Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178566255C>ACA349593174TTN,TTN-AS1c.72173G>T (p.Trp24058Leu)
c.53258G>T (p.Trp17753Leu)
c.53057G>T (p.Trp17686Leu)
c.52682G>T (p.Trp17561Leu)
c.79877G>T (p.Trp26626Leu)
c.74954G>T (p.Trp24985Leu)
n.447-5045C>A
n.2044-16317C>A
c.78974G>T (p.Trp26325Leu)
c.52868G>T (p.Trp17623Leu)
c.52727G>T (p.Trp17576Leu)
c.78770G>T (p.Trp26257Leu)
c.74168G>T (p.Trp24723Leu)
c.74165G>T (p.Trp24722Leu)
c.71207G>T (p.Trp23736Leu)
c.52823G>T (p.Trp17608Leu)
c.74318G>T (p.Trp24773Leu)
c.74315G>T (p.Trp24772Leu)
c.73748G>T (p.Trp24583Leu)
c.71090G>T (p.Trp23697Leu)
c.71009G>T (p.Trp23670Leu)
c.52772G>T (p.Trp17591Leu)
c.42626G>T (p.Trp14209Leu)
2g.178566255C>GCA349593189TTN,TTN-AS1c.72173G>C (p.Trp24058Ser)
c.53258G>C (p.Trp17753Ser)
c.53057G>C (p.Trp17686Ser)
c.52682G>C (p.Trp17561Ser)
c.79877G>C (p.Trp26626Ser)
c.74954G>C (p.Trp24985Ser)
n.447-5045C>G
n.2044-16317C>G
c.78974G>C (p.Trp26325Ser)
c.52868G>C (p.Trp17623Ser)
c.52727G>C (p.Trp17576Ser)
c.78770G>C (p.Trp26257Ser)
c.74168G>C (p.Trp24723Ser)
c.74165G>C (p.Trp24722Ser)
c.71207G>C (p.Trp23736Ser)
c.52823G>C (p.Trp17608Ser)
c.74318G>C (p.Trp24773Ser)
c.74315G>C (p.Trp24772Ser)
c.73748G>C (p.Trp24583Ser)
c.71090G>C (p.Trp23697Ser)
c.71009G>C (p.Trp23670Ser)
c.52772G>C (p.Trp17591Ser)
c.42626G>C (p.Trp14209Ser)
2g.178566255C>TCA349593185TTN,TTN-AS1c.72173G>A (p.Trp24058Ter)
c.53258G>A (p.Trp17753Ter)
c.53057G>A (p.Trp17686Ter)
c.52682G>A (p.Trp17561Ter)
c.79877G>A (p.Trp26626Ter)
c.74954G>A (p.Trp24985Ter)
n.447-5045C>T
n.2044-16317C>T
c.78974G>A (p.Trp26325Ter)
c.52868G>A (p.Trp17623Ter)
c.52727G>A (p.Trp17576Ter)
c.78770G>A (p.Trp26257Ter)
c.74168G>A (p.Trp24723Ter)
c.74165G>A (p.Trp24722Ter)
c.71207G>A (p.Trp23736Ter)
c.52823G>A (p.Trp17608Ter)
c.74318G>A (p.Trp24773Ter)
c.74315G>A (p.Trp24772Ter)
c.73748G>A (p.Trp24583Ter)
c.71090G>A (p.Trp23697Ter)
c.71009G>A (p.Trp23670Ter)
c.52772G>A (p.Trp17591Ter)
c.42626G>A (p.Trp14209Ter)
 COSMIC COSMIC COSMIC COSMIC
2g.178566256A>CCA349593190TTN,TTN-AS1c.72172T>G (p.Trp24058Gly)
c.53257T>G (p.Trp17753Gly)
c.53056T>G (p.Trp17686Gly)
c.52681T>G (p.Trp17561Gly)
c.79876T>G (p.Trp26626Gly)
c.74953T>G (p.Trp24985Gly)
n.447-5044A>C
n.2044-16316A>C
c.78973T>G (p.Trp26325Gly)
c.52867T>G (p.Trp17623Gly)
c.52726T>G (p.Trp17576Gly)
c.78769T>G (p.Trp26257Gly)
c.74167T>G (p.Trp24723Gly)
c.74164T>G (p.Trp24722Gly)
c.71206T>G (p.Trp23736Gly)
c.52822T>G (p.Trp17608Gly)
c.74317T>G (p.Trp24773Gly)
c.74314T>G (p.Trp24772Gly)
c.73747T>G (p.Trp24583Gly)
c.71089T>G (p.Trp23697Gly)
c.71008T>G (p.Trp23670Gly)
c.52771T>G (p.Trp17591Gly)
c.42625T>G (p.Trp14209Gly)
2g.178566256A>GCA349593191TTN,TTN-AS1c.72172T>C (p.Trp24058Arg)
c.53257T>C (p.Trp17753Arg)
c.53056T>C (p.Trp17686Arg)
c.52681T>C (p.Trp17561Arg)
c.79876T>C (p.Trp26626Arg)
c.74953T>C (p.Trp24985Arg)
n.447-5044A>G
n.2044-16316A>G
c.78973T>C (p.Trp26325Arg)
c.52867T>C (p.Trp17623Arg)
c.52726T>C (p.Trp17576Arg)
c.78769T>C (p.Trp26257Arg)
c.74167T>C (p.Trp24723Arg)
c.74164T>C (p.Trp24722Arg)
c.71206T>C (p.Trp23736Arg)
c.52822T>C (p.Trp17608Arg)
c.74317T>C (p.Trp24773Arg)
c.74314T>C (p.Trp24772Arg)
c.73747T>C (p.Trp24583Arg)
c.71089T>C (p.Trp23697Arg)
c.71008T>C (p.Trp23670Arg)
c.52771T>C (p.Trp17591Arg)
c.42625T>C (p.Trp14209Arg)
 gnomAD v4
2g.178566256A>TCA349593194TTN,TTN-AS1c.72172T>A (p.Trp24058Arg)
c.53257T>A (p.Trp17753Arg)
c.53056T>A (p.Trp17686Arg)
c.52681T>A (p.Trp17561Arg)
c.79876T>A (p.Trp26626Arg)
c.74953T>A (p.Trp24985Arg)
n.447-5044A>T
n.2044-16316A>T
c.78973T>A (p.Trp26325Arg)
c.52867T>A (p.Trp17623Arg)
c.52726T>A (p.Trp17576Arg)
c.78769T>A (p.Trp26257Arg)
c.74167T>A (p.Trp24723Arg)
c.74164T>A (p.Trp24722Arg)
c.71206T>A (p.Trp23736Arg)
c.52822T>A (p.Trp17608Arg)
c.74317T>A (p.Trp24773Arg)
c.74314T>A (p.Trp24772Arg)
c.73747T>A (p.Trp24583Arg)
c.71089T>A (p.Trp23697Arg)
c.71008T>A (p.Trp23670Arg)
c.52771T>A (p.Trp17591Arg)
c.42625T>A (p.Trp14209Arg)
2g.178566257A>CCA430252450TTN,TTN-AS1c.72171T>G (p.Thr24057=)
c.53256T>G (p.Thr17752=)
c.53055T>G (p.Thr17685=)
