Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178567196A>CCA430252840TTN,TTN-AS1c.71232T>G (p.Leu23744=)
c.52317T>G (p.Leu17439=)
c.52116T>G (p.Leu17372=)
c.51741T>G (p.Leu17247=)
c.78936T>G (p.Leu26312=)
c.74013T>G (p.Leu24671=)
n.447-4104A>C
n.2044-15376A>C
c.78033T>G (p.Leu26011=)
c.51927T>G (p.Leu17309=)
c.51786T>G (p.Leu17262=)
c.77829T>G (p.Leu25943=)
c.73227T>G (p.Leu24409=)
c.73224T>G (p.Leu24408=)
c.70266T>G (p.Leu23422=)
c.51882T>G (p.Leu17294=)
c.73377T>G (p.Leu24459=)
c.73374T>G (p.Leu24458=)
c.72807T>G (p.Leu24269=)
c.70149T>G (p.Leu23383=)
c.70068T>G (p.Leu23356=)
c.51831T>G (p.Leu17277=)
c.41685T>G (p.Leu13895=)
2g.178567196A>GCA430252841TTN,TTN-AS1c.71232T>C (p.Leu23744=)
c.52317T>C (p.Leu17439=)
c.52116T>C (p.Leu17372=)
c.51741T>C (p.Leu17247=)
c.78936T>C (p.Leu26312=)
c.74013T>C (p.Leu24671=)
n.447-4104A>G
n.2044-15376A>G
c.78033T>C (p.Leu26011=)
c.51927T>C (p.Leu17309=)
c.51786T>C (p.Leu17262=)
c.77829T>C (p.Leu25943=)
c.73227T>C (p.Leu24409=)
c.73224T>C (p.Leu24408=)
c.70266T>C (p.Leu23422=)
c.51882T>C (p.Leu17294=)
c.73377T>C (p.Leu24459=)
c.73374T>C (p.Leu24458=)
c.72807T>C (p.Leu24269=)
c.70149T>C (p.Leu23383=)
c.70068T>C (p.Leu23356=)
c.51831T>C (p.Leu17277=)
c.41685T>C (p.Leu13895=)
2g.178567196A>TCA430252842TTN,TTN-AS1c.71232T>A (p.Leu23744=)
c.52317T>A (p.Leu17439=)
c.52116T>A (p.Leu17372=)
c.51741T>A (p.Leu17247=)
c.78936T>A (p.Leu26312=)
c.74013T>A (p.Leu24671=)
n.447-4104A>T
n.2044-15376A>T
c.78033T>A (p.Leu26011=)
c.51927T>A (p.Leu17309=)
c.51786T>A (p.Leu17262=)
c.77829T>A (p.Leu25943=)
c.73227T>A (p.Leu24409=)
c.73224T>A (p.Leu24408=)
c.70266T>A (p.Leu23422=)
c.51882T>A (p.Leu17294=)
c.73377T>A (p.Leu24459=)
c.73374T>A (p.Leu24458=)
c.72807T>A (p.Leu24269=)
c.70149T>A (p.Leu23383=)
c.70068T>A (p.Leu23356=)
c.51831T>A (p.Leu17277=)
c.41685T>A (p.Leu13895=)
 gnomAD v4
2g.178567197A>CCA349600527TTN,TTN-AS1c.71231T>G (p.Leu23744Arg)
c.52316T>G (p.Leu17439Arg)
c.52115T>G (p.Leu17372Arg)
c.51740T>G (p.Leu17247Arg)
c.78935T>G (p.Leu26312Arg)
c.74012T>G (p.Leu24671Arg)
n.447-4103A>C
n.2044-15375A>C
c.78032T>G (p.Leu26011Arg)
c.51926T>G (p.Leu17309Arg)
c.51785T>G (p.Leu17262Arg)
c.77828T>G (p.Leu25943Arg)
c.73226T>G (p.Leu24409Arg)
c.73223T>G (p.Leu24408Arg)
c.70265T>G (p.Leu23422Arg)
c.51881T>G (p.Leu17294Arg)
c.73376T>G (p.Leu24459Arg)
c.73373T>G (p.Leu24458Arg)
c.72806T>G (p.Leu24269Arg)
c.70148T>G (p.Leu23383Arg)
c.70067T>G (p.Leu23356Arg)
c.51830T>G (p.Leu17277Arg)
c.41684T>G (p.Leu13895Arg)
2g.178567197A>GCA349600529TTN,TTN-AS1c.71231T>C (p.Leu23744Pro)
c.52316T>C (p.Leu17439Pro)
c.52115T>C (p.Leu17372Pro)
c.51740T>C (p.Leu17247Pro)
c.78935T>C (p.Leu26312Pro)
c.74012T>C (p.Leu24671Pro)
n.447-4103A>G
n.2044-15375A>G
c.78032T>C (p.Leu26011Pro)
c.51926T>C (p.Leu17309Pro)
c.51785T>C (p.Leu17262Pro)
c.77828T>C (p.Leu25943Pro)
c.73226T>C (p.Leu24409Pro)
c.73223T>C (p.Leu24408Pro)
c.70265T>C (p.Leu23422Pro)
c.51881T>C (p.Leu17294Pro)
c.73376T>C (p.Leu24459Pro)
c.73373T>C (p.Leu24458Pro)
c.72806T>C (p.Leu24269Pro)
c.70148T>C (p.Leu23383Pro)
c.70067T>C (p.Leu23356Pro)
c.51830T>C (p.Leu17277Pro)
c.41684T>C (p.Leu13895Pro)
 gnomAD v4
2g.178567197A>TCA349600531TTN,TTN-AS1c.71231T>A (p.Leu23744His)
c.52316T>A (p.Leu17439His)
c.52115T>A (p.Leu17372His)
c.51740T>A (p.Leu17247His)
c.78935T>A (p.Leu26312His)
c.74012T>A (p.Leu24671His)
n.447-4103A>T
n.2044-15375A>T
c.78032T>A (p.Leu26011His)
c.51926T>A (p.Leu17309His)
c.51785T>A (p.Leu17262His)
c.77828T>A (p.Leu25943His)
c.73226T>A (p.Leu24409His)
c.73223T>A (p.Leu24408His)
c.70265T>A (p.Leu23422His)
c.51881T>A (p.Leu17294His)
c.73376T>A (p.Leu24459His)
c.73373T>A (p.Leu24458His)
c.72806T>A (p.Leu24269His)
c.70148T>A (p.Leu23383His)
c.70067T>A (p.Leu23356His)
c.51830T>A (p.Leu17277His)
c.41684T>A (p.Leu13895His)
2g.178567198G>ACA349600532TTN,TTN-AS1c.71230C>T (p.Leu23744Phe)
c.52315C>T (p.Leu17439Phe)
c.52114C>T (p.Leu17372Phe)
c.51739C>T (p.Leu17247Phe)
