Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.22123625_22123670del | CA2686434494 | HR | c.1901_1915+31del c.1904_1918+31del | gnomAD v4 |
8 | g.22123641_22123657del | CA2686436792 | HR | c.1907_1915+8del c.1910_1918+8del | gnomAD v4 |
8 | g.22123649C>A | CA370492240 | HR | c.1915G>T (p.Gly639Cys) c.1918G>T (p.Gly640Cys) | gnomAD v4 |
8 | g.22123649C= | CA1770267757 | HR | c.1915G= (p.Gly639=) c.1918G= (p.Gly640=) | |
8 | g.22123649C>G | CA173458112 | HR | c.1915G>C (p.Gly639Arg) c.1918G>C (p.Gly640Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123649C>T | CA370492244 | HR | c.1915G>A (p.Gly639Ser) c.1918G>A (p.Gly640Ser) | |
8 | g.22123649_22123657delinsCTGCTTTCT | CA1770267759 | HR | c.1907_1915delinsAGAAAGCAG (p.Glu636=) c.1910_1918delinsAGAAAGCAG (p.Glu637=) | |
8 | g.22123650T>A | CA459891670 | HR | c.1914A>T (p.Ala638=) c.1917A>T (p.Ala639=) | |
8 | g.22123650T>C | CA459891669 | HR | c.1914A>G (p.Ala638=) c.1917A>G (p.Ala639=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123650T>G | CA459891668 | HR | c.1914A>C (p.Ala638=) c.1917A>C (p.Ala639=) | |
8 | g.22123650T= | CA1770267764 | HR | c.1914A= (p.Ala638=) c.1917A= (p.Ala639=) | |
8 | g.22123650_22123651del | CA580950600 | HR | c.1913_1914del (p.Ala638GlyfsTer?) c.1916_1917del (p.Ala639GlyfsTer?) | gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123650_22123655del | CA580950598 | HR | c.1909_1914del (p.Lys637_Ala638del) c.1912_1917del (p.Lys638_Ala639del) | gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123650_22123657del | CA580950599 | HR | c.1907_1914del (p.Glu636GlyfsTer?) c.1910_1917del (p.Glu637GlyfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123651G>A | CA370492251 | HR | c.1913C>T (p.Ala638Val) c.1916C>T (p.Ala639Val) | gnomAD v4 |
8 | g.22123651G>C | CA173458114 | HR | c.1913C>G (p.Ala638Gly) c.1916C>G (p.Ala639Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123651G= | CA1770267769 | HR | c.1913C= (p.Ala638=) c.1916C= (p.Ala639=) | |
8 | g.22123651G>T | CA370492248 | HR | c.1913C>A (p.Ala638Glu) c.1916C>A (p.Ala639Glu) | gnomAD v4 |
8 | g.22123652C>A | CA370492253 | HR | c.1912G>T (p.Ala638Ser) c.1915G>T (p.Ala639Ser) | |
8 | g.22123652C>G | CA370492255 | HR | c.1912G>C (p.Ala638Pro) c.1915G>C (p.Ala639Pro) | |
8 | g.22123652C>T | CA370492257 | HR | c.1912G>A (p.Ala638Thr) c.1915G>A (p.Ala639Thr) | |
8 | g.22123652_22123653insCCCCCCC | CA1111724392 | HR | c.1912_1913insGGGGGGG (p.Ala638GlyfsTer?) c.1915_1916insGGGGGGG (p.Ala639GlyfsTer?) | gnomAD v3 gnomAD v4 |
8 | g.22123652_22123653insCCCCCCCT | CA1111724395 | HR | c.1911_1912insAGGGGGGG (p.Ala638ArgfsTer25) c.1914_1915insAGGGGGGG (p.Ala639ArgfsTer25) | gnomAD v3 gnomAD v4 |
8 | g.22123652_22123653insCCCCCCCCT | CA2686436804 | HR | c.1911_1912insAGGGGGGGG (p.Lys637_Ala638insArgGlyGly) c.1914_1915insAGGGGGGGG (p.Lys638_Ala639insArgGlyGly) | gnomAD v4 |
8 | g.22123652_22123653insCCCCCCCTT | CA2686436805 | HR | c.1911_1912insAAGGGGGGG (p.Lys637_Ala638insLysGlyGly) c.1914_1915insAAGGGGGGG (p.Lys638_Ala639insLysGlyGly) | gnomAD v4 |
8 | g.22123653T>A | CA370492260 | HR | c.1911A>T (p.Lys637Asn) c.1914A>T (p.Lys638Asn) | |
8 | g.22123653T>C | CA459891675 | HR | c.1911A>G (p.Lys637=) c.1914A>G (p.Lys638=) | gnomAD v3 gnomAD v4 |
8 | g.22123653T>G | CA370492262 | HR | c.1911A>C (p.Lys637Asn) c.1914A>C (p.Lys638Asn) | |
8 | g.22123653_22123655del | CA2686436806 | HR | c.1909_1911del (p.Lys637del) c.1912_1914del (p.Lys638del) | gnomAD v4 |
8 | g.22123654T>A | CA370492265 | HR | c.1910A>T (p.Lys637Ile) c.1913A>T (p.Lys638Ile) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22123654T>C | CA370492270 | HR | c.1910A>G (p.Lys637Arg) c.1913A>G (p.Lys638Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.22123654T>G | CA370492267 | HR | c.1910A>C (p.Lys637Thr) c.1913A>C (p.Lys638Thr) | |
8 | g.22123654T= | CA1770267773 | HR | c.1910A= (p.Lys637=) c.1913A= (p.Lys638=) | |
8 | g.22123655T>A | CA370492274 | HR | c.1909A>T (p.Lys637Ter) c.1912A>T (p.Lys638Ter) | |
8 | g.22123655T>C | CA4662320 | HR | c.1909A>G (p.Lys637Glu) c.1912A>G (p.Lys638Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123655T>G | CA370492277 | HR | c.1909A>C (p.Lys637Gln) c.1912A>C (p.Lys638Gln) | |
8 | g.22123655T= | CA1770267777 | HR | c.1909A= (p.Lys637=) c.1912A= (p.Lys638=) | |
8 | g.22123656C>A | CA370492280 | HR | c.1908G>T (p.Glu636Asp) c.1911G>T (p.Glu637Asp) | |
8 | g.22123656C= | CA1770267783 | HR | c.1908G= (p.Glu636=) c.1911G= (p.Glu637=) | |
8 | g.22123656C>G | CA370492282 | HR | c.1908G>C (p.Glu636Asp) c.1911G>C (p.Glu637Asp) | |
8 | g.22123656C>T | CA459891677 | HR | c.1908G>A (p.Glu636=) c.1911G>A (p.Glu637=) | dbSNP gnomAD v4 |
8 | g.22123657T>A | CA370492284 | HR | c.1907A>T (p.Glu636Val) c.1910A>T (p.Glu637Val) | gnomAD v4 |
