Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178530297delCA2662125628TTN,TTN-AS1c.98614del (p.Ala32872GlnfsTer?)
c.79699del (p.Ala26567GlnfsTer?)
c.79498del (p.Ala26500GlnfsTer?)
c.79123del (p.Ala26375GlnfsTer?)
c.106318del (p.Ala35440GlnfsTer?)
c.101395del (p.Ala33799GlnfsTer?)
n.446+6661del
n.220-5435del
c.105415del (p.Ala35139GlnfsTer?)
c.79309del (p.Ala26437GlnfsTer?)
c.79168del (p.Ala26390GlnfsTer?)
c.105211del (p.Ala35071GlnfsTer?)
c.100609del (p.Ala33537GlnfsTer?)
c.100606del (p.Ala33536GlnfsTer?)
c.97648del (p.Ala32550GlnfsTer?)
c.79264del (p.Ala26422GlnfsTer?)
c.100759del (p.Ala33587GlnfsTer?)
c.100756del (p.Ala33586GlnfsTer?)
c.100189del (p.Ala33397GlnfsTer?)
c.97531del (p.Ala32511GlnfsTer?)
c.97450del (p.Ala32484GlnfsTer?)
c.79213del (p.Ala26405GlnfsTer?)
c.69067del (p.Ala23023GlnfsTer?)
 gnomAD v4
2g.178530297C>ACA349406124TTN,TTN-AS1c.98614G>T (p.Ala32872Ser)
c.79699G>T (p.Ala26567Ser)
c.79498G>T (p.Ala26500Ser)
c.79123G>T (p.Ala26375Ser)
c.106318G>T (p.Ala35440Ser)
c.101395G>T (p.Ala33799Ser)
n.446+6661C>A
n.220-5435C>A
c.105415G>T (p.Ala35139Ser)
c.79309G>T (p.Ala26437Ser)
c.79168G>T (p.Ala26390Ser)
c.105211G>T (p.Ala35071Ser)
c.100609G>T (p.Ala33537Ser)
c.100606G>T (p.Ala33536Ser)
c.97648G>T (p.Ala32550Ser)
c.79264G>T (p.Ala26422Ser)
c.100759G>T (p.Ala33587Ser)
c.100756G>T (p.Ala33586Ser)
c.100189G>T (p.Ala33397Ser)
c.97531G>T (p.Ala32511Ser)
c.97450G>T (p.Ala32484Ser)
c.79213G>T (p.Ala26405Ser)
c.69067G>T (p.Ala23023Ser)
 gnomAD v4
2g.178530297C>GCA349406126TTN,TTN-AS1c.98614G>C (p.Ala32872Pro)
c.79699G>C (p.Ala26567Pro)
c.79498G>C (p.Ala26500Pro)
c.79123G>C (p.Ala26375Pro)
c.106318G>C (p.Ala35440Pro)
c.101395G>C (p.Ala33799Pro)
n.446+6661C>G
n.220-5435C>G
c.105415G>C (p.Ala35139Pro)
c.79309G>C (p.Ala26437Pro)
c.79168G>C (p.Ala26390Pro)
c.105211G>C (p.Ala35071Pro)
c.100609G>C (p.Ala33537Pro)
c.100606G>C (p.Ala33536Pro)
c.97648G>C (p.Ala32550Pro)
c.79264G>C (p.Ala26422Pro)
c.100759G>C (p.Ala33587Pro)
c.100756G>C (p.Ala33586Pro)
c.100189G>C (p.Ala33397Pro)
c.97531G>C (p.Ala32511Pro)
c.97450G>C (p.Ala32484Pro)
c.79213G>C (p.Ala26405Pro)
c.69067G>C (p.Ala23023Pro)
2g.178530297C>TCA349406130TTN,TTN-AS1c.98614G>A (p.Ala32872Thr)
c.79699G>A (p.Ala26567Thr)
c.79498G>A (p.Ala26500Thr)
c.79123G>A (p.Ala26375Thr)
c.106318G>A (p.Ala35440Thr)
c.101395G>A (p.Ala33799Thr)
n.446+6661C>T
n.220-5435C>T
c.105415G>A (p.Ala35139Thr)
c.79309G>A (p.Ala26437Thr)
c.79168G>A (p.Ala26390Thr)
c.105211G>A (p.Ala35071Thr)
c.100609G>A (p.Ala33537Thr)
c.100606G>A (p.Ala33536Thr)
c.97648G>A (p.Ala32550Thr)
c.79264G>A (p.Ala26422Thr)
c.100759G>A (p.Ala33587Thr)
c.100756G>A (p.Ala33586Thr)
c.100189G>A (p.Ala33397Thr)
c.97531G>A (p.Ala32511Thr)
c.97450G>A (p.Ala32484Thr)
c.79213G>A (p.Ala26405Thr)
c.69067G>A (p.Ala23023Thr)
2g.178530298A>CCA349406133TTN,TTN-AS1c.98613T>G (p.Phe32871Leu)
c.79698T>G (p.Phe26566Leu)
c.79497T>G (p.Phe26499Leu)
c.79122T>G (p.Phe26374Leu)
c.106317T>G (p.Phe35439Leu)
c.101394T>G (p.Phe33798Leu)
n.446+6662A>C
n.220-5434A>C
c.105414T>G (p.Phe35138Leu)
c.79308T>G (p.Phe26436Leu)
c.79167T>G (p.Phe26389Leu)
c.105210T>G (p.Phe35070Leu)
c.100608T>G (p.Phe33536Leu)
c.100605T>G (p.Phe33535Leu)
c.97647T>G (p.Phe32549Leu)
c.79263T>G (p.Phe26421Leu)
c.100758T>G (p.Phe33586Leu)
c.100755T>G (p.Phe33585Leu)
c.100188T>G (p.Phe33396Leu)
c.97530T>G (p.Phe32510Leu)
c.97449T>G (p.Phe32483Leu)
c.79212T>G (p.Phe26404Leu)
c.69066T>G (p.Phe23022Leu)
 gnomAD v4
2g.178530298A>GCA430235091TTN,TTN-AS1c.98613T>C (p.Phe32871=)
c.79698T>C (p.Phe26566=)
c.79497T>C (p.Phe26499=)
c.79122T>C (p.Phe26374=)
c.106317T>C (p.Phe35439=)
c.101394T>C (p.Phe33798=)
n.446+6662A>G
n.220-5434A>G
c.105414T>C (p.Phe35138=)
c.79308T>C (p.Phe26436=)
c.79167T>C (p.Phe26389=)
c.105210T>C (p.Phe35070=)
c.100608T>C (p.Phe33536=)
c.100605T>C (p.Phe33535=)
c.97647T>C (p.Phe32549=)
c.79263T>C (p.Phe26421=)
c.100758T>C (p.Phe33586=)
c.100755T>C (p.Phe33585=)
c.100188T>C (p.Phe33396=)
c.97530T>C (p.Phe32510=)
c.97449T>C (p.Phe32483=)
c.79212T>C (p.Phe26404=)