c.78934C>T (p.Leu26312Phe)
c.74011C>T (p.Leu24671Phe)
n.447-4102G>A
n.2044-15374G>A
c.78031C>T (p.Leu26011Phe)
c.51925C>T (p.Leu17309Phe)
c.51784C>T (p.Leu17262Phe)
c.77827C>T (p.Leu25943Phe)
c.73225C>T (p.Leu24409Phe)
c.73222C>T (p.Leu24408Phe)
c.70264C>T (p.Leu23422Phe)
c.51880C>T (p.Leu17294Phe)
c.73375C>T (p.Leu24459Phe)
c.73372C>T (p.Leu24458Phe)
c.72805C>T (p.Leu24269Phe)
c.70147C>T (p.Leu23383Phe)
c.70066C>T (p.Leu23356Phe)
c.51829C>T (p.Leu17277Phe)
c.41683C>T (p.Leu13895Phe)
 dbSNP
2g.178567198G>CCA349600534TTN,TTN-AS1c.71230C>G (p.Leu23744Val)
c.52315C>G (p.Leu17439Val)
c.52114C>G (p.Leu17372Val)
c.51739C>G (p.Leu17247Val)
c.78934C>G (p.Leu26312Val)
c.74011C>G (p.Leu24671Val)
n.447-4102G>C
n.2044-15374G>C
c.78031C>G (p.Leu26011Val)
c.51925C>G (p.Leu17309Val)
c.51784C>G (p.Leu17262Val)
c.77827C>G (p.Leu25943Val)
c.73225C>G (p.Leu24409Val)
c.73222C>G (p.Leu24408Val)
c.70264C>G (p.Leu23422Val)
c.51880C>G (p.Leu17294Val)
c.73375C>G (p.Leu24459Val)
c.73372C>G (p.Leu24458Val)
c.72805C>G (p.Leu24269Val)
c.70147C>G (p.Leu23383Val)
c.70066C>G (p.Leu23356Val)
c.51829C>G (p.Leu17277Val)
c.41683C>G (p.Leu13895Val)
2g.178567198G=CA1310529827TTN,TTN-AS1c.71230C= (p.Leu23744=)
c.52315C= (p.Leu17439=)
c.52114C= (p.Leu17372=)
c.51739C= (p.Leu17247=)
c.78934C= (p.Leu26312=)
c.74011C= (p.Leu24671=)
n.447-4102G=
n.2044-15374G=
c.78031C= (p.Leu26011=)
c.51925C= (p.Leu17309=)
c.51784C= (p.Leu17262=)
c.77827C= (p.Leu25943=)
c.73225C= (p.Leu24409=)
c.73222C= (p.Leu24408=)
c.70264C= (p.Leu23422=)
c.51880C= (p.Leu17294=)
c.73375C= (p.Leu24459=)
c.73372C= (p.Leu24458=)
c.72805C= (p.Leu24269=)
c.70147C= (p.Leu23383=)
c.70066C= (p.Leu23356=)
c.51829C= (p.Leu17277=)
c.41683C= (p.Leu13895=)
2g.178567198G>TCA349600536TTN,TTN-AS1c.71230C>A (p.Leu23744Ile)
c.52315C>A (p.Leu17439Ile)
c.52114C>A (p.Leu17372Ile)
c.51739C>A (p.Leu17247Ile)
c.78934C>A (p.Leu26312Ile)
c.74011C>A (p.Leu24671Ile)
n.447-4102G>T
n.2044-15374G>T
c.78031C>A (p.Leu26011Ile)
c.51925C>A (p.Leu17309Ile)
c.51784C>A (p.Leu17262Ile)
c.77827C>A (p.Leu25943Ile)
c.73225C>A (p.Leu24409Ile)
c.73222C>A (p.Leu24408Ile)
c.70264C>A (p.Leu23422Ile)
c.51880C>A (p.Leu17294Ile)
c.73375C>A (p.Leu24459Ile)
c.73372C>A (p.Leu24458Ile)
c.72805C>A (p.Leu24269Ile)
c.70147C>A (p.Leu23383Ile)
c.70066C>A (p.Leu23356Ile)
c.51829C>A (p.Leu17277Ile)
c.41683C>A (p.Leu13895Ile)
 gnomAD v4
2g.178567199T>ACA430252847TTN,TTN-AS1c.71229A>T (p.Pro23743=)
c.52314A>T (p.Pro17438=)
c.52113A>T (p.Pro17371=)
c.51738A>T (p.Pro17246=)
c.78933A>T (p.Pro26311=)
c.74010A>T (p.Pro24670=)
n.447-4101T>A
n.2044-15373T>A
c.78030A>T (p.Pro26010=)
c.51924A>T (p.Pro17308=)
c.51783A>T (p.Pro17261=)
c.77826A>T (p.Pro25942=)
c.73224A>T (p.Pro24408=)
c.73221A>T (p.Pro24407=)
c.70263A>T (p.Pro23421=)
c.51879A>T (p.Pro17293=)
c.73374A>T (p.Pro24458=)
c.73371A>T (p.Pro24457=)
c.72804A>T (p.Pro24268=)
c.70146A>T (p.Pro23382=)
c.70065A>T (p.Pro23355=)
c.51828A>T (p.Pro17276=)
c.41682A>T (p.Pro13894=)
2g.178567199T>CCA430252848TTN,TTN-AS1c.71229A>G (p.Pro23743=)
c.52314A>G (p.Pro17438=)
c.52113A>G (p.Pro17371=)
c.51738A>G (p.Pro17246=)
c.78933A>G (p.Pro26311=)
c.74010A>G (p.Pro24670=)
n.447-4101T>C
n.2044-15373T>C
c.78030A>G (p.Pro26010=)
c.51924A>G (p.Pro17308=)
c.51783A>G (p.Pro17261=)
c.77826A>G (p.Pro25942=)
c.73224A>G (p.Pro24408=)
c.73221A>G (p.Pro24407=)
c.70263A>G (p.Pro23421=)
c.51879A>G (p.Pro17293=)
c.73374A>G (p.Pro24458=)
c.73371A>G (p.Pro24457=)
c.72804A>G (p.Pro24268=)
c.70146A>G (p.Pro23382=)
c.70065A>G (p.Pro23355=)
c.51828A>G (p.Pro17276=)
c.41682A>G (p.Pro13894=)
2g.178567199T>GCA430252849TTN,TTN-AS1c.71229A>C (p.Pro23743=)
c.52314A>C (p.Pro17438=)
c.52113A>C (p.Pro17371=)
c.51738A>C (p.Pro17246=)
c.78933A>C (p.Pro26311=)
c.74010A>C (p.Pro24670=)
n.447-4101T>G
n.2044-15373T>G
c.78030A>C (p.Pro26010=)
c.51924A>C (p.Pro17308=)
c.51783A>C (p.Pro17261=)
c.77826A>C (p.Pro25942=)
c.73224A>C (p.Pro24408=)
c.73221A>C (p.Pro24407=)
c.70263A>C (p.Pro23421=)