8 | g.22123657T>C | CA4662321 | HR | c.1907A>G (p.Glu636Gly) c.1910A>G (p.Glu637Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123657T>G | CA370492286 | HR | c.1907A>C (p.Glu636Ala) c.1910A>C (p.Glu637Ala) | |
8 | g.22123657T= | CA1770267788 | HR | c.1907A= (p.Glu636=) c.1910A= (p.Glu637=) | |
8 | g.22123658C>A | CA370492289 | HR | c.1906G>T (p.Glu636Ter) c.1909G>T (p.Glu637Ter) | |
8 | g.22123658C>G | CA370492290 | HR | c.1906G>C (p.Glu636Gln) c.1909G>C (p.Glu637Gln) | |
8 | g.22123658C>T | CA370492292 | HR | c.1906G>A (p.Glu636Lys) c.1909G>A (p.Glu637Lys) | gnomAD v4 |
8 | g.22123659C>A | CA370492296 | HR | c.1905G>T (p.Arg635Ser) c.1908G>T (p.Arg636Ser) | gnomAD v4 |
8 | g.22123659C>G | CA370492294 | HR | c.1905G>C (p.Arg635Ser) c.1908G>C (p.Arg636Ser) | |
8 | g.22123659C>T | CA459891683 | HR | c.1905G>A (p.Arg635=) c.1908G>A (p.Arg636=) | |
8 | g.22123660C>A | CA370492297 | HR | c.1904G>T (p.Arg635Met) c.1907G>T (p.Arg636Met) | gnomAD v4 |
8 | g.22123660C= | CA1770267806 | HR | c.1904G= (p.Arg635=) c.1907G= (p.Arg636=) | |
8 | g.22123660C>G | CA370492300 | HR | c.1904G>C (p.Arg635Thr) c.1907G>C (p.Arg636Thr) | |
8 | g.22123660C>T | CA370492298 | HR | c.1904G>A (p.Arg635Lys) c.1907G>A (p.Arg636Lys) | dbSNP gnomAD v4 |
8 | g.22123660_22123663delinsCTGG | CA1770267803 | HR | c.1901_1904delinsCCAG (p.Ala634=) c.1904_1907delinsCCAG (p.Ala635=) | |
8 | g.22123661T>A | CA370492302 | HR | c.1903A>T (p.Arg635Trp) c.1906A>T (p.Arg636Trp) | gnomAD v4 |
8 | g.22123661T>C | CA370492303 | HR | c.1903A>G (p.Arg635Gly) c.1906A>G (p.Arg636Gly) | gnomAD v4 |
8 | g.22123661T>G | CA459891692 | HR | c.1903A>C (p.Arg635=) c.1906A>C (p.Arg636=) | |
8 | g.22123661_22123663del | CA580950601 | HR | c.1901_1903del (p.Ala634_Arg635delinsGly) c.1904_1906del (p.Ala635_Arg636delinsGly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123662G>A | CA459891693 | HR | c.1902C>T (p.Ala634=) c.1905C>T (p.Ala635=) | gnomAD v4 |
8 | g.22123662G>C | CA459891696 | HR | c.1902C>G (p.Ala634=) c.1905C>G (p.Ala635=) | |
8 | g.22123662G>T | CA459891698 | HR | c.1902C>A (p.Ala634=) c.1905C>A (p.Ala635=) | gnomAD v4 |
8 | g.22123663G>A | CA370492305 | HR | c.1901C>T (p.Ala634Val) c.1904C>T (p.Ala635Val) | dbSNP gnomAD v4 |
8 | g.22123663G>C | CA370492306 | HR | c.1901C>G (p.Ala634Gly) c.1904C>G (p.Ala635Gly) | |
8 | g.22123663G>T | CA370492308 | HR | c.1901C>A (p.Ala634Asp) c.1904C>A (p.Ala635Asp) | gnomAD v4 |
8 | g.22123664C>A | CA370492309 | HR | c.1900G>T (p.Ala634Ser) c.1903G>T (p.Ala635Ser) | gnomAD v4 |
8 | g.22123664C>G | CA370492311 | HR | c.1900G>C (p.Ala634Pro) c.1903G>C (p.Ala635Pro) | |
8 | g.22123664C>T | CA370492313 | HR | c.1900G>A (p.Ala634Thr) c.1903G>A (p.Ala635Thr) | gnomAD v4 |
8 | g.22123665C>A | CA459891701 | HR | c.1899G>T (p.Arg633=) c.1902G>T (p.Arg634=) | |
8 | g.22123665C>G | CA459891703 | HR | c.1899G>C (p.Arg633=) c.1902G>C (p.Arg634=) | |
8 | g.22123665C>T | CA459891704 | HR | c.1899G>A (p.Arg633=) c.1902G>A (p.Arg634=) | |
8 | g.22123666C>A | CA370492315 | HR | c.1898G>T (p.Arg633Leu) c.1901G>T (p.Arg634Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.22123666C= | CA1770267819 | HR | c.1898G= (p.Arg633=) c.1901G= (p.Arg634=) | |
8 | g.22123666C>G | CA370492317 | HR | c.1898G>C (p.Arg633Pro) c.1901G>C (p.Arg634Pro) | |
8 | g.22123666C>T | CA370492318 | HR | c.1898G>A (p.Arg633Gln) c.1901G>A (p.Arg634Gln) | dbSNP gnomAD v4 COSMIC |
8 | g.22123667G>A | CA4662322 | HR | c.1897C>T (p.Arg633Trp) c.1900C>T (p.Arg634Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123667G>C | CA370492320 | HR | c.1897C>G (p.Arg633Gly) c.1900C>G (p.Arg634Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123667G= | CA1770267826 | HR | c.1897C= (p.Arg633=) c.1900C= (p.Arg634=) | |
8 | g.22123667G>T | CA173458127 | HR | c.1897C>A (p.Arg633=) c.1900C>A (p.Arg634=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123668C>A | CA173458132 | HR | c.1896G>T (p.Gly632=) c.1899G>T (p.Gly633=) | dbSNP |
8 | g.22123668C= | CA1770267830 | HR | c.1896G= (p.Gly632=) c.1899G= (p.Gly633=) | |
8 | g.22123668C>G | CA459891709 | HR | c.1896G>C (p.Gly632=) c.1899G>C (p.Gly633=) | |
8 | g.22123668C>T | CA459891710 | HR | c.1896G>A (p.Gly632=) c.1899G>A (p.Gly633=) | gnomAD v4 |
8 | g.22123670del | CA2842844387 | HR | c.1896del (p.Arg633GlyfsTer27) c.1899del (p.Arg634GlyfsTer27) | |
8 | g.22123669C>A | CA370492323 | HR | c.1895G>T (p.Gly632Val) c.1898G>T (p.Gly633Val) | gnomAD v4 |
8 | g.22123669C= | CA1770267834 | HR | c.1895G= (p.Gly632=) c.1898G= (p.Gly633=) | |
8 | g.22123669C>G | CA370492326 | HR | c.1895G>C (p.Gly632Ala) c.1898G>C (p.Gly633Ala) | |
8 | g.22123669C>T | CA370492324 | HR | c.1895G>A (p.Gly632Glu) c.1898G>A (p.Gly633Glu) | dbSNP |
8 | g.22123670C>A | CA370492328 | HR | c.1894G>T (p.Gly632Trp) c.1897G>T (p.Gly633Trp) | gnomAD v4 |
