Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178789393A=CA1310623116TTNc.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=)
2g.178789393A>CCA430112560TTNc.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=)
2g.178789393A>GCA430112561TTNc.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
2g.178789393A>TCA430112562TTNc.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=)
2g.178789394G>ACA2005919TTNc.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
2g.178789394G>CCA349504776TTNc.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)
2g.178789394G=CA1310623117TTNc.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=)
2g.178789394G>TCA2005918TTNc.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
2g.178789395T>ACA349504790TTNc.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)
2g.178789395T>CCA349504802TTNc.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
2g.178789395T>GCA349504806TTNc.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)
2g.178789395T=CA1310623118TTNc.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=)
2g.178789396A=CA1310623119TTNc.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=)
2g.178789396A>CCA430112567TTNc.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=)
2g.178789396A>GCA430112565TTNc.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
2g.178789396A>TCA430112563TTNc.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=)
2g.178789397G>ACA349504807TTNc.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)
2g.178789397G>CCA349504808TTNc.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)
2g.178789397G>TCA349504810TTNc.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)
2g.178789398C>ACA349504815TTNc.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)
2g.178789398C>GCA349504830TTNc.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
2g.178789398C>TCA349504845TTNc.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
2g.178789398_178789399delinsTACA645514603TTNc.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
2g.178789399C>ACA349504856TTNc.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)
2g.178789399C>GCA349504862TTNc.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)
2g.178789399C>TCA349504871TTNc.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)
2g.178789400A=CA1310623120TTNc.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=)
2g.178789400A>CCA349504878TTNc.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)
2g.178789400A>GCA2005920TTNc.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
2g.178789400A>TCA349504879TTNc.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)
2g.178789401T>ACA349504887TTNc.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)
2g.178789401T>CCA349504893TTNc.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
2g.178789401T>GCA349504897TTNc.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
2g.178789401T=CA1310623121TTNc.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=)
2g.178789402A=CA1310623122TTNc.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=)
2g.178789402A>CCA430112571TTNc.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
2g.178789402A>GCA430112573TTNc.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=)
2g.178789402A>TCA430112572TTNc.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=)
2g.178789403G>ACA349504902TTNc.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
2g.178789403G>CCA349504905TTNc.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
2g.178789403G=CA1310623123TTNc.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=)
2g.178789403G>TCA349504906TTNc.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)
2g.178789404T>ACA349504907TTNc.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)
2g.178789404T>CCA10581905TTNc.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
2g.178789404T>GCA349504913TTNc.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)
2g.178789404T=CA1310623124TTNc.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=)
2g.178789405T>ACA349504914TTNc.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
2g.178789405T>CCA430112574TTNc.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=)
2g.178789405T>GCA349504915TTNc.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)
2g.178789405T=CA1310623125TTNc.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=)

Number of alleles fetched