c.52680T>G (p.Thr17560=)
c.79875T>G (p.Thr26625=)
c.74952T>G (p.Thr24984=)
n.447-5043A>C
n.2044-16315A>C
c.78972T>G (p.Thr26324=)
c.52866T>G (p.Thr17622=)
c.52725T>G (p.Thr17575=)
c.78768T>G (p.Thr26256=)
c.74166T>G (p.Thr24722=)
c.74163T>G (p.Thr24721=)
c.71205T>G (p.Thr23735=)
c.52821T>G (p.Thr17607=)
c.74316T>G (p.Thr24772=)
c.74313T>G (p.Thr24771=)
c.73746T>G (p.Thr24582=)
c.71088T>G (p.Thr23696=)
c.71007T>G (p.Thr23669=)
c.52770T>G (p.Thr17590=)
c.42624T>G (p.Thr14208=)
2g.178566257A>GCA430252451TTN,TTN-AS1c.72171T>C (p.Thr24057=)
c.53256T>C (p.Thr17752=)
c.53055T>C (p.Thr17685=)
c.52680T>C (p.Thr17560=)
c.79875T>C (p.Thr26625=)
c.74952T>C (p.Thr24984=)
n.447-5043A>G
n.2044-16315A>G
c.78972T>C (p.Thr26324=)
c.52866T>C (p.Thr17622=)
c.52725T>C (p.Thr17575=)
c.78768T>C (p.Thr26256=)
c.74166T>C (p.Thr24722=)
c.74163T>C (p.Thr24721=)
c.71205T>C (p.Thr23735=)
c.52821T>C (p.Thr17607=)
c.74316T>C (p.Thr24772=)
c.74313T>C (p.Thr24771=)
c.73746T>C (p.Thr24582=)
c.71088T>C (p.Thr23696=)
c.71007T>C (p.Thr23669=)
c.52770T>C (p.Thr17590=)
c.42624T>C (p.Thr14208=)
2g.178566257A>TCA430252452TTN,TTN-AS1c.72171T>A (p.Thr24057=)
c.53256T>A (p.Thr17752=)
c.53055T>A (p.Thr17685=)
c.52680T>A (p.Thr17560=)
c.79875T>A (p.Thr26625=)
c.74952T>A (p.Thr24984=)
n.447-5043A>T
n.2044-16315A>T
c.78972T>A (p.Thr26324=)
c.52866T>A (p.Thr17622=)
c.52725T>A (p.Thr17575=)
c.78768T>A (p.Thr26256=)
c.74166T>A (p.Thr24722=)
c.74163T>A (p.Thr24721=)
c.71205T>A (p.Thr23735=)
c.52821T>A (p.Thr17607=)
c.74316T>A (p.Thr24772=)
c.74313T>A (p.Thr24771=)
c.73746T>A (p.Thr24582=)
c.71088T>A (p.Thr23696=)
c.71007T>A (p.Thr23669=)
c.52770T>A (p.Thr17590=)
c.42624T>A (p.Thr14208=)
2g.178566257_178566258insCGCCTCA2753333580TTN,TTN-AS1c.72170_72171insAGGCG (p.Trp24058GlyfsTer20)
c.53255_53256insAGGCG (p.Trp17753GlyfsTer20)
c.53054_53055insAGGCG (p.Trp17686GlyfsTer20)
c.52679_52680insAGGCG (p.Trp17561GlyfsTer20)
c.79874_79875insAGGCG (p.Trp26626GlyfsTer20)
c.74951_74952insAGGCG (p.Trp24985GlyfsTer20)
n.447-5043_447-5042insCGCCT
n.2044-16315_2044-16314insCGCCT
c.78971_78972insAGGCG (p.Trp26325GlyfsTer20)
c.52865_52866insAGGCG (p.Trp17623GlyfsTer20)
c.52724_52725insAGGCG (p.Trp17576GlyfsTer20)
c.78767_78768insAGGCG (p.Trp26257GlyfsTer20)
c.74165_74166insAGGCG (p.Trp24723GlyfsTer20)
c.74162_74163insAGGCG (p.Trp24722GlyfsTer20)
c.71204_71205insAGGCG (p.Trp23736GlyfsTer20)
c.52820_52821insAGGCG (p.Trp17608GlyfsTer20)
c.74315_74316insAGGCG (p.Trp24773GlyfsTer20)
c.74312_74313insAGGCG (p.Trp24772GlyfsTer20)
c.73745_73746insAGGCG (p.Trp24583GlyfsTer20)
c.71087_71088insAGGCG (p.Trp23697GlyfsTer20)
c.71006_71007insAGGCG (p.Trp23670GlyfsTer20)
c.52769_52770insAGGCG (p.Trp17591GlyfsTer20)
c.42623_42624insAGGCG (p.Trp14209GlyfsTer20)
2g.178566258G>ACA349593196TTN,TTN-AS1c.72170C>T (p.Thr24057Ile)
c.53255C>T (p.Thr17752Ile)
c.53054C>T (p.Thr17685Ile)
c.52679C>T (p.Thr17560Ile)
c.79874C>T (p.Thr26625Ile)
c.74951C>T (p.Thr24984Ile)
n.447-5042G>A
n.2044-16314G>A
c.78971C>T (p.Thr26324Ile)
c.52865C>T (p.Thr17622Ile)
c.52724C>T (p.Thr17575Ile)
c.78767C>T (p.Thr26256Ile)
c.74165C>T (p.Thr24722Ile)
c.74162C>T (p.Thr24721Ile)
c.71204C>T (p.Thr23735Ile)
c.52820C>T (p.Thr17607Ile)
c.74315C>T (p.Thr24772Ile)
c.74312C>T (p.Thr24771Ile)
c.73745C>T (p.Thr24582Ile)
c.71087C>T (p.Thr23696Ile)
c.71006C>T (p.Thr23669Ile)
c.52769C>T (p.Thr17590Ile)
c.42623C>T (p.Thr14208Ile)
 dbSNP gnomAD v4
2g.178566258G>CCA349593199TTN,TTN-AS1c.72170C>G (p.Thr24057Ser)
c.53255C>G (p.Thr17752Ser)
c.53054C>G (p.Thr17685Ser)
c.52679C>G (p.Thr17560Ser)
c.79874C>G (p.Thr26625Ser)
c.74951C>G (p.Thr24984Ser)
n.447-5042G>C
n.2044-16314G>C
c.78971C>G (p.Thr26324Ser)
c.52865C>G (p.Thr17622Ser)
c.52724C>G (p.Thr17575Ser)
c.78767C>G (p.Thr26256Ser)
c.74165C>G (p.Thr24722Ser)
c.74162C>G (p.Thr24721Ser)
c.71204C>G (p.Thr23735Ser)
c.52820C>G (p.Thr17607Ser)
c.74315C>G (p.Thr24772Ser)
c.74312C>G (p.Thr24771Ser)
c.73745C>G (p.Thr24582Ser)
c.71087C>G (p.Thr23696Ser)
c.71006C>G (p.Thr23669Ser)
c.52769C>G (p.Thr17590Ser)
c.42623C>G (p.Thr14208Ser)