8 | g.22123670C>G | CA370492329 | HR | c.1894G>C (p.Gly632Arg) c.1897G>C (p.Gly633Arg) | |
8 | g.22123670C>T | CA370492331 | HR | c.1894G>A (p.Gly632Arg) c.1897G>A (p.Gly633Arg) | |
8 | g.22123671A= | CA1770267847 | HR | c.1893T= (p.Thr631=) c.1896T= (p.Thr632=) | |
8 | g.22123671A>C | CA459891714 | HR | c.1893T>G (p.Thr631=) c.1896T>G (p.Thr632=) | dbSNP gnomAD v4 |
8 | g.22123671A>G | CA4662323 | HR | c.1893T>C (p.Thr631=) c.1896T>C (p.Thr632=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123671A>T | CA459891719 | HR | c.1893T>A (p.Thr631=) c.1896T>A (p.Thr632=) | gnomAD v4 |
8 | g.22123672G>A | CA370492335 | HR | c.1892C>T (p.Thr631Ile) c.1895C>T (p.Thr632Ile) | gnomAD v4 |
8 | g.22123672G>C | CA370492337 | HR | c.1892C>G (p.Thr631Ser) c.1895C>G (p.Thr632Ser) | |
8 | g.22123672G>T | CA370492339 | HR | c.1892C>A (p.Thr631Asn) c.1895C>A (p.Thr632Asn) | |
8 | g.22123673T>A | CA370492341 | HR | c.1891A>T (p.Thr631Ser) c.1894A>T (p.Thr632Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123673T>C | CA370492343 | HR | c.1891A>G (p.Thr631Ala) c.1894A>G (p.Thr632Ala) | |
8 | g.22123673T>G | CA370492344 | HR | c.1891A>C (p.Thr631Pro) c.1894A>C (p.Thr632Pro) | |
8 | g.22123673T= | CA1770267849 | HR | c.1891A= (p.Thr631=) c.1894A= (p.Thr632=) | |
8 | g.22123674G>A | CA459891724 | HR | c.1890C>T (p.Gly630=) c.1893C>T (p.Gly631=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123674G>C | CA459891726 | HR | c.1890C>G (p.Gly630=) c.1893C>G (p.Gly631=) | |
8 | g.22123674G= | CA1770267850 | HR | c.1890C= (p.Gly630=) c.1893C= (p.Gly631=) | |
8 | g.22123674G>T | CA459891728 | HR | c.1890C>A (p.Gly630=) c.1893C>A (p.Gly631=) | gnomAD v4 |
8 | g.22123675C>A | CA370492348 | HR | c.1889G>T (p.Gly630Val) c.1892G>T (p.Gly631Val) | gnomAD v4 |
8 | g.22123675C= | CA1770267853 | HR | c.1889G= (p.Gly630=) c.1892G= (p.Gly631=) | |
8 | g.22123675C>G | CA370492349 | HR | c.1889G>C (p.Gly630Ala) c.1892G>C (p.Gly631Ala) | dbSNP |
8 | g.22123675C>T | CA4662324 | HR | c.1889G>A (p.Gly630Asp) c.1892G>A (p.Gly631Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123676C>A | CA370492350 | HR | c.1888G>T (p.Gly630Cys) c.1891G>T (p.Gly631Cys) | gnomAD v4 |
8 | g.22123676C>G | CA370492351 | HR | c.1888G>C (p.Gly630Arg) c.1891G>C (p.Gly631Arg) | |
8 | g.22123676C>T | CA370492353 | HR | c.1888G>A (p.Gly630Ser) c.1891G>A (p.Gly631Ser) | gnomAD v4 |
8 | g.22123677T>A | CA459891739 | HR | c.1887A>T (p.Ala629=) c.1890A>T (p.Ala630=) | |
8 | g.22123677T>C | CA459891738 | HR | c.1887A>G (p.Ala629=) c.1890A>G (p.Ala630=) | |
8 | g.22123677T>G | CA459891736 | HR | c.1887A>C (p.Ala629=) c.1890A>C (p.Ala630=) | |
8 | g.22123678G>A | CA370492354 | HR | c.1886C>T (p.Ala629Val) c.1889C>T (p.Ala630Val) | gnomAD v4 |
8 | g.22123678G>C | CA370492355 | HR | c.1886C>G (p.Ala629Gly) c.1889C>G (p.Ala630Gly) | |
8 | g.22123678G>T | CA370492356 | HR | c.1886C>A (p.Ala629Glu) c.1889C>A (p.Ala630Glu) | gnomAD v4 |
8 | g.22123679C>A | CA370492357 | HR | c.1885G>T (p.Ala629Ser) c.1888G>T (p.Ala630Ser) | gnomAD v4 |
8 | g.22123679C>G | CA370492358 | HR | c.1885G>C (p.Ala629Pro) c.1888G>C (p.Ala630Pro) | |
8 | g.22123679C>T | CA370492359 | HR | c.1885G>A (p.Ala629Thr) c.1888G>A (p.Ala630Thr) | gnomAD v4 |
8 | g.22123680C>A | CA459891746 | HR | c.1884G>T (p.Val628=) c.1887G>T (p.Val629=) | gnomAD v4 |
8 | g.22123680C>G | CA459891749 | HR | c.1884G>C (p.Val628=) c.1887G>C (p.Val629=) | |
8 | g.22123680C>T | CA459891750 | HR | c.1884G>A (p.Val628=) c.1887G>A (p.Val629=) | gnomAD v4 |
8 | g.22123681A>C | CA370492360 | HR | c.1883T>G (p.Val628Gly) c.1886T>G (p.Val629Gly) | |
8 | g.22123681A>G | CA370492361 | HR | c.1883T>C (p.Val628Ala) c.1886T>C (p.Val629Ala) | gnomAD v4 |
8 | g.22123681A>T | CA370492362 | HR | c.1883T>A (p.Val628Glu) c.1886T>A (p.Val629Glu) | |
8 | g.22123682C>A | CA370492364 | HR | c.1882G>T (p.Val628Leu) c.1885G>T (p.Val629Leu) | |
8 | g.22123682C>G | CA370492365 | HR | c.1882G>C (p.Val628Leu) c.1885G>C (p.Val629Leu) | gnomAD v4 |
8 | g.22123682C>T | CA370492363 | HR | c.1882G>A (p.Val628Met) c.1885G>A (p.Val629Met) | gnomAD v4 |
8 | g.22123683A= | CA1770267860 | HR | c.1881T= (p.Arg627=) c.1884T= (p.Arg628=) | |
8 | g.22123683A>C | CA459891753 | HR | c.1881T>G (p.Arg627=) c.1884T>G (p.Arg628=) | dbSNP |
8 | g.22123683A>G | CA459891755 | HR | c.1881T>C (p.Arg627=) c.1884T>C (p.Arg628=) | gnomAD v4 |
8 | g.22123683A>T | CA459891754 | HR | c.1881T>A (p.Arg627=) c.1884T>A (p.Arg628=) | |
8 | g.22123684C>A | CA4662325 | HR | c.1880G>T (p.Arg627Leu) c.1883G>T (p.Arg628Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.22123684C= | CA1770267865 | HR | c.1880G= (p.Arg627=) c.1883G= (p.Arg628=) | |
