Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178590909C>ACA430266204TTN,TTN-AS1c.53112G>T (p.Pro17704=)
c.34197G>T (p.Pro11399=)
c.33996G>T (p.Pro11332=)
c.33621G>T (p.Pro11207=)
c.60816G>T (p.Pro20272=)
c.55893G>T (p.Pro18631=)
n.597-6687C>A
n.3189-230C>A
c.59913G>T (p.Pro19971=)
c.33807G>T (p.Pro11269=)
c.33666G>T (p.Pro11222=)
c.59709G>T (p.Pro19903=)
c.55107G>T (p.Pro18369=)
c.55104G>T (p.Pro18368=)
c.52146G>T (p.Pro17382=)
c.33762G>T (p.Pro11254=)
c.55257G>T (p.Pro18419=)
c.55254G>T (p.Pro18418=)
c.54687G>T (p.Pro18229=)
c.52029G>T (p.Pro17343=)
c.51948G>T (p.Pro17316=)
c.33711G>T (p.Pro11237=)
c.23565G>T (p.Pro7855=)
2g.178590909C=CA1310539655TTN,TTN-AS1c.53112G= (p.Pro17704=)
c.34197G= (p.Pro11399=)
c.33996G= (p.Pro11332=)
c.33621G= (p.Pro11207=)
c.60816G= (p.Pro20272=)
c.55893G= (p.Pro18631=)
n.597-6687C=
n.3189-230C=
c.59913G= (p.Pro19971=)
c.33807G= (p.Pro11269=)
c.33666G= (p.Pro11222=)
c.59709G= (p.Pro19903=)
c.55107G= (p.Pro18369=)
c.55104G= (p.Pro18368=)
c.52146G= (p.Pro17382=)
c.33762G= (p.Pro11254=)
c.55257G= (p.Pro18419=)
c.55254G= (p.Pro18418=)
c.54687G= (p.Pro18229=)
c.52029G= (p.Pro17343=)
c.51948G= (p.Pro17316=)
c.33711G= (p.Pro11237=)
c.23565G= (p.Pro7855=)
2g.178590909C>GCA430266207TTN,TTN-AS1c.53112G>C (p.Pro17704=)
c.34197G>C (p.Pro11399=)
c.33996G>C (p.Pro11332=)
c.33621G>C (p.Pro11207=)
c.60816G>C (p.Pro20272=)
c.55893G>C (p.Pro18631=)
n.597-6687C>G
n.3189-230C>G
c.59913G>C (p.Pro19971=)
c.33807G>C (p.Pro11269=)
c.33666G>C (p.Pro11222=)
c.59709G>C (p.Pro19903=)
c.55107G>C (p.Pro18369=)
c.55104G>C (p.Pro18368=)
c.52146G>C (p.Pro17382=)
c.33762G>C (p.Pro11254=)
c.55257G>C (p.Pro18419=)
c.55254G>C (p.Pro18418=)
c.54687G>C (p.Pro18229=)
c.52029G>C (p.Pro17343=)
c.51948G>C (p.Pro17316=)
c.33711G>C (p.Pro11237=)
c.23565G>C (p.Pro7855=)
2g.178590909C>TCA183278TTN,TTN-AS1c.53112G>A (p.Pro17704=)
c.34197G>A (p.Pro11399=)
c.33996G>A (p.Pro11332=)
c.33621G>A (p.Pro11207=)
c.60816G>A (p.Pro20272=)
c.55893G>A (p.Pro18631=)
n.597-6687C>T
n.3189-230C>T
c.59913G>A (p.Pro19971=)
c.33807G>A (p.Pro11269=)
c.33666G>A (p.Pro11222=)
c.59709G>A (p.Pro19903=)
c.55107G>A (p.Pro18369=)
c.55104G>A (p.Pro18368=)
c.52146G>A (p.Pro17382=)
c.33762G>A (p.Pro11254=)
c.55257G>A (p.Pro18419=)
c.55254G>A (p.Pro18418=)
c.54687G>A (p.Pro18229=)
c.52029G>A (p.Pro17343=)
c.51948G>A (p.Pro17316=)
c.33711G>A (p.Pro11237=)
c.23565G>A (p.Pro7855=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178590910G>ACA1992443TTN,TTN-AS1c.53111C>T (p.Pro17704Leu)
c.34196C>T (p.Pro11399Leu)
c.33995C>T (p.Pro11332Leu)
c.33620C>T (p.Pro11207Leu)
c.60815C>T (p.Pro20272Leu)
c.55892C>T (p.Pro18631Leu)
n.597-6686G>A
n.3189-229G>A
c.59912C>T (p.Pro19971Leu)
c.33806C>T (p.Pro11269Leu)
c.33665C>T (p.Pro11222Leu)
c.59708C>T (p.Pro19903Leu)
c.55106C>T (p.Pro18369Leu)
c.55103C>T (p.Pro18368Leu)
c.52145C>T (p.Pro17382Leu)
c.33761C>T (p.Pro11254Leu)
c.55256C>T (p.Pro18419Leu)
c.55253C>T (p.Pro18418Leu)
c.54686C>T (p.Pro18229Leu)
c.52028C>T (p.Pro17343Leu)
c.51947C>T (p.Pro17316Leu)
c.33710C>T (p.Pro11237Leu)
c.23564C>T (p.Pro7855Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178590910G>CCA349479279TTN,TTN-AS1c.53111C>G (p.Pro17704Arg)
c.34196C>G (p.Pro11399Arg)
c.33995C>G (p.Pro11332Arg)
c.33620C>G (p.Pro11207Arg)
c.60815C>G (p.Pro20272Arg)
c.55892C>G (p.Pro18631Arg)
n.597-6686G>C
n.3189-229G>C
c.59912C>G (p.Pro19971Arg)
c.33806C>G (p.Pro11269Arg)
c.33665C>G (p.Pro11222Arg)
c.59708C>G (p.Pro19903Arg)
c.55106C>G (p.Pro18369Arg)
c.55103C>G (p.Pro18368Arg)
c.52145C>G (p.Pro17382Arg)
c.33761C>G (p.Pro11254Arg)
c.55256C>G (p.Pro18419Arg)
c.55253C>G (p.Pro18418Arg)
c.54686C>G (p.Pro18229Arg)
c.52028C>G (p.Pro17343Arg)
c.51947C>G (p.Pro17316Arg)
c.33710C>G (p.Pro11237Arg)
c.23564C>G (p.Pro7855Arg)
