Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178570546T>ACA349621781TTN,TTN-AS1c.67882A>T (p.Thr22628Ser)
c.48967A>T (p.Thr16323Ser)
c.48766A>T (p.Thr16256Ser)
c.48391A>T (p.Thr16131Ser)
c.75586A>T (p.Thr25196Ser)
c.70663A>T (p.Thr23555Ser)
n.447-754T>A
n.2044-12026T>A
c.74683A>T (p.Thr24895Ser)
c.48577A>T (p.Thr16193Ser)
c.48436A>T (p.Thr16146Ser)
c.74479A>T (p.Thr24827Ser)
c.69877A>T (p.Thr23293Ser)
c.69874A>T (p.Thr23292Ser)
c.66916A>T (p.Thr22306Ser)
c.48532A>T (p.Thr16178Ser)
c.70027A>T (p.Thr23343Ser)
c.70024A>T (p.Thr23342Ser)
c.69457A>T (p.Thr23153Ser)
c.66799A>T (p.Thr22267Ser)
c.66718A>T (p.Thr22240Ser)
c.48481A>T (p.Thr16161Ser)
c.38335A>T (p.Thr12779Ser)
2g.178570546T>CCA349621774TTN,TTN-AS1c.67882A>G (p.Thr22628Ala)
c.48967A>G (p.Thr16323Ala)
c.48766A>G (p.Thr16256Ala)
c.48391A>G (p.Thr16131Ala)
c.75586A>G (p.Thr25196Ala)
c.70663A>G (p.Thr23555Ala)
n.447-754T>C
n.2044-12026T>C
c.74683A>G (p.Thr24895Ala)
c.48577A>G (p.Thr16193Ala)
c.48436A>G (p.Thr16146Ala)
c.74479A>G (p.Thr24827Ala)
c.69877A>G (p.Thr23293Ala)
c.69874A>G (p.Thr23292Ala)
c.66916A>G (p.Thr22306Ala)
c.48532A>G (p.Thr16178Ala)
c.70027A>G (p.Thr23343Ala)
c.70024A>G (p.Thr23342Ala)
c.69457A>G (p.Thr23153Ala)
c.66799A>G (p.Thr22267Ala)
c.66718A>G (p.Thr22240Ala)
c.48481A>G (p.Thr16161Ala)
c.38335A>G (p.Thr12779Ala)
 COSMIC COSMIC COSMIC COSMIC
2g.178570546T>GCA349621779TTN,TTN-AS1c.67882A>C (p.Thr22628Pro)
c.48967A>C (p.Thr16323Pro)
c.48766A>C (p.Thr16256Pro)
c.48391A>C (p.Thr16131Pro)
c.75586A>C (p.Thr25196Pro)
c.70663A>C (p.Thr23555Pro)
n.447-754T>G
n.2044-12026T>G
c.74683A>C (p.Thr24895Pro)
c.48577A>C (p.Thr16193Pro)
c.48436A>C (p.Thr16146Pro)
c.74479A>C (p.Thr24827Pro)
c.69877A>C (p.Thr23293Pro)
c.69874A>C (p.Thr23292Pro)
c.66916A>C (p.Thr22306Pro)
c.48532A>C (p.Thr16178Pro)
c.70027A>C (p.Thr23343Pro)
c.70024A>C (p.Thr23342Pro)
c.69457A>C (p.Thr23153Pro)
c.66799A>C (p.Thr22267Pro)
c.66718A>C (p.Thr22240Pro)
c.48481A>C (p.Thr16161Pro)
c.38335A>C (p.Thr12779Pro)
2g.178570547A>CCA430254901TTN,TTN-AS1c.67881T>G (p.Val22627=)
c.48966T>G (p.Val16322=)
c.48765T>G (p.Val16255=)
c.48390T>G (p.Val16130=)
c.75585T>G (p.Val25195=)
c.70662T>G (p.Val23554=)
n.447-753A>C
n.2044-12025A>C
c.74682T>G (p.Val24894=)
c.48576T>G (p.Val16192=)
c.48435T>G (p.Val16145=)
c.74478T>G (p.Val24826=)
c.69876T>G (p.Val23292=)
c.69873T>G (p.Val23291=)
c.66915T>G (p.Val22305=)
c.48531T>G (p.Val16177=)
c.70026T>G (p.Val23342=)
c.70023T>G (p.Val23341=)
c.69456T>G (p.Val23152=)
c.66798T>G (p.Val22266=)
c.66717T>G (p.Val22239=)
c.48480T>G (p.Val16160=)
c.38334T>G (p.Val12778=)
2g.178570547A>GCA430254899TTN,TTN-AS1c.67881T>C (p.Val22627=)
c.48966T>C (p.Val16322=)
c.48765T>C (p.Val16255=)
c.48390T>C (p.Val16130=)
c.75585T>C (p.Val25195=)
c.70662T>C (p.Val23554=)
n.447-753A>G
n.2044-12025A>G
c.74682T>C (p.Val24894=)
c.48576T>C (p.Val16192=)
c.48435T>C (p.Val16145=)
c.74478T>C (p.Val24826=)
c.69876T>C (p.Val23292=)
c.69873T>C (p.Val23291=)
c.66915T>C (p.Val22305=)
c.48531T>C (p.Val16177=)
c.70026T>C (p.Val23342=)
c.70023T>C (p.Val23341=)
c.69456T>C (p.Val23152=)
c.66798T>C (p.Val22266=)
c.66717T>C (p.Val22239=)
c.48480T>C (p.Val16160=)
c.38334T>C (p.Val12778=)
2g.178570547A>TCA430254900TTN,TTN-AS1c.67881T>A (p.Val22627=)
c.48966T>A (p.Val16322=)
c.48765T>A (p.Val16255=)
c.48390T>A (p.Val16130=)
c.75585T>A (p.Val25195=)
c.70662T>A (p.Val23554=)
n.447-753A>T
n.2044-12025A>T
c.74682T>A (p.Val24894=)
c.48576T>A (p.Val16192=)
c.48435T>A (p.Val16145=)
c.74478T>A (p.Val24826=)
c.69876T>A (p.Val23292=)
c.69873T>A (p.Val23291=)
c.66915T>A (p.Val22305=)
c.48531T>A (p.Val16177=)
c.70026T>A (p.Val23342=)
c.70023T>A (p.Val23341=)
c.69456T>A (p.Val23152=)
c.66798T>A (p.Val22266=)
c.66717T>A (p.Val22239=)
c.48480T>A (p.Val16160=)
c.38334T>A (p.Val12778=)
2g.178570548A>CCA349621786TTN,TTN-AS1c.67880T>G (p.Val22627Gly)
c.48965T>G (p.Val16322Gly)
c.48764T>G (p.Val16255Gly)
c.48389T>G (p.Val16130Gly)
c.75584T>G (p.Val25195Gly)
c.70661T>G (p.Val23554Gly)
n.447-752A>C
n.2044-12024A>C
c.74681T>G (p.Val24894Gly)
c.48575T>G (p.Val16192Gly)
c.48434T>G (p.Val16145Gly)
c.74477T>G (p.Val24826Gly)
c.69875T>G (p.Val23292Gly)
c.69872T>G (p.Val23291Gly)
c.66914T>G (p.Val22305Gly)
c.48530T>G (p.Val16177Gly)
c.70025T>G (p.Val23342Gly)
c.70022T>G (p.Val23341Gly)
c.69455T>G (p.Val23152Gly)
c.66797T>G (p.Val22266Gly)
c.66716T>G (p.Val22239Gly)
c.48479T>G (p.Val16160Gly)
c.38333T>G (p.Val12778Gly)
2g.178570548A>GCA349621790TTN,TTN-AS1c.67880T>C (p.Val22627Ala)
c.48965T>C (p.Val16322Ala)
c.48764T>C (p.Val16255Ala)
c.48389T>C (p.Val16130Ala)
c.75584T>C (p.Val25195Ala)
c.70661T>C (p.Val23554Ala)
n.447-752A>G
n.2044-12024A>G
c.74681T>C (p.Val24894Ala)
c.48575T>C (p.Val16192Ala)
c.48434T>C (p.Val16145Ala)
c.74477T>C (p.Val24826Ala)
c.69875T>C (p.Val23292Ala)
c.69872T>C (p.Val23291Ala)
c.66914T>C (p.Val22305Ala)
c.48530T>C (p.Val16177Ala)
c.70025T>C (p.Val23342Ala)
c.70022T>C (p.Val23341Ala)
c.69455T>C (p.Val23152Ala)
c.66797T>C (p.Val22266Ala)
c.66716T>C (p.Val22239Ala)
c.48479T>C (p.Val16160Ala)
c.38333T>C (p.Val12778Ala)
2g.178570548A>TCA349621793TTN,TTN-AS1c.67880T>A (p.Val22627Asp)
c.48965T>A (p.Val16322Asp)
c.48764T>A (p.Val16255Asp)
c.48389T>A (p.Val16130Asp)
c.75584T>A (p.Val25195Asp)
c.70661T>A (p.Val23554Asp)
n.447-752A>T
n.2044-12024A>T
c.74681T>A (p.Val24894Asp)
c.48575T>A (p.Val16192Asp)
c.48434T>A (p.Val16145Asp)
c.74477T>A (p.Val24826Asp)
c.69875T>A (p.Val23292Asp)
c.69872T>A (p.Val23291Asp)
c.66914T>A (p.Val22305Asp)
c.48530T>A (p.Val16177Asp)
c.70025T>A (p.Val23342Asp)
c.70022T>A (p.Val23341Asp)
c.69455T>A (p.Val23152Asp)
c.66797T>A (p.Val22266Asp)
c.66716T>A (p.Val22239Asp)
c.48479T>A (p.Val16160Asp)
c.38333T>A (p.Val12778Asp)
2g.178570549C>ACA349621800TTN,TTN-AS1c.67879G>T (p.Val22627Phe)
c.48964G>T (p.Val16322Phe)
c.48763G>T (p.Val16255Phe)
c.48388G>T (p.Val16130Phe)
c.75583G>T (p.Val25195Phe)
c.70660G>T (p.Val23554Phe)
n.447-751C>A
n.2044-12023C>A
c.74680G>T (p.Val24894Phe)
c.48574G>T (p.Val16192Phe)
c.48433G>T (p.Val16145Phe)
c.74476G>T (p.Val24826Phe)
c.69874G>T (p.Val23292Phe)
c.69871G>T (p.Val23291Phe)
c.66913G>T (p.Val22305Phe)
c.48529G>T (p.Val16177Phe)
c.70024G>T (p.Val23342Phe)
c.70021G>T (p.Val23341Phe)
c.69454G>T (p.Val23152Phe)
c.66796G>T (p.Val22266Phe)
c.66715G>T (p.Val22239Phe)
c.48478G>T (p.Val16160Phe)
c.38332G>T (p.Val12778Phe)
2g.178570549C>GCA349621807TTN,TTN-AS1c.67879G>C (p.Val22627Leu)
c.48964G>C (p.Val16322Leu)
c.48763G>C (p.Val16255Leu)
c.48388G>C (p.Val16130Leu)
c.75583G>C (p.Val25195Leu)
c.70660G>C (p.Val23554Leu)
n.447-751C>G
n.2044-12023C>G
c.74680G>C (p.Val24894Leu)
c.48574G>C (p.Val16192Leu)
c.48433G>C (p.Val16145Leu)
c.74476G>C (p.Val24826Leu)
c.69874G>C (p.Val23292Leu)
c.69871G>C (p.Val23291Leu)
c.66913G>C (p.Val22305Leu)
c.48529G>C (p.Val16177Leu)
c.70024G>C (p.Val23342Leu)
c.70021G>C (p.Val23341Leu)
c.69454G>C (p.Val23152Leu)
c.66796G>C (p.Val22266Leu)
c.66715G>C (p.Val22239Leu)
c.48478G>C (p.Val16160Leu)
c.38332G>C (p.Val12778Leu)
2g.178570549C>TCA349621809TTN,TTN-AS1c.67879G>A (p.Val22627Ile)
c.48964G>A (p.Val16322Ile)
c.48763G>A (p.Val16255Ile)
c.48388G>A (p.Val16130Ile)
c.75583G>A (p.Val25195Ile)
c.70660G>A (p.Val23554Ile)
n.447-751C>T
n.2044-12023C>T
c.74680G>A (p.Val24894Ile)
c.48574G>A (p.Val16192Ile)
c.48433G>A (p.Val16145Ile)
c.74476G>A (p.Val24826Ile)
c.69874G>A (p.Val23292Ile)
c.69871G>A (p.Val23291Ile)
c.66913G>A (p.Val22305Ile)
c.48529G>A (p.Val16177Ile)
c.70024G>A (p.Val23342Ile)
c.70021G>A (p.Val23341Ile)
c.69454G>A (p.Val23152Ile)
c.66796G>A (p.Val22266Ile)
c.66715G>A (p.Val22239Ile)
c.48478G>A (p.Val16160Ile)
c.38332G>A (p.Val12778Ile)
2g.178570550T>ACA430254902TTN,TTN-AS1c.67878A>T (p.Ser22626=)
c.48963A>T (p.Ser16321=)
c.48762A>T (p.Ser16254=)
c.48387A>T (p.Ser16129=)
c.75582A>T (p.Ser25194=)
c.70659A>T (p.Ser23553=)
n.447-750T>A
n.2044-12022T>A
c.74679A>T (p.Ser24893=)
c.48573A>T (p.Ser16191=)
c.48432A>T (p.Ser16144=)
c.74475A>T (p.Ser24825=)
c.69873A>T (p.Ser23291=)
c.69870A>T (p.Ser23290=)
c.66912A>T (p.Ser22304=)
c.48528A>T (p.Ser16176=)
c.70023A>T (p.Ser23341=)
c.70020A>T (p.Ser23340=)
c.69453A>T (p.Ser23151=)
c.66795A>T (p.Ser22265=)
c.66714A>T (p.Ser22238=)
c.48477A>T (p.Ser16159=)
c.38331A>T (p.Ser12777=)
2g.178570550T>CCA430254903TTN,TTN-AS1c.67878A>G (p.Ser22626=)
c.48963A>G (p.Ser16321=)
c.48762A>G (p.Ser16254=)
c.48387A>G (p.Ser16129=)
c.75582A>G (p.Ser25194=)
c.70659A>G (p.Ser23553=)
n.447-750T>C
n.2044-12022T>C
c.74679A>G (p.Ser24893=)
c.48573A>G (p.Ser16191=)
c.48432A>G (p.Ser16144=)
c.74475A>G (p.Ser24825=)
c.69873A>G (p.Ser23291=)
c.69870A>G (p.Ser23290=)
c.66912A>G (p.Ser22304=)
c.48528A>G (p.Ser16176=)
c.70023A>G (p.Ser23341=)
c.70020A>G (p.Ser23340=)
c.69453A>G (p.Ser23151=)
c.66795A>G (p.Ser22265=)
c.66714A>G (p.Ser22238=)
c.48477A>G (p.Ser16159=)
c.38331A>G (p.Ser12777=)
2g.178570550T>GCA430254904TTN,TTN-AS1c.67878A>C (p.Ser22626=)
c.48963A>C (p.Ser16321=)
c.48762A>C (p.Ser16254=)
c.48387A>C (p.Ser16129=)
c.75582A>C (p.Ser25194=)
c.70659A>C (p.Ser23553=)
n.447-750T>G
n.2044-12022T>G
c.74679A>C (p.Ser24893=)
c.48573A>C (p.Ser16191=)
c.48432A>C (p.Ser16144=)
c.74475A>C (p.Ser24825=)
c.69873A>C (p.Ser23291=)
c.69870A>C (p.Ser23290=)
c.66912A>C (p.Ser22304=)
c.48528A>C (p.Ser16176=)
c.70023A>C (p.Ser23341=)
c.70020A>C (p.Ser23340=)
c.69453A>C (p.Ser23151=)
c.66795A>C (p.Ser22265=)
c.66714A>C (p.Ser22238=)
c.48477A>C (p.Ser16159=)
c.38331A>C (p.Ser12777=)
2g.178570551G>ACA349621812TTN,TTN-AS1c.67877C>T (p.Ser22626Leu)
c.48962C>T (p.Ser16321Leu)
c.48761C>T (p.Ser16254Leu)
c.48386C>T (p.Ser16129Leu)
c.75581C>T (p.Ser25194Leu)
c.70658C>T (p.Ser23553Leu)
n.447-749G>A
n.2044-12021G>A
c.74678C>T (p.Ser24893Leu)
c.48572C>T (p.Ser16191Leu)
c.48431C>T (p.Ser16144Leu)
c.74474C>T (p.Ser24825Leu)
c.69872C>T (p.Ser23291Leu)
c.69869C>T (p.Ser23290Leu)
c.66911C>T (p.Ser22304Leu)
c.48527C>T (p.Ser16176Leu)
c.70022C>T (p.Ser23341Leu)
c.70019C>T (p.Ser23340Leu)
c.69452C>T (p.Ser23151Leu)
c.66794C>T (p.Ser22265Leu)
c.66713C>T (p.Ser22238Leu)
c.48476C>T (p.Ser16159Leu)
c.38330C>T (p.Ser12777Leu)
 ClinVar
2g.178570551G>CCA349621815TTN,TTN-AS1c.67877C>G (p.Ser22626Ter)
c.48962C>G (p.Ser16321Ter)
c.48761C>G (p.Ser16254Ter)
c.48386C>G (p.Ser16129Ter)
c.75581C>G (p.Ser25194Ter)
c.70658C>G (p.Ser23553Ter)
n.447-749G>C
n.2044-12021G>C
c.74678C>G (p.Ser24893Ter)
c.48572C>G (p.Ser16191Ter)
c.48431C>G (p.Ser16144Ter)
c.74474C>G (p.Ser24825Ter)
c.69872C>G (p.Ser23291Ter)
c.69869C>G (p.Ser23290Ter)
c.66911C>G (p.Ser22304Ter)
c.48527C>G (p.Ser16176Ter)
c.70022C>G (p.Ser23341Ter)
c.70019C>G (p.Ser23340Ter)
c.69452C>G (p.Ser23151Ter)
c.66794C>G (p.Ser22265Ter)
c.66713C>G (p.Ser22238Ter)
c.48476C>G (p.Ser16159Ter)
c.38330C>G (p.Ser12777Ter)
2g.178570551G>TCA349621816TTN,TTN-AS1c.67877C>A (p.Ser22626Ter)
c.48962C>A (p.Ser16321Ter)
c.48761C>A (p.Ser16254Ter)
c.48386C>A (p.Ser16129Ter)
c.75581C>A (p.Ser25194Ter)
c.70658C>A (p.Ser23553Ter)
n.447-749G>T
n.2044-12021G>T
c.74678C>A (p.Ser24893Ter)
c.48572C>A (p.Ser16191Ter)
c.48431C>A (p.Ser16144Ter)
c.74474C>A (p.Ser24825Ter)
c.69872C>A (p.Ser23291Ter)
c.69869C>A (p.Ser23290Ter)
c.66911C>A (p.Ser22304Ter)
c.48527C>A (p.Ser16176Ter)
c.70022C>A (p.Ser23341Ter)
c.70019C>A (p.Ser23340Ter)
c.69452C>A (p.Ser23151Ter)
c.66794C>A (p.Ser22265Ter)
c.66713C>A (p.Ser22238Ter)
c.48476C>A (p.Ser16159Ter)
c.38330C>A (p.Ser12777Ter)
2g.178570552A>CCA349621822TTN,TTN-AS1c.67876T>G (p.Ser22626Ala)
c.48961T>G (p.Ser16321Ala)
c.48760T>G (p.Ser16254Ala)
c.48385T>G (p.Ser16129Ala)
c.75580T>G (p.Ser25194Ala)
c.70657T>G (p.Ser23553Ala)
n.447-748A>C
n.2044-12020A>C
c.74677T>G (p.Ser24893Ala)
c.48571T>G (p.Ser16191Ala)
c.48430T>G (p.Ser16144Ala)
c.74473T>G (p.Ser24825Ala)
c.69871T>G (p.Ser23291Ala)
c.69868T>G (p.Ser23290Ala)
c.66910T>G (p.Ser22304Ala)
c.48526T>G (p.Ser16176Ala)
c.70021T>G (p.Ser23341Ala)
c.70018T>G (p.Ser23340Ala)
c.69451T>G (p.Ser23151Ala)
c.66793T>G (p.Ser22265Ala)
c.66712T>G (p.Ser22238Ala)
c.48475T>G (p.Ser16159Ala)
c.38329T>G (p.Ser12777Ala)
2g.178570552A>GCA349621825TTN,TTN-AS1c.67876T>C (p.Ser22626Pro)
c.48961T>C (p.Ser16321Pro)
c.48760T>C (p.Ser16254Pro)
c.48385T>C (p.Ser16129Pro)
c.75580T>C (p.Ser25194Pro)
c.70657T>C (p.Ser23553Pro)
n.447-748A>G
n.2044-12020A>G
c.74677T>C (p.Ser24893Pro)
c.48571T>C (p.Ser16191Pro)
c.48430T>C (p.Ser16144Pro)
c.74473T>C (p.Ser24825Pro)
c.69871T>C (p.Ser23291Pro)
c.69868T>C (p.Ser23290Pro)
c.66910T>C (p.Ser22304Pro)
c.48526T>C (p.Ser16176Pro)
c.70021T>C (p.Ser23341Pro)
c.70018T>C (p.Ser23340Pro)
c.69451T>C (p.Ser23151Pro)
c.66793T>C (p.Ser22265Pro)
c.66712T>C (p.Ser22238Pro)
c.48475T>C (p.Ser16159Pro)
c.38329T>C (p.Ser12777Pro)
2g.178570552A>TCA349621827TTN,TTN-AS1c.67876T>A (p.Ser22626Thr)
c.48961T>A (p.Ser16321Thr)
c.48760T>A (p.Ser16254Thr)
c.48385T>A (p.Ser16129Thr)
c.75580T>A (p.Ser25194Thr)
c.70657T>A (p.Ser23553Thr)
n.447-748A>T
n.2044-12020A>T
c.74677T>A (p.Ser24893Thr)
c.48571T>A (p.Ser16191Thr)
c.48430T>A (p.Ser16144Thr)
c.74473T>A (p.Ser24825Thr)
c.69871T>A (p.Ser23291Thr)
c.69868T>A (p.Ser23290Thr)
c.66910T>A (p.Ser22304Thr)
c.48526T>A (p.Ser16176Thr)
c.70021T>A (p.Ser23341Thr)
c.70018T>A (p.Ser23340Thr)
c.69451T>A (p.Ser23151Thr)
c.66793T>A (p.Ser22265Thr)
c.66712T>A (p.Ser22238Thr)
c.48475T>A (p.Ser16159Thr)
c.38329T>A (p.Ser12777Thr)
2g.178570553T>ACA349621842TTN,TTN-AS1c.67875A>T (p.Arg22625Ser)
c.48960A>T (p.Arg16320Ser)
c.48759A>T (p.Arg16253Ser)
c.48384A>T (p.Arg16128Ser)
c.75579A>T (p.Arg25193Ser)
c.70656A>T (p.Arg23552Ser)
n.447-747T>A
n.2044-12019T>A
c.74676A>T (p.Arg24892Ser)
c.48570A>T (p.Arg16190Ser)
c.48429A>T (p.Arg16143Ser)
c.74472A>T (p.Arg24824Ser)
c.69870A>T (p.Arg23290Ser)
c.69867A>T (p.Arg23289Ser)
c.66909A>T (p.Arg22303Ser)
c.48525A>T (p.Arg16175Ser)
c.70020A>T (p.Arg23340Ser)
c.70017A>T (p.Arg23339Ser)
c.69450A>T (p.Arg23150Ser)
c.66792A>T (p.Arg22264Ser)
c.66711A>T (p.Arg22237Ser)
c.48474A>T (p.Arg16158Ser)
c.38328A>T (p.Arg12776Ser)
 gnomAD v4
2g.178570553T>CCA430254905TTN,TTN-AS1c.67875A>G (p.Arg22625=)
c.48960A>G (p.Arg16320=)
c.48759A>G (p.Arg16253=)
c.48384A>G (p.Arg16128=)
c.75579A>G (p.Arg25193=)
c.70656A>G (p.Arg23552=)
n.447-747T>C
n.2044-12019T>C
c.74676A>G (p.Arg24892=)
c.48570A>G (p.Arg16190=)
c.48429A>G (p.Arg16143=)
c.74472A>G (p.Arg24824=)
c.69870A>G (p.Arg23290=)
c.69867A>G (p.Arg23289=)
c.66909A>G (p.Arg22303=)
c.48525A>G (p.Arg16175=)
c.70020A>G (p.Arg23340=)
c.70017A>G (p.Arg23339=)
c.69450A>G (p.Arg23150=)
c.66792A>G (p.Arg22264=)
c.66711A>G (p.Arg22237=)
c.48474A>G (p.Arg16158=)
c.38328A>G (p.Arg12776=)
2g.178570553T>GCA349621840TTN,TTN-AS1c.67875A>C (p.Arg22625Ser)
c.48960A>C (p.Arg16320Ser)
c.48759A>C (p.Arg16253Ser)
c.48384A>C (p.Arg16128Ser)
c.75579A>C (p.Arg25193Ser)
c.70656A>C (p.Arg23552Ser)
n.447-747T>G
n.2044-12019T>G
c.74676A>C (p.Arg24892Ser)
c.48570A>C (p.Arg16190Ser)
c.48429A>C (p.Arg16143Ser)
c.74472A>C (p.Arg24824Ser)
c.69870A>C (p.Arg23290Ser)
c.69867A>C (p.Arg23289Ser)
c.66909A>C (p.Arg22303Ser)
c.48525A>C (p.Arg16175Ser)
c.70020A>C (p.Arg23340Ser)
c.70017A>C (p.Arg23339Ser)
c.69450A>C (p.Arg23150Ser)
c.66792A>C (p.Arg22264Ser)
c.66711A>C (p.Arg22237Ser)
c.48474A>C (p.Arg16158Ser)
c.38328A>C (p.Arg12776Ser)
2g.178570554C>ACA349621853TTN,TTN-AS1c.67874G>T (p.Arg22625Ile)
c.48959G>T (p.Arg16320Ile)
c.48758G>T (p.Arg16253Ile)
c.48383G>T (p.Arg16128Ile)
c.75578G>T (p.Arg25193Ile)
c.70655G>T (p.Arg23552Ile)
n.447-746C>A
n.2044-12018C>A
c.74675G>T (p.Arg24892Ile)
c.48569G>T (p.Arg16190Ile)
c.48428G>T (p.Arg16143Ile)
c.74471G>T (p.Arg24824Ile)
c.69869G>T (p.Arg23290Ile)
c.69866G>T (p.Arg23289Ile)
c.66908G>T (p.Arg22303Ile)
c.48524G>T (p.Arg16175Ile)
c.70019G>T (p.Arg23340Ile)
c.70016G>T (p.Arg23339Ile)
c.69449G>T (p.Arg23150Ile)
c.66791G>T (p.Arg22264Ile)
c.66710G>T (p.Arg22237Ile)
c.48473G>T (p.Arg16158Ile)
c.38327G>T (p.Arg12776Ile)
2g.178570554C>GCA349621855TTN,TTN-AS1c.67874G>C (p.Arg22625Thr)
c.48959G>C (p.Arg16320Thr)
c.48758G>C (p.Arg16253Thr)
c.48383G>C (p.Arg16128Thr)
c.75578G>C (p.Arg25193Thr)
c.70655G>C (p.Arg23552Thr)
n.447-746C>G
n.2044-12018C>G
c.74675G>C (p.Arg24892Thr)
c.48569G>C (p.Arg16190Thr)
c.48428G>C (p.Arg16143Thr)
c.74471G>C (p.Arg24824Thr)
c.69869G>C (p.Arg23290Thr)
c.69866G>C (p.Arg23289Thr)
c.66908G>C (p.Arg22303Thr)
c.48524G>C (p.Arg16175Thr)
c.70019G>C (p.Arg23340Thr)
c.70016G>C (p.Arg23339Thr)
c.69449G>C (p.Arg23150Thr)
c.66791G>C (p.Arg22264Thr)
c.66710G>C (p.Arg22237Thr)
c.48473G>C (p.Arg16158Thr)
c.38327G>C (p.Arg12776Thr)
2g.178570554C>TCA349621854TTN,TTN-AS1c.67874G>A (p.Arg22625Lys)
c.48959G>A (p.Arg16320Lys)
c.48758G>A (p.Arg16253Lys)
c.48383G>A (p.Arg16128Lys)
c.75578G>A (p.Arg25193Lys)
c.70655G>A (p.Arg23552Lys)
n.447-746C>T
n.2044-12018C>T
c.74675G>A (p.Arg24892Lys)
c.48569G>A (p.Arg16190Lys)
c.48428G>A (p.Arg16143Lys)
c.74471G>A (p.Arg24824Lys)
c.69869G>A (p.Arg23290Lys)
c.69866G>A (p.Arg23289Lys)
c.66908G>A (p.Arg22303Lys)
c.48524G>A (p.Arg16175Lys)
c.70019G>A (p.Arg23340Lys)
c.70016G>A (p.Arg23339Lys)
c.69449G>A (p.Arg23150Lys)
c.66791G>A (p.Arg22264Lys)
c.66710G>A (p.Arg22237Lys)
c.48473G>A (p.Arg16158Lys)
c.38327G>A (p.Arg12776Lys)
2g.178570555T>ACA349621856TTN,TTN-AS1c.67873A>T (p.Arg22625Ter)
c.48958A>T (p.Arg16320Ter)
c.48757A>T (p.Arg16253Ter)
c.48382A>T (p.Arg16128Ter)
c.75577A>T (p.Arg25193Ter)
c.70654A>T (p.Arg23552Ter)
n.447-745T>A
n.2044-12017T>A
c.74674A>T (p.Arg24892Ter)
c.48568A>T (p.Arg16190Ter)
c.48427A>T (p.Arg16143Ter)
c.74470A>T (p.Arg24824Ter)
c.69868A>T (p.Arg23290Ter)
c.69865A>T (p.Arg23289Ter)
c.66907A>T (p.Arg22303Ter)
c.48523A>T (p.Arg16175Ter)
c.70018A>T (p.Arg23340Ter)
c.70015A>T (p.Arg23339Ter)
c.69448A>T (p.Arg23150Ter)
c.66790A>T (p.Arg22264Ter)
c.66709A>T (p.Arg22237Ter)
c.48472A>T (p.Arg16158Ter)
c.38326A>T (p.Arg12776Ter)
2g.178570555T>CCA349621858TTN,TTN-AS1c.67873A>G (p.Arg22625Gly)
c.48958A>G (p.Arg16320Gly)
c.48757A>G (p.Arg16253Gly)
c.48382A>G (p.Arg16128Gly)
c.75577A>G (p.Arg25193Gly)
c.70654A>G (p.Arg23552Gly)
n.447-745T>C
n.2044-12017T>C
c.74674A>G (p.Arg24892Gly)
c.48568A>G (p.Arg16190Gly)
c.48427A>G (p.Arg16143Gly)
c.74470A>G (p.Arg24824Gly)
c.69868A>G (p.Arg23290Gly)
c.69865A>G (p.Arg23289Gly)
c.66907A>G (p.Arg22303Gly)
c.48523A>G (p.Arg16175Gly)
c.70018A>G (p.Arg23340Gly)
c.70015A>G (p.Arg23339Gly)
c.69448A>G (p.Arg23150Gly)
c.66790A>G (p.Arg22264Gly)
c.66709A>G (p.Arg22237Gly)
c.48472A>G (p.Arg16158Gly)
c.38326A>G (p.Arg12776Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.178570555T>GCA430254906TTN,TTN-AS1c.67873A>C (p.Arg22625=)
c.48958A>C (p.Arg16320=)
c.48757A>C (p.Arg16253=)
c.48382A>C (p.Arg16128=)
c.75577A>C (p.Arg25193=)
c.70654A>C (p.Arg23552=)
n.447-745T>G
n.2044-12017T>G
c.74674A>C (p.Arg24892=)
c.48568A>C (p.Arg16190=)
c.48427A>C (p.Arg16143=)
c.74470A>C (p.Arg24824=)
c.69868A>C (p.Arg23290=)
c.69865A>C (p.Arg23289=)
c.66907A>C (p.Arg22303=)
c.48523A>C (p.Arg16175=)
c.70018A>C (p.Arg23340=)
c.70015A>C (p.Arg23339=)
c.69448A>C (p.Arg23150=)
c.66790A>C (p.Arg22264=)
c.66709A>C (p.Arg22237=)
c.48472A>C (p.Arg16158=)
c.38326A>C (p.Arg12776=)
2g.178570555T=CA1310531150TTN,TTN-AS1c.67873A= (p.Arg22625=)
c.48958A= (p.Arg16320=)
c.48757A= (p.Arg16253=)
c.48382A= (p.Arg16128=)
c.75577A= (p.Arg25193=)
c.70654A= (p.Arg23552=)
n.447-745T=
n.2044-12017T=
c.74674A= (p.Arg24892=)
c.48568A= (p.Arg16190=)
c.48427A= (p.Arg16143=)
c.74470A= (p.Arg24824=)
c.69868A= (p.Arg23290=)
c.69865A= (p.Arg23289=)
c.66907A= (p.Arg22303=)
c.48523A= (p.Arg16175=)
c.70018A= (p.Arg23340=)
c.70015A= (p.Arg23339=)
c.69448A= (p.Arg23150=)
c.66790A= (p.Arg22264=)
c.66709A= (p.Arg22237=)
c.48472A= (p.Arg16158=)
c.38326A= (p.Arg12776=)
2g.178570556T>ACA349621862TTN,TTN-AS1c.67872A>T (p.Glu22624Asp)
c.48957A>T (p.Glu16319Asp)
c.48756A>T (p.Glu16252Asp)
c.48381A>T (p.Glu16127Asp)
c.75576A>T (p.Glu25192Asp)
c.70653A>T (p.Glu23551Asp)
n.447-744T>A
n.2044-12016T>A
c.74673A>T (p.Glu24891Asp)
c.48567A>T (p.Glu16189Asp)
c.48426A>T (p.Glu16142Asp)
c.74469A>T (p.Glu24823Asp)
c.69867A>T (p.Glu23289Asp)
c.69864A>T (p.Glu23288Asp)
c.66906A>T (p.Glu22302Asp)
c.48522A>T (p.Glu16174Asp)
c.70017A>T (p.Glu23339Asp)
c.70014A>T (p.Glu23338Asp)
c.69447A>T (p.Glu23149Asp)
c.66789A>T (p.Glu22263Asp)
c.66708A>T (p.Glu22236Asp)
c.48471A>T (p.Glu16157Asp)
c.38325A>T (p.Glu12775Asp)
2g.178570556T>CCA430254907TTN,TTN-AS1c.67872A>G (p.Glu22624=)
c.48957A>G (p.Glu16319=)
c.48756A>G (p.Glu16252=)
c.48381A>G (p.Glu16127=)
c.75576A>G (p.Glu25192=)
c.70653A>G (p.Glu23551=)
n.447-744T>C
n.2044-12016T>C
c.74673A>G (p.Glu24891=)
c.48567A>G (p.Glu16189=)
c.48426A>G (p.Glu16142=)
c.74469A>G (p.Glu24823=)
c.69867A>G (p.Glu23289=)
c.69864A>G (p.Glu23288=)
c.66906A>G (p.Glu22302=)
c.48522A>G (p.Glu16174=)
c.70017A>G (p.Glu23339=)
c.70014A>G (p.Glu23338=)
c.69447A>G (p.Glu23149=)
c.66789A>G (p.Glu22263=)
c.66708A>G (p.Glu22236=)
c.48471A>G (p.Glu16157=)
c.38325A>G (p.Glu12775=)
2g.178570556T>GCA349621864TTN,TTN-AS1c.67872A>C (p.Glu22624Asp)
c.48957A>C (p.Glu16319Asp)
c.48756A>C (p.Glu16252Asp)
c.48381A>C (p.Glu16127Asp)
c.75576A>C (p.Glu25192Asp)
c.70653A>C (p.Glu23551Asp)
n.447-744T>G
n.2044-12016T>G
c.74673A>C (p.Glu24891Asp)
c.48567A>C (p.Glu16189Asp)
c.48426A>C (p.Glu16142Asp)
c.74469A>C (p.Glu24823Asp)
c.69867A>C (p.Glu23289Asp)
c.69864A>C (p.Glu23288Asp)
c.66906A>C (p.Glu22302Asp)
c.48522A>C (p.Glu16174Asp)
c.70017A>C (p.Glu23339Asp)
c.70014A>C (p.Glu23338Asp)
c.69447A>C (p.Glu23149Asp)
c.66789A>C (p.Glu22263Asp)
c.66708A>C (p.Glu22236Asp)
c.48471A>C (p.Glu16157Asp)
c.38325A>C (p.Glu12775Asp)
2g.178570557T>ACA349621867TTN,TTN-AS1c.67871A>T (p.Glu22624Val)
c.48956A>T (p.Glu16319Val)
c.48755A>T (p.Glu16252Val)
c.48380A>T (p.Glu16127Val)
c.75575A>T (p.Glu25192Val)
c.70652A>T (p.Glu23551Val)
n.447-743T>A
n.2044-12015T>A
c.74672A>T (p.Glu24891Val)
c.48566A>T (p.Glu16189Val)
c.48425A>T (p.Glu16142Val)
c.74468A>T (p.Glu24823Val)
c.69866A>T (p.Glu23289Val)
c.69863A>T (p.Glu23288Val)
c.66905A>T (p.Glu22302Val)
c.48521A>T (p.Glu16174Val)
c.70016A>T (p.Glu23339Val)
c.70013A>T (p.Glu23338Val)
c.69446A>T (p.Glu23149Val)
c.66788A>T (p.Glu22263Val)
c.66707A>T (p.Glu22236Val)
c.48470A>T (p.Glu16157Val)
c.38324A>T (p.Glu12775Val)
2g.178570557T>CCA60995088TTN,TTN-AS1c.67871A>G (p.Glu22624Gly)
c.48956A>G (p.Glu16319Gly)
c.48755A>G (p.Glu16252Gly)
c.48380A>G (p.Glu16127Gly)
c.75575A>G (p.Glu25192Gly)
c.70652A>G (p.Glu23551Gly)
n.447-743T>C
n.2044-12015T>C
c.74672A>G (p.Glu24891Gly)
c.48566A>G (p.Glu16189Gly)
c.48425A>G (p.Glu16142Gly)
c.74468A>G (p.Glu24823Gly)
c.69866A>G (p.Glu23289Gly)
c.69863A>G (p.Glu23288Gly)
c.66905A>G (p.Glu22302Gly)
c.48521A>G (p.Glu16174Gly)
c.70016A>G (p.Glu23339Gly)
c.70013A>G (p.Glu23338Gly)
c.69446A>G (p.Glu23149Gly)
c.66788A>G (p.Glu22263Gly)
c.66707A>G (p.Glu22236Gly)
c.48470A>G (p.Glu16157Gly)
c.38324A>G (p.Glu12775Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.178570557T>GCA349621870TTN,TTN-AS1c.67871A>C (p.Glu22624Ala)
c.48956A>C (p.Glu16319Ala)
c.48755A>C (p.Glu16252Ala)
c.48380A>C (p.Glu16127Ala)
c.75575A>C (p.Glu25192Ala)
c.70652A>C (p.Glu23551Ala)
n.447-743T>G
n.2044-12015T>G
c.74672A>C (p.Glu24891Ala)
c.48566A>C (p.Glu16189Ala)
c.48425A>C (p.Glu16142Ala)
c.74468A>C (p.Glu24823Ala)
c.69866A>C (p.Glu23289Ala)
c.69863A>C (p.Glu23288Ala)
c.66905A>C (p.Glu22302Ala)
c.48521A>C (p.Glu16174Ala)
c.70016A>C (p.Glu23339Ala)
c.70013A>C (p.Glu23338Ala)
c.69446A>C (p.Glu23149Ala)
c.66788A>C (p.Glu22263Ala)
c.66707A>C (p.Glu22236Ala)
c.48470A>C (p.Glu16157Ala)
c.38324A>C (p.Glu12775Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.178570557T=CA1310531151TTN,TTN-AS1c.67871A= (p.Glu22624=)
c.48956A= (p.Glu16319=)
c.48755A= (p.Glu16252=)
c.48380A= (p.Glu16127=)
c.75575A= (p.Glu25192=)
c.70652A= (p.Glu23551=)
n.447-743T=
n.2044-12015T=
c.74672A= (p.Glu24891=)
c.48566A= (p.Glu16189=)
c.48425A= (p.Glu16142=)
c.74468A= (p.Glu24823=)
c.69866A= (p.Glu23289=)
c.69863A= (p.Glu23288=)
c.66905A= (p.Glu22302=)
c.48521A= (p.Glu16174=)
c.70016A= (p.Glu23339=)
c.70013A= (p.Glu23338=)
c.69446A= (p.Glu23149=)
c.66788A= (p.Glu22263=)
c.66707A= (p.Glu22236=)
c.48470A= (p.Glu16157=)
c.38324A= (p.Glu12775=)
2g.178570558C>ACA349621871TTN,TTN-AS1c.67870G>T (p.Glu22624Ter)
c.48955G>T (p.Glu16319Ter)
c.48754G>T (p.Glu16252Ter)
c.48379G>T (p.Glu16127Ter)
c.75574G>T (p.Glu25192Ter)
c.70651G>T (p.Glu23551Ter)
n.447-742C>A
n.2044-12014C>A
c.74671G>T (p.Glu24891Ter)
c.48565G>T (p.Glu16189Ter)
c.48424G>T (p.Glu16142Ter)
c.74467G>T (p.Glu24823Ter)
c.69865G>T (p.Glu23289Ter)
c.69862G>T (p.Glu23288Ter)
c.66904G>T (p.Glu22302Ter)
c.48520G>T (p.Glu16174Ter)
c.70015G>T (p.Glu23339Ter)
c.70012G>T (p.Glu23338Ter)
c.69445G>T (p.Glu23149Ter)
c.66787G>T (p.Glu22263Ter)
c.66706G>T (p.Glu22236Ter)
c.48469G>T (p.Glu16157Ter)
c.38323G>T (p.Glu12775Ter)
2g.178570558C>GCA349621874TTN,TTN-AS1c.67870G>C (p.Glu22624Gln)
c.48955G>C (p.Glu16319Gln)
c.48754G>C (p.Glu16252Gln)
c.48379G>C (p.Glu16127Gln)
c.75574G>C (p.Glu25192Gln)
c.70651G>C (p.Glu23551Gln)
n.447-742C>G
n.2044-12014C>G
c.74671G>C (p.Glu24891Gln)
c.48565G>C (p.Glu16189Gln)
c.48424G>C (p.Glu16142Gln)
c.74467G>C (p.Glu24823Gln)
c.69865G>C (p.Glu23289Gln)
c.69862G>C (p.Glu23288Gln)
c.66904G>C (p.Glu22302Gln)
c.48520G>C (p.Glu16174Gln)
c.70015G>C (p.Glu23339Gln)
c.70012G>C (p.Glu23338Gln)
c.69445G>C (p.Glu23149Gln)
c.66787G>C (p.Glu22263Gln)
c.66706G>C (p.Glu22236Gln)
c.48469G>C (p.Glu16157Gln)
c.38323G>C (p.Glu12775Gln)
2g.178570558C>TCA349621876TTN,TTN-AS1c.67870G>A (p.Glu22624Lys)
c.48955G>A (p.Glu16319Lys)
c.48754G>A (p.Glu16252Lys)
c.48379G>A (p.Glu16127Lys)
c.75574G>A (p.Glu25192Lys)
c.70651G>A (p.Glu23551Lys)
n.447-742C>T
n.2044-12014C>T
c.74671G>A (p.Glu24891Lys)
c.48565G>A (p.Glu16189Lys)
c.48424G>A (p.Glu16142Lys)
c.74467G>A (p.Glu24823Lys)
c.69865G>A (p.Glu23289Lys)
c.69862G>A (p.Glu23288Lys)
c.66904G>A (p.Glu22302Lys)
c.48520G>A (p.Glu16174Lys)
c.70015G>A (p.Glu23339Lys)
c.70012G>A (p.Glu23338Lys)
c.69445G>A (p.Glu23149Lys)
c.66787G>A (p.Glu22263Lys)
c.66706G>A (p.Glu22236Lys)
c.48469G>A (p.Glu16157Lys)
c.38323G>A (p.Glu12775Lys)
 COSMIC COSMIC COSMIC COSMIC
2g.178570559T>ACA430254908TTN,TTN-AS1c.67869A>T (p.Gly22623=)
c.48954A>T (p.Gly16318=)
c.48753A>T (p.Gly16251=)
c.48378A>T (p.Gly16126=)
c.75573A>T (p.Gly25191=)
c.70650A>T (p.Gly23550=)
n.447-741T>A
n.2044-12013T>A
c.74670A>T (p.Gly24890=)
c.48564A>T (p.Gly16188=)
c.48423A>T (p.Gly16141=)
c.74466A>T (p.Gly24822=)
c.69864A>T (p.Gly23288=)
c.69861A>T (p.Gly23287=)
c.66903A>T (p.Gly22301=)
c.48519A>T (p.Gly16173=)
c.70014A>T (p.Gly23338=)
c.70011A>T (p.Gly23337=)
c.69444A>T (p.Gly23148=)
c.66786A>T (p.Gly22262=)
c.66705A>T (p.Gly22235=)
c.48468A>T (p.Gly16156=)
c.38322A>T (p.Gly12774=)
2g.178570559T>CCA430254909TTN,TTN-AS1c.67869A>G (p.Gly22623=)
c.48954A>G (p.Gly16318=)
c.48753A>G (p.Gly16251=)
c.48378A>G (p.Gly16126=)
c.75573A>G (p.Gly25191=)
c.70650A>G (p.Gly23550=)
n.447-741T>C
n.2044-12013T>C
c.74670A>G (p.Gly24890=)
c.48564A>G (p.Gly16188=)
c.48423A>G (p.Gly16141=)
c.74466A>G (p.Gly24822=)
c.69864A>G (p.Gly23288=)
c.69861A>G (p.Gly23287=)
c.66903A>G (p.Gly22301=)
c.48519A>G (p.Gly16173=)
c.70014A>G (p.Gly23338=)
c.70011A>G (p.Gly23337=)
c.69444A>G (p.Gly23148=)
c.66786A>G (p.Gly22262=)
c.66705A>G (p.Gly22235=)
c.48468A>G (p.Gly16156=)
c.38322A>G (p.Gly12774=)
2g.178570559T>GCA430254910TTN,TTN-AS1c.67869A>C (p.Gly22623=)
c.48954A>C (p.Gly16318=)
c.48753A>C (p.Gly16251=)
c.48378A>C (p.Gly16126=)
c.75573A>C (p.Gly25191=)
c.70650A>C (p.Gly23550=)
n.447-741T>G
n.2044-12013T>G
c.74670A>C (p.Gly24890=)
c.48564A>C (p.Gly16188=)
c.48423A>C (p.Gly16141=)
c.74466A>C (p.Gly24822=)
c.69864A>C (p.Gly23288=)
c.69861A>C (p.Gly23287=)
c.66903A>C (p.Gly22301=)
c.48519A>C (p.Gly16173=)
c.70014A>C (p.Gly23338=)
c.70011A>C (p.Gly23337=)
c.69444A>C (p.Gly23148=)
c.66786A>C (p.Gly22262=)
c.66705A>C (p.Gly22235=)
c.48468A>C (p.Gly16156=)
c.38322A>C (p.Gly12774=)
2g.178570560C>ACA1990024TTN,TTN-AS1c.67868G>T (p.Gly22623Val)
c.48953G>T (p.Gly16318Val)
c.48752G>T (p.Gly16251Val)
c.48377G>T (p.Gly16126Val)
c.75572G>T (p.Gly25191Val)
c.70649G>T (p.Gly23550Val)
n.447-740C>A
n.2044-12012C>A
c.74669G>T (p.Gly24890Val)
c.48563G>T (p.Gly16188Val)
c.48422G>T (p.Gly16141Val)
c.74465G>T (p.Gly24822Val)
c.69863G>T (p.Gly23288Val)
c.69860G>T (p.Gly23287Val)
c.66902G>T (p.Gly22301Val)
c.48518G>T (p.Gly16173Val)
c.70013G>T (p.Gly23338Val)
c.70010G>T (p.Gly23337Val)
c.69443G>T (p.Gly23148Val)
c.66785G>T (p.Gly22262Val)
c.66704G>T (p.Gly22235Val)
c.48467G>T (p.Gly16156Val)
c.38321G>T (p.Gly12774Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.178570560C=CA1310531152TTN,TTN-AS1c.67868G= (p.Gly22623=)
c.48953G= (p.Gly16318=)
c.48752G= (p.Gly16251=)
c.48377G= (p.Gly16126=)
c.75572G= (p.Gly25191=)
c.70649G= (p.Gly23550=)
n.447-740C=
n.2044-12012C=
c.74669G= (p.Gly24890=)
c.48563G= (p.Gly16188=)
c.48422G= (p.Gly16141=)
c.74465G= (p.Gly24822=)
c.69863G= (p.Gly23288=)
c.69860G= (p.Gly23287=)
c.66902G= (p.Gly22301=)
c.48518G= (p.Gly16173=)
c.70013G= (p.Gly23338=)
c.70010G= (p.Gly23337=)
c.69443G= (p.Gly23148=)
c.66785G= (p.Gly22262=)
c.66704G= (p.Gly22235=)
c.48467G= (p.Gly16156=)
c.38321G= (p.Gly12774=)
2g.178570560C>GCA1990023TTN,TTN-AS1c.67868G>C (p.Gly22623Ala)
c.48953G>C (p.Gly16318Ala)
c.48752G>C (p.Gly16251Ala)
c.48377G>C (p.Gly16126Ala)
c.75572G>C (p.Gly25191Ala)
c.70649G>C (p.Gly23550Ala)
n.447-740C>G
n.2044-12012C>G
c.74669G>C (p.Gly24890Ala)
c.48563G>C (p.Gly16188Ala)
c.48422G>C (p.Gly16141Ala)
c.74465G>C (p.Gly24822Ala)
c.69863G>C (p.Gly23288Ala)
c.69860G>C (p.Gly23287Ala)
c.66902G>C (p.Gly22301Ala)
c.48518G>C (p.Gly16173Ala)
c.70013G>C (p.Gly23338Ala)
c.70010G>C (p.Gly23337Ala)
c.69443G>C (p.Gly23148Ala)
c.66785G>C (p.Gly22262Ala)
c.66704G>C (p.Gly22235Ala)
c.48467G>C (p.Gly16156Ala)
c.38321G>C (p.Gly12774Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178570560C>TCA1990022TTN,TTN-AS1c.67868G>A (p.Gly22623Glu)
c.48953G>A (p.Gly16318Glu)
c.48752G>A (p.Gly16251Glu)
c.48377G>A (p.Gly16126Glu)
c.75572G>A (p.Gly25191Glu)
c.70649G>A (p.Gly23550Glu)
n.447-740C>T
n.2044-12012C>T
c.74669G>A (p.Gly24890Glu)
c.48563G>A (p.Gly16188Glu)
c.48422G>A (p.Gly16141Glu)
c.74465G>A (p.Gly24822Glu)
c.69863G>A (p.Gly23288Glu)
c.69860G>A (p.Gly23287Glu)
c.66902G>A (p.Gly22301Glu)
c.48518G>A (p.Gly16173Glu)
c.70013G>A (p.Gly23338Glu)
c.70010G>A (p.Gly23337Glu)
c.69443G>A (p.Gly23148Glu)
c.66785G>A (p.Gly22262Glu)
c.66704G>A (p.Gly22235Glu)
c.48467G>A (p.Gly16156Glu)
c.38321G>A (p.Gly12774Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178570561C>ACA349621885TTN,TTN-AS1c.67867G>T (p.Gly22623Ter)
c.48952G>T (p.Gly16318Ter)
c.48751G>T (p.Gly16251Ter)
c.48376G>T (p.Gly16126Ter)
c.75571G>T (p.Gly25191Ter)
c.70648G>T (p.Gly23550Ter)
n.447-739C>A
n.2044-12011C>A
c.74668G>T (p.Gly24890Ter)
c.48562G>T (p.Gly16188Ter)
c.48421G>T (p.Gly16141Ter)
c.74464G>T (p.Gly24822Ter)
c.69862G>T (p.Gly23288Ter)
c.69859G>T (p.Gly23287Ter)
c.66901G>T (p.Gly22301Ter)
c.48517G>T (p.Gly16173Ter)
c.70012G>T (p.Gly23338Ter)
c.70009G>T (p.Gly23337Ter)
c.69442G>T (p.Gly23148Ter)
c.66784G>T (p.Gly22262Ter)
c.66703G>T (p.Gly22235Ter)
c.48466G>T (p.Gly16156Ter)
c.38320G>T (p.Gly12774Ter)
2g.178570561C=CA1310531153TTN,TTN-AS1c.67867G= (p.Gly22623=)
c.48952G= (p.Gly16318=)
c.48751G= (p.Gly16251=)
c.48376G= (p.Gly16126=)
c.75571G= (p.Gly25191=)
c.70648G= (p.Gly23550=)
n.447-739C=
n.2044-12011C=
c.74668G= (p.Gly24890=)
c.48562G= (p.Gly16188=)
c.48421G= (p.Gly16141=)
c.74464G= (p.Gly24822=)
c.69862G= (p.Gly23288=)
c.69859G= (p.Gly23287=)
c.66901G= (p.Gly22301=)
c.48517G= (p.Gly16173=)
c.70012G= (p.Gly23338=)
c.70009G= (p.Gly23337=)
c.69442G= (p.Gly23148=)
c.66784G= (p.Gly22262=)
c.66703G= (p.Gly22235=)
c.48466G= (p.Gly16156=)
c.38320G= (p.Gly12774=)

Number of alleles fetched