Glu33072Gln)
c.99211G>C (p.Glu33071Gln)
c.98644G>C (p.Glu32882Gln)
c.95986G>C (p.Glu31996Gln)
c.95905G>C (p.Glu31969Gln)
c.77668G>C (p.Glu25890Gln)
c.67522G>C (p.Glu22508Gln)
2g.178531842C>TCA349410957TTN,TTN-AS1c.97069G>A (p.Glu32357Lys)
c.78154G>A (p.Glu26052Lys)
c.77953G>A (p.Glu25985Lys)
c.77578G>A (p.Glu25860Lys)
c.104773G>A (p.Glu34925Lys)
c.99850G>A (p.Glu33284Lys)
n.446+8206C>T
n.220-3890C>T
c.103870G>A (p.Glu34624Lys)
c.77764G>A (p.Glu25922Lys)
c.77623G>A (p.Glu25875Lys)
c.103666G>A (p.Glu34556Lys)
c.99064G>A (p.Glu33022Lys)
c.99061G>A (p.Glu33021Lys)
c.96103G>A (p.Glu32035Lys)
c.77719G>A (p.Glu25907Lys)
c.99214G>A (p.Glu33072Lys)
c.99211G>A (p.Glu33071Lys)
c.98644G>A (p.Glu32882Lys)
c.95986G>A (p.Glu31996Lys)
c.95905G>A (p.Glu31969Lys)
c.77668G>A (p.Glu25890Lys)
c.67522G>A (p.Glu22508Lys)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178531843T>ACA430235473TTN,TTN-AS1c.97068A>T (p.Ser32356=)
c.78153A>T (p.Ser26051=)
c.77952A>T (p.Ser25984=)
c.77577A>T (p.Ser25859=)
c.104772A>T (p.Ser34924=)
c.99849A>T (p.Ser33283=)
n.446+8207T>A
n.220-3889T>A
c.103869A>T (p.Ser34623=)
c.77763A>T (p.Ser25921=)
c.77622A>T (p.Ser25874=)
c.103665A>T (p.Ser34555=)
c.99063A>T (p.Ser33021=)
c.99060A>T (p.Ser33020=)
c.96102A>T (p.Ser32034=)
c.77718A>T (p.Ser25906=)
c.99213A>T (p.Ser33071=)
c.99210A>T (p.Ser33070=)
c.98643A>T (p.Ser32881=)
c.95985A>T (p.Ser31995=)
c.95904A>T (p.Ser31968=)
c.77667A>T (p.Ser25889=)
c.67521A>T (p.Ser22507=)
 ClinVar
2g.178531843T>CCA430235472TTN,TTN-AS1c.97068A>G (p.Ser32356=)
c.78153A>G (p.Ser26051=)
c.77952A>G (p.Ser25984=)
c.77577A>G (p.Ser25859=)
c.104772A>G (p.Ser34924=)
c.99849A>G (p.Ser33283=)
n.446+8207T>C
n.220-3889T>C
c.103869A>G (p.Ser34623=)
c.77763A>G (p.Ser25921=)
c.77622A>G (p.Ser25874=)
c.103665A>G (p.Ser34555=)
c.99063A>G (p.Ser33021=)
c.99060A>G (p.Ser33020=)
c.96102A>G (p.Ser32034=)
c.77718A>G (p.Ser25906=)
c.99213A>G (p.Ser33071=)
c.99210A>G (p.Ser33070=)
c.98643A>G (p.Ser32881=)
c.95985A>G (p.Ser31995=)
c.95904A>G (p.Ser31968=)
c.77667A>G (p.Ser25889=)
c.67521A>G (p.Ser22507=)
2g.178531843T>GCA430235471TTN,TTN-AS1c.97068A>C (p.Ser32356=)
c.78153A>C (p.Ser26051=)
c.77952A>C (p.Ser25984=)
c.77577A>C (p.Ser25859=)
c.104772A>C (p.Ser34924=)
c.99849A>C (p.Ser33283=)
n.446+8207T>G
n.220-3889T>G
c.103869A>C (p.Ser34623=)
c.77763A>C (p.Ser25921=)
c.77622A>C (p.Ser25874=)
c.103665A>C (p.Ser34555=)
c.99063A>C (p.Ser33021=)
c.99060A>C (p.Ser33020=)
c.96102A>C (p.Ser32034=)
c.77718A>C (p.Ser25906=)
c.99213A>C (p.Ser33071=)
c.99210A>C (p.Ser33070=)
c.98643A>C (p.Ser32881=)
c.95985A>C (p.Ser31995=)
c.95904A>C (p.Ser31968=)
c.77667A>C (p.Ser25889=)
c.67521A>C (p.Ser22507=)
2g.178531844G>ACA349410958TTN,TTN-AS1c.97067C>T (p.Ser32356Leu)
c.78152C>T (p.Ser26051Leu)
c.77951C>T (p.Ser25984Leu)
c.77576C>T (p.Ser25859Leu)
c.104771C>T (p.Ser34924Leu)
c.99848C>T (p.Ser33283Leu)
n.446+8208G>A
n.220-3888G>A
c.103868C>T (p.Ser34623Leu)
c.77762C>T (p.Ser25921Leu)
c.77621C>T (p.Ser25874Leu)
c.103664C>T (p.Ser34555Leu)
c.99062C>T (p.Ser33021Leu)
c.99059C>T (p.Ser33020Leu)
c.96101C>T (p.Ser32034Leu)
c.77717C>T (p.Ser25906Leu)
c.99212C>T (p.Ser33071Leu)
c.99209C>T (p.Ser33070Leu)
c.98642C>T (p.Ser32881Leu)
c.95984C>T (p.Ser31995Leu)
c.95903C>T (p.Ser31968Leu)
c.77666C>T (p.Ser25889Leu)
c.67520C>T (p.Ser22507Leu)
2g.178531844G>CCA349410959TTN,TTN-AS1c.97067C>G (p.Ser32356Ter)
c.78152C>G (p.Ser26051Ter)
c.77951C>G (p.Ser25984Ter)
c.77576C>G (p.Ser25859Ter)
c.104771C>G (p.Ser34924Ter)
c.99848C>G (p.Ser33283Ter)
n.446+8208G>C
n.220-3888G>C
c.103868C>G (p.Ser34623Ter)
c.77762C>G (p.Ser25921Ter)
c.77621C>G (p.Ser25874Ter)
c.103664C>G (p.Ser34555Ter)
c.99062C>G (p.Ser33021Ter)
c.99059C>G (p.Ser33020Ter)
c.96101C>G (p.Ser32034Ter)
c.77717C>G (p.Ser25906Ter)
c.99212C>G (p.Ser33071Ter)
c.99209C>G (p.Ser33070Ter)
c.98642C>G (p.Ser32881Ter)
c.95984C>G (p.Ser31995Ter)
c.95903C>G (p.Ser31968Ter)
c.77666C>G (p.Ser25889Ter)
c.67520C>G (p.Ser22507Ter)
 gnomAD v4
2g.178531844G=CA1310517948TTN,TTN-AS1c.97067C= (p.Ser32356=)
c.78152C= (p.Ser26051=)
c.77951C= (p.Ser25984=)
c.77576C= (p.Ser25859=)
c.104771C= (p.Ser34924=)
c.99848C= (p.Ser33283=)
n.446+8208G=
n.220-3888G=
c.103868C= (p.Ser34623=)
c.77762C= (p.Ser25921=)
c.77621C= (p.Ser25874=)
c.103664C= (p.Ser34555=)
c.99062C= (p.Ser33021=)
c.99059C= (p.Ser33020=)
c.96101C= (p.Ser32034=)
c.77717C= (p.Ser25906=)
c.99212C= (p.Ser33071=)
c.99209C= (p.Ser33070=)
c.98642C= (p.Ser32881=)
c.95984C= (p.Ser31995=)
c.95903C= (p.Ser31968=)
c.77666C= (p.Ser25889=)
c.67520C= (p.Ser22507=)
2g.178531844G>TCA349410960TTN,TTN-AS1c.97067C>A (p.Ser32356Ter)
c.78152C>A (p.Ser26051Ter)
c.77951C>A (p.Ser25984Ter)
c.77576C>A (p.Ser25859Ter)
c.104771C>A (p.Ser34924Ter)
c.99848C>A (p.Ser33283Ter)
n.446+8208G>T
n.220-3888G>T
c.103868C>A (p.Ser34623Ter)
c.77762C>A (p.Ser25921Ter)
c.77621C>A (p.Ser25874Ter)
c.103664C>A (p.Ser34555Ter)
c.99062C>A (p.Ser33021Ter)
c.99059C>A (p.Ser33020Ter)
c.96101C>A (p.Ser32034Ter)
c.77717C>A (p.Ser25906Ter)
c.99212C>A (p.Ser33071Ter)
c.99209C>A (p.Ser33070Ter)
c.98642C>A (p.Ser32881Ter)
c.95984C>A (p.Ser31995Ter)
c.95903C>A (p.Ser31968Ter)
c.77666C>A (p.Ser25889Ter)
c.67520C>A (p.Ser22507Ter)
 ClinVar dbSNP
2g.178531845A>CCA349410961TTN,TTN-AS1c.97066T>G (p.Ser32356Ala)
c.78151T>G (p.Ser26051Ala)
c.77950T>G (p.Ser25984Ala)
c.77575T>G (p.Ser25859Ala)
c.104770T>G (p.Ser34924Ala)
c.99847T>G (p.Ser33283Ala)
n.446+8209A>C
n.220-3887A>C
c.103867T>G (p.Ser34623Ala)
c.77761T>G (p.Ser25921Ala)
c.77620T>G (p.Ser25874Ala)
c.103663T>G (p.Ser34555Ala)
c.99061T>G (p.Ser33021Ala)
c.99058T>G (p.Ser33020Ala)
c.96100T>G (p.Ser32034Ala)
c.77716T>G (p.Ser25906Ala)
c.99211T>G (p.Ser33071Ala)
c.99208T>G (p.Ser33070Ala)
c.98641T>G (p.Ser32881Ala)
c.95983T>G (p.Ser31995Ala)
c.95902T>G (p.Ser31968Ala)