2g.178590910G=CA1310539657TTN,TTN-AS1c.53111C= (p.Pro17704=)
c.34196C= (p.Pro11399=)
c.33995C= (p.Pro11332=)
c.33620C= (p.Pro11207=)
c.60815C= (p.Pro20272=)
c.55892C= (p.Pro18631=)
n.597-6686G=
n.3189-229G=
c.59912C= (p.Pro19971=)
c.33806C= (p.Pro11269=)
c.33665C= (p.Pro11222=)
c.59708C= (p.Pro19903=)
c.55106C= (p.Pro18369=)
c.55103C= (p.Pro18368=)
c.52145C= (p.Pro17382=)
c.33761C= (p.Pro11254=)
c.55256C= (p.Pro18419=)
c.55253C= (p.Pro18418=)
c.54686C= (p.Pro18229=)
c.52028C= (p.Pro17343=)
c.51947C= (p.Pro17316=)
c.33710C= (p.Pro11237=)
c.23564C= (p.Pro7855=)
2g.178590910G>TCA349479280TTN,TTN-AS1c.53111C>A (p.Pro17704Gln)
c.34196C>A (p.Pro11399Gln)
c.33995C>A (p.Pro11332Gln)
c.33620C>A (p.Pro11207Gln)
c.60815C>A (p.Pro20272Gln)
c.55892C>A (p.Pro18631Gln)
n.597-6686G>T
n.3189-229G>T
c.59912C>A (p.Pro19971Gln)
c.33806C>A (p.Pro11269Gln)
c.33665C>A (p.Pro11222Gln)
c.59708C>A (p.Pro19903Gln)
c.55106C>A (p.Pro18369Gln)
c.55103C>A (p.Pro18368Gln)
c.52145C>A (p.Pro17382Gln)
c.33761C>A (p.Pro11254Gln)
c.55256C>A (p.Pro18419Gln)
c.55253C>A (p.Pro18418Gln)
c.54686C>A (p.Pro18229Gln)
c.52028C>A (p.Pro17343Gln)
c.51947C>A (p.Pro17316Gln)
c.33710C>A (p.Pro11237Gln)
c.23564C>A (p.Pro7855Gln)
2g.178590911G>ACA60968658TTN,TTN-AS1c.53110C>T (p.Pro17704Ser)
c.34195C>T (p.Pro11399Ser)
c.33994C>T (p.Pro11332Ser)
c.33619C>T (p.Pro11207Ser)
c.60814C>T (p.Pro20272Ser)
c.55891C>T (p.Pro18631Ser)
n.597-6685G>A
n.3189-228G>A
c.59911C>T (p.Pro19971Ser)
c.33805C>T (p.Pro11269Ser)
c.33664C>T (p.Pro11222Ser)
c.59707C>T (p.Pro19903Ser)
c.55105C>T (p.Pro18369Ser)
c.55102C>T (p.Pro18368Ser)
c.52144C>T (p.Pro17382Ser)
c.33760C>T (p.Pro11254Ser)
c.55255C>T (p.Pro18419Ser)
c.55252C>T (p.Pro18418Ser)
c.54685C>T (p.Pro18229Ser)
c.52027C>T (p.Pro17343Ser)
c.51946C>T (p.Pro17316Ser)
c.33709C>T (p.Pro11237Ser)
c.23563C>T (p.Pro7855Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178590911G>CCA349479284TTN,TTN-AS1c.53110C>G (p.Pro17704Ala)
c.34195C>G (p.Pro11399Ala)
c.33994C>G (p.Pro11332Ala)
c.33619C>G (p.Pro11207Ala)
c.60814C>G (p.Pro20272Ala)
c.55891C>G (p.Pro18631Ala)
n.597-6685G>C
n.3189-228G>C
c.59911C>G (p.Pro19971Ala)
c.33805C>G (p.Pro11269Ala)
c.33664C>G (p.Pro11222Ala)
c.59707C>G (p.Pro19903Ala)
c.55105C>G (p.Pro18369Ala)
c.55102C>G (p.Pro18368Ala)
c.52144C>G (p.Pro17382Ala)
c.33760C>G (p.Pro11254Ala)
c.55255C>G (p.Pro18419Ala)
c.55252C>G (p.Pro18418Ala)
c.54685C>G (p.Pro18229Ala)
c.52027C>G (p.Pro17343Ala)
c.51946C>G (p.Pro17316Ala)
c.33709C>G (p.Pro11237Ala)
c.23563C>G (p.Pro7855Ala)
2g.178590911G=CA1310539658TTN,TTN-AS1c.53110C= (p.Pro17704=)
c.34195C= (p.Pro11399=)
c.33994C= (p.Pro11332=)
c.33619C= (p.Pro11207=)
c.60814C= (p.Pro20272=)
c.55891C= (p.Pro18631=)
n.597-6685G=
n.3189-228G=
c.59911C= (p.Pro19971=)
c.33805C= (p.Pro11269=)
c.33664C= (p.Pro11222=)
c.59707C= (p.Pro19903=)
c.55105C= (p.Pro18369=)
c.55102C= (p.Pro18368=)
c.52144C= (p.Pro17382=)
c.33760C= (p.Pro11254=)
c.55255C= (p.Pro18419=)
c.55252C= (p.Pro18418=)
c.54685C= (p.Pro18229=)
c.52027C= (p.Pro17343=)
c.51946C= (p.Pro17316=)
c.33709C= (p.Pro11237=)
c.23563C= (p.Pro7855=)
2g.178590911G>TCA349479286TTN,TTN-AS1c.53110C>A (p.Pro17704Thr)
c.34195C>A (p.Pro11399Thr)
c.33994C>A (p.Pro11332Thr)
c.33619C>A (p.Pro11207Thr)
c.60814C>A (p.Pro20272Thr)
c.55891C>A (p.Pro18631Thr)
n.597-6685G>T
n.3189-228G>T
c.59911C>A (p.Pro19971Thr)
c.33805C>A (p.Pro11269Thr)
c.33664C>A (p.Pro11222Thr)
c.59707C>A (p.Pro19903Thr)
c.55105C>A (p.Pro18369Thr)
c.55102C>A (p.Pro18368Thr)
c.52144C>A (p.Pro17382Thr)
c.33760C>A (p.Pro11254Thr)
c.55255C>A (p.Pro18419Thr)
c.55252C>A (p.Pro18418Thr)
c.54685C>A (p.Pro18229Thr)
c.52027C>A (p.Pro17343Thr)
c.51946C>A (p.Pro17316Thr)
c.33709C>A (p.Pro11237Thr)
c.23563C>A (p.Pro7855Thr)
2g.178590912A>CCA430266210TTN,TTN-AS1c.53109T>G (p.Pro17703=)