c.51879A>C (p.Pro17293=)
c.73374A>C (p.Pro24458=)
c.73371A>C (p.Pro24457=)
c.72804A>C (p.Pro24268=)
c.70146A>C (p.Pro23382=)
c.70065A>C (p.Pro23355=)
c.51828A>C (p.Pro17276=)
c.41682A>C (p.Pro13894=)
2g.178567200G>ACA349600538TTN,TTN-AS1c.71228C>T (p.Pro23743Leu)
c.52313C>T (p.Pro17438Leu)
c.52112C>T (p.Pro17371Leu)
c.51737C>T (p.Pro17246Leu)
c.78932C>T (p.Pro26311Leu)
c.74009C>T (p.Pro24670Leu)
n.447-4100G>A
n.2044-15372G>A
c.78029C>T (p.Pro26010Leu)
c.51923C>T (p.Pro17308Leu)
c.51782C>T (p.Pro17261Leu)
c.77825C>T (p.Pro25942Leu)
c.73223C>T (p.Pro24408Leu)
c.73220C>T (p.Pro24407Leu)
c.70262C>T (p.Pro23421Leu)
c.51878C>T (p.Pro17293Leu)
c.73373C>T (p.Pro24458Leu)
c.73370C>T (p.Pro24457Leu)
c.72803C>T (p.Pro24268Leu)
c.70145C>T (p.Pro23382Leu)
c.70064C>T (p.Pro23355Leu)
c.51827C>T (p.Pro17276Leu)
c.41681C>T (p.Pro13894Leu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178567200G>CCA349600539TTN,TTN-AS1c.71228C>G (p.Pro23743Arg)
c.52313C>G (p.Pro17438Arg)
c.52112C>G (p.Pro17371Arg)
c.51737C>G (p.Pro17246Arg)
c.78932C>G (p.Pro26311Arg)
c.74009C>G (p.Pro24670Arg)
n.447-4100G>C
n.2044-15372G>C
c.78029C>G (p.Pro26010Arg)
c.51923C>G (p.Pro17308Arg)
c.51782C>G (p.Pro17261Arg)
c.77825C>G (p.Pro25942Arg)
c.73223C>G (p.Pro24408Arg)
c.73220C>G (p.Pro24407Arg)
c.70262C>G (p.Pro23421Arg)
c.51878C>G (p.Pro17293Arg)
c.73373C>G (p.Pro24458Arg)
c.73370C>G (p.Pro24457Arg)
c.72803C>G (p.Pro24268Arg)
c.70145C>G (p.Pro23382Arg)
c.70064C>G (p.Pro23355Arg)
c.51827C>G (p.Pro17276Arg)
c.41681C>G (p.Pro13894Arg)
2g.178567200G>TCA349600542TTN,TTN-AS1c.71228C>A (p.Pro23743Gln)
c.52313C>A (p.Pro17438Gln)
c.52112C>A (p.Pro17371Gln)
c.51737C>A (p.Pro17246Gln)
c.78932C>A (p.Pro26311Gln)
c.74009C>A (p.Pro24670Gln)
n.447-4100G>T
n.2044-15372G>T
c.78029C>A (p.Pro26010Gln)
c.51923C>A (p.Pro17308Gln)
c.51782C>A (p.Pro17261Gln)
c.77825C>A (p.Pro25942Gln)
c.73223C>A (p.Pro24408Gln)
c.73220C>A (p.Pro24407Gln)
c.70262C>A (p.Pro23421Gln)
c.51878C>A (p.Pro17293Gln)
c.73373C>A (p.Pro24458Gln)
c.73370C>A (p.Pro24457Gln)
c.72803C>A (p.Pro24268Gln)
c.70145C>A (p.Pro23382Gln)
c.70064C>A (p.Pro23355Gln)
c.51827C>A (p.Pro17276Gln)
c.41681C>A (p.Pro13894Gln)
2g.178567201G>ACA60991023TTN,TTN-AS1c.71227C>T (p.Pro23743Ser)
c.52312C>T (p.Pro17438Ser)
c.52111C>T (p.Pro17371Ser)
c.51736C>T (p.Pro17246Ser)
c.78931C>T (p.Pro26311Ser)
c.74008C>T (p.Pro24670Ser)
n.447-4099G>A
n.2044-15371G>A
c.78028C>T (p.Pro26010Ser)
c.51922C>T (p.Pro17308Ser)
c.51781C>T (p.Pro17261Ser)
c.77824C>T (p.Pro25942Ser)
c.73222C>T (p.Pro24408Ser)
c.73219C>T (p.Pro24407Ser)
c.70261C>T (p.Pro23421Ser)
c.51877C>T (p.Pro17293Ser)
c.73372C>T (p.Pro24458Ser)
c.73369C>T (p.Pro24457Ser)
c.72802C>T (p.Pro24268Ser)
c.70144C>T (p.Pro23382Ser)
c.70063C>T (p.Pro23355Ser)
c.51826C>T (p.Pro17276Ser)
c.41680C>T (p.Pro13894Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178567201G>CCA349600546TTN,TTN-AS1c.71227C>G (p.Pro23743Ala)
c.52312C>G (p.Pro17438Ala)
c.52111C>G (p.Pro17371Ala)
c.51736C>G (p.Pro17246Ala)
c.78931C>G (p.Pro26311Ala)
c.74008C>G (p.Pro24670Ala)
n.447-4099G>C
n.2044-15371G>C
c.78028C>G (p.Pro26010Ala)
c.51922C>G (p.Pro17308Ala)
c.51781C>G (p.Pro17261Ala)
c.77824C>G (p.Pro25942Ala)
c.73222C>G (p.Pro24408Ala)
c.73219C>G (p.Pro24407Ala)
c.70261C>G (p.Pro23421Ala)
c.51877C>G (p.Pro17293Ala)
c.73372C>G (p.Pro24458Ala)
c.73369C>G (p.Pro24457Ala)
c.72802C>G (p.Pro24268Ala)
c.70144C>G (p.Pro23382Ala)
c.70063C>G (p.Pro23355Ala)
c.51826C>G (p.Pro17276Ala)
c.41680C>G (p.Pro13894Ala)
2g.178567201G=CA1310529828TTN,TTN-AS1c.71227C= (p.Pro23743=)
c.52312C= (p.Pro17438=)
c.52111C= (p.Pro17371=)
c.51736C= (p.Pro17246=)
c.78931C= (p.Pro26311=)
c.74008C= (p.Pro24670=)
n.447-4099G=
n.2044-15371G=
c.78028C= (p.Pro26010=)
c.51922C= (p.Pro17308=)
c.51781C= (p.Pro17261=)
c.77824C= (p.Pro25942=)
c.73222C= (p.Pro24408=)
c.73219C= (p.Pro24407=)
c.70261C= (p.Pro23421=)
c.51877C= (p.Pro17293=)
c.73372C= (p.Pro24458=)