c.77665T>G (p.Ser25889Ala)
c.67519T>G (p.Ser22507Ala)
2g.178531845A>GCA349410963TTN,TTN-AS1c.97066T>C (p.Ser32356Pro)
c.78151T>C (p.Ser26051Pro)
c.77950T>C (p.Ser25984Pro)
c.77575T>C (p.Ser25859Pro)
c.104770T>C (p.Ser34924Pro)
c.99847T>C (p.Ser33283Pro)
n.446+8209A>G
n.220-3887A>G
c.103867T>C (p.Ser34623Pro)
c.77761T>C (p.Ser25921Pro)
c.77620T>C (p.Ser25874Pro)
c.103663T>C (p.Ser34555Pro)
c.99061T>C (p.Ser33021Pro)
c.99058T>C (p.Ser33020Pro)
c.96100T>C (p.Ser32034Pro)
c.77716T>C (p.Ser25906Pro)
c.99211T>C (p.Ser33071Pro)
c.99208T>C (p.Ser33070Pro)
c.98641T>C (p.Ser32881Pro)
c.95983T>C (p.Ser31995Pro)
c.95902T>C (p.Ser31968Pro)
c.77665T>C (p.Ser25889Pro)
c.67519T>C (p.Ser22507Pro)
2g.178531845A>TCA349410962TTN,TTN-AS1c.97066T>A (p.Ser32356Thr)
c.78151T>A (p.Ser26051Thr)
c.77950T>A (p.Ser25984Thr)
c.77575T>A (p.Ser25859Thr)
c.104770T>A (p.Ser34924Thr)
c.99847T>A (p.Ser33283Thr)
n.446+8209A>T
n.220-3887A>T
c.103867T>A (p.Ser34623Thr)
c.77761T>A (p.Ser25921Thr)
c.77620T>A (p.Ser25874Thr)
c.103663T>A (p.Ser34555Thr)
c.99061T>A (p.Ser33021Thr)
c.99058T>A (p.Ser33020Thr)
c.96100T>A (p.Ser32034Thr)
c.77716T>A (p.Ser25906Thr)
c.99211T>A (p.Ser33071Thr)
c.99208T>A (p.Ser33070Thr)
c.98641T>A (p.Ser32881Thr)
c.95983T>A (p.Ser31995Thr)
c.95902T>A (p.Ser31968Thr)
c.77665T>A (p.Ser25889Thr)
c.67519T>A (p.Ser22507Thr)
2g.178531846T>ACA430235481TTN,TTN-AS1c.97065A>T (p.Thr32355=)
c.78150A>T (p.Thr26050=)
c.77949A>T (p.Thr25983=)
c.77574A>T (p.Thr25858=)
c.104769A>T (p.Thr34923=)
c.99846A>T (p.Thr33282=)
n.446+8210T>A
n.220-3886T>A
c.103866A>T (p.Thr34622=)
c.77760A>T (p.Thr25920=)
c.77619A>T (p.Thr25873=)
c.103662A>T (p.Thr34554=)
c.99060A>T (p.Thr33020=)
c.99057A>T (p.Thr33019=)
c.96099A>T (p.Thr32033=)
c.77715A>T (p.Thr25905=)
c.99210A>T (p.Thr33070=)
c.99207A>T (p.Thr33069=)
c.98640A>T (p.Thr32880=)
c.95982A>T (p.Thr31994=)
c.95901A>T (p.Thr31967=)
c.77664A>T (p.Thr25888=)
c.67518A>T (p.Thr22506=)
2g.178531846T>CCA430235480TTN,TTN-AS1c.97065A>G (p.Thr32355=)
c.78150A>G (p.Thr26050=)
c.77949A>G (p.Thr25983=)
c.77574A>G (p.Thr25858=)
c.104769A>G (p.Thr34923=)
c.99846A>G (p.Thr33282=)
n.446+8210T>C
n.220-3886T>C
c.103866A>G (p.Thr34622=)
c.77760A>G (p.Thr25920=)
c.77619A>G (p.Thr25873=)
c.103662A>G (p.Thr34554=)
c.99060A>G (p.Thr33020=)
c.99057A>G (p.Thr33019=)
c.96099A>G (p.Thr32033=)
c.77715A>G (p.Thr25905=)
c.99210A>G (p.Thr33070=)
c.99207A>G (p.Thr33069=)
c.98640A>G (p.Thr32880=)
c.95982A>G (p.Thr31994=)
c.95901A>G (p.Thr31967=)
c.77664A>G (p.Thr25888=)
c.67518A>G (p.Thr22506=)
2g.178531846T>GCA284296TTN,TTN-AS1c.97065A>C (p.Thr32355=)
c.78150A>C (p.Thr26050=)
c.77949A>C (p.Thr25983=)
c.77574A>C (p.Thr25858=)
c.104769A>C (p.Thr34923=)
c.99846A>C (p.Thr33282=)
n.446+8210T>G
n.220-3886T>G
c.103866A>C (p.Thr34622=)
c.77760A>C (p.Thr25920=)
c.77619A>C (p.Thr25873=)
c.103662A>C (p.Thr34554=)
c.99060A>C (p.Thr33020=)
c.99057A>C (p.Thr33019=)
c.96099A>C (p.Thr32033=)
c.77715A>C (p.Thr25905=)
c.99210A>C (p.Thr33070=)
c.99207A>C (p.Thr33069=)
c.98640A>C (p.Thr32880=)
c.95982A>C (p.Thr31994=)
c.95901A>C (p.Thr31967=)
c.77664A>C (p.Thr25888=)
c.67518A>C (p.Thr22506=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531846T=CA1310517949TTN,TTN-AS1c.97065A= (p.Thr32355=)
c.78150A= (p.Thr26050=)
c.77949A= (p.Thr25983=)
c.77574A= (p.Thr25858=)
c.104769A= (p.Thr34923=)
c.99846A= (p.Thr33282=)
n.446+8210T=
n.220-3886T=
c.103866A= (p.Thr34622=)
c.77760A= (p.Thr25920=)
c.77619A= (p.Thr25873=)
c.103662A= (p.Thr34554=)
c.99060A= (p.Thr33020=)
c.99057A= (p.Thr33019=)
c.96099A= (p.Thr32033=)
c.77715A= (p.Thr25905=)
c.99210A= (p.Thr33070=)
c.99207A= (p.Thr33069=)
c.98640A= (p.Thr32880=)
c.95982A= (p.Thr31994=)
c.95901A= (p.Thr31967=)
c.77664A= (p.Thr25888=)
c.67518A= (p.Thr22506=)
2g.178531847G>ACA349410964TTN,TTN-AS1c.97064C>T (p.Thr32355Ile)
c.78149C>T (p.Thr26050Ile)
c.77948C>T (p.Thr25983Ile)
c.77573C>T (p.Thr25858Ile)
c.104768C>T (p.Thr34923Ile)
c.99845C>T (p.Thr33282Ile)
n.446+8211G>A
n.220-3885G>A
c.103865C>T (p.Thr34622Ile)
c.77759C>T (p.Thr25920Ile)
c.77618C>T (p.Thr25873Ile)
c.103661C>T (p.Thr34554Ile)
c.99059C>T (p.Thr33020Ile)
c.99056C>T (p.Thr33019Ile)
c.96098C>T (p.Thr32033Ile)
c.77714C>T (p.Thr25905Ile)
c.99209C>T (p.Thr33070Ile)
c.99206C>T (p.Thr33069Ile)
c.98639C>T (p.Thr32880Ile)
c.95981C>T (p.Thr31994Ile)
c.95900C>T (p.Thr31967Ile)
c.77663C>T (p.Thr25888Ile)
c.67517C>T (p.Thr22506Ile)
 gnomAD v4
2g.178531847G>CCA349410965TTN,TTN-AS1c.97064C>G (p.Thr32355Arg)
c.78149C>G (p.Thr26050Arg)
c.77948C>G (p.Thr25983Arg)
c.77573C>G (p.Thr25858Arg)
c.104768C>G (p.Thr34923Arg)
c.99845C>G (p.Thr33282Arg)
n.446+8211G>C
n.220-3885G>C
c.103865C>G (p.Thr34622Arg)
c.77759C>G (p.Thr25920Arg)
c.77618C>G (p.Thr25873Arg)
c.103661C>G (p.Thr34554Arg)
c.99059C>G (p.Thr33020Arg)
c.99056C>G (p.Thr33019Arg)
c.96098C>G (p.Thr32033Arg)
c.77714C>G (p.Thr25905Arg)
c.99209C>G (p.Thr33070Arg)
c.99206C>G (p.Thr33069Arg)
c.98639C>G (p.Thr32880Arg)
c.95981C>G (p.Thr31994Arg)
c.95900C>G (p.Thr31967Arg)
c.77663C>G (p.Thr25888Arg)
c.67517C>G (p.Thr22506Arg)
2g.178531847G>TCA349410966TTN,TTN-AS1c.97064C>A (p.Thr32355Lys)
c.78149C>A (p.Thr26050Lys)
c.77948C>A (p.Thr25983Lys)
c.77573C>A (p.Thr25858Lys)
c.104768C>A (p.Thr34923Lys)
c.99845C>A (p.Thr33282Lys)
n.446+8211G>T
n.220-3885G>T
c.103865C>A (p.Thr34622Lys)
c.77759C>A (p.Thr25920Lys)
c.77618C>A (p.Thr25873Lys)
c.103661C>A (p.Thr34554Lys)
c.99059C>A (p.Thr33020Lys)
c.99056C>A (p.Thr33019Lys)
c.96098C>A (p.Thr32033Lys)
c.77714C>A (p.Thr25905Lys)
c.99209C>A (p.Thr33070Lys)
c.99206C>A (p.Thr33069Lys)
c.98639C>A (p.Thr32880Lys)
c.95981C>A (p.Thr31994Lys)
c.95900C>A (p.Thr31967Lys)
c.77663C>A (p.Thr25888Lys)
c.67517C>A (p.Thr22506Lys)
2g.178531848T>ACA349410967TTN,TTN-AS1c.97063A>T (p.Thr32355Ser)
c.78148A>T (p.Thr26050Ser)