c.34194T>G (p.Pro11398=)
c.33993T>G (p.Pro11331=)
c.33618T>G (p.Pro11206=)
c.60813T>G (p.Pro20271=)
c.55890T>G (p.Pro18630=)
n.597-6684A>C
n.3189-227A>C
c.59910T>G (p.Pro19970=)
c.33804T>G (p.Pro11268=)
c.33663T>G (p.Pro11221=)
c.59706T>G (p.Pro19902=)
c.55104T>G (p.Pro18368=)
c.55101T>G (p.Pro18367=)
c.52143T>G (p.Pro17381=)
c.33759T>G (p.Pro11253=)
c.55254T>G (p.Pro18418=)
c.55251T>G (p.Pro18417=)
c.54684T>G (p.Pro18228=)
c.52026T>G (p.Pro17342=)
c.51945T>G (p.Pro17315=)
c.33708T>G (p.Pro11236=)
c.23562T>G (p.Pro7854=)
2g.178590912A>GCA430266212TTN,TTN-AS1c.53109T>C (p.Pro17703=)
c.34194T>C (p.Pro11398=)
c.33993T>C (p.Pro11331=)
c.33618T>C (p.Pro11206=)
c.60813T>C (p.Pro20271=)
c.55890T>C (p.Pro18630=)
n.597-6684A>G
n.3189-227A>G
c.59910T>C (p.Pro19970=)
c.33804T>C (p.Pro11268=)
c.33663T>C (p.Pro11221=)
c.59706T>C (p.Pro19902=)
c.55104T>C (p.Pro18368=)
c.55101T>C (p.Pro18367=)
c.52143T>C (p.Pro17381=)
c.33759T>C (p.Pro11253=)
c.55254T>C (p.Pro18418=)
c.55251T>C (p.Pro18417=)
c.54684T>C (p.Pro18228=)
c.52026T>C (p.Pro17342=)
c.51945T>C (p.Pro17315=)
c.33708T>C (p.Pro11236=)
c.23562T>C (p.Pro7854=)
2g.178590912A>TCA430266215TTN,TTN-AS1c.53109T>A (p.Pro17703=)
c.34194T>A (p.Pro11398=)
c.33993T>A (p.Pro11331=)
c.33618T>A (p.Pro11206=)
c.60813T>A (p.Pro20271=)
c.55890T>A (p.Pro18630=)
n.597-6684A>T
n.3189-227A>T
c.59910T>A (p.Pro19970=)
c.33804T>A (p.Pro11268=)
c.33663T>A (p.Pro11221=)
c.59706T>A (p.Pro19902=)
c.55104T>A (p.Pro18368=)
c.55101T>A (p.Pro18367=)
c.52143T>A (p.Pro17381=)
c.33759T>A (p.Pro11253=)
c.55254T>A (p.Pro18418=)
c.55251T>A (p.Pro18417=)
c.54684T>A (p.Pro18228=)
c.52026T>A (p.Pro17342=)
c.51945T>A (p.Pro17315=)
c.33708T>A (p.Pro11236=)
c.23562T>A (p.Pro7854=)
 gnomAD v4
2g.178590913G>ACA349479295TTN,TTN-AS1c.53108C>T (p.Pro17703Leu)
c.34193C>T (p.Pro11398Leu)
c.33992C>T (p.Pro11331Leu)
c.33617C>T (p.Pro11206Leu)
c.60812C>T (p.Pro20271Leu)
c.55889C>T (p.Pro18630Leu)
n.597-6683G>A
n.3189-226G>A
c.59909C>T (p.Pro19970Leu)
c.33803C>T (p.Pro11268Leu)
c.33662C>T (p.Pro11221Leu)
c.59705C>T (p.Pro19902Leu)
c.55103C>T (p.Pro18368Leu)
c.55100C>T (p.Pro18367Leu)
c.52142C>T (p.Pro17381Leu)
c.33758C>T (p.Pro11253Leu)
c.55253C>T (p.Pro18418Leu)
c.55250C>T (p.Pro18417Leu)
c.54683C>T (p.Pro18228Leu)
c.52025C>T (p.Pro17342Leu)
c.51944C>T (p.Pro17315Leu)
c.33707C>T (p.Pro11236Leu)
c.23561C>T (p.Pro7854Leu)
2g.178590913G>CCA1992444TTN,TTN-AS1c.53108C>G (p.Pro17703Arg)
c.34193C>G (p.Pro11398Arg)
c.33992C>G (p.Pro11331Arg)
c.33617C>G (p.Pro11206Arg)
c.60812C>G (p.Pro20271Arg)
c.55889C>G (p.Pro18630Arg)
n.597-6683G>C
n.3189-226G>C
c.59909C>G (p.Pro19970Arg)
c.33803C>G (p.Pro11268Arg)
c.33662C>G (p.Pro11221Arg)
c.59705C>G (p.Pro19902Arg)
c.55103C>G (p.Pro18368Arg)
c.55100C>G (p.Pro18367Arg)
c.52142C>G (p.Pro17381Arg)
c.33758C>G (p.Pro11253Arg)
c.55253C>G (p.Pro18418Arg)
c.55250C>G (p.Pro18417Arg)
c.54683C>G (p.Pro18228Arg)
c.52025C>G (p.Pro17342Arg)
c.51944C>G (p.Pro17315Arg)
c.33707C>G (p.Pro11236Arg)
c.23561C>G (p.Pro7854Arg)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.178590913G=CA1310539659TTN,TTN-AS1c.53108C= (p.Pro17703=)
c.34193C= (p.Pro11398=)
c.33992C= (p.Pro11331=)
c.33617C= (p.Pro11206=)
c.60812C= (p.Pro20271=)
c.55889C= (p.Pro18630=)
n.597-6683G=
n.3189-226G=
c.59909C= (p.Pro19970=)
c.33803C= (p.Pro11268=)
c.33662C= (p.Pro11221=)
c.59705C= (p.Pro19902=)
c.55103C= (p.Pro18368=)
c.55100C= (p.Pro18367=)
c.52142C= (p.Pro17381=)
c.33758C= (p.Pro11253=)
c.55253C= (p.Pro18418=)
c.55250C= (p.Pro18417=)
c.54683C= (p.Pro18228=)
c.52025C= (p.Pro17342=)
c.51944C= (p.Pro17315=)
c.33707C= (p.Pro11236=)
c.23561C= (p.Pro7854=)
2g.178590913G>TCA349479310TTN,TTN-AS1c.53108C>A (p.Pro17703His)
c.34193C>A (p.Pro11398His)
c.33992C>A (p.Pro11331His)
c.33617C>A (p.Pro11206His)
c.60812C>A (p.Pro20271His)