c.69066T>C (p.Phe23022=)
2g.178530298A>TCA349406135TTN,TTN-AS1c.98613T>A (p.Phe32871Leu)
c.79698T>A (p.Phe26566Leu)
c.79497T>A (p.Phe26499Leu)
c.79122T>A (p.Phe26374Leu)
c.106317T>A (p.Phe35439Leu)
c.101394T>A (p.Phe33798Leu)
n.446+6662A>T
n.220-5434A>T
c.105414T>A (p.Phe35138Leu)
c.79308T>A (p.Phe26436Leu)
c.79167T>A (p.Phe26389Leu)
c.105210T>A (p.Phe35070Leu)
c.100608T>A (p.Phe33536Leu)
c.100605T>A (p.Phe33535Leu)
c.97647T>A (p.Phe32549Leu)
c.79263T>A (p.Phe26421Leu)
c.100758T>A (p.Phe33586Leu)
c.100755T>A (p.Phe33585Leu)
c.100188T>A (p.Phe33396Leu)
c.97530T>A (p.Phe32510Leu)
c.97449T>A (p.Phe32483Leu)
c.79212T>A (p.Phe26404Leu)
c.69066T>A (p.Phe23022Leu)
2g.178530299A=CA1310511738TTN,TTN-AS1c.98612T= (p.Phe32871=)
c.79697T= (p.Phe26566=)
c.79496T= (p.Phe26499=)
c.79121T= (p.Phe26374=)
c.106316T= (p.Phe35439=)
c.101393T= (p.Phe33798=)
n.446+6663A=
n.220-5433A=
c.105413T= (p.Phe35138=)
c.79307T= (p.Phe26436=)
c.79166T= (p.Phe26389=)
c.105209T= (p.Phe35070=)
c.100607T= (p.Phe33536=)
c.100604T= (p.Phe33535=)
c.97646T= (p.Phe32549=)
c.79262T= (p.Phe26421=)
c.100757T= (p.Phe33586=)
c.100754T= (p.Phe33585=)
c.100187T= (p.Phe33396=)
c.97529T= (p.Phe32510=)
c.97448T= (p.Phe32483=)
c.79211T= (p.Phe26404=)
c.69065T= (p.Phe23022=)
2g.178530299A>CCA60953272TTN,TTN-AS1c.98612T>G (p.Phe32871Cys)
c.79697T>G (p.Phe26566Cys)
c.79496T>G (p.Phe26499Cys)
c.79121T>G (p.Phe26374Cys)
c.106316T>G (p.Phe35439Cys)
c.101393T>G (p.Phe33798Cys)
n.446+6663A>C
n.220-5433A>C
c.105413T>G (p.Phe35138Cys)
c.79307T>G (p.Phe26436Cys)
c.79166T>G (p.Phe26389Cys)
c.105209T>G (p.Phe35070Cys)
c.100607T>G (p.Phe33536Cys)
c.100604T>G (p.Phe33535Cys)
c.97646T>G (p.Phe32549Cys)
c.79262T>G (p.Phe26421Cys)
c.100757T>G (p.Phe33586Cys)
c.100754T>G (p.Phe33585Cys)
c.100187T>G (p.Phe33396Cys)
c.97529T>G (p.Phe32510Cys)
c.97448T>G (p.Phe32483Cys)
c.79211T>G (p.Phe26404Cys)
c.69065T>G (p.Phe23022Cys)
 dbSNP
2g.178530299A>GCA349406139TTN,TTN-AS1c.98612T>C (p.Phe32871Ser)
c.79697T>C (p.Phe26566Ser)
c.79496T>C (p.Phe26499Ser)
c.79121T>C (p.Phe26374Ser)
c.106316T>C (p.Phe35439Ser)
c.101393T>C (p.Phe33798Ser)
n.446+6663A>G
n.220-5433A>G
c.105413T>C (p.Phe35138Ser)
c.79307T>C (p.Phe26436Ser)
c.79166T>C (p.Phe26389Ser)
c.105209T>C (p.Phe35070Ser)
c.100607T>C (p.Phe33536Ser)
c.100604T>C (p.Phe33535Ser)
c.97646T>C (p.Phe32549Ser)
c.79262T>C (p.Phe26421Ser)
c.100757T>C (p.Phe33586Ser)
c.100754T>C (p.Phe33585Ser)
c.100187T>C (p.Phe33396Ser)
c.97529T>C (p.Phe32510Ser)
c.97448T>C (p.Phe32483Ser)
c.79211T>C (p.Phe26404Ser)
c.69065T>C (p.Phe23022Ser)
 gnomAD v4
2g.178530299A>TCA349406142TTN,TTN-AS1c.98612T>A (p.Phe32871Tyr)
c.79697T>A (p.Phe26566Tyr)
c.79496T>A (p.Phe26499Tyr)
c.79121T>A (p.Phe26374Tyr)
c.106316T>A (p.Phe35439Tyr)
c.101393T>A (p.Phe33798Tyr)
n.446+6663A>T
n.220-5433A>T
c.105413T>A (p.Phe35138Tyr)
c.79307T>A (p.Phe26436Tyr)
c.79166T>A (p.Phe26389Tyr)
c.105209T>A (p.Phe35070Tyr)
c.100607T>A (p.Phe33536Tyr)
c.100604T>A (p.Phe33535Tyr)
c.97646T>A (p.Phe32549Tyr)
c.79262T>A (p.Phe26421Tyr)
c.100757T>A (p.Phe33586Tyr)
c.100754T>A (p.Phe33585Tyr)
c.100187T>A (p.Phe33396Tyr)
c.97529T>A (p.Phe32510Tyr)
c.97448T>A (p.Phe32483Tyr)
c.79211T>A (p.Phe26404Tyr)
c.69065T>A (p.Phe23022Tyr)
2g.178530300A>CCA349406148TTN,TTN-AS1c.98611T>G (p.Phe32871Val)
c.79696T>G (p.Phe26566Val)
c.79495T>G (p.Phe26499Val)
c.79120T>G (p.Phe26374Val)
c.106315T>G (p.Phe35439Val)
c.101392T>G (p.Phe33798Val)
n.446+6664A>C
n.220-5432A>C
c.105412T>G (p.Phe35138Val)
c.79306T>G (p.Phe26436Val)
c.79165T>G (p.Phe26389Val)
c.105208T>G (p.Phe35070Val)
c.100606T>G (p.Phe33536Val)
c.100603T>G (p.Phe33535Val)
c.97645T>G (p.Phe32549Val)
c.79261T>G (p.Phe26421Val)
c.100756T>G (p.Phe33586Val)
c.100753T>G (p.Phe33585Val)
c.100186T>G (p.Phe33396Val)
c.97528T>G (p.Phe32510Val)
c.97447T>G (p.Phe32483Val)
c.79210T>G (p.Phe26404Val)
c.69064T>G (p.Phe23022Val)
2g.178530300A>GCA349406150TTN,TTN-AS1c.98611T>C (p.Phe32871Leu)
c.79696T>C (p.Phe26566Leu)
c.79495T>C (p.Phe26499Leu)
c.79120T>C (p.Phe26374Leu)
