Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178569315A=CA1310530329TTN,TTN-AS1c.69113T= (p.Val23038=)
c.50198T= (p.Val16733=)
c.49997T= (p.Val16666=)
c.49622T= (p.Val16541=)
c.76817T= (p.Val25606=)
c.71894T= (p.Val23965=)
n.447-1985A=
n.2044-13257A=
c.75914T= (p.Val25305=)
c.49808T= (p.Val16603=)
c.49667T= (p.Val16556=)
c.75710T= (p.Val25237=)
c.71108T= (p.Val23703=)
c.71105T= (p.Val23702=)
c.68147T= (p.Val22716=)
c.49763T= (p.Val16588=)
c.71258T= (p.Val23753=)
c.71255T= (p.Val23752=)
c.70688T= (p.Val23563=)
c.68030T= (p.Val22677=)
c.67949T= (p.Val22650=)
c.49712T= (p.Val16571=)
c.39566T= (p.Val13189=)
2g.178569315A>CCA349613778TTN,TTN-AS1c.69113T>G (p.Val23038Gly)
c.50198T>G (p.Val16733Gly)
c.49997T>G (p.Val16666Gly)
c.49622T>G (p.Val16541Gly)
c.76817T>G (p.Val25606Gly)
c.71894T>G (p.Val23965Gly)
n.447-1985A>C
n.2044-13257A>C
c.75914T>G (p.Val25305Gly)
c.49808T>G (p.Val16603Gly)
c.49667T>G (p.Val16556Gly)
c.75710T>G (p.Val25237Gly)
c.71108T>G (p.Val23703Gly)
c.71105T>G (p.Val23702Gly)
c.68147T>G (p.Val22716Gly)
c.49763T>G (p.Val16588Gly)
c.71258T>G (p.Val23753Gly)
c.71255T>G (p.Val23752Gly)
c.70688T>G (p.Val23563Gly)
c.68030T>G (p.Val22677Gly)
c.67949T>G (p.Val22650Gly)
c.49712T>G (p.Val16571Gly)
c.39566T>G (p.Val13189Gly)
2g.178569315A>GCA349613779TTN,TTN-AS1c.69113T>C (p.Val23038Ala)
c.50198T>C (p.Val16733Ala)
c.49997T>C (p.Val16666Ala)
c.49622T>C (p.Val16541Ala)
c.76817T>C (p.Val25606Ala)
c.71894T>C (p.Val23965Ala)
n.447-1985A>G
n.2044-13257A>G
c.75914T>C (p.Val25305Ala)
c.49808T>C (p.Val16603Ala)
c.49667T>C (p.Val16556Ala)
c.75710T>C (p.Val25237Ala)
c.71108T>C (p.Val23703Ala)
c.71105T>C (p.Val23702Ala)
c.68147T>C (p.Val22716Ala)
c.49763T>C (p.Val16588Ala)
c.71258T>C (p.Val23753Ala)
c.71255T>C (p.Val23752Ala)
c.70688T>C (p.Val23563Ala)
c.68030T>C (p.Val22677Ala)
c.67949T>C (p.Val22650Ala)
c.49712T>C (p.Val16571Ala)
c.39566T>C (p.Val13189Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.178569315A>TCA349613780TTN,TTN-AS1c.69113T>A (p.Val23038Asp)
c.50198T>A (p.Val16733Asp)
c.49997T>A (p.Val16666Asp)
c.49622T>A (p.Val16541Asp)
c.76817T>A (p.Val25606Asp)
c.71894T>A (p.Val23965Asp)
n.447-1985A>T
n.2044-13257A>T
c.75914T>A (p.Val25305Asp)
c.49808T>A (p.Val16603Asp)
c.49667T>A (p.Val16556Asp)
c.75710T>A (p.Val25237Asp)
c.71108T>A (p.Val23703Asp)
c.71105T>A (p.Val23702Asp)
c.68147T>A (p.Val22716Asp)
c.49763T>A (p.Val16588Asp)
c.71258T>A (p.Val23753Asp)
c.71255T>A (p.Val23752Asp)
c.70688T>A (p.Val23563Asp)
c.68030T>A (p.Val22677Asp)
c.67949T>A (p.Val22650Asp)
c.49712T>A (p.Val16571Asp)
c.39566T>A (p.Val13189Asp)
2g.178569316C>ACA349613782TTN,TTN-AS1c.69112G>T (p.Val23038Phe)
c.50197G>T (p.Val16733Phe)
c.49996G>T (p.Val16666Phe)
c.49621G>T (p.Val16541Phe)
c.76816G>T (p.Val25606Phe)
c.71893G>T (p.Val23965Phe)
n.447-1984C>A
n.2044-13256C>A
c.75913G>T (p.Val25305Phe)
c.49807G>T (p.Val16603Phe)
c.49666G>T (p.Val16556Phe)
c.75709G>T (p.Val25237Phe)
c.71107G>T (p.Val23703Phe)
c.71104G>T (p.Val23702Phe)
c.68146G>T (p.Val22716Phe)
c.49762G>T (p.Val16588Phe)
c.71257G>T (p.Val23753Phe)
c.71254G>T (p.Val23752Phe)
c.70687G>T (p.Val23563Phe)
c.68029G>T (p.Val22677Phe)
c.67948G>T (p.Val22650Phe)
c.49711G>T (p.Val16571Phe)
c.39565G>T (p.Val13189Phe)
2g.178569316C=CA1310530330TTN,TTN-AS1c.69112G= (p.Val23038=)
c.50197G= (p.Val16733=)
c.49996G= (p.Val16666=)
c.49621G= (p.Val16541=)
c.76816G= (p.Val25606=)
c.71893G= (p.Val23965=)
n.447-1984C=
n.2044-13256C=
c.75913G= (p.Val25305=)
c.49807G= (p.Val16603=)
c.49666G= (p.Val16556=)
c.75709G= (p.Val25237=)
c.71107G= (p.Val23703=)
c.71104G= (p.Val23702=)
c.68146G= (p.Val22716=)
c.49762G= (p.Val16588=)
c.71257G= (p.Val23753=)
c.71254G= (p.Val23752=)
c.70687G= (p.Val23563=)
c.68029G= (p.Val22677=)
c.67948G= (p.Val22650=)
c.49711G= (p.Val16571=)
c.39565G= (p.Val13189=)
2g.178569316C>GCA349613785TTN,TTN-AS1c.69112G>C (p.Val23038Leu)
c.50197G>C (p.Val16733Leu)
c.49996G>C (p.Val16666Leu)
c.49621G>C (p.Val16541Leu)