2g.178566258G=CA1310529438TTN,TTN-AS1c.72170C= (p.Thr24057=)
c.53255C= (p.Thr17752=)
c.53054C= (p.Thr17685=)
c.52679C= (p.Thr17560=)
c.79874C= (p.Thr26625=)
c.74951C= (p.Thr24984=)
n.447-5042G=
n.2044-16314G=
c.78971C= (p.Thr26324=)
c.52865C= (p.Thr17622=)
c.52724C= (p.Thr17575=)
c.78767C= (p.Thr26256=)
c.74165C= (p.Thr24722=)
c.74162C= (p.Thr24721=)
c.71204C= (p.Thr23735=)
c.52820C= (p.Thr17607=)
c.74315C= (p.Thr24772=)
c.74312C= (p.Thr24771=)
c.73745C= (p.Thr24582=)
c.71087C= (p.Thr23696=)
c.71006C= (p.Thr23669=)
c.52769C= (p.Thr17590=)
c.42623C= (p.Thr14208=)
2g.178566258G>TCA349593201TTN,TTN-AS1c.72170C>A (p.Thr24057Asn)
c.53255C>A (p.Thr17752Asn)
c.53054C>A (p.Thr17685Asn)
c.52679C>A (p.Thr17560Asn)
c.79874C>A (p.Thr26625Asn)
c.74951C>A (p.Thr24984Asn)
n.447-5042G>T
n.2044-16314G>T
c.78971C>A (p.Thr26324Asn)
c.52865C>A (p.Thr17622Asn)
c.52724C>A (p.Thr17575Asn)
c.78767C>A (p.Thr26256Asn)
c.74165C>A (p.Thr24722Asn)
c.74162C>A (p.Thr24721Asn)
c.71204C>A (p.Thr23735Asn)
c.52820C>A (p.Thr17607Asn)
c.74315C>A (p.Thr24772Asn)
c.74312C>A (p.Thr24771Asn)
c.73745C>A (p.Thr24582Asn)
c.71087C>A (p.Thr23696Asn)
c.71006C>A (p.Thr23669Asn)
c.52769C>A (p.Thr17590Asn)
c.42623C>A (p.Thr14208Asn)
2g.178566259T>ACA349593205TTN,TTN-AS1c.72169A>T (p.Thr24057Ser)
c.53254A>T (p.Thr17752Ser)
c.53053A>T (p.Thr17685Ser)
c.52678A>T (p.Thr17560Ser)
c.79873A>T (p.Thr26625Ser)
c.74950A>T (p.Thr24984Ser)
n.447-5041T>A
n.2044-16313T>A
c.78970A>T (p.Thr26324Ser)
c.52864A>T (p.Thr17622Ser)
c.52723A>T (p.Thr17575Ser)
c.78766A>T (p.Thr26256Ser)
c.74164A>T (p.Thr24722Ser)
c.74161A>T (p.Thr24721Ser)
c.71203A>T (p.Thr23735Ser)
c.52819A>T (p.Thr17607Ser)
c.74314A>T (p.Thr24772Ser)
c.74311A>T (p.Thr24771Ser)
c.73744A>T (p.Thr24582Ser)
c.71086A>T (p.Thr23696Ser)
c.71005A>T (p.Thr23669Ser)
c.52768A>T (p.Thr17590Ser)
c.42622A>T (p.Thr14208Ser)
2g.178566259T>CCA349593209TTN,TTN-AS1c.72169A>G (p.Thr24057Ala)
c.53254A>G (p.Thr17752Ala)
c.53053A>G (p.Thr17685Ala)
c.52678A>G (p.Thr17560Ala)
c.79873A>G (p.Thr26625Ala)
c.74950A>G (p.Thr24984Ala)
n.447-5041T>C
n.2044-16313T>C
c.78970A>G (p.Thr26324Ala)
c.52864A>G (p.Thr17622Ala)
c.52723A>G (p.Thr17575Ala)
c.78766A>G (p.Thr26256Ala)
c.74164A>G (p.Thr24722Ala)
c.74161A>G (p.Thr24721Ala)
c.71203A>G (p.Thr23735Ala)
c.52819A>G (p.Thr17607Ala)
c.74314A>G (p.Thr24772Ala)
c.74311A>G (p.Thr24771Ala)
c.73744A>G (p.Thr24582Ala)
c.71086A>G (p.Thr23696Ala)
c.71005A>G (p.Thr23669Ala)
c.52768A>G (p.Thr17590Ala)
c.42622A>G (p.Thr14208Ala)
2g.178566259T>GCA349593210TTN,TTN-AS1c.72169A>C (p.Thr24057Pro)
c.53254A>C (p.Thr17752Pro)
c.53053A>C (p.Thr17685Pro)
c.52678A>C (p.Thr17560Pro)
c.79873A>C (p.Thr26625Pro)
c.74950A>C (p.Thr24984Pro)
n.447-5041T>G
n.2044-16313T>G
c.78970A>C (p.Thr26324Pro)
c.52864A>C (p.Thr17622Pro)
c.52723A>C (p.Thr17575Pro)
c.78766A>C (p.Thr26256Pro)
c.74164A>C (p.Thr24722Pro)
c.74161A>C (p.Thr24721Pro)
c.71203A>C (p.Thr23735Pro)
c.52819A>C (p.Thr17607Pro)
c.74314A>C (p.Thr24772Pro)
c.74311A>C (p.Thr24771Pro)
c.73744A>C (p.Thr24582Pro)
c.71086A>C (p.Thr23696Pro)
c.71005A>C (p.Thr23669Pro)
c.52768A>C (p.Thr17590Pro)
c.42622A>C (p.Thr14208Pro)
 gnomAD v4
2g.178566260G>ACA430252455TTN,TTN-AS1c.72168C>T (p.Ile24056=)
c.53253C>T (p.Ile17751=)
c.53052C>T (p.Ile17684=)
c.52677C>T (p.Ile17559=)
c.79872C>T (p.Ile26624=)
c.74949C>T (p.Ile24983=)
n.447-5040G>A
n.2044-16312G>A
c.78969C>T (p.Ile26323=)
c.52863C>T (p.Ile17621=)
c.52722C>T (p.Ile17574=)
c.78765C>T (p.Ile26255=)
c.74163C>T (p.Ile24721=)
c.74160C>T (p.Ile24720=)
c.71202C>T (p.Ile23734=)
c.52818C>T (p.Ile17606=)
c.74313C>T (p.Ile24771=)
c.74310C>T (p.Ile24770=)
c.73743C>T (p.Ile24581=)
c.71085C>T (p.Ile23695=)
c.71004C>T (p.Ile23668=)
c.52767C>T (p.Ile17589=)
c.42621C>T (p.Ile14207=)
 dbSNP
2g.178566260G>CCA349593212TTN,TTN-AS1c.72168C>G (p.Ile24056Met)
c.53253C>G (p.Ile17751Met)
c.53052C>G (p.Ile17684Met)
c.52677C>G (p.Ile17559Met)
c.79872C>G (p.Ile26624Met)
c.74949C>G (p.Ile24983Met)
n.447-5040G>C
n.2044-16312G>C
c.78969C>G (p.Ile26323Met)
c.52863C>G (p.Ile17621Met)
c.52722C>G (p.Ile17574Met)