c.106315T>C (p.Phe35439Leu)
c.101392T>C (p.Phe33798Leu)
n.446+6664A>G
n.220-5432A>G
c.105412T>C (p.Phe35138Leu)
c.79306T>C (p.Phe26436Leu)
c.79165T>C (p.Phe26389Leu)
c.105208T>C (p.Phe35070Leu)
c.100606T>C (p.Phe33536Leu)
c.100603T>C (p.Phe33535Leu)
c.97645T>C (p.Phe32549Leu)
c.79261T>C (p.Phe26421Leu)
c.100756T>C (p.Phe33586Leu)
c.100753T>C (p.Phe33585Leu)
c.100186T>C (p.Phe33396Leu)
c.97528T>C (p.Phe32510Leu)
c.97447T>C (p.Phe32483Leu)
c.79210T>C (p.Phe26404Leu)
c.69064T>C (p.Phe23022Leu)
2g.178530300A>TCA349406145TTN,TTN-AS1c.98611T>A (p.Phe32871Ile)
c.79696T>A (p.Phe26566Ile)
c.79495T>A (p.Phe26499Ile)
c.79120T>A (p.Phe26374Ile)
c.106315T>A (p.Phe35439Ile)
c.101392T>A (p.Phe33798Ile)
n.446+6664A>T
n.220-5432A>T
c.105412T>A (p.Phe35138Ile)
c.79306T>A (p.Phe26436Ile)
c.79165T>A (p.Phe26389Ile)
c.105208T>A (p.Phe35070Ile)
c.100606T>A (p.Phe33536Ile)
c.100603T>A (p.Phe33535Ile)
c.97645T>A (p.Phe32549Ile)
c.79261T>A (p.Phe26421Ile)
c.100756T>A (p.Phe33586Ile)
c.100753T>A (p.Phe33585Ile)
c.100186T>A (p.Phe33396Ile)
c.97528T>A (p.Phe32510Ile)
c.97447T>A (p.Phe32483Ile)
c.79210T>A (p.Phe26404Ile)
c.69064T>A (p.Phe23022Ile)
2g.178530301T>ACA349406153TTN,TTN-AS1c.98610A>T (p.Lys32870Asn)
c.79695A>T (p.Lys26565Asn)
c.79494A>T (p.Lys26498Asn)
c.79119A>T (p.Lys26373Asn)
c.106314A>T (p.Lys35438Asn)
c.101391A>T (p.Lys33797Asn)
n.446+6665T>A
n.220-5431T>A
c.105411A>T (p.Lys35137Asn)
c.79305A>T (p.Lys26435Asn)
c.79164A>T (p.Lys26388Asn)
c.105207A>T (p.Lys35069Asn)
c.100605A>T (p.Lys33535Asn)
c.100602A>T (p.Lys33534Asn)
c.97644A>T (p.Lys32548Asn)
c.79260A>T (p.Lys26420Asn)
c.100755A>T (p.Lys33585Asn)
c.100752A>T (p.Lys33584Asn)
c.100185A>T (p.Lys33395Asn)
c.97527A>T (p.Lys32509Asn)
c.97446A>T (p.Lys32482Asn)
c.79209A>T (p.Lys26403Asn)
c.69063A>T (p.Lys23021Asn)
2g.178530301T>CCA430235094TTN,TTN-AS1c.98610A>G (p.Lys32870=)
c.79695A>G (p.Lys26565=)
c.79494A>G (p.Lys26498=)
c.79119A>G (p.Lys26373=)
c.106314A>G (p.Lys35438=)
c.101391A>G (p.Lys33797=)
n.446+6665T>C
n.220-5431T>C
c.105411A>G (p.Lys35137=)
c.79305A>G (p.Lys26435=)
c.79164A>G (p.Lys26388=)
c.105207A>G (p.Lys35069=)
c.100605A>G (p.Lys33535=)
c.100602A>G (p.Lys33534=)
c.97644A>G (p.Lys32548=)
c.79260A>G (p.Lys26420=)
c.100755A>G (p.Lys33585=)
c.100752A>G (p.Lys33584=)
c.100185A>G (p.Lys33395=)
c.97527A>G (p.Lys32509=)
c.97446A>G (p.Lys32482=)
c.79209A>G (p.Lys26403=)
c.69063A>G (p.Lys23021=)
2g.178530301T>GCA349406156TTN,TTN-AS1c.98610A>C (p.Lys32870Asn)
c.79695A>C (p.Lys26565Asn)
c.79494A>C (p.Lys26498Asn)
c.79119A>C (p.Lys26373Asn)
c.106314A>C (p.Lys35438Asn)
c.101391A>C (p.Lys33797Asn)
n.446+6665T>G
n.220-5431T>G
c.105411A>C (p.Lys35137Asn)
c.79305A>C (p.Lys26435Asn)
c.79164A>C (p.Lys26388Asn)
c.105207A>C (p.Lys35069Asn)
c.100605A>C (p.Lys33535Asn)
c.100602A>C (p.Lys33534Asn)
c.97644A>C (p.Lys32548Asn)
c.79260A>C (p.Lys26420Asn)
c.100755A>C (p.Lys33585Asn)
c.100752A>C (p.Lys33584Asn)
c.100185A>C (p.Lys33395Asn)
c.97527A>C (p.Lys32509Asn)
c.97446A>C (p.Lys32482Asn)
c.79209A>C (p.Lys26403Asn)
c.69063A>C (p.Lys23021Asn)
2g.178530302T>ACA349406159TTN,TTN-AS1c.98609A>T (p.Lys32870Ile)
c.79694A>T (p.Lys26565Ile)
c.79493A>T (p.Lys26498Ile)
c.79118A>T (p.Lys26373Ile)
c.106313A>T (p.Lys35438Ile)
c.101390A>T (p.Lys33797Ile)
n.446+6666T>A
n.220-5430T>A
c.105410A>T (p.Lys35137Ile)
c.79304A>T (p.Lys26435Ile)
c.79163A>T (p.Lys26388Ile)
c.105206A>T (p.Lys35069Ile)
c.100604A>T (p.Lys33535Ile)
c.100601A>T (p.Lys33534Ile)
c.97643A>T (p.Lys32548Ile)
c.79259A>T (p.Lys26420Ile)
c.100754A>T (p.Lys33585Ile)
c.100751A>T (p.Lys33584Ile)
c.100184A>T (p.Lys33395Ile)
c.97526A>T (p.Lys32509Ile)
c.97445A>T (p.Lys32482Ile)
c.79208A>T (p.Lys26403Ile)
c.69062A>T (p.Lys23021Ile)
2g.178530302T>CCA349406162TTN,TTN-AS1c.98609A>G (p.Lys32870Arg)
c.79694A>G (p.Lys26565Arg)
c.79493A>G (p.Lys26498Arg)
c.79118A>G (p.Lys26373Arg)
c.106313A>G (p.Lys35438Arg)
c.101390A>G (p.Lys33797Arg)
n.446+6666T>C
n.220-5430T>C
c.105410A>G (p.Lys35137Arg)
c.79304A>G (p.Lys26435Arg)
c.79163A>G (p.Lys26388Arg)