c.76816G>C (p.Val25606Leu)
c.71893G>C (p.Val23965Leu)
n.447-1984C>G
n.2044-13256C>G
c.75913G>C (p.Val25305Leu)
c.49807G>C (p.Val16603Leu)
c.49666G>C (p.Val16556Leu)
c.75709G>C (p.Val25237Leu)
c.71107G>C (p.Val23703Leu)
c.71104G>C (p.Val23702Leu)
c.68146G>C (p.Val22716Leu)
c.49762G>C (p.Val16588Leu)
c.71257G>C (p.Val23753Leu)
c.71254G>C (p.Val23752Leu)
c.70687G>C (p.Val23563Leu)
c.68029G>C (p.Val22677Leu)
c.67948G>C (p.Val22650Leu)
c.49711G>C (p.Val16571Leu)
c.39565G>C (p.Val13189Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178569316C>TCA310551TTN,TTN-AS1c.69112G>A (p.Val23038Ile)
c.50197G>A (p.Val16733Ile)
c.49996G>A (p.Val16666Ile)
c.49621G>A (p.Val16541Ile)
c.76816G>A (p.Val25606Ile)
c.71893G>A (p.Val23965Ile)
n.447-1984C>T
n.2044-13256C>T
c.75913G>A (p.Val25305Ile)
c.49807G>A (p.Val16603Ile)
c.49666G>A (p.Val16556Ile)
c.75709G>A (p.Val25237Ile)
c.71107G>A (p.Val23703Ile)
c.71104G>A (p.Val23702Ile)
c.68146G>A (p.Val22716Ile)
c.49762G>A (p.Val16588Ile)
c.71257G>A (p.Val23753Ile)
c.71254G>A (p.Val23752Ile)
c.70687G>A (p.Val23563Ile)
c.68029G>A (p.Val22677Ile)
c.67948G>A (p.Val22650Ile)
c.49711G>A (p.Val16571Ile)
c.39565G>A (p.Val13189Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178569317A>CCA430254169TTN,TTN-AS1c.69111T>G (p.Pro23037=)
c.50196T>G (p.Pro16732=)
c.49995T>G (p.Pro16665=)
c.49620T>G (p.Pro16540=)
c.76815T>G (p.Pro25605=)
c.71892T>G (p.Pro23964=)
n.447-1983A>C
n.2044-13255A>C
c.75912T>G (p.Pro25304=)
c.49806T>G (p.Pro16602=)
c.49665T>G (p.Pro16555=)
c.75708T>G (p.Pro25236=)
c.71106T>G (p.Pro23702=)
c.71103T>G (p.Pro23701=)
c.68145T>G (p.Pro22715=)
c.49761T>G (p.Pro16587=)
c.71256T>G (p.Pro23752=)
c.71253T>G (p.Pro23751=)
c.70686T>G (p.Pro23562=)
c.68028T>G (p.Pro22676=)
c.67947T>G (p.Pro22649=)
c.49710T>G (p.Pro16570=)
c.39564T>G (p.Pro13188=)
2g.178569317A>GCA430254167TTN,TTN-AS1c.69111T>C (p.Pro23037=)
c.50196T>C (p.Pro16732=)
c.49995T>C (p.Pro16665=)
c.49620T>C (p.Pro16540=)
c.76815T>C (p.Pro25605=)
c.71892T>C (p.Pro23964=)
n.447-1983A>G
n.2044-13255A>G
c.75912T>C (p.Pro25304=)
c.49806T>C (p.Pro16602=)
c.49665T>C (p.Pro16555=)
c.75708T>C (p.Pro25236=)
c.71106T>C (p.Pro23702=)
c.71103T>C (p.Pro23701=)
c.68145T>C (p.Pro22715=)
c.49761T>C (p.Pro16587=)
c.71256T>C (p.Pro23752=)
c.71253T>C (p.Pro23751=)
c.70686T>C (p.Pro23562=)
c.68028T>C (p.Pro22676=)
c.67947T>C (p.Pro22649=)
c.49710T>C (p.Pro16570=)
c.39564T>C (p.Pro13188=)
 gnomAD v4
2g.178569317A>TCA430254168TTN,TTN-AS1c.69111T>A (p.Pro23037=)
c.50196T>A (p.Pro16732=)
c.49995T>A (p.Pro16665=)
c.49620T>A (p.Pro16540=)
c.76815T>A (p.Pro25605=)
c.71892T>A (p.Pro23964=)
n.447-1983A>T
n.2044-13255A>T
c.75912T>A (p.Pro25304=)
c.49806T>A (p.Pro16602=)
c.49665T>A (p.Pro16555=)
c.75708T>A (p.Pro25236=)
c.71106T>A (p.Pro23702=)
c.71103T>A (p.Pro23701=)
c.68145T>A (p.Pro22715=)
c.49761T>A (p.Pro16587=)
c.71256T>A (p.Pro23752=)
c.71253T>A (p.Pro23751=)
c.70686T>A (p.Pro23562=)
c.68028T>A (p.Pro22676=)
c.67947T>A (p.Pro22649=)
c.49710T>A (p.Pro16570=)
c.39564T>A (p.Pro13188=)
2g.178569318G>ACA349613787TTN,TTN-AS1c.69110C>T (p.Pro23037Leu)
c.50195C>T (p.Pro16732Leu)
c.49994C>T (p.Pro16665Leu)
c.49619C>T (p.Pro16540Leu)
c.76814C>T (p.Pro25605Leu)
c.71891C>T (p.Pro23964Leu)
n.447-1982G>A
n.2044-13254G>A
c.75911C>T (p.Pro25304Leu)
c.49805C>T (p.Pro16602Leu)
c.49664C>T (p.Pro16555Leu)
c.75707C>T (p.Pro25236Leu)
c.71105C>T (p.Pro23702Leu)
c.71102C>T (p.Pro23701Leu)
c.68144C>T (p.Pro22715Leu)
c.49760C>T (p.Pro16587Leu)
c.71255C>T (p.Pro23752Leu)
c.71252C>T (p.Pro23751Leu)
c.70685C>T (p.Pro23562Leu)
c.68027C>T (p.Pro22676Leu)
c.67946C>T (p.Pro22649Leu)
c.49709C>T (p.Pro16570Leu)
c.39563C>T (p.Pro13188Leu)
2g.178569318G>CCA349613789TTN,TTN-AS1c.69110C>G (p.Pro23037Arg)
c.50195C>G (p.Pro16732Arg)
c.49994C>G (p.Pro16665Arg)
c.49619C>G (p.Pro16540Arg)
c.76814C>G (p.Pro25605Arg)
c.71891C>G (p.Pro23964Arg)
n.447-1982G>C
n.2044-13254G>C
c.75911C>G (p.Pro25304Arg)
c.49805C>G (p.Pro16602Arg)
c.49664C>G (p.Pro16555Arg)