c.73369C= (p.Pro24457=)
c.72802C= (p.Pro24268=)
c.70144C= (p.Pro23382=)
c.70063C= (p.Pro23355=)
c.51826C= (p.Pro17276=)
c.41680C= (p.Pro13894=)
2g.178567201G>TCA349600547TTN,TTN-AS1c.71227C>A (p.Pro23743Thr)
c.52312C>A (p.Pro17438Thr)
c.52111C>A (p.Pro17371Thr)
c.51736C>A (p.Pro17246Thr)
c.78931C>A (p.Pro26311Thr)
c.74008C>A (p.Pro24670Thr)
n.447-4099G>T
n.2044-15371G>T
c.78028C>A (p.Pro26010Thr)
c.51922C>A (p.Pro17308Thr)
c.51781C>A (p.Pro17261Thr)
c.77824C>A (p.Pro25942Thr)
c.73222C>A (p.Pro24408Thr)
c.73219C>A (p.Pro24407Thr)
c.70261C>A (p.Pro23421Thr)
c.51877C>A (p.Pro17293Thr)
c.73372C>A (p.Pro24458Thr)
c.73369C>A (p.Pro24457Thr)
c.72802C>A (p.Pro24268Thr)
c.70144C>A (p.Pro23382Thr)
c.70063C>A (p.Pro23355Thr)
c.51826C>A (p.Pro17276Thr)
c.41680C>A (p.Pro13894Thr)
2g.178567202T>ACA430252853TTN,TTN-AS1c.71226A>T (p.Pro23742=)
c.52311A>T (p.Pro17437=)
c.52110A>T (p.Pro17370=)
c.51735A>T (p.Pro17245=)
c.78930A>T (p.Pro26310=)
c.74007A>T (p.Pro24669=)
n.447-4098T>A
n.2044-15370T>A
c.78027A>T (p.Pro26009=)
c.51921A>T (p.Pro17307=)
c.51780A>T (p.Pro17260=)
c.77823A>T (p.Pro25941=)
c.73221A>T (p.Pro24407=)
c.73218A>T (p.Pro24406=)
c.70260A>T (p.Pro23420=)
c.51876A>T (p.Pro17292=)
c.73371A>T (p.Pro24457=)
c.73368A>T (p.Pro24456=)
c.72801A>T (p.Pro24267=)
c.70143A>T (p.Pro23381=)
c.70062A>T (p.Pro23354=)
c.51825A>T (p.Pro17275=)
c.41679A>T (p.Pro13893=)
2g.178567202T>CCA430252854TTN,TTN-AS1c.71226A>G (p.Pro23742=)
c.52311A>G (p.Pro17437=)
c.52110A>G (p.Pro17370=)
c.51735A>G (p.Pro17245=)
c.78930A>G (p.Pro26310=)
c.74007A>G (p.Pro24669=)
n.447-4098T>C
n.2044-15370T>C
c.78027A>G (p.Pro26009=)
c.51921A>G (p.Pro17307=)
c.51780A>G (p.Pro17260=)
c.77823A>G (p.Pro25941=)
c.73221A>G (p.Pro24407=)
c.73218A>G (p.Pro24406=)
c.70260A>G (p.Pro23420=)
c.51876A>G (p.Pro17292=)
c.73371A>G (p.Pro24457=)
c.73368A>G (p.Pro24456=)
c.72801A>G (p.Pro24267=)
c.70143A>G (p.Pro23381=)
c.70062A>G (p.Pro23354=)
c.51825A>G (p.Pro17275=)
c.41679A>G (p.Pro13893=)
 gnomAD v4
2g.178567202T>GCA430252855TTN,TTN-AS1c.71226A>C (p.Pro23742=)
c.52311A>C (p.Pro17437=)
c.52110A>C (p.Pro17370=)
c.51735A>C (p.Pro17245=)
c.78930A>C (p.Pro26310=)
c.74007A>C (p.Pro24669=)
n.447-4098T>G
n.2044-15370T>G
c.78027A>C (p.Pro26009=)
c.51921A>C (p.Pro17307=)
c.51780A>C (p.Pro17260=)
c.77823A>C (p.Pro25941=)
c.73221A>C (p.Pro24407=)
c.73218A>C (p.Pro24406=)
c.70260A>C (p.Pro23420=)
c.51876A>C (p.Pro17292=)
c.73371A>C (p.Pro24457=)
c.73368A>C (p.Pro24456=)
c.72801A>C (p.Pro24267=)
c.70143A>C (p.Pro23381=)
c.70062A>C (p.Pro23354=)
c.51825A>C (p.Pro17275=)
c.41679A>C (p.Pro13893=)
2g.178567203G>ACA1989549TTN,TTN-AS1c.71225C>T (p.Pro23742Leu)
c.52310C>T (p.Pro17437Leu)
c.52109C>T (p.Pro17370Leu)
c.51734C>T (p.Pro17245Leu)
c.78929C>T (p.Pro26310Leu)
c.74006C>T (p.Pro24669Leu)
n.447-4097G>A
n.2044-15369G>A
c.78026C>T (p.Pro26009Leu)
c.51920C>T (p.Pro17307Leu)
c.51779C>T (p.Pro17260Leu)
c.77822C>T (p.Pro25941Leu)
c.73220C>T (p.Pro24407Leu)
c.73217C>T (p.Pro24406Leu)
c.70259C>T (p.Pro23420Leu)
c.51875C>T (p.Pro17292Leu)
c.73370C>T (p.Pro24457Leu)
c.73367C>T (p.Pro24456Leu)
c.72800C>T (p.Pro24267Leu)
c.70142C>T (p.Pro23381Leu)
c.70061C>T (p.Pro23354Leu)
c.51824C>T (p.Pro17275Leu)
c.41678C>T (p.Pro13893Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178567203G>CCA349600555TTN,TTN-AS1c.71225C>G (p.Pro23742Arg)
c.52310C>G (p.Pro17437Arg)
c.52109C>G (p.Pro17370Arg)
c.51734C>G (p.Pro17245Arg)
c.78929C>G (p.Pro26310Arg)
c.74006C>G (p.Pro24669Arg)
n.447-4097G>C
n.2044-15369G>C
c.78026C>G (p.Pro26009Arg)
c.51920C>G (p.Pro17307Arg)
c.51779C>G (p.Pro17260Arg)
c.77822C>G (p.Pro25941Arg)
c.73220C>G (p.Pro24407Arg)
c.73217C>G (p.Pro24406Arg)
c.70259C>G (p.Pro23420Arg)
c.51875C>G (p.Pro17292Arg)
c.73370C>G (p.Pro24457Arg)
c.73367C>G (p.Pro24456Arg)
c.72800C>G (p.Pro24267Arg)
c.70142C>G (p.Pro23381Arg)
c.70061C>G (p.Pro23354Arg)
c.51824C>G (p.Pro17275Arg)
c.41678C>G (p.Pro13893Arg)