c.77947A>T (p.Thr25983Ser)
c.77572A>T (p.Thr25858Ser)
c.104767A>T (p.Thr34923Ser)
c.99844A>T (p.Thr33282Ser)
n.446+8212T>A
n.220-3884T>A
c.103864A>T (p.Thr34622Ser)
c.77758A>T (p.Thr25920Ser)
c.77617A>T (p.Thr25873Ser)
c.103660A>T (p.Thr34554Ser)
c.99058A>T (p.Thr33020Ser)
c.99055A>T (p.Thr33019Ser)
c.96097A>T (p.Thr32033Ser)
c.77713A>T (p.Thr25905Ser)
c.99208A>T (p.Thr33070Ser)
c.99205A>T (p.Thr33069Ser)
c.98638A>T (p.Thr32880Ser)
c.95980A>T (p.Thr31994Ser)
c.95899A>T (p.Thr31967Ser)
c.77662A>T (p.Thr25888Ser)
c.67516A>T (p.Thr22506Ser)
 ClinVar dbSNP gnomAD v4
2g.178531848T>CCA349410968TTN,TTN-AS1c.97063A>G (p.Thr32355Ala)
c.78148A>G (p.Thr26050Ala)
c.77947A>G (p.Thr25983Ala)
c.77572A>G (p.Thr25858Ala)
c.104767A>G (p.Thr34923Ala)
c.99844A>G (p.Thr33282Ala)
n.446+8212T>C
n.220-3884T>C
c.103864A>G (p.Thr34622Ala)
c.77758A>G (p.Thr25920Ala)
c.77617A>G (p.Thr25873Ala)
c.103660A>G (p.Thr34554Ala)
c.99058A>G (p.Thr33020Ala)
c.99055A>G (p.Thr33019Ala)
c.96097A>G (p.Thr32033Ala)
c.77713A>G (p.Thr25905Ala)
c.99208A>G (p.Thr33070Ala)
c.99205A>G (p.Thr33069Ala)
c.98638A>G (p.Thr32880Ala)
c.95980A>G (p.Thr31994Ala)
c.95899A>G (p.Thr31967Ala)
c.77662A>G (p.Thr25888Ala)
c.67516A>G (p.Thr22506Ala)
 dbSNP
2g.178531848T>GCA349410969TTN,TTN-AS1c.97063A>C (p.Thr32355Pro)
c.78148A>C (p.Thr26050Pro)
c.77947A>C (p.Thr25983Pro)
c.77572A>C (p.Thr25858Pro)
c.104767A>C (p.Thr34923Pro)
c.99844A>C (p.Thr33282Pro)
n.446+8212T>G
n.220-3884T>G
c.103864A>C (p.Thr34622Pro)
c.77758A>C (p.Thr25920Pro)
c.77617A>C (p.Thr25873Pro)
c.103660A>C (p.Thr34554Pro)
c.99058A>C (p.Thr33020Pro)
c.99055A>C (p.Thr33019Pro)
c.96097A>C (p.Thr32033Pro)
c.77713A>C (p.Thr25905Pro)
c.99208A>C (p.Thr33070Pro)
c.99205A>C (p.Thr33069Pro)
c.98638A>C (p.Thr32880Pro)
c.95980A>C (p.Thr31994Pro)
c.95899A>C (p.Thr31967Pro)
c.77662A>C (p.Thr25888Pro)
c.67516A>C (p.Thr22506Pro)
2g.178531848T=CA1310517950TTN,TTN-AS1c.97063A= (p.Thr32355=)
c.78148A= (p.Thr26050=)
c.77947A= (p.Thr25983=)
c.77572A= (p.Thr25858=)
c.104767A= (p.Thr34923=)
c.99844A= (p.Thr33282=)
n.446+8212T=
n.220-3884T=
c.103864A= (p.Thr34622=)
c.77758A= (p.Thr25920=)
c.77617A= (p.Thr25873=)
c.103660A= (p.Thr34554=)
c.99058A= (p.Thr33020=)
c.99055A= (p.Thr33019=)
c.96097A= (p.Thr32033=)
c.77713A= (p.Thr25905=)
c.99208A= (p.Thr33070=)
c.99205A= (p.Thr33069=)
c.98638A= (p.Thr32880=)
c.95980A= (p.Thr31994=)
c.95899A= (p.Thr31967=)
c.77662A= (p.Thr25888=)
c.67516A= (p.Thr22506=)
2g.178531849C>ACA349410970TTN,TTN-AS1c.97062G>T (p.Lys32354Asn)
c.78147G>T (p.Lys26049Asn)
c.77946G>T (p.Lys25982Asn)
c.77571G>T (p.Lys25857Asn)
c.104766G>T (p.Lys34922Asn)
c.99843G>T (p.Lys33281Asn)
n.446+8213C>A
n.220-3883C>A
c.103863G>T (p.Lys34621Asn)
c.77757G>T (p.Lys25919Asn)
c.77616G>T (p.Lys25872Asn)
c.103659G>T (p.Lys34553Asn)
c.99057G>T (p.Lys33019Asn)
c.99054G>T (p.Lys33018Asn)
c.96096G>T (p.Lys32032Asn)
c.77712G>T (p.Lys25904Asn)
c.99207G>T (p.Lys33069Asn)
c.99204G>T (p.Lys33068Asn)
c.98637G>T (p.Lys32879Asn)
c.95979G>T (p.Lys31993Asn)
c.95898G>T (p.Lys31966Asn)
c.77661G>T (p.Lys25887Asn)
c.67515G>T (p.Lys22505Asn)
2g.178531849C>GCA349410971TTN,TTN-AS1c.97062G>C (p.Lys32354Asn)
c.78147G>C (p.Lys26049Asn)
c.77946G>C (p.Lys25982Asn)
c.77571G>C (p.Lys25857Asn)
c.104766G>C (p.Lys34922Asn)
c.99843G>C (p.Lys33281Asn)
n.446+8213C>G
n.220-3883C>G
c.103863G>C (p.Lys34621Asn)
c.77757G>C (p.Lys25919Asn)
c.77616G>C (p.Lys25872Asn)
c.103659G>C (p.Lys34553Asn)
c.99057G>C (p.Lys33019Asn)
c.99054G>C (p.Lys33018Asn)
c.96096G>C (p.Lys32032Asn)
c.77712G>C (p.Lys25904Asn)
c.99207G>C (p.Lys33069Asn)
c.99204G>C (p.Lys33068Asn)
c.98637G>C (p.Lys32879Asn)
c.95979G>C (p.Lys31993Asn)
c.95898G>C (p.Lys31966Asn)
c.77661G>C (p.Lys25887Asn)
c.67515G>C (p.Lys22505Asn)
2g.178531849C>TCA430235485TTN,TTN-AS1c.97062G>A (p.Lys32354=)
c.78147G>A (p.Lys26049=)
c.77946G>A (p.Lys25982=)
c.77571G>A (p.Lys25857=)
c.104766G>A (p.Lys34922=)
c.99843G>A (p.Lys33281=)
n.446+8213C>T
n.220-3883C>T
c.103863G>A (p.Lys34621=)
c.77757G>A (p.Lys25919=)
c.77616G>A (p.Lys25872=)
c.103659G>A (p.Lys34553=)
c.99057G>A (p.Lys33019=)
c.99054G>A (p.Lys33018=)
c.96096G>A (p.Lys32032=)
c.77712G>A (p.Lys25904=)
c.99207G>A (p.Lys33069=)
c.99204G>A (p.Lys33068=)
c.98637G>A (p.Lys32879=)
c.95979G>A (p.Lys31993=)
c.95898G>A (p.Lys31966=)
c.77661G>A (p.Lys25887=)
c.67515G>A (p.Lys22505=)
2g.178531850T>ACA349410972TTN,TTN-AS1c.97061A>T (p.Lys32354Met)
c.78146A>T (p.Lys26049Met)
c.77945A>T (p.Lys25982Met)
c.77570A>T (p.Lys25857Met)
c.104765A>T (p.Lys34922Met)
c.99842A>T (p.Lys33281Met)
n.446+8214T>A
n.220-3882T>A
c.103862A>T (p.Lys34621Met)
c.77756A>T (p.Lys25919Met)
c.77615A>T (p.Lys25872Met)
c.103658A>T (p.Lys34553Met)
c.99056A>T (p.Lys33019Met)
c.99053A>T (p.Lys33018Met)
c.96095A>T (p.Lys32032Met)
c.77711A>T (p.Lys25904Met)
c.99206A>T (p.Lys33069Met)
c.99203A>T (p.Lys33068Met)
c.98636A>T (p.Lys32879Met)
c.95978A>T (p.Lys31993Met)
c.95897A>T (p.Lys31966Met)
c.77660A>T (p.Lys25887Met)
c.67514A>T (p.Lys22505Met)
2g.178531850T>CCA349410973TTN,TTN-AS1c.97061A>G (p.Lys32354Arg)
c.78146A>G (p.Lys26049Arg)
c.77945A>G (p.Lys25982Arg)
c.77570A>G (p.Lys25857Arg)
c.104765A>G (p.Lys34922Arg)
c.99842A>G (p.Lys33281Arg)
n.446+8214T>C
n.220-3882T>C
c.103862A>G (p.Lys34621Arg)
c.77756A>G (p.Lys25919Arg)
c.77615A>G (p.Lys25872Arg)
c.103658A>G (p.Lys34553Arg)
c.99056A>G (p.Lys33019Arg)
c.99053A>G (p.Lys33018Arg)
c.96095A>G (p.Lys32032Arg)
c.77711A>G (p.Lys25904Arg)
c.99206A>G (p.Lys33069Arg)
c.99203A>G (p.Lys33068Arg)
c.98636A>G (p.Lys32879Arg)
c.95978A>G (p.Lys31993Arg)
c.95897A>G (p.Lys31966Arg)
c.77660A>G (p.Lys25887Arg)
c.67514A>G (p.Lys22505Arg)
2g.178531850T>GCA349410974TTN,TTN-AS1c.97061A>C (p.Lys32354Thr)
c.78146A>C (p.Lys26049Thr)
c.77945A>C (p.Lys25982Thr)
c.77570A>C (p.Lys25857Thr)
c.104765A>C (p.Lys34922Thr)