c.75707C>G (p.Pro25236Arg)
c.71105C>G (p.Pro23702Arg)
c.71102C>G (p.Pro23701Arg)
c.68144C>G (p.Pro22715Arg)
c.49760C>G (p.Pro16587Arg)
c.71255C>G (p.Pro23752Arg)
c.71252C>G (p.Pro23751Arg)
c.70685C>G (p.Pro23562Arg)
c.68027C>G (p.Pro22676Arg)
c.67946C>G (p.Pro22649Arg)
c.49709C>G (p.Pro16570Arg)
c.39563C>G (p.Pro13188Arg)
2g.178569318G=CA1310530333TTN,TTN-AS1c.69110C= (p.Pro23037=)
c.50195C= (p.Pro16732=)
c.49994C= (p.Pro16665=)
c.49619C= (p.Pro16540=)
c.76814C= (p.Pro25605=)
c.71891C= (p.Pro23964=)
n.447-1982G=
n.2044-13254G=
c.75911C= (p.Pro25304=)
c.49805C= (p.Pro16602=)
c.49664C= (p.Pro16555=)
c.75707C= (p.Pro25236=)
c.71105C= (p.Pro23702=)
c.71102C= (p.Pro23701=)
c.68144C= (p.Pro22715=)
c.49760C= (p.Pro16587=)
c.71255C= (p.Pro23752=)
c.71252C= (p.Pro23751=)
c.70685C= (p.Pro23562=)
c.68027C= (p.Pro22676=)
c.67946C= (p.Pro22649=)
c.49709C= (p.Pro16570=)
c.39563C= (p.Pro13188=)
2g.178569318G>TCA349613791TTN,TTN-AS1c.69110C>A (p.Pro23037His)
c.50195C>A (p.Pro16732His)
c.49994C>A (p.Pro16665His)
c.49619C>A (p.Pro16540His)
c.76814C>A (p.Pro25605His)
c.71891C>A (p.Pro23964His)
n.447-1982G>T
n.2044-13254G>T
c.75911C>A (p.Pro25304His)
c.49805C>A (p.Pro16602His)
c.49664C>A (p.Pro16555His)
c.75707C>A (p.Pro25236His)
c.71105C>A (p.Pro23702His)
c.71102C>A (p.Pro23701His)
c.68144C>A (p.Pro22715His)
c.49760C>A (p.Pro16587His)
c.71255C>A (p.Pro23752His)
c.71252C>A (p.Pro23751His)
c.70685C>A (p.Pro23562His)
c.68027C>A (p.Pro22676His)
c.67946C>A (p.Pro22649His)
c.49709C>A (p.Pro16570His)
c.39563C>A (p.Pro13188His)
 dbSNP COSMIC COSMIC COSMIC COSMIC
2g.178569319G>ACA349613793TTN,TTN-AS1c.69109C>T (p.Pro23037Ser)
c.50194C>T (p.Pro16732Ser)
c.49993C>T (p.Pro16665Ser)
c.49618C>T (p.Pro16540Ser)
c.76813C>T (p.Pro25605Ser)
c.71890C>T (p.Pro23964Ser)
n.447-1981G>A
n.2044-13253G>A
c.75910C>T (p.Pro25304Ser)
c.49804C>T (p.Pro16602Ser)
c.49663C>T (p.Pro16555Ser)
c.75706C>T (p.Pro25236Ser)
c.71104C>T (p.Pro23702Ser)
c.71101C>T (p.Pro23701Ser)
c.68143C>T (p.Pro22715Ser)
c.49759C>T (p.Pro16587Ser)
c.71254C>T (p.Pro23752Ser)
c.71251C>T (p.Pro23751Ser)
c.70684C>T (p.Pro23562Ser)
c.68026C>T (p.Pro22676Ser)
c.67945C>T (p.Pro22649Ser)
c.49708C>T (p.Pro16570Ser)
c.39562C>T (p.Pro13188Ser)
2g.178569319G>CCA349613795TTN,TTN-AS1c.69109C>G (p.Pro23037Ala)
c.50194C>G (p.Pro16732Ala)
c.49993C>G (p.Pro16665Ala)
c.49618C>G (p.Pro16540Ala)
c.76813C>G (p.Pro25605Ala)
c.71890C>G (p.Pro23964Ala)
n.447-1981G>C
n.2044-13253G>C
c.75910C>G (p.Pro25304Ala)
c.49804C>G (p.Pro16602Ala)
c.49663C>G (p.Pro16555Ala)
c.75706C>G (p.Pro25236Ala)
c.71104C>G (p.Pro23702Ala)
c.71101C>G (p.Pro23701Ala)
c.68143C>G (p.Pro22715Ala)
c.49759C>G (p.Pro16587Ala)
c.71254C>G (p.Pro23752Ala)
c.71251C>G (p.Pro23751Ala)
c.70684C>G (p.Pro23562Ala)
c.68026C>G (p.Pro22676Ala)
c.67945C>G (p.Pro22649Ala)
c.49708C>G (p.Pro16570Ala)
c.39562C>G (p.Pro13188Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178569319G=CA1310530335TTN,TTN-AS1c.69109C= (p.Pro23037=)
c.50194C= (p.Pro16732=)
c.49993C= (p.Pro16665=)
c.49618C= (p.Pro16540=)
c.76813C= (p.Pro25605=)
c.71890C= (p.Pro23964=)
n.447-1981G=
n.2044-13253G=
c.75910C= (p.Pro25304=)
c.49804C= (p.Pro16602=)
c.49663C= (p.Pro16555=)
c.75706C= (p.Pro25236=)
c.71104C= (p.Pro23702=)
c.71101C= (p.Pro23701=)
c.68143C= (p.Pro22715=)
c.49759C= (p.Pro16587=)
c.71254C= (p.Pro23752=)
c.71251C= (p.Pro23751=)
c.70684C= (p.Pro23562=)
c.68026C= (p.Pro22676=)
c.67945C= (p.Pro22649=)
c.49708C= (p.Pro16570=)
c.39562C= (p.Pro13188=)
2g.178569319G>TCA349613796TTN,TTN-AS1c.69109C>A (p.Pro23037Thr)
c.50194C>A (p.Pro16732Thr)
c.49993C>A (p.Pro16665Thr)
c.49618C>A (p.Pro16540Thr)
c.76813C>A (p.Pro25605Thr)
c.71890C>A (p.Pro23964Thr)
n.447-1981G>T
n.2044-13253G>T
c.75910C>A (p.Pro25304Thr)
c.49804C>A (p.Pro16602Thr)
c.49663C>A (p.Pro16555Thr)
c.75706C>A (p.Pro25236Thr)
c.71104C>A (p.Pro23702Thr)
c.71101C>A (p.Pro23701Thr)
c.68143C>A (p.Pro22715Thr)
c.49759C>A (p.Pro16587Thr)
c.71254C>A (p.Pro23752Thr)
c.71251C>A (p.Pro23751Thr)
c.70684C>A (p.Pro23562Thr)
c.68026C>A (p.Pro22676Thr)
c.67945C>A (p.Pro22649Thr)
c.49708C>A (p.Pro16570Thr)
c.39562C>A (p.Pro13188Thr)
2g.178569320T>ACA430254177TTN,TTN-AS1c.69108A>T (p.Pro23036=)
c.50193A>T (p.Pro16731=)
c.49992A>T (p.Pro16664=)
c.49617A>T (p.Pro16539=)
c.76812A>T (p.Pro25604=)
c.71889A>T (p.Pro23963=)
n.447-1980T>A
n.2044-13252T>A
c.75909A>T (p.Pro25303=)
c.49803A>T (p.Pro16601=)
c.49662A>T (p.Pro16554=)
c.75705A>T (p.Pro25235=)
c.71103A>T (p.Pro23701=)
c.71100A>T (p.Pro23700=)
c.68142A>T (p.Pro22714=)
c.49758A>T (p.Pro16586=)
c.71253A>T (p.Pro23751=)
c.71250A>T (p.Pro23750=)
c.70683A>T (p.Pro23561=)
c.68025A>T (p.Pro22675=)
c.67944A>T (p.Pro22648=)
c.49707A>T (p.Pro16569=)
c.39561A>T (p.Pro13187=)
2g.178569320T>CCA430254178TTN,TTN-AS1c.69108A>G (p.Pro23036=)
c.50193A>G (p.Pro16731=)
c.49992A>G (p.Pro16664=)
c.49617A>G (p.Pro16539=)
c.76812A>G (p.Pro25604=)
c.71889A>G (p.Pro23963=)
n.447-1980T>C
n.2044-13252T>C
c.75909A>G (p.Pro25303=)
c.49803A>G (p.Pro16601=)
c.49662A>G (p.Pro16554=)
c.75705A>G (p.Pro25235=)
c.71103A>G (p.Pro23701=)
c.71100A>G (p.Pro23700=)
c.68142A>G (p.Pro22714=)
c.49758A>G (p.Pro16586=)
c.71253A>G (p.Pro23751=)
c.71250A>G (p.Pro23750=)
c.70683A>G (p.Pro23561=)
c.68025A>G (p.Pro22675=)
c.67944A>G (p.Pro22648=)
c.49707A>G (p.Pro16569=)
c.39561A>G (p.Pro13187=)
 dbSNP gnomAD v2 gnomAD v4
2g.178569320T>GCA430254180TTN,TTN-AS1c.69108A>C (p.Pro23036=)
c.50193A>C (p.Pro16731=)
c.49992A>C (p.Pro16664=)
c.49617A>C (p.Pro16539=)
c.76812A>C (p.Pro25604=)
c.71889A>C (p.Pro23963=)
n.447-1980T>G
n.2044-13252T>G
c.75909A>C (p.Pro25303=)
c.49803A>C (p.Pro16601=)
c.49662A>C (p.Pro16554=)
c.75705A>C (p.Pro25235=)
c.71103A>C (p.Pro23701=)
c.71100A>C (p.Pro23700=)
c.68142A>C (p.Pro22714=)
c.49758A>C (p.Pro16586=)
c.71253A>C (p.Pro23751=)
c.71250A>C (p.Pro23750=)
c.70683A>C (p.Pro23561=)
c.68025A>C (p.Pro22675=)
c.67944A>C (p.Pro22648=)
c.49707A>C (p.Pro16569=)
c.39561A>C (p.Pro13187=)
2g.178569320T=CA1310530337TTN,TTN-AS1c.69108A= (p.Pro23036=)
c.50193A= (p.Pro16731=)
c.49992A= (p.Pro16664=)
c.49617A= (p.Pro16539=)
c.76812A= (p.Pro25604=)
c.71889A= (p.Pro23963=)
n.447-1980T=
n.2044-13252T=
c.75909A= (p.Pro25303=)
c.49803A= (p.Pro16601=)
c.49662A= (p.Pro16554=)
c.75705A= (p.Pro25235=)
c.71103A= (p.Pro23701=)
c.71100A= (p.Pro23700=)
c.68142A= (p.Pro22714=)
c.49758A= (p.Pro16586=)
c.71253A= (p.Pro23751=)
c.71250A= (p.Pro23750=)
c.70683A= (p.Pro23561=)
c.68025A= (p.Pro22675=)
c.67944A= (p.Pro22648=)
c.49707A= (p.Pro16569=)
c.39561A= (p.Pro13187=)
2g.178569321G>ACA349613797TTN,TTN-AS1c.69107C>T (p.Pro23036Leu)
c.50192C>T (p.Pro16731Leu)
c.49991C>T (p.Pro16664Leu)
c.49616C>T (p.Pro16539Leu)
c.76811C>T (p.Pro25604Leu)
c.71888C>T (p.Pro23963Leu)
n.447-1979G>A
n.2044-13251G>A
c.75908C>T (p.Pro25303Leu)
c.49802C>T (p.Pro16601Leu)
c.49661C>T (p.Pro16554Leu)
c.75704C>T (p.Pro25235Leu)
c.71102C>T (p.Pro23701Leu)
c.71099C>T (p.Pro23700Leu)
c.68141C>T (p.Pro22714Leu)
c.49757C>T (p.Pro16586Leu)
c.71252C>T (p.Pro23751Leu)
c.71249C>T (p.Pro23750Leu)
c.70682C>T (p.Pro23561Leu)
c.68024C>T (p.Pro22675Leu)
c.67943C>T (p.Pro22648Leu)
c.49706C>T (p.Pro16569Leu)
c.39560C>T (p.Pro13187Leu)
 ClinVar dbSNP gnomAD v4
2g.178569321G>CCA349613798TTN,TTN-AS1c.69107C>G (p.Pro23036Arg)
c.50192C>G (p.Pro16731Arg)
c.49991C>G (p.Pro16664Arg)
c.49616C>G (p.Pro16539Arg)
c.76811C>G (p.Pro25604Arg)
c.71888C>G (p.Pro23963Arg)
n.447-1979G>C
n.2044-13251G>C
c.75908C>G (p.Pro25303Arg)
c.49802C>G (p.Pro16601Arg)
c.49661C>G (p.Pro16554Arg)
c.75704C>G (p.Pro25235Arg)
c.71102C>G (p.Pro23701Arg)
c.71099C>G (p.Pro23700Arg)
c.68141C>G (p.Pro22714Arg)
c.49757C>G (p.Pro16586Arg)
c.71252C>G (p.Pro23751Arg)
c.71249C>G (p.Pro23750Arg)
c.70682C>G (p.Pro23561Arg)
c.68024C>G (p.Pro22675Arg)
c.67943C>G (p.Pro22648Arg)
c.49706C>G (p.Pro16569Arg)
c.39560C>G (p.Pro13187Arg)
2g.178569321G=CA1310530339TTN,TTN-AS1c.69107C= (p.Pro23036=)
c.50192C= (p.Pro16731=)
c.49991C= (p.Pro16664=)
c.49616C= (p.Pro16539=)
c.76811C= (p.Pro25604=)
c.71888C= (p.Pro23963=)
n.447-1979G=
n.2044-13251G=
c.75908C= (p.Pro25303=)
c.49802C= (p.Pro16601=)
c.49661C= (p.Pro16554=)
c.75704C= (p.Pro25235=)
c.71102C= (p.Pro23701=)
c.71099C= (p.Pro23700=)
c.68141C= (p.Pro22714=)
c.49757C= (p.Pro16586=)
c.71252C= (p.Pro23751=)
c.71249C= (p.Pro23750=)
c.70682C= (p.Pro23561=)
c.68024C= (p.Pro22675=)
c.67943C= (p.Pro22648=)
c.49706C= (p.Pro16569=)
c.39560C= (p.Pro13187=)
2g.178569321G>TCA349613800TTN,TTN-AS1c.69107C>A (p.Pro23036Gln)
c.50192C>A (p.Pro16731Gln)
c.49991C>A (p.Pro16664Gln)
c.49616C>A (p.Pro16539Gln)
c.76811C>A (p.Pro25604Gln)
c.71888C>A (p.Pro23963Gln)
n.447-1979G>T
n.2044-13251G>T
c.75908C>A (p.Pro25303Gln)
c.49802C>A (p.Pro16601Gln)
c.49661C>A (p.Pro16554Gln)
c.75704C>A (p.Pro25235Gln)
c.71102C>A (p.Pro23701Gln)
c.71099C>A (p.Pro23700Gln)
c.68141C>A (p.Pro22714Gln)
c.49757C>A (p.Pro16586Gln)
c.71252C>A (p.Pro23751Gln)
c.71249C>A (p.Pro23750Gln)
c.70682C>A (p.Pro23561Gln)
c.68024C>A (p.Pro22675Gln)
c.67943C>A (p.Pro22648Gln)
c.49706C>A (p.Pro16569Gln)
c.39560C>A (p.Pro13187Gln)
2g.178569322G>ACA349613803TTN,TTN-AS1c.69106C>T (p.Pro23036Ser)
c.50191C>T (p.Pro16731Ser)
c.49990C>T (p.Pro16664Ser)
c.49615C>T (p.Pro16539Ser)
c.76810C>T (p.Pro25604Ser)
c.71887C>T (p.Pro23963Ser)
n.447-1978G>A
n.2044-13250G>A
c.75907C>T (p.Pro25303Ser)
c.49801C>T (p.Pro16601Ser)
c.49660C>T (p.Pro16554Ser)
c.75703C>T (p.Pro25235Ser)
c.71101C>T (p.Pro23701Ser)
c.71098C>T (p.Pro23700Ser)
c.68140C>T (p.Pro22714Ser)
c.49756C>T (p.Pro16586Ser)
c.71251C>T (p.Pro23751Ser)
c.71248C>T (p.Pro23750Ser)
c.70681C>T (p.Pro23561Ser)
c.68023C>T (p.Pro22675Ser)
c.67942C>T (p.Pro22648Ser)
c.49705C>T (p.Pro16569Ser)
c.39559C>T (p.Pro13187Ser)
 dbSNP
2g.178569322G>CCA349613804TTN,TTN-AS1c.69106C>G (p.Pro23036Ala)
c.50191C>G (p.Pro16731Ala)
c.49990C>G (p.Pro16664Ala)
c.49615C>G (p.Pro16539Ala)
c.76810C>G (p.Pro25604Ala)
c.71887C>G (p.Pro23963Ala)
n.447-1978G>C
n.2044-13250G>C
c.75907C>G (p.Pro25303Ala)
c.49801C>G (p.Pro16601Ala)
c.49660C>G (p.Pro16554Ala)
c.75703C>G (p.Pro25235Ala)
c.71101C>G (p.Pro23701Ala)
c.71098C>G (p.Pro23700Ala)
c.68140C>G (p.Pro22714Ala)
c.49756C>G (p.Pro16586Ala)
c.71251C>G (p.Pro23751Ala)
c.71248C>G (p.Pro23750Ala)
c.70681C>G (p.Pro23561Ala)
c.68023C>G (p.Pro22675Ala)
c.67942C>G (p.Pro22648Ala)
c.49705C>G (p.Pro16569Ala)
c.39559C>G (p.Pro13187Ala)
2g.178569322G>TCA349613806TTN,TTN-AS1c.69106C>A (p.Pro23036Thr)
c.50191C>A (p.Pro16731Thr)
c.49990C>A (p.Pro16664Thr)
c.49615C>A (p.Pro16539Thr)
c.76810C>A (p.Pro25604Thr)
c.71887C>A (p.Pro23963Thr)
n.447-1978G>T
n.2044-13250G>T
c.75907C>A (p.Pro25303Thr)
c.49801C>A (p.Pro16601Thr)
c.49660C>A (p.Pro16554Thr)
c.75703C>A (p.Pro25235Thr)
c.71101C>A (p.Pro23701Thr)
c.71098C>A (p.Pro23700Thr)
c.68140C>A (p.Pro22714Thr)
c.49756C>A (p.Pro16586Thr)
c.71251C>A (p.Pro23751Thr)
c.71248C>A (p.Pro23750Thr)
c.70681C>A (p.Pro23561Thr)
c.68023C>A (p.Pro22675Thr)
c.67942C>A (p.Pro22648Thr)
c.49705C>A (p.Pro16569Thr)
c.39559C>A (p.Pro13187Thr)
2g.178569323A=CA1310530341TTN,TTN-AS1c.69105T= (p.Ser23035=)
c.50190T= (p.Ser16730=)
c.49989T= (p.Ser16663=)
c.49614T= (p.Ser16538=)
c.76809T= (p.Ser25603=)
c.71886T= (p.Ser23962=)
n.447-1977A=
n.2044-13249A=
c.75906T= (p.Ser25302=)
c.49800T= (p.Ser16600=)
c.49659T= (p.Ser16553=)
c.75702T= (p.Ser25234=)
c.71100T= (p.Ser23700=)
c.71097T= (p.Ser23699=)
c.68139T= (p.Ser22713=)
c.49755T= (p.Ser16585=)
c.71250T= (p.Ser23750=)
c.71247T= (p.Ser23749=)
c.70680T= (p.Ser23560=)
c.68022T= (p.Ser22674=)
c.67941T= (p.Ser22647=)
c.49704T= (p.Ser16568=)
c.39558T= (p.Ser13186=)
2g.178569323A>CCA349613813TTN,TTN-AS1c.69105T>G (p.Ser23035Arg)
c.50190T>G (p.Ser16730Arg)
c.49989T>G (p.Ser16663Arg)
c.49614T>G (p.Ser16538Arg)
c.76809T>G (p.Ser25603Arg)
c.71886T>G (p.Ser23962Arg)
n.447-1977A>C
n.2044-13249A>C
c.75906T>G (p.Ser25302Arg)
c.49800T>G (p.Ser16600Arg)
c.49659T>G (p.Ser16553Arg)
c.75702T>G (p.Ser25234Arg)
c.71100T>G (p.Ser23700Arg)
c.71097T>G (p.Ser23699Arg)
c.68139T>G (p.Ser22713Arg)
c.49755T>G (p.Ser16585Arg)
c.71250T>G (p.Ser23750Arg)
c.71247T>G (p.Ser23749Arg)
c.70680T>G (p.Ser23560Arg)
c.68022T>G (p.Ser22674Arg)
c.67941T>G (p.Ser22647Arg)
c.49704T>G (p.Ser16568Arg)
c.39558T>G (p.Ser13186Arg)
2g.178569323A>GCA60993575TTN,TTN-AS1c.69105T>C (p.Ser23035=)
c.50190T>C (p.Ser16730=)
c.49989T>C (p.Ser16663=)
c.49614T>C (p.Ser16538=)
c.76809T>C (p.Ser25603=)
c.71886T>C (p.Ser23962=)
n.447-1977A>G
n.2044-13249A>G
c.75906T>C (p.Ser25302=)
c.49800T>C (p.Ser16600=)
c.49659T>C (p.Ser16553=)
c.75702T>C (p.Ser25234=)
c.71100T>C (p.Ser23700=)
c.71097T>C (p.Ser23699=)
c.68139T>C (p.Ser22713=)
c.49755T>C (p.Ser16585=)
c.71250T>C (p.Ser23750=)
c.71247T>C (p.Ser23749=)
c.70680T>C (p.Ser23560=)
c.68022T>C (p.Ser22674=)
c.67941T>C (p.Ser22647=)
c.49704T>C (p.Ser16568=)
c.39558T>C (p.Ser13186=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178569323A>TCA349613811TTN,TTN-AS1c.69105T>A (p.Ser23035Arg)
c.50190T>A (p.Ser16730Arg)
c.49989T>A (p.Ser16663Arg)
c.49614T>A (p.Ser16538Arg)
c.76809T>A (p.Ser25603Arg)
c.71886T>A (p.Ser23962Arg)
n.447-1977A>T
n.2044-13249A>T
c.75906T>A (p.Ser25302Arg)
c.49800T>A (p.Ser16600Arg)
c.49659T>A (p.Ser16553Arg)
c.75702T>A (p.Ser25234Arg)
c.71100T>A (p.Ser23700Arg)
c.71097T>A (p.Ser23699Arg)
c.68139T>A (p.Ser22713Arg)
c.49755T>A (p.Ser16585Arg)
c.71250T>A (p.Ser23750Arg)
c.71247T>A (p.Ser23749Arg)
c.70680T>A (p.Ser23560Arg)
c.68022T>A (p.Ser22674Arg)
c.67941T>A (p.Ser22647Arg)
c.49704T>A (p.Ser16568Arg)
c.39558T>A (p.Ser13186Arg)
2g.178569324C>ACA349613815TTN,TTN-AS1c.69104G>T (p.Ser23035Ile)
c.50189G>T (p.Ser16730Ile)
c.49988G>T (p.Ser16663Ile)
c.49613G>T (p.Ser16538Ile)
c.76808G>T (p.Ser25603Ile)
c.71885G>T (p.Ser23962Ile)
n.447-1976C>A
n.2044-13248C>A
c.75905G>T (p.Ser25302Ile)
c.49799G>T (p.Ser16600Ile)
c.49658G>T (p.Ser16553Ile)
c.75701G>T (p.Ser25234Ile)
c.71099G>T (p.Ser23700Ile)
c.71096G>T (p.Ser23699Ile)
c.68138G>T (p.Ser22713Ile)
c.49754G>T (p.Ser16585Ile)
c.71249G>T (p.Ser23750Ile)
c.71246G>T (p.Ser23749Ile)
c.70679G>T (p.Ser23560Ile)
c.68021G>T (p.Ser22674Ile)
c.67940G>T (p.Ser22647Ile)
c.49703G>T (p.Ser16568Ile)
c.39557G>T (p.Ser13186Ile)
2g.178569324C>GCA349613816TTN,TTN-AS1c.69104G>C (p.Ser23035Thr)
c.50189G>C (p.Ser16730Thr)
c.49988G>C (p.Ser16663Thr)
c.49613G>C (p.Ser16538Thr)
c.76808G>C (p.Ser25603Thr)
c.71885G>C (p.Ser23962Thr)
n.447-1976C>G
n.2044-13248C>G
c.75905G>C (p.Ser25302Thr)
c.49799G>C (p.Ser16600Thr)
c.49658G>C (p.Ser16553Thr)
c.75701G>C (p.Ser25234Thr)
c.71099G>C (p.Ser23700Thr)
c.71096G>C (p.Ser23699Thr)
c.68138G>C (p.Ser22713Thr)
c.49754G>C (p.Ser16585Thr)
c.71249G>C (p.Ser23750Thr)
c.71246G>C (p.Ser23749Thr)
c.70679G>C (p.Ser23560Thr)
c.68021G>C (p.Ser22674Thr)
c.67940G>C (p.Ser22647Thr)
c.49703G>C (p.Ser16568Thr)
c.39557G>C (p.Ser13186Thr)
2g.178569324C>TCA349613818TTN,TTN-AS1c.69104G>A (p.Ser23035Asn)
c.50189G>A (p.Ser16730Asn)
c.49988G>A (p.Ser16663Asn)
c.49613G>A (p.Ser16538Asn)
c.76808G>A (p.Ser25603Asn)
c.71885G>A (p.Ser23962Asn)
n.447-1976C>T
n.2044-13248C>T
c.75905G>A (p.Ser25302Asn)
c.49799G>A (p.Ser16600Asn)
c.49658G>A (p.Ser16553Asn)
c.75701G>A (p.Ser25234Asn)
c.71099G>A (p.Ser23700Asn)
c.71096G>A (p.Ser23699Asn)
c.68138G>A (p.Ser22713Asn)
c.49754G>A (p.Ser16585Asn)
c.71249G>A (p.Ser23750Asn)
c.71246G>A (p.Ser23749Asn)
c.70679G>A (p.Ser23560Asn)
c.68021G>A (p.Ser22674Asn)
c.67940G>A (p.Ser22647Asn)
c.49703G>A (p.Ser16568Asn)
c.39557G>A (p.Ser13186Asn)
2g.178569325T>ACA349613820TTN,TTN-AS1c.69103A>T (p.Ser23035Cys)
c.50188A>T (p.Ser16730Cys)
c.49987A>T (p.Ser16663Cys)
c.49612A>T (p.Ser16538Cys)
c.76807A>T (p.Ser25603Cys)
c.71884A>T (p.Ser23962Cys)
n.447-1975T>A
n.2044-13247T>A
c.75904A>T (p.Ser25302Cys)
c.49798A>T (p.Ser16600Cys)
c.49657A>T (p.Ser16553Cys)
c.75700A>T (p.Ser25234Cys)
c.71098A>T (p.Ser23700Cys)
c.71095A>T (p.Ser23699Cys)
c.68137A>T (p.Ser22713Cys)
c.49753A>T (p.Ser16585Cys)
c.71248A>T (p.Ser23750Cys)
c.71245A>T (p.Ser23749Cys)
c.70678A>T (p.Ser23560Cys)
c.68020A>T (p.Ser22674Cys)
c.67939A>T (p.Ser22647Cys)
c.49702A>T (p.Ser16568Cys)
c.39556A>T (p.Ser13186Cys)
2g.178569325T>CCA349613829TTN,TTN-AS1c.69103A>G (p.Ser23035Gly)
c.50188A>G (p.Ser16730Gly)
c.49987A>G (p.Ser16663Gly)
c.49612A>G (p.Ser16538Gly)
c.76807A>G (p.Ser25603Gly)
c.71884A>G (p.Ser23962Gly)
n.447-1975T>C
n.2044-13247T>C
c.75904A>G (p.Ser25302Gly)
c.49798A>G (p.Ser16600Gly)
c.49657A>G (p.Ser16553Gly)
c.75700A>G (p.Ser25234Gly)
c.71098A>G (p.Ser23700Gly)
c.71095A>G (p.Ser23699Gly)
c.68137A>G (p.Ser22713Gly)
c.49753A>G (p.Ser16585Gly)
c.71248A>G (p.Ser23750Gly)
c.71245A>G (p.Ser23749Gly)
c.70678A>G (p.Ser23560Gly)
c.68020A>G (p.Ser22674Gly)
c.67939A>G (p.Ser22647Gly)
c.49702A>G (p.Ser16568Gly)
c.39556A>G (p.Ser13186Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178569325T>GCA349613831TTN,TTN-AS1c.69103A>C (p.Ser23035Arg)
c.50188A>C (p.Ser16730Arg)
c.49987A>C (p.Ser16663Arg)
c.49612A>C (p.Ser16538Arg)
c.76807A>C (p.Ser25603Arg)
c.71884A>C (p.Ser23962Arg)
n.447-1975T>G
n.2044-13247T>G
c.75904A>C (p.Ser25302Arg)
c.49798A>C (p.Ser16600Arg)
c.49657A>C (p.Ser16553Arg)
c.75700A>C (p.Ser25234Arg)
c.71098A>C (p.Ser23700Arg)
c.71095A>C (p.Ser23699Arg)
c.68137A>C (p.Ser22713Arg)
c.49753A>C (p.Ser16585Arg)
c.71248A>C (p.Ser23750Arg)
c.71245A>C (p.Ser23749Arg)
c.70678A>C (p.Ser23560Arg)
c.68020A>C (p.Ser22674Arg)
c.67939A>C (p.Ser22647Arg)
c.49702A>C (p.Ser16568Arg)
c.39556A>C (p.Ser13186Arg)
2g.178569325T=CA1310530345TTN,TTN-AS1c.69103A= (p.Ser23035=)
c.50188A= (p.Ser16730=)
c.49987A= (p.Ser16663=)
c.49612A= (p.Ser16538=)
c.76807A= (p.Ser25603=)
c.71884A= (p.Ser23962=)
n.447-1975T=
n.2044-13247T=
c.75904A= (p.Ser25302=)
c.49798A= (p.Ser16600=)
c.49657A= (p.Ser16553=)
c.75700A= (p.Ser25234=)
c.71098A= (p.Ser23700=)
c.71095A= (p.Ser23699=)
c.68137A= (p.Ser22713=)
c.49753A= (p.Ser16585=)
c.71248A= (p.Ser23750=)
c.71245A= (p.Ser23749=)
c.70678A= (p.Ser23560=)
c.68020A= (p.Ser22674=)
c.67939A= (p.Ser22647=)
c.49702A= (p.Ser16568=)
c.39556A= (p.Ser13186=)
2g.178569326dupCA2573133032TTN,TTN-AS1c.69103dup (p.Ser23035LysfsTer5)
c.50188dup (p.Ser16730LysfsTer5)
c.49987dup (p.Ser16663LysfsTer5)
c.49612dup (p.Ser16538LysfsTer5)
c.76807dup (p.Ser25603LysfsTer5)
c.71884dup (p.Ser23962LysfsTer5)
n.447-1974dup
n.2044-13246dup
c.75904dup (p.Ser25302LysfsTer5)
c.49798dup (p.Ser16600LysfsTer5)
c.49657dup (p.Ser16553LysfsTer5)
c.75700dup (p.Ser25234LysfsTer5)
c.71098dup (p.Ser23700LysfsTer5)
c.71095dup (p.Ser23699LysfsTer5)
c.68137dup (p.Ser22713LysfsTer5)
c.49753dup (p.Ser16585LysfsTer5)
c.71248dup (p.Ser23750LysfsTer5)
c.71245dup (p.Ser23749LysfsTer5)
c.70678dup (p.Ser23560LysfsTer5)
c.68020dup (p.Ser22674LysfsTer5)
c.67939dup (p.Ser22647LysfsTer5)
c.49702dup (p.Ser16568LysfsTer5)
c.39556dup (p.Ser13186LysfsTer5)
 ClinVar dbSNP
2g.178569326T>ACA430254190TTN,TTN-AS1c.69102A>T (p.Pro23034=)
c.50187A>T (p.Pro16729=)
c.49986A>T (p.Pro16662=)
c.49611A>T (p.Pro16537=)
c.76806A>T (p.Pro25602=)
c.71883A>T (p.Pro23961=)
n.447-1974T>A
n.2044-13246T>A
c.75903A>T (p.Pro25301=)
c.49797A>T (p.Pro16599=)
c.49656A>T (p.Pro16552=)
c.75699A>T (p.Pro25233=)
c.71097A>T (p.Pro23699=)
c.71094A>T (p.Pro23698=)
c.68136A>T (p.Pro22712=)
c.49752A>T (p.Pro16584=)
c.71247A>T (p.Pro23749=)
c.71244A>T (p.Pro23748=)
c.70677A>T (p.Pro23559=)
c.68019A>T (p.Pro22673=)
c.67938A>T (p.Pro22646=)
c.49701A>T (p.Pro16567=)
c.39555A>T (p.Pro13185=)
2g.178569326T>CCA430254191TTN,TTN-AS1c.69102A>G (p.Pro23034=)
c.50187A>G (p.Pro16729=)
c.49986A>G (p.Pro16662=)
c.49611A>G (p.Pro16537=)
c.76806A>G (p.Pro25602=)
c.71883A>G (p.Pro23961=)
n.447-1974T>C
n.2044-13246T>C
c.75903A>G (p.Pro25301=)
c.49797A>G (p.Pro16599=)
c.49656A>G (p.Pro16552=)
c.75699A>G (p.Pro25233=)
c.71097A>G (p.Pro23699=)
c.71094A>G (p.Pro23698=)
c.68136A>G (p.Pro22712=)
c.49752A>G (p.Pro16584=)
c.71247A>G (p.Pro23749=)
c.71244A>G (p.Pro23748=)
c.70677A>G (p.Pro23559=)
c.68019A>G (p.Pro22673=)
c.67938A>G (p.Pro22646=)
c.49701A>G (p.Pro16567=)
c.39555A>G (p.Pro13185=)
2g.178569326T>GCA430254192TTN,TTN-AS1c.69102A>C (p.Pro23034=)
c.50187A>C (p.Pro16729=)
c.49986A>C (p.Pro16662=)
c.49611A>C (p.Pro16537=)
c.76806A>C (p.Pro25602=)
c.71883A>C (p.Pro23961=)
n.447-1974T>G
n.2044-13246T>G
c.75903A>C (p.Pro25301=)
c.49797A>C (p.Pro16599=)
c.49656A>C (p.Pro16552=)
c.75699A>C (p.Pro25233=)
c.71097A>C (p.Pro23699=)
c.71094A>C (p.Pro23698=)
c.68136A>C (p.Pro22712=)
c.49752A>C (p.Pro16584=)
c.71247A>C (p.Pro23749=)
c.71244A>C (p.Pro23748=)
c.70677A>C (p.Pro23559=)
c.68019A>C (p.Pro22673=)
c.67938A>C (p.Pro22646=)
c.49701A>C (p.Pro16567=)
c.39555A>C (p.Pro13185=)
2g.178569327G>ACA349613833TTN,TTN-AS1c.69101C>T (p.Pro23034Leu)
c.50186C>T (p.Pro16729Leu)
c.49985C>T (p.Pro16662Leu)
c.49610C>T (p.Pro16537Leu)
c.76805C>T (p.Pro25602Leu)
c.71882C>T (p.Pro23961Leu)
n.447-1973G>A
n.2044-13245G>A
c.75902C>T (p.Pro25301Leu)
c.49796C>T (p.Pro16599Leu)
c.49655C>T (p.Pro16552Leu)
c.75698C>T (p.Pro25233Leu)
c.71096C>T (p.Pro23699Leu)
c.71093C>T (p.Pro23698Leu)
c.68135C>T (p.Pro22712Leu)
c.49751C>T (p.Pro16584Leu)
c.71246C>T (p.Pro23749Leu)
c.71243C>T (p.Pro23748Leu)
c.70676C>T (p.Pro23559Leu)
c.68018C>T (p.Pro22673Leu)
c.67937C>T (p.Pro22646Leu)
c.49700C>T (p.Pro16567Leu)
c.39554C>T (p.Pro13185Leu)
2g.178569327G>CCA349613834TTN,TTN-AS1c.69101C>G (p.Pro23034Arg)
c.50186C>G (p.Pro16729Arg)
c.49985C>G (p.Pro16662Arg)
c.49610C>G (p.Pro16537Arg)
c.76805C>G (p.Pro25602Arg)
c.71882C>G (p.Pro23961Arg)
n.447-1973G>C
n.2044-13245G>C
c.75902C>G (p.Pro25301Arg)
c.49796C>G (p.Pro16599Arg)
c.49655C>G (p.Pro16552Arg)
c.75698C>G (p.Pro25233Arg)
c.71096C>G (p.Pro23699Arg)
c.71093C>G (p.Pro23698Arg)
c.68135C>G (p.Pro22712Arg)
c.49751C>G (p.Pro16584Arg)
c.71246C>G (p.Pro23749Arg)
c.71243C>G (p.Pro23748Arg)
c.70676C>G (p.Pro23559Arg)
c.68018C>G (p.Pro22673Arg)
c.67937C>G (p.Pro22646Arg)
c.49700C>G (p.Pro16567Arg)
c.39554C>G (p.Pro13185Arg)
2g.178569327G>TCA349613836TTN,TTN-AS1c.69101C>A (p.Pro23034Gln)
c.50186C>A (p.Pro16729Gln)
c.49985C>A (p.Pro16662Gln)
c.49610C>A (p.Pro16537Gln)
c.76805C>A (p.Pro25602Gln)
c.71882C>A (p.Pro23961Gln)
n.447-1973G>T
n.2044-13245G>T
c.75902C>A (p.Pro25301Gln)
c.49796C>A (p.Pro16599Gln)
c.49655C>A (p.Pro16552Gln)
c.75698C>A (p.Pro25233Gln)
c.71096C>A (p.Pro23699Gln)
c.71093C>A (p.Pro23698Gln)
c.68135C>A (p.Pro22712Gln)
c.49751C>A (p.Pro16584Gln)
c.71246C>A (p.Pro23749Gln)
c.71243C>A (p.Pro23748Gln)
c.70676C>A (p.Pro23559Gln)
c.68018C>A (p.Pro22673Gln)
c.67937C>A (p.Pro22646Gln)
c.49700C>A (p.Pro16567Gln)
c.39554C>A (p.Pro13185Gln)
2g.178569328G>ACA349613838TTN,TTN-AS1c.69100C>T (p.Pro23034Ser)
c.50185C>T (p.Pro16729Ser)
c.49984C>T (p.Pro16662Ser)
c.49609C>T (p.Pro16537Ser)
c.76804C>T (p.Pro25602Ser)
c.71881C>T (p.Pro23961Ser)
n.447-1972G>A
n.2044-13244G>A
c.75901C>T (p.Pro25301Ser)
c.49795C>T (p.Pro16599Ser)
c.49654C>T (p.Pro16552Ser)
c.75697C>T (p.Pro25233Ser)
c.71095C>T (p.Pro23699Ser)
c.71092C>T (p.Pro23698Ser)
c.68134C>T (p.Pro22712Ser)
c.49750C>T (p.Pro16584Ser)
c.71245C>T (p.Pro23749Ser)
c.71242C>T (p.Pro23748Ser)
c.70675C>T (p.Pro23559Ser)
c.68017C>T (p.Pro22673Ser)
c.67936C>T (p.Pro22646Ser)
c.49699C>T (p.Pro16567Ser)
c.39553C>T (p.Pro13185Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.178569328G>CCA349613839TTN,TTN-AS1c.69100C>G (p.Pro23034Ala)
c.50185C>G (p.Pro16729Ala)
c.49984C>G (p.Pro16662Ala)
c.49609C>G (p.Pro16537Ala)
c.76804C>G (p.Pro25602Ala)
c.71881C>G (p.Pro23961Ala)
n.447-1972G>C
n.2044-13244G>C
c.75901C>G (p.Pro25301Ala)
c.49795C>G (p.Pro16599Ala)
c.49654C>G (p.Pro16552Ala)
c.75697C>G (p.Pro25233Ala)
c.71095C>G (p.Pro23699Ala)
c.71092C>G (p.Pro23698Ala)
c.68134C>G (p.Pro22712Ala)
c.49750C>G (p.Pro16584Ala)
c.71245C>G (p.Pro23749Ala)
c.71242C>G (p.Pro23748Ala)
c.70675C>G (p.Pro23559Ala)
c.68017C>G (p.Pro22673Ala)
c.67936C>G (p.Pro22646Ala)
c.49699C>G (p.Pro16567Ala)
c.39553C>G (p.Pro13185Ala)

Number of alleles fetched