OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| 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 | |
| 17 | g.47300500T>G | CA400032890 | ITGB3 | c.1936T>G (p.Phe646Val) c.1901T>G | |
| 17 | g.47300501T>A | CA400032892 | ITGB3 | c.1937T>A (p.Phe646Tyr) c.1902T>A | |
| 17 | g.47300501T>C | CA400032893 | ITGB3 | c.1937T>C (p.Phe646Ser) c.1902T>C | |
| 17 | g.47300501T>G | CA400032894 | ITGB3 | c.1937T>G (p.Phe646Cys) c.1902T>G | |
| 17 | g.47300502T>A | CA400032895 | ITGB3 | c.1938T>A (p.Phe646Leu) c.1903T>A | |
| 17 | g.47300502T>C | CA500437092 | ITGB3 | c.1938T>C (p.Phe646=) c.1903T>C | |
| 17 | g.47300502T>G | CA400032896 | ITGB3 | c.1938T>G (p.Phe646Leu) c.1903T>G | |
| 17 | g.47300503G>A | CA400032897 | ITGB3 | c.1939G>A (p.Asp647Asn) c.1904G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47300503G>C | CA400032899 | ITGB3 | c.1939G>C (p.Asp647His) c.1904G>C | |
| 17 | g.47300503G= | CA2262611991 | ITGB3 | c.1939G= (p.Asp647=) c.1904G= | |
| 17 | g.47300503G>T | CA400032898 | ITGB3 | c.1939G>T (p.Asp647Tyr) c.1904G>T | gnomAD v4 |
| 17 | g.47300504A= | CA2262611992 | ITGB3 | c.1940A= (p.Asp647=) c.1905A= | |
| 17 | g.47300504A>C | CA400032900 | ITGB3 | c.1940A>C (p.Asp647Ala) c.1905A>C | |
| 17 | g.47300504A>G | CA400032901 | ITGB3 | c.1940A>G (p.Asp647Gly) c.1905A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47300504A>T | CA400032902 | ITGB3 | c.1940A>T (p.Asp647Val) c.1905A>T | |
| 17 | g.47300505C>A | CA291227820 | ITGB3 | c.1941C>A (p.Asp647Glu) c.1906C>A | dbSNP |
| 17 | g.47300505C= | CA2262611993 | ITGB3 | c.1941C= (p.Asp647=) c.1906C= | |
| 17 | g.47300505C>G | CA400032903 | ITGB3 | c.1941C>G (p.Asp647Glu) c.1906C>G | |
| 17 | g.47300505C>T | CA500437109 | ITGB3 | c.1941C>T (p.Asp647=) c.1906C>T | |
| 17 | g.47300506C>A | CA500437111 | ITGB3 | c.1942C>A (p.Arg648=) c.1907C>A | |
| 17 | g.47300506C= | CA2262611994 | ITGB3 | c.1942C= (p.Arg648=) c.1907C= | |
| 17 | g.47300506C>G | CA400032904 | ITGB3 | c.1942C>G (p.Arg648Gly) c.1907C>G | |
| 17 | g.47300506C>T | CA8623401 | ITGB3 | c.1942C>T (p.Arg648Trp) c.1907C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300507G>A | CA400032905 | ITGB3 | c.1943G>A (p.Arg648Gln) c.1908G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47300507G>C | CA400032906 | ITGB3 | c.1943G>C (p.Arg648Pro) c.1908G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47300507G= | CA2262611995 | ITGB3 | c.1943G= (p.Arg648=) c.1908G= | |
| 17 | g.47300507G>T | CA400032907 | ITGB3 | c.1943G>T (p.Arg648Leu) c.1908G>T | |
| 17 | g.47300510del | CA500437119 | ITGB3 | c.1946del (p.Gly649GlufsTer20) c.1911del | COSMIC COSMIC COSMIC |
| 17 | g.47300508G>A | CA500437129 | ITGB3 | c.1944G>A (p.Arg648=) c.1909G>A | |
| 17 | g.47300508G>C | CA500437126 | ITGB3 | c.1944G>C (p.Arg648=) c.1909G>C | gnomAD v4 COSMIC COSMIC |
| 17 | g.47300508G>T | CA500437123 | ITGB3 | c.1944G>T (p.Arg648=) c.1909G>T | |
| 17 | g.47300509G>A | CA400032910 | ITGB3 | c.1945G>A (p.Gly649Arg) c.1910G>A | |
| 17 | g.47300509G>C | CA400032909 | ITGB3 | c.1945G>C (p.Gly649Arg) c.1910G>C | |
| 17 | g.47300509G>T | CA400032908 | ITGB3 | c.1945G>T (p.Gly649Ter) c.1910G>T | |
| 17 | g.47300510G>A | CA400032911 | ITGB3 | c.1946G>A (p.Gly649Glu) c.1911G>A | |
| 17 | g.47300510G>C | CA400032913 | ITGB3 | c.1946G>C (p.Gly649Ala) c.1911G>C | |