c.99842A>C (p.Lys33281Thr)
n.446+8214T>G
n.220-3882T>G
c.103862A>C (p.Lys34621Thr)
c.77756A>C (p.Lys25919Thr)
c.77615A>C (p.Lys25872Thr)
c.103658A>C (p.Lys34553Thr)
c.99056A>C (p.Lys33019Thr)
c.99053A>C (p.Lys33018Thr)
c.96095A>C (p.Lys32032Thr)
c.77711A>C (p.Lys25904Thr)
c.99206A>C (p.Lys33069Thr)
c.99203A>C (p.Lys33068Thr)
c.98636A>C (p.Lys32879Thr)
c.95978A>C (p.Lys31993Thr)
c.95897A>C (p.Lys31966Thr)
c.77660A>C (p.Lys25887Thr)
c.67514A>C (p.Lys22505Thr)
 dbSNP gnomAD v4
2g.178531850T=CA1310517951TTN,TTN-AS1c.97061A= (p.Lys32354=)
c.78146A= (p.Lys26049=)
c.77945A= (p.Lys25982=)
c.77570A= (p.Lys25857=)
c.104765A= (p.Lys34922=)
c.99842A= (p.Lys33281=)
n.446+8214T=
n.220-3882T=
c.103862A= (p.Lys34621=)
c.77756A= (p.Lys25919=)
c.77615A= (p.Lys25872=)
c.103658A= (p.Lys34553=)
c.99056A= (p.Lys33019=)
c.99053A= (p.Lys33018=)
c.96095A= (p.Lys32032=)
c.77711A= (p.Lys25904=)
c.99206A= (p.Lys33069=)
c.99203A= (p.Lys33068=)
c.98636A= (p.Lys32879=)
c.95978A= (p.Lys31993=)
c.95897A= (p.Lys31966=)
c.77660A= (p.Lys25887=)
c.67514A= (p.Lys22505=)
2g.178531851T>ACA349410977TTN,TTN-AS1c.97060A>T (p.Lys32354Ter)
c.78145A>T (p.Lys26049Ter)
c.77944A>T (p.Lys25982Ter)
c.77569A>T (p.Lys25857Ter)
c.104764A>T (p.Lys34922Ter)
c.99841A>T (p.Lys33281Ter)
n.446+8215T>A
n.220-3881T>A
c.103861A>T (p.Lys34621Ter)
c.77755A>T (p.Lys25919Ter)
c.77614A>T (p.Lys25872Ter)
c.103657A>T (p.Lys34553Ter)
c.99055A>T (p.Lys33019Ter)
c.99052A>T (p.Lys33018Ter)
c.96094A>T (p.Lys32032Ter)
c.77710A>T (p.Lys25904Ter)
c.99205A>T (p.Lys33069Ter)
c.99202A>T (p.Lys33068Ter)
c.98635A>T (p.Lys32879Ter)
c.95977A>T (p.Lys31993Ter)
c.95896A>T (p.Lys31966Ter)
c.77659A>T (p.Lys25887Ter)
c.67513A>T (p.Lys22505Ter)
2g.178531851T>CCA349410975TTN,TTN-AS1c.97060A>G (p.Lys32354Glu)
c.78145A>G (p.Lys26049Glu)
c.77944A>G (p.Lys25982Glu)
c.77569A>G (p.Lys25857Glu)
c.104764A>G (p.Lys34922Glu)
c.99841A>G (p.Lys33281Glu)
n.446+8215T>C
n.220-3881T>C
c.103861A>G (p.Lys34621Glu)
c.77755A>G (p.Lys25919Glu)
c.77614A>G (p.Lys25872Glu)
c.103657A>G (p.Lys34553Glu)
c.99055A>G (p.Lys33019Glu)
c.99052A>G (p.Lys33018Glu)
c.96094A>G (p.Lys32032Glu)
c.77710A>G (p.Lys25904Glu)
c.99205A>G (p.Lys33069Glu)
c.99202A>G (p.Lys33068Glu)
c.98635A>G (p.Lys32879Glu)
c.95977A>G (p.Lys31993Glu)
c.95896A>G (p.Lys31966Glu)
c.77659A>G (p.Lys25887Glu)
c.67513A>G (p.Lys22505Glu)
 gnomAD v4
2g.178531851T>GCA349410976TTN,TTN-AS1c.97060A>C (p.Lys32354Gln)
c.78145A>C (p.Lys26049Gln)
c.77944A>C (p.Lys25982Gln)
c.77569A>C (p.Lys25857Gln)
c.104764A>C (p.Lys34922Gln)
c.99841A>C (p.Lys33281Gln)
n.446+8215T>G
n.220-3881T>G
c.103861A>C (p.Lys34621Gln)
c.77755A>C (p.Lys25919Gln)
c.77614A>C (p.Lys25872Gln)
c.103657A>C (p.Lys34553Gln)
c.99055A>C (p.Lys33019Gln)
c.99052A>C (p.Lys33018Gln)
c.96094A>C (p.Lys32032Gln)
c.77710A>C (p.Lys25904Gln)
c.99205A>C (p.Lys33069Gln)
c.99202A>C (p.Lys33068Gln)
c.98635A>C (p.Lys32879Gln)
c.95977A>C (p.Lys31993Gln)
c.95896A>C (p.Lys31966Gln)
c.77659A>C (p.Lys25887Gln)
c.67513A>C (p.Lys22505Gln)
2g.178531852C>ACA349410978TTN,TTN-AS1c.97059G>T (p.Gln32353His)
c.78144G>T (p.Gln26048His)
c.77943G>T (p.Gln25981His)
c.77568G>T (p.Gln25856His)
c.104763G>T (p.Gln34921His)
c.99840G>T (p.Gln33280His)
n.446+8216C>A
n.220-3880C>A
c.103860G>T (p.Gln34620His)
c.77754G>T (p.Gln25918His)
c.77613G>T (p.Gln25871His)
c.103656G>T (p.Gln34552His)
c.99054G>T (p.Gln33018His)
c.99051G>T (p.Gln33017His)
c.96093G>T (p.Gln32031His)
c.77709G>T (p.Gln25903His)
c.99204G>T (p.Gln33068His)
c.99201G>T (p.Gln33067His)
c.98634G>T (p.Gln32878His)
c.95976G>T (p.Gln31992His)
c.95895G>T (p.Gln31965His)
c.77658G>T (p.Gln25886His)
c.67512G>T (p.Gln22504His)
2g.178531852C>GCA349410979TTN,TTN-AS1c.97059G>C (p.Gln32353His)
c.78144G>C (p.Gln26048His)
c.77943G>C (p.Gln25981His)
c.77568G>C (p.Gln25856His)
c.104763G>C (p.Gln34921His)
c.99840G>C (p.Gln33280His)
n.446+8216C>G
n.220-3880C>G
c.103860G>C (p.Gln34620His)
c.77754G>C (p.Gln25918His)
c.77613G>C (p.Gln25871His)
c.103656G>C (p.Gln34552His)
c.99054G>C (p.Gln33018His)
c.99051G>C (p.Gln33017His)
c.96093G>C (p.Gln32031His)
c.77709G>C (p.Gln25903His)
c.99204G>C (p.Gln33068His)
c.99201G>C (p.Gln33067His)
c.98634G>C (p.Gln32878His)
c.95976G>C (p.Gln31992His)
c.95895G>C (p.Gln31965His)
c.77658G>C (p.Gln25886His)
c.67512G>C (p.Gln22504His)
2g.178531852C>TCA430235489TTN,TTN-AS1c.97059G>A (p.Gln32353=)
c.78144G>A (p.Gln26048=)
c.77943G>A (p.Gln25981=)
c.77568G>A (p.Gln25856=)
c.104763G>A (p.Gln34921=)
c.99840G>A (p.Gln33280=)
n.446+8216C>T
n.220-3880C>T
c.103860G>A (p.Gln34620=)
c.77754G>A (p.Gln25918=)
c.77613G>A (p.Gln25871=)
c.103656G>A (p.Gln34552=)
c.99054G>A (p.Gln33018=)
c.99051G>A (p.Gln33017=)
c.96093G>A (p.Gln32031=)
c.77709G>A (p.Gln25903=)
c.99204G>A (p.Gln33068=)
c.99201G>A (p.Gln33067=)
c.98634G>A (p.Gln32878=)
c.95976G>A (p.Gln31992=)
c.95895G>A (p.Gln31965=)
c.77658G>A (p.Gln25886=)
c.67512G>A (p.Gln22504=)
2g.178531853T>ACA349410980TTN,TTN-AS1c.97058A>T (p.Gln32353Leu)
c.78143A>T (p.Gln26048Leu)
c.77942A>T (p.Gln25981Leu)
c.77567A>T (p.Gln25856Leu)
c.104762A>T (p.Gln34921Leu)
c.99839A>T (p.Gln33280Leu)
n.446+8217T>A
n.220-3879T>A
c.103859A>T (p.Gln34620Leu)
c.77753A>T (p.Gln25918Leu)
c.77612A>T (p.Gln25871Leu)
c.103655A>T (p.Gln34552Leu)
c.99053A>T (p.Gln33018Leu)
c.99050A>T (p.Gln33017Leu)
c.96092A>T (p.Gln32031Leu)
c.77708A>T (p.Gln25903Leu)
c.99203A>T (p.Gln33068Leu)
c.99200A>T (p.Gln33067Leu)
c.98633A>T (p.Gln32878Leu)
c.95975A>T (p.Gln31992Leu)
c.95894A>T (p.Gln31965Leu)
c.77657A>T (p.Gln25886Leu)
c.67511A>T (p.Gln22504Leu)
2g.178531853T>CCA349410981TTN,TTN-AS1c.97058A>G (p.Gln32353Arg)
c.78143A>G (p.Gln26048Arg)
c.77942A>G (p.Gln25981Arg)
c.77567A>G (p.Gln25856Arg)
c.104762A>G (p.Gln34921Arg)
c.99839A>G (p.Gln33280Arg)
n.446+8217T>C
n.220-3879T>C
c.103859A>G (p.Gln34620Arg)