c.78765C>G (p.Ile26255Met)
c.74163C>G (p.Ile24721Met)
c.74160C>G (p.Ile24720Met)
c.71202C>G (p.Ile23734Met)
c.52818C>G (p.Ile17606Met)
c.74313C>G (p.Ile24771Met)
c.74310C>G (p.Ile24770Met)
c.73743C>G (p.Ile24581Met)
c.71085C>G (p.Ile23695Met)
c.71004C>G (p.Ile23668Met)
c.52767C>G (p.Ile17589Met)
c.42621C>G (p.Ile14207Met)
2g.178566260G=CA1310529439TTN,TTN-AS1c.72168C= (p.Ile24056=)
c.53253C= (p.Ile17751=)
c.53052C= (p.Ile17684=)
c.52677C= (p.Ile17559=)
c.79872C= (p.Ile26624=)
c.74949C= (p.Ile24983=)
n.447-5040G=
n.2044-16312G=
c.78969C= (p.Ile26323=)
c.52863C= (p.Ile17621=)
c.52722C= (p.Ile17574=)
c.78765C= (p.Ile26255=)
c.74163C= (p.Ile24721=)
c.74160C= (p.Ile24720=)
c.71202C= (p.Ile23734=)
c.52818C= (p.Ile17606=)
c.74313C= (p.Ile24771=)
c.74310C= (p.Ile24770=)
c.73743C= (p.Ile24581=)
c.71085C= (p.Ile23695=)
c.71004C= (p.Ile23668=)
c.52767C= (p.Ile17589=)
c.42621C= (p.Ile14207=)
2g.178566260G>TCA430252454TTN,TTN-AS1c.72168C>A (p.Ile24056=)
c.53253C>A (p.Ile17751=)
c.53052C>A (p.Ile17684=)
c.52677C>A (p.Ile17559=)
c.79872C>A (p.Ile26624=)
c.74949C>A (p.Ile24983=)
n.447-5040G>T
n.2044-16312G>T
c.78969C>A (p.Ile26323=)
c.52863C>A (p.Ile17621=)
c.52722C>A (p.Ile17574=)
c.78765C>A (p.Ile26255=)
c.74163C>A (p.Ile24721=)
c.74160C>A (p.Ile24720=)
c.71202C>A (p.Ile23734=)
c.52818C>A (p.Ile17606=)
c.74313C>A (p.Ile24771=)
c.74310C>A (p.Ile24770=)
c.73743C>A (p.Ile24581=)
c.71085C>A (p.Ile23695=)
c.71004C>A (p.Ile23668=)
c.52767C>A (p.Ile17589=)
c.42621C>A (p.Ile14207=)
2g.178566261A=CA1310529440TTN,TTN-AS1c.72167T= (p.Ile24056=)
c.53252T= (p.Ile17751=)
c.53051T= (p.Ile17684=)
c.52676T= (p.Ile17559=)
c.79871T= (p.Ile26624=)
c.74948T= (p.Ile24983=)
n.447-5039A=
n.2044-16311A=
c.78968T= (p.Ile26323=)
c.52862T= (p.Ile17621=)
c.52721T= (p.Ile17574=)
c.78764T= (p.Ile26255=)
c.74162T= (p.Ile24721=)
c.74159T= (p.Ile24720=)
c.71201T= (p.Ile23734=)
c.52817T= (p.Ile17606=)
c.74312T= (p.Ile24771=)
c.74309T= (p.Ile24770=)
c.73742T= (p.Ile24581=)
c.71084T= (p.Ile23695=)
c.71003T= (p.Ile23668=)
c.52766T= (p.Ile17589=)
c.42620T= (p.Ile14207=)
2g.178566261A>CCA349593225TTN,TTN-AS1c.72167T>G (p.Ile24056Ser)
c.53252T>G (p.Ile17751Ser)
c.53051T>G (p.Ile17684Ser)
c.52676T>G (p.Ile17559Ser)
c.79871T>G (p.Ile26624Ser)
c.74948T>G (p.Ile24983Ser)
n.447-5039A>C
n.2044-16311A>C
c.78968T>G (p.Ile26323Ser)
c.52862T>G (p.Ile17621Ser)
c.52721T>G (p.Ile17574Ser)
c.78764T>G (p.Ile26255Ser)
c.74162T>G (p.Ile24721Ser)
c.74159T>G (p.Ile24720Ser)
c.71201T>G (p.Ile23734Ser)
c.52817T>G (p.Ile17606Ser)
c.74312T>G (p.Ile24771Ser)
c.74309T>G (p.Ile24770Ser)
c.73742T>G (p.Ile24581Ser)
c.71084T>G (p.Ile23695Ser)
c.71003T>G (p.Ile23668Ser)
c.52766T>G (p.Ile17589Ser)
c.42620T>G (p.Ile14207Ser)
 gnomAD v4
2g.178566261A>GCA349593226TTN,TTN-AS1c.72167T>C (p.Ile24056Thr)
c.53252T>C (p.Ile17751Thr)
c.53051T>C (p.Ile17684Thr)
c.52676T>C (p.Ile17559Thr)
c.79871T>C (p.Ile26624Thr)
c.74948T>C (p.Ile24983Thr)
n.447-5039A>G
n.2044-16311A>G
c.78968T>C (p.Ile26323Thr)
c.52862T>C (p.Ile17621Thr)
c.52721T>C (p.Ile17574Thr)
c.78764T>C (p.Ile26255Thr)
c.74162T>C (p.Ile24721Thr)
c.74159T>C (p.Ile24720Thr)
c.71201T>C (p.Ile23734Thr)
c.52817T>C (p.Ile17606Thr)
c.74312T>C (p.Ile24771Thr)
c.74309T>C (p.Ile24770Thr)
c.73742T>C (p.Ile24581Thr)
c.71084T>C (p.Ile23695Thr)
c.71003T>C (p.Ile23668Thr)
c.52766T>C (p.Ile17589Thr)
c.42620T>C (p.Ile14207Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178566261A>TCA60989655TTN,TTN-AS1c.72167T>A (p.Ile24056Asn)
c.53252T>A (p.Ile17751Asn)
c.53051T>A (p.Ile17684Asn)
c.52676T>A (p.Ile17559Asn)
c.79871T>A (p.Ile26624Asn)
c.74948T>A (p.Ile24983Asn)
n.447-5039A>T
n.2044-16311A>T
c.78968T>A (p.Ile26323Asn)
c.52862T>A (p.Ile17621Asn)
c.52721T>A (p.Ile17574Asn)
c.78764T>A (p.Ile26255Asn)
c.74162T>A (p.Ile24721Asn)
c.74159T>A (p.Ile24720Asn)
c.71201T>A (p.Ile23734Asn)
c.52817T>A (p.Ile17606Asn)
c.74312T>A (p.Ile24771Asn)
c.74309T>A (p.Ile24770Asn)
c.73742T>A (p.Ile24581Asn)
c.71084T>A (p.Ile23695Asn)
c.71003T>A (p.Ile23668Asn)
c.52766T>A (p.Ile17589Asn)
