Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178569874A=CA1310530781TTN,TTN-AS1c.68554T= (p.Ser22852=)
c.49639T= (p.Ser16547=)
c.49438T= (p.Ser16480=)
c.49063T= (p.Ser16355=)
c.76258T= (p.Ser25420=)
c.71335T= (p.Ser23779=)
n.447-1426A=
n.2044-12698A=
c.75355T= (p.Ser25119=)
c.49249T= (p.Ser16417=)
c.49108T= (p.Ser16370=)
c.75151T= (p.Ser25051=)
c.70549T= (p.Ser23517=)
c.70546T= (p.Ser23516=)
c.67588T= (p.Ser22530=)
c.49204T= (p.Ser16402=)
c.70699T= (p.Ser23567=)
c.70696T= (p.Ser23566=)
c.70129T= (p.Ser23377=)
c.67471T= (p.Ser22491=)
c.67390T= (p.Ser22464=)
c.49153T= (p.Ser16385=)
c.39007T= (p.Ser13003=)
2g.178569874A>CCA349616261TTN,TTN-AS1c.68554T>G (p.Ser22852Ala)
c.49639T>G (p.Ser16547Ala)
c.49438T>G (p.Ser16480Ala)
c.49063T>G (p.Ser16355Ala)
c.76258T>G (p.Ser25420Ala)
c.71335T>G (p.Ser23779Ala)
n.447-1426A>C
n.2044-12698A>C
c.75355T>G (p.Ser25119Ala)
c.49249T>G (p.Ser16417Ala)
c.49108T>G (p.Ser16370Ala)
c.75151T>G (p.Ser25051Ala)
c.70549T>G (p.Ser23517Ala)
c.70546T>G (p.Ser23516Ala)
c.67588T>G (p.Ser22530Ala)
c.49204T>G (p.Ser16402Ala)
c.70699T>G (p.Ser23567Ala)
c.70696T>G (p.Ser23566Ala)
c.70129T>G (p.Ser23377Ala)
c.67471T>G (p.Ser22491Ala)
c.67390T>G (p.Ser22464Ala)
c.49153T>G (p.Ser16385Ala)
c.39007T>G (p.Ser13003Ala)
2g.178569874A>GCA349616264TTN,TTN-AS1c.68554T>C (p.Ser22852Pro)
c.49639T>C (p.Ser16547Pro)
c.49438T>C (p.Ser16480Pro)
c.49063T>C (p.Ser16355Pro)
c.76258T>C (p.Ser25420Pro)
c.71335T>C (p.Ser23779Pro)
n.447-1426A>G
n.2044-12698A>G
c.75355T>C (p.Ser25119Pro)
c.49249T>C (p.Ser16417Pro)
c.49108T>C (p.Ser16370Pro)
c.75151T>C (p.Ser25051Pro)
c.70549T>C (p.Ser23517Pro)
c.70546T>C (p.Ser23516Pro)
c.67588T>C (p.Ser22530Pro)
c.49204T>C (p.Ser16402Pro)
c.70699T>C (p.Ser23567Pro)
c.70696T>C (p.Ser23566Pro)
c.70129T>C (p.Ser23377Pro)
c.67471T>C (p.Ser22491Pro)
c.67390T>C (p.Ser22464Pro)
c.49153T>C (p.Ser16385Pro)
c.39007T>C (p.Ser13003Pro)
 dbSNP
2g.178569874A>TCA349616266TTN,TTN-AS1c.68554T>A (p.Ser22852Thr)
c.49639T>A (p.Ser16547Thr)
c.49438T>A (p.Ser16480Thr)
c.49063T>A (p.Ser16355Thr)
c.76258T>A (p.Ser25420Thr)
c.71335T>A (p.Ser23779Thr)
n.447-1426A>T
n.2044-12698A>T
c.75355T>A (p.Ser25119Thr)
c.49249T>A (p.Ser16417Thr)
c.49108T>A (p.Ser16370Thr)
c.75151T>A (p.Ser25051Thr)
c.70549T>A (p.Ser23517Thr)
c.70546T>A (p.Ser23516Thr)
c.67588T>A (p.Ser22530Thr)
c.49204T>A (p.Ser16402Thr)
c.70699T>A (p.Ser23567Thr)
c.70696T>A (p.Ser23566Thr)
c.70129T>A (p.Ser23377Thr)
c.67471T>A (p.Ser22491Thr)
c.67390T>A (p.Ser22464Thr)
c.49153T>A (p.Ser16385Thr)
c.39007T>A (p.Ser13003Thr)
2g.178569875T>ACA349616268TTN,TTN-AS1c.68553A>T (p.Arg22851Ser)
c.49638A>T (p.Arg16546Ser)
c.49437A>T (p.Arg16479Ser)
c.49062A>T (p.Arg16354Ser)
c.76257A>T (p.Arg25419Ser)
c.71334A>T (p.Arg23778Ser)
n.447-1425T>A
n.2044-12697T>A
c.75354A>T (p.Arg25118Ser)
c.49248A>T (p.Arg16416Ser)
c.49107A>T (p.Arg16369Ser)
c.75150A>T (p.Arg25050Ser)
c.70548A>T (p.Arg23516Ser)
c.70545A>T (p.Arg23515Ser)
c.67587A>T (p.Arg22529Ser)
c.49203A>T (p.Arg16401Ser)
c.70698A>T (p.Arg23566Ser)
c.70695A>T (p.Arg23565Ser)
c.70128A>T (p.Arg23376Ser)
c.67470A>T (p.Arg22490Ser)
c.67389A>T (p.Arg22463Ser)
c.49152A>T (p.Arg16384Ser)
c.39006A>T (p.Arg13002Ser)
2g.178569875T>CCA430254407TTN,TTN-AS1c.68553A>G (p.Arg22851=)
c.49638A>G (p.Arg16546=)
c.49437A>G (p.Arg16479=)
c.49062A>G (p.Arg16354=)
c.76257A>G (p.Arg25419=)
c.71334A>G (p.Arg23778=)
n.447-1425T>C
n.2044-12697T>C
c.75354A>G (p.Arg25118=)
c.49248A>G (p.Arg16416=)
c.49107A>G (p.Arg16369=)
c.75150A>G (p.Arg25050=)
c.70548A>G (p.Arg23516=)
c.70545A>G (p.Arg23515=)
c.67587A>G (p.Arg22529=)
c.49203A>G (p.Arg16401=)
c.70698A>G (p.Arg23566=)
c.70695A>G (p.Arg23565=)
c.70128A>G (p.Arg23376=)
c.67470A>G (p.Arg22490=)
c.67389A>G (p.Arg22463=)
c.49152A>G (p.Arg16384=)
c.39006A>G (p.Arg13002=)
2g.178569875T>GCA349616271TTN,TTN-AS1c.68553A>C (p.Arg22851Ser)
c.49638A>C (p.Arg16546Ser)
c.49437A>C (p.Arg16479Ser)
c.49062A>C (p.Arg16354Ser)
c.76257A>C (p.Arg25419Ser)
c.71334A>C (p.Arg23778Ser)