c.77753A>G (p.Gln25918Arg)
c.77612A>G (p.Gln25871Arg)
c.103655A>G (p.Gln34552Arg)
c.99053A>G (p.Gln33018Arg)
c.99050A>G (p.Gln33017Arg)
c.96092A>G (p.Gln32031Arg)
c.77708A>G (p.Gln25903Arg)
c.99203A>G (p.Gln33068Arg)
c.99200A>G (p.Gln33067Arg)
c.98633A>G (p.Gln32878Arg)
c.95975A>G (p.Gln31992Arg)
c.95894A>G (p.Gln31965Arg)
c.77657A>G (p.Gln25886Arg)
c.67511A>G (p.Gln22504Arg)
2g.178531853T>GCA349410982TTN,TTN-AS1c.97058A>C (p.Gln32353Pro)
c.78143A>C (p.Gln26048Pro)
c.77942A>C (p.Gln25981Pro)
c.77567A>C (p.Gln25856Pro)
c.104762A>C (p.Gln34921Pro)
c.99839A>C (p.Gln33280Pro)
n.446+8217T>G
n.220-3879T>G
c.103859A>C (p.Gln34620Pro)
c.77753A>C (p.Gln25918Pro)
c.77612A>C (p.Gln25871Pro)
c.103655A>C (p.Gln34552Pro)
c.99053A>C (p.Gln33018Pro)
c.99050A>C (p.Gln33017Pro)
c.96092A>C (p.Gln32031Pro)
c.77708A>C (p.Gln25903Pro)
c.99203A>C (p.Gln33068Pro)
c.99200A>C (p.Gln33067Pro)
c.98633A>C (p.Gln32878Pro)
c.95975A>C (p.Gln31992Pro)
c.95894A>C (p.Gln31965Pro)
c.77657A>C (p.Gln25886Pro)
c.67511A>C (p.Gln22504Pro)
2g.178531854G>ACA349410983TTN,TTN-AS1c.97057C>T (p.Gln32353Ter)
c.78142C>T (p.Gln26048Ter)
c.77941C>T (p.Gln25981Ter)
c.77566C>T (p.Gln25856Ter)
c.104761C>T (p.Gln34921Ter)
c.99838C>T (p.Gln33280Ter)
n.446+8218G>A
n.220-3878G>A
c.103858C>T (p.Gln34620Ter)
c.77752C>T (p.Gln25918Ter)
c.77611C>T (p.Gln25871Ter)
c.103654C>T (p.Gln34552Ter)
c.99052C>T (p.Gln33018Ter)
c.99049C>T (p.Gln33017Ter)
c.96091C>T (p.Gln32031Ter)
c.77707C>T (p.Gln25903Ter)
c.99202C>T (p.Gln33068Ter)
c.99199C>T (p.Gln33067Ter)
c.98632C>T (p.Gln32878Ter)
c.95974C>T (p.Gln31992Ter)
c.95893C>T (p.Gln31965Ter)
c.77656C>T (p.Gln25886Ter)
c.67510C>T (p.Gln22504Ter)
2g.178531854G>CCA1985365TTN,TTN-AS1c.97057C>G (p.Gln32353Glu)
c.78142C>G (p.Gln26048Glu)
c.77941C>G (p.Gln25981Glu)
c.77566C>G (p.Gln25856Glu)
c.104761C>G (p.Gln34921Glu)
c.99838C>G (p.Gln33280Glu)
n.446+8218G>C
n.220-3878G>C
c.103858C>G (p.Gln34620Glu)
c.77752C>G (p.Gln25918Glu)
c.77611C>G (p.Gln25871Glu)
c.103654C>G (p.Gln34552Glu)
c.99052C>G (p.Gln33018Glu)
c.99049C>G (p.Gln33017Glu)
c.96091C>G (p.Gln32031Glu)
c.77707C>G (p.Gln25903Glu)
c.99202C>G (p.Gln33068Glu)
c.99199C>G (p.Gln33067Glu)
c.98632C>G (p.Gln32878Glu)
c.95974C>G (p.Gln31992Glu)
c.95893C>G (p.Gln31965Glu)
c.77656C>G (p.Gln25886Glu)
c.67510C>G (p.Gln22504Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178531854G=CA1310517952TTN,TTN-AS1c.97057C= (p.Gln32353=)
c.78142C= (p.Gln26048=)
c.77941C= (p.Gln25981=)
c.77566C= (p.Gln25856=)
c.104761C= (p.Gln34921=)
c.99838C= (p.Gln33280=)
n.446+8218G=
n.220-3878G=
c.103858C= (p.Gln34620=)
c.77752C= (p.Gln25918=)
c.77611C= (p.Gln25871=)
c.103654C= (p.Gln34552=)
c.99052C= (p.Gln33018=)
c.99049C= (p.Gln33017=)
c.96091C= (p.Gln32031=)
c.77707C= (p.Gln25903=)
c.99202C= (p.Gln33068=)
c.99199C= (p.Gln33067=)
c.98632C= (p.Gln32878=)
c.95974C= (p.Gln31992=)
c.95893C= (p.Gln31965=)
c.77656C= (p.Gln25886=)
c.67510C= (p.Gln22504=)
2g.178531854G>TCA349410984TTN,TTN-AS1c.97057C>A (p.Gln32353Lys)
c.78142C>A (p.Gln26048Lys)
c.77941C>A (p.Gln25981Lys)
c.77566C>A (p.Gln25856Lys)
c.104761C>A (p.Gln34921Lys)
c.99838C>A (p.Gln33280Lys)
n.446+8218G>T
n.220-3878G>T
c.103858C>A (p.Gln34620Lys)
c.77752C>A (p.Gln25918Lys)
c.77611C>A (p.Gln25871Lys)
c.103654C>A (p.Gln34552Lys)
c.99052C>A (p.Gln33018Lys)
c.99049C>A (p.Gln33017Lys)
c.96091C>A (p.Gln32031Lys)
c.77707C>A (p.Gln25903Lys)
c.99202C>A (p.Gln33068Lys)
c.99199C>A (p.Gln33067Lys)
c.98632C>A (p.Gln32878Lys)
c.95974C>A (p.Gln31992Lys)
c.95893C>A (p.Gln31965Lys)
c.77656C>A (p.Gln25886Lys)
c.67510C>A (p.Gln22504Lys)
 gnomAD v4
2g.178531855A>CCA430235495TTN,TTN-AS1c.97056T>G (p.Thr32352=)
c.78141T>G (p.Thr26047=)
c.77940T>G (p.Thr25980=)
c.77565T>G (p.Thr25855=)
c.104760T>G (p.Thr34920=)
c.99837T>G (p.Thr33279=)
n.446+8219A>C
n.220-3877A>C
c.103857T>G (p.Thr34619=)
c.77751T>G (p.Thr25917=)
c.77610T>G (p.Thr25870=)
c.103653T>G (p.Thr34551=)
c.99051T>G (p.Thr33017=)
c.99048T>G (p.Thr33016=)
c.96090T>G (p.Thr32030=)
c.77706T>G (p.Thr25902=)
c.99201T>G (p.Thr33067=)
c.99198T>G (p.Thr33066=)
c.98631T>G (p.Thr32877=)
c.95973T>G (p.Thr31991=)
c.95892T>G (p.Thr31964=)
c.77655T>G (p.Thr25885=)
c.67509T>G (p.Thr22503=)
2g.178531855A>GCA430235496TTN,TTN-AS1c.97056T>C (p.Thr32352=)
c.78141T>C (p.Thr26047=)
c.77940T>C (p.Thr25980=)
c.77565T>C (p.Thr25855=)
c.104760T>C (p.Thr34920=)
c.99837T>C (p.Thr33279=)
n.446+8219A>G
n.220-3877A>G
c.103857T>C (p.Thr34619=)
c.77751T>C (p.Thr25917=)
c.77610T>C (p.Thr25870=)
c.103653T>C (p.Thr34551=)
c.99051T>C (p.Thr33017=)
c.99048T>C (p.Thr33016=)
c.96090T>C (p.Thr32030=)
c.77706T>C (p.Thr25902=)
c.99201T>C (p.Thr33067=)
c.99198T>C (p.Thr33066=)
c.98631T>C (p.Thr32877=)
c.95973T>C (p.Thr31991=)
c.95892T>C (p.Thr31964=)
c.77655T>C (p.Thr25885=)
c.67509T>C (p.Thr22503=)
2g.178531855A>TCA430235497TTN,TTN-AS1c.97056T>A (p.Thr32352=)
c.78141T>A (p.Thr26047=)
c.77940T>A (p.Thr25980=)
c.77565T>A (p.Thr25855=)
c.104760T>A (p.Thr34920=)
c.99837T>A (p.Thr33279=)
n.446+8219A>T
n.220-3877A>T
c.103857T>A (p.Thr34619=)
c.77751T>A (p.Thr25917=)
c.77610T>A (p.Thr25870=)
c.103653T>A (p.Thr34551=)
c.99051T>A (p.Thr33017=)
c.99048T>A (p.Thr33016=)
c.96090T>A (p.Thr32030=)
c.77706T>A (p.Thr25902=)
c.99201T>A (p.Thr33067=)
c.99198T>A (p.Thr33066=)
c.98631T>A (p.Thr32877=)
c.95973T>A (p.Thr31991=)
c.95892T>A (p.Thr31964=)
c.77655T>A (p.Thr25885=)
c.67509T>A (p.Thr22503=)
2g.178531856G>ACA349410985TTN,TTN-AS1c.97055C>T (p.Thr32352Ile)
c.78140C>T (p.Thr26047Ile)
c.77939C>T (p.Thr25980Ile)
c.77564C>T (p.Thr25855Ile)
c.104759C>T (p.Thr34920Ile)
c.99836C>T (p.Thr33279Ile)
n.446+8220G>A
n.220-3876G>A
c.103856C>T (p.Thr34619Ile)
c.77750C>T (p.Thr25917Ile)
c.77609C>T (p.Thr25870Ile)
c.103652C>T (p.Thr34551Ile)
c.99050C>T (p.Thr33017Ile)
c.99047C>T (p.Thr33016Ile)
c.96089C>T (p.Thr32030Ile)
