Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47300488del | CA2638437202 | ITGB3 | c.1924del (p.Glu642SerfsTer27) c.1889del | gnomAD v4 |
17 | g.47300488G>A | CA400032860 | ITGB3 | c.1924G>A (p.Glu642Lys) c.1889G>A | |
17 | g.47300488G>C | CA400032861 | ITGB3 | c.1924G>C (p.Glu642Gln) c.1889G>C | |
17 | g.47300488G= | CA2262611982 | ITGB3 | c.1924G= (p.Glu642=) c.1889G= | |
17 | g.47300488G>T | CA123249 | ITGB3 | c.1924G>T (p.Glu642Ter) c.1889G>T | ClinVar dbSNP gnomAD v4 |
17 | g.47300489A= | CA2262611983 | ITGB3 | c.1925A= (p.Glu642=) c.1890A= | |
17 | g.47300489A>C | CA400032862 | ITGB3 | c.1925A>C (p.Glu642Ala) c.1890A>C | gnomAD v4 |
17 | g.47300489A>G | CA400032863 | ITGB3 | c.1925A>G (p.Glu642Gly) c.1890A>G | |
17 | g.47300489A>T | CA400032864 | ITGB3 | c.1925A>T (p.Glu642Val) c.1890A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47300490G>A | CA291227816 | ITGB3 | c.1926G>A (p.Glu642=) c.1891G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47300490G>C | CA400032865 | ITGB3 | c.1926G>C (p.Glu642Asp) c.1891G>C | |
17 | g.47300490G= | CA2262611984 | ITGB3 | c.1926G= (p.Glu642=) c.1891G= | |
17 | g.47300490G>T | CA400032866 | ITGB3 | c.1926G>T (p.Glu642Asp) c.1891G>T | |
17 | g.47300491T>A | CA400032867 | ITGB3 | c.1927T>A (p.Cys643Ser) c.1892T>A | |
17 | g.47300491T>C | CA400032868 | ITGB3 | c.1927T>C (p.Cys643Arg) c.1892T>C | gnomAD v4 |
17 | g.47300491T>G | CA400032869 | ITGB3 | c.1927T>G (p.Cys643Gly) c.1892T>G | |
17 | g.47300492G>A | CA400032872 | ITGB3 | c.1928G>A (p.Cys643Tyr) c.1893G>A | gnomAD v4 |
17 | g.47300492G>C | CA400032870 | ITGB3 | c.1928G>C (p.Cys643Ser) c.1893G>C | |
17 | g.47300492G>T | CA400032871 | ITGB3 | c.1928G>T (p.Cys643Phe) c.1893G>T | |
17 | g.47300493T>A | CA400032873 | ITGB3 | c.1929T>A (p.Cys643Ter) c.1894T>A | |
17 | g.47300493T>C | CA500437059 | ITGB3 | c.1929T>C (p.Cys643=) c.1894T>C | |
17 | g.47300493T>G | CA400032874 | ITGB3 | c.1929T>G (p.Cys643Trp) c.1894T>G | |
17 | g.47300493_47300494delinsTA | CA2262611985 | ITGB3 | c.1929_1930delinsTA (p.Cys643=) c.1894_1895delinsTA | |
17 | g.47300494A= | CA2262611986 | ITGB3 | c.1930A= (p.Lys644=) c.1895A= | |
17 | g.47300494A>C | CA400032875 | ITGB3 | c.1930A>C (p.Lys644Gln) c.1895A>C | |
17 | g.47300494A>G | CA400032876 | ITGB3 | c.1930A>G (p.Lys644Glu) c.1895A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47300494A>T | CA400032877 | ITGB3 | c.1930A>T (p.Lys644Ter) c.1895A>T | |
17 | g.47300495del | CA772545500 | ITGB3 | c.1931del (p.Lys644ArgfsTer25) c.1896del | dbSNP |
17 | g.47300495A= | CA2262611987 | ITGB3 | c.1931A= (p.Lys644=) c.1896A= | |
17 | g.47300495A>C | CA8623399 | ITGB3 | c.1931A>C (p.Lys644Thr) c.1896A>C | dbSNP ExAC gnomAD v2 |
17 | g.47300495A>G | CA400032878 | ITGB3 | c.1931A>G (p.Lys644Arg) c.1896A>G | gnomAD v4 |
17 | g.47300495A>T | CA400032879 | ITGB3 | c.1931A>T (p.Lys644Met) c.1896A>T | |
17 | g.47300496G>A | CA500437061 | ITGB3 | c.1932G>A (p.Lys644=) c.1897G>A | gnomAD v4 |
17 | g.47300496G>C | CA400032880 | ITGB3 | c.1932G>C (p.Lys644Asn) c.1897G>C | |
17 | g.47300496G= | CA2262611988 | ITGB3 | c.1932G= (p.Lys644=) c.1897G= | |
17 | g.47300496G>T | CA400032881 | ITGB3 | c.1932G>T (p.Lys644Asn) c.1897G>T | |
17 | g.47300496_47300497insTA | CA8623400 | ITGB3 | c.1932_1933insTA (p.Lys645Ter) c.1897_1898insTA | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47300497A= | CA2262611989 | ITGB3 | c.1933A= (p.Lys645=) c.1898A= | |
17 | g.47300497A>C | CA291227818 | ITGB3 | c.1933A>C (p.Lys645Gln) c.1898A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47300497A>G | CA400032883 | ITGB3 | c.1933A>G (p.Lys645Glu) c.1898A>G | |
17 | g.47300497A>T | CA400032882 | ITGB3 | c.1933A>T (p.Lys645Ter) c.1898A>T | |
17 | g.47300498A>C | CA400032884 | ITGB3 | c.1934A>C (p.Lys645Thr) c.1899A>C | |
17 | g.47300498A>G | CA400032885 | ITGB3 | c.1934A>G (p.Lys645Arg) c.1899A>G | |
17 | g.47300498A>T | CA400032886 | ITGB3 | c.1934A>T (p.Lys645Met) c.1899A>T | |
17 | g.47300499G>A | CA500437079 | ITGB3 | c.1935G>A (p.Lys645=) c.1900G>A | |
17 | g.47300499G>C | CA400032887 | ITGB3 | c.1935G>C (p.Lys645Asn) c.1900G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.47300499G= | CA2262611990 | ITGB3 | c.1935G= (p.Lys645=) c.1900G= | |
17 | g.47300499G>T | CA400032888 | ITGB3 | c.1935G>T (p.Lys645Asn) c.1900G>T | |
17 | g.47300500T>A | CA400032891 | ITGB3 | c.1936T>A (p.Phe646Ile) c.1901T>A | |
17 | g.47300500T>C | CA400032889 | ITGB3 | c.1936T>C (p.Phe646Leu) c.1901T>C |