| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178614738A= | CA1310549491 | TTN,TTN-AS1 | c.41072T= (p.Phe13691=) c.22157T= (p.Phe7386=) c.21956T= (p.Phe7319=) c.21581T= (p.Phe7194=) c.48776T= (p.Phe16259=) c.43853T= (p.Phe14618=) n.1486A= c.47873T= (p.Phe15958=) c.21767T= (p.Phe7256=) c.21626T= (p.Phe7209=) c.47669T= (p.Phe15890=) c.43067T= (p.Phe14356=) c.43064T= (p.Phe14355=) c.40106T= (p.Phe13369=) c.21722T= (p.Phe7241=) c.43217T= (p.Phe14406=) c.43214T= (p.Phe14405=) c.42647T= (p.Phe14216=) c.39989T= (p.Phe13330=) c.39908T= (p.Phe13303=) c.21671T= (p.Phe7224=) c.11525T= (p.Phe3842=) | |
| 2 | g.178614738A>C | CA349608025 | TTN,TTN-AS1 | c.41072T>G (p.Phe13691Cys) c.22157T>G (p.Phe7386Cys) c.21956T>G (p.Phe7319Cys) c.21581T>G (p.Phe7194Cys) c.48776T>G (p.Phe16259Cys) c.43853T>G (p.Phe14618Cys) n.1486A>C c.47873T>G (p.Phe15958Cys) c.21767T>G (p.Phe7256Cys) c.21626T>G (p.Phe7209Cys) c.47669T>G (p.Phe15890Cys) c.43067T>G (p.Phe14356Cys) c.43064T>G (p.Phe14355Cys) c.40106T>G (p.Phe13369Cys) c.21722T>G (p.Phe7241Cys) c.43217T>G (p.Phe14406Cys) c.43214T>G (p.Phe14405Cys) c.42647T>G (p.Phe14216Cys) c.39989T>G (p.Phe13330Cys) c.39908T>G (p.Phe13303Cys) c.21671T>G (p.Phe7224Cys) c.11525T>G (p.Phe3842Cys) | |
| 2 | g.178614738A>G | CA60987756 | TTN,TTN-AS1 | c.41072T>C (p.Phe13691Ser) c.22157T>C (p.Phe7386Ser) c.21956T>C (p.Phe7319Ser) c.21581T>C (p.Phe7194Ser) c.48776T>C (p.Phe16259Ser) c.43853T>C (p.Phe14618Ser) n.1486A>G c.47873T>C (p.Phe15958Ser) c.21767T>C (p.Phe7256Ser) c.21626T>C (p.Phe7209Ser) c.47669T>C (p.Phe15890Ser) c.43067T>C (p.Phe14356Ser) c.43064T>C (p.Phe14355Ser) c.40106T>C (p.Phe13369Ser) c.21722T>C (p.Phe7241Ser) c.43217T>C (p.Phe14406Ser) c.43214T>C (p.Phe14405Ser) c.42647T>C (p.Phe14216Ser) c.39989T>C (p.Phe13330Ser) c.39908T>C (p.Phe13303Ser) c.21671T>C (p.Phe7224Ser) c.11525T>C (p.Phe3842Ser) | dbSNP |
| 2 | g.178614738A>T | CA349608027 | TTN,TTN-AS1 | c.41072T>A (p.Phe13691Tyr) c.22157T>A (p.Phe7386Tyr) c.21956T>A (p.Phe7319Tyr) c.21581T>A (p.Phe7194Tyr) c.48776T>A (p.Phe16259Tyr) c.43853T>A (p.Phe14618Tyr) n.1486A>T c.47873T>A (p.Phe15958Tyr) c.21767T>A (p.Phe7256Tyr) c.21626T>A (p.Phe7209Tyr) c.47669T>A (p.Phe15890Tyr) c.43067T>A (p.Phe14356Tyr) c.43064T>A (p.Phe14355Tyr) c.40106T>A (p.Phe13369Tyr) c.21722T>A (p.Phe7241Tyr) c.43217T>A (p.Phe14406Tyr) c.43214T>A (p.Phe14405Tyr) c.42647T>A (p.Phe14216Tyr) c.39989T>A (p.Phe13330Tyr) c.39908T>A (p.Phe13303Tyr) c.21671T>A (p.Phe7224Tyr) c.11525T>A (p.Phe3842Tyr) | |
| 2 | g.178614739A>C | CA349608028 | TTN,TTN-AS1 | c.41071T>G (p.Phe13691Val) c.22156T>G (p.Phe7386Val) c.21955T>G (p.Phe7319Val) c.21580T>G (p.Phe7194Val) c.48775T>G (p.Phe16259Val) c.43852T>G (p.Phe14618Val) n.1487A>C c.47872T>G (p.Phe15958Val) c.21766T>G (p.Phe7256Val) c.21625T>G (p.Phe7209Val) c.47668T>G (p.Phe15890Val) c.43066T>G (p.Phe14356Val) c.43063T>G (p.Phe14355Val) c.40105T>G (p.Phe13369Val) c.21721T>G (p.Phe7241Val) c.43216T>G (p.Phe14406Val) c.43213T>G (p.Phe14405Val) c.42646T>G (p.Phe14216Val) c.39988T>G (p.Phe13330Val) c.39907T>G (p.Phe13303Val) c.21670T>G (p.Phe7224Val) c.11524T>G (p.Phe3842Val) | |
| 2 | g.178614739A>G | CA349608030 | TTN,TTN-AS1 | c.41071T>C (p.Phe13691Leu) c.22156T>C (p.Phe7386Leu) c.21955T>C (p.Phe7319Leu) c.21580T>C (p.Phe7194Leu) c.48775T>C (p.Phe16259Leu) c.43852T>C (p.Phe14618Leu) n.1487A>G c.47872T>C (p.Phe15958Leu) c.21766T>C (p.Phe7256Leu) c.21625T>C (p.Phe7209Leu) c.47668T>C (p.Phe15890Leu) c.43066T>C (p.Phe14356Leu) c.43063T>C (p.Phe14355Leu) c.40105T>C (p.Phe13369Leu) c.21721T>C (p.Phe7241Leu) c.43216T>C (p.Phe14406Leu) c.43213T>C (p.Phe14405Leu) c.42646T>C (p.Phe14216Leu) c.39988T>C (p.Phe13330Leu) c.39907T>C (p.Phe13303Leu) c.21670T>C (p.Phe7224Leu) c.11524T>C (p.Phe3842Leu) | |