c.77705C>T (p.Thr25902Ile)
c.99200C>T (p.Thr33067Ile)
c.99197C>T (p.Thr33066Ile)
c.98630C>T (p.Thr32877Ile)
c.95972C>T (p.Thr31991Ile)
c.95891C>T (p.Thr31964Ile)
c.77654C>T (p.Thr25885Ile)
c.67508C>T (p.Thr22503Ile)
2g.178531856G>CCA349410986TTN,TTN-AS1c.97055C>G (p.Thr32352Ser)
c.78140C>G (p.Thr26047Ser)
c.77939C>G (p.Thr25980Ser)
c.77564C>G (p.Thr25855Ser)
c.104759C>G (p.Thr34920Ser)
c.99836C>G (p.Thr33279Ser)
n.446+8220G>C
n.220-3876G>C
c.103856C>G (p.Thr34619Ser)
c.77750C>G (p.Thr25917Ser)
c.77609C>G (p.Thr25870Ser)
c.103652C>G (p.Thr34551Ser)
c.99050C>G (p.Thr33017Ser)
c.99047C>G (p.Thr33016Ser)
c.96089C>G (p.Thr32030Ser)
c.77705C>G (p.Thr25902Ser)
c.99200C>G (p.Thr33067Ser)
c.99197C>G (p.Thr33066Ser)
c.98630C>G (p.Thr32877Ser)
c.95972C>G (p.Thr31991Ser)
c.95891C>G (p.Thr31964Ser)
c.77654C>G (p.Thr25885Ser)
c.67508C>G (p.Thr22503Ser)
2g.178531856G>TCA349410987TTN,TTN-AS1c.97055C>A (p.Thr32352Asn)
c.78140C>A (p.Thr26047Asn)
c.77939C>A (p.Thr25980Asn)
c.77564C>A (p.Thr25855Asn)
c.104759C>A (p.Thr34920Asn)
c.99836C>A (p.Thr33279Asn)
n.446+8220G>T
n.220-3876G>T
c.103856C>A (p.Thr34619Asn)
c.77750C>A (p.Thr25917Asn)
c.77609C>A (p.Thr25870Asn)
c.103652C>A (p.Thr34551Asn)
c.99050C>A (p.Thr33017Asn)
c.99047C>A (p.Thr33016Asn)
c.96089C>A (p.Thr32030Asn)
c.77705C>A (p.Thr25902Asn)
c.99200C>A (p.Thr33067Asn)
c.99197C>A (p.Thr33066Asn)
c.98630C>A (p.Thr32877Asn)
c.95972C>A (p.Thr31991Asn)
c.95891C>A (p.Thr31964Asn)
c.77654C>A (p.Thr25885Asn)
c.67508C>A (p.Thr22503Asn)
2g.178531857T>ACA349410988TTN,TTN-AS1c.97054A>T (p.Thr32352Ser)
c.78139A>T (p.Thr26047Ser)
c.77938A>T (p.Thr25980Ser)
c.77563A>T (p.Thr25855Ser)
c.104758A>T (p.Thr34920Ser)
c.99835A>T (p.Thr33279Ser)
n.446+8221T>A
n.220-3875T>A
c.103855A>T (p.Thr34619Ser)
c.77749A>T (p.Thr25917Ser)
c.77608A>T (p.Thr25870Ser)
c.103651A>T (p.Thr34551Ser)
c.99049A>T (p.Thr33017Ser)
c.99046A>T (p.Thr33016Ser)
c.96088A>T (p.Thr32030Ser)
c.77704A>T (p.Thr25902Ser)
c.99199A>T (p.Thr33067Ser)
c.99196A>T (p.Thr33066Ser)
c.98629A>T (p.Thr32877Ser)
c.95971A>T (p.Thr31991Ser)
c.95890A>T (p.Thr31964Ser)
c.77653A>T (p.Thr25885Ser)
c.67507A>T (p.Thr22503Ser)
 gnomAD v4
2g.178531857T>CCA349410989TTN,TTN-AS1c.97054A>G (p.Thr32352Ala)
c.78139A>G (p.Thr26047Ala)
c.77938A>G (p.Thr25980Ala)
c.77563A>G (p.Thr25855Ala)
c.104758A>G (p.Thr34920Ala)
c.99835A>G (p.Thr33279Ala)
n.446+8221T>C
n.220-3875T>C
c.103855A>G (p.Thr34619Ala)
c.77749A>G (p.Thr25917Ala)
c.77608A>G (p.Thr25870Ala)
c.103651A>G (p.Thr34551Ala)
c.99049A>G (p.Thr33017Ala)
c.99046A>G (p.Thr33016Ala)
c.96088A>G (p.Thr32030Ala)
c.77704A>G (p.Thr25902Ala)
c.99199A>G (p.Thr33067Ala)
c.99196A>G (p.Thr33066Ala)
c.98629A>G (p.Thr32877Ala)
c.95971A>G (p.Thr31991Ala)
c.95890A>G (p.Thr31964Ala)
c.77653A>G (p.Thr25885Ala)
c.67507A>G (p.Thr22503Ala)
2g.178531857T>GCA349410990TTN,TTN-AS1c.97054A>C (p.Thr32352Pro)
c.78139A>C (p.Thr26047Pro)
c.77938A>C (p.Thr25980Pro)
c.77563A>C (p.Thr25855Pro)
c.104758A>C (p.Thr34920Pro)
c.99835A>C (p.Thr33279Pro)
n.446+8221T>G
n.220-3875T>G
c.103855A>C (p.Thr34619Pro)
c.77749A>C (p.Thr25917Pro)
c.77608A>C (p.Thr25870Pro)
c.103651A>C (p.Thr34551Pro)
c.99049A>C (p.Thr33017Pro)
c.99046A>C (p.Thr33016Pro)
c.96088A>C (p.Thr32030Pro)
c.77704A>C (p.Thr25902Pro)
c.99199A>C (p.Thr33067Pro)
c.99196A>C (p.Thr33066Pro)
c.98629A>C (p.Thr32877Pro)
c.95971A>C (p.Thr31991Pro)
c.95890A>C (p.Thr31964Pro)
c.77653A>C (p.Thr25885Pro)
c.67507A>C (p.Thr22503Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178531857T=CA1310517953TTN,TTN-AS1c.97054A= (p.Thr32352=)
c.78139A= (p.Thr26047=)
c.77938A= (p.Thr25980=)
c.77563A= (p.Thr25855=)
c.104758A= (p.Thr34920=)
c.99835A= (p.Thr33279=)
n.446+8221T=
n.220-3875T=
c.103855A= (p.Thr34619=)
c.77749A= (p.Thr25917=)
c.77608A= (p.Thr25870=)
c.103651A= (p.Thr34551=)
c.99049A= (p.Thr33017=)
c.99046A= (p.Thr33016=)
c.96088A= (p.Thr32030=)
c.77704A= (p.Thr25902=)
c.99199A= (p.Thr33067=)
c.99196A= (p.Thr33066=)
c.98629A= (p.Thr32877=)
c.95971A= (p.Thr31991=)
c.95890A= (p.Thr31964=)
c.77653A= (p.Thr25885=)
c.67507A= (p.Thr22503=)
2g.178531858T>ACA349410992TTN,TTN-AS1c.97053A>T (p.Lys32351Asn)
c.78138A>T (p.Lys26046Asn)
c.77937A>T (p.Lys25979Asn)
c.77562A>T (p.Lys25854Asn)
c.104757A>T (p.Lys34919Asn)
c.99834A>T (p.Lys33278Asn)
n.446+8222T>A
n.220-3874T>A
c.103854A>T (p.Lys34618Asn)
c.77748A>T (p.Lys25916Asn)
c.77607A>T (p.Lys25869Asn)
c.103650A>T (p.Lys34550Asn)
c.99048A>T (p.Lys33016Asn)
c.99045A>T (p.Lys33015Asn)
c.96087A>T (p.Lys32029Asn)
c.77703A>T (p.Lys25901Asn)
c.99198A>T (p.Lys33066Asn)
c.99195A>T (p.Lys33065Asn)
c.98628A>T (p.Lys32876Asn)
c.95970A>T (p.Lys31990Asn)
c.95889A>T (p.Lys31963Asn)
c.77652A>T (p.Lys25884Asn)
c.67506A>T (p.Lys22502Asn)
2g.178531858T>CCA430235502TTN,TTN-AS1c.97053A>G (p.Lys32351=)
c.78138A>G (p.Lys26046=)
c.77937A>G (p.Lys25979=)
c.77562A>G (p.Lys25854=)
c.104757A>G (p.Lys34919=)
c.99834A>G (p.Lys33278=)
n.446+8222T>C
n.220-3874T>C
c.103854A>G (p.Lys34618=)
c.77748A>G (p.Lys25916=)
c.77607A>G (p.Lys25869=)
c.103650A>G (p.Lys34550=)
c.99048A>G (p.Lys33016=)
c.99045A>G (p.Lys33015=)
c.96087A>G (p.Lys32029=)
c.77703A>G (p.Lys25901=)
c.99198A>G (p.Lys33066=)
c.99195A>G (p.Lys33065=)
c.98628A>G (p.Lys32876=)
c.95970A>G (p.Lys31990=)
c.95889A>G (p.Lys31963=)
c.77652A>G (p.Lys25884=)
c.67506A>G (p.Lys22502=)
2g.178531858T>GCA349410991TTN,TTN-AS1c.97053A>C (p.Lys32351Asn)
c.78138A>C (p.Lys26046Asn)
c.77937A>C (p.Lys25979Asn)
c.77562A>C (p.Lys25854Asn)
c.104757A>C (p.Lys34919Asn)
c.99834A>C (p.Lys33278Asn)
n.446+8222T>G
n.220-3874T>G
c.103854A>C (p.Lys34618Asn)
c.77748A>C (p.Lys25916Asn)
c.77607A>C (p.Lys25869Asn)
c.103650A>C (p.Lys34550Asn)
c.99048A>C (p.Lys33016Asn)
c.99045A>C (p.Lys33015Asn)
c.96087A>C (p.Lys32029Asn)
c.77703A>C (p.Lys25901Asn)
c.99198A>C (p.Lys33066Asn)