8 | g.22123684C>G | CA370492368 | HR | c.1880G>C (p.Arg627Pro) c.1883G>C (p.Arg628Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.22123684C>T | CA4662326 | HR | c.1880G>A (p.Arg627His) c.1883G>A (p.Arg628His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123685G>A | CA4662327 | HR | c.1879C>T (p.Arg627Cys) c.1882C>T (p.Arg628Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123685G>C | CA370492372 | HR | c.1879C>G (p.Arg627Gly) c.1882C>G (p.Arg628Gly) | |
8 | g.22123685G= | CA1770267873 | HR | c.1879C= (p.Arg627=) c.1882C= (p.Arg628=) | |
8 | g.22123685G>T | CA370492374 | HR | c.1879C>A (p.Arg627Ser) c.1882C>A (p.Arg628Ser) | gnomAD v4 |
8 | g.22123686A= | CA1770267879 | HR | c.1878T= (p.Gly626=) c.1881T= (p.Gly627=) | |
8 | g.22123686A>C | CA459891763 | HR | c.1878T>G (p.Gly626=) c.1881T>G (p.Gly627=) | |
8 | g.22123686A>G | CA459891766 | HR | c.1878T>C (p.Gly626=) c.1881T>C (p.Gly627=) | dbSNP |
8 | g.22123686A>T | CA459891767 | HR | c.1878T>A (p.Gly626=) c.1881T>A (p.Gly627=) | |
8 | g.22123687C>A | CA370492380 | HR | c.1877G>T (p.Gly626Val) c.1880G>T (p.Gly627Val) | |
8 | g.22123687C>G | CA370492376 | HR | c.1877G>C (p.Gly626Ala) c.1880G>C (p.Gly627Ala) | dbSNP |
8 | g.22123687C>T | CA370492378 | HR | c.1877G>A (p.Gly626Asp) c.1880G>A (p.Gly627Asp) | gnomAD v4 |
8 | g.22123688del | CA2842844388 | HR | c.1877del (p.Gly626ValfsTer?) c.1880del (p.Gly627ValfsTer?) | |
8 | g.22123688C>A | CA370492381 | HR | c.1876G>T (p.Gly626Cys) c.1879G>T (p.Gly627Cys) | gnomAD v4 |
8 | g.22123688C>G | CA370492382 | HR | c.1876G>C (p.Gly626Arg) c.1879G>C (p.Gly627Arg) | |
8 | g.22123688C>T | CA370492384 | HR | c.1876G>A (p.Gly626Ser) c.1879G>A (p.Gly627Ser) | gnomAD v4 |
8 | g.22123689A>C | CA370492386 | HR | c.1875T>G (p.Cys625Trp) c.1878T>G (p.Cys626Trp) | gnomAD v4 |
8 | g.22123689A>G | CA459891775 | HR | c.1875T>C (p.Cys625=) c.1878T>C (p.Cys626=) | |
8 | g.22123689A>T | CA370492388 | HR | c.1875T>A (p.Cys625Ter) c.1878T>A (p.Cys626Ter) | |
8 | g.22123690C>A | CA370492389 | HR | c.1874G>T (p.Cys625Phe) c.1877G>T (p.Cys626Phe) | |
8 | g.22123690C>G | CA370492392 | HR | c.1874G>C (p.Cys625Ser) c.1877G>C (p.Cys626Ser) | |
8 | g.22123690C>T | CA370492391 | HR | c.1874G>A (p.Cys625Tyr) c.1877G>A (p.Cys626Tyr) | gnomAD v4 |
8 | g.22123691A>C | CA370492393 | HR | c.1873T>G (p.Cys625Gly) c.1876T>G (p.Cys626Gly) | |
8 | g.22123691A>G | CA370492397 | HR | c.1873T>C (p.Cys625Arg) c.1876T>C (p.Cys626Arg) | gnomAD v4 |
8 | g.22123691A>T | CA370492395 | HR | c.1873T>A (p.Cys625Ser) c.1876T>A (p.Cys626Ser) | gnomAD v4 |
8 | g.22123692G>A | CA459891782 | HR | c.1872C>T (p.Ala624=) c.1875C>T (p.Ala625=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.22123692G>C | CA459891785 | HR | c.1872C>G (p.Ala624=) c.1875C>G (p.Ala625=) | |
8 | g.22123692G= | CA1770267882 | HR | c.1872C= (p.Ala624=) c.1875C= (p.Ala625=) | |
8 | g.22123692G>T | CA459891787 | HR | c.1872C>A (p.Ala624=) c.1875C>A (p.Ala625=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22123693G>A | CA370492399 | HR | c.1871C>T (p.Ala624Val) c.1874C>T (p.Ala625Val) | gnomAD v4 |
8 | g.22123693G>C | CA370492402 | HR | c.1871C>G (p.Ala624Gly) c.1874C>G (p.Ala625Gly) | |
8 | g.22123693G>T | CA370492400 | HR | c.1871C>A (p.Ala624Asp) c.1874C>A (p.Ala625Asp) | gnomAD v4 |
8 | g.22123694C>A | CA370492403 | HR | c.1870G>T (p.Ala624Ser) c.1873G>T (p.Ala625Ser) | gnomAD v4 |
8 | g.22123694C>G | CA370492405 | HR | c.1870G>C (p.Ala624Pro) c.1873G>C (p.Ala625Pro) | |
8 | g.22123694C>T | CA370492407 | HR | c.1870G>A (p.Ala624Thr) c.1873G>A (p.Ala625Thr) | gnomAD v4 |
8 | g.22123695C>A | CA4662328 | HR | c.1869G>T (p.Val623=) c.1872G>T (p.Val624=) | dbSNP ExAC gnomAD v4 |
8 | g.22123695C= | CA1770267890 | HR | c.1869G= (p.Val623=) c.1872G= (p.Val624=) | |
8 | g.22123695C>G | CA459891794 | HR | c.1869G>C (p.Val623=) c.1872G>C (p.Val624=) | |
8 | g.22123695C>T | CA459891797 | HR | c.1869G>A (p.Val623=) c.1872G>A (p.Val624=) | |
8 | g.22123696del | CA2838991112 | HR | c.1868del (p.Val623GlyfsTer?) c.1871del (p.Val624GlyfsTer?) | |
8 | g.22123696A>C | CA370492411 | HR | c.1868T>G (p.Val623Gly) c.1871T>G (p.Val624Gly) | |
8 | g.22123696A>G | CA370492413 | HR | c.1868T>C (p.Val623Ala) c.1871T>C (p.Val624Ala) | gnomAD v4 |
8 | g.22123696A>T | CA370492414 | HR | c.1868T>A (p.Val623Glu) c.1871T>A (p.Val624Glu) | gnomAD v4 |
8 | g.22123697C>A | CA370492417 | HR | c.1867G>T (p.Val623Leu) c.1870G>T (p.Val624Leu) | gnomAD v4 |
8 | g.22123697C>G | CA370492418 | HR | c.1867G>C (p.Val623Leu) c.1870G>C (p.Val624Leu) | |
8 | g.22123697C>T | CA370492419 | HR | c.1867G>A (p.Val623Met) c.1870G>A (p.Val624Met) | gnomAD v4 |
8 | g.22123698A= | CA1770267904 | HR | c.1866T= (p.Cys622=) c.1869T= (p.Cys623=) | |
8 | g.22123698A>C | CA370492421 | HR | c.1866T>G (p.Cys622Trp) c.1869T>G (p.Cys623Trp) | |
