Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178789393A= | CA1310623116 | TTN | c.2043T= (p.Thr681=) c.1905T= (p.Thr635=) c.555T= (p.Thr185=) c.2091T= (p.Thr697=) c.1950T= (p.Thr650=) c.2088T= (p.Thr696=) c.2046T= (p.Thr682=) | |
2 | g.178789393A>C | CA430112560 | TTN | c.2043T>G (p.Thr681=) c.1905T>G (p.Thr635=) c.555T>G (p.Thr185=) c.2091T>G (p.Thr697=) c.1950T>G (p.Thr650=) c.2088T>G (p.Thr696=) c.2046T>G (p.Thr682=) | |
2 | g.178789393A>G | CA430112561 | TTN | c.2043T>C (p.Thr681=) c.1905T>C (p.Thr635=) c.555T>C (p.Thr185=) c.2091T>C (p.Thr697=) c.1950T>C (p.Thr650=) c.2088T>C (p.Thr696=) c.2046T>C (p.Thr682=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178789393A>T | CA430112562 | TTN | c.2043T>A (p.Thr681=) c.1905T>A (p.Thr635=) c.555T>A (p.Thr185=) c.2091T>A (p.Thr697=) c.1950T>A (p.Thr650=) c.2088T>A (p.Thr696=) c.2046T>A (p.Thr682=) | |
2 | g.178789394G>A | CA2005919 | TTN | c.2042C>T (p.Thr681Ile) c.1904C>T (p.Thr635Ile) c.554C>T (p.Thr185Ile) c.2090C>T (p.Thr697Ile) c.1949C>T (p.Thr650Ile) c.2087C>T (p.Thr696Ile) c.2045C>T (p.Thr682Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178789394G>C | CA349504776 | TTN | c.2042C>G (p.Thr681Ser) c.1904C>G (p.Thr635Ser) c.554C>G (p.Thr185Ser) c.2090C>G (p.Thr697Ser) c.1949C>G (p.Thr650Ser) c.2087C>G (p.Thr696Ser) c.2045C>G (p.Thr682Ser) | |
2 | g.178789394G= | CA1310623117 | TTN | c.2042C= (p.Thr681=) c.1904C= (p.Thr635=) c.554C= (p.Thr185=) c.2090C= (p.Thr697=) c.1949C= (p.Thr650=) c.2087C= (p.Thr696=) c.2045C= (p.Thr682=) | |
2 | g.178789394G>T | CA2005918 | TTN | c.2042C>A (p.Thr681Asn) c.1904C>A (p.Thr635Asn) c.554C>A (p.Thr185Asn) c.2090C>A (p.Thr697Asn) c.1949C>A (p.Thr650Asn) c.2087C>A (p.Thr696Asn) c.2045C>A (p.Thr682Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178789395T>A | CA349504790 | TTN | c.2041A>T (p.Thr681Ser) c.1903A>T (p.Thr635Ser) c.553A>T (p.Thr185Ser) c.2089A>T (p.Thr697Ser) c.1948A>T (p.Thr650Ser) c.2086A>T (p.Thr696Ser) c.2044A>T (p.Thr682Ser) | |
2 | g.178789395T>C | CA349504802 | TTN | c.2041A>G (p.Thr681Ala) c.1903A>G (p.Thr635Ala) c.553A>G (p.Thr185Ala) c.2089A>G (p.Thr697Ala) c.1948A>G (p.Thr650Ala) c.2086A>G (p.Thr696Ala) c.2044A>G (p.Thr682Ala) | dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.178789395T>G | CA349504806 | TTN | c.2041A>C (p.Thr681Pro) c.1903A>C (p.Thr635Pro) c.553A>C (p.Thr185Pro) c.2089A>C (p.Thr697Pro) c.1948A>C (p.Thr650Pro) c.2086A>C (p.Thr696Pro) c.2044A>C (p.Thr682Pro) | |
2 | g.178789395T= | CA1310623118 | TTN | c.2041A= (p.Thr681=) c.1903A= (p.Thr635=) c.553A= (p.Thr185=) c.2089A= (p.Thr697=) c.1948A= (p.Thr650=) c.2086A= (p.Thr696=) c.2044A= (p.Thr682=) | |
2 | g.178789396A= | CA1310623119 | TTN | c.2040T= (p.Ala680=) c.1902T= (p.Ala634=) c.552T= (p.Ala184=) c.2088T= (p.Ala696=) c.1947T= (p.Ala649=) c.2085T= (p.Ala695=) c.2043T= (p.Ala681=) | |