c.105206A>G (p.Lys35069Arg)
c.100604A>G (p.Lys33535Arg)
c.100601A>G (p.Lys33534Arg)
c.97643A>G (p.Lys32548Arg)
c.79259A>G (p.Lys26420Arg)
c.100754A>G (p.Lys33585Arg)
c.100751A>G (p.Lys33584Arg)
c.100184A>G (p.Lys33395Arg)
c.97526A>G (p.Lys32509Arg)
c.97445A>G (p.Lys32482Arg)
c.79208A>G (p.Lys26403Arg)
c.69062A>G (p.Lys23021Arg)
2g.178530302T>GCA349406165TTN,TTN-AS1c.98609A>C (p.Lys32870Thr)
c.79694A>C (p.Lys26565Thr)
c.79493A>C (p.Lys26498Thr)
c.79118A>C (p.Lys26373Thr)
c.106313A>C (p.Lys35438Thr)
c.101390A>C (p.Lys33797Thr)
n.446+6666T>G
n.220-5430T>G
c.105410A>C (p.Lys35137Thr)
c.79304A>C (p.Lys26435Thr)
c.79163A>C (p.Lys26388Thr)
c.105206A>C (p.Lys35069Thr)
c.100604A>C (p.Lys33535Thr)
c.100601A>C (p.Lys33534Thr)
c.97643A>C (p.Lys32548Thr)
c.79259A>C (p.Lys26420Thr)
c.100754A>C (p.Lys33585Thr)
c.100751A>C (p.Lys33584Thr)
c.100184A>C (p.Lys33395Thr)
c.97526A>C (p.Lys32509Thr)
c.97445A>C (p.Lys32482Thr)
c.79208A>C (p.Lys26403Thr)
c.69062A>C (p.Lys23021Thr)
2g.178530303T>ACA349406171TTN,TTN-AS1c.98608A>T (p.Lys32870Ter)
c.79693A>T (p.Lys26565Ter)
c.79492A>T (p.Lys26498Ter)
c.79117A>T (p.Lys26373Ter)
c.106312A>T (p.Lys35438Ter)
c.101389A>T (p.Lys33797Ter)
n.446+6667T>A
n.220-5429T>A
c.105409A>T (p.Lys35137Ter)
c.79303A>T (p.Lys26435Ter)
c.79162A>T (p.Lys26388Ter)
c.105205A>T (p.Lys35069Ter)
c.100603A>T (p.Lys33535Ter)
c.100600A>T (p.Lys33534Ter)
c.97642A>T (p.Lys32548Ter)
c.79258A>T (p.Lys26420Ter)
c.100753A>T (p.Lys33585Ter)
c.100750A>T (p.Lys33584Ter)
c.100183A>T (p.Lys33395Ter)
c.97525A>T (p.Lys32509Ter)
c.97444A>T (p.Lys32482Ter)
c.79207A>T (p.Lys26403Ter)
c.69061A>T (p.Lys23021Ter)
2g.178530303T>CCA1985129TTN,TTN-AS1c.98608A>G (p.Lys32870Glu)
c.79693A>G (p.Lys26565Glu)
c.79492A>G (p.Lys26498Glu)
c.79117A>G (p.Lys26373Glu)
c.106312A>G (p.Lys35438Glu)
c.101389A>G (p.Lys33797Glu)
n.446+6667T>C
n.220-5429T>C
c.105409A>G (p.Lys35137Glu)
c.79303A>G (p.Lys26435Glu)
c.79162A>G (p.Lys26388Glu)
c.105205A>G (p.Lys35069Glu)
c.100603A>G (p.Lys33535Glu)
c.100600A>G (p.Lys33534Glu)
c.97642A>G (p.Lys32548Glu)
c.79258A>G (p.Lys26420Glu)
c.100753A>G (p.Lys33585Glu)
c.100750A>G (p.Lys33584Glu)
c.100183A>G (p.Lys33395Glu)
c.97525A>G (p.Lys32509Glu)
c.97444A>G (p.Lys32482Glu)
c.79207A>G (p.Lys26403Glu)
c.69061A>G (p.Lys23021Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178530303T>GCA349406169TTN,TTN-AS1c.98608A>C (p.Lys32870Gln)
c.79693A>C (p.Lys26565Gln)
c.79492A>C (p.Lys26498Gln)
c.79117A>C (p.Lys26373Gln)
c.106312A>C (p.Lys35438Gln)
c.101389A>C (p.Lys33797Gln)
n.446+6667T>G
n.220-5429T>G
c.105409A>C (p.Lys35137Gln)
c.79303A>C (p.Lys26435Gln)
c.79162A>C (p.Lys26388Gln)
c.105205A>C (p.Lys35069Gln)
c.100603A>C (p.Lys33535Gln)
c.100600A>C (p.Lys33534Gln)
c.97642A>C (p.Lys32548Gln)
c.79258A>C (p.Lys26420Gln)
c.100753A>C (p.Lys33585Gln)
c.100750A>C (p.Lys33584Gln)
c.100183A>C (p.Lys33395Gln)
c.97525A>C (p.Lys32509Gln)
c.97444A>C (p.Lys32482Gln)
c.79207A>C (p.Lys26403Gln)
c.69061A>C (p.Lys23021Gln)
2g.178530303T=CA1310511741TTN,TTN-AS1c.98608A= (p.Lys32870=)
c.79693A= (p.Lys26565=)
c.79492A= (p.Lys26498=)
c.79117A= (p.Lys26373=)
c.106312A= (p.Lys35438=)
c.101389A= (p.Lys33797=)
n.446+6667T=
n.220-5429T=
c.105409A= (p.Lys35137=)
c.79303A= (p.Lys26435=)
c.79162A= (p.Lys26388=)
c.105205A= (p.Lys35069=)
c.100603A= (p.Lys33535=)
c.100600A= (p.Lys33534=)
c.97642A= (p.Lys32548=)
c.79258A= (p.Lys26420=)
c.100753A= (p.Lys33585=)
c.100750A= (p.Lys33584=)
c.100183A= (p.Lys33395=)
c.97525A= (p.Lys32509=)
c.97444A= (p.Lys32482=)
c.79207A= (p.Lys26403=)
c.69061A= (p.Lys23021=)
2g.178530304A=CA1310511744TTN,TTN-AS1c.98607T= (p.Ala32869=)
c.79692T= (p.Ala26564=)
c.79491T= (p.Ala26497=)
c.79116T= (p.Ala26372=)
c.106311T= (p.Ala35437=)
c.101388T= (p.Ala33796=)
n.446+6668A=
n.220-5428A=
c.105408T= (p.Ala35136=)
c.79302T= (p.Ala26434=)
c.79161T= (p.Ala26387=)
c.105204T= (p.Ala35068=)
c.100602T= (p.Ala33534=)
c.100599T= (p.Ala33533=)
c.97641T= (p.Ala32547=)
c.79257T= (p.Ala26419=)
c.100752T= (p.Ala33584=)
c.100749T= (p.Ala33583=)
c.100182T= (p.Ala33394=)