| 17 | g.47300510G>T | CA400032912 | ITGB3 | c.1946G>T (p.Gly649Val) c.1911G>T | |
| 17 | g.47300511A>C | CA500437143 | ITGB3 | c.1947A>C (p.Gly649=) c.1912A>C | |
| 17 | g.47300511A>G | CA500437145 | ITGB3 | c.1947A>G (p.Gly649=) c.1912A>G | gnomAD v4 |
| 17 | g.47300511A>T | CA500437148 | ITGB3 | c.1947A>T (p.Gly649=) c.1912A>T | |
| 17 | g.47300512G>A | CA8623402 | ITGB3 | c.1948G>A (p.Ala650Thr) c.1913G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47300512G>C | CA400032914 | ITGB3 | c.1948G>C (p.Ala650Pro) c.1913G>C | gnomAD v4 |
| 17 | g.47300512G= | CA2262611996 | ITGB3 | c.1948G= (p.Ala650=) c.1913G= | |
| 17 | g.47300512G>T | CA400032915 | ITGB3 | c.1948G>T (p.Ala650Ser) c.1913G>T | |
| 17 | g.47300513C>A | CA291227822 | ITGB3 | c.1949C>A (p.Ala650Asp) c.1914C>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47300513C= | CA2262611997 | ITGB3 | c.1949C= (p.Ala650=) c.1914C= | |
| 17 | g.47300513C>G | CA400032916 | ITGB3 | c.1949C>G (p.Ala650Gly) c.1914C>G | |
| 17 | g.47300513C>T | CA400032917 | ITGB3 | c.1949C>T (p.Ala650Val) c.1914C>T | gnomAD v4 |
| 17 | g.47300514C>A | CA500437163 | ITGB3 | c.1950C>A (p.Ala650=) c.1915C>A | gnomAD v4 |
| 17 | g.47300514C>G | CA500437164 | ITGB3 | c.1950C>G (p.Ala650=) c.1915C>G | |
| 17 | g.47300514C>T | CA500437167 | ITGB3 | c.1950C>T (p.Ala650=) c.1915C>T | gnomAD v4 |
| 17 | g.47300515C>A | CA400032918 | ITGB3 | c.1951C>A (p.Leu651Ile) c.1916C>A | |
| 17 | g.47300515C>G | CA400032919 | ITGB3 | c.1951C>G (p.Leu651Val) c.1916C>G | |
| 17 | g.47300515C>T | CA500437173 | ITGB3 | c.1951C>T (p.Leu651=) c.1916C>T | |
| 17 | g.47300516T>A | CA400032920 | ITGB3 | c.1952T>A (p.Leu651Gln) c.1917T>A | |
| 17 | g.47300516T>C | CA400032921 | ITGB3 | c.1952T>C (p.Leu651Pro) c.1917T>C | gnomAD v4 |
| 17 | g.47300516T>G | CA400032922 | ITGB3 | c.1952T>G (p.Leu651Arg) c.1917T>G | |
| 17 | g.47300517A>C | CA500437182 | ITGB3 | c.1953A>C (p.Leu651=) c.1918A>C | ClinVar |
| 17 | g.47300517A>G | CA500437186 | ITGB3 | c.1953A>G (p.Leu651=) c.1918A>G | gnomAD v4 |
| 17 | g.47300517A>T | CA500437184 | ITGB3 | c.1953A>T (p.Leu651=) c.1918A>T | |
| 17 | g.47300518C>A | CA400032925 | ITGB3 | c.1954C>A (p.His652Asn) c.1919C>A | |
| 17 | g.47300518C>G | CA400032924 | ITGB3 | c.1954C>G (p.His652Asp) c.1919C>G | |
| 17 | g.47300518C>T | CA400032923 | ITGB3 | c.1954C>T (p.His652Tyr) c.1919C>T | |
| 17 | g.47300519A= | CA2262611998 | ITGB3 | c.1955A= (p.His652=) c.1920A= | |
| 17 | g.47300519A>C | CA400032926 | ITGB3 | c.1955A>C (p.His652Pro) c.1920A>C | |
| 17 | g.47300519A>G | CA8623403 | ITGB3 | c.1955A>G (p.His652Arg) c.1920A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300519A>T | CA400032927 | ITGB3 | c.1955A>T (p.His652Leu) c.1920A>T | ClinVar |
| 17 | g.47300520T>A | CA400032928 | ITGB3 | c.1956T>A (p.His652Gln) c.1921T>A | |
| 17 | g.47300520T>C | CA8623404 | ITGB3 | c.1956T>C (p.His652=) c.1921T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300520T>G | CA400032929 | ITGB3 | c.1956T>G (p.His652Gln) c.1921T>G | |
| 17 | g.47300520T= | CA2262611999 | ITGB3 | c.1956T= (p.His652=) c.1921T= | |
| 17 | g.47300521G>A | CA400032930 | ITGB3 | c.1957G>A (p.Asp653Asn) c.1922G>A | COSMIC COSMIC COSMIC |
| 17 | g.47300521G>C | CA400032931 | ITGB3 | c.1957G>C (p.Asp653His) c.1922G>C | |