2g.178567203G=CA1310529829TTN,TTN-AS1c.71225C= (p.Pro23742=)
c.52310C= (p.Pro17437=)
c.52109C= (p.Pro17370=)
c.51734C= (p.Pro17245=)
c.78929C= (p.Pro26310=)
c.74006C= (p.Pro24669=)
n.447-4097G=
n.2044-15369G=
c.78026C= (p.Pro26009=)
c.51920C= (p.Pro17307=)
c.51779C= (p.Pro17260=)
c.77822C= (p.Pro25941=)
c.73220C= (p.Pro24407=)
c.73217C= (p.Pro24406=)
c.70259C= (p.Pro23420=)
c.51875C= (p.Pro17292=)
c.73370C= (p.Pro24457=)
c.73367C= (p.Pro24456=)
c.72800C= (p.Pro24267=)
c.70142C= (p.Pro23381=)
c.70061C= (p.Pro23354=)
c.51824C= (p.Pro17275=)
c.41678C= (p.Pro13893=)
2g.178567203G>TCA349600551TTN,TTN-AS1c.71225C>A (p.Pro23742Gln)
c.52310C>A (p.Pro17437Gln)
c.52109C>A (p.Pro17370Gln)
c.51734C>A (p.Pro17245Gln)
c.78929C>A (p.Pro26310Gln)
c.74006C>A (p.Pro24669Gln)
n.447-4097G>T
n.2044-15369G>T
c.78026C>A (p.Pro26009Gln)
c.51920C>A (p.Pro17307Gln)
c.51779C>A (p.Pro17260Gln)
c.77822C>A (p.Pro25941Gln)
c.73220C>A (p.Pro24407Gln)
c.73217C>A (p.Pro24406Gln)
c.70259C>A (p.Pro23420Gln)
c.51875C>A (p.Pro17292Gln)
c.73370C>A (p.Pro24457Gln)
c.73367C>A (p.Pro24456Gln)
c.72800C>A (p.Pro24267Gln)
c.70142C>A (p.Pro23381Gln)
c.70061C>A (p.Pro23354Gln)
c.51824C>A (p.Pro17275Gln)
c.41678C>A (p.Pro13893Gln)
2g.178567204G>ACA349600558TTN,TTN-AS1c.71224C>T (p.Pro23742Ser)
c.52309C>T (p.Pro17437Ser)
c.52108C>T (p.Pro17370Ser)
c.51733C>T (p.Pro17245Ser)
c.78928C>T (p.Pro26310Ser)
c.74005C>T (p.Pro24669Ser)
n.447-4096G>A
n.2044-15368G>A
c.78025C>T (p.Pro26009Ser)
c.51919C>T (p.Pro17307Ser)
c.51778C>T (p.Pro17260Ser)
c.77821C>T (p.Pro25941Ser)
c.73219C>T (p.Pro24407Ser)
c.73216C>T (p.Pro24406Ser)
c.70258C>T (p.Pro23420Ser)
c.51874C>T (p.Pro17292Ser)
c.73369C>T (p.Pro24457Ser)
c.73366C>T (p.Pro24456Ser)
c.72799C>T (p.Pro24267Ser)
c.70141C>T (p.Pro23381Ser)
c.70060C>T (p.Pro23354Ser)
c.51823C>T (p.Pro17275Ser)
c.41677C>T (p.Pro13893Ser)
2g.178567204G>CCA349600556TTN,TTN-AS1c.71224C>G (p.Pro23742Ala)
c.52309C>G (p.Pro17437Ala)
c.52108C>G (p.Pro17370Ala)
c.51733C>G (p.Pro17245Ala)
c.78928C>G (p.Pro26310Ala)
c.74005C>G (p.Pro24669Ala)
n.447-4096G>C
n.2044-15368G>C
c.78025C>G (p.Pro26009Ala)
c.51919C>G (p.Pro17307Ala)
c.51778C>G (p.Pro17260Ala)
c.77821C>G (p.Pro25941Ala)
c.73219C>G (p.Pro24407Ala)
c.73216C>G (p.Pro24406Ala)
c.70258C>G (p.Pro23420Ala)
c.51874C>G (p.Pro17292Ala)
c.73369C>G (p.Pro24457Ala)
c.73366C>G (p.Pro24456Ala)
c.72799C>G (p.Pro24267Ala)
c.70141C>G (p.Pro23381Ala)
c.70060C>G (p.Pro23354Ala)
c.51823C>G (p.Pro17275Ala)
c.41677C>G (p.Pro13893Ala)
2g.178567204G=CA1310529830TTN,TTN-AS1c.71224C= (p.Pro23742=)
c.52309C= (p.Pro17437=)
c.52108C= (p.Pro17370=)
c.51733C= (p.Pro17245=)
c.78928C= (p.Pro26310=)
c.74005C= (p.Pro24669=)
n.447-4096G=
n.2044-15368G=
c.78025C= (p.Pro26009=)
c.51919C= (p.Pro17307=)
c.51778C= (p.Pro17260=)
c.77821C= (p.Pro25941=)
c.73219C= (p.Pro24407=)
c.73216C= (p.Pro24406=)
c.70258C= (p.Pro23420=)
c.51874C= (p.Pro17292=)
c.73369C= (p.Pro24457=)
c.73366C= (p.Pro24456=)
c.72799C= (p.Pro24267=)
c.70141C= (p.Pro23381=)
c.70060C= (p.Pro23354=)
c.51823C= (p.Pro17275=)
c.41677C= (p.Pro13893=)
2g.178567204G>TCA349600557TTN,TTN-AS1c.71224C>A (p.Pro23742Thr)
c.52309C>A (p.Pro17437Thr)
c.52108C>A (p.Pro17370Thr)
c.51733C>A (p.Pro17245Thr)
c.78928C>A (p.Pro26310Thr)
c.74005C>A (p.Pro24669Thr)
n.447-4096G>T
n.2044-15368G>T
c.78025C>A (p.Pro26009Thr)
c.51919C>A (p.Pro17307Thr)
c.51778C>A (p.Pro17260Thr)
c.77821C>A (p.Pro25941Thr)
c.73219C>A (p.Pro24407Thr)
c.73216C>A (p.Pro24406Thr)
c.70258C>A (p.Pro23420Thr)
c.51874C>A (p.Pro17292Thr)
c.73369C>A (p.Pro24457Thr)
c.73366C>A (p.Pro24456Thr)
c.72799C>A (p.Pro24267Thr)
c.70141C>A (p.Pro23381Thr)
c.70060C>A (p.Pro23354Thr)
c.51823C>A (p.Pro17275Thr)
c.41677C>A (p.Pro13893Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.178567205A>CCA430252859TTN,TTN-AS1c.71223T>G (p.Ser23741=)
c.52308T>G (p.Ser17436=)
c.52107T>G (p.Ser17369=)
c.51732T>G (p.Ser17244=)
c.78927T>G (p.Ser26309=)
c.74004T>G (p.Ser24668=)
n.447-4095A>C
n.2044-15367A>C