c.55889C>A (p.Pro18630His)
n.597-6683G>T
n.3189-226G>T
c.59909C>A (p.Pro19970His)
c.33803C>A (p.Pro11268His)
c.33662C>A (p.Pro11221His)
c.59705C>A (p.Pro19902His)
c.55103C>A (p.Pro18368His)
c.55100C>A (p.Pro18367His)
c.52142C>A (p.Pro17381His)
c.33758C>A (p.Pro11253His)
c.55253C>A (p.Pro18418His)
c.55250C>A (p.Pro18417His)
c.54683C>A (p.Pro18228His)
c.52025C>A (p.Pro17342His)
c.51944C>A (p.Pro17315His)
c.33707C>A (p.Pro11236His)
c.23561C>A (p.Pro7854His)
2g.178590914G>ACA349479317TTN,TTN-AS1c.53107C>T (p.Pro17703Ser)
c.34192C>T (p.Pro11398Ser)
c.33991C>T (p.Pro11331Ser)
c.33616C>T (p.Pro11206Ser)
c.60811C>T (p.Pro20271Ser)
c.55888C>T (p.Pro18630Ser)
n.597-6682G>A
n.3189-225G>A
c.59908C>T (p.Pro19970Ser)
c.33802C>T (p.Pro11268Ser)
c.33661C>T (p.Pro11221Ser)
c.59704C>T (p.Pro19902Ser)
c.55102C>T (p.Pro18368Ser)
c.55099C>T (p.Pro18367Ser)
c.52141C>T (p.Pro17381Ser)
c.33757C>T (p.Pro11253Ser)
c.55252C>T (p.Pro18418Ser)
c.55249C>T (p.Pro18417Ser)
c.54682C>T (p.Pro18228Ser)
c.52024C>T (p.Pro17342Ser)
c.51943C>T (p.Pro17315Ser)
c.33706C>T (p.Pro11236Ser)
c.23560C>T (p.Pro7854Ser)
2g.178590914G>CCA349479315TTN,TTN-AS1c.53107C>G (p.Pro17703Ala)
c.34192C>G (p.Pro11398Ala)
c.33991C>G (p.Pro11331Ala)
c.33616C>G (p.Pro11206Ala)
c.60811C>G (p.Pro20271Ala)
c.55888C>G (p.Pro18630Ala)
n.597-6682G>C
n.3189-225G>C
c.59908C>G (p.Pro19970Ala)
c.33802C>G (p.Pro11268Ala)
c.33661C>G (p.Pro11221Ala)
c.59704C>G (p.Pro19902Ala)
c.55102C>G (p.Pro18368Ala)
c.55099C>G (p.Pro18367Ala)
c.52141C>G (p.Pro17381Ala)
c.33757C>G (p.Pro11253Ala)
c.55252C>G (p.Pro18418Ala)
c.55249C>G (p.Pro18417Ala)
c.54682C>G (p.Pro18228Ala)
c.52024C>G (p.Pro17342Ala)
c.51943C>G (p.Pro17315Ala)
c.33706C>G (p.Pro11236Ala)
c.23560C>G (p.Pro7854Ala)
 dbSNP
2g.178590914G=CA1310539661TTN,TTN-AS1c.53107C= (p.Pro17703=)
c.34192C= (p.Pro11398=)
c.33991C= (p.Pro11331=)
c.33616C= (p.Pro11206=)
c.60811C= (p.Pro20271=)
c.55888C= (p.Pro18630=)
n.597-6682G=
n.3189-225G=
c.59908C= (p.Pro19970=)
c.33802C= (p.Pro11268=)
c.33661C= (p.Pro11221=)
c.59704C= (p.Pro19902=)
c.55102C= (p.Pro18368=)
c.55099C= (p.Pro18367=)
c.52141C= (p.Pro17381=)
c.33757C= (p.Pro11253=)
c.55252C= (p.Pro18418=)
c.55249C= (p.Pro18417=)
c.54682C= (p.Pro18228=)
c.52024C= (p.Pro17342=)
c.51943C= (p.Pro17315=)
c.33706C= (p.Pro11236=)
c.23560C= (p.Pro7854=)
2g.178590914G>TCA10613278TTN,TTN-AS1c.53107C>A (p.Pro17703Thr)
c.34192C>A (p.Pro11398Thr)
c.33991C>A (p.Pro11331Thr)
c.33616C>A (p.Pro11206Thr)
c.60811C>A (p.Pro20271Thr)
c.55888C>A (p.Pro18630Thr)
n.597-6682G>T
n.3189-225G>T
c.59908C>A (p.Pro19970Thr)
c.33802C>A (p.Pro11268Thr)
c.33661C>A (p.Pro11221Thr)
c.59704C>A (p.Pro19902Thr)
c.55102C>A (p.Pro18368Thr)
c.55099C>A (p.Pro18367Thr)
c.52141C>A (p.Pro17381Thr)
c.33757C>A (p.Pro11253Thr)
c.55252C>A (p.Pro18418Thr)
c.55249C>A (p.Pro18417Thr)
c.54682C>A (p.Pro18228Thr)
c.52024C>A (p.Pro17342Thr)
c.51943C>A (p.Pro17315Thr)
c.33706C>A (p.Pro11236Thr)
c.23560C>A (p.Pro7854Thr)
 ClinVar dbSNP gnomAD v4
2g.178590915A>CCA349479326TTN,TTN-AS1c.53106T>G (p.Ser17702Arg)
c.34191T>G (p.Ser11397Arg)
c.33990T>G (p.Ser11330Arg)
c.33615T>G (p.Ser11205Arg)
c.60810T>G (p.Ser20270Arg)
c.55887T>G (p.Ser18629Arg)
n.597-6681A>C
n.3189-224A>C
c.59907T>G (p.Ser19969Arg)
c.33801T>G (p.Ser11267Arg)
c.33660T>G (p.Ser11220Arg)
c.59703T>G (p.Ser19901Arg)
c.55101T>G (p.Ser18367Arg)
c.55098T>G (p.Ser18366Arg)
c.52140T>G (p.Ser17380Arg)
c.33756T>G (p.Ser11252Arg)
c.55251T>G (p.Ser18417Arg)
c.55248T>G (p.Ser18416Arg)
c.54681T>G (p.Ser18227Arg)
c.52023T>G (p.Ser17341Arg)
c.51942T>G (p.Ser17314Arg)
c.33705T>G (p.Ser11235Arg)
c.23559T>G (p.Ser7853Arg)
 gnomAD v4
2g.178590915A>GCA430266217TTN,TTN-AS1c.53106T>C (p.Ser17702=)
c.34191T>C (p.Ser11397=)
c.33990T>C (p.Ser11330=)
c.33615T>C (p.Ser11205=)
c.60810T>C (p.Ser20270=)