| 17 | g.47300521G>T | CA400032932 | ITGB3 | c.1957G>T (p.Asp653Tyr) c.1922G>T | |
| 17 | g.47300522A>C | CA400032933 | ITGB3 | c.1958A>C (p.Asp653Ala) c.1923A>C | |
| 17 | g.47300522A>G | CA400032934 | ITGB3 | c.1958A>G (p.Asp653Gly) c.1923A>G | |
| 17 | g.47300522A>T | CA400032935 | ITGB3 | c.1958A>T (p.Asp653Val) c.1923A>T | |
| 17 | g.47300523C>A | CA400032937 | ITGB3 | c.1959C>A (p.Asp653Glu) c.1924C>A | ClinVar |
| 17 | g.47300523C= | CA2262612000 | ITGB3 | c.1959C= (p.Asp653=) c.1924C= | |
| 17 | g.47300523C>G | CA400032936 | ITGB3 | c.1959C>G (p.Asp653Glu) c.1924C>G | |
| 17 | g.47300523C>T | CA8623405 | ITGB3 | c.1959C>T (p.Asp653=) c.1924C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.47300524G>A | CA8623406 | ITGB3 | c.1960G>A (p.Glu654Lys) c.1925G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.47300524G>C | CA400032938 | ITGB3 | c.1960G>C (p.Glu654Gln) c.1925G>C | |
| 17 | g.47300524G= | CA2262612001 | ITGB3 | c.1960G= (p.Glu654=) c.1925G= | |
| 17 | g.47300524G>T | CA400032939 | ITGB3 | c.1960G>T (p.Glu654Ter) c.1925G>T | |
| 17 | g.47300525A>C | CA400032940 | ITGB3 | c.1961A>C (p.Glu654Ala) c.1926A>C | |
| 17 | g.47300525A>G | CA400032941 | ITGB3 | c.1961A>G (p.Glu654Gly) c.1926A>G | |
| 17 | g.47300525A>T | CA400032942 | ITGB3 | c.1961A>T (p.Glu654Val) c.1926A>T | |
| 17 | g.47300526A>C | CA400032943 | ITGB3 | c.1962A>C (p.Glu654Asp) c.1927A>C | |
| 17 | g.47300526A>G | CA500437233 | ITGB3 | c.1962A>G (p.Glu654=) c.1927A>G | |
| 17 | g.47300526A>T | CA400032944 | ITGB3 | c.1962A>T (p.Glu654Asp) c.1927A>T | |
| 17 | g.47300527A>C | CA400032945 | ITGB3 | c.1963A>C (p.Asn655His) c.1928A>C | |
| 17 | g.47300527A>G | CA400032946 | ITGB3 | c.1963A>G (p.Asn655Asp) c.1928A>G | |
| 17 | g.47300527A>T | CA400032947 | ITGB3 | c.1963A>T (p.Asn655Tyr) c.1928A>T | |
| 17 | g.47300528A>C | CA400032948 | ITGB3 | c.1964A>C (p.Asn655Thr) c.1929A>C | |
| 17 | g.47300528A>G | CA400032949 | ITGB3 | c.1964A>G (p.Asn655Ser) c.1929A>G | |
| 17 | g.47300528A>T | CA400032950 | ITGB3 | c.1964A>T (p.Asn655Ile) c.1929A>T | |
| 17 | g.47300529T>A | CA400032951 | ITGB3 | c.1965T>A (p.Asn655Lys) c.1930T>A | |
| 17 | g.47300529T>C | CA500437248 | ITGB3 | c.1965T>C (p.Asn655=) c.1930T>C | |
| 17 | g.47300529T>G | CA400032952 | ITGB3 | c.1965T>G (p.Asn655Lys) c.1930T>G | |
| 17 | g.47300530A= | CA2262612002 | ITGB3 | c.1966A= (p.Thr656=) c.1931A= | |
| 17 | g.47300530A>C | CA400032953 | ITGB3 | c.1966A>C (p.Thr656Pro) c.1931A>C | dbSNP |
| 17 | g.47300530A>G | CA400032954 | ITGB3 | c.1966A>G (p.Thr656Ala) c.1931A>G | |
| 17 | g.47300530A>T | CA400032955 | ITGB3 | c.1966A>T (p.Thr656Ser) c.1931A>T | |
| 17 | g.47300531C>A | CA400032956 | ITGB3 | c.1967C>A (p.Thr656Asn) c.1932C>A | |
| 17 | g.47300531C>G | CA400032957 | ITGB3 | c.1967C>G (p.Thr656Ser) c.1932C>G | |
| 17 | g.47300531C>T | CA400032958 | ITGB3 | c.1967C>T (p.Thr656Ile) c.1932C>T | |
| 17 | g.47300532C>A | CA500437267 | ITGB3 | c.1968C>A (p.Thr656=) c.1933C>A | |
| 17 | g.47300532C>G | CA500437262 | ITGB3 | c.1968C>G (p.Thr656=) c.1933C>G | |
| 17 | g.47300532C>T | CA500437265 | ITGB3 | c.1968C>T (p.Thr656=) c.1933C>T | ClinVar |
| 17 | g.47300533T>A | CA400032959 | ITGB3 | c.1969T>A (p.Cys657Ser) c.1934T>A | |
| 17 | g.47300533T>C | CA400032960 | ITGB3 | c.1969T>C (p.Cys657Arg) c.1934T>C | gnomAD v4 |