n.447-1425T>G
n.2044-12697T>G
c.75354A>C (p.Arg25118Ser)
c.49248A>C (p.Arg16416Ser)
c.49107A>C (p.Arg16369Ser)
c.75150A>C (p.Arg25050Ser)
c.70548A>C (p.Arg23516Ser)
c.70545A>C (p.Arg23515Ser)
c.67587A>C (p.Arg22529Ser)
c.49203A>C (p.Arg16401Ser)
c.70698A>C (p.Arg23566Ser)
c.70695A>C (p.Arg23565Ser)
c.70128A>C (p.Arg23376Ser)
c.67470A>C (p.Arg22490Ser)
c.67389A>C (p.Arg22463Ser)
c.49152A>C (p.Arg16384Ser)
c.39006A>C (p.Arg13002Ser)
2g.178569876C>ACA349616274TTN,TTN-AS1c.68552G>T (p.Arg22851Ile)
c.49637G>T (p.Arg16546Ile)
c.49436G>T (p.Arg16479Ile)
c.49061G>T (p.Arg16354Ile)
c.76256G>T (p.Arg25419Ile)
c.71333G>T (p.Arg23778Ile)
n.447-1424C>A
n.2044-12696C>A
c.75353G>T (p.Arg25118Ile)
c.49247G>T (p.Arg16416Ile)
c.49106G>T (p.Arg16369Ile)
c.75149G>T (p.Arg25050Ile)
c.70547G>T (p.Arg23516Ile)
c.70544G>T (p.Arg23515Ile)
c.67586G>T (p.Arg22529Ile)
c.49202G>T (p.Arg16401Ile)
c.70697G>T (p.Arg23566Ile)
c.70694G>T (p.Arg23565Ile)
c.70127G>T (p.Arg23376Ile)
c.67469G>T (p.Arg22490Ile)
c.67388G>T (p.Arg22463Ile)
c.49151G>T (p.Arg16384Ile)
c.39005G>T (p.Arg13002Ile)
2g.178569876C=CA1310530783TTN,TTN-AS1c.68552G= (p.Arg22851=)
c.49637G= (p.Arg16546=)
c.49436G= (p.Arg16479=)
c.49061G= (p.Arg16354=)
c.76256G= (p.Arg25419=)
c.71333G= (p.Arg23778=)
n.447-1424C=
n.2044-12696C=
c.75353G= (p.Arg25118=)
c.49247G= (p.Arg16416=)
c.49106G= (p.Arg16369=)
c.75149G= (p.Arg25050=)
c.70547G= (p.Arg23516=)
c.70544G= (p.Arg23515=)
c.67586G= (p.Arg22529=)
c.49202G= (p.Arg16401=)
c.70697G= (p.Arg23566=)
c.70694G= (p.Arg23565=)
c.70127G= (p.Arg23376=)
c.67469G= (p.Arg22490=)
c.67388G= (p.Arg22463=)
c.49151G= (p.Arg16384=)
c.39005G= (p.Arg13002=)
2g.178569876C>GCA349616276TTN,TTN-AS1c.68552G>C (p.Arg22851Thr)
c.49637G>C (p.Arg16546Thr)
c.49436G>C (p.Arg16479Thr)
c.49061G>C (p.Arg16354Thr)
c.76256G>C (p.Arg25419Thr)
c.71333G>C (p.Arg23778Thr)
n.447-1424C>G
n.2044-12696C>G
c.75353G>C (p.Arg25118Thr)
c.49247G>C (p.Arg16416Thr)
c.49106G>C (p.Arg16369Thr)
c.75149G>C (p.Arg25050Thr)
c.70547G>C (p.Arg23516Thr)
c.70544G>C (p.Arg23515Thr)
c.67586G>C (p.Arg22529Thr)
c.49202G>C (p.Arg16401Thr)
c.70697G>C (p.Arg23566Thr)
c.70694G>C (p.Arg23565Thr)
c.70127G>C (p.Arg23376Thr)
c.67469G>C (p.Arg22490Thr)
c.67388G>C (p.Arg22463Thr)
c.49151G>C (p.Arg16384Thr)
c.39005G>C (p.Arg13002Thr)
2g.178569876C>TCA349616278TTN,TTN-AS1c.68552G>A (p.Arg22851Lys)
c.49637G>A (p.Arg16546Lys)
c.49436G>A (p.Arg16479Lys)
c.49061G>A (p.Arg16354Lys)
c.76256G>A (p.Arg25419Lys)
c.71333G>A (p.Arg23778Lys)
n.447-1424C>T
n.2044-12696C>T
c.75353G>A (p.Arg25118Lys)
c.49247G>A (p.Arg16416Lys)
c.49106G>A (p.Arg16369Lys)
c.75149G>A (p.Arg25050Lys)
c.70547G>A (p.Arg23516Lys)
c.70544G>A (p.Arg23515Lys)
c.67586G>A (p.Arg22529Lys)
c.49202G>A (p.Arg16401Lys)
c.70697G>A (p.Arg23566Lys)
c.70694G>A (p.Arg23565Lys)
c.70127G>A (p.Arg23376Lys)
c.67469G>A (p.Arg22490Lys)
c.67388G>A (p.Arg22463Lys)
c.49151G>A (p.Arg16384Lys)
c.39005G>A (p.Arg13002Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.178569877T>ACA349616281TTN,TTN-AS1c.68551A>T (p.Arg22851Ter)
c.49636A>T (p.Arg16546Ter)
c.49435A>T (p.Arg16479Ter)
c.49060A>T (p.Arg16354Ter)
c.76255A>T (p.Arg25419Ter)
c.71332A>T (p.Arg23778Ter)
n.447-1423T>A
n.2044-12695T>A
c.75352A>T (p.Arg25118Ter)
c.49246A>T (p.Arg16416Ter)
c.49105A>T (p.Arg16369Ter)
c.75148A>T (p.Arg25050Ter)
c.70546A>T (p.Arg23516Ter)
c.70543A>T (p.Arg23515Ter)
c.67585A>T (p.Arg22529Ter)
c.49201A>T (p.Arg16401Ter)
c.70696A>T (p.Arg23566Ter)
c.70693A>T (p.Arg23565Ter)
c.70126A>T (p.Arg23376Ter)
c.67468A>T (p.Arg22490Ter)
c.67387A>T (p.Arg22463Ter)
c.49150A>T (p.Arg16384Ter)
c.39004A>T (p.Arg13002Ter)
2g.178569877T>CCA349616283TTN,TTN-AS1c.68551A>G (p.Arg22851Gly)
c.49636A>G (p.Arg16546Gly)
c.49435A>G (p.Arg16479Gly)
c.49060A>G (p.Arg16354Gly)
c.76255A>G (p.Arg25419Gly)
c.71332A>G (p.Arg23778Gly)
n.447-1423T>C
n.2044-12695T>C
c.75352A>G (p.Arg25118Gly)
c.49246A>G (p.Arg16416Gly)
c.49105A>G (p.Arg16369Gly)
c.75148A>G (p.Arg25050Gly)