c.55887T>C (p.Ser18629=)
n.597-6681A>G
n.3189-224A>G
c.59907T>C (p.Ser19969=)
c.33801T>C (p.Ser11267=)
c.33660T>C (p.Ser11220=)
c.59703T>C (p.Ser19901=)
c.55101T>C (p.Ser18367=)
c.55098T>C (p.Ser18366=)
c.52140T>C (p.Ser17380=)
c.33756T>C (p.Ser11252=)
c.55251T>C (p.Ser18417=)
c.55248T>C (p.Ser18416=)
c.54681T>C (p.Ser18227=)
c.52023T>C (p.Ser17341=)
c.51942T>C (p.Ser17314=)
c.33705T>C (p.Ser11235=)
c.23559T>C (p.Ser7853=)
2g.178590915A>TCA349479319TTN,TTN-AS1c.53106T>A (p.Ser17702Arg)
c.34191T>A (p.Ser11397Arg)
c.33990T>A (p.Ser11330Arg)
c.33615T>A (p.Ser11205Arg)
c.60810T>A (p.Ser20270Arg)
c.55887T>A (p.Ser18629Arg)
n.597-6681A>T
n.3189-224A>T
c.59907T>A (p.Ser19969Arg)
c.33801T>A (p.Ser11267Arg)
c.33660T>A (p.Ser11220Arg)
c.59703T>A (p.Ser19901Arg)
c.55101T>A (p.Ser18367Arg)
c.55098T>A (p.Ser18366Arg)
c.52140T>A (p.Ser17380Arg)
c.33756T>A (p.Ser11252Arg)
c.55251T>A (p.Ser18417Arg)
c.55248T>A (p.Ser18416Arg)
c.54681T>A (p.Ser18227Arg)
c.52023T>A (p.Ser17341Arg)
c.51942T>A (p.Ser17314Arg)
c.33705T>A (p.Ser11235Arg)
c.23559T>A (p.Ser7853Arg)
2g.178590916C>ACA349479334TTN,TTN-AS1c.53105G>T (p.Ser17702Ile)
c.34190G>T (p.Ser11397Ile)
c.33989G>T (p.Ser11330Ile)
c.33614G>T (p.Ser11205Ile)
c.60809G>T (p.Ser20270Ile)
c.55886G>T (p.Ser18629Ile)
n.597-6680C>A
n.3189-223C>A
c.59906G>T (p.Ser19969Ile)
c.33800G>T (p.Ser11267Ile)
c.33659G>T (p.Ser11220Ile)
c.59702G>T (p.Ser19901Ile)
c.55100G>T (p.Ser18367Ile)
c.55097G>T (p.Ser18366Ile)
c.52139G>T (p.Ser17380Ile)
c.33755G>T (p.Ser11252Ile)
c.55250G>T (p.Ser18417Ile)
c.55247G>T (p.Ser18416Ile)
c.54680G>T (p.Ser18227Ile)
c.52022G>T (p.Ser17341Ile)
c.51941G>T (p.Ser17314Ile)
c.33704G>T (p.Ser11235Ile)
c.23558G>T (p.Ser7853Ile)
2g.178590916C>GCA349479347TTN,TTN-AS1c.53105G>C (p.Ser17702Thr)
c.34190G>C (p.Ser11397Thr)
c.33989G>C (p.Ser11330Thr)
c.33614G>C (p.Ser11205Thr)
c.60809G>C (p.Ser20270Thr)
c.55886G>C (p.Ser18629Thr)
n.597-6680C>G
n.3189-223C>G
c.59906G>C (p.Ser19969Thr)
c.33800G>C (p.Ser11267Thr)
c.33659G>C (p.Ser11220Thr)
c.59702G>C (p.Ser19901Thr)
c.55100G>C (p.Ser18367Thr)
c.55097G>C (p.Ser18366Thr)
c.52139G>C (p.Ser17380Thr)
c.33755G>C (p.Ser11252Thr)
c.55250G>C (p.Ser18417Thr)
c.55247G>C (p.Ser18416Thr)
c.54680G>C (p.Ser18227Thr)
c.52022G>C (p.Ser17341Thr)
c.51941G>C (p.Ser17314Thr)
c.33704G>C (p.Ser11235Thr)
c.23558G>C (p.Ser7853Thr)
2g.178590916C>TCA349479349TTN,TTN-AS1c.53105G>A (p.Ser17702Asn)
c.34190G>A (p.Ser11397Asn)
c.33989G>A (p.Ser11330Asn)
c.33614G>A (p.Ser11205Asn)
c.60809G>A (p.Ser20270Asn)
c.55886G>A (p.Ser18629Asn)
n.597-6680C>T
n.3189-223C>T
c.59906G>A (p.Ser19969Asn)
c.33800G>A (p.Ser11267Asn)
c.33659G>A (p.Ser11220Asn)
c.59702G>A (p.Ser19901Asn)
c.55100G>A (p.Ser18367Asn)
c.55097G>A (p.Ser18366Asn)
c.52139G>A (p.Ser17380Asn)
c.33755G>A (p.Ser11252Asn)
c.55250G>A (p.Ser18417Asn)
c.55247G>A (p.Ser18416Asn)
c.54680G>A (p.Ser18227Asn)
c.52022G>A (p.Ser17341Asn)
c.51941G>A (p.Ser17314Asn)
c.33704G>A (p.Ser11235Asn)
c.23558G>A (p.Ser7853Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.178590917T>ACA349479353TTN,TTN-AS1c.53104A>T (p.Ser17702Cys)
c.34189A>T (p.Ser11397Cys)
c.33988A>T (p.Ser11330Cys)
c.33613A>T (p.Ser11205Cys)
c.60808A>T (p.Ser20270Cys)
c.55885A>T (p.Ser18629Cys)
n.597-6679T>A
n.3189-222T>A
c.59905A>T (p.Ser19969Cys)
c.33799A>T (p.Ser11267Cys)
c.33658A>T (p.Ser11220Cys)
c.59701A>T (p.Ser19901Cys)
c.55099A>T (p.Ser18367Cys)
c.55096A>T (p.Ser18366Cys)
c.52138A>T (p.Ser17380Cys)
c.33754A>T (p.Ser11252Cys)
c.55249A>T (p.Ser18417Cys)
c.55246A>T (p.Ser18416Cys)
c.54679A>T (p.Ser18227Cys)
c.52021A>T (p.Ser17341Cys)
c.51940A>T (p.Ser17314Cys)
c.33703A>T (p.Ser11235Cys)
c.23557A>T (p.Ser7853Cys)
2g.178590917T>CCA349479356TTN,TTN-AS1c.53104A>G (p.Ser17702Gly)
c.34189A>G (p.Ser11397Gly)
c.33988A>G (p.Ser11330Gly)