| 17 | g.47300533T>G | CA400032961 | ITGB3 | c.1969T>G (p.Cys657Gly) c.1934T>G | |
| 17 | g.47300534G>A | CA400032962 | ITGB3 | c.1970G>A (p.Cys657Tyr) c.1935G>A | dbSNP gnomAD v4 |
| 17 | g.47300534G>C | CA400032963 | ITGB3 | c.1970G>C (p.Cys657Ser) c.1935G>C | dbSNP |
| 17 | g.47300534G= | CA2262612003 | ITGB3 | c.1970G= (p.Cys657=) c.1935G= | |
| 17 | g.47300534G>T | CA400032964 | ITGB3 | c.1970G>T (p.Cys657Phe) c.1935G>T | |
| 17 | g.47300535C>A | CA400032965 | ITGB3 | c.1971C>A (p.Cys657Ter) c.1936C>A | |
| 17 | g.47300535C>G | CA400032966 | ITGB3 | c.1971C>G (p.Cys657Trp) c.1936C>G | |
| 17 | g.47300535C>T | CA500437285 | ITGB3 | c.1971C>T (p.Cys657=) c.1936C>T | |
| 17 | g.47300536A>C | CA400032967 | ITGB3 | c.1972A>C (p.Asn658His) c.1937A>C | |
| 17 | g.47300536A>G | CA400032969 | ITGB3 | c.1972A>G (p.Asn658Asp) c.1937A>G | |
| 17 | g.47300536A>T | CA400032968 | ITGB3 | c.1972A>T (p.Asn658Tyr) c.1937A>T | |
| 17 | g.47300537A>C | CA400032970 | ITGB3 | c.1973A>C (p.Asn658Thr) c.1938A>C | |
| 17 | g.47300537A>G | CA400032971 | ITGB3 | c.1973A>G (p.Asn658Ser) c.1938A>G | gnomAD v4 |
| 17 | g.47300537A>T | CA400032972 | ITGB3 | c.1973A>T (p.Asn658Ile) c.1938A>T | |
| 17 | g.47300538C>A | CA400032973 | ITGB3 | c.1974C>A (p.Asn658Lys) c.1939C>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47300538C= | CA2262612004 | ITGB3 | c.1974C= (p.Asn658=) c.1939C= | |
| 17 | g.47300538C>G | CA400032974 | ITGB3 | c.1974C>G (p.Asn658Lys) c.1939C>G | |
| 17 | g.47300538C>T | CA500437302 | ITGB3 | c.1974C>T (p.Asn658=) c.1939C>T | dbSNP gnomAD v4 |
| 17 | g.47300539C>A | CA400032975 | ITGB3 | c.1975C>A (p.Arg659Ser) c.1940C>A | |
| 17 | g.47300539C= | CA2262612005 | ITGB3 | c.1975C= (p.Arg659=) c.1940C= | |
| 17 | g.47300539C>G | CA291227824 | ITGB3 | c.1975C>G (p.Arg659Gly) c.1940C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47300539C>T | CA291227826 | ITGB3 | c.1975C>T (p.Arg659Cys) c.1940C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.47300540G>A | CA8623407 | ITGB3 | c.1976G>A (p.Arg659His) c.1941G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300540G>C | CA8623408 | ITGB3 | c.1976G>C (p.Arg659Pro) c.1941G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47300540G= | CA2262612006 | ITGB3 | c.1976G= (p.Arg659=) c.1941G= | |
| 17 | g.47300540G>T | CA400032976 | ITGB3 | c.1976G>T (p.Arg659Leu) c.1941G>T | gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.47300541T>A | CA500437316 | ITGB3 | c.1977T>A (p.Arg659=) c.1942T>A | |
| 17 | g.47300541T>C | CA500437320 | ITGB3 | c.1977T>C (p.Arg659=) c.1942T>C | COSMIC COSMIC COSMIC |
| 17 | g.47300541T>G | CA500437318 | ITGB3 | c.1977T>G (p.Arg659=) c.1942T>G | |
| 17 | g.47300542T>A | CA400032977 | ITGB3 | c.1978T>A (p.Tyr660Asn) c.1943T>A | |
| 17 | g.47300542T>C | CA400032978 | ITGB3 | c.1978T>C (p.Tyr660His) c.1943T>C | dbSNP gnomAD v4 |
| 17 | g.47300542T>G | CA400032979 | ITGB3 | c.1978T>G (p.Tyr660Asp) c.1943T>G | |
| 17 | g.47300542T= | CA2262612007 | ITGB3 | c.1978T= (p.Tyr660=) c.1943T= | |
| 17 | g.47300543A>C | CA400032980 | ITGB3 | c.1979A>C (p.Tyr660Ser) c.1944A>C | |
| 17 | g.47300543A>G | CA400032982 | ITGB3 | c.1979A>G (p.Tyr660Cys) c.1944A>G | |
| 17 | g.47300543A>T | CA400032981 | ITGB3 | c.1979A>T (p.Tyr660Phe) c.1944A>T | |