c.78024T>G (p.Ser26008=)
c.51918T>G (p.Ser17306=)
c.51777T>G (p.Ser17259=)
c.77820T>G (p.Ser25940=)
c.73218T>G (p.Ser24406=)
c.73215T>G (p.Ser24405=)
c.70257T>G (p.Ser23419=)
c.51873T>G (p.Ser17291=)
c.73368T>G (p.Ser24456=)
c.73365T>G (p.Ser24455=)
c.72798T>G (p.Ser24266=)
c.70140T>G (p.Ser23380=)
c.70059T>G (p.Ser23353=)
c.51822T>G (p.Ser17274=)
c.41676T>G (p.Ser13892=)
2g.178567205A>GCA430252860TTN,TTN-AS1c.71223T>C (p.Ser23741=)
c.52308T>C (p.Ser17436=)
c.52107T>C (p.Ser17369=)
c.51732T>C (p.Ser17244=)
c.78927T>C (p.Ser26309=)
c.74004T>C (p.Ser24668=)
n.447-4095A>G
n.2044-15367A>G
c.78024T>C (p.Ser26008=)
c.51918T>C (p.Ser17306=)
c.51777T>C (p.Ser17259=)
c.77820T>C (p.Ser25940=)
c.73218T>C (p.Ser24406=)
c.73215T>C (p.Ser24405=)
c.70257T>C (p.Ser23419=)
c.51873T>C (p.Ser17291=)
c.73368T>C (p.Ser24456=)
c.73365T>C (p.Ser24455=)
c.72798T>C (p.Ser24266=)
c.70140T>C (p.Ser23380=)
c.70059T>C (p.Ser23353=)
c.51822T>C (p.Ser17274=)
c.41676T>C (p.Ser13892=)
2g.178567205A>TCA430252861TTN,TTN-AS1c.71223T>A (p.Ser23741=)
c.52308T>A (p.Ser17436=)
c.52107T>A (p.Ser17369=)
c.51732T>A (p.Ser17244=)
c.78927T>A (p.Ser26309=)
c.74004T>A (p.Ser24668=)
n.447-4095A>T
n.2044-15367A>T
c.78024T>A (p.Ser26008=)
c.51918T>A (p.Ser17306=)
c.51777T>A (p.Ser17259=)
c.77820T>A (p.Ser25940=)
c.73218T>A (p.Ser24406=)
c.73215T>A (p.Ser24405=)
c.70257T>A (p.Ser23419=)
c.51873T>A (p.Ser17291=)
c.73368T>A (p.Ser24456=)
c.73365T>A (p.Ser24455=)
c.72798T>A (p.Ser24266=)
c.70140T>A (p.Ser23380=)
c.70059T>A (p.Ser23353=)
c.51822T>A (p.Ser17274=)
c.41676T>A (p.Ser13892=)
2g.178567206G>ACA349600561TTN,TTN-AS1c.71222C>T (p.Ser23741Phe)
c.52307C>T (p.Ser17436Phe)
c.52106C>T (p.Ser17369Phe)
c.51731C>T (p.Ser17244Phe)
c.78926C>T (p.Ser26309Phe)
c.74003C>T (p.Ser24668Phe)
n.447-4094G>A
n.2044-15366G>A
c.78023C>T (p.Ser26008Phe)
c.51917C>T (p.Ser17306Phe)
c.51776C>T (p.Ser17259Phe)
c.77819C>T (p.Ser25940Phe)
c.73217C>T (p.Ser24406Phe)
c.73214C>T (p.Ser24405Phe)
c.70256C>T (p.Ser23419Phe)
c.51872C>T (p.Ser17291Phe)
c.73367C>T (p.Ser24456Phe)
c.73364C>T (p.Ser24455Phe)
c.72797C>T (p.Ser24266Phe)
c.70139C>T (p.Ser23380Phe)
c.70058C>T (p.Ser23353Phe)
c.51821C>T (p.Ser17274Phe)
c.41675C>T (p.Ser13892Phe)
2g.178567206G>CCA349600563TTN,TTN-AS1c.71222C>G (p.Ser23741Cys)
c.52307C>G (p.Ser17436Cys)
c.52106C>G (p.Ser17369Cys)
c.51731C>G (p.Ser17244Cys)
c.78926C>G (p.Ser26309Cys)
c.74003C>G (p.Ser24668Cys)
n.447-4094G>C
n.2044-15366G>C
c.78023C>G (p.Ser26008Cys)
c.51917C>G (p.Ser17306Cys)
c.51776C>G (p.Ser17259Cys)
c.77819C>G (p.Ser25940Cys)
c.73217C>G (p.Ser24406Cys)
c.73214C>G (p.Ser24405Cys)
c.70256C>G (p.Ser23419Cys)
c.51872C>G (p.Ser17291Cys)
c.73367C>G (p.Ser24456Cys)
c.73364C>G (p.Ser24455Cys)
c.72797C>G (p.Ser24266Cys)
c.70139C>G (p.Ser23380Cys)
c.70058C>G (p.Ser23353Cys)
c.51821C>G (p.Ser17274Cys)
c.41675C>G (p.Ser13892Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.178567206G=CA1310529831TTN,TTN-AS1c.71222C= (p.Ser23741=)
c.52307C= (p.Ser17436=)
c.52106C= (p.Ser17369=)
c.51731C= (p.Ser17244=)
c.78926C= (p.Ser26309=)
c.74003C= (p.Ser24668=)
n.447-4094G=
n.2044-15366G=
c.78023C= (p.Ser26008=)
c.51917C= (p.Ser17306=)
c.51776C= (p.Ser17259=)
c.77819C= (p.Ser25940=)
c.73217C= (p.Ser24406=)
c.73214C= (p.Ser24405=)
c.70256C= (p.Ser23419=)
c.51872C= (p.Ser17291=)
c.73367C= (p.Ser24456=)
c.73364C= (p.Ser24455=)
c.72797C= (p.Ser24266=)
c.70139C= (p.Ser23380=)
c.70058C= (p.Ser23353=)
c.51821C= (p.Ser17274=)
c.41675C= (p.Ser13892=)
2g.178567206G>TCA349600564TTN,TTN-AS1c.71222C>A (p.Ser23741Tyr)
c.52307C>A (p.Ser17436Tyr)
c.52106C>A (p.Ser17369Tyr)
c.51731C>A (p.Ser17244Tyr)
c.78926C>A (p.Ser26309Tyr)
c.74003C>A (p.Ser24668Tyr)
n.447-4094G>T
n.2044-15366G>T
c.78023C>A (p.Ser26008Tyr)
c.51917C>A (p.Ser17306Tyr)
c.51776C>A (p.Ser17259Tyr)
c.77819C>A (p.Ser25940Tyr)
c.73217C>A (p.Ser24406Tyr)
c.73214C>A (p.Ser24405Tyr)
c.70256C>A (p.Ser23419Tyr)
c.51872C>A (p.Ser17291Tyr)