c.33613A>G (p.Ser11205Gly)
c.60808A>G (p.Ser20270Gly)
c.55885A>G (p.Ser18629Gly)
n.597-6679T>C
n.3189-222T>C
c.59905A>G (p.Ser19969Gly)
c.33799A>G (p.Ser11267Gly)
c.33658A>G (p.Ser11220Gly)
c.59701A>G (p.Ser19901Gly)
c.55099A>G (p.Ser18367Gly)
c.55096A>G (p.Ser18366Gly)
c.52138A>G (p.Ser17380Gly)
c.33754A>G (p.Ser11252Gly)
c.55249A>G (p.Ser18417Gly)
c.55246A>G (p.Ser18416Gly)
c.54679A>G (p.Ser18227Gly)
c.52021A>G (p.Ser17341Gly)
c.51940A>G (p.Ser17314Gly)
c.33703A>G (p.Ser11235Gly)
c.23557A>G (p.Ser7853Gly)
2g.178590917T>GCA349479361TTN,TTN-AS1c.53104A>C (p.Ser17702Arg)
c.34189A>C (p.Ser11397Arg)
c.33988A>C (p.Ser11330Arg)
c.33613A>C (p.Ser11205Arg)
c.60808A>C (p.Ser20270Arg)
c.55885A>C (p.Ser18629Arg)
n.597-6679T>G
n.3189-222T>G
c.59905A>C (p.Ser19969Arg)
c.33799A>C (p.Ser11267Arg)
c.33658A>C (p.Ser11220Arg)
c.59701A>C (p.Ser19901Arg)
c.55099A>C (p.Ser18367Arg)
c.55096A>C (p.Ser18366Arg)
c.52138A>C (p.Ser17380Arg)
c.33754A>C (p.Ser11252Arg)
c.55249A>C (p.Ser18417Arg)
c.55246A>C (p.Ser18416Arg)
c.54679A>C (p.Ser18227Arg)
c.52021A>C (p.Ser17341Arg)
c.51940A>C (p.Ser17314Arg)
c.33703A>C (p.Ser11235Arg)
c.23557A>C (p.Ser7853Arg)
2g.178590918A>CCA349479363TTN,TTN-AS1c.53103T>G (p.Phe17701Leu)
c.34188T>G (p.Phe11396Leu)
c.33987T>G (p.Phe11329Leu)
c.33612T>G (p.Phe11204Leu)
c.60807T>G (p.Phe20269Leu)
c.55884T>G (p.Phe18628Leu)
n.597-6678A>C
n.3189-221A>C
c.59904T>G (p.Phe19968Leu)
c.33798T>G (p.Phe11266Leu)
c.33657T>G (p.Phe11219Leu)
c.59700T>G (p.Phe19900Leu)
c.55098T>G (p.Phe18366Leu)
c.55095T>G (p.Phe18365Leu)
c.52137T>G (p.Phe17379Leu)
c.33753T>G (p.Phe11251Leu)
c.55248T>G (p.Phe18416Leu)
c.55245T>G (p.Phe18415Leu)
c.54678T>G (p.Phe18226Leu)
c.52020T>G (p.Phe17340Leu)
c.51939T>G (p.Phe17313Leu)
c.33702T>G (p.Phe11234Leu)
c.23556T>G (p.Phe7852Leu)
2g.178590918A>GCA430266220TTN,TTN-AS1c.53103T>C (p.Phe17701=)
c.34188T>C (p.Phe11396=)
c.33987T>C (p.Phe11329=)
c.33612T>C (p.Phe11204=)
c.60807T>C (p.Phe20269=)
c.55884T>C (p.Phe18628=)
n.597-6678A>G
n.3189-221A>G
c.59904T>C (p.Phe19968=)
c.33798T>C (p.Phe11266=)
c.33657T>C (p.Phe11219=)
c.59700T>C (p.Phe19900=)
c.55098T>C (p.Phe18366=)
c.55095T>C (p.Phe18365=)
c.52137T>C (p.Phe17379=)
c.33753T>C (p.Phe11251=)
c.55248T>C (p.Phe18416=)
c.55245T>C (p.Phe18415=)
c.54678T>C (p.Phe18226=)
c.52020T>C (p.Phe17340=)
c.51939T>C (p.Phe17313=)
c.33702T>C (p.Phe11234=)
c.23556T>C (p.Phe7852=)
 ClinVar
2g.178590918A>TCA349479369TTN,TTN-AS1c.53103T>A (p.Phe17701Leu)
c.34188T>A (p.Phe11396Leu)
c.33987T>A (p.Phe11329Leu)
c.33612T>A (p.Phe11204Leu)
c.60807T>A (p.Phe20269Leu)
c.55884T>A (p.Phe18628Leu)
n.597-6678A>T
n.3189-221A>T
c.59904T>A (p.Phe19968Leu)
c.33798T>A (p.Phe11266Leu)
c.33657T>A (p.Phe11219Leu)
c.59700T>A (p.Phe19900Leu)
c.55098T>A (p.Phe18366Leu)
c.55095T>A (p.Phe18365Leu)
c.52137T>A (p.Phe17379Leu)
c.33753T>A (p.Phe11251Leu)
c.55248T>A (p.Phe18416Leu)
c.55245T>A (p.Phe18415Leu)
c.54678T>A (p.Phe18226Leu)
c.52020T>A (p.Phe17340Leu)
c.51939T>A (p.Phe17313Leu)
c.33702T>A (p.Phe11234Leu)
c.23556T>A (p.Phe7852Leu)
2g.178590920delCA2662130787TTN,TTN-AS1c.53103del (p.Phe17701LeufsTer?)
c.34188del (p.Phe11396LeufsTer?)
c.33987del (p.Phe11329LeufsTer?)
c.33612del (p.Phe11204LeufsTer?)
c.60807del (p.Phe20269LeufsTer?)
c.55884del (p.Phe18628LeufsTer?)
n.597-6676del
n.3189-219del
c.59904del (p.Phe19968LeufsTer?)
c.33798del (p.Phe11266LeufsTer?)
c.33657del (p.Phe11219LeufsTer?)
c.59700del (p.Phe19900LeufsTer?)
c.55098del (p.Phe18366LeufsTer?)
c.55095del (p.Phe18365LeufsTer?)
c.52137del (p.Phe17379LeufsTer?)
c.33753del (p.Phe11251LeufsTer?)
c.55248del (p.Phe18416LeufsTer?)
c.55245del (p.Phe18415LeufsTer?)
c.54678del (p.Phe18226LeufsTer?)
c.52020del (p.Phe17340LeufsTer?)
c.51939del (p.Phe17313LeufsTer?)
c.33702del (p.Phe11234LeufsTer?)
c.23556del (p.Phe7852LeufsTer?)