| 17 | g.47300544C>A | CA400032983 | ITGB3 | c.1980C>A (p.Tyr660Ter) c.1945C>A | ClinVar dbSNP |
| 17 | g.47300544C= | CA2262612008 | ITGB3 | c.1980C= (p.Tyr660=) c.1945C= | |
| 17 | g.47300544C>G | CA400032984 | ITGB3 | c.1980C>G (p.Tyr660Ter) c.1945C>G | |
| 17 | g.47300544C>T | CA8623409 | ITGB3 | c.1980C>T (p.Tyr660=) c.1945C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47300545T>A | CA400032985 | ITGB3 | c.1981T>A (p.Cys661Ser) c.1946T>A | |
| 17 | g.47300545T>C | CA400032986 | ITGB3 | c.1981T>C (p.Cys661Arg) c.1946T>C | |
| 17 | g.47300545T>G | CA400032987 | ITGB3 | c.1981T>G (p.Cys661Gly) c.1946T>G | |
| 17 | g.47300546G>A | CA400032988 | ITGB3 | c.1982G>A (p.Cys661Tyr) c.1947G>A | |
| 17 | g.47300546G>C | CA400032989 | ITGB3 | c.1982G>C (p.Cys661Ser) c.1947G>C | |
| 17 | g.47300546G>T | CA400032990 | ITGB3 | c.1982G>T (p.Cys661Phe) c.1947G>T | |
| 17 | g.47300547C>A | CA400032991 | ITGB3 | c.1983C>A (p.Cys661Ter) c.1948C>A | |
| 17 | g.47300547C>G | CA400032992 | ITGB3 | c.1983C>G (p.Cys661Trp) c.1948C>G | |
| 17 | g.47300547C>T | CA500437354 | ITGB3 | c.1983C>T (p.Cys661=) c.1948C>T | |
| 17 | g.47300548del | CA2576302526 | ITGB3 | c.1984del (p.Arg662ValfsTer7) c.1949del | |
| 17 | g.47300548C>A | CA8623410 | ITGB3 | c.1984C>A (p.Arg662Ser) c.1949C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300548C= | CA2262612009 | ITGB3 | c.1984C= (p.Arg662=) c.1949C= | |
| 17 | g.47300548C>G | CA400032993 | ITGB3 | c.1984C>G (p.Arg662Gly) c.1949C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300548C>T | CA8623411 | ITGB3 | c.1984C>T (p.Arg662Cys) c.1949C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300549G>A | CA8623412 | ITGB3 | c.1985G>A (p.Arg662His) c.1950G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300549G>C | CA400032994 | ITGB3 | c.1985G>C (p.Arg662Pro) c.1950G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300549G= | CA2262612010 | ITGB3 | c.1985G= (p.Arg662=) c.1950G= | |
| 17 | g.47300549G>T | CA400032995 | ITGB3 | c.1985G>T (p.Arg662Leu) c.1950G>T | |
| 17 | g.47300550T>A | CA500437368 | ITGB3 | c.1986T>A (p.Arg662=) c.1951T>A | |
| 17 | g.47300550T>C | CA500437370 | ITGB3 | c.1986T>C (p.Arg662=) c.1951T>C | |
| 17 | g.47300550T>G | CA500437372 | ITGB3 | c.1986T>G (p.Arg662=) c.1951T>G | |
| 17 | g.47300550dup | CA915940608 | ITGB3 | c.1986dup (p.Asp663Ter) c.1951dup | ClinVar dbSNP |
| 17 | g.47300551G>A | CA400032996 | ITGB3 | c.1987G>A (p.Asp663Asn) c.1952G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47300551G>C | CA400032997 | ITGB3 | c.1987G>C (p.Asp663His) c.1952G>C | |
| 17 | g.47300551G= | CA2262612011 | ITGB3 | c.1987G= (p.Asp663=) c.1952G= | |
| 17 | g.47300551G>T | CA400032998 | ITGB3 | c.1987G>T (p.Asp663Tyr) c.1952G>T | |
| 17 | g.47300552A>C | CA400032999 | ITGB3 | c.1988A>C (p.Asp663Ala) c.1953A>C | |
| 17 | g.47300552A>G | CA400033000 | ITGB3 | c.1988A>G (p.Asp663Gly) c.1953A>G | |
| 17 | g.47300552A>T | CA400033001 | ITGB3 | c.1988A>T (p.Asp663Val) c.1953A>T | gnomAD v4 |
| 17 | g.47300553C>A | CA400033002 | ITGB3 | c.1989C>A (p.Asp663Glu) c.1954C>A | |
| 17 | g.47300553C= | CA2262612012 | ITGB3 | c.1989C= (p.Asp663=) c.1954C= | |