c.42620T>A (p.Ile14207Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178566262T>ACA349593236TTN,TTN-AS1c.72166A>T (p.Ile24056Phe)
c.53251A>T (p.Ile17751Phe)
c.53050A>T (p.Ile17684Phe)
c.52675A>T (p.Ile17559Phe)
c.79870A>T (p.Ile26624Phe)
c.74947A>T (p.Ile24983Phe)
n.447-5038T>A
n.2044-16310T>A
c.78967A>T (p.Ile26323Phe)
c.52861A>T (p.Ile17621Phe)
c.52720A>T (p.Ile17574Phe)
c.78763A>T (p.Ile26255Phe)
c.74161A>T (p.Ile24721Phe)
c.74158A>T (p.Ile24720Phe)
c.71200A>T (p.Ile23734Phe)
c.52816A>T (p.Ile17606Phe)
c.74311A>T (p.Ile24771Phe)
c.74308A>T (p.Ile24770Phe)
c.73741A>T (p.Ile24581Phe)
c.71083A>T (p.Ile23695Phe)
c.71002A>T (p.Ile23668Phe)
c.52765A>T (p.Ile17589Phe)
c.42619A>T (p.Ile14207Phe)
2g.178566262T>CCA349593230TTN,TTN-AS1c.72166A>G (p.Ile24056Val)
c.53251A>G (p.Ile17751Val)
c.53050A>G (p.Ile17684Val)
c.52675A>G (p.Ile17559Val)
c.79870A>G (p.Ile26624Val)
c.74947A>G (p.Ile24983Val)
n.447-5038T>C
n.2044-16310T>C
c.78967A>G (p.Ile26323Val)
c.52861A>G (p.Ile17621Val)
c.52720A>G (p.Ile17574Val)
c.78763A>G (p.Ile26255Val)
c.74161A>G (p.Ile24721Val)
c.74158A>G (p.Ile24720Val)
c.71200A>G (p.Ile23734Val)
c.52816A>G (p.Ile17606Val)
c.74311A>G (p.Ile24771Val)
c.74308A>G (p.Ile24770Val)
c.73741A>G (p.Ile24581Val)
c.71083A>G (p.Ile23695Val)
c.71002A>G (p.Ile23668Val)
c.52765A>G (p.Ile17589Val)
c.42619A>G (p.Ile14207Val)
2g.178566262T>GCA349593233TTN,TTN-AS1c.72166A>C (p.Ile24056Leu)
c.53251A>C (p.Ile17751Leu)
c.53050A>C (p.Ile17684Leu)
c.52675A>C (p.Ile17559Leu)
c.79870A>C (p.Ile26624Leu)
c.74947A>C (p.Ile24983Leu)
n.447-5038T>G
n.2044-16310T>G
c.78967A>C (p.Ile26323Leu)
c.52861A>C (p.Ile17621Leu)
c.52720A>C (p.Ile17574Leu)
c.78763A>C (p.Ile26255Leu)
c.74161A>C (p.Ile24721Leu)
c.74158A>C (p.Ile24720Leu)
c.71200A>C (p.Ile23734Leu)
c.52816A>C (p.Ile17606Leu)
c.74311A>C (p.Ile24771Leu)
c.74308A>C (p.Ile24770Leu)
c.73741A>C (p.Ile24581Leu)
c.71083A>C (p.Ile23695Leu)
c.71002A>C (p.Ile23668Leu)
c.52765A>C (p.Ile17589Leu)
c.42619A>C (p.Ile14207Leu)
2g.178566263C>ACA349593240TTN,TTN-AS1c.72165G>T (p.Glu24055Asp)
c.53250G>T (p.Glu17750Asp)
c.53049G>T (p.Glu17683Asp)
c.52674G>T (p.Glu17558Asp)
c.79869G>T (p.Glu26623Asp)
c.74946G>T (p.Glu24982Asp)
n.447-5037C>A
n.2044-16309C>A
c.78966G>T (p.Glu26322Asp)
c.52860G>T (p.Glu17620Asp)
c.52719G>T (p.Glu17573Asp)
c.78762G>T (p.Glu26254Asp)
c.74160G>T (p.Glu24720Asp)
c.74157G>T (p.Glu24719Asp)
c.71199G>T (p.Glu23733Asp)
c.52815G>T (p.Glu17605Asp)
c.74310G>T (p.Glu24770Asp)
c.74307G>T (p.Glu24769Asp)
c.73740G>T (p.Glu24580Asp)
c.71082G>T (p.Glu23694Asp)
c.71001G>T (p.Glu23667Asp)
c.52764G>T (p.Glu17588Asp)
c.42618G>T (p.Glu14206Asp)
2g.178566263C=CA1310529441TTN,TTN-AS1c.72165G= (p.Glu24055=)
c.53250G= (p.Glu17750=)
c.53049G= (p.Glu17683=)
c.52674G= (p.Glu17558=)
c.79869G= (p.Glu26623=)
c.74946G= (p.Glu24982=)
n.447-5037C=
n.2044-16309C=
c.78966G= (p.Glu26322=)
c.52860G= (p.Glu17620=)
c.52719G= (p.Glu17573=)
c.78762G= (p.Glu26254=)
c.74160G= (p.Glu24720=)
c.74157G= (p.Glu24719=)
c.71199G= (p.Glu23733=)
c.52815G= (p.Glu17605=)
c.74310G= (p.Glu24770=)
c.74307G= (p.Glu24769=)
c.73740G= (p.Glu24580=)
c.71082G= (p.Glu23694=)
c.71001G= (p.Glu23667=)
c.52764G= (p.Glu17588=)
c.42618G= (p.Glu14206=)
2g.178566263C>GCA349593244TTN,TTN-AS1c.72165G>C (p.Glu24055Asp)
c.53250G>C (p.Glu17750Asp)
c.53049G>C (p.Glu17683Asp)
c.52674G>C (p.Glu17558Asp)
c.79869G>C (p.Glu26623Asp)
c.74946G>C (p.Glu24982Asp)
n.447-5037C>G
n.2044-16309C>G
c.78966G>C (p.Glu26322Asp)
c.52860G>C (p.Glu17620Asp)
c.52719G>C (p.Glu17573Asp)
c.78762G>C (p.Glu26254Asp)
c.74160G>C (p.Glu24720Asp)
c.74157G>C (p.Glu24719Asp)
c.71199G>C (p.Glu23733Asp)
c.52815G>C (p.Glu17605Asp)
c.74310G>C (p.Glu24770Asp)
c.74307G>C (p.Glu24769Asp)
c.73740G>C (p.Glu24580Asp)
c.71082G>C (p.Glu23694Asp)
c.71001G>C (p.Glu23667Asp)
c.52764G>C (p.Glu17588Asp)
c.42618G>C (p.Glu14206Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.178566263C>TCA1989423TTN,TTN-AS1c.72165G>A (p.Glu24055=)
c.53250G>A (p.Glu17750=)
c.53049G>A (p.Glu17683=)
c.52674G>A (p.Glu17558=)
c.79869G>A (p.Glu26623=)
c.74946G>A (p.Glu24982=)
n.447-5037C>T
n.2044-16309C>T
c.78966G>A (p.Glu26322=)
c.52860G>A (p.Glu17620=)
c.52719G>A (p.Glu17573=)
c.78762G>A (p.Glu26254=)
c.74160G>A (p.Glu24720=)
c.74157G>A (p.Glu24719=)
c.71199G>A (p.Glu23733=)
c.52815G>A (p.Glu17605=)
c.74310G>A (p.Glu24770=)
c.74307G>A (p.Glu24769=)
c.73740G>A (p.Glu24580=)
c.71082G>A (p.Glu23694=)
c.71001G>A (p.Glu23667=)
c.52764G>A (p.Glu17588=)
c.42618G>A (p.Glu14206=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178566264T>ACA349593256TTN,TTN-AS1c.72164A>T (p.Glu24055Val)
c.53249A>T (p.Glu17750Val)
c.53048A>T (p.Glu17683Val)
c.52673A>T (p.Glu17558Val)
c.79868A>T (p.Glu26623Val)
c.74945A>T (p.Glu24982Val)
n.447-5036T>A
n.2044-16308T>A
c.78965A>T (p.Glu26322Val)
c.52859A>T (p.Glu17620Val)
c.52718A>T (p.Glu17573Val)
c.78761A>T (p.Glu26254Val)
c.74159A>T (p.Glu24720Val)
c.74156A>T (p.Glu24719Val)
c.71198A>T (p.Glu23733Val)
c.52814A>T (p.Glu17605Val)
c.74309A>T (p.Glu24770Val)
c.74306A>T (p.Glu24769Val)
c.73739A>T (p.Glu24580Val)
c.71081A>T (p.Glu23694Val)
c.71000A>T (p.Glu23667Val)
c.52763A>T (p.Glu17588Val)
c.42617A>T (p.Glu14206Val)
2g.178566264T>CCA349593259TTN,TTN-AS1c.72164A>G (p.Glu24055Gly)
c.53249A>G (p.Glu17750Gly)
c.53048A>G (p.Glu17683Gly)
c.52673A>G (p.Glu17558Gly)
c.79868A>G (p.Glu26623Gly)
c.74945A>G (p.Glu24982Gly)
n.447-5036T>C
n.2044-16308T>C
c.78965A>G (p.Glu26322Gly)
c.52859A>G (p.Glu17620Gly)
c.52718A>G (p.Glu17573Gly)
c.78761A>G (p.Glu26254Gly)
c.74159A>G (p.Glu24720Gly)
c.74156A>G (p.Glu24719Gly)
c.71198A>G (p.Glu23733Gly)
c.52814A>G (p.Glu17605Gly)
c.74309A>G (p.Glu24770Gly)
c.74306A>G (p.Glu24769Gly)
c.73739A>G (p.Glu24580Gly)
c.71081A>G (p.Glu23694Gly)
c.71000A>G (p.Glu23667Gly)
c.52763A>G (p.Glu17588Gly)
c.42617A>G (p.Glu14206Gly)
 dbSNP
2g.178566264T>GCA349593263TTN,TTN-AS1c.72164A>C (p.Glu24055Ala)
c.53249A>C (p.Glu17750Ala)
c.53048A>C (p.Glu17683Ala)
c.52673A>C (p.Glu17558Ala)
c.79868A>C (p.Glu26623Ala)
c.74945A>C (p.Glu24982Ala)
n.447-5036T>G
n.2044-16308T>G
c.78965A>C (p.Glu26322Ala)
c.52859A>C (p.Glu17620Ala)
c.52718A>C (p.Glu17573Ala)
c.78761A>C (p.Glu26254Ala)
c.74159A>C (p.Glu24720Ala)
c.74156A>C (p.Glu24719Ala)
c.71198A>C (p.Glu23733Ala)
c.52814A>C (p.Glu17605Ala)
c.74309A>C (p.Glu24770Ala)
c.74306A>C (p.Glu24769Ala)
c.73739A>C (p.Glu24580Ala)
c.71081A>C (p.Glu23694Ala)
c.71000A>C (p.Glu23667Ala)
c.52763A>C (p.Glu17588Ala)
c.42617A>C (p.Glu14206Ala)
2g.178566265C>ACA349593267TTN,TTN-AS1c.72163G>T (p.Glu24055Ter)
c.53248G>T (p.Glu17750Ter)
c.53047G>T (p.Glu17683Ter)
c.52672G>T (p.Glu17558Ter)
c.79867G>T (p.Glu26623Ter)
c.74944G>T (p.Glu24982Ter)
n.447-5035C>A
n.2044-16307C>A
c.78964G>T (p.Glu26322Ter)
c.52858G>T (p.Glu17620Ter)
c.52717G>T (p.Glu17573Ter)
c.78760G>T (p.Glu26254Ter)
c.74158G>T (p.Glu24720Ter)
c.74155G>T (p.Glu24719Ter)
c.71197G>T (p.Glu23733Ter)
c.52813G>T (p.Glu17605Ter)
c.74308G>T (p.Glu24770Ter)
c.74305G>T (p.Glu24769Ter)
c.73738G>T (p.Glu24580Ter)
c.71080G>T (p.Glu23694Ter)
c.70999G>T (p.Glu23667Ter)
c.52762G>T (p.Glu17588Ter)
c.42616G>T (p.Glu14206Ter)
2g.178566265C=CA1310529442TTN,TTN-AS1c.72163G= (p.Glu24055=)
c.53248G= (p.Glu17750=)
c.53047G= (p.Glu17683=)
c.52672G= (p.Glu17558=)
c.79867G= (p.Glu26623=)
c.74944G= (p.Glu24982=)
n.447-5035C=
n.2044-16307C=
c.78964G= (p.Glu26322=)
c.52858G= (p.Glu17620=)
c.52717G= (p.Glu17573=)
c.78760G= (p.Glu26254=)
c.74158G= (p.Glu24720=)
c.74155G= (p.Glu24719=)
c.71197G= (p.Glu23733=)
c.52813G= (p.Glu17605=)
c.74308G= (p.Glu24770=)
c.74305G= (p.Glu24769=)
c.73738G= (p.Glu24580=)
c.71080G= (p.Glu23694=)
c.70999G= (p.Glu23667=)
c.52762G= (p.Glu17588=)
c.42616G= (p.Glu14206=)
2g.178566265C>GCA349593268TTN,TTN-AS1c.72163G>C (p.Glu24055Gln)
c.53248G>C (p.Glu17750Gln)
c.53047G>C (p.Glu17683Gln)
c.52672G>C (p.Glu17558Gln)
c.79867G>C (p.Glu26623Gln)
c.74944G>C (p.Glu24982Gln)
n.447-5035C>G
n.2044-16307C>G
c.78964G>C (p.Glu26322Gln)
c.52858G>C (p.Glu17620Gln)
c.52717G>C (p.Glu17573Gln)
c.78760G>C (p.Glu26254Gln)
c.74158G>C (p.Glu24720Gln)
c.74155G>C (p.Glu24719Gln)
c.71197G>C (p.Glu23733Gln)
c.52813G>C (p.Glu17605Gln)
c.74308G>C (p.Glu24770Gln)
c.74305G>C (p.Glu24769Gln)
c.73738G>C (p.Glu24580Gln)
c.71080G>C (p.Glu23694Gln)
c.70999G>C (p.Glu23667Gln)
c.52762G>C (p.Glu17588Gln)
c.42616G>C (p.Glu14206Gln)
2g.178566265C>TCA349593271TTN,TTN-AS1c.72163G>A (p.Glu24055Lys)
c.53248G>A (p.Glu17750Lys)
c.53047G>A (p.Glu17683Lys)
c.52672G>A (p.Glu17558Lys)
c.79867G>A (p.Glu26623Lys)
c.74944G>A (p.Glu24982Lys)
n.447-5035C>T
n.2044-16307C>T
c.78964G>A (p.Glu26322Lys)
c.52858G>A (p.Glu17620Lys)
c.52717G>A (p.Glu17573Lys)
c.78760G>A (p.Glu26254Lys)
c.74158G>A (p.Glu24720Lys)
c.74155G>A (p.Glu24719Lys)
c.71197G>A (p.Glu23733Lys)
c.52813G>A (p.Glu17605Lys)
c.74308G>A (p.Glu24770Lys)
c.74305G>A (p.Glu24769Lys)
c.73738G>A (p.Glu24580Lys)
c.71080G>A (p.Glu23694Lys)
c.70999G>A (p.Glu23667Lys)
c.52762G>A (p.Glu17588Lys)
c.42616G>A (p.Glu14206Lys)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
2g.178566266A>CCA430252457TTN,TTN-AS1c.72162T>G (p.Pro24054=)
c.53247T>G (p.Pro17749=)
c.53046T>G (p.Pro17682=)
c.52671T>G (p.Pro17557=)
c.79866T>G (p.Pro26622=)
c.74943T>G (p.Pro24981=)
n.447-5034A>C
n.2044-16306A>C
c.78963T>G (p.Pro26321=)
c.52857T>G (p.Pro17619=)
c.52716T>G (p.Pro17572=)
c.78759T>G (p.Pro26253=)
c.74157T>G (p.Pro24719=)
c.74154T>G (p.Pro24718=)
c.71196T>G (p.Pro23732=)
c.52812T>G (p.Pro17604=)
c.74307T>G (p.Pro24769=)
c.74304T>G (p.Pro24768=)
c.73737T>G (p.Pro24579=)
c.71079T>G (p.Pro23693=)
c.70998T>G (p.Pro23666=)
c.52761T>G (p.Pro17587=)
c.42615T>G (p.Pro14205=)
2g.178566266A>GCA430252459TTN,TTN-AS1c.72162T>C (p.Pro24054=)
c.53247T>C (p.Pro17749=)
c.53046T>C (p.Pro17682=)
c.52671T>C (p.Pro17557=)
c.79866T>C (p.Pro26622=)
c.74943T>C (p.Pro24981=)
n.447-5034A>G
n.2044-16306A>G
c.78963T>C (p.Pro26321=)
c.52857T>C (p.Pro17619=)
c.52716T>C (p.Pro17572=)
c.78759T>C (p.Pro26253=)
c.74157T>C (p.Pro24719=)
c.74154T>C (p.Pro24718=)
c.71196T>C (p.Pro23732=)
c.52812T>C (p.Pro17604=)
c.74307T>C (p.Pro24769=)
c.74304T>C (p.Pro24768=)
c.73737T>C (p.Pro24579=)
c.71079T>C (p.Pro23693=)
c.70998T>C (p.Pro23666=)
c.52761T>C (p.Pro17587=)
c.42615T>C (p.Pro14205=)
2g.178566266A>TCA430252458TTN,TTN-AS1c.72162T>A (p.Pro24054=)
c.53247T>A (p.Pro17749=)
c.53046T>A (p.Pro17682=)
c.52671T>A (p.Pro17557=)
c.79866T>A (p.Pro26622=)
c.74943T>A (p.Pro24981=)
n.447-5034A>T
n.2044-16306A>T
c.78963T>A (p.Pro26321=)
c.52857T>A (p.Pro17619=)
c.52716T>A (p.Pro17572=)
c.78759T>A (p.Pro26253=)
c.74157T>A (p.Pro24719=)
c.74154T>A (p.Pro24718=)
c.71196T>A (p.Pro23732=)
c.52812T>A (p.Pro17604=)
c.74307T>A (p.Pro24769=)
c.74304T>A (p.Pro24768=)
c.73737T>A (p.Pro24579=)
c.71079T>A (p.Pro23693=)
c.70998T>A (p.Pro23666=)
c.52761T>A (p.Pro17587=)
c.42615T>A (p.Pro14205=)
2g.178566266_178566270delCA2753333586TTN,TTN-AS1c.72158_72162del (p.Thr24053ArgfsTer10)
c.53243_53247del (p.Thr17748ArgfsTer10)
c.53042_53046del (p.Thr17681ArgfsTer10)
c.52667_52671del (p.Thr17556ArgfsTer10)
c.79862_79866del (p.Thr26621ArgfsTer10)
c.74939_74943del (p.Thr24980ArgfsTer10)
n.447-5034_447-5030del
n.2044-16306_2044-16302del
c.78959_78963del (p.Thr26320ArgfsTer10)
c.52853_52857del (p.Thr17618ArgfsTer10)
c.52712_52716del (p.Thr17571ArgfsTer10)
c.78755_78759del (p.Thr26252ArgfsTer10)
c.74153_74157del (p.Thr24718ArgfsTer10)
c.74150_74154del (p.Thr24717ArgfsTer10)
c.71192_71196del (p.Thr23731ArgfsTer10)
c.52808_52812del (p.Thr17603ArgfsTer10)
c.74303_74307del (p.Thr24768ArgfsTer10)
c.74300_74304del (p.Thr24767ArgfsTer10)
c.73733_73737del (p.Thr24578ArgfsTer10)
c.71075_71079del (p.Thr23692ArgfsTer10)
c.70994_70998del (p.Thr23665ArgfsTer10)
c.52757_52761del (p.Thr17586ArgfsTer10)
c.42611_42615del (p.Thr14204ArgfsTer10)
2g.178566267G>ACA1989424TTN,TTN-AS1c.72161C>T (p.Pro24054Leu)
c.53246C>T (p.Pro17749Leu)
c.53045C>T (p.Pro17682Leu)
c.52670C>T (p.Pro17557Leu)
c.79865C>T (p.Pro26622Leu)
c.74942C>T (p.Pro24981Leu)
n.447-5033G>A
n.2044-16305G>A
c.78962C>T (p.Pro26321Leu)
c.52856C>T (p.Pro17619Leu)
c.52715C>T (p.Pro17572Leu)
c.78758C>T (p.Pro26253Leu)
c.74156C>T (p.Pro24719Leu)
c.74153C>T (p.Pro24718Leu)