c.97524T= (p.Ala32508=)
c.97443T= (p.Ala32481=)
c.79206T= (p.Ala26402=)
c.69060T= (p.Ala23020=)
2g.178530304A>CCA430235100TTN,TTN-AS1c.98607T>G (p.Ala32869=)
c.79692T>G (p.Ala26564=)
c.79491T>G (p.Ala26497=)
c.79116T>G (p.Ala26372=)
c.106311T>G (p.Ala35437=)
c.101388T>G (p.Ala33796=)
n.446+6668A>C
n.220-5428A>C
c.105408T>G (p.Ala35136=)
c.79302T>G (p.Ala26434=)
c.79161T>G (p.Ala26387=)
c.105204T>G (p.Ala35068=)
c.100602T>G (p.Ala33534=)
c.100599T>G (p.Ala33533=)
c.97641T>G (p.Ala32547=)
c.79257T>G (p.Ala26419=)
c.100752T>G (p.Ala33584=)
c.100749T>G (p.Ala33583=)
c.100182T>G (p.Ala33394=)
c.97524T>G (p.Ala32508=)
c.97443T>G (p.Ala32481=)
c.79206T>G (p.Ala26402=)
c.69060T>G (p.Ala23020=)
2g.178530304A>GCA1985131TTN,TTN-AS1c.98607T>C (p.Ala32869=)
c.79692T>C (p.Ala26564=)
c.79491T>C (p.Ala26497=)
c.79116T>C (p.Ala26372=)
c.106311T>C (p.Ala35437=)
c.101388T>C (p.Ala33796=)
n.446+6668A>G
n.220-5428A>G
c.105408T>C (p.Ala35136=)
c.79302T>C (p.Ala26434=)
c.79161T>C (p.Ala26387=)
c.105204T>C (p.Ala35068=)
c.100602T>C (p.Ala33534=)
c.100599T>C (p.Ala33533=)
c.97641T>C (p.Ala32547=)
c.79257T>C (p.Ala26419=)
c.100752T>C (p.Ala33584=)
c.100749T>C (p.Ala33583=)
c.100182T>C (p.Ala33394=)
c.97524T>C (p.Ala32508=)
c.97443T>C (p.Ala32481=)
c.79206T>C (p.Ala26402=)
c.69060T>C (p.Ala23020=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530304A>TCA1985130TTN,TTN-AS1c.98607T>A (p.Ala32869=)
c.79692T>A (p.Ala26564=)
c.79491T>A (p.Ala26497=)
c.79116T>A (p.Ala26372=)
c.106311T>A (p.Ala35437=)
c.101388T>A (p.Ala33796=)
n.446+6668A>T
n.220-5428A>T
c.105408T>A (p.Ala35136=)
c.79302T>A (p.Ala26434=)
c.79161T>A (p.Ala26387=)
c.105204T>A (p.Ala35068=)
c.100602T>A (p.Ala33534=)
c.100599T>A (p.Ala33533=)
c.97641T>A (p.Ala32547=)
c.79257T>A (p.Ala26419=)
c.100752T>A (p.Ala33584=)
c.100749T>A (p.Ala33583=)
c.100182T>A (p.Ala33394=)
c.97524T>A (p.Ala32508=)
c.97443T>A (p.Ala32481=)
c.79206T>A (p.Ala26402=)
c.69060T>A (p.Ala23020=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178530305G>ACA349406178TTN,TTN-AS1c.98606C>T (p.Ala32869Val)
c.79691C>T (p.Ala26564Val)
c.79490C>T (p.Ala26497Val)
c.79115C>T (p.Ala26372Val)
c.106310C>T (p.Ala35437Val)
c.101387C>T (p.Ala33796Val)
n.446+6669G>A
n.220-5427G>A
c.105407C>T (p.Ala35136Val)
c.79301C>T (p.Ala26434Val)
c.79160C>T (p.Ala26387Val)
c.105203C>T (p.Ala35068Val)
c.100601C>T (p.Ala33534Val)
c.100598C>T (p.Ala33533Val)
c.97640C>T (p.Ala32547Val)
c.79256C>T (p.Ala26419Val)
c.100751C>T (p.Ala33584Val)
c.100748C>T (p.Ala33583Val)
c.100181C>T (p.Ala33394Val)
c.97523C>T (p.Ala32508Val)
c.97442C>T (p.Ala32481Val)
c.79205C>T (p.Ala26402Val)
c.69059C>T (p.Ala23020Val)
2g.178530305G>CCA349406180TTN,TTN-AS1c.98606C>G (p.Ala32869Gly)
c.79691C>G (p.Ala26564Gly)
c.79490C>G (p.Ala26497Gly)
c.79115C>G (p.Ala26372Gly)
c.106310C>G (p.Ala35437Gly)
c.101387C>G (p.Ala33796Gly)
n.446+6669G>C
n.220-5427G>C
c.105407C>G (p.Ala35136Gly)
c.79301C>G (p.Ala26434Gly)
c.79160C>G (p.Ala26387Gly)
c.105203C>G (p.Ala35068Gly)
c.100601C>G (p.Ala33534Gly)
c.100598C>G (p.Ala33533Gly)
c.97640C>G (p.Ala32547Gly)
c.79256C>G (p.Ala26419Gly)
c.100751C>G (p.Ala33584Gly)
c.100748C>G (p.Ala33583Gly)
c.100181C>G (p.Ala33394Gly)
c.97523C>G (p.Ala32508Gly)
c.97442C>G (p.Ala32481Gly)
c.79205C>G (p.Ala26402Gly)
c.69059C>G (p.Ala23020Gly)
2g.178530305G>TCA349406182TTN,TTN-AS1c.98606C>A (p.Ala32869Asp)
c.79691C>A (p.Ala26564Asp)
c.79490C>A (p.Ala26497Asp)
c.79115C>A (p.Ala26372Asp)
c.106310C>A (p.Ala35437Asp)
c.101387C>A (p.Ala33796Asp)
n.446+6669G>T
n.220-5427G>T
c.105407C>A (p.Ala35136Asp)
c.79301C>A (p.Ala26434Asp)
c.79160C>A (p.Ala26387Asp)
c.105203C>A (p.Ala35068Asp)
c.100601C>A (p.Ala33534Asp)
c.100598C>A (p.Ala33533Asp)
c.97640C>A (p.Ala32547Asp)
c.79256C>A (p.Ala26419Asp)
c.100751C>A (p.Ala33584Asp)
c.100748C>A (p.Ala33583Asp)
c.100181C>A (p.Ala33394Asp)
c.97523C>A (p.Ala32508Asp)
c.97442C>A (p.Ala32481Asp)
c.79205C>A (p.Ala26402Asp)
c.69059C>A (p.Ala23020Asp)
2g.178530306C>ACA349406192TTN,TTN-AS1c.98605G>T (p.Ala32869Ser)