| 17 | g.47300553C>G | CA8623413 | ITGB3 | c.1989C>G (p.Asp663Glu) c.1954C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47300553C>T | CA500437384 | ITGB3 | c.1989C>T (p.Asp663=) c.1954C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300554G>A | CA8623414 | ITGB3 | c.1990G>A (p.Glu664Lys) c.1955G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 17 | g.47300554G>C | CA400033004 | ITGB3 | c.1990G>C (p.Glu664Gln) c.1955G>C | |
| 17 | g.47300554G= | CA2262612013 | ITGB3 | c.1990G= (p.Glu664=) c.1955G= | |
| 17 | g.47300554G>T | CA400033003 | ITGB3 | c.1990G>T (p.Glu664Ter) c.1955G>T | ClinVar |
| 17 | g.47300555A= | CA2262612014 | ITGB3 | c.1991A= (p.Glu664=) c.1956A= | |
| 17 | g.47300555A>C | CA8623415 | ITGB3 | c.1991A>C (p.Glu664Ala) c.1956A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300555A>G | CA400033005 | ITGB3 | c.1991A>G (p.Glu664Gly) c.1956A>G | gnomAD v4 |
| 17 | g.47300555A>T | CA400033006 | ITGB3 | c.1991A>T (p.Glu664Val) c.1956A>T | |
| 17 | g.47300556G>A | CA500437404 | ITGB3 | c.1992G>A (p.Glu664=) c.1957G>A | |
| 17 | g.47300556G>C | CA400033007 | ITGB3 | c.1992G>C (p.Glu664Asp) c.1957G>C | |
| 17 | g.47300556G>T | CA400033008 | ITGB3 | c.1992G>T (p.Glu664Asp) c.1957G>T | |
| 17 | g.47300557A>C | CA400033009 | ITGB3 | c.1993A>C (p.Ile665Leu) c.1958A>C | |
| 17 | g.47300557A>G | CA400033010 | ITGB3 | c.1993A>G (p.Ile665Val) c.1958A>G | |
| 17 | g.47300557A>T | CA400033011 | ITGB3 | c.1993A>T (p.Ile665Phe) c.1958A>T | |
| 17 | g.47300558T>A | CA400033012 | ITGB3 | c.1994T>A (p.Ile665Asn) c.1959T>A | |
| 17 | g.47300558T>C | CA16609653 | ITGB3 | c.1994T>C (p.Ile665Thr) c.1959T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47300558T>G | CA400033013 | ITGB3 | c.1994T>G (p.Ile665Ser) c.1959T>G | |
| 17 | g.47300558T= | CA2262612015 | ITGB3 | c.1994T= (p.Ile665=) c.1959T= | |
| 17 | g.47300559T>A | CA500437417 | ITGB3 | c.1995T>A (p.Ile665=) c.1960T>A | |
| 17 | g.47300559T>C | CA500437419 | ITGB3 | c.1995T>C (p.Ile665=) c.1960T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47300559T>G | CA400033014 | ITGB3 | c.1995T>G (p.Ile665Met) c.1960T>G | |
| 17 | g.47300559T= | CA2262612016 | ITGB3 | c.1995T= (p.Ile665=) c.1960T= | |
| 17 | g.47300560G>A | CA291227831 | ITGB3 | c.1996G>A (p.Glu666Lys) c.1961G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300560G>C | CA400033016 | ITGB3 | c.1996G>C (p.Glu666Gln) c.1961G>C | |
| 17 | g.47300560G= | CA2262612017 | ITGB3 | c.1996G= (p.Glu666=) c.1961G= | |
| 17 | g.47300560G>T | CA400033015 | ITGB3 | c.1996G>T (p.Glu666Ter) c.1961G>T | |
| 17 | g.47300561A>C | CA400033019 | ITGB3 | c.1997A>C (p.Glu666Ala) c.1962A>C | |
| 17 | g.47300561A>G | CA400033017 | ITGB3 | c.1997A>G (p.Glu666Gly) c.1962A>G | |
| 17 | g.47300561A>T | CA400033018 | ITGB3 | c.1997A>T (p.Glu666Val) c.1962A>T | |
| 17 | g.47300564_47300567del | CA2739268189 | ITGB3 | c.2000_2003del (p.Ser667Ter) c.1965_1968del | ClinVar |
| 17 | g.47300562G>A | CA500437420 | ITGB3 | c.1998G>A (p.Glu666=) c.1963G>A | |
| 17 | g.47300562G>C | CA400033020 | ITGB3 | c.1998G>C (p.Glu666Asp) c.1963G>C | |
| 17 | g.47300562G>T | CA400033021 | ITGB3 | c.1998G>T (p.Glu666Asp) c.1963G>T | |
| 17 | g.47300563T>A | CA400033022 | ITGB3 | c.1999T>A (p.Ser667Thr) c.1964T>A | |
| 17 | g.47300563T>C | CA400033023 | ITGB3 | c.1999T>C (p.Ser667Pro) c.1964T>C | |
| 17 | g.47300563T>G | CA400033024 | ITGB3 | c.1999T>G (p.Ser667Ala) c.1964T>G | |