8 | g.22123698A>G | CA459891803 | HR | c.1866T>C (p.Cys622=) c.1869T>C (p.Cys623=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.22123698A>T | CA370492423 | HR | c.1866T>A (p.Cys622Ter) c.1869T>A (p.Cys623Ter) | gnomAD v4 |
8 | g.22123699C>A | CA370492429 | HR | c.1865G>T (p.Cys622Phe) c.1868G>T (p.Cys623Phe) | gnomAD v4 |
8 | g.22123699C>G | CA370492425 | HR | c.1865G>C (p.Cys622Ser) c.1868G>C (p.Cys623Ser) | |
8 | g.22123699C>T | CA370492426 | HR | c.1865G>A (p.Cys622Tyr) c.1868G>A (p.Cys623Tyr) | gnomAD v4 |
8 | g.22123700A= | CA1770267910 | HR | c.1864T= (p.Cys622=) c.1867T= (p.Cys623=) | |
8 | g.22123700A>C | CA4662329 | HR | c.1864T>G (p.Cys622Gly) c.1867T>G (p.Cys623Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123700A>G | CA370492432 | HR | c.1864T>C (p.Cys622Arg) c.1867T>C (p.Cys623Arg) | gnomAD v4 |
8 | g.22123700A>T | CA370492434 | HR | c.1864T>A (p.Cys622Ser) c.1867T>A (p.Cys623Ser) | |
8 | g.22123701C>A | CA459891811 | HR | c.1863G>T (p.Leu621=) c.1866G>T (p.Leu622=) | gnomAD v4 |
8 | g.22123701C= | CA1770267915 | HR | c.1863G= (p.Leu621=) c.1866G= (p.Leu622=) | |
8 | g.22123701C>G | CA459891813 | HR | c.1863G>C (p.Leu621=) c.1866G>C (p.Leu622=) | |
8 | g.22123701C>T | CA4662330 | HR | c.1863G>A (p.Leu621=) c.1866G>A (p.Leu622=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123701_22123703delinsCAG | CA1770267917 | HR | c.1861_1863delinsCTG (p.Leu621=) c.1864_1866delinsCTG (p.Leu622=) | |
8 | g.22123702A>C | CA370492438 | HR | c.1862T>G (p.Leu621Arg) c.1865T>G (p.Leu622Arg) | |
8 | g.22123702A>G | CA370492439 | HR | c.1862T>C (p.Leu621Pro) c.1865T>C (p.Leu622Pro) | |
8 | g.22123702A>T | CA370492441 | HR | c.1862T>A (p.Leu621Gln) c.1865T>A (p.Leu622Gln) | |
8 | g.22123702_22123703del | CA580950602 | HR | c.1861_1862del (p.Leu621ValfsTer?) c.1864_1865del (p.Leu622ValfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22123703G>A | CA459891818 | HR | c.1861C>T (p.Leu621=) c.1864C>T (p.Leu622=) | |
8 | g.22123703G>C | CA370492443 | HR | c.1861C>G (p.Leu621Val) c.1864C>G (p.Leu622Val) | |
8 | g.22123703G>T | CA370492444 | HR | c.1861C>A (p.Leu621Met) c.1864C>A (p.Leu622Met) | gnomAD v4 |
8 | g.22123704C>A | CA459891822 | HR | c.1860G>T (p.Arg620=) c.1863G>T (p.Arg621=) | gnomAD v4 |
8 | g.22123704C>G | CA459891823 | HR | c.1860G>C (p.Arg620=) c.1863G>C (p.Arg621=) | |
8 | g.22123704C>T | CA459891824 | HR | c.1860G>A (p.Arg620=) c.1863G>A (p.Arg621=) | gnomAD v4 |
8 | g.22123705C>A | CA370492446 | HR | c.1859G>T (p.Arg620Leu) c.1862G>T (p.Arg621Leu) | gnomAD v4 |
8 | g.22123705C= | CA1770267926 | HR | c.1859G= (p.Arg620=) c.1862G= (p.Arg621=) | |
8 | g.22123705C>G | CA370492447 | HR | c.1859G>C (p.Arg620Pro) c.1862G>C (p.Arg621Pro) | |
8 | g.22123705C>T | CA4662331 | HR | c.1859G>A (p.Arg620Gln) c.1862G>A (p.Arg621Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123706G>A | CA4662333 | HR | c.1858C>T (p.Arg620Trp) c.1861C>T (p.Arg621Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123706G>C | CA4662332 | HR | c.1858C>G (p.Arg620Gly) c.1861C>G (p.Arg621Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123706G= | CA1770267947 | HR | c.1858C= (p.Arg620=) c.1861C= (p.Arg621=) | |
8 | g.22123706G>T | CA459891827 | HR | c.1858C>A (p.Arg620=) c.1861C>A (p.Arg621=) | gnomAD v4 |
8 | g.22123707G>A | CA459891831 | HR | c.1857C>T (p.His619=) c.1860C>T (p.His620=) | gnomAD v4 |
8 | g.22123707G>C | CA370492449 | HR | c.1857C>G (p.His619Gln) c.1860C>G (p.His620Gln) | |
8 | g.22123707G>T | CA370492450 | HR | c.1857C>A (p.His619Gln) c.1860C>A (p.His620Gln) | gnomAD v4 |
8 | g.22123708T>A | CA370492452 | HR | c.1856A>T (p.His619Leu) c.1859A>T (p.His620Leu) | |
8 | g.22123708T>C | CA370492453 | HR | c.1856A>G (p.His619Arg) c.1859A>G (p.His620Arg) | |
8 | g.22123708T>G | CA370492454 | HR | c.1856A>C (p.His619Pro) c.1859A>C (p.His620Pro) | gnomAD v4 |
8 | g.22123709G>A | CA370492455 | HR | c.1855C>T (p.His619Tyr) c.1858C>T (p.His620Tyr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22123709G>C | CA370492456 | HR | c.1855C>G (p.His619Asp) c.1858C>G (p.His620Asp) | gnomAD v4 |
8 | g.22123709G= | CA1770267954 | HR | c.1855C= (p.His619=) c.1858C= (p.His620=) | |
8 | g.22123709G>T | CA370492459 | HR | c.1855C>A (p.His619Asn) c.1858C>A (p.His620Asn) | dbSNP gnomAD v4 |
8 | g.22123718_22123768del | CA2686436807 | HR | c.1805_1855del (p.Arg602_Ser618del) c.1808_1858del (p.Arg603_Ser619del) | gnomAD v4 |
8 | g.22123710G>A | CA459891837 | HR | c.1854C>T (p.Ser618=) c.1857C>T (p.Ser619=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22123710G>C | CA370492461 | HR | c.1854C>G (p.Ser618Arg) c.1857C>G (p.Ser619Arg) | |
8 | g.22123710G= | CA1770267959 | HR | c.1854C= (p.Ser618=) c.1857C= (p.Ser619=) | |
8 | g.22123710G>T | CA370492463 | HR | c.1854C>A (p.Ser618Arg) c.1857C>A (p.Ser619Arg) | gnomAD v4 |
8 | g.22123711C>A | CA4662334 | HR | c.1853G>T (p.Ser618Ile) c.1856G>T (p.Ser619Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.22123711C= | CA1770267965 | HR | c.1853G= (p.Ser618=) c.1856G= (p.Ser619=) | |
8 | g.22123711C>G | CA370492466 | HR | c.1853G>C (p.Ser618Thr) c.1856G>C (p.Ser619Thr) | gnomAD v4 |
8 | g.22123711C>T | CA4662335 | HR | c.1853G>A (p.Ser618Asn) c.1856G>A (p.Ser619Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123712T>A | CA370492472 | HR | c.1852A>T (p.Ser618Cys) c.1855A>T (p.Ser619Cys) | |
8 | g.22123712T>C | CA370492469 | HR | c.1852A>G (p.Ser618Gly) c.1855A>G (p.Ser619Gly) | gnomAD v4 |
8 | g.22123712T>G | CA370492470 | HR | c.1852A>C (p.Ser618Arg) c.1855A>C (p.Ser619Arg) | |
8 | g.22123713G>A | CA4662336 | HR | c.1851C>T (p.Cys617=) c.1854C>T (p.Cys618=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.22123713G>C | CA370492475 | HR | c.1851C>G (p.Cys617Trp) c.1854C>G (p.Cys618Trp) | |
8 | g.22123713G= | CA1770267979 | HR | c.1851C= (p.Cys617=) c.1854C= (p.Cys618=) | |
8 | g.22123713G>T | CA370492477 | HR | c.1851C>A (p.Cys617Ter) c.1854C>A (p.Cys618Ter) | gnomAD v4 |
8 | g.22123714C>A | CA370492479 | HR | c.1850G>T (p.Cys617Phe) c.1853G>T (p.Cys618Phe) | gnomAD v4 |
8 | g.22123714C>G | CA370492481 | HR | c.1850G>C (p.Cys617Ser) c.1853G>C (p.Cys618Ser) | |
8 | g.22123714C>T | CA370492483 | HR | c.1850G>A (p.Cys617Tyr) c.1853G>A (p.Cys618Tyr) | gnomAD v4 |
8 | g.22123715A>C | CA370492485 | HR | c.1849T>G (p.Cys617Gly) c.1852T>G (p.Cys618Gly) | |
8 | g.22123715A>G | CA370492486 | HR | c.1849T>C (p.Cys617Arg) c.1852T>C (p.Cys618Arg) | gnomAD v4 |
8 | g.22123715A>T | CA370492487 | HR | c.1849T>A (p.Cys617Ser) c.1852T>A (p.Cys618Ser) | |
8 | g.22123716G>A | CA459891843 | HR | c.1848C>T (p.Arg616=) c.1851C>T (p.Arg617=) | gnomAD v4 COSMIC |
8 | g.22123716G>C | CA459891844 | HR | c.1848C>G (p.Arg616=) c.1851C>G (p.Arg617=) | |
8 | g.22123716G>T | CA459891845 | HR | c.1848C>A (p.Arg616=) c.1851C>A (p.Arg617=) | gnomAD v4 |
8 | g.22123717C>A | CA370492488 | HR | c.1847G>T (p.Arg616Leu) c.1850G>T (p.Arg617Leu) | gnomAD v4 |
8 | g.22123717C= | CA1770267984 | HR | c.1847G= (p.Arg616=) c.1850G= (p.Arg617=) | |
8 | g.22123717C>G | CA370492489 | HR | c.1847G>C (p.Arg616Pro) c.1850G>C (p.Arg617Pro) | gnomAD v4 |
8 | g.22123717C>T | CA4662337 | HR | c.1847G>A (p.Arg616His) c.1850G>A (p.Arg617His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123718G>A | CA370492492 | HR | c.1846C>T (p.Arg616Cys) c.1849C>T (p.Arg617Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123718G>C | CA370492497 | HR | c.1846C>G (p.Arg616Gly) c.1849C>G (p.Arg617Gly) | dbSNP |
8 | g.22123718G= | CA1770267992 | HR | c.1846C= (p.Arg616=) c.1849C= (p.Arg617=) | |
8 | g.22123718G>T | CA370492495 | HR | c.1846C>A (p.Arg616Ser) c.1849C>A (p.Arg617Ser) | gnomAD v4 |
8 | g.22123721del | CA2686436808 | HR | c.1846del (p.Arg616AlafsTer?) c.1849del (p.Arg617AlafsTer?) | gnomAD v4 |
8 | g.22123719G>A | CA459891851 | HR | c.1845C>T (p.Pro615=) c.1848C>T (p.Pro616=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22123719G>C | CA459891850 | HR | c.1845C>G (p.Pro615=) c.1848C>G (p.Pro616=) | |
8 | g.22123719G= | CA1770267996 | HR | c.1845C= (p.Pro615=) c.1848C= (p.Pro616=) | |
8 | g.22123719G>T | CA459891849 | HR | c.1845C>A (p.Pro615=) c.1848C>A (p.Pro616=) | gnomAD v4 |
8 | g.22123720G>A | CA370492499 | HR | c.1844C>T (p.Pro615Leu) c.1847C>T (p.Pro616Leu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22123720G>C | CA370492504 | HR | c.1844C>G (p.Pro615Arg) c.1847C>G (p.Pro616Arg) | |
8 | g.22123720G= | CA1770268000 | HR | c.1844C= (p.Pro615=) c.1847C= (p.Pro616=) | |
8 | g.22123720G>T | CA370492502 | HR | c.1844C>A (p.Pro615His) c.1847C>A (p.Pro616His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123721G>A | CA370492506 | HR | c.1843C>T (p.Pro615Ser) c.1846C>T (p.Pro616Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22123721G>C | CA370492507 | HR | c.1843C>G (p.Pro615Ala) c.1846C>G (p.Pro616Ala) | |
8 | g.22123721G= | CA1770268006 | HR | c.1843C= (p.Pro615=) c.1846C= (p.Pro616=) | |
8 | g.22123721G>T | CA370492510 | HR | c.1843C>A (p.Pro615Thr) c.1846C>A (p.Pro616Thr) | gnomAD v4 |
8 | g.22123722A>C | CA370492512 | HR | c.1842T>G (p.Cys614Trp) c.1845T>G (p.Cys615Trp) | |
8 | g.22123722A>G | CA459891857 | HR | c.1842T>C (p.Cys614=) c.1845T>C (p.Cys615=) | |
8 | g.22123722A>T | CA370492514 | HR | c.1842T>A (p.Cys614Ter) c.1845T>A (p.Cys615Ter) | gnomAD v4 |
8 | g.22123723C>A | CA370492517 | HR | c.1841G>T (p.Cys614Phe) c.1844G>T (p.Cys615Phe) | gnomAD v4 |
8 | g.22123723C= | CA1770268010 | HR | c.1841G= (p.Cys614=) c.1844G= (p.Cys615=) | |
8 | g.22123723C>G | CA370492518 | HR | c.1841G>C (p.Cys614Ser) c.1844G>C (p.Cys615Ser) | |
8 | g.22123723C>T | CA4662338 | HR | c.1841G>A (p.Cys614Tyr) c.1844G>A (p.Cys615Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123724_22123726del | CA2695208965 | HR | c.1839_1841del (p.Cys614del) c.1842_1844del (p.Cys615del) | |
8 | g.22123724A= | CA1770268014 | HR | c.1840T= (p.Cys614=) c.1843T= (p.Cys615=) | |
8 | g.22123724A>C | CA370492520 | HR | c.1840T>G (p.Cys614Gly) c.1843T>G (p.Cys615Gly) | |
8 | g.22123724A>G | CA370492522 | HR | c.1840T>C (p.Cys614Arg) c.1843T>C (p.Cys615Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22123724A>T | CA370492523 | HR | c.1840T>A (p.Cys614Ser) c.1843T>A (p.Cys615Ser) | dbSNP |
8 | g.22123725T>A | CA459891862 | HR | c.1839A>T (p.Arg613=) c.1842A>T (p.Arg614=) | gnomAD v4 |
8 | g.22123725T>C | CA459891864 | HR | c.1839A>G (p.Arg613=) c.1842A>G (p.Arg614=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.22123725T>G | CA459891863 | HR | c.1839A>C (p.Arg613=) c.1842A>C (p.Arg614=) | |
8 | g.22123725T= | CA1770268016 | HR | c.1839A= (p.Arg613=) c.1842A= (p.Arg614=) | |
8 | g.22123726C>A | CA370492529 | HR | c.1838G>T (p.Arg613Leu) c.1841G>T (p.Arg614Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.22123726C= | CA1770268019 | HR | c.1838G= (p.Arg613=) c.1841G= (p.Arg614=) | |
8 | g.22123726C>G | CA370492526 | HR | c.1838G>C (p.Arg613Pro) c.1841G>C (p.Arg614Pro) | gnomAD v4 |
8 | g.22123726C>T | CA370492528 | HR | c.1838G>A (p.Arg613Gln) c.1841G>A (p.Arg614Gln) | dbSNP gnomAD v4 |
8 | g.22123727G>A | CA118720 | HR | c.1837C>T (p.Arg613Ter) c.1840C>T (p.Arg614Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.22123727G>C | CA370492530 | HR | c.1837C>G (p.Arg613Gly) c.1840C>G (p.Arg614Gly) | gnomAD v4 |
8 | g.22123727G= | CA1770268026 | HR | c.1837C= (p.Arg613=) c.1840C= (p.Arg614=) | |
8 | g.22123727G>T | CA459891868 | HR | c.1837C>A (p.Arg613=) c.1840C>A (p.Arg614=) | gnomAD v4 |
8 | g.22123728C>A | CA370492531 | HR | c.1836G>T (p.Trp612Cys) c.1839G>T (p.Trp613Cys) | gnomAD v4 |
8 | g.22123728C>G | CA370492532 | HR | c.1836G>C (p.Trp612Cys) c.1839G>C (p.Trp613Cys) | |
8 | g.22123728C>T | CA370492533 | HR | c.1836G>A (p.Trp612Ter) c.1839G>A (p.Trp613Ter) | gnomAD v4 |
8 | g.22123729C>A | CA370492534 | HR | c.1835G>T (p.Trp612Leu) c.1838G>T (p.Trp613Leu) | gnomAD v4 |
8 | g.22123729C>G | CA370492535 | HR | c.1835G>C (p.Trp612Ser) c.1838G>C (p.Trp613Ser) | gnomAD v4 |
8 | g.22123729C>T | CA370492536 | HR | c.1835G>A (p.Trp612Ter) c.1838G>A (p.Trp613Ter) | |
8 | g.22123730A= | CA1770268030 | HR | c.1834T= (p.Trp612=) c.1837T= (p.Trp613=) | |
8 | g.22123730A>C | CA173458163 | HR | c.1834T>G (p.Trp612Gly) c.1837T>G (p.Trp613Gly) | dbSNP gnomAD v4 |
8 | g.22123730A>G | CA370492538 | HR | c.1834T>C (p.Trp612Arg) c.1837T>C (p.Trp613Arg) | |
8 | g.22123730A>T | CA370492539 | HR | c.1834T>A (p.Trp612Arg) c.1837T>A (p.Trp613Arg) | gnomAD v4 |
8 | g.22123731G>A | CA459891872 | HR | c.1833C>T (p.His611=) c.1836C>T (p.His612=) | dbSNP gnomAD v4 |
8 | g.22123731G>C | CA370492542 | HR | c.1833C>G (p.His611Gln) c.1836C>G (p.His612Gln) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.22123731G= | CA1770268038 | HR | c.1833C= (p.His611=) c.1836C= (p.His612=) | |
8 | g.22123731G>T | CA370492540 | HR | c.1833C>A (p.His611Gln) c.1836C>A (p.His612Gln) | gnomAD v4 |
8 | g.22123732T>A | CA370492545 | HR | c.1832A>T (p.His611Leu) c.1835A>T (p.His612Leu) | |
8 | g.22123732T>C | CA370492546 | HR | c.1832A>G (p.His611Arg) c.1835A>G (p.His612Arg) | gnomAD v4 |
8 | g.22123732T>G | CA370492548 | HR | c.1832A>C (p.His611Pro) c.1835A>C (p.His612Pro) | gnomAD v4 |
8 | g.22123733G>A | CA370492550 | HR | c.1831C>T (p.His611Tyr) c.1834C>T (p.His612Tyr) | gnomAD v4 |
8 | g.22123733G>C | CA4662339 | HR | c.1831C>G (p.His611Asp) c.1834C>G (p.His612Asp) | dbSNP ExAC gnomAD v2 |
8 | g.22123733G= | CA1770268045 | HR | c.1831C= (p.His611=) c.1834C= (p.His612=) | |
8 | g.22123733G>T | CA370492551 | HR | c.1831C>A (p.His611Asn) c.1834C>A (p.His612Asn) | gnomAD v4 |
8 | g.22123734G>A | CA173458175 | HR | c.1830C>T (p.Thr610=) c.1833C>T (p.Thr611=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.22123734G>C | CA459891875 | HR | c.1830C>G (p.Thr610=) c.1833C>G (p.Thr611=) | |
8 | g.22123734G= | CA1770268047 | HR | c.1830C= (p.Thr610=) c.1833C= (p.Thr611=) | |
8 | g.22123734G>T | CA459891877 | HR | c.1830C>A (p.Thr610=) c.1833C>A (p.Thr611=) | gnomAD v4 |
8 | g.22123735G>A | CA370492556 | HR | c.1829C>T (p.Thr610Ile) c.1832C>T (p.Thr611Ile) | gnomAD v4 |
8 | g.22123735G>C | CA370492553 | HR | c.1829C>G (p.Thr610Ser) c.1832C>G (p.Thr611Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22123735G= | CA1770268053 | HR | c.1829C= (p.Thr610=) c.1832C= (p.Thr611=) | |
8 | g.22123735G>T | CA370492554 | HR | c.1829C>A (p.Thr610Asn) c.1832C>A (p.Thr611Asn) | gnomAD v4 |
8 | g.22123736T>A | CA370492558 | HR | c.1828A>T (p.Thr610Ser) c.1831A>T (p.Thr611Ser) | |