c.79690G>T (p.Ala26564Ser)
c.79489G>T (p.Ala26497Ser)
c.79114G>T (p.Ala26372Ser)
c.106309G>T (p.Ala35437Ser)
c.101386G>T (p.Ala33796Ser)
n.446+6670C>A
n.220-5426C>A
c.105406G>T (p.Ala35136Ser)
c.79300G>T (p.Ala26434Ser)
c.79159G>T (p.Ala26387Ser)
c.105202G>T (p.Ala35068Ser)
c.100600G>T (p.Ala33534Ser)
c.100597G>T (p.Ala33533Ser)
c.97639G>T (p.Ala32547Ser)
c.79255G>T (p.Ala26419Ser)
c.100750G>T (p.Ala33584Ser)
c.100747G>T (p.Ala33583Ser)
c.100180G>T (p.Ala33394Ser)
c.97522G>T (p.Ala32508Ser)
c.97441G>T (p.Ala32481Ser)
c.79204G>T (p.Ala26402Ser)
c.69058G>T (p.Ala23020Ser)
2g.178530306C>GCA349406188TTN,TTN-AS1c.98605G>C (p.Ala32869Pro)
c.79690G>C (p.Ala26564Pro)
c.79489G>C (p.Ala26497Pro)
c.79114G>C (p.Ala26372Pro)
c.106309G>C (p.Ala35437Pro)
c.101386G>C (p.Ala33796Pro)
n.446+6670C>G
n.220-5426C>G
c.105406G>C (p.Ala35136Pro)
c.79300G>C (p.Ala26434Pro)
c.79159G>C (p.Ala26387Pro)
c.105202G>C (p.Ala35068Pro)
c.100600G>C (p.Ala33534Pro)
c.100597G>C (p.Ala33533Pro)
c.97639G>C (p.Ala32547Pro)
c.79255G>C (p.Ala26419Pro)
c.100750G>C (p.Ala33584Pro)
c.100747G>C (p.Ala33583Pro)
c.100180G>C (p.Ala33394Pro)
c.97522G>C (p.Ala32508Pro)
c.97441G>C (p.Ala32481Pro)
c.79204G>C (p.Ala26402Pro)
c.69058G>C (p.Ala23020Pro)
2g.178530306C>TCA349406187TTN,TTN-AS1c.98605G>A (p.Ala32869Thr)
c.79690G>A (p.Ala26564Thr)
c.79489G>A (p.Ala26497Thr)
c.79114G>A (p.Ala26372Thr)
c.106309G>A (p.Ala35437Thr)
c.101386G>A (p.Ala33796Thr)
n.446+6670C>T
n.220-5426C>T
c.105406G>A (p.Ala35136Thr)
c.79300G>A (p.Ala26434Thr)
c.79159G>A (p.Ala26387Thr)
c.105202G>A (p.Ala35068Thr)
c.100600G>A (p.Ala33534Thr)
c.100597G>A (p.Ala33533Thr)
c.97639G>A (p.Ala32547Thr)
c.79255G>A (p.Ala26419Thr)
c.100750G>A (p.Ala33584Thr)
c.100747G>A (p.Ala33583Thr)
c.100180G>A (p.Ala33394Thr)
c.97522G>A (p.Ala32508Thr)
c.97441G>A (p.Ala32481Thr)
c.79204G>A (p.Ala26402Thr)
c.69058G>A (p.Ala23020Thr)
 gnomAD v4
2g.178530307A=CA1310511749TTN,TTN-AS1c.98604T= (p.Val32868=)
c.79689T= (p.Val26563=)
c.79488T= (p.Val26496=)
c.79113T= (p.Val26371=)
c.106308T= (p.Val35436=)
c.101385T= (p.Val33795=)
n.446+6671A=
n.220-5425A=
c.105405T= (p.Val35135=)
c.79299T= (p.Val26433=)
c.79158T= (p.Val26386=)
c.105201T= (p.Val35067=)
c.100599T= (p.Val33533=)
c.100596T= (p.Val33532=)
c.97638T= (p.Val32546=)
c.79254T= (p.Val26418=)
c.100749T= (p.Val33583=)
c.100746T= (p.Val33582=)
c.100179T= (p.Val33393=)
c.97521T= (p.Val32507=)
c.97440T= (p.Val32480=)
c.79203T= (p.Val26401=)
c.69057T= (p.Val23019=)
2g.178530307A>CCA430235107TTN,TTN-AS1c.98604T>G (p.Val32868=)
c.79689T>G (p.Val26563=)
c.79488T>G (p.Val26496=)
c.79113T>G (p.Val26371=)
c.106308T>G (p.Val35436=)
c.101385T>G (p.Val33795=)
n.446+6671A>C
n.220-5425A>C
c.105405T>G (p.Val35135=)
c.79299T>G (p.Val26433=)
c.79158T>G (p.Val26386=)
c.105201T>G (p.Val35067=)
c.100599T>G (p.Val33533=)
c.100596T>G (p.Val33532=)
c.97638T>G (p.Val32546=)
c.79254T>G (p.Val26418=)
c.100749T>G (p.Val33583=)
c.100746T>G (p.Val33582=)
c.100179T>G (p.Val33393=)
c.97521T>G (p.Val32507=)
c.97440T>G (p.Val32480=)
c.79203T>G (p.Val26401=)
c.69057T>G (p.Val23019=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178530307A>GCA430235108TTN,TTN-AS1c.98604T>C (p.Val32868=)
c.79689T>C (p.Val26563=)
c.79488T>C (p.Val26496=)
c.79113T>C (p.Val26371=)
c.106308T>C (p.Val35436=)
c.101385T>C (p.Val33795=)
n.446+6671A>G
n.220-5425A>G
c.105405T>C (p.Val35135=)
c.79299T>C (p.Val26433=)
c.79158T>C (p.Val26386=)
c.105201T>C (p.Val35067=)
c.100599T>C (p.Val33533=)
c.100596T>C (p.Val33532=)
c.97638T>C (p.Val32546=)
c.79254T>C (p.Val26418=)
c.100749T>C (p.Val33583=)
c.100746T>C (p.Val33582=)
c.100179T>C (p.Val33393=)
c.97521T>C (p.Val32507=)
c.97440T>C (p.Val32480=)
c.79203T>C (p.Val26401=)
c.69057T>C (p.Val23019=)
2g.178530307A>TCA430235109TTN,TTN-AS1c.98604T>A (p.Val32868=)
c.79689T>A (p.Val26563=)
c.79488T>A (p.Val26496=)
c.79113T>A (p.Val26371=)
c.106308T>A (p.Val35436=)
c.101385T>A (p.Val33795=)
n.446+6671A>T
n.220-5425A>T
c.105405T>A (p.Val35135=)
c.79299T>A (p.Val26433=)
c.79158T>A (p.Val26386=)