c.71195C>T (p.Pro23732Leu)
c.52811C>T (p.Pro17604Leu)
c.74306C>T (p.Pro24769Leu)
c.74303C>T (p.Pro24768Leu)
c.73736C>T (p.Pro24579Leu)
c.71078C>T (p.Pro23693Leu)
c.70997C>T (p.Pro23666Leu)
c.52760C>T (p.Pro17587Leu)
c.42614C>T (p.Pro14205Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178566267G>CCA349593276TTN,TTN-AS1c.72161C>G (p.Pro24054Arg)
c.53246C>G (p.Pro17749Arg)
c.53045C>G (p.Pro17682Arg)
c.52670C>G (p.Pro17557Arg)
c.79865C>G (p.Pro26622Arg)
c.74942C>G (p.Pro24981Arg)
n.447-5033G>C
n.2044-16305G>C
c.78962C>G (p.Pro26321Arg)
c.52856C>G (p.Pro17619Arg)
c.52715C>G (p.Pro17572Arg)
c.78758C>G (p.Pro26253Arg)
c.74156C>G (p.Pro24719Arg)
c.74153C>G (p.Pro24718Arg)
c.71195C>G (p.Pro23732Arg)
c.52811C>G (p.Pro17604Arg)
c.74306C>G (p.Pro24769Arg)
c.74303C>G (p.Pro24768Arg)
c.73736C>G (p.Pro24579Arg)
c.71078C>G (p.Pro23693Arg)
c.70997C>G (p.Pro23666Arg)
c.52760C>G (p.Pro17587Arg)
c.42614C>G (p.Pro14205Arg)
2g.178566267G=CA1310529443TTN,TTN-AS1c.72161C= (p.Pro24054=)
c.53246C= (p.Pro17749=)
c.53045C= (p.Pro17682=)
c.52670C= (p.Pro17557=)
c.79865C= (p.Pro26622=)
c.74942C= (p.Pro24981=)
n.447-5033G=
n.2044-16305G=
c.78962C= (p.Pro26321=)
c.52856C= (p.Pro17619=)
c.52715C= (p.Pro17572=)
c.78758C= (p.Pro26253=)
c.74156C= (p.Pro24719=)
c.74153C= (p.Pro24718=)
c.71195C= (p.Pro23732=)
c.52811C= (p.Pro17604=)
c.74306C= (p.Pro24769=)
c.74303C= (p.Pro24768=)
c.73736C= (p.Pro24579=)
c.71078C= (p.Pro23693=)
c.70997C= (p.Pro23666=)
c.52760C= (p.Pro17587=)
c.42614C= (p.Pro14205=)
2g.178566267G>TCA349593277TTN,TTN-AS1c.72161C>A (p.Pro24054His)
c.53246C>A (p.Pro17749His)
c.53045C>A (p.Pro17682His)
c.52670C>A (p.Pro17557His)
c.79865C>A (p.Pro26622His)
c.74942C>A (p.Pro24981His)
n.447-5033G>T
n.2044-16305G>T
c.78962C>A (p.Pro26321His)
c.52856C>A (p.Pro17619His)
c.52715C>A (p.Pro17572His)
c.78758C>A (p.Pro26253His)
c.74156C>A (p.Pro24719His)
c.74153C>A (p.Pro24718His)
c.71195C>A (p.Pro23732His)
c.52811C>A (p.Pro17604His)
c.74306C>A (p.Pro24769His)
c.74303C>A (p.Pro24768His)
c.73736C>A (p.Pro24579His)
c.71078C>A (p.Pro23693His)
c.70997C>A (p.Pro23666His)
c.52760C>A (p.Pro17587His)
c.42614C>A (p.Pro14205His)
2g.178566268G>ACA349593279TTN,TTN-AS1c.72160C>T (p.Pro24054Ser)
c.53245C>T (p.Pro17749Ser)
c.53044C>T (p.Pro17682Ser)
c.52669C>T (p.Pro17557Ser)
c.79864C>T (p.Pro26622Ser)
c.74941C>T (p.Pro24981Ser)
n.447-5032G>A
n.2044-16304G>A
c.78961C>T (p.Pro26321Ser)
c.52855C>T (p.Pro17619Ser)
c.52714C>T (p.Pro17572Ser)
c.78757C>T (p.Pro26253Ser)
c.74155C>T (p.Pro24719Ser)
c.74152C>T (p.Pro24718Ser)
c.71194C>T (p.Pro23732Ser)
c.52810C>T (p.Pro17604Ser)
c.74305C>T (p.Pro24769Ser)
c.74302C>T (p.Pro24768Ser)
c.73735C>T (p.Pro24579Ser)
c.71077C>T (p.Pro23693Ser)
c.70996C>T (p.Pro23666Ser)
c.52759C>T (p.Pro17587Ser)
c.42613C>T (p.Pro14205Ser)
 COSMIC COSMIC COSMIC COSMIC
2g.178566268G>CCA349593284TTN,TTN-AS1c.72160C>G (p.Pro24054Ala)
c.53245C>G (p.Pro17749Ala)
c.53044C>G (p.Pro17682Ala)
c.52669C>G (p.Pro17557Ala)
c.79864C>G (p.Pro26622Ala)
c.74941C>G (p.Pro24981Ala)
n.447-5032G>C
n.2044-16304G>C
c.78961C>G (p.Pro26321Ala)
c.52855C>G (p.Pro17619Ala)
c.52714C>G (p.Pro17572Ala)
c.78757C>G (p.Pro26253Ala)
c.74155C>G (p.Pro24719Ala)
c.74152C>G (p.Pro24718Ala)
c.71194C>G (p.Pro23732Ala)
c.52810C>G (p.Pro17604Ala)
c.74305C>G (p.Pro24769Ala)
c.74302C>G (p.Pro24768Ala)
c.73735C>G (p.Pro24579Ala)
c.71077C>G (p.Pro23693Ala)
c.70996C>G (p.Pro23666Ala)
c.52759C>G (p.Pro17587Ala)
c.42613C>G (p.Pro14205Ala)
2g.178566268G=CA1310529444TTN,TTN-AS1c.72160C= (p.Pro24054=)
c.53245C= (p.Pro17749=)
c.53044C= (p.Pro17682=)
c.52669C= (p.Pro17557=)
c.79864C= (p.Pro26622=)
c.74941C= (p.Pro24981=)
n.447-5032G=
n.2044-16304G=
c.78961C= (p.Pro26321=)
c.52855C= (p.Pro17619=)
c.52714C= (p.Pro17572=)
c.78757C= (p.Pro26253=)
c.74155C= (p.Pro24719=)
c.74152C= (p.Pro24718=)
c.71194C= (p.Pro23732=)
c.52810C= (p.Pro17604=)
c.74305C= (p.Pro24769=)
c.74302C= (p.Pro24768=)
c.73735C= (p.Pro24579=)
c.71077C= (p.Pro23693=)
c.70996C= (p.Pro23666=)
c.52759C= (p.Pro17587=)
c.42613C= (p.Pro14205=)

Number of alleles fetched