 gnomAD v4
2g.178590919A>CCA349479371TTN,TTN-AS1c.53102T>G (p.Phe17701Cys)
c.34187T>G (p.Phe11396Cys)
c.33986T>G (p.Phe11329Cys)
c.33611T>G (p.Phe11204Cys)
c.60806T>G (p.Phe20269Cys)
c.55883T>G (p.Phe18628Cys)
n.597-6677A>C
n.3189-220A>C
c.59903T>G (p.Phe19968Cys)
c.33797T>G (p.Phe11266Cys)
c.33656T>G (p.Phe11219Cys)
c.59699T>G (p.Phe19900Cys)
c.55097T>G (p.Phe18366Cys)
c.55094T>G (p.Phe18365Cys)
c.52136T>G (p.Phe17379Cys)
c.33752T>G (p.Phe11251Cys)
c.55247T>G (p.Phe18416Cys)
c.55244T>G (p.Phe18415Cys)
c.54677T>G (p.Phe18226Cys)
c.52019T>G (p.Phe17340Cys)
c.51938T>G (p.Phe17313Cys)
c.33701T>G (p.Phe11234Cys)
c.23555T>G (p.Phe7852Cys)
2g.178590919A>GCA349479372TTN,TTN-AS1c.53102T>C (p.Phe17701Ser)
c.34187T>C (p.Phe11396Ser)
c.33986T>C (p.Phe11329Ser)
c.33611T>C (p.Phe11204Ser)
c.60806T>C (p.Phe20269Ser)
c.55883T>C (p.Phe18628Ser)
n.597-6677A>G
n.3189-220A>G
c.59903T>C (p.Phe19968Ser)
c.33797T>C (p.Phe11266Ser)
c.33656T>C (p.Phe11219Ser)
c.59699T>C (p.Phe19900Ser)
c.55097T>C (p.Phe18366Ser)
c.55094T>C (p.Phe18365Ser)
c.52136T>C (p.Phe17379Ser)
c.33752T>C (p.Phe11251Ser)
c.55247T>C (p.Phe18416Ser)
c.55244T>C (p.Phe18415Ser)
c.54677T>C (p.Phe18226Ser)
c.52019T>C (p.Phe17340Ser)
c.51938T>C (p.Phe17313Ser)
c.33701T>C (p.Phe11234Ser)
c.23555T>C (p.Phe7852Ser)
2g.178590919A>TCA349479373TTN,TTN-AS1c.53102T>A (p.Phe17701Tyr)
c.34187T>A (p.Phe11396Tyr)
c.33986T>A (p.Phe11329Tyr)
c.33611T>A (p.Phe11204Tyr)
c.60806T>A (p.Phe20269Tyr)
c.55883T>A (p.Phe18628Tyr)
n.597-6677A>T
n.3189-220A>T
c.59903T>A (p.Phe19968Tyr)
c.33797T>A (p.Phe11266Tyr)
c.33656T>A (p.Phe11219Tyr)
c.59699T>A (p.Phe19900Tyr)
c.55097T>A (p.Phe18366Tyr)
c.55094T>A (p.Phe18365Tyr)
c.52136T>A (p.Phe17379Tyr)
c.33752T>A (p.Phe11251Tyr)
c.55247T>A (p.Phe18416Tyr)
c.55244T>A (p.Phe18415Tyr)
c.54677T>A (p.Phe18226Tyr)
c.52019T>A (p.Phe17340Tyr)
c.51938T>A (p.Phe17313Tyr)
c.33701T>A (p.Phe11234Tyr)
c.23555T>A (p.Phe7852Tyr)
2g.178590920A=CA1310539664TTN,TTN-AS1c.53101T= (p.Phe17701=)
c.34186T= (p.Phe11396=)
c.33985T= (p.Phe11329=)
c.33610T= (p.Phe11204=)
c.60805T= (p.Phe20269=)
c.55882T= (p.Phe18628=)
n.597-6676A=
n.3189-219A=
c.59902T= (p.Phe19968=)
c.33796T= (p.Phe11266=)
c.33655T= (p.Phe11219=)
c.59698T= (p.Phe19900=)
c.55096T= (p.Phe18366=)
c.55093T= (p.Phe18365=)
c.52135T= (p.Phe17379=)
c.33751T= (p.Phe11251=)
c.55246T= (p.Phe18416=)
c.55243T= (p.Phe18415=)
c.54676T= (p.Phe18226=)
c.52018T= (p.Phe17340=)
c.51937T= (p.Phe17313=)
c.33700T= (p.Phe11234=)
c.23554T= (p.Phe7852=)
2g.178590920A>CCA349479378TTN,TTN-AS1c.53101T>G (p.Phe17701Val)
c.34186T>G (p.Phe11396Val)
c.33985T>G (p.Phe11329Val)
c.33610T>G (p.Phe11204Val)
c.60805T>G (p.Phe20269Val)
c.55882T>G (p.Phe18628Val)
n.597-6676A>C
n.3189-219A>C
c.59902T>G (p.Phe19968Val)
c.33796T>G (p.Phe11266Val)
c.33655T>G (p.Phe11219Val)
c.59698T>G (p.Phe19900Val)
c.55096T>G (p.Phe18366Val)
c.55093T>G (p.Phe18365Val)
c.52135T>G (p.Phe17379Val)
c.33751T>G (p.Phe11251Val)
c.55246T>G (p.Phe18416Val)
c.55243T>G (p.Phe18415Val)
c.54676T>G (p.Phe18226Val)
c.52018T>G (p.Phe17340Val)
c.51937T>G (p.Phe17313Val)
c.33700T>G (p.Phe11234Val)
c.23554T>G (p.Phe7852Val)
2g.178590920A>GCA1992445TTN,TTN-AS1c.53101T>C (p.Phe17701Leu)
c.34186T>C (p.Phe11396Leu)
c.33985T>C (p.Phe11329Leu)
c.33610T>C (p.Phe11204Leu)
c.60805T>C (p.Phe20269Leu)
c.55882T>C (p.Phe18628Leu)
n.597-6676A>G
n.3189-219A>G
c.59902T>C (p.Phe19968Leu)
c.33796T>C (p.Phe11266Leu)
c.33655T>C (p.Phe11219Leu)
c.59698T>C (p.Phe19900Leu)
c.55096T>C (p.Phe18366Leu)
c.55093T>C (p.Phe18365Leu)
c.52135T>C (p.Phe17379Leu)
c.33751T>C (p.Phe11251Leu)
c.55246T>C (p.Phe18416Leu)
c.55243T>C (p.Phe18415Leu)
c.54676T>C (p.Phe18226Leu)
c.52018T>C (p.Phe17340Leu)
c.51937T>C (p.Phe17313Leu)
c.33700T>C (p.Phe11234Leu)
c.23554T>C (p.Phe7852Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178590920A>TCA349479375TTN,TTN-AS1c.53101T>A (p.Phe17701Ile)
c.34186T>A (p.Phe11396Ile)
c.33985T>A (p.Phe11329Ile)
c.33610T>A (p.Phe11204Ile)
c.60805T>A (p.Phe20269Ile)
c.55882T>A (p.Phe18628Ile)
n.597-6676A>T
n.3189-219A>T
c.59902T>A (p.Phe19968Ile)
c.33796T>A (p.Phe11266Ile)
c.33655T>A (p.Phe11219Ile)
c.59698T>A (p.Phe19900Ile)
c.55096T>A (p.Phe18366Ile)
c.55093T>A (p.Phe18365Ile)
c.52135T>A (p.Phe17379Ile)
c.33751T>A (p.Phe11251Ile)
c.55246T>A (p.Phe18416Ile)
c.55243T>A (p.Phe18415Ile)
c.54676T>A (p.Phe18226Ile)
c.52018T>A (p.Phe17340Ile)
c.51937T>A (p.Phe17313Ile)
c.33700T>A (p.Phe11234Ile)
c.23554T>A (p.Phe7852Ile)