c.105201T>A (p.Val35067=)
c.100599T>A (p.Val33533=)
c.100596T>A (p.Val33532=)
c.97638T>A (p.Val32546=)
c.79254T>A (p.Val26418=)
c.100749T>A (p.Val33583=)
c.100746T>A (p.Val33582=)
c.100179T>A (p.Val33393=)
c.97521T>A (p.Val32507=)
c.97440T>A (p.Val32480=)
c.79203T>A (p.Val26401=)
c.69057T>A (p.Val23019=)
 ClinVar dbSNP
2g.178530308A>CCA349406196TTN,TTN-AS1c.98603T>G (p.Val32868Gly)
c.79688T>G (p.Val26563Gly)
c.79487T>G (p.Val26496Gly)
c.79112T>G (p.Val26371Gly)
c.106307T>G (p.Val35436Gly)
c.101384T>G (p.Val33795Gly)
n.446+6672A>C
n.220-5424A>C
c.105404T>G (p.Val35135Gly)
c.79298T>G (p.Val26433Gly)
c.79157T>G (p.Val26386Gly)
c.105200T>G (p.Val35067Gly)
c.100598T>G (p.Val33533Gly)
c.100595T>G (p.Val33532Gly)
c.97637T>G (p.Val32546Gly)
c.79253T>G (p.Val26418Gly)
c.100748T>G (p.Val33583Gly)
c.100745T>G (p.Val33582Gly)
c.100178T>G (p.Val33393Gly)
c.97520T>G (p.Val32507Gly)
c.97439T>G (p.Val32480Gly)
c.79202T>G (p.Val26401Gly)
c.69056T>G (p.Val23019Gly)
2g.178530308A>GCA349406202TTN,TTN-AS1c.98603T>C (p.Val32868Ala)
c.79688T>C (p.Val26563Ala)
c.79487T>C (p.Val26496Ala)
c.79112T>C (p.Val26371Ala)
c.106307T>C (p.Val35436Ala)
c.101384T>C (p.Val33795Ala)
n.446+6672A>G
n.220-5424A>G
c.105404T>C (p.Val35135Ala)
c.79298T>C (p.Val26433Ala)
c.79157T>C (p.Val26386Ala)
c.105200T>C (p.Val35067Ala)
c.100598T>C (p.Val33533Ala)
c.100595T>C (p.Val33532Ala)
c.97637T>C (p.Val32546Ala)
c.79253T>C (p.Val26418Ala)
c.100748T>C (p.Val33583Ala)
c.100745T>C (p.Val33582Ala)
c.100178T>C (p.Val33393Ala)
c.97520T>C (p.Val32507Ala)
c.97439T>C (p.Val32480Ala)
c.79202T>C (p.Val26401Ala)
c.69056T>C (p.Val23019Ala)
2g.178530308A>TCA349406199TTN,TTN-AS1c.98603T>A (p.Val32868Asp)
c.79688T>A (p.Val26563Asp)
c.79487T>A (p.Val26496Asp)
c.79112T>A (p.Val26371Asp)
c.106307T>A (p.Val35436Asp)
c.101384T>A (p.Val33795Asp)
n.446+6672A>T
n.220-5424A>T
c.105404T>A (p.Val35135Asp)
c.79298T>A (p.Val26433Asp)
c.79157T>A (p.Val26386Asp)
c.105200T>A (p.Val35067Asp)
c.100598T>A (p.Val33533Asp)
c.100595T>A (p.Val33532Asp)
c.97637T>A (p.Val32546Asp)
c.79253T>A (p.Val26418Asp)
c.100748T>A (p.Val33583Asp)
c.100745T>A (p.Val33582Asp)
c.100178T>A (p.Val33393Asp)
c.97520T>A (p.Val32507Asp)
c.97439T>A (p.Val32480Asp)
c.79202T>A (p.Val26401Asp)
c.69056T>A (p.Val23019Asp)
2g.178530309C>ACA60953278TTN,TTN-AS1c.98602G>T (p.Val32868Phe)
c.79687G>T (p.Val26563Phe)
c.79486G>T (p.Val26496Phe)
c.79111G>T (p.Val26371Phe)
c.106306G>T (p.Val35436Phe)
c.101383G>T (p.Val33795Phe)
n.446+6673C>A
n.220-5423C>A
c.105403G>T (p.Val35135Phe)
c.79297G>T (p.Val26433Phe)
c.79156G>T (p.Val26386Phe)
c.105199G>T (p.Val35067Phe)
c.100597G>T (p.Val33533Phe)
c.100594G>T (p.Val33532Phe)
c.97636G>T (p.Val32546Phe)
c.79252G>T (p.Val26418Phe)
c.100747G>T (p.Val33583Phe)
c.100744G>T (p.Val33582Phe)
c.100177G>T (p.Val33393Phe)
c.97519G>T (p.Val32507Phe)
c.97438G>T (p.Val32480Phe)
c.79201G>T (p.Val26401Phe)
c.69055G>T (p.Val23019Phe)
 dbSNP
2g.178530309C=CA1310514505TTN,TTN-AS1c.98602G= (p.Val32868=)
c.79687G= (p.Val26563=)
c.79486G= (p.Val26496=)
c.79111G= (p.Val26371=)
c.106306G= (p.Val35436=)
c.101383G= (p.Val33795=)
n.446+6673C=
n.220-5423C=
c.105403G= (p.Val35135=)
c.79297G= (p.Val26433=)
c.79156G= (p.Val26386=)
c.105199G= (p.Val35067=)
c.100597G= (p.Val33533=)
c.100594G= (p.Val33532=)
c.97636G= (p.Val32546=)
c.79252G= (p.Val26418=)
c.100747G= (p.Val33583=)
c.100744G= (p.Val33582=)
c.100177G= (p.Val33393=)
c.97519G= (p.Val32507=)
c.97438G= (p.Val32480=)
c.79201G= (p.Val26401=)
c.69055G= (p.Val23019=)
2g.178530309C>GCA349406207TTN,TTN-AS1c.98602G>C (p.Val32868Leu)
c.79687G>C (p.Val26563Leu)
c.79486G>C (p.Val26496Leu)
c.79111G>C (p.Val26371Leu)
c.106306G>C (p.Val35436Leu)
c.101383G>C (p.Val33795Leu)
n.446+6673C>G
n.220-5423C>G
c.105403G>C (p.Val35135Leu)
c.79297G>C (p.Val26433Leu)
c.79156G>C (p.Val26386Leu)
c.105199G>C (p.Val35067Leu)
c.100597G>C (p.Val33533Leu)
c.100594G>C (p.Val33532Leu)
c.97636G>C (p.Val32546Leu)
c.79252G>C (p.Val26418Leu)
c.100747G>C (p.Val33583Leu)
c.100744G>C (p.Val33582Leu)