| 17 | g.47300564C>A | CA400033025 | ITGB3 | c.2000C>A (p.Ser667Ter) c.1965C>A | gnomAD v4 |
| 17 | g.47300564C= | CA2262612018 | ITGB3 | c.2000C= (p.Ser667=) c.1965C= | |
| 17 | g.47300564C>G | CA400033026 | ITGB3 | c.2000C>G (p.Ser667Ter) c.1965C>G | |
| 17 | g.47300564C>T | CA400033027 | ITGB3 | c.2000C>T (p.Ser667Leu) c.1965C>T | gnomAD v4 |
| 17 | g.47300565A>C | CA500437421 | ITGB3 | c.2001A>C (p.Ser667=) c.1966A>C | gnomAD v4 |
| 17 | g.47300565A>G | CA500437423 | ITGB3 | c.2001A>G (p.Ser667=) c.1966A>G | gnomAD v4 |
| 17 | g.47300565A>T | CA500437422 | ITGB3 | c.2001A>T (p.Ser667=) c.1966A>T | |
| 17 | g.47300565dup | CA626382467 | ITGB3 | c.2001dup (p.Val668SerfsTer5) c.1966dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47300566G>A | CA400033028 | ITGB3 | c.2002G>A (p.Val668Met) c.1967G>A | |
| 17 | g.47300566G>C | CA8623416 | ITGB3 | c.2002G>C (p.Val668Leu) c.1967G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300566G= | CA2262612019 | ITGB3 | c.2002G= (p.Val668=) c.1967G= | |
| 17 | g.47300566G>T | CA400033029 | ITGB3 | c.2002G>T (p.Val668Leu) c.1967G>T | |
| 17 | g.47300567T>A | CA400033032 | ITGB3 | c.2003T>A (p.Val668Glu) c.1968T>A | |
| 17 | g.47300567T>C | CA400033030 | ITGB3 | c.2003T>C (p.Val668Ala) c.1968T>C | |
| 17 | g.47300567T>G | CA400033031 | ITGB3 | c.2003T>G (p.Val668Gly) c.1968T>G | |
| 17 | g.47300568G>A | CA500437426 | ITGB3 | c.2004G>A (p.Val668=) c.1969G>A | |
| 17 | g.47300568G>C | CA500437427 | ITGB3 | c.2004G>C (p.Val668=) c.1969G>C | |
| 17 | g.47300568G>T | CA500437425 | ITGB3 | c.2004G>T (p.Val668=) c.1969G>T | |
| 17 | g.47300569A>C | CA400033033 | ITGB3 | c.2005A>C (p.Lys669Gln) c.1970A>C | |
| 17 | g.47300569A>G | CA400033034 | ITGB3 | c.2005A>G (p.Lys669Glu) c.1970A>G | |
| 17 | g.47300569A>T | CA400033035 | ITGB3 | c.2005A>T (p.Lys669Ter) c.1970A>T | |
| 17 | g.47300570A>C | CA400033036 | ITGB3 | c.2006A>C (p.Lys669Thr) c.1971A>C | |
| 17 | g.47300570A>G | CA400033037 | ITGB3 | c.2006A>G (p.Lys669Arg) c.1971A>G | |
| 17 | g.47300570A>T | CA400033038 | ITGB3 | c.2006A>T (p.Lys669Ile) c.1971A>T | |
| 17 | g.47300571A= | CA2262612020 | ITGB3 | c.2007A= (p.Lys669=) c.1972A= | |
| 17 | g.47300571A>C | CA400033039 | ITGB3 | c.2007A>C (p.Lys669Asn) c.1972A>C | |
| 17 | g.47300571A>G | CA8623417 | ITGB3 | c.2007A>G (p.Lys669=) c.1972A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300571A>T | CA400033040 | ITGB3 | c.2007A>T (p.Lys669Asn) c.1972A>T | |
| 17 | g.47300572G>A | CA400033041 | ITGB3 | c.2008G>A (p.Glu670Lys) c.1973G>A | gnomAD v4 |
| 17 | g.47300572G>C | CA400033042 | ITGB3 | c.2008G>C (p.Glu670Gln) c.1973G>C | |
| 17 | g.47300572G>T | CA400033043 | ITGB3 | c.2008G>T (p.Glu670Ter) c.1973G>T | |
| 17 | g.47300573A>C | CA400033046 | ITGB3 | c.2009A>C (p.Glu670Ala) c.1974A>C | |
| 17 | g.47300573A>G | CA400033045 | ITGB3 | c.2009A>G (p.Glu670Gly) c.1974A>G | |
| 17 | g.47300573A>T | CA400033044 | ITGB3 | c.2009A>T (p.Glu670Val) c.1974A>T | |
| 17 | g.47300574G>A | CA500437428 | ITGB3 | c.2010G>A (p.Glu670=) c.1975G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47300574G>C | CA400033047 | ITGB3 | c.2010G>C (p.Glu670Asp) c.1975G>C | |
| 17 | g.47300574G= | CA2262612021 | ITGB3 | c.2010G= (p.Glu670=) c.1975G= | |
| 17 | g.47300574G>T | CA400033048 | ITGB3 | c.2010G>T (p.Glu670Asp) c.1975G>T | |