2g.178590921T>ACA349479380TTN,TTN-AS1c.53100A>T (p.Lys17700Asn)
c.34185A>T (p.Lys11395Asn)
c.33984A>T (p.Lys11328Asn)
c.33609A>T (p.Lys11203Asn)
c.60804A>T (p.Lys20268Asn)
c.55881A>T (p.Lys18627Asn)
n.597-6675T>A
n.3189-218T>A
c.59901A>T (p.Lys19967Asn)
c.33795A>T (p.Lys11265Asn)
c.33654A>T (p.Lys11218Asn)
c.59697A>T (p.Lys19899Asn)
c.55095A>T (p.Lys18365Asn)
c.55092A>T (p.Lys18364Asn)
c.52134A>T (p.Lys17378Asn)
c.33750A>T (p.Lys11250Asn)
c.55245A>T (p.Lys18415Asn)
c.55242A>T (p.Lys18414Asn)
c.54675A>T (p.Lys18225Asn)
c.52017A>T (p.Lys17339Asn)
c.51936A>T (p.Lys17312Asn)
c.33699A>T (p.Lys11233Asn)
c.23553A>T (p.Lys7851Asn)
2g.178590921T>CCA430266223TTN,TTN-AS1c.53100A>G (p.Lys17700=)
c.34185A>G (p.Lys11395=)
c.33984A>G (p.Lys11328=)
c.33609A>G (p.Lys11203=)
c.60804A>G (p.Lys20268=)
c.55881A>G (p.Lys18627=)
n.597-6675T>C
n.3189-218T>C
c.59901A>G (p.Lys19967=)
c.33795A>G (p.Lys11265=)
c.33654A>G (p.Lys11218=)
c.59697A>G (p.Lys19899=)
c.55095A>G (p.Lys18365=)
c.55092A>G (p.Lys18364=)
c.52134A>G (p.Lys17378=)
c.33750A>G (p.Lys11250=)
c.55245A>G (p.Lys18415=)
c.55242A>G (p.Lys18414=)
c.54675A>G (p.Lys18225=)
c.52017A>G (p.Lys17339=)
c.51936A>G (p.Lys17312=)
c.33699A>G (p.Lys11233=)
c.23553A>G (p.Lys7851=)
2g.178590921T>GCA349479386TTN,TTN-AS1c.53100A>C (p.Lys17700Asn)
c.34185A>C (p.Lys11395Asn)
c.33984A>C (p.Lys11328Asn)
c.33609A>C (p.Lys11203Asn)
c.60804A>C (p.Lys20268Asn)
c.55881A>C (p.Lys18627Asn)
n.597-6675T>G
n.3189-218T>G
c.59901A>C (p.Lys19967Asn)
c.33795A>C (p.Lys11265Asn)
c.33654A>C (p.Lys11218Asn)
c.59697A>C (p.Lys19899Asn)
c.55095A>C (p.Lys18365Asn)
c.55092A>C (p.Lys18364Asn)
c.52134A>C (p.Lys17378Asn)
c.33750A>C (p.Lys11250Asn)
c.55245A>C (p.Lys18415Asn)
c.55242A>C (p.Lys18414Asn)
c.54675A>C (p.Lys18225Asn)
c.52017A>C (p.Lys17339Asn)
c.51936A>C (p.Lys17312Asn)
c.33699A>C (p.Lys11233Asn)
c.23553A>C (p.Lys7851Asn)
2g.178590922T>ACA349479390TTN,TTN-AS1c.53099A>T (p.Lys17700Ile)
c.34184A>T (p.Lys11395Ile)
c.33983A>T (p.Lys11328Ile)
c.33608A>T (p.Lys11203Ile)
c.60803A>T (p.Lys20268Ile)
c.55880A>T (p.Lys18627Ile)
n.597-6674T>A
n.3189-217T>A
c.59900A>T (p.Lys19967Ile)
c.33794A>T (p.Lys11265Ile)
c.33653A>T (p.Lys11218Ile)
c.59696A>T (p.Lys19899Ile)
c.55094A>T (p.Lys18365Ile)
c.55091A>T (p.Lys18364Ile)
c.52133A>T (p.Lys17378Ile)
c.33749A>T (p.Lys11250Ile)
c.55244A>T (p.Lys18415Ile)
c.55241A>T (p.Lys18414Ile)
c.54674A>T (p.Lys18225Ile)
c.52016A>T (p.Lys17339Ile)
c.51935A>T (p.Lys17312Ile)
c.33698A>T (p.Lys11233Ile)
c.23552A>T (p.Lys7851Ile)
2g.178590922T>CCA349479401TTN,TTN-AS1c.53099A>G (p.Lys17700Arg)
c.34184A>G (p.Lys11395Arg)
c.33983A>G (p.Lys11328Arg)
c.33608A>G (p.Lys11203Arg)
c.60803A>G (p.Lys20268Arg)
c.55880A>G (p.Lys18627Arg)
n.597-6674T>C
n.3189-217T>C
c.59900A>G (p.Lys19967Arg)
c.33794A>G (p.Lys11265Arg)
c.33653A>G (p.Lys11218Arg)
c.59696A>G (p.Lys19899Arg)
c.55094A>G (p.Lys18365Arg)
c.55091A>G (p.Lys18364Arg)
c.52133A>G (p.Lys17378Arg)
c.33749A>G (p.Lys11250Arg)
c.55244A>G (p.Lys18415Arg)
c.55241A>G (p.Lys18414Arg)
c.54674A>G (p.Lys18225Arg)
c.52016A>G (p.Lys17339Arg)
c.51935A>G (p.Lys17312Arg)
c.33698A>G (p.Lys11233Arg)
c.23552A>G (p.Lys7851Arg)
2g.178590922T>GCA349479404TTN,TTN-AS1c.53099A>C (p.Lys17700Thr)
c.34184A>C (p.Lys11395Thr)
c.33983A>C (p.Lys11328Thr)
c.33608A>C (p.Lys11203Thr)
c.60803A>C (p.Lys20268Thr)
c.55880A>C (p.Lys18627Thr)
n.597-6674T>G
n.3189-217T>G
c.59900A>C (p.Lys19967Thr)
c.33794A>C (p.Lys11265Thr)
c.33653A>C (p.Lys11218Thr)
c.59696A>C (p.Lys19899Thr)
c.55094A>C (p.Lys18365Thr)
c.55091A>C (p.Lys18364Thr)
c.52133A>C (p.Lys17378Thr)
c.33749A>C (p.Lys11250Thr)
c.55244A>C (p.Lys18415Thr)
c.55241A>C (p.Lys18414Thr)
c.54674A>C (p.Lys18225Thr)
c.52016A>C (p.Lys17339Thr)
c.51935A>C (p.Lys17312Thr)
c.33698A>C (p.Lys11233Thr)
c.23552A>C (p.Lys7851Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.178590923T>ACA349479409TTN,TTN-AS1c.53098A>T (p.Lys17700Ter)
c.34183A>T (p.Lys11395Ter)
c.33982A>T (p.Lys11328Ter)
c.33607A>T (p.Lys11203Ter)
c.60802A>T (p.Lys20268Ter)
c.55879A>T (p.Lys18627Ter)
n.597-6673T>A
n.3189-216T>A
c.59899A>T (p.Lys19967Ter)
c.33793A>T (p.Lys11265Ter)
c.33652A>T (p.Lys11218Ter)
c.59695A>T (p.Lys19899Ter)
c.55093A>T (p.Lys18365Ter)
c.55090A>T (p.Lys18364Ter)
c.52132A>T (p.Lys17378Ter)
c.33748A>T (p.Lys11250Ter)
c.55243A>T (p.Lys18415Ter)
c.55240A>T (p.Lys18414Ter)
c.54673A>T (p.Lys18225Ter)
c.52015A>T (p.Lys17339Ter)
c.51934A>T (p.Lys17312Ter)
c.33697A>T (p.Lys11233Ter)
c.23551A>T (p.Lys7851Ter)

Number of alleles fetched