| 2 | g.178614739A>T | CA349608031 | TTN,TTN-AS1 | c.41071T>A (p.Phe13691Ile) c.22156T>A (p.Phe7386Ile) c.21955T>A (p.Phe7319Ile) c.21580T>A (p.Phe7194Ile) c.48775T>A (p.Phe16259Ile) c.43852T>A (p.Phe14618Ile) n.1487A>T c.47872T>A (p.Phe15958Ile) c.21766T>A (p.Phe7256Ile) c.21625T>A (p.Phe7209Ile) c.47668T>A (p.Phe15890Ile) c.43066T>A (p.Phe14356Ile) c.43063T>A (p.Phe14355Ile) c.40105T>A (p.Phe13369Ile) c.21721T>A (p.Phe7241Ile) c.43216T>A (p.Phe14406Ile) c.43213T>A (p.Phe14405Ile) c.42646T>A (p.Phe14216Ile) c.39988T>A (p.Phe13330Ile) c.39907T>A (p.Phe13303Ile) c.21670T>A (p.Phe7224Ile) c.11524T>A (p.Phe3842Ile) | |
| 2 | g.178614740G>A | CA430104086 | TTN,TTN-AS1 | c.41070C>T (p.Ile13690=) c.22155C>T (p.Ile7385=) c.21954C>T (p.Ile7318=) c.21579C>T (p.Ile7193=) c.48774C>T (p.Ile16258=) c.43851C>T (p.Ile14617=) n.1488G>A c.47871C>T (p.Ile15957=) c.21765C>T (p.Ile7255=) c.21624C>T (p.Ile7208=) c.47667C>T (p.Ile15889=) c.43065C>T (p.Ile14355=) c.43062C>T (p.Ile14354=) c.40104C>T (p.Ile13368=) c.21720C>T (p.Ile7240=) c.43215C>T (p.Ile14405=) c.43212C>T (p.Ile14404=) c.42645C>T (p.Ile14215=) c.39987C>T (p.Ile13329=) c.39906C>T (p.Ile13302=) c.21669C>T (p.Ile7223=) c.11523C>T (p.Ile3841=) | |
| 2 | g.178614740G>C | CA349608034 | TTN,TTN-AS1 | c.41070C>G (p.Ile13690Met) c.22155C>G (p.Ile7385Met) c.21954C>G (p.Ile7318Met) c.21579C>G (p.Ile7193Met) c.48774C>G (p.Ile16258Met) c.43851C>G (p.Ile14617Met) n.1488G>C c.47871C>G (p.Ile15957Met) c.21765C>G (p.Ile7255Met) c.21624C>G (p.Ile7208Met) c.47667C>G (p.Ile15889Met) c.43065C>G (p.Ile14355Met) c.43062C>G (p.Ile14354Met) c.40104C>G (p.Ile13368Met) c.21720C>G (p.Ile7240Met) c.43215C>G (p.Ile14405Met) c.43212C>G (p.Ile14404Met) c.42645C>G (p.Ile14215Met) c.39987C>G (p.Ile13329Met) c.39906C>G (p.Ile13302Met) c.21669C>G (p.Ile7223Met) c.11523C>G (p.Ile3841Met) | |
| 2 | g.178614740G= | CA1310549492 | TTN,TTN-AS1 | c.41070C= (p.Ile13690=) c.22155C= (p.Ile7385=) c.21954C= (p.Ile7318=) c.21579C= (p.Ile7193=) c.48774C= (p.Ile16258=) c.43851C= (p.Ile14617=) n.1488G= c.47871C= (p.Ile15957=) c.21765C= (p.Ile7255=) c.21624C= (p.Ile7208=) c.47667C= (p.Ile15889=) c.43065C= (p.Ile14355=) c.43062C= (p.Ile14354=) c.40104C= (p.Ile13368=) c.21720C= (p.Ile7240=) c.43215C= (p.Ile14405=) c.43212C= (p.Ile14404=) c.42645C= (p.Ile14215=) c.39987C= (p.Ile13329=) c.39906C= (p.Ile13302=) c.21669C= (p.Ile7223=) c.11523C= (p.Ile3841=) | |
| 2 | g.178614740G>T | CA1994745 | TTN,TTN-AS1 | c.41070C>A (p.Ile13690=) c.22155C>A (p.Ile7385=) c.21954C>A (p.Ile7318=) c.21579C>A (p.Ile7193=) c.48774C>A (p.Ile16258=) c.43851C>A (p.Ile14617=) n.1488G>T c.47871C>A (p.Ile15957=) c.21765C>A (p.Ile7255=) c.21624C>A (p.Ile7208=) c.47667C>A (p.Ile15889=) c.43065C>A (p.Ile14355=) c.43062C>A (p.Ile14354=) c.40104C>A (p.Ile13368=) c.21720C>A (p.Ile7240=) c.43215C>A (p.Ile14405=) c.43212C>A (p.Ile14404=) c.42645C>A (p.Ile14215=) c.39987C>A (p.Ile13329=) c.39906C>A (p.Ile13302=) c.21669C>A (p.Ile7223=) c.11523C>A (p.Ile3841=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178614741A>C | CA349608035 | TTN,TTN-AS1 | c.41069T>G (p.Ile13690Ser) c.22154T>G (p.Ile7385Ser) c.21953T>G (p.Ile7318Ser) c.21578T>G (p.Ile7193Ser) c.48773T>G (p.Ile16258Ser) c.43850T>G (p.Ile14617Ser) n.1489A>C c.47870T>G (p.Ile15957Ser) c.21764T>G (p.Ile7255Ser) c.21623T>G (p.Ile7208Ser) c.47666T>G (p.Ile15889Ser) c.43064T>G (p.Ile14355Ser) c.43061T>G (p.Ile14354Ser) c.40103T>G (p.Ile13368Ser) c.21719T>G (p.Ile7240Ser) c.43214T>G (p.Ile14405Ser) c.43211T>G (p.Ile14404Ser) c.42644T>G (p.Ile14215Ser) c.39986T>G (p.Ile13329Ser) c.39905T>G (p.Ile13302Ser) c.21668T>G (p.Ile7223Ser) c.11522T>G (p.Ile3841Ser) | |
| 2 | g.178614741A>G | CA349608039 | TTN,TTN-AS1 | c.41069T>C (p.Ile13690Thr) c.22154T>C (p.Ile7385Thr) c.21953T>C (p.Ile7318Thr) c.21578T>C (p.Ile7193Thr) c.48773T>C (p.Ile16258Thr) c.43850T>C (p.Ile14617Thr) n.1489A>G c.47870T>C (p.Ile15957Thr) c.21764T>C (p.Ile7255Thr) c.21623T>C (p.Ile7208Thr) c.47666T>C (p.Ile15889Thr) c.43064T>C (p.Ile14355Thr) c.43061T>C (p.Ile14354Thr) c.40103T>C (p.Ile13368Thr) c.21719T>C (p.Ile7240Thr) c.43214T>C (p.Ile14405Thr) c.43211T>C (p.Ile14404Thr) c.42644T>C (p.Ile14215Thr) c.39986T>C (p.Ile13329Thr) c.39905T>C (p.Ile13302Thr) c.21668T>C (p.Ile7223Thr) c.11522T>C (p.Ile3841Thr) | |
| 2 | g.178614741A>T | CA349608037 | TTN,TTN-AS1 | c.41069T>A (p.Ile13690Asn) c.22154T>A (p.Ile7385Asn) c.21953T>A (p.Ile7318Asn) c.21578T>A (p.Ile7193Asn) c.48773T>A (p.Ile16258Asn) c.43850T>A (p.Ile14617Asn) n.1489A>T c.47870T>A (p.Ile15957Asn) c.21764T>A (p.Ile7255Asn) c.21623T>A (p.Ile7208Asn) c.47666T>A (p.Ile15889Asn) c.43064T>A (p.Ile14355Asn) c.43061T>A (p.Ile14354Asn) c.40103T>A (p.Ile13368Asn) c.21719T>A (p.Ile7240Asn) c.43214T>A (p.Ile14405Asn) c.43211T>A (p.Ile14404Asn) c.42644T>A (p.Ile14215Asn) c.39986T>A (p.Ile13329Asn) c.39905T>A (p.Ile13302Asn) c.21668T>A (p.Ile7223Asn) c.11522T>A (p.Ile3841Asn) | |
| 2 | g.178614742T>A | CA349608041 | TTN,TTN-AS1 | c.41068A>T (p.Ile13690Phe) c.22153A>T (p.Ile7385Phe) c.21952A>T (p.Ile7318Phe) c.21577A>T (p.Ile7193Phe) c.48772A>T (p.Ile16258Phe) c.43849A>T (p.Ile14617Phe) n.1490T>A c.47869A>T (p.Ile15957Phe) c.21763A>T (p.Ile7255Phe) c.21622A>T (p.Ile7208Phe) c.47665A>T (p.Ile15889Phe) c.43063A>T (p.Ile14355Phe) c.43060A>T (p.Ile14354Phe) c.40102A>T (p.Ile13368Phe) c.21718A>T (p.Ile7240Phe) c.43213A>T (p.Ile14405Phe) c.43210A>T (p.Ile14404Phe) c.42643A>T (p.Ile14215Phe) c.39985A>T (p.Ile13329Phe) c.39904A>T (p.Ile13302Phe) c.21667A>T (p.Ile7223Phe) c.11521A>T (p.Ile3841Phe) | |
| 2 | g.178614742T>C | CA349608043 | TTN,TTN-AS1 | c.41068A>G (p.Ile13690Val) c.22153A>G (p.Ile7385Val) c.21952A>G (p.Ile7318Val) c.21577A>G (p.Ile7193Val) c.48772A>G (p.Ile16258Val) c.43849A>G (p.Ile14617Val) n.1490T>C c.47869A>G (p.Ile15957Val) c.21763A>G (p.Ile7255Val) c.21622A>G (p.Ile7208Val) c.47665A>G (p.Ile15889Val) c.43063A>G (p.Ile14355Val) c.43060A>G (p.Ile14354Val) c.40102A>G (p.Ile13368Val) c.21718A>G (p.Ile7240Val) c.43213A>G (p.Ile14405Val) c.43210A>G (p.Ile14404Val) c.42643A>G (p.Ile14215Val) c.39985A>G (p.Ile13329Val) c.39904A>G (p.Ile13302Val) c.21667A>G (p.Ile7223Val) c.11521A>G (p.Ile3841Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178614742T>G | CA349608045 | TTN,TTN-AS1 | c.41068A>C (p.Ile13690Leu) c.22153A>C (p.Ile7385Leu) c.21952A>C (p.Ile7318Leu) c.21577A>C (p.Ile7193Leu) c.48772A>C (p.Ile16258Leu) c.43849A>C (p.Ile14617Leu) n.1490T>G c.47869A>C (p.Ile15957Leu) c.21763A>C (p.Ile7255Leu) c.21622A>C (p.Ile7208Leu) c.47665A>C (p.Ile15889Leu) c.43063A>C (p.Ile14355Leu) c.43060A>C (p.Ile14354Leu) c.40102A>C (p.Ile13368Leu) c.21718A>C (p.Ile7240Leu) c.43213A>C (p.Ile14405Leu) c.43210A>C (p.Ile14404Leu) c.42643A>C (p.Ile14215Leu) c.39985A>C (p.Ile13329Leu) c.39904A>C (p.Ile13302Leu) c.21667A>C (p.Ile7223Leu) c.11521A>C (p.Ile3841Leu) | |
| 2 | g.178614743T>A | CA349608047 | TTN,TTN-AS1 | c.41067A>T (p.Glu13689Asp) c.22152A>T (p.Glu7384Asp) c.21951A>T (p.Glu7317Asp) c.21576A>T (p.Glu7192Asp) c.48771A>T (p.Glu16257Asp) c.43848A>T (p.Glu14616Asp) n.1491T>A c.47868A>T (p.Glu15956Asp) c.21762A>T (p.Glu7254Asp) c.21621A>T (p.Glu7207Asp) c.47664A>T (p.Glu15888Asp) c.43062A>T (p.Glu14354Asp) c.43059A>T (p.Glu14353Asp) c.40101A>T (p.Glu13367Asp) c.21717A>T (p.Glu7239Asp) c.43212A>T (p.Glu14404Asp) c.43209A>T (p.Glu14403Asp) c.42642A>T (p.Glu14214Asp) c.39984A>T (p.Glu13328Asp) c.39903A>T (p.Glu13301Asp) c.21666A>T (p.Glu7222Asp) c.11520A>T (p.Glu3840Asp) | |
| 2 | g.178614743T>C | CA430104090 | TTN,TTN-AS1 | c.41067A>G (p.Glu13689=) c.22152A>G (p.Glu7384=) c.21951A>G (p.Glu7317=) c.21576A>G (p.Glu7192=) c.48771A>G (p.Glu16257=) c.43848A>G (p.Glu14616=) n.1491T>C c.47868A>G (p.Glu15956=) c.21762A>G (p.Glu7254=) c.21621A>G (p.Glu7207=) c.47664A>G (p.Glu15888=) c.43062A>G (p.Glu14354=) c.43059A>G (p.Glu14353=) c.40101A>G (p.Glu13367=) c.21717A>G (p.Glu7239=) c.43212A>G (p.Glu14404=) c.43209A>G (p.Glu14403=) c.42642A>G (p.Glu14214=) c.39984A>G (p.Glu13328=) c.39903A>G (p.Glu13301=) c.21666A>G (p.Glu7222=) c.11520A>G (p.Glu3840=) | |
| 2 | g.178614743T>G | CA349608049 | TTN,TTN-AS1 | c.41067A>C (p.Glu13689Asp) c.22152A>C (p.Glu7384Asp) c.21951A>C (p.Glu7317Asp) c.21576A>C (p.Glu7192Asp) c.48771A>C (p.Glu16257Asp) c.43848A>C (p.Glu14616Asp) n.1491T>G c.47868A>C (p.Glu15956Asp) c.21762A>C (p.Glu7254Asp) c.21621A>C (p.Glu7207Asp) c.47664A>C (p.Glu15888Asp) c.43062A>C (p.Glu14354Asp) c.43059A>C (p.Glu14353Asp) c.40101A>C (p.Glu13367Asp) c.21717A>C (p.Glu7239Asp) c.43212A>C (p.Glu14404Asp) c.43209A>C (p.Glu14403Asp) c.42642A>C (p.Glu14214Asp) c.39984A>C (p.Glu13328Asp) c.39903A>C (p.Glu13301Asp) c.21666A>C (p.Glu7222Asp) c.11520A>C (p.Glu3840Asp) | |
| 2 | g.178614744T>A | CA349608051 | TTN,TTN-AS1 | c.41066A>T (p.Glu13689Val) c.22151A>T (p.Glu7384Val) c.21950A>T (p.Glu7317Val) c.21575A>T (p.Glu7192Val) c.48770A>T (p.Glu16257Val) c.43847A>T (p.Glu14616Val) n.1492T>A c.47867A>T (p.Glu15956Val) c.21761A>T (p.Glu7254Val) c.21620A>T (p.Glu7207Val) c.47663A>T (p.Glu15888Val) c.43061A>T (p.Glu14354Val) c.43058A>T (p.Glu14353Val) c.40100A>T (p.Glu13367Val) c.21716A>T (p.Glu7239Val) c.43211A>T (p.Glu14404Val) c.43208A>T (p.Glu14403Val) c.42641A>T (p.Glu14214Val) c.39983A>T (p.Glu13328Val) c.39902A>T (p.Glu13301Val) c.21665A>T (p.Glu7222Val) c.11519A>T (p.Glu3840Val) | |
| 2 | g.178614744T>C | CA349608052 | TTN,TTN-AS1 | c.41066A>G (p.Glu13689Gly) c.22151A>G (p.Glu7384Gly) c.21950A>G (p.Glu7317Gly) c.21575A>G (p.Glu7192Gly) c.48770A>G (p.Glu16257Gly) c.43847A>G (p.Glu14616Gly) n.1492T>C c.47867A>G (p.Glu15956Gly) c.21761A>G (p.Glu7254Gly) c.21620A>G (p.Glu7207Gly) c.47663A>G (p.Glu15888Gly) c.43061A>G (p.Glu14354Gly) c.43058A>G (p.Glu14353Gly) c.40100A>G (p.Glu13367Gly) c.21716A>G (p.Glu7239Gly) c.43211A>G (p.Glu14404Gly) c.43208A>G (p.Glu14403Gly) c.42641A>G (p.Glu14214Gly) c.39983A>G (p.Glu13328Gly) c.39902A>G (p.Glu13301Gly) c.21665A>G (p.Glu7222Gly) c.11519A>G (p.Glu3840Gly) | |
| 2 | g.178614744T>G | CA349608055 | TTN,TTN-AS1 | c.41066A>C (p.Glu13689Ala) c.22151A>C (p.Glu7384Ala) c.21950A>C (p.Glu7317Ala) c.21575A>C (p.Glu7192Ala) c.48770A>C (p.Glu16257Ala) c.43847A>C (p.Glu14616Ala) n.1492T>G c.47867A>C (p.Glu15956Ala) c.21761A>C (p.Glu7254Ala) c.21620A>C (p.Glu7207Ala) c.47663A>C (p.Glu15888Ala) c.43061A>C (p.Glu14354Ala) c.43058A>C (p.Glu14353Ala) c.40100A>C (p.Glu13367Ala) c.21716A>C (p.Glu7239Ala) c.43211A>C (p.Glu14404Ala) c.43208A>C (p.Glu14403Ala) c.42641A>C (p.Glu14214Ala) c.39983A>C (p.Glu13328Ala) c.39902A>C (p.Glu13301Ala) c.21665A>C (p.Glu7222Ala) c.11519A>C (p.Glu3840Ala) | |
| 2 | g.178614745C>A | CA349608057 | TTN,TTN-AS1 | c.41065G>T (p.Glu13689Ter) c.22150G>T (p.Glu7384Ter) c.21949G>T (p.Glu7317Ter) c.21574G>T (p.Glu7192Ter) c.48769G>T (p.Glu16257Ter) c.43846G>T (p.Glu14616Ter) n.1493C>A c.47866G>T (p.Glu15956Ter) c.21760G>T (p.Glu7254Ter) c.21619G>T (p.Glu7207Ter) c.47662G>T (p.Glu15888Ter) c.43060G>T (p.Glu14354Ter) c.43057G>T (p.Glu14353Ter) c.40099G>T (p.Glu13367Ter) c.21715G>T (p.Glu7239Ter) c.43210G>T (p.Glu14404Ter) c.43207G>T (p.Glu14403Ter) c.42640G>T (p.Glu14214Ter) c.39982G>T (p.Glu13328Ter) c.39901G>T (p.Glu13301Ter) c.21664G>T (p.Glu7222Ter) c.11518G>T (p.Glu3840Ter) | |
| 2 | g.178614745C= | CA1310549493 | TTN,TTN-AS1 | c.41065G= (p.Glu13689=) c.22150G= (p.Glu7384=) c.21949G= (p.Glu7317=) c.21574G= (p.Glu7192=) c.48769G= (p.Glu16257=) c.43846G= (p.Glu14616=) n.1493C= c.47866G= (p.Glu15956=) c.21760G= (p.Glu7254=) c.21619G= (p.Glu7207=) c.47662G= (p.Glu15888=) c.43060G= (p.Glu14354=) c.43057G= (p.Glu14353=) c.40099G= (p.Glu13367=) c.21715G= (p.Glu7239=) c.43210G= (p.Glu14404=) c.43207G= (p.Glu14403=) c.42640G= (p.Glu14214=) c.39982G= (p.Glu13328=) c.39901G= (p.Glu13301=) c.21664G= (p.Glu7222=) c.11518G= (p.Glu3840=) | |
| 2 | g.178614745C>G | CA349608059 | TTN,TTN-AS1 | c.41065G>C (p.Glu13689Gln) c.22150G>C (p.Glu7384Gln) c.21949G>C (p.Glu7317Gln) c.21574G>C (p.Glu7192Gln) c.48769G>C (p.Glu16257Gln) c.43846G>C (p.Glu14616Gln) n.1493C>G c.47866G>C (p.Glu15956Gln) c.21760G>C (p.Glu7254Gln) c.21619G>C (p.Glu7207Gln) c.47662G>C (p.Glu15888Gln) c.43060G>C (p.Glu14354Gln) c.43057G>C (p.Glu14353Gln) c.40099G>C (p.Glu13367Gln) c.21715G>C (p.Glu7239Gln) c.43210G>C (p.Glu14404Gln) c.43207G>C (p.Glu14403Gln) c.42640G>C (p.Glu14214Gln) c.39982G>C (p.Glu13328Gln) c.39901G>C (p.Glu13301Gln) c.21664G>C (p.Glu7222Gln) c.11518G>C (p.Glu3840Gln) | |
| 2 | g.178614745C>T | CA349608061 | TTN,TTN-AS1 | c.41065G>A (p.Glu13689Lys) c.22150G>A (p.Glu7384Lys) c.21949G>A (p.Glu7317Lys) c.21574G>A (p.Glu7192Lys) c.48769G>A (p.Glu16257Lys) c.43846G>A (p.Glu14616Lys) n.1493C>T c.47866G>A (p.Glu15956Lys) c.21760G>A (p.Glu7254Lys) c.21619G>A (p.Glu7207Lys) c.47662G>A (p.Glu15888Lys) c.43060G>A (p.Glu14354Lys) c.43057G>A (p.Glu14353Lys) c.40099G>A (p.Glu13367Lys) c.21715G>A (p.Glu7239Lys) c.43210G>A (p.Glu14404Lys) c.43207G>A (p.Glu14403Lys) c.42640G>A (p.Glu14214Lys) c.39982G>A (p.Glu13328Lys) c.39901G>A (p.Glu13301Lys) c.21664G>A (p.Glu7222Lys) c.11518G>A (p.Glu3840Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178614746T>A | CA430104091 | TTN,TTN-AS1 | c.41064A>T (p.Pro13688=) c.22149A>T (p.Pro7383=) c.21948A>T (p.Pro7316=) c.21573A>T (p.Pro7191=) c.48768A>T (p.Pro16256=) c.43845A>T (p.Pro14615=) n.1494T>A c.47865A>T (p.Pro15955=) c.21759A>T (p.Pro7253=) c.21618A>T (p.Pro7206=) c.47661A>T (p.Pro15887=) c.43059A>T (p.Pro14353=) c.43056A>T (p.Pro14352=) c.40098A>T (p.Pro13366=) c.21714A>T (p.Pro7238=) c.43209A>T (p.Pro14403=) c.43206A>T (p.Pro14402=) c.42639A>T (p.Pro14213=) c.39981A>T (p.Pro13327=) c.39900A>T (p.Pro13300=) c.21663A>T (p.Pro7221=) c.11517A>T (p.Pro3839=) | |
| 2 | g.178614746T>C | CA1994746 | TTN,TTN-AS1 | c.41064A>G (p.Pro13688=) c.22149A>G (p.Pro7383=) c.21948A>G (p.Pro7316=) c.21573A>G (p.Pro7191=) c.48768A>G (p.Pro16256=) c.43845A>G (p.Pro14615=) n.1494T>C c.47865A>G (p.Pro15955=) c.21759A>G (p.Pro7253=) c.21618A>G (p.Pro7206=) c.47661A>G (p.Pro15887=) c.43059A>G (p.Pro14353=) c.43056A>G (p.Pro14352=) c.40098A>G (p.Pro13366=) c.21714A>G (p.Pro7238=) c.43209A>G (p.Pro14403=) c.43206A>G (p.Pro14402=) c.42639A>G (p.Pro14213=) c.39981A>G (p.Pro13327=) c.39900A>G (p.Pro13300=) c.21663A>G (p.Pro7221=) c.11517A>G (p.Pro3839=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178614746T>G | CA430104094 | TTN,TTN-AS1 | c.41064A>C (p.Pro13688=) c.22149A>C (p.Pro7383=) c.21948A>C (p.Pro7316=) c.21573A>C (p.Pro7191=) c.48768A>C (p.Pro16256=) c.43845A>C (p.Pro14615=) n.1494T>G c.47865A>C (p.Pro15955=) c.21759A>C (p.Pro7253=) c.21618A>C (p.Pro7206=) c.47661A>C (p.Pro15887=) c.43059A>C (p.Pro14353=) c.43056A>C (p.Pro14352=) c.40098A>C (p.Pro13366=) c.21714A>C (p.Pro7238=) c.43209A>C (p.Pro14403=) c.43206A>C (p.Pro14402=) c.42639A>C (p.Pro14213=) c.39981A>C (p.Pro13327=) c.39900A>C (p.Pro13300=) c.21663A>C (p.Pro7221=) c.11517A>C (p.Pro3839=) | |
| 2 | g.178614746T= | CA1310549494 | TTN,TTN-AS1 | c.41064A= (p.Pro13688=) c.22149A= (p.Pro7383=) c.21948A= (p.Pro7316=) c.21573A= (p.Pro7191=) c.48768A= (p.Pro16256=) c.43845A= (p.Pro14615=) n.1494T= c.47865A= (p.Pro15955=) c.21759A= (p.Pro7253=) c.21618A= (p.Pro7206=) c.47661A= (p.Pro15887=) c.43059A= (p.Pro14353=) c.43056A= (p.Pro14352=) c.40098A= (p.Pro13366=) c.21714A= (p.Pro7238=) c.43209A= (p.Pro14403=) c.43206A= (p.Pro14402=) c.42639A= (p.Pro14213=) c.39981A= (p.Pro13327=) c.39900A= (p.Pro13300=) c.21663A= (p.Pro7221=) c.11517A= (p.Pro3839=) | |
| 2 | g.178614747G>A | CA349608067 | TTN,TTN-AS1 | c.41063C>T (p.Pro13688Leu) c.22148C>T (p.Pro7383Leu) c.21947C>T (p.Pro7316Leu) c.21572C>T (p.Pro7191Leu) c.48767C>T (p.Pro16256Leu) c.43844C>T (p.Pro14615Leu) n.1495G>A c.47864C>T (p.Pro15955Leu) c.21758C>T (p.Pro7253Leu) c.21617C>T (p.Pro7206Leu) c.47660C>T (p.Pro15887Leu) c.43058C>T (p.Pro14353Leu) c.43055C>T (p.Pro14352Leu) c.40097C>T (p.Pro13366Leu) c.21713C>T (p.Pro7238Leu) c.43208C>T (p.Pro14403Leu) c.43205C>T (p.Pro14402Leu) c.42638C>T (p.Pro14213Leu) c.39980C>T (p.Pro13327Leu) c.39899C>T (p.Pro13300Leu) c.21662C>T (p.Pro7221Leu) c.11516C>T (p.Pro3839Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178614747G>C | CA349608064 | TTN,TTN-AS1 | c.41063C>G (p.Pro13688Arg) c.22148C>G (p.Pro7383Arg) c.21947C>G (p.Pro7316Arg) c.21572C>G (p.Pro7191Arg) c.48767C>G (p.Pro16256Arg) c.43844C>G (p.Pro14615Arg) n.1495G>C c.47864C>G (p.Pro15955Arg) c.21758C>G (p.Pro7253Arg) c.21617C>G (p.Pro7206Arg) c.47660C>G (p.Pro15887Arg) c.43058C>G (p.Pro14353Arg) c.43055C>G (p.Pro14352Arg) c.40097C>G (p.Pro13366Arg) c.21713C>G (p.Pro7238Arg) c.43208C>G (p.Pro14403Arg) c.43205C>G (p.Pro14402Arg) c.42638C>G (p.Pro14213Arg) c.39980C>G (p.Pro13327Arg) c.39899C>G (p.Pro13300Arg) c.21662C>G (p.Pro7221Arg) c.11516C>G (p.Pro3839Arg) | |
| 2 | g.178614747G= | CA1310549495 | TTN,TTN-AS1 | c.41063C= (p.Pro13688=) c.22148C= (p.Pro7383=) c.21947C= (p.Pro7316=) c.21572C= (p.Pro7191=) c.48767C= (p.Pro16256=) c.43844C= (p.Pro14615=) n.1495G= c.47864C= (p.Pro15955=) c.21758C= (p.Pro7253=) c.21617C= (p.Pro7206=) c.47660C= (p.Pro15887=) c.43058C= (p.Pro14353=) c.43055C= (p.Pro14352=) c.40097C= (p.Pro13366=) c.21713C= (p.Pro7238=) c.43208C= (p.Pro14403=) c.43205C= (p.Pro14402=) c.42638C= (p.Pro14213=) c.39980C= (p.Pro13327=) c.39899C= (p.Pro13300=) c.21662C= (p.Pro7221=) c.11516C= (p.Pro3839=) | |
| 2 | g.178614747G>T | CA349608066 | TTN,TTN-AS1 | c.41063C>A (p.Pro13688Gln) c.22148C>A (p.Pro7383Gln) c.21947C>A (p.Pro7316Gln) c.21572C>A (p.Pro7191Gln) c.48767C>A (p.Pro16256Gln) c.43844C>A (p.Pro14615Gln) n.1495G>T c.47864C>A (p.Pro15955Gln) c.21758C>A (p.Pro7253Gln) c.21617C>A (p.Pro7206Gln) c.47660C>A (p.Pro15887Gln) c.43058C>A (p.Pro14353Gln) c.43055C>A (p.Pro14352Gln) c.40097C>A (p.Pro13366Gln) c.21713C>A (p.Pro7238Gln) c.43208C>A (p.Pro14403Gln) c.43205C>A (p.Pro14402Gln) c.42638C>A (p.Pro14213Gln) c.39980C>A (p.Pro13327Gln) c.39899C>A (p.Pro13300Gln) c.21662C>A (p.Pro7221Gln) c.11516C>A (p.Pro3839Gln) | |
| 2 | g.178614750dup | CA2740096139 | TTN,TTN-AS1 | c.41063dup (p.Glu13689ArgfsTer21) c.22148dup (p.Glu7384ArgfsTer21) c.21947dup (p.Glu7317ArgfsTer21) c.21572dup (p.Glu7192ArgfsTer21) c.48767dup (p.Glu16257ArgfsTer21) c.43844dup (p.Glu14616ArgfsTer21) n.1498dup c.47864dup (p.Glu15956ArgfsTer21) c.21758dup (p.Glu7254ArgfsTer21) c.21617dup (p.Glu7207ArgfsTer21) c.47660dup (p.Glu15888ArgfsTer21) c.43058dup (p.Glu14354ArgfsTer21) c.43055dup (p.Glu14353ArgfsTer21) c.40097dup (p.Glu13367ArgfsTer21) c.21713dup (p.Glu7239ArgfsTer21) c.43208dup (p.Glu14404ArgfsTer21) c.43205dup (p.Glu14403ArgfsTer21) c.42638dup (p.Glu14214ArgfsTer21) c.39980dup (p.Glu13328ArgfsTer21) c.39899dup (p.Glu13301ArgfsTer21) c.21662dup (p.Glu7222ArgfsTer21) c.11516dup (p.Glu3840ArgfsTer21) | ClinVar |
| 2 | g.178614748G>A | CA349608070 | TTN,TTN-AS1 | c.41062C>T (p.Pro13688Ser) c.22147C>T (p.Pro7383Ser) c.21946C>T (p.Pro7316Ser) c.21571C>T (p.Pro7191Ser) c.48766C>T (p.Pro16256Ser) c.43843C>T (p.Pro14615Ser) n.1496G>A c.47863C>T (p.Pro15955Ser) c.21757C>T (p.Pro7253Ser) c.21616C>T (p.Pro7206Ser) c.47659C>T (p.Pro15887Ser) c.43057C>T (p.Pro14353Ser) c.43054C>T (p.Pro14352Ser) c.40096C>T (p.Pro13366Ser) c.21712C>T (p.Pro7238Ser) c.43207C>T (p.Pro14403Ser) c.43204C>T (p.Pro14402Ser) c.42637C>T (p.Pro14213Ser) c.39979C>T (p.Pro13327Ser) c.39898C>T (p.Pro13300Ser) c.21661C>T (p.Pro7221Ser) c.11515C>T (p.Pro3839Ser) | |
| 2 | g.178614748G>C | CA349608071 | TTN,TTN-AS1 | c.41062C>G (p.Pro13688Ala) c.22147C>G (p.Pro7383Ala) c.21946C>G (p.Pro7316Ala) c.21571C>G (p.Pro7191Ala) c.48766C>G (p.Pro16256Ala) c.43843C>G (p.Pro14615Ala) n.1496G>C c.47863C>G (p.Pro15955Ala) c.21757C>G (p.Pro7253Ala) c.21616C>G (p.Pro7206Ala) c.47659C>G (p.Pro15887Ala) c.43057C>G (p.Pro14353Ala) c.43054C>G (p.Pro14352Ala) c.40096C>G (p.Pro13366Ala) c.21712C>G (p.Pro7238Ala) c.43207C>G (p.Pro14403Ala) c.43204C>G (p.Pro14402Ala) c.42637C>G (p.Pro14213Ala) c.39979C>G (p.Pro13327Ala) c.39898C>G (p.Pro13300Ala) c.21661C>G (p.Pro7221Ala) c.11515C>G (p.Pro3839Ala) | |
| 2 | g.178614748G= | CA1310549496 | TTN,TTN-AS1 | c.41062C= (p.Pro13688=) c.22147C= (p.Pro7383=) c.21946C= (p.Pro7316=) c.21571C= (p.Pro7191=) c.48766C= (p.Pro16256=) c.43843C= (p.Pro14615=) n.1496G= c.47863C= (p.Pro15955=) c.21757C= (p.Pro7253=) c.21616C= (p.Pro7206=) c.47659C= (p.Pro15887=) c.43057C= (p.Pro14353=) c.43054C= (p.Pro14352=) c.40096C= (p.Pro13366=) c.21712C= (p.Pro7238=) c.43207C= (p.Pro14403=) c.43204C= (p.Pro14402=) c.42637C= (p.Pro14213=) c.39979C= (p.Pro13327=) c.39898C= (p.Pro13300=) c.21661C= (p.Pro7221=) c.11515C= (p.Pro3839=) | |
| 2 | g.178614748G>T | CA309932 | TTN,TTN-AS1 | c.41062C>A (p.Pro13688Thr) c.22147C>A (p.Pro7383Thr) c.21946C>A (p.Pro7316Thr) c.21571C>A (p.Pro7191Thr) c.48766C>A (p.Pro16256Thr) c.43843C>A (p.Pro14615Thr) n.1496G>T c.47863C>A (p.Pro15955Thr) c.21757C>A (p.Pro7253Thr) c.21616C>A (p.Pro7206Thr) c.47659C>A (p.Pro15887Thr) c.43057C>A (p.Pro14353Thr) c.43054C>A (p.Pro14352Thr) c.40096C>A (p.Pro13366Thr) c.21712C>A (p.Pro7238Thr) c.43207C>A (p.Pro14403Thr) c.43204C>A (p.Pro14402Thr) c.42637C>A (p.Pro14213Thr) c.39979C>A (p.Pro13327Thr) c.39898C>A (p.Pro13300Thr) c.21661C>A (p.Pro7221Thr) c.11515C>A (p.Pro3839Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178614749G>A | CA60987761 | TTN,TTN-AS1 | c.41061C>T (p.Ala13687=) c.22146C>T (p.Ala7382=) c.21945C>T (p.Ala7315=) c.21570C>T (p.Ala7190=) c.48765C>T (p.Ala16255=) c.43842C>T (p.Ala14614=) n.1497G>A c.47862C>T (p.Ala15954=) c.21756C>T (p.Ala7252=) c.21615C>T (p.Ala7205=) c.47658C>T (p.Ala15886=) c.43056C>T (p.Ala14352=) c.43053C>T (p.Ala14351=) c.40095C>T (p.Ala13365=) c.21711C>T (p.Ala7237=) c.43206C>T (p.Ala14402=) c.43203C>T (p.Ala14401=) c.42636C>T (p.Ala14212=) c.39978C>T (p.Ala13326=) c.39897C>T (p.Ala13299=) c.21660C>T (p.Ala7220=) c.11514C>T (p.Ala3838=) | ClinVar dbSNP gnomAD v2 |
| 2 | g.178614749G>C | CA430104096 | TTN,TTN-AS1 | c.41061C>G (p.Ala13687=) c.22146C>G (p.Ala7382=) c.21945C>G (p.Ala7315=) c.21570C>G (p.Ala7190=) c.48765C>G (p.Ala16255=) c.43842C>G (p.Ala14614=) n.1497G>C c.47862C>G (p.Ala15954=) c.21756C>G (p.Ala7252=) c.21615C>G (p.Ala7205=) c.47658C>G (p.Ala15886=) c.43056C>G (p.Ala14352=) c.43053C>G (p.Ala14351=) c.40095C>G (p.Ala13365=) c.21711C>G (p.Ala7237=) c.43206C>G (p.Ala14402=) c.43203C>G (p.Ala14401=) c.42636C>G (p.Ala14212=) c.39978C>G (p.Ala13326=) c.39897C>G (p.Ala13299=) c.21660C>G (p.Ala7220=) c.11514C>G (p.Ala3838=) | |
| 2 | g.178614749G= | CA1310549497 | TTN,TTN-AS1 | c.41061C= (p.Ala13687=) c.22146C= (p.Ala7382=) c.21945C= (p.Ala7315=) c.21570C= (p.Ala7190=) c.48765C= (p.Ala16255=) c.43842C= (p.Ala14614=) n.1497G= c.47862C= (p.Ala15954=) c.21756C= (p.Ala7252=) c.21615C= (p.Ala7205=) c.47658C= (p.Ala15886=) c.43056C= (p.Ala14352=) c.43053C= (p.Ala14351=) c.40095C= (p.Ala13365=) c.21711C= (p.Ala7237=) c.43206C= (p.Ala14402=) c.43203C= (p.Ala14401=) c.42636C= (p.Ala14212=) c.39978C= (p.Ala13326=) c.39897C= (p.Ala13299=) c.21660C= (p.Ala7220=) c.11514C= (p.Ala3838=) | |
| 2 | g.178614749G>T | CA430104097 | TTN,TTN-AS1 | c.41061C>A (p.Ala13687=) c.22146C>A (p.Ala7382=) c.21945C>A (p.Ala7315=) c.21570C>A (p.Ala7190=) c.48765C>A (p.Ala16255=) c.43842C>A (p.Ala14614=) n.1497G>T c.47862C>A (p.Ala15954=) c.21756C>A (p.Ala7252=) c.21615C>A (p.Ala7205=) c.47658C>A (p.Ala15886=) c.43056C>A (p.Ala14352=) c.43053C>A (p.Ala14351=) c.40095C>A (p.Ala13365=) c.21711C>A (p.Ala7237=) c.43206C>A (p.Ala14402=) c.43203C>A (p.Ala14401=) c.42636C>A (p.Ala14212=) c.39978C>A (p.Ala13326=) c.39897C>A (p.Ala13299=) c.21660C>A (p.Ala7220=) c.11514C>A (p.Ala3838=) | |
| 2 | g.178614750G>A | CA349608075 | TTN,TTN-AS1 | c.41060C>T (p.Ala13687Val) c.22145C>T (p.Ala7382Val) c.21944C>T (p.Ala7315Val) c.21569C>T (p.Ala7190Val) c.48764C>T (p.Ala16255Val) c.43841C>T (p.Ala14614Val) n.1498G>A c.47861C>T (p.Ala15954Val) c.21755C>T (p.Ala7252Val) c.21614C>T (p.Ala7205Val) c.47657C>T (p.Ala15886Val) c.43055C>T (p.Ala14352Val) c.43052C>T (p.Ala14351Val) c.40094C>T (p.Ala13365Val) c.21710C>T (p.Ala7237Val) c.43205C>T (p.Ala14402Val) c.43202C>T (p.Ala14401Val) c.42635C>T (p.Ala14212Val) c.39977C>T (p.Ala13326Val) c.39896C>T (p.Ala13299Val) c.21659C>T (p.Ala7220Val) c.11513C>T (p.Ala3838Val) | dbSNP |
| 2 | g.178614750G>C | CA349608076 | TTN,TTN-AS1 | c.41060C>G (p.Ala13687Gly) c.22145C>G (p.Ala7382Gly) c.21944C>G (p.Ala7315Gly) c.21569C>G (p.Ala7190Gly) c.48764C>G (p.Ala16255Gly) c.43841C>G (p.Ala14614Gly) n.1498G>C c.47861C>G (p.Ala15954Gly) c.21755C>G (p.Ala7252Gly) c.21614C>G (p.Ala7205Gly) c.47657C>G (p.Ala15886Gly) c.43055C>G (p.Ala14352Gly) c.43052C>G (p.Ala14351Gly) c.40094C>G (p.Ala13365Gly) c.21710C>G (p.Ala7237Gly) c.43205C>G (p.Ala14402Gly) c.43202C>G (p.Ala14401Gly) c.42635C>G (p.Ala14212Gly) c.39977C>G (p.Ala13326Gly) c.39896C>G (p.Ala13299Gly) c.21659C>G (p.Ala7220Gly) c.11513C>G (p.Ala3838Gly) | |
| 2 | g.178614750G= | CA1310549498 | TTN,TTN-AS1 | c.41060C= (p.Ala13687=) c.22145C= (p.Ala7382=) c.21944C= (p.Ala7315=) c.21569C= (p.Ala7190=) c.48764C= (p.Ala16255=) c.43841C= (p.Ala14614=) n.1498G= c.47861C= (p.Ala15954=) c.21755C= (p.Ala7252=) c.21614C= (p.Ala7205=) c.47657C= (p.Ala15886=) c.43055C= (p.Ala14352=) c.43052C= (p.Ala14351=) c.40094C= (p.Ala13365=) c.21710C= (p.Ala7237=) c.43205C= (p.Ala14402=) c.43202C= (p.Ala14401=) c.42635C= (p.Ala14212=) c.39977C= (p.Ala13326=) c.39896C= (p.Ala13299=) c.21659C= (p.Ala7220=) c.11513C= (p.Ala3838=) | |
| 2 | g.178614750G>T | CA349608078 | TTN,TTN-AS1 | c.41060C>A (p.Ala13687Asp) c.22145C>A (p.Ala7382Asp) c.21944C>A (p.Ala7315Asp) c.21569C>A (p.Ala7190Asp) c.48764C>A (p.Ala16255Asp) c.43841C>A (p.Ala14614Asp) n.1498G>T c.47861C>A (p.Ala15954Asp) c.21755C>A (p.Ala7252Asp) c.21614C>A (p.Ala7205Asp) c.47657C>A (p.Ala15886Asp) c.43055C>A (p.Ala14352Asp) c.43052C>A (p.Ala14351Asp) c.40094C>A (p.Ala13365Asp) c.21710C>A (p.Ala7237Asp) c.43205C>A (p.Ala14402Asp) c.43202C>A (p.Ala14401Asp) c.42635C>A (p.Ala14212Asp) c.39977C>A (p.Ala13326Asp) c.39896C>A (p.Ala13299Asp) c.21659C>A (p.Ala7220Asp) c.11513C>A (p.Ala3838Asp) | |
| 2 | g.178614751C>A | CA349608080 | TTN,TTN-AS1 | c.41059G>T (p.Ala13687Ser) c.22144G>T (p.Ala7382Ser) c.21943G>T (p.Ala7315Ser) c.21568G>T (p.Ala7190Ser) c.48763G>T (p.Ala16255Ser) c.43840G>T (p.Ala14614Ser) n.1499C>A c.47860G>T (p.Ala15954Ser) c.21754G>T (p.Ala7252Ser) c.21613G>T (p.Ala7205Ser) c.47656G>T (p.Ala15886Ser) c.43054G>T (p.Ala14352Ser) c.43051G>T (p.Ala14351Ser) c.40093G>T (p.Ala13365Ser) c.21709G>T (p.Ala7237Ser) c.43204G>T (p.Ala14402Ser) c.43201G>T (p.Ala14401Ser) c.42634G>T (p.Ala14212Ser) c.39976G>T (p.Ala13326Ser) c.39895G>T (p.Ala13299Ser) c.21658G>T (p.Ala7220Ser) c.11512G>T (p.Ala3838Ser) | |
| 2 | g.178614751C>G | CA349608082 | TTN,TTN-AS1 | c.41059G>C (p.Ala13687Pro) c.22144G>C (p.Ala7382Pro) c.21943G>C (p.Ala7315Pro) c.21568G>C (p.Ala7190Pro) c.48763G>C (p.Ala16255Pro) c.43840G>C (p.Ala14614Pro) n.1499C>G c.47860G>C (p.Ala15954Pro) c.21754G>C (p.Ala7252Pro) c.21613G>C (p.Ala7205Pro) c.47656G>C (p.Ala15886Pro) c.43054G>C (p.Ala14352Pro) c.43051G>C (p.Ala14351Pro) c.40093G>C (p.Ala13365Pro) c.21709G>C (p.Ala7237Pro) c.43204G>C (p.Ala14402Pro) c.43201G>C (p.Ala14401Pro) c.42634G>C (p.Ala14212Pro) c.39976G>C (p.Ala13326Pro) c.39895G>C (p.Ala13299Pro) c.21658G>C (p.Ala7220Pro) c.11512G>C (p.Ala3838Pro) |