c.70546A>G (p.Arg23516Gly)
c.70543A>G (p.Arg23515Gly)
c.67585A>G (p.Arg22529Gly)
c.49201A>G (p.Arg16401Gly)
c.70696A>G (p.Arg23566Gly)
c.70693A>G (p.Arg23565Gly)
c.70126A>G (p.Arg23376Gly)
c.67468A>G (p.Arg22490Gly)
c.67387A>G (p.Arg22463Gly)
c.49150A>G (p.Arg16384Gly)
c.39004A>G (p.Arg13002Gly)
2g.178569877T>GCA430254410TTN,TTN-AS1c.68551A>C (p.Arg22851=)
c.49636A>C (p.Arg16546=)
c.49435A>C (p.Arg16479=)
c.49060A>C (p.Arg16354=)
c.76255A>C (p.Arg25419=)
c.71332A>C (p.Arg23778=)
n.447-1423T>G
n.2044-12695T>G
c.75352A>C (p.Arg25118=)
c.49246A>C (p.Arg16416=)
c.49105A>C (p.Arg16369=)
c.75148A>C (p.Arg25050=)
c.70546A>C (p.Arg23516=)
c.70543A>C (p.Arg23515=)
c.67585A>C (p.Arg22529=)
c.49201A>C (p.Arg16401=)
c.70696A>C (p.Arg23566=)
c.70693A>C (p.Arg23565=)
c.70126A>C (p.Arg23376=)
c.67468A>C (p.Arg22490=)
c.67387A>C (p.Arg22463=)
c.49150A>C (p.Arg16384=)
c.39004A>C (p.Arg13002=)
 gnomAD v4
2g.178569878G>ACA430254413TTN,TTN-AS1c.68550C>T (p.Thr22850=)
c.49635C>T (p.Thr16545=)
c.49434C>T (p.Thr16478=)
c.49059C>T (p.Thr16353=)
c.76254C>T (p.Thr25418=)
c.71331C>T (p.Thr23777=)
n.447-1422G>A
n.2044-12694G>A
c.75351C>T (p.Thr25117=)
c.49245C>T (p.Thr16415=)
c.49104C>T (p.Thr16368=)
c.75147C>T (p.Thr25049=)
c.70545C>T (p.Thr23515=)
c.70542C>T (p.Thr23514=)
c.67584C>T (p.Thr22528=)
c.49200C>T (p.Thr16400=)
c.70695C>T (p.Thr23565=)
c.70692C>T (p.Thr23564=)
c.70125C>T (p.Thr23375=)
c.67467C>T (p.Thr22489=)
c.67386C>T (p.Thr22462=)
c.49149C>T (p.Thr16383=)
c.39003C>T (p.Thr13001=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178569878G>CCA430254411TTN,TTN-AS1c.68550C>G (p.Thr22850=)
c.49635C>G (p.Thr16545=)
c.49434C>G (p.Thr16478=)
c.49059C>G (p.Thr16353=)
c.76254C>G (p.Thr25418=)
c.71331C>G (p.Thr23777=)
n.447-1422G>C
n.2044-12694G>C
c.75351C>G (p.Thr25117=)
c.49245C>G (p.Thr16415=)
c.49104C>G (p.Thr16368=)
c.75147C>G (p.Thr25049=)
c.70545C>G (p.Thr23515=)
c.70542C>G (p.Thr23514=)
c.67584C>G (p.Thr22528=)
c.49200C>G (p.Thr16400=)
c.70695C>G (p.Thr23565=)
c.70692C>G (p.Thr23564=)
c.70125C>G (p.Thr23375=)
c.67467C>G (p.Thr22489=)
c.67386C>G (p.Thr22462=)
c.49149C>G (p.Thr16383=)
c.39003C>G (p.Thr13001=)
 gnomAD v4
2g.178569878G=CA1310530784TTN,TTN-AS1c.68550C= (p.Thr22850=)
c.49635C= (p.Thr16545=)
c.49434C= (p.Thr16478=)
c.49059C= (p.Thr16353=)
c.76254C= (p.Thr25418=)
c.71331C= (p.Thr23777=)
n.447-1422G=
n.2044-12694G=
c.75351C= (p.Thr25117=)
c.49245C= (p.Thr16415=)
c.49104C= (p.Thr16368=)
c.75147C= (p.Thr25049=)
c.70545C= (p.Thr23515=)
c.70542C= (p.Thr23514=)
c.67584C= (p.Thr22528=)
c.49200C= (p.Thr16400=)
c.70695C= (p.Thr23565=)
c.70692C= (p.Thr23564=)
c.70125C= (p.Thr23375=)
c.67467C= (p.Thr22489=)
c.67386C= (p.Thr22462=)
c.49149C= (p.Thr16383=)
c.39003C= (p.Thr13001=)
2g.178569878G>TCA430254412TTN,TTN-AS1c.68550C>A (p.Thr22850=)
c.49635C>A (p.Thr16545=)
c.49434C>A (p.Thr16478=)
c.49059C>A (p.Thr16353=)
c.76254C>A (p.Thr25418=)
c.71331C>A (p.Thr23777=)
n.447-1422G>T
n.2044-12694G>T
c.75351C>A (p.Thr25117=)
c.49245C>A (p.Thr16415=)
c.49104C>A (p.Thr16368=)
c.75147C>A (p.Thr25049=)
c.70545C>A (p.Thr23515=)
c.70542C>A (p.Thr23514=)
c.67584C>A (p.Thr22528=)
c.49200C>A (p.Thr16400=)
c.70695C>A (p.Thr23565=)
c.70692C>A (p.Thr23564=)
c.70125C>A (p.Thr23375=)
c.67467C>A (p.Thr22489=)
c.67386C>A (p.Thr22462=)
c.49149C>A (p.Thr16383=)
c.39003C>A (p.Thr13001=)
2g.178569879G>ACA349616290TTN,TTN-AS1c.68549C>T (p.Thr22850Ile)
c.49634C>T (p.Thr16545Ile)
c.49433C>T (p.Thr16478Ile)
c.49058C>T (p.Thr16353Ile)
c.76253C>T (p.Thr25418Ile)
c.71330C>T (p.Thr23777Ile)
n.447-1421G>A
n.2044-12693G>A
c.75350C>T (p.Thr25117Ile)
c.49244C>T (p.Thr16415Ile)
c.49103C>T (p.Thr16368Ile)
c.75146C>T (p.Thr25049Ile)
c.70544C>T (p.Thr23515Ile)
c.70541C>T (p.Thr23514Ile)
c.67583C>T (p.Thr22528Ile)
c.49199C>T (p.Thr16400Ile)
c.70694C>T (p.Thr23565Ile)
c.70691C>T (p.Thr23564Ile)
c.70124C>T (p.Thr23375Ile)
c.67466C>T (p.Thr22489Ile)
c.67385C>T (p.Thr22462Ile)
c.49148C>T (p.Thr16383Ile)
c.39002C>T (p.Thr13001Ile)