c.99195A>C (p.Lys33065Asn)
c.98628A>C (p.Lys32876Asn)
c.95970A>C (p.Lys31990Asn)
c.95889A>C (p.Lys31963Asn)
c.77652A>C (p.Lys25884Asn)
c.67506A>C (p.Lys22502Asn)
2g.178531859T>ACA349410993TTN,TTN-AS1c.97052A>T (p.Lys32351Ile)
c.78137A>T (p.Lys26046Ile)
c.77936A>T (p.Lys25979Ile)
c.77561A>T (p.Lys25854Ile)
c.104756A>T (p.Lys34919Ile)
c.99833A>T (p.Lys33278Ile)
n.446+8223T>A
n.220-3873T>A
c.103853A>T (p.Lys34618Ile)
c.77747A>T (p.Lys25916Ile)
c.77606A>T (p.Lys25869Ile)
c.103649A>T (p.Lys34550Ile)
c.99047A>T (p.Lys33016Ile)
c.99044A>T (p.Lys33015Ile)
c.96086A>T (p.Lys32029Ile)
c.77702A>T (p.Lys25901Ile)
c.99197A>T (p.Lys33066Ile)
c.99194A>T (p.Lys33065Ile)
c.98627A>T (p.Lys32876Ile)
c.95969A>T (p.Lys31990Ile)
c.95888A>T (p.Lys31963Ile)
c.77651A>T (p.Lys25884Ile)
c.67505A>T (p.Lys22502Ile)
2g.178531859T>CCA349410994TTN,TTN-AS1c.97052A>G (p.Lys32351Arg)
c.78137A>G (p.Lys26046Arg)
c.77936A>G (p.Lys25979Arg)
c.77561A>G (p.Lys25854Arg)
c.104756A>G (p.Lys34919Arg)
c.99833A>G (p.Lys33278Arg)
n.446+8223T>C
n.220-3873T>C
c.103853A>G (p.Lys34618Arg)
c.77747A>G (p.Lys25916Arg)
c.77606A>G (p.Lys25869Arg)
c.103649A>G (p.Lys34550Arg)
c.99047A>G (p.Lys33016Arg)
c.99044A>G (p.Lys33015Arg)
c.96086A>G (p.Lys32029Arg)
c.77702A>G (p.Lys25901Arg)
c.99197A>G (p.Lys33066Arg)
c.99194A>G (p.Lys33065Arg)
c.98627A>G (p.Lys32876Arg)
c.95969A>G (p.Lys31990Arg)
c.95888A>G (p.Lys31963Arg)
c.77651A>G (p.Lys25884Arg)
c.67505A>G (p.Lys22502Arg)
2g.178531859T>GCA349410995TTN,TTN-AS1c.97052A>C (p.Lys32351Thr)
c.78137A>C (p.Lys26046Thr)
c.77936A>C (p.Lys25979Thr)
c.77561A>C (p.Lys25854Thr)
c.104756A>C (p.Lys34919Thr)
c.99833A>C (p.Lys33278Thr)
n.446+8223T>G
n.220-3873T>G
c.103853A>C (p.Lys34618Thr)
c.77747A>C (p.Lys25916Thr)
c.77606A>C (p.Lys25869Thr)
c.103649A>C (p.Lys34550Thr)
c.99047A>C (p.Lys33016Thr)
c.99044A>C (p.Lys33015Thr)
c.96086A>C (p.Lys32029Thr)
c.77702A>C (p.Lys25901Thr)
c.99197A>C (p.Lys33066Thr)
c.99194A>C (p.Lys33065Thr)
c.98627A>C (p.Lys32876Thr)
c.95969A>C (p.Lys31990Thr)
c.95888A>C (p.Lys31963Thr)
c.77651A>C (p.Lys25884Thr)
c.67505A>C (p.Lys22502Thr)
2g.178531860T>ACA349410996TTN,TTN-AS1c.97051A>T (p.Lys32351Ter)
c.78136A>T (p.Lys26046Ter)
c.77935A>T (p.Lys25979Ter)
c.77560A>T (p.Lys25854Ter)
c.104755A>T (p.Lys34919Ter)
c.99832A>T (p.Lys33278Ter)
n.446+8224T>A
n.220-3872T>A
c.103852A>T (p.Lys34618Ter)
c.77746A>T (p.Lys25916Ter)
c.77605A>T (p.Lys25869Ter)
c.103648A>T (p.Lys34550Ter)
c.99046A>T (p.Lys33016Ter)
c.99043A>T (p.Lys33015Ter)
c.96085A>T (p.Lys32029Ter)
c.77701A>T (p.Lys25901Ter)
c.99196A>T (p.Lys33066Ter)
c.99193A>T (p.Lys33065Ter)
c.98626A>T (p.Lys32876Ter)
c.95968A>T (p.Lys31990Ter)
c.95887A>T (p.Lys31963Ter)
c.77650A>T (p.Lys25884Ter)
c.67504A>T (p.Lys22502Ter)
2g.178531860T>CCA349410997TTN,TTN-AS1c.97051A>G (p.Lys32351Glu)
c.78136A>G (p.Lys26046Glu)
c.77935A>G (p.Lys25979Glu)
c.77560A>G (p.Lys25854Glu)
c.104755A>G (p.Lys34919Glu)
c.99832A>G (p.Lys33278Glu)
n.446+8224T>C
n.220-3872T>C
c.103852A>G (p.Lys34618Glu)
c.77746A>G (p.Lys25916Glu)
c.77605A>G (p.Lys25869Glu)
c.103648A>G (p.Lys34550Glu)
c.99046A>G (p.Lys33016Glu)
c.99043A>G (p.Lys33015Glu)
c.96085A>G (p.Lys32029Glu)
c.77701A>G (p.Lys25901Glu)
c.99196A>G (p.Lys33066Glu)
c.99193A>G (p.Lys33065Glu)
c.98626A>G (p.Lys32876Glu)
c.95968A>G (p.Lys31990Glu)
c.95887A>G (p.Lys31963Glu)
c.77650A>G (p.Lys25884Glu)
c.67504A>G (p.Lys22502Glu)
2g.178531860T>GCA349410998TTN,TTN-AS1c.97051A>C (p.Lys32351Gln)
c.78136A>C (p.Lys26046Gln)
c.77935A>C (p.Lys25979Gln)
c.77560A>C (p.Lys25854Gln)
c.104755A>C (p.Lys34919Gln)
c.99832A>C (p.Lys33278Gln)
n.446+8224T>G
n.220-3872T>G
c.103852A>C (p.Lys34618Gln)
c.77746A>C (p.Lys25916Gln)
c.77605A>C (p.Lys25869Gln)
c.103648A>C (p.Lys34550Gln)
c.99046A>C (p.Lys33016Gln)
c.99043A>C (p.Lys33015Gln)
c.96085A>C (p.Lys32029Gln)
c.77701A>C (p.Lys25901Gln)
c.99196A>C (p.Lys33066Gln)
c.99193A>C (p.Lys33065Gln)
c.98626A>C (p.Lys32876Gln)
c.95968A>C (p.Lys31990Gln)
c.95887A>C (p.Lys31963Gln)
c.77650A>C (p.Lys25884Gln)
c.67504A>C (p.Lys22502Gln)
2g.178531861T>ACA349410999TTN,TTN-AS1c.97050A>T (p.Leu32350Phe)
c.78135A>T (p.Leu26045Phe)
c.77934A>T (p.Leu25978Phe)
c.77559A>T (p.Leu25853Phe)
c.104754A>T (p.Leu34918Phe)
c.99831A>T (p.Leu33277Phe)
n.446+8225T>A
n.220-3871T>A
c.103851A>T (p.Leu34617Phe)
c.77745A>T (p.Leu25915Phe)
c.77604A>T (p.Leu25868Phe)
c.103647A>T (p.Leu34549Phe)
c.99045A>T (p.Leu33015Phe)
c.99042A>T (p.Leu33014Phe)
c.96084A>T (p.Leu32028Phe)
c.77700A>T (p.Leu25900Phe)
c.99195A>T (p.Leu33065Phe)
c.99192A>T (p.Leu33064Phe)
c.98625A>T (p.Leu32875Phe)
c.95967A>T (p.Leu31989Phe)
c.95886A>T (p.Leu31962Phe)
c.77649A>T (p.Leu25883Phe)
c.67503A>T (p.Leu22501Phe)
2g.178531861T>CCA430235504TTN,TTN-AS1c.97050A>G (p.Leu32350=)
c.78135A>G (p.Leu26045=)
c.77934A>G (p.Leu25978=)
c.77559A>G (p.Leu25853=)
c.104754A>G (p.Leu34918=)
c.99831A>G (p.Leu33277=)
n.446+8225T>C
n.220-3871T>C
c.103851A>G (p.Leu34617=)
c.77745A>G (p.Leu25915=)
c.77604A>G (p.Leu25868=)
c.103647A>G (p.Leu34549=)
c.99045A>G (p.Leu33015=)
c.99042A>G (p.Leu33014=)
c.96084A>G (p.Leu32028=)
c.77700A>G (p.Leu25900=)
c.99195A>G (p.Leu33065=)
c.99192A>G (p.Leu33064=)
c.98625A>G (p.Leu32875=)
c.95967A>G (p.Leu31989=)
c.95886A>G (p.Leu31962=)
c.77649A>G (p.Leu25883=)
c.67503A>G (p.Leu22501=)
2g.178531861T>GCA349411000TTN,TTN-AS1c.97050A>C (p.Leu32350Phe)
c.78135A>C (p.Leu26045Phe)
c.77934A>C (p.Leu25978Phe)
c.77559A>C (p.Leu25853Phe)
c.104754A>C (p.Leu34918Phe)
c.99831A>C (p.Leu33277Phe)
n.446+8225T>G
n.220-3871T>G
c.103851A>C (p.Leu34617Phe)
c.77745A>C (p.Leu25915Phe)
c.77604A>C (p.Leu25868Phe)
c.103647A>C (p.Leu34549Phe)
c.99045A>C (p.Leu33015Phe)
c.99042A>C (p.Leu33014Phe)
c.96084A>C (p.Leu32028Phe)
c.77700A>C (p.Leu25900Phe)
c.99195A>C (p.Leu33065Phe)
c.99192A>C (p.Leu33064Phe)
c.98625A>C (p.Leu32875Phe)