8 | g.22123736T>C | CA370492559 | HR | c.1828A>G (p.Thr610Ala) c.1831A>G (p.Thr611Ala) | |
8 | g.22123736T>G | CA370492560 | HR | c.1828A>C (p.Thr610Pro) c.1831A>C (p.Thr611Pro) | dbSNP |
8 | g.22123736T= | CA1770268057 | HR | c.1828A= (p.Thr610=) c.1831A= (p.Thr611=) | |
8 | g.22123737G>A | CA459891884 | HR | c.1827C>T (p.Asn609=) c.1830C>T (p.Asn610=) | |
8 | g.22123737G>C | CA370492562 | HR | c.1827C>G (p.Asn609Lys) c.1830C>G (p.Asn610Lys) | |
8 | g.22123737G>T | CA370492564 | HR | c.1827C>A (p.Asn609Lys) c.1830C>A (p.Asn610Lys) | gnomAD v4 COSMIC |
8 | g.22123738T>A | CA370492566 | HR | c.1826A>T (p.Asn609Ile) c.1829A>T (p.Asn610Ile) | |
8 | g.22123738T>C | CA370492570 | HR | c.1826A>G (p.Asn609Ser) c.1829A>G (p.Asn610Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123738T>G | CA370492568 | HR | c.1826A>C (p.Asn609Thr) c.1829A>C (p.Asn610Thr) | |
8 | g.22123738T= | CA1770268059 | HR | c.1826A= (p.Asn609=) c.1829A= (p.Asn610=) | |
8 | g.22123739T>A | CA370492571 | HR | c.1825A>T (p.Asn609Tyr) c.1828A>T (p.Asn610Tyr) | |
8 | g.22123739T>C | CA370492573 | HR | c.1825A>G (p.Asn609Asp) c.1828A>G (p.Asn610Asp) | gnomAD v4 |
8 | g.22123739T>G | CA370492574 | HR | c.1825A>C (p.Asn609His) c.1828A>C (p.Asn610His) | |
8 | g.22123740del | CA2839954677 | HR | c.1824del (p.Phe608LeufsTer?) c.1827del (p.Phe609LeufsTer?) | |
8 | g.22123740G>A | CA459891890 | HR | c.1824C>T (p.Phe608=) c.1827C>T (p.Phe609=) | gnomAD v4 |
8 | g.22123740G>C | CA370492578 | HR | c.1824C>G (p.Phe608Leu) c.1827C>G (p.Phe609Leu) | |
8 | g.22123740G>T | CA370492580 | HR | c.1824C>A (p.Phe608Leu) c.1827C>A (p.Phe609Leu) | gnomAD v4 |
8 | g.22123741A>C | CA370492583 | HR | c.1823T>G (p.Phe608Cys) c.1826T>G (p.Phe609Cys) | |
8 | g.22123741A>G | CA370492586 | HR | c.1823T>C (p.Phe608Ser) c.1826T>C (p.Phe609Ser) | gnomAD v4 |
8 | g.22123741A>T | CA370492589 | HR | c.1823T>A (p.Phe608Tyr) c.1826T>A (p.Phe609Tyr) | |
8 | g.22123742A= | CA1770268062 | HR | c.1822T= (p.Phe608=) c.1825T= (p.Phe609=) | |
8 | g.22123742A>C | CA370492591 | HR | c.1822T>G (p.Phe608Val) c.1825T>G (p.Phe609Val) | |
8 | g.22123742A>G | CA4662340 | HR | c.1822T>C (p.Phe608Leu) c.1825T>C (p.Phe609Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123742A>T | CA370492596 | HR | c.1822T>A (p.Phe608Ile) c.1825T>A (p.Phe609Ile) | |
8 | g.22123743G>A | CA459891895 | HR | c.1821C>T (p.Leu607=) c.1824C>T (p.Leu608=) | |
8 | g.22123743G>C | CA459891896 | HR | c.1821C>G (p.Leu607=) c.1824C>G (p.Leu608=) | |
8 | g.22123743G>T | CA459891897 | HR | c.1821C>A (p.Leu607=) c.1824C>A (p.Leu608=) | gnomAD v4 |
8 | g.22123744A>C | CA370492602 | HR | c.1820T>G (p.Leu607Arg) c.1823T>G (p.Leu608Arg) | |
8 | g.22123744A>G | CA370492605 | HR | c.1820T>C (p.Leu607Pro) c.1823T>C (p.Leu608Pro) | |
8 | g.22123744A>T | CA370492599 | HR | c.1820T>A (p.Leu607His) c.1823T>A (p.Leu608His) | |
8 | g.22123745G>A | CA370492612 | HR | c.1819C>T (p.Leu607Phe) c.1822C>T (p.Leu608Phe) | gnomAD v4 |
8 | g.22123745G>C | CA370492608 | HR | c.1819C>G (p.Leu607Val) c.1822C>G (p.Leu608Val) | |
8 | g.22123745G>T | CA370492610 | HR | c.1819C>A (p.Leu607Ile) c.1822C>A (p.Leu608Ile) | gnomAD v4 |
8 | g.22123746T>A | CA459891905 | HR | c.1818A>T (p.Gly606=) c.1821A>T (p.Gly607=) | dbSNP gnomAD v4 |
8 | g.22123746T>C | CA459891906 | HR | c.1818A>G (p.Gly606=) c.1821A>G (p.Gly607=) | gnomAD v4 |
8 | g.22123746T>G | CA459891908 | HR | c.1818A>C (p.Gly606=) c.1821A>C (p.Gly607=) | |
8 | g.22123746T= | CA1770268067 | HR | c.1818A= (p.Gly606=) c.1821A= (p.Gly607=) | |
8 | g.22123747C>A | CA370492615 | HR | c.1817G>T (p.Gly606Val) c.1820G>T (p.Gly607Val) | gnomAD v4 |
8 | g.22123747C= | CA1770268068 | HR | c.1817G= (p.Gly606=) c.1820G= (p.Gly607=) | |
8 | g.22123747C>G | CA370492617 | HR | c.1817G>C (p.Gly606Ala) c.1820G>C (p.Gly607Ala) | gnomAD v4 |
8 | g.22123747C>T | CA370492620 | HR | c.1817G>A (p.Gly606Glu) c.1820G>A (p.Gly607Glu) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.22123748C>A | CA370492623 | HR | c.1816G>T (p.Gly606Ter) c.1819G>T (p.Gly607Ter) | |
8 | g.22123748C= | CA1770268072 | HR | c.1816G= (p.Gly606=) c.1819G= (p.Gly607=) | |
8 | g.22123748C>G | CA370492626 | HR | c.1816G>C (p.Gly606Arg) c.1819G>C (p.Gly607Arg) | |
8 | g.22123748C>T | CA370492629 | HR | c.1816G>A (p.Gly606Arg) c.1819G>A (p.Gly607Arg) | dbSNP gnomAD v4 |
8 | g.22123749A= | CA1770268082 | HR | c.1815T= (p.His605=) c.1818T= (p.His606=) | |
8 | g.22123749A>C | CA370492632 | HR | c.1815T>G (p.His605Gln) c.1818T>G (p.His606Gln) | |
8 | g.22123749A>G | CA173458179 | HR | c.1815T>C (p.His605=) c.1818T>C (p.His606=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.22123749A>T | CA370492635 | HR | c.1815T>A (p.His605Gln) c.1818T>A (p.His606Gln) | dbSNP gnomAD v2 |