2 | g.178789396A>C | CA430112567 | TTN | c.2040T>G (p.Ala680=) c.1902T>G (p.Ala634=) c.552T>G (p.Ala184=) c.2088T>G (p.Ala696=) c.1947T>G (p.Ala649=) c.2085T>G (p.Ala695=) c.2043T>G (p.Ala681=) | |
2 | g.178789396A>G | CA430112565 | TTN | c.2040T>C (p.Ala680=) c.1902T>C (p.Ala634=) c.552T>C (p.Ala184=) c.2088T>C (p.Ala696=) c.1947T>C (p.Ala649=) c.2085T>C (p.Ala695=) c.2043T>C (p.Ala681=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178789396A>T | CA430112563 | TTN | c.2040T>A (p.Ala680=) c.1902T>A (p.Ala634=) c.552T>A (p.Ala184=) c.2088T>A (p.Ala696=) c.1947T>A (p.Ala649=) c.2085T>A (p.Ala695=) c.2043T>A (p.Ala681=) | |
2 | g.178789397G>A | CA349504807 | TTN | c.2039C>T (p.Ala680Val) c.1901C>T (p.Ala634Val) c.551C>T (p.Ala184Val) c.2087C>T (p.Ala696Val) c.1946C>T (p.Ala649Val) c.2084C>T (p.Ala695Val) c.2042C>T (p.Ala681Val) | |
2 | g.178789397G>C | CA349504808 | TTN | c.2039C>G (p.Ala680Gly) c.1901C>G (p.Ala634Gly) c.551C>G (p.Ala184Gly) c.2087C>G (p.Ala696Gly) c.1946C>G (p.Ala649Gly) c.2084C>G (p.Ala695Gly) c.2042C>G (p.Ala681Gly) | |
2 | g.178789397G>T | CA349504810 | TTN | c.2039C>A (p.Ala680Asp) c.1901C>A (p.Ala634Asp) c.551C>A (p.Ala184Asp) c.2087C>A (p.Ala696Asp) c.1946C>A (p.Ala649Asp) c.2084C>A (p.Ala695Asp) c.2042C>A (p.Ala681Asp) | |
2 | g.178789398C>A | CA349504815 | TTN | c.2038G>T (p.Ala680Ser) c.1900G>T (p.Ala634Ser) c.550G>T (p.Ala184Ser) c.2086G>T (p.Ala696Ser) c.1945G>T (p.Ala649Ser) c.2083G>T (p.Ala695Ser) c.2041G>T (p.Ala681Ser) | |
2 | g.178789398C>G | CA349504830 | TTN | c.2038G>C (p.Ala680Pro) c.1900G>C (p.Ala634Pro) c.550G>C (p.Ala184Pro) c.2086G>C (p.Ala696Pro) c.1945G>C (p.Ala649Pro) c.2083G>C (p.Ala695Pro) c.2041G>C (p.Ala681Pro) | gnomAD v4 |
2 | g.178789398C>T | CA349504845 | TTN | c.2038G>A (p.Ala680Thr) c.1900G>A (p.Ala634Thr) c.550G>A (p.Ala184Thr) c.2086G>A (p.Ala696Thr) c.1945G>A (p.Ala649Thr) c.2083G>A (p.Ala695Thr) c.2041G>A (p.Ala681Thr) | gnomAD v4 |
2 | g.178789398_178789399delinsTA | CA645514603 | TTN | c.2037_2038delinsTA (p.Met679_Ala680delinsIleThr) c.1899_1900delinsTA (p.Met633_Ala634delinsIleThr) c.549_550delinsTA (p.Met183_Ala184delinsIleThr) c.2085_2086delinsTA (p.Met695_Ala696delinsIleThr) c.1944_1945delinsTA (p.Met648_Ala649delinsIleThr) c.2082_2083delinsTA (p.Met694_Ala695delinsIleThr) c.2040_2041delinsTA (p.Met680_Ala681delinsIleThr) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178789399C>A | CA349504856 | TTN | c.2037G>T (p.Met679Ile) c.1899G>T (p.Met633Ile) c.549G>T (p.Met183Ile) c.2085G>T (p.Met695Ile) c.1944G>T (p.Met648Ile) c.2082G>T (p.Met694Ile) c.2040G>T (p.Met680Ile) | |