c.95967A>C (p.Leu31989Phe)
c.95886A>C (p.Leu31962Phe)
c.77649A>C (p.Leu25883Phe)
c.67503A>C (p.Leu22501Phe)
2g.178531862A>CCA349411001TTN,TTN-AS1c.97049T>G (p.Leu32350Ter)
c.78134T>G (p.Leu26045Ter)
c.77933T>G (p.Leu25978Ter)
c.77558T>G (p.Leu25853Ter)
c.104753T>G (p.Leu34918Ter)
c.99830T>G (p.Leu33277Ter)
n.446+8226A>C
n.220-3870A>C
c.103850T>G (p.Leu34617Ter)
c.77744T>G (p.Leu25915Ter)
c.77603T>G (p.Leu25868Ter)
c.103646T>G (p.Leu34549Ter)
c.99044T>G (p.Leu33015Ter)
c.99041T>G (p.Leu33014Ter)
c.96083T>G (p.Leu32028Ter)
c.77699T>G (p.Leu25900Ter)
c.99194T>G (p.Leu33065Ter)
c.99191T>G (p.Leu33064Ter)
c.98624T>G (p.Leu32875Ter)
c.95966T>G (p.Leu31989Ter)
c.95885T>G (p.Leu31962Ter)
c.77648T>G (p.Leu25883Ter)
c.67502T>G (p.Leu22501Ter)
2g.178531862A>GCA349411002TTN,TTN-AS1c.97049T>C (p.Leu32350Ser)
c.78134T>C (p.Leu26045Ser)
c.77933T>C (p.Leu25978Ser)
c.77558T>C (p.Leu25853Ser)
c.104753T>C (p.Leu34918Ser)
c.99830T>C (p.Leu33277Ser)
n.446+8226A>G
n.220-3870A>G
c.103850T>C (p.Leu34617Ser)
c.77744T>C (p.Leu25915Ser)
c.77603T>C (p.Leu25868Ser)
c.103646T>C (p.Leu34549Ser)
c.99044T>C (p.Leu33015Ser)
c.99041T>C (p.Leu33014Ser)
c.96083T>C (p.Leu32028Ser)
c.77699T>C (p.Leu25900Ser)
c.99194T>C (p.Leu33065Ser)
c.99191T>C (p.Leu33064Ser)
c.98624T>C (p.Leu32875Ser)
c.95966T>C (p.Leu31989Ser)
c.95885T>C (p.Leu31962Ser)
c.77648T>C (p.Leu25883Ser)
c.67502T>C (p.Leu22501Ser)
2g.178531862A>TCA349411003TTN,TTN-AS1c.97049T>A (p.Leu32350Ter)
c.78134T>A (p.Leu26045Ter)
c.77933T>A (p.Leu25978Ter)
c.77558T>A (p.Leu25853Ter)
c.104753T>A (p.Leu34918Ter)
c.99830T>A (p.Leu33277Ter)
n.446+8226A>T
n.220-3870A>T
c.103850T>A (p.Leu34617Ter)
c.77744T>A (p.Leu25915Ter)
c.77603T>A (p.Leu25868Ter)
c.103646T>A (p.Leu34549Ter)
c.99044T>A (p.Leu33015Ter)
c.99041T>A (p.Leu33014Ter)
c.96083T>A (p.Leu32028Ter)
c.77699T>A (p.Leu25900Ter)
c.99194T>A (p.Leu33065Ter)
c.99191T>A (p.Leu33064Ter)
c.98624T>A (p.Leu32875Ter)
c.95966T>A (p.Leu31989Ter)
c.95885T>A (p.Leu31962Ter)
c.77648T>A (p.Leu25883Ter)
c.67502T>A (p.Leu22501Ter)
 ClinVar
2g.178531863A>CCA349411004TTN,TTN-AS1c.97048T>G (p.Leu32350Val)
c.78133T>G (p.Leu26045Val)
c.77932T>G (p.Leu25978Val)
c.77557T>G (p.Leu25853Val)
c.104752T>G (p.Leu34918Val)
c.99829T>G (p.Leu33277Val)
n.446+8227A>C
n.220-3869A>C
c.103849T>G (p.Leu34617Val)
c.77743T>G (p.Leu25915Val)
c.77602T>G (p.Leu25868Val)
c.103645T>G (p.Leu34549Val)
c.99043T>G (p.Leu33015Val)
c.99040T>G (p.Leu33014Val)
c.96082T>G (p.Leu32028Val)
c.77698T>G (p.Leu25900Val)
c.99193T>G (p.Leu33065Val)
c.99190T>G (p.Leu33064Val)
c.98623T>G (p.Leu32875Val)
c.95965T>G (p.Leu31989Val)
c.95884T>G (p.Leu31962Val)
c.77647T>G (p.Leu25883Val)
c.67501T>G (p.Leu22501Val)
2g.178531863A>GCA430235507TTN,TTN-AS1c.97048T>C (p.Leu32350=)
c.78133T>C (p.Leu26045=)
c.77932T>C (p.Leu25978=)
c.77557T>C (p.Leu25853=)
c.104752T>C (p.Leu34918=)
c.99829T>C (p.Leu33277=)
n.446+8227A>G
n.220-3869A>G
c.103849T>C (p.Leu34617=)
c.77743T>C (p.Leu25915=)
c.77602T>C (p.Leu25868=)
c.103645T>C (p.Leu34549=)
c.99043T>C (p.Leu33015=)
c.99040T>C (p.Leu33014=)
c.96082T>C (p.Leu32028=)
c.77698T>C (p.Leu25900=)
c.99193T>C (p.Leu33065=)
c.99190T>C (p.Leu33064=)
c.98623T>C (p.Leu32875=)
c.95965T>C (p.Leu31989=)
c.95884T>C (p.Leu31962=)
c.77647T>C (p.Leu25883=)
c.67501T>C (p.Leu22501=)
2g.178531863A>TCA349411005TTN,TTN-AS1c.97048T>A (p.Leu32350Ile)
c.78133T>A (p.Leu26045Ile)
c.77932T>A (p.Leu25978Ile)
c.77557T>A (p.Leu25853Ile)
c.104752T>A (p.Leu34918Ile)
c.99829T>A (p.Leu33277Ile)
n.446+8227A>T
n.220-3869A>T
c.103849T>A (p.Leu34617Ile)
c.77743T>A (p.Leu25915Ile)
c.77602T>A (p.Leu25868Ile)
c.103645T>A (p.Leu34549Ile)
c.99043T>A (p.Leu33015Ile)
c.99040T>A (p.Leu33014Ile)
c.96082T>A (p.Leu32028Ile)
c.77698T>A (p.Leu25900Ile)
c.99193T>A (p.Leu33065Ile)
c.99190T>A (p.Leu33064Ile)
c.98623T>A (p.Leu32875Ile)
c.95965T>A (p.Leu31989Ile)
c.95884T>A (p.Leu31962Ile)
c.77647T>A (p.Leu25883Ile)
c.67501T>A (p.Leu22501Ile)
2g.178531864A>CCA430235508TTN,TTN-AS1c.97047T>G (p.Ala32349=)
c.78132T>G (p.Ala26044=)
c.77931T>G (p.Ala25977=)
c.77556T>G (p.Ala25852=)
c.104751T>G (p.Ala34917=)
c.99828T>G (p.Ala33276=)
n.446+8228A>C
n.220-3868A>C
c.103848T>G (p.Ala34616=)
c.77742T>G (p.Ala25914=)
c.77601T>G (p.Ala25867=)
c.103644T>G (p.Ala34548=)
c.99042T>G (p.Ala33014=)
c.99039T>G (p.Ala33013=)
c.96081T>G (p.Ala32027=)
c.77697T>G (p.Ala25899=)
c.99192T>G (p.Ala33064=)
c.99189T>G (p.Ala33063=)
c.98622T>G (p.Ala32874=)
c.95964T>G (p.Ala31988=)
c.95883T>G (p.Ala31961=)
c.77646T>G (p.Ala25882=)
c.67500T>G (p.Ala22500=)
 ClinVar dbSNP
2g.178531864A>GCA430235509TTN,TTN-AS1c.97047T>C (p.Ala32349=)
c.78132T>C (p.Ala26044=)
c.77931T>C (p.Ala25977=)
c.77556T>C (p.Ala25852=)
c.104751T>C (p.Ala34917=)
c.99828T>C (p.Ala33276=)
n.446+8228A>G
n.220-3868A>G
c.103848T>C (p.Ala34616=)
c.77742T>C (p.Ala25914=)
c.77601T>C (p.Ala25867=)
c.103644T>C (p.Ala34548=)
c.99042T>C (p.Ala33014=)
c.99039T>C (p.Ala33013=)
c.96081T>C (p.Ala32027=)
c.77697T>C (p.Ala25899=)
c.99192T>C (p.Ala33064=)
c.99189T>C (p.Ala33063=)
c.98622T>C (p.Ala32874=)
c.95964T>C (p.Ala31988=)
c.95883T>C (p.Ala31961=)
c.77646T>C (p.Ala25882=)
c.67500T>C (p.Ala22500=)
 ClinVar
2g.178531864A>TCA430235510TTN,TTN-AS1c.97047T>A (p.Ala32349=)
c.78132T>A (p.Ala26044=)
c.77931T>A (p.Ala25977=)
c.77556T>A (p.Ala25852=)
c.104751T>A (p.Ala34917=)
c.99828T>A (p.Ala33276=)
n.446+8228A>T
n.220-3868A>T
c.103848T>A (p.Ala34616=)
c.77742T>A (p.Ala25914=)
c.77601T>A (p.Ala25867=)
c.103644T>A (p.Ala34548=)
c.99042T>A (p.Ala33014=)
c.99039T>A (p.Ala33013=)
c.96081T>A (p.Ala32027=)
c.77697T>A (p.Ala25899=)
c.99192T>A (p.Ala33064=)
c.99189T>A (p.Ala33063=)
c.98622T>A (p.Ala32874=)
c.95964T>A (p.Ala31988=)
c.95883T>A (p.Ala31961=)
c.77646T>A (p.Ala25882=)
c.67500T>A (p.Ala22500=)

Number of alleles fetched