| 17 | g.47300575C>A | CA400033049 | ITGB3 | c.2011C>A (p.Leu671Ile) c.1976C>A | gnomAD v4 |
| 17 | g.47300575C= | CA2262612022 | ITGB3 | c.2011C= (p.Leu671=) c.1976C= | |
| 17 | g.47300575C>G | CA400033050 | ITGB3 | c.2011C>G (p.Leu671Val) c.1976C>G | |
| 17 | g.47300575C>T | CA8623418 | ITGB3 | c.2011C>T (p.Leu671Phe) c.1976C>T | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 17 | g.47300576T>A | CA400033052 | ITGB3 | c.2012T>A (p.Leu671His) c.1977T>A | gnomAD v4 |
| 17 | g.47300576T>C | CA400033051 | ITGB3 | c.2012T>C (p.Leu671Pro) c.1977T>C | |
| 17 | g.47300576T>G | CA8623419 | ITGB3 | c.2012T>G (p.Leu671Arg) c.1977T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.47300576T= | CA2262612023 | ITGB3 | c.2012T= (p.Leu671=) c.1977T= | |
| 17 | g.47300577T>A | CA500437431 | ITGB3 | c.2013T>A (p.Leu671=) c.1978T>A | |
| 17 | g.47300577T>C | CA500437432 | ITGB3 | c.2013T>C (p.Leu671=) c.1978T>C | |
| 17 | g.47300577T>G | CA500437433 | ITGB3 | c.2013T>G (p.Leu671=) c.1978T>G | gnomAD v4 |
| 17 | g.47300578A= | CA2262612024 | ITGB3 | c.2014A= (p.Lys672=) c.1979A= | |
| 17 | g.47300578A>C | CA400033053 | ITGB3 | c.2014A>C (p.Lys672Gln) c.1979A>C | |
| 17 | g.47300578A>G | CA291227834 | ITGB3 | c.2014A>G (p.Lys672Glu) c.1979A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.47300578A>T | CA400033054 | ITGB3 | c.2014A>T (p.Lys672Ter) c.1979A>T | |
| 17 | g.47300579G>A | CA400033055 | ITGB3 | c.2014+1G>A (n.2014+1G>A) c.1979+1G>A | ClinVar dbSNP |
| 17 | g.47300579G>C | CA400033056 | ITGB3 | c.2014+1G>C (n.2014+1G>C) c.1979+1G>C | |
| 17 | g.47300579G= | CA2262612025 | ITGB3 | c.2014+1G= (n.2014+1G=) c.1979+1G= | |
| 17 | g.47300579G>T | CA400033057 | ITGB3 | c.2014+1G>T (n.2014+1G>T) c.1979+1G>T | |
| 17 | g.47300580T>A | CA400033058 | ITGB3 | c.2014+2T>A (n.2014+2T>A) c.1979+2T>A | |
| 17 | g.47300580T>C | CA400033060 | ITGB3 | c.2014+2T>C (n.2014+2T>C) c.1979+2T>C | |
| 17 | g.47300580T>G | CA400033059 | ITGB3 | c.2014+2T>G (n.2014+2T>G) c.1979+2T>G | |
| 17 | g.47300581A>G | CA2809686967 | ITGB3 | c.2014+3A>G (n.2014+3A>G) c.1979+3A>G | |
| 17 | g.47300582A= | CA2262612026 | ITGB3 | c.2014+4A= (n.2014+4A=) c.1979+4A= | |
| 17 | g.47300582A>C | CA772545655 | ITGB3 | c.2014+4A>C (n.2014+4A>C) c.1979+4A>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.47300582A>G | CA2638437203 | ITGB3 | c.2014+4A>G (n.2014+4A>G) c.1979+4A>G | gnomAD v4 |
| 17 | g.47300582A>T | CA2262612027 | ITGB3 | c.2014+4A>T (n.2014+4A>T) c.1979+4A>T | dbSNP |
| 17 | g.47300583G>A | CA915940701 | ITGB3 | c.2014+5G>A (n.2014+5G>A) c.1979+5G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.47300584T>A | CA2638437204 | ITGB3 | c.2014+6T>A (n.2014+6T>A) c.1979+6T>A | gnomAD v4 |
| 17 | g.47300585T>G | CA2576302527 | ITGB3 | c.2014+7T>G (n.2014+7T>G) c.1979+7T>G | |
| 17 | g.47300586C= | CA2262612028 | ITGB3 | c.2014+8C= (n.2014+8C=) c.1979+8C= | |
| 17 | g.47300586C>T | CA8623420 | ITGB3 | c.2014+8C>T (n.2014+8C>T) c.1979+8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.47300587A= | CA2262612029 | ITGB3 | c.2014+9A= (n.2014+9A=) c.1979+9A= | |
| 17 | g.47300587A>C | CA2262612030 | ITGB3 | c.2014+9A>C (n.2014+9A>C) c.1979+9A>C | ClinVar dbSNP |
| 17 | g.47300588del | CA2739268190 | ITGB3 | c.2014+10del (n.2014+10del) c.1979+10del | ClinVar |