2 | g.178789399C>G | CA349504862 | TTN | c.2037G>C (p.Met679Ile) c.1899G>C (p.Met633Ile) c.549G>C (p.Met183Ile) c.2085G>C (p.Met695Ile) c.1944G>C (p.Met648Ile) c.2082G>C (p.Met694Ile) c.2040G>C (p.Met680Ile) | |
2 | g.178789399C>T | CA349504871 | TTN | c.2037G>A (p.Met679Ile) c.1899G>A (p.Met633Ile) c.549G>A (p.Met183Ile) c.2085G>A (p.Met695Ile) c.1944G>A (p.Met648Ile) c.2082G>A (p.Met694Ile) c.2040G>A (p.Met680Ile) | |
2 | g.178789400A= | CA1310623120 | TTN | c.2036T= (p.Met679=) c.1898T= (p.Met633=) c.548T= (p.Met183=) c.2084T= (p.Met695=) c.1943T= (p.Met648=) c.2081T= (p.Met694=) c.2039T= (p.Met680=) | |
2 | g.178789400A>C | CA349504878 | TTN | c.2036T>G (p.Met679Arg) c.1898T>G (p.Met633Arg) c.548T>G (p.Met183Arg) c.2084T>G (p.Met695Arg) c.1943T>G (p.Met648Arg) c.2081T>G (p.Met694Arg) c.2039T>G (p.Met680Arg) | |
2 | g.178789400A>G | CA2005920 | TTN | c.2036T>C (p.Met679Thr) c.1898T>C (p.Met633Thr) c.548T>C (p.Met183Thr) c.2084T>C (p.Met695Thr) c.1943T>C (p.Met648Thr) c.2081T>C (p.Met694Thr) c.2039T>C (p.Met680Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178789400A>T | CA349504879 | TTN | c.2036T>A (p.Met679Lys) c.1898T>A (p.Met633Lys) c.548T>A (p.Met183Lys) c.2084T>A (p.Met695Lys) c.1943T>A (p.Met648Lys) c.2081T>A (p.Met694Lys) c.2039T>A (p.Met680Lys) | |
2 | g.178789401T>A | CA349504887 | TTN | c.2035A>T (p.Met679Leu) c.1897A>T (p.Met633Leu) c.547A>T (p.Met183Leu) c.2083A>T (p.Met695Leu) c.1942A>T (p.Met648Leu) c.2080A>T (p.Met694Leu) c.2038A>T (p.Met680Leu) | |
2 | g.178789401T>C | CA349504893 | TTN | c.2035A>G (p.Met679Val) c.1897A>G (p.Met633Val) c.547A>G (p.Met183Val) c.2083A>G (p.Met695Val) c.1942A>G (p.Met648Val) c.2080A>G (p.Met694Val) c.2038A>G (p.Met680Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178789401T>G | CA349504897 | TTN | c.2035A>C (p.Met679Leu) c.1897A>C (p.Met633Leu) c.547A>C (p.Met183Leu) c.2083A>C (p.Met695Leu) c.1942A>C (p.Met648Leu) c.2080A>C (p.Met694Leu) c.2038A>C (p.Met680Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178789401T= | CA1310623121 | TTN | c.2035A= (p.Met679=) c.1897A= (p.Met633=) c.547A= (p.Met183=) c.2083A= (p.Met695=) c.1942A= (p.Met648=) c.2080A= (p.Met694=) c.2038A= (p.Met680=) | |
2 | g.178789402A= | CA1310623122 | TTN | c.2034T= (p.Thr678=) c.1896T= (p.Thr632=) c.546T= (p.Thr182=) c.2082T= (p.Thr694=) c.1941T= (p.Thr647=) c.2079T= (p.Thr693=) c.2037T= (p.Thr679=) | |
2 | g.178789402A>C | CA430112571 | TTN | c.2034T>G (p.Thr678=) c.1896T>G (p.Thr632=) c.546T>G (p.Thr182=) c.2082T>G (p.Thr694=) c.1941T>G (p.Thr647=) c.2079T>G (p.Thr693=) c.2037T>G (p.Thr679=) | dbSNP gnomAD v4 |
2 | g.178789402A>G | CA430112573 | TTN | c.2034T>C (p.Thr678=) c.1896T>C (p.Thr632=) c.546T>C (p.Thr182=) c.2082T>C (p.Thr694=) c.1941T>C (p.Thr647=) c.2079T>C (p.Thr693=) c.2037T>C (p.Thr679=) | |
2 | g.178789402A>T | CA430112572 | TTN | c.2034T>A (p.Thr678=) c.1896T>A (p.Thr632=) c.546T>A (p.Thr182=) c.2082T>A (p.Thr694=) c.1941T>A (p.Thr647=) c.2079T>A (p.Thr693=) c.2037T>A (p.Thr679=) | |
2 | g.178789403G>A | CA349504902 | TTN | c.2033C>T (p.Thr678Ile) c.1895C>T (p.Thr632Ile) c.545C>T (p.Thr182Ile) c.2081C>T (p.Thr694Ile) c.1940C>T (p.Thr647Ile) c.2078C>T (p.Thr693Ile) c.2036C>T (p.Thr679Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178789403G>C | CA349504905 | TTN | c.2033C>G (p.Thr678Ser) c.1895C>G (p.Thr632Ser) c.545C>G (p.Thr182Ser) c.2081C>G (p.Thr694Ser) c.1940C>G (p.Thr647Ser) c.2078C>G (p.Thr693Ser) c.2036C>G (p.Thr679Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178789403G= | CA1310623123 | TTN | c.2033C= (p.Thr678=) c.1895C= (p.Thr632=) c.545C= (p.Thr182=) c.2081C= (p.Thr694=) c.1940C= (p.Thr647=) c.2078C= (p.Thr693=) c.2036C= (p.Thr679=) | |
2 | g.178789403G>T | CA349504906 | TTN | c.2033C>A (p.Thr678Asn) c.1895C>A (p.Thr632Asn) c.545C>A (p.Thr182Asn) c.2081C>A (p.Thr694Asn) c.1940C>A (p.Thr647Asn) c.2078C>A (p.Thr693Asn) c.2036C>A (p.Thr679Asn) | |
2 | g.178789404T>A | CA349504907 | TTN | c.2032A>T (p.Thr678Ser) c.1894A>T (p.Thr632Ser) c.544A>T (p.Thr182Ser) c.2080A>T (p.Thr694Ser) c.1939A>T (p.Thr647Ser) c.2077A>T (p.Thr693Ser) c.2035A>T (p.Thr679Ser) | |
2 | g.178789404T>C | CA10581905 | TTN | c.2032A>G (p.Thr678Ala) c.1894A>G (p.Thr632Ala) c.544A>G (p.Thr182Ala) c.2080A>G (p.Thr694Ala) c.1939A>G (p.Thr647Ala) c.2077A>G (p.Thr693Ala) c.2035A>G (p.Thr679Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
2 | g.178789404T>G | CA349504913 | TTN | c.2032A>C (p.Thr678Pro) c.1894A>C (p.Thr632Pro) c.544A>C (p.Thr182Pro) c.2080A>C (p.Thr694Pro) c.1939A>C (p.Thr647Pro) c.2077A>C (p.Thr693Pro) c.2035A>C (p.Thr679Pro) | |
2 | g.178789404T= | CA1310623124 | TTN | c.2032A= (p.Thr678=) c.1894A= (p.Thr632=) c.544A= (p.Thr182=) c.2080A= (p.Thr694=) c.1939A= (p.Thr647=) c.2077A= (p.Thr693=) c.2035A= (p.Thr679=) | |
2 | g.178789405T>A | CA349504914 | TTN | c.2031A>T (p.Glu677Asp) c.1893A>T (p.Glu631Asp) c.543A>T (p.Glu181Asp) c.2079A>T (p.Glu693Asp) c.1938A>T (p.Glu646Asp) c.2076A>T (p.Glu692Asp) c.2034A>T (p.Glu678Asp) | dbSNP |
2 | g.178789405T>C | CA430112574 | TTN | c.2031A>G (p.Glu677=) c.1893A>G (p.Glu631=) c.543A>G (p.Glu181=) c.2079A>G (p.Glu693=) c.1938A>G (p.Glu646=) c.2076A>G (p.Glu692=) c.2034A>G (p.Glu678=) | |
2 | g.178789405T>G | CA349504915 | TTN | c.2031A>C (p.Glu677Asp) c.1893A>C (p.Glu631Asp) c.543A>C (p.Glu181Asp) c.2079A>C (p.Glu693Asp) c.1938A>C (p.Glu646Asp) c.2076A>C (p.Glu692Asp) c.2034A>C (p.Glu678Asp) | |
2 | g.178789405T= | CA1310623125 | TTN | c.2031A= (p.Glu677=) c.1893A= (p.Glu631=) c.543A= (p.Glu181=) c.2079A= (p.Glu693=) c.1938A= (p.Glu646=) c.2076A= (p.Glu692=) c.2034A= (p.Glu678=) |