c.73367C>A (p.Ser24456Tyr)
c.73364C>A (p.Ser24455Tyr)
c.72797C>A (p.Ser24266Tyr)
c.70139C>A (p.Ser23380Tyr)
c.70058C>A (p.Ser23353Tyr)
c.51821C>A (p.Ser17274Tyr)
c.41675C>A (p.Ser13892Tyr)
 COSMIC COSMIC COSMIC COSMIC
2g.178567207A=CA1310529832TTN,TTN-AS1c.71221T= (p.Ser23741=)
c.52306T= (p.Ser17436=)
c.52105T= (p.Ser17369=)
c.51730T= (p.Ser17244=)
c.78925T= (p.Ser26309=)
c.74002T= (p.Ser24668=)
n.447-4093A=
n.2044-15365A=
c.78022T= (p.Ser26008=)
c.51916T= (p.Ser17306=)
c.51775T= (p.Ser17259=)
c.77818T= (p.Ser25940=)
c.73216T= (p.Ser24406=)
c.73213T= (p.Ser24405=)
c.70255T= (p.Ser23419=)
c.51871T= (p.Ser17291=)
c.73366T= (p.Ser24456=)
c.73363T= (p.Ser24455=)
c.72796T= (p.Ser24266=)
c.70138T= (p.Ser23380=)
c.70057T= (p.Ser23353=)
c.51820T= (p.Ser17274=)
c.41674T= (p.Ser13892=)
2g.178567207A>CCA349600567TTN,TTN-AS1c.71221T>G (p.Ser23741Ala)
c.52306T>G (p.Ser17436Ala)
c.52105T>G (p.Ser17369Ala)
c.51730T>G (p.Ser17244Ala)
c.78925T>G (p.Ser26309Ala)
c.74002T>G (p.Ser24668Ala)
n.447-4093A>C
n.2044-15365A>C
c.78022T>G (p.Ser26008Ala)
c.51916T>G (p.Ser17306Ala)
c.51775T>G (p.Ser17259Ala)
c.77818T>G (p.Ser25940Ala)
c.73216T>G (p.Ser24406Ala)
c.73213T>G (p.Ser24405Ala)
c.70255T>G (p.Ser23419Ala)
c.51871T>G (p.Ser17291Ala)
c.73366T>G (p.Ser24456Ala)
c.73363T>G (p.Ser24455Ala)
c.72796T>G (p.Ser24266Ala)
c.70138T>G (p.Ser23380Ala)
c.70057T>G (p.Ser23353Ala)
c.51820T>G (p.Ser17274Ala)
c.41674T>G (p.Ser13892Ala)
2g.178567207A>GCA349600569TTN,TTN-AS1c.71221T>C (p.Ser23741Pro)
c.52306T>C (p.Ser17436Pro)
c.52105T>C (p.Ser17369Pro)
c.51730T>C (p.Ser17244Pro)
c.78925T>C (p.Ser26309Pro)
c.74002T>C (p.Ser24668Pro)
n.447-4093A>G
n.2044-15365A>G
c.78022T>C (p.Ser26008Pro)
c.51916T>C (p.Ser17306Pro)
c.51775T>C (p.Ser17259Pro)
c.77818T>C (p.Ser25940Pro)
c.73216T>C (p.Ser24406Pro)
c.73213T>C (p.Ser24405Pro)
c.70255T>C (p.Ser23419Pro)
c.51871T>C (p.Ser17291Pro)
c.73366T>C (p.Ser24456Pro)
c.73363T>C (p.Ser24455Pro)
c.72796T>C (p.Ser24266Pro)
c.70138T>C (p.Ser23380Pro)
c.70057T>C (p.Ser23353Pro)
c.51820T>C (p.Ser17274Pro)
c.41674T>C (p.Ser13892Pro)
2g.178567207A>TCA310602TTN,TTN-AS1c.71221T>A (p.Ser23741Thr)
c.52306T>A (p.Ser17436Thr)
c.52105T>A (p.Ser17369Thr)
c.51730T>A (p.Ser17244Thr)
c.78925T>A (p.Ser26309Thr)
c.74002T>A (p.Ser24668Thr)
n.447-4093A>T
n.2044-15365A>T
c.78022T>A (p.Ser26008Thr)
c.51916T>A (p.Ser17306Thr)
c.51775T>A (p.Ser17259Thr)
c.77818T>A (p.Ser25940Thr)
c.73216T>A (p.Ser24406Thr)
c.73213T>A (p.Ser24405Thr)
c.70255T>A (p.Ser23419Thr)
c.51871T>A (p.Ser17291Thr)
c.73366T>A (p.Ser24456Thr)
c.73363T>A (p.Ser24455Thr)
c.72796T>A (p.Ser24266Thr)
c.70138T>A (p.Ser23380Thr)
c.70057T>A (p.Ser23353Thr)
c.51820T>A (p.Ser17274Thr)
c.41674T>A (p.Ser13892Thr)
 ClinVar dbSNP gnomAD v4
2g.178567208C>ACA349600572TTN,TTN-AS1c.71220G>T (p.Trp23740Cys)
c.52305G>T (p.Trp17435Cys)
c.52104G>T (p.Trp17368Cys)
c.51729G>T (p.Trp17243Cys)
c.78924G>T (p.Trp26308Cys)
c.74001G>T (p.Trp24667Cys)
n.447-4092C>A
n.2044-15364C>A
c.78021G>T (p.Trp26007Cys)
c.51915G>T (p.Trp17305Cys)
c.51774G>T (p.Trp17258Cys)
c.77817G>T (p.Trp25939Cys)
c.73215G>T (p.Trp24405Cys)
c.73212G>T (p.Trp24404Cys)
c.70254G>T (p.Trp23418Cys)
c.51870G>T (p.Trp17290Cys)
c.73365G>T (p.Trp24455Cys)
c.73362G>T (p.Trp24454Cys)
c.72795G>T (p.Trp24265Cys)
c.70137G>T (p.Trp23379Cys)
c.70056G>T (p.Trp23352Cys)
c.51819G>T (p.Trp17273Cys)
c.41673G>T (p.Trp13891Cys)
 gnomAD v4
2g.178567208C=CA1310529833TTN,TTN-AS1c.71220G= (p.Trp23740=)
c.52305G= (p.Trp17435=)
c.52104G= (p.Trp17368=)
c.51729G= (p.Trp17243=)
c.78924G= (p.Trp26308=)
c.74001G= (p.Trp24667=)
n.447-4092C=
n.2044-15364C=
c.78021G= (p.Trp26007=)
c.51915G= (p.Trp17305=)
c.51774G= (p.Trp17258=)
c.77817G= (p.Trp25939=)
c.73215G= (p.Trp24405=)
c.73212G= (p.Trp24404=)
c.70254G= (p.Trp23418=)
c.51870G= (p.Trp17290=)
c.73365G= (p.Trp24455=)
c.73362G= (p.Trp24454=)
c.72795G= (p.Trp24265=)
c.70137G= (p.Trp23379=)
c.70056G= (p.Trp23352=)
c.51819G= (p.Trp17273=)
c.41673G= (p.Trp13891=)
2g.178567208C>GCA349600574TTN,TTN-AS1c.71220G>C (p.Trp23740Cys)
c.52305G>C (p.Trp17435Cys)
c.52104G>C (p.Trp17368Cys)
c.51729G>C (p.Trp17243Cys)
c.78924G>C (p.Trp26308Cys)
c.74001G>C (p.Trp24667Cys)
n.447-4092C>G
n.2044-15364C>G
c.78021G>C (p.Trp26007Cys)
c.51915G>C (p.Trp17305Cys)
c.51774G>C (p.Trp17258Cys)
c.77817G>C (p.Trp25939Cys)
c.73215G>C (p.Trp24405Cys)
c.73212G>C (p.Trp24404Cys)
c.70254G>C (p.Trp23418Cys)
c.51870G>C (p.Trp17290Cys)
c.73365G>C (p.Trp24455Cys)
c.73362G>C (p.Trp24454Cys)
c.72795G>C (p.Trp24265Cys)
c.70137G>C (p.Trp23379Cys)
c.70056G>C (p.Trp23352Cys)
c.51819G>C (p.Trp17273Cys)
c.41673G>C (p.Trp13891Cys)
2g.178567208C>TCA349600575TTN,TTN-AS1c.71220G>A (p.Trp23740Ter)
c.52305G>A (p.Trp17435Ter)
c.52104G>A (p.Trp17368Ter)
c.51729G>A (p.Trp17243Ter)
c.78924G>A (p.Trp26308Ter)
c.74001G>A (p.Trp24667Ter)
n.447-4092C>T
n.2044-15364C>T
c.78021G>A (p.Trp26007Ter)
c.51915G>A (p.Trp17305Ter)
c.51774G>A (p.Trp17258Ter)
c.77817G>A (p.Trp25939Ter)
c.73215G>A (p.Trp24405Ter)
c.73212G>A (p.Trp24404Ter)
c.70254G>A (p.Trp23418Ter)
c.51870G>A (p.Trp17290Ter)
c.73365G>A (p.Trp24455Ter)
c.73362G>A (p.Trp24454Ter)
c.72795G>A (p.Trp24265Ter)
c.70137G>A (p.Trp23379Ter)
c.70056G>A (p.Trp23352Ter)
c.51819G>A (p.Trp17273Ter)
c.41673G>A (p.Trp13891Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178567209C>ACA349600582TTN,TTN-AS1c.71219G>T (p.Trp23740Leu)
c.52304G>T (p.Trp17435Leu)
c.52103G>T (p.Trp17368Leu)
c.51728G>T (p.Trp17243Leu)
c.78923G>T (p.Trp26308Leu)
c.74000G>T (p.Trp24667Leu)
n.447-4091C>A
n.2044-15363C>A
c.78020G>T (p.Trp26007Leu)
c.51914G>T (p.Trp17305Leu)
c.51773G>T (p.Trp17258Leu)
c.77816G>T (p.Trp25939Leu)
c.73214G>T (p.Trp24405Leu)
c.73211G>T (p.Trp24404Leu)
c.70253G>T (p.Trp23418Leu)
c.51869G>T (p.Trp17290Leu)
c.73364G>T (p.Trp24455Leu)
c.73361G>T (p.Trp24454Leu)
c.72794G>T (p.Trp24265Leu)
c.70136G>T (p.Trp23379Leu)
c.70055G>T (p.Trp23352Leu)
c.51818G>T (p.Trp17273Leu)
c.41672G>T (p.Trp13891Leu)
2g.178567209C=CA1310529834TTN,TTN-AS1c.71219G= (p.Trp23740=)
c.52304G= (p.Trp17435=)
c.52103G= (p.Trp17368=)
c.51728G= (p.Trp17243=)
c.78923G= (p.Trp26308=)
c.74000G= (p.Trp24667=)
n.447-4091C=
n.2044-15363C=
c.78020G= (p.Trp26007=)
c.51914G= (p.Trp17305=)
c.51773G= (p.Trp17258=)
c.77816G= (p.Trp25939=)
c.73214G= (p.Trp24405=)
c.73211G= (p.Trp24404=)
c.70253G= (p.Trp23418=)
c.51869G= (p.Trp17290=)
c.73364G= (p.Trp24455=)
c.73361G= (p.Trp24454=)
c.72794G= (p.Trp24265=)
c.70136G= (p.Trp23379=)
c.70055G= (p.Trp23352=)
c.51818G= (p.Trp17273=)
c.41672G= (p.Trp13891=)
2g.178567209C>GCA349600580TTN,TTN-AS1c.71219G>C (p.Trp23740Ser)
c.52304G>C (p.Trp17435Ser)
c.52103G>C (p.Trp17368Ser)
c.51728G>C (p.Trp17243Ser)
c.78923G>C (p.Trp26308Ser)
c.74000G>C (p.Trp24667Ser)
n.447-4091C>G
n.2044-15363C>G
c.78020G>C (p.Trp26007Ser)
c.51914G>C (p.Trp17305Ser)
c.51773G>C (p.Trp17258Ser)
c.77816G>C (p.Trp25939Ser)
c.73214G>C (p.Trp24405Ser)
c.73211G>C (p.Trp24404Ser)
c.70253G>C (p.Trp23418Ser)
c.51869G>C (p.Trp17290Ser)
c.73364G>C (p.Trp24455Ser)
c.73361G>C (p.Trp24454Ser)
c.72794G>C (p.Trp24265Ser)
c.70136G>C (p.Trp23379Ser)
c.70055G>C (p.Trp23352Ser)
c.51818G>C (p.Trp17273Ser)
c.41672G>C (p.Trp13891Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.178567209C>TCA349600578TTN,TTN-AS1c.71219G>A (p.Trp23740Ter)
c.52304G>A (p.Trp17435Ter)
c.52103G>A (p.Trp17368Ter)
c.51728G>A (p.Trp17243Ter)
c.78923G>A (p.Trp26308Ter)
c.74000G>A (p.Trp24667Ter)
n.447-4091C>T
n.2044-15363C>T
c.78020G>A (p.Trp26007Ter)
c.51914G>A (p.Trp17305Ter)
c.51773G>A (p.Trp17258Ter)
c.77816G>A (p.Trp25939Ter)
c.73214G>A (p.Trp24405Ter)
c.73211G>A (p.Trp24404Ter)
c.70253G>A (p.Trp23418Ter)
c.51869G>A (p.Trp17290Ter)
c.73364G>A (p.Trp24455Ter)
c.73361G>A (p.Trp24454Ter)
c.72794G>A (p.Trp24265Ter)
c.70136G>A (p.Trp23379Ter)
c.70055G>A (p.Trp23352Ter)
c.51818G>A (p.Trp17273Ter)
c.41672G>A (p.Trp13891Ter)
 COSMIC COSMIC COSMIC COSMIC

Number of alleles fetched