2g.178569879G>CCA349616293TTN,TTN-AS1c.68549C>G (p.Thr22850Ser)
c.49634C>G (p.Thr16545Ser)
c.49433C>G (p.Thr16478Ser)
c.49058C>G (p.Thr16353Ser)
c.76253C>G (p.Thr25418Ser)
c.71330C>G (p.Thr23777Ser)
n.447-1421G>C
n.2044-12693G>C
c.75350C>G (p.Thr25117Ser)
c.49244C>G (p.Thr16415Ser)
c.49103C>G (p.Thr16368Ser)
c.75146C>G (p.Thr25049Ser)
c.70544C>G (p.Thr23515Ser)
c.70541C>G (p.Thr23514Ser)
c.67583C>G (p.Thr22528Ser)
c.49199C>G (p.Thr16400Ser)
c.70694C>G (p.Thr23565Ser)
c.70691C>G (p.Thr23564Ser)
c.70124C>G (p.Thr23375Ser)
c.67466C>G (p.Thr22489Ser)
c.67385C>G (p.Thr22462Ser)
c.49148C>G (p.Thr16383Ser)
c.39002C>G (p.Thr13001Ser)
2g.178569879G>TCA349616288TTN,TTN-AS1c.68549C>A (p.Thr22850Asn)
c.49634C>A (p.Thr16545Asn)
c.49433C>A (p.Thr16478Asn)
c.49058C>A (p.Thr16353Asn)
c.76253C>A (p.Thr25418Asn)
c.71330C>A (p.Thr23777Asn)
n.447-1421G>T
n.2044-12693G>T
c.75350C>A (p.Thr25117Asn)
c.49244C>A (p.Thr16415Asn)
c.49103C>A (p.Thr16368Asn)
c.75146C>A (p.Thr25049Asn)
c.70544C>A (p.Thr23515Asn)
c.70541C>A (p.Thr23514Asn)
c.67583C>A (p.Thr22528Asn)
c.49199C>A (p.Thr16400Asn)
c.70694C>A (p.Thr23565Asn)
c.70691C>A (p.Thr23564Asn)
c.70124C>A (p.Thr23375Asn)
c.67466C>A (p.Thr22489Asn)
c.67385C>A (p.Thr22462Asn)
c.49148C>A (p.Thr16383Asn)
c.39002C>A (p.Thr13001Asn)
2g.178569880T>ACA349616298TTN,TTN-AS1c.68548A>T (p.Thr22850Ser)
c.49633A>T (p.Thr16545Ser)
c.49432A>T (p.Thr16478Ser)
c.49057A>T (p.Thr16353Ser)
c.76252A>T (p.Thr25418Ser)
c.71329A>T (p.Thr23777Ser)
n.447-1420T>A
n.2044-12692T>A
c.75349A>T (p.Thr25117Ser)
c.49243A>T (p.Thr16415Ser)
c.49102A>T (p.Thr16368Ser)
c.75145A>T (p.Thr25049Ser)
c.70543A>T (p.Thr23515Ser)
c.70540A>T (p.Thr23514Ser)
c.67582A>T (p.Thr22528Ser)
c.49198A>T (p.Thr16400Ser)
c.70693A>T (p.Thr23565Ser)
c.70690A>T (p.Thr23564Ser)
c.70123A>T (p.Thr23375Ser)
c.67465A>T (p.Thr22489Ser)
c.67384A>T (p.Thr22462Ser)
c.49147A>T (p.Thr16383Ser)
c.39001A>T (p.Thr13001Ser)
2g.178569880T>CCA349616309TTN,TTN-AS1c.68548A>G (p.Thr22850Ala)
c.49633A>G (p.Thr16545Ala)
c.49432A>G (p.Thr16478Ala)
c.49057A>G (p.Thr16353Ala)
c.76252A>G (p.Thr25418Ala)
c.71329A>G (p.Thr23777Ala)
n.447-1420T>C
n.2044-12692T>C
c.75349A>G (p.Thr25117Ala)
c.49243A>G (p.Thr16415Ala)
c.49102A>G (p.Thr16368Ala)
c.75145A>G (p.Thr25049Ala)
c.70543A>G (p.Thr23515Ala)
c.70540A>G (p.Thr23514Ala)
c.67582A>G (p.Thr22528Ala)
c.49198A>G (p.Thr16400Ala)
c.70693A>G (p.Thr23565Ala)
c.70690A>G (p.Thr23564Ala)
c.70123A>G (p.Thr23375Ala)
c.67465A>G (p.Thr22489Ala)
c.67384A>G (p.Thr22462Ala)
c.49147A>G (p.Thr16383Ala)
c.39001A>G (p.Thr13001Ala)
2g.178569880T>GCA349616312TTN,TTN-AS1c.68548A>C (p.Thr22850Pro)
c.49633A>C (p.Thr16545Pro)
c.49432A>C (p.Thr16478Pro)
c.49057A>C (p.Thr16353Pro)
c.76252A>C (p.Thr25418Pro)
c.71329A>C (p.Thr23777Pro)
n.447-1420T>G
n.2044-12692T>G
c.75349A>C (p.Thr25117Pro)
c.49243A>C (p.Thr16415Pro)
c.49102A>C (p.Thr16368Pro)
c.75145A>C (p.Thr25049Pro)
c.70543A>C (p.Thr23515Pro)
c.70540A>C (p.Thr23514Pro)
c.67582A>C (p.Thr22528Pro)
c.49198A>C (p.Thr16400Pro)
c.70693A>C (p.Thr23565Pro)
c.70690A>C (p.Thr23564Pro)
c.70123A>C (p.Thr23375Pro)
c.67465A>C (p.Thr22489Pro)
c.67384A>C (p.Thr22462Pro)
c.49147A>C (p.Thr16383Pro)
c.39001A>C (p.Thr13001Pro)
2g.178569881T>ACA430254414TTN,TTN-AS1c.68547A>T (p.Ile22849=)
c.49632A>T (p.Ile16544=)
c.49431A>T (p.Ile16477=)
c.49056A>T (p.Ile16352=)
c.76251A>T (p.Ile25417=)
c.71328A>T (p.Ile23776=)
n.447-1419T>A
n.2044-12691T>A
c.75348A>T (p.Ile25116=)
c.49242A>T (p.Ile16414=)
c.49101A>T (p.Ile16367=)
c.75144A>T (p.Ile25048=)
c.70542A>T (p.Ile23514=)
c.70539A>T (p.Ile23513=)
c.67581A>T (p.Ile22527=)
c.49197A>T (p.Ile16399=)
c.70692A>T (p.Ile23564=)
c.70689A>T (p.Ile23563=)
c.70122A>T (p.Ile23374=)
c.67464A>T (p.Ile22488=)
c.67383A>T (p.Ile22461=)
c.49146A>T (p.Ile16382=)
c.39000A>T (p.Ile13000=)
2g.178569881T>CCA349616320TTN,TTN-AS1c.68547A>G (p.Ile22849Met)
c.49632A>G (p.Ile16544Met)
c.49431A>G (p.Ile16477Met)
c.49056A>G (p.Ile16352Met)
c.76251A>G (p.Ile25417Met)
c.71328A>G (p.Ile23776Met)
n.447-1419T>C
n.2044-12691T>C
c.75348A>G (p.Ile25116Met)
c.49242A>G (p.Ile16414Met)
c.49101A>G (p.Ile16367Met)
c.75144A>G (p.Ile25048Met)
c.70542A>G (p.Ile23514Met)
c.70539A>G (p.Ile23513Met)
c.67581A>G (p.Ile22527Met)
c.49197A>G (p.Ile16399Met)
c.70692A>G (p.Ile23564Met)
c.70689A>G (p.Ile23563Met)
c.70122A>G (p.Ile23374Met)
c.67464A>G (p.Ile22488Met)
c.67383A>G (p.Ile22461Met)
c.49146A>G (p.Ile16382Met)
c.39000A>G (p.Ile13000Met)
2g.178569881T>GCA430254415TTN,TTN-AS1c.68547A>C (p.Ile22849=)
c.49632A>C (p.Ile16544=)
c.49431A>C (p.Ile16477=)
c.49056A>C (p.Ile16352=)
c.76251A>C (p.Ile25417=)
c.71328A>C (p.Ile23776=)
n.447-1419T>G
n.2044-12691T>G
c.75348A>C (p.Ile25116=)
c.49242A>C (p.Ile16414=)
c.49101A>C (p.Ile16367=)
c.75144A>C (p.Ile25048=)
c.70542A>C (p.Ile23514=)
c.70539A>C (p.Ile23513=)
c.67581A>C (p.Ile22527=)
c.49197A>C (p.Ile16399=)
c.70692A>C (p.Ile23564=)
c.70689A>C (p.Ile23563=)
c.70122A>C (p.Ile23374=)
c.67464A>C (p.Ile22488=)
c.67383A>C (p.Ile22461=)
c.49146A>C (p.Ile16382=)
c.39000A>C (p.Ile13000=)
2g.178569885_178569890delCA2577198651TTN,TTN-AS1c.68542_68547del (p.Asp22848_Ile22849del)
c.49627_49632del (p.Asp16543_Ile16544del)
c.49426_49431del (p.Asp16476_Ile16477del)
c.49051_49056del (p.Asp16351_Ile16352del)
c.76246_76251del (p.Asp25416_Ile25417del)
c.71323_71328del (p.Asp23775_Ile23776del)
n.447-1415_447-1410del
n.2044-12687_2044-12682del
c.75343_75348del (p.Asp25115_Ile25116del)
c.49237_49242del (p.Asp16413_Ile16414del)
c.49096_49101del (p.Asp16366_Ile16367del)
c.75139_75144del (p.Asp25047_Ile25048del)
c.70537_70542del (p.Asp23513_Ile23514del)
c.70534_70539del (p.Asp23512_Ile23513del)
c.67576_67581del (p.Asp22526_Ile22527del)
c.49192_49197del (p.Asp16398_Ile16399del)
c.70687_70692del (p.Asp23563_Ile23564del)
c.70684_70689del (p.Asp23562_Ile23563del)
c.70117_70122del (p.Asp23373_Ile23374del)
c.67459_67464del (p.Asp22487_Ile22488del)
c.67378_67383del (p.Asp22460_Ile22461del)
c.49141_49146del (p.Asp16381_Ile16382del)
c.38995_39000del (p.Asp12999_Ile13000del)
 gnomAD v4
2g.178569882A>CCA349616322TTN,TTN-AS1c.68546T>G (p.Ile22849Arg)
c.49631T>G (p.Ile16544Arg)
c.49430T>G (p.Ile16477Arg)
c.49055T>G (p.Ile16352Arg)
c.76250T>G (p.Ile25417Arg)
c.71327T>G (p.Ile23776Arg)
n.447-1418A>C
n.2044-12690A>C
c.75347T>G (p.Ile25116Arg)
c.49241T>G (p.Ile16414Arg)
c.49100T>G (p.Ile16367Arg)
c.75143T>G (p.Ile25048Arg)
c.70541T>G (p.Ile23514Arg)
c.70538T>G (p.Ile23513Arg)
c.67580T>G (p.Ile22527Arg)
c.49196T>G (p.Ile16399Arg)
c.70691T>G (p.Ile23564Arg)
c.70688T>G (p.Ile23563Arg)
c.70121T>G (p.Ile23374Arg)
c.67463T>G (p.Ile22488Arg)
c.67382T>G (p.Ile22461Arg)
c.49145T>G (p.Ile16382Arg)
c.38999T>G (p.Ile13000Arg)
2g.178569882A>GCA349616323TTN,TTN-AS1c.68546T>C (p.Ile22849Thr)
c.49631T>C (p.Ile16544Thr)
c.49430T>C (p.Ile16477Thr)
c.49055T>C (p.Ile16352Thr)
c.76250T>C (p.Ile25417Thr)
c.71327T>C (p.Ile23776Thr)
n.447-1418A>G
n.2044-12690A>G
c.75347T>C (p.Ile25116Thr)
c.49241T>C (p.Ile16414Thr)
c.49100T>C (p.Ile16367Thr)
c.75143T>C (p.Ile25048Thr)
c.70541T>C (p.Ile23514Thr)
c.70538T>C (p.Ile23513Thr)
c.67580T>C (p.Ile22527Thr)
c.49196T>C (p.Ile16399Thr)
c.70691T>C (p.Ile23564Thr)
c.70688T>C (p.Ile23563Thr)
c.70121T>C (p.Ile23374Thr)
c.67463T>C (p.Ile22488Thr)
c.67382T>C (p.Ile22461Thr)
c.49145T>C (p.Ile16382Thr)
c.38999T>C (p.Ile13000Thr)
2g.178569882A>TCA349616326TTN,TTN-AS1c.68546T>A (p.Ile22849Lys)
c.49631T>A (p.Ile16544Lys)
c.49430T>A (p.Ile16477Lys)
c.49055T>A (p.Ile16352Lys)
c.76250T>A (p.Ile25417Lys)
c.71327T>A (p.Ile23776Lys)
n.447-1418A>T
n.2044-12690A>T
c.75347T>A (p.Ile25116Lys)
c.49241T>A (p.Ile16414Lys)
c.49100T>A (p.Ile16367Lys)
c.75143T>A (p.Ile25048Lys)
c.70541T>A (p.Ile23514Lys)
c.70538T>A (p.Ile23513Lys)
c.67580T>A (p.Ile22527Lys)
c.49196T>A (p.Ile16399Lys)
c.70691T>A (p.Ile23564Lys)
c.70688T>A (p.Ile23563Lys)
c.70121T>A (p.Ile23374Lys)
c.67463T>A (p.Ile22488Lys)
c.67382T>A (p.Ile22461Lys)
c.49145T>A (p.Ile16382Lys)
c.38999T>A (p.Ile13000Lys)
2g.178569883T>ACA349616331TTN,TTN-AS1c.68545A>T (p.Ile22849Leu)
c.49630A>T (p.Ile16544Leu)
c.49429A>T (p.Ile16477Leu)
c.49054A>T (p.Ile16352Leu)
c.76249A>T (p.Ile25417Leu)
c.71326A>T (p.Ile23776Leu)
n.447-1417T>A
n.2044-12689T>A
c.75346A>T (p.Ile25116Leu)
c.49240A>T (p.Ile16414Leu)
c.49099A>T (p.Ile16367Leu)
c.75142A>T (p.Ile25048Leu)
c.70540A>T (p.Ile23514Leu)
c.70537A>T (p.Ile23513Leu)
c.67579A>T (p.Ile22527Leu)
c.49195A>T (p.Ile16399Leu)
c.70690A>T (p.Ile23564Leu)
c.70687A>T (p.Ile23563Leu)
c.70120A>T (p.Ile23374Leu)
c.67462A>T (p.Ile22488Leu)
c.67381A>T (p.Ile22461Leu)
c.49144A>T (p.Ile16382Leu)
c.38998A>T (p.Ile13000Leu)
 gnomAD v4
2g.178569883T>CCA1989935TTN,TTN-AS1c.68545A>G (p.Ile22849Val)
c.49630A>G (p.Ile16544Val)
c.49429A>G (p.Ile16477Val)
c.49054A>G (p.Ile16352Val)
c.76249A>G (p.Ile25417Val)
c.71326A>G (p.Ile23776Val)
n.447-1417T>C
n.2044-12689T>C
c.75346A>G (p.Ile25116Val)
c.49240A>G (p.Ile16414Val)
c.49099A>G (p.Ile16367Val)
c.75142A>G (p.Ile25048Val)
c.70540A>G (p.Ile23514Val)
c.70537A>G (p.Ile23513Val)
c.67579A>G (p.Ile22527Val)
c.49195A>G (p.Ile16399Val)
c.70690A>G (p.Ile23564Val)
c.70687A>G (p.Ile23563Val)
c.70120A>G (p.Ile23374Val)
c.67462A>G (p.Ile22488Val)
c.67381A>G (p.Ile22461Val)
c.49144A>G (p.Ile16382Val)
c.38998A>G (p.Ile13000Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178569883T>GCA349616336TTN,TTN-AS1c.68545A>C (p.Ile22849Leu)
c.49630A>C (p.Ile16544Leu)
c.49429A>C (p.Ile16477Leu)
c.49054A>C (p.Ile16352Leu)
c.76249A>C (p.Ile25417Leu)
c.71326A>C (p.Ile23776Leu)
n.447-1417T>G
n.2044-12689T>G
c.75346A>C (p.Ile25116Leu)
c.49240A>C (p.Ile16414Leu)
c.49099A>C (p.Ile16367Leu)
c.75142A>C (p.Ile25048Leu)
c.70540A>C (p.Ile23514Leu)
c.70537A>C (p.Ile23513Leu)
c.67579A>C (p.Ile22527Leu)
c.49195A>C (p.Ile16399Leu)
c.70690A>C (p.Ile23564Leu)
c.70687A>C (p.Ile23563Leu)
c.70120A>C (p.Ile23374Leu)
c.67462A>C (p.Ile22488Leu)
c.67381A>C (p.Ile22461Leu)
c.49144A>C (p.Ile16382Leu)
c.38998A>C (p.Ile13000Leu)
 gnomAD v4
2g.178569883T=CA1310530786TTN,TTN-AS1c.68545A= (p.Ile22849=)
c.49630A= (p.Ile16544=)
c.49429A= (p.Ile16477=)
c.49054A= (p.Ile16352=)
c.76249A= (p.Ile25417=)
c.71326A= (p.Ile23776=)
n.447-1417T=
n.2044-12689T=
c.75346A= (p.Ile25116=)
c.49240A= (p.Ile16414=)
c.49099A= (p.Ile16367=)
c.75142A= (p.Ile25048=)
c.70540A= (p.Ile23514=)
c.70537A= (p.Ile23513=)
c.67579A= (p.Ile22527=)
c.49195A= (p.Ile16399=)
c.70690A= (p.Ile23564=)
c.70687A= (p.Ile23563=)
c.70120A= (p.Ile23374=)
c.67462A= (p.Ile22488=)
c.67381A= (p.Ile22461=)
c.49144A= (p.Ile16382=)
c.38998A= (p.Ile13000=)
2g.178569884G>ACA1989936TTN,TTN-AS1c.68544C>T (p.Asp22848=)
c.49629C>T (p.Asp16543=)
c.49428C>T (p.Asp16476=)
c.49053C>T (p.Asp16351=)
c.76248C>T (p.Asp25416=)
c.71325C>T (p.Asp23775=)
n.447-1416G>A
n.2044-12688G>A
c.75345C>T (p.Asp25115=)
c.49239C>T (p.Asp16413=)
c.49098C>T (p.Asp16366=)
c.75141C>T (p.Asp25047=)
c.70539C>T (p.Asp23513=)
c.70536C>T (p.Asp23512=)
c.67578C>T (p.Asp22526=)
c.49194C>T (p.Asp16398=)
c.70689C>T (p.Asp23563=)
c.70686C>T (p.Asp23562=)
c.70119C>T (p.Asp23373=)
c.67461C>T (p.Asp22487=)
c.67380C>T (p.Asp22460=)
c.49143C>T (p.Asp16381=)
c.38997C>T (p.Asp12999=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178569884G>CCA349616342TTN,TTN-AS1c.68544C>G (p.Asp22848Glu)
c.49629C>G (p.Asp16543Glu)
c.49428C>G (p.Asp16476Glu)
c.49053C>G (p.Asp16351Glu)
c.76248C>G (p.Asp25416Glu)
c.71325C>G (p.Asp23775Glu)
n.447-1416G>C
n.2044-12688G>C
c.75345C>G (p.Asp25115Glu)
c.49239C>G (p.Asp16413Glu)
c.49098C>G (p.Asp16366Glu)
c.75141C>G (p.Asp25047Glu)
c.70539C>G (p.Asp23513Glu)
c.70536C>G (p.Asp23512Glu)
c.67578C>G (p.Asp22526Glu)
c.49194C>G (p.Asp16398Glu)
c.70689C>G (p.Asp23563Glu)
c.70686C>G (p.Asp23562Glu)
c.70119C>G (p.Asp23373Glu)
c.67461C>G (p.Asp22487Glu)
c.67380C>G (p.Asp22460Glu)
c.49143C>G (p.Asp16381Glu)
c.38997C>G (p.Asp12999Glu)
2g.178569884G=CA1310530787TTN,TTN-AS1c.68544C= (p.Asp22848=)
c.49629C= (p.Asp16543=)
c.49428C= (p.Asp16476=)
c.49053C= (p.Asp16351=)
c.76248C= (p.Asp25416=)
c.71325C= (p.Asp23775=)
n.447-1416G=
n.2044-12688G=
c.75345C= (p.Asp25115=)
c.49239C= (p.Asp16413=)
c.49098C= (p.Asp16366=)
c.75141C= (p.Asp25047=)
c.70539C= (p.Asp23513=)
c.70536C= (p.Asp23512=)
c.67578C= (p.Asp22526=)
c.49194C= (p.Asp16398=)
c.70689C= (p.Asp23563=)
c.70686C= (p.Asp23562=)
c.70119C= (p.Asp23373=)
c.67461C= (p.Asp22487=)
c.67380C= (p.Asp22460=)
c.49143C= (p.Asp16381=)
c.38997C= (p.Asp12999=)
2g.178569884G>TCA349616345TTN,TTN-AS1c.68544C>A (p.Asp22848Glu)
c.49629C>A (p.Asp16543Glu)
c.49428C>A (p.Asp16476Glu)
c.49053C>A (p.Asp16351Glu)
c.76248C>A (p.Asp25416Glu)
c.71325C>A (p.Asp23775Glu)
n.447-1416G>T
n.2044-12688G>T
c.75345C>A (p.Asp25115Glu)
c.49239C>A (p.Asp16413Glu)
c.49098C>A (p.Asp16366Glu)
c.75141C>A (p.Asp25047Glu)
c.70539C>A (p.Asp23513Glu)
c.70536C>A (p.Asp23512Glu)
c.67578C>A (p.Asp22526Glu)
c.49194C>A (p.Asp16398Glu)
c.70689C>A (p.Asp23563Glu)
c.70686C>A (p.Asp23562Glu)
c.70119C>A (p.Asp23373Glu)
c.67461C>A (p.Asp22487Glu)
c.67380C>A (p.Asp22460Glu)
c.49143C>A (p.Asp16381Glu)
c.38997C>A (p.Asp12999Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178569885T>ACA349616353TTN,TTN-AS1c.68543A>T (p.Asp22848Val)
c.49628A>T (p.Asp16543Val)
c.49427A>T (p.Asp16476Val)
c.49052A>T (p.Asp16351Val)
c.76247A>T (p.Asp25416Val)
c.71324A>T (p.Asp23775Val)
n.447-1415T>A
n.2044-12687T>A
c.75344A>T (p.Asp25115Val)
c.49238A>T (p.Asp16413Val)
c.49097A>T (p.Asp16366Val)
c.75140A>T (p.Asp25047Val)
c.70538A>T (p.Asp23513Val)
c.70535A>T (p.Asp23512Val)
c.67577A>T (p.Asp22526Val)
c.49193A>T (p.Asp16398Val)
c.70688A>T (p.Asp23563Val)
c.70685A>T (p.Asp23562Val)
c.70118A>T (p.Asp23373Val)
c.67460A>T (p.Asp22487Val)
c.67379A>T (p.Asp22460Val)
c.49142A>T (p.Asp16381Val)
c.38996A>T (p.Asp12999Val)
2g.178569885T>CCA349616351TTN,TTN-AS1c.68543A>G (p.Asp22848Gly)
c.49628A>G (p.Asp16543Gly)
c.49427A>G (p.Asp16476Gly)
c.49052A>G (p.Asp16351Gly)
c.76247A>G (p.Asp25416Gly)
c.71324A>G (p.Asp23775Gly)
n.447-1415T>C
n.2044-12687T>C
c.75344A>G (p.Asp25115Gly)
c.49238A>G (p.Asp16413Gly)
c.49097A>G (p.Asp16366Gly)
c.75140A>G (p.Asp25047Gly)
c.70538A>G (p.Asp23513Gly)
c.70535A>G (p.Asp23512Gly)
c.67577A>G (p.Asp22526Gly)
c.49193A>G (p.Asp16398Gly)
c.70688A>G (p.Asp23563Gly)
c.70685A>G (p.Asp23562Gly)
c.70118A>G (p.Asp23373Gly)
c.67460A>G (p.Asp22487Gly)
c.67379A>G (p.Asp22460Gly)
c.49142A>G (p.Asp16381Gly)
c.38996A>G (p.Asp12999Gly)
2g.178569885T>GCA349616349TTN,TTN-AS1c.68543A>C (p.Asp22848Ala)
c.49628A>C (p.Asp16543Ala)
c.49427A>C (p.Asp16476Ala)
c.49052A>C (p.Asp16351Ala)
c.76247A>C (p.Asp25416Ala)
c.71324A>C (p.Asp23775Ala)
n.447-1415T>G
n.2044-12687T>G
c.75344A>C (p.Asp25115Ala)
c.49238A>C (p.Asp16413Ala)
c.49097A>C (p.Asp16366Ala)
c.75140A>C (p.Asp25047Ala)
c.70538A>C (p.Asp23513Ala)
c.70535A>C (p.Asp23512Ala)
c.67577A>C (p.Asp22526Ala)
c.49193A>C (p.Asp16398Ala)
c.70688A>C (p.Asp23563Ala)
c.70685A>C (p.Asp23562Ala)
c.70118A>C (p.Asp23373Ala)
c.67460A>C (p.Asp22487Ala)
c.67379A>C (p.Asp22460Ala)
c.49142A>C (p.Asp16381Ala)
c.38996A>C (p.Asp12999Ala)
2g.178569886C>ACA349616357TTN,TTN-AS1c.68542G>T (p.Asp22848Tyr)
c.49627G>T (p.Asp16543Tyr)
c.49426G>T (p.Asp16476Tyr)
c.49051G>T (p.Asp16351Tyr)
c.76246G>T (p.Asp25416Tyr)
c.71323G>T (p.Asp23775Tyr)
n.447-1414C>A
n.2044-12686C>A
c.75343G>T (p.Asp25115Tyr)
c.49237G>T (p.Asp16413Tyr)
c.49096G>T (p.Asp16366Tyr)
c.75139G>T (p.Asp25047Tyr)
c.70537G>T (p.Asp23513Tyr)
c.70534G>T (p.Asp23512Tyr)
c.67576G>T (p.Asp22526Tyr)
c.49192G>T (p.Asp16398Tyr)
c.70687G>T (p.Asp23563Tyr)
c.70684G>T (p.Asp23562Tyr)
c.70117G>T (p.Asp23373Tyr)
c.67459G>T (p.Asp22487Tyr)
c.67378G>T (p.Asp22460Tyr)
c.49141G>T (p.Asp16381Tyr)
c.38995G>T (p.Asp12999Tyr)
2g.178569886C=CA1310530788TTN,TTN-AS1c.68542G= (p.Asp22848=)
c.49627G= (p.Asp16543=)
c.49426G= (p.Asp16476=)
c.49051G= (p.Asp16351=)
c.76246G= (p.Asp25416=)
c.71323G= (p.Asp23775=)
n.447-1414C=
n.2044-12686C=
c.75343G= (p.Asp25115=)
c.49237G= (p.Asp16413=)
c.49096G= (p.Asp16366=)
c.75139G= (p.Asp25047=)
c.70537G= (p.Asp23513=)
c.70534G= (p.Asp23512=)
c.67576G= (p.Asp22526=)
c.49192G= (p.Asp16398=)
c.70687G= (p.Asp23563=)
c.70684G= (p.Asp23562=)
c.70117G= (p.Asp23373=)
c.67459G= (p.Asp22487=)
c.67378G= (p.Asp22460=)
c.49141G= (p.Asp16381=)
c.38995G= (p.Asp12999=)
2g.178569886C>GCA349616360TTN,TTN-AS1c.68542G>C (p.Asp22848His)
c.49627G>C (p.Asp16543His)
c.49426G>C (p.Asp16476His)
c.49051G>C (p.Asp16351His)
c.76246G>C (p.Asp25416His)
c.71323G>C (p.Asp23775His)
n.447-1414C>G
n.2044-12686C>G
c.75343G>C (p.Asp25115His)
c.49237G>C (p.Asp16413His)
c.49096G>C (p.Asp16366His)
c.75139G>C (p.Asp25047His)
c.70537G>C (p.Asp23513His)
c.70534G>C (p.Asp23512His)
c.67576G>C (p.Asp22526His)
c.49192G>C (p.Asp16398His)
c.70687G>C (p.Asp23563His)
c.70684G>C (p.Asp23562His)
c.70117G>C (p.Asp23373His)
c.67459G>C (p.Asp22487His)
c.67378G>C (p.Asp22460His)
c.49141G>C (p.Asp16381His)
c.38995G>C (p.Asp12999His)
2g.178569886C>TCA60994238TTN,TTN-AS1c.68542G>A (p.Asp22848Asn)
c.49627G>A (p.Asp16543Asn)
c.49426G>A (p.Asp16476Asn)
c.49051G>A (p.Asp16351Asn)
c.76246G>A (p.Asp25416Asn)
c.71323G>A (p.Asp23775Asn)
n.447-1414C>T
n.2044-12686C>T
c.75343G>A (p.Asp25115Asn)
c.49237G>A (p.Asp16413Asn)
c.49096G>A (p.Asp16366Asn)
c.75139G>A (p.Asp25047Asn)
c.70537G>A (p.Asp23513Asn)
c.70534G>A (p.Asp23512Asn)
c.67576G>A (p.Asp22526Asn)
c.49192G>A (p.Asp16398Asn)
c.70687G>A (p.Asp23563Asn)
c.70684G>A (p.Asp23562Asn)
c.70117G>A (p.Asp23373Asn)
c.67459G>A (p.Asp22487Asn)
c.67378G>A (p.Asp22460Asn)
c.49141G>A (p.Asp16381Asn)
c.38995G>A (p.Asp12999Asn)
 dbSNP
2g.178569887T>ACA430254420TTN,TTN-AS1c.68541A>T (p.Ile22847=)
c.49626A>T (p.Ile16542=)
c.49425A>T (p.Ile16475=)
c.49050A>T (p.Ile16350=)
c.76245A>T (p.Ile25415=)
c.71322A>T (p.Ile23774=)
n.447-1413T>A
n.2044-12685T>A
c.75342A>T (p.Ile25114=)
c.49236A>T (p.Ile16412=)
c.49095A>T (p.Ile16365=)
c.75138A>T (p.Ile25046=)
c.70536A>T (p.Ile23512=)
c.70533A>T (p.Ile23511=)
c.67575A>T (p.Ile22525=)
c.49191A>T (p.Ile16397=)
c.70686A>T (p.Ile23562=)
c.70683A>T (p.Ile23561=)
c.70116A>T (p.Ile23372=)
c.67458A>T (p.Ile22486=)
c.67377A>T (p.Ile22459=)
c.49140A>T (p.Ile16380=)
c.38994A>T (p.Ile12998=)
2g.178569887T>CCA349616365TTN,TTN-AS1c.68541A>G (p.Ile22847Met)
c.49626A>G (p.Ile16542Met)
c.49425A>G (p.Ile16475Met)
c.49050A>G (p.Ile16350Met)
c.76245A>G (p.Ile25415Met)
c.71322A>G (p.Ile23774Met)
n.447-1413T>C
n.2044-12685T>C
c.75342A>G (p.Ile25114Met)
c.49236A>G (p.Ile16412Met)
c.49095A>G (p.Ile16365Met)
c.75138A>G (p.Ile25046Met)
c.70536A>G (p.Ile23512Met)
c.70533A>G (p.Ile23511Met)
c.67575A>G (p.Ile22525Met)
c.49191A>G (p.Ile16397Met)
c.70686A>G (p.Ile23562Met)
c.70683A>G (p.Ile23561Met)
c.70116A>G (p.Ile23372Met)
c.67458A>G (p.Ile22486Met)
c.67377A>G (p.Ile22459Met)
c.49140A>G (p.Ile16380Met)
c.38994A>G (p.Ile12998Met)
2g.178569887T>GCA430254421TTN,TTN-AS1c.68541A>C (p.Ile22847=)
c.49626A>C (p.Ile16542=)
c.49425A>C (p.Ile16475=)
c.49050A>C (p.Ile16350=)
c.76245A>C (p.Ile25415=)
c.71322A>C (p.Ile23774=)
n.447-1413T>G
n.2044-12685T>G
c.75342A>C (p.Ile25114=)
c.49236A>C (p.Ile16412=)
c.49095A>C (p.Ile16365=)
c.75138A>C (p.Ile25046=)
c.70536A>C (p.Ile23512=)
c.70533A>C (p.Ile23511=)
c.67575A>C (p.Ile22525=)
c.49191A>C (p.Ile16397=)
c.70686A>C (p.Ile23562=)
c.70683A>C (p.Ile23561=)
c.70116A>C (p.Ile23372=)
c.67458A>C (p.Ile22486=)
c.67377A>C (p.Ile22459=)
c.49140A>C (p.Ile16380=)
c.38994A>C (p.Ile12998=)
2g.178569888A=CA1310530790TTN,TTN-AS1c.68540T= (p.Ile22847=)
c.49625T= (p.Ile16542=)
c.49424T= (p.Ile16475=)
c.49049T= (p.Ile16350=)
c.76244T= (p.Ile25415=)
c.71321T= (p.Ile23774=)
n.447-1412A=
n.2044-12684A=
c.75341T= (p.Ile25114=)
c.49235T= (p.Ile16412=)
c.49094T= (p.Ile16365=)
c.75137T= (p.Ile25046=)
c.70535T= (p.Ile23512=)
c.70532T= (p.Ile23511=)
c.67574T= (p.Ile22525=)
c.49190T= (p.Ile16397=)
c.70685T= (p.Ile23562=)
c.70682T= (p.Ile23561=)
c.70115T= (p.Ile23372=)
c.67457T= (p.Ile22486=)
c.67376T= (p.Ile22459=)
c.49139T= (p.Ile16380=)
c.38993T= (p.Ile12998=)

Number of alleles fetched