c.100177G>C (p.Val33393Leu)
c.97519G>C (p.Val32507Leu)
c.97438G>C (p.Val32480Leu)
c.79201G>C (p.Val26401Leu)
c.69055G>C (p.Val23019Leu)
2g.178530309C>TCA349406208TTN,TTN-AS1c.98602G>A (p.Val32868Ile)
c.79687G>A (p.Val26563Ile)
c.79486G>A (p.Val26496Ile)
c.79111G>A (p.Val26371Ile)
c.106306G>A (p.Val35436Ile)
c.101383G>A (p.Val33795Ile)
n.446+6673C>T
n.220-5423C>T
c.105403G>A (p.Val35135Ile)
c.79297G>A (p.Val26433Ile)
c.79156G>A (p.Val26386Ile)
c.105199G>A (p.Val35067Ile)
c.100597G>A (p.Val33533Ile)
c.100594G>A (p.Val33532Ile)
c.97636G>A (p.Val32546Ile)
c.79252G>A (p.Val26418Ile)
c.100747G>A (p.Val33583Ile)
c.100744G>A (p.Val33582Ile)
c.100177G>A (p.Val33393Ile)
c.97519G>A (p.Val32507Ile)
c.97438G>A (p.Val32480Ile)
c.79201G>A (p.Val26401Ile)
c.69055G>A (p.Val23019Ile)
2g.178530310A=CA1310514506TTN,TTN-AS1c.98601T= (p.Ser32867=)
c.79686T= (p.Ser26562=)
c.79485T= (p.Ser26495=)
c.79110T= (p.Ser26370=)
c.106305T= (p.Ser35435=)
c.101382T= (p.Ser33794=)
n.446+6674A=
n.220-5422A=
c.105402T= (p.Ser35134=)
c.79296T= (p.Ser26432=)
c.79155T= (p.Ser26385=)
c.105198T= (p.Ser35066=)
c.100596T= (p.Ser33532=)
c.100593T= (p.Ser33531=)
c.97635T= (p.Ser32545=)
c.79251T= (p.Ser26417=)
c.100746T= (p.Ser33582=)
c.100743T= (p.Ser33581=)
c.100176T= (p.Ser33392=)
c.97518T= (p.Ser32506=)
c.97437T= (p.Ser32479=)
c.79200T= (p.Ser26400=)
c.69054T= (p.Ser23018=)
2g.178530310A>CCA349406210TTN,TTN-AS1c.98601T>G (p.Ser32867Arg)
c.79686T>G (p.Ser26562Arg)
c.79485T>G (p.Ser26495Arg)
c.79110T>G (p.Ser26370Arg)
c.106305T>G (p.Ser35435Arg)
c.101382T>G (p.Ser33794Arg)
n.446+6674A>C
n.220-5422A>C
c.105402T>G (p.Ser35134Arg)
c.79296T>G (p.Ser26432Arg)
c.79155T>G (p.Ser26385Arg)
c.105198T>G (p.Ser35066Arg)
c.100596T>G (p.Ser33532Arg)
c.100593T>G (p.Ser33531Arg)
c.97635T>G (p.Ser32545Arg)
c.79251T>G (p.Ser26417Arg)
c.100746T>G (p.Ser33582Arg)
c.100743T>G (p.Ser33581Arg)
c.100176T>G (p.Ser33392Arg)
c.97518T>G (p.Ser32506Arg)
c.97437T>G (p.Ser32479Arg)
c.79200T>G (p.Ser26400Arg)
c.69054T>G (p.Ser23018Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.178530310A>GCA430235114TTN,TTN-AS1c.98601T>C (p.Ser32867=)
c.79686T>C (p.Ser26562=)
c.79485T>C (p.Ser26495=)
c.79110T>C (p.Ser26370=)
c.106305T>C (p.Ser35435=)
c.101382T>C (p.Ser33794=)
n.446+6674A>G
n.220-5422A>G
c.105402T>C (p.Ser35134=)
c.79296T>C (p.Ser26432=)
c.79155T>C (p.Ser26385=)
c.105198T>C (p.Ser35066=)
c.100596T>C (p.Ser33532=)
c.100593T>C (p.Ser33531=)
c.97635T>C (p.Ser32545=)
c.79251T>C (p.Ser26417=)
c.100746T>C (p.Ser33582=)
c.100743T>C (p.Ser33581=)
c.100176T>C (p.Ser33392=)
c.97518T>C (p.Ser32506=)
c.97437T>C (p.Ser32479=)
c.79200T>C (p.Ser26400=)
c.69054T>C (p.Ser23018=)
2g.178530310A>TCA349406213TTN,TTN-AS1c.98601T>A (p.Ser32867Arg)
c.79686T>A (p.Ser26562Arg)
c.79485T>A (p.Ser26495Arg)
c.79110T>A (p.Ser26370Arg)
c.106305T>A (p.Ser35435Arg)
c.101382T>A (p.Ser33794Arg)
n.446+6674A>T
n.220-5422A>T
c.105402T>A (p.Ser35134Arg)
c.79296T>A (p.Ser26432Arg)
c.79155T>A (p.Ser26385Arg)
c.105198T>A (p.Ser35066Arg)
c.100596T>A (p.Ser33532Arg)
c.100593T>A (p.Ser33531Arg)
c.97635T>A (p.Ser32545Arg)
c.79251T>A (p.Ser26417Arg)
c.100746T>A (p.Ser33582Arg)
c.100743T>A (p.Ser33581Arg)
c.100176T>A (p.Ser33392Arg)
c.97518T>A (p.Ser32506Arg)
c.97437T>A (p.Ser32479Arg)
c.79200T>A (p.Ser26400Arg)
c.69054T>A (p.Ser23018Arg)
2g.178530311C>ACA349406214TTN,TTN-AS1c.98600G>T (p.Ser32867Ile)
c.79685G>T (p.Ser26562Ile)
c.79484G>T (p.Ser26495Ile)
c.79109G>T (p.Ser26370Ile)
c.106304G>T (p.Ser35435Ile)
c.101381G>T (p.Ser33794Ile)
n.446+6675C>A
n.220-5421C>A
c.105401G>T (p.Ser35134Ile)
c.79295G>T (p.Ser26432Ile)
c.79154G>T (p.Ser26385Ile)
c.105197G>T (p.Ser35066Ile)
c.100595G>T (p.Ser33532Ile)
c.100592G>T (p.Ser33531Ile)
c.97634G>T (p.Ser32545Ile)
c.79250G>T (p.Ser26417Ile)
c.100745G>T (p.Ser33582Ile)
c.100742G>T (p.Ser33581Ile)
c.100175G>T (p.Ser33392Ile)
c.97517G>T (p.Ser32506Ile)
c.97436G>T (p.Ser32479Ile)
c.79199G>T (p.Ser26400Ile)
c.69053G>T (p.Ser23018Ile)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched