Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.746007T>A | CA397505830 | GEMIN4 | c.2036A>T (p.Glu679Val) c.2003A>T (p.Glu668Val) c.2048A>T (p.Glu683Val) | |
17 | g.746007T>C | CA397505831 | GEMIN4 | c.2036A>G (p.Glu679Gly) c.2003A>G (p.Glu668Gly) c.2048A>G (p.Glu683Gly) | gnomAD v4 |
17 | g.746007T>G | CA397505832 | GEMIN4 | c.2036A>C (p.Glu679Ala) c.2003A>C (p.Glu668Ala) c.2048A>C (p.Glu683Ala) | |
17 | g.746008C>A | CA397505835 | GEMIN4 | c.2035G>T (p.Glu679Ter) c.2002G>T (p.Glu668Ter) c.2047G>T (p.Glu683Ter) | |
17 | g.746008C>G | CA397505834 | GEMIN4 | c.2035G>C (p.Glu679Gln) c.2002G>C (p.Glu668Gln) c.2047G>C (p.Glu683Gln) | |
17 | g.746008C>T | CA397505833 | GEMIN4 | c.2035G>A (p.Glu679Lys) c.2002G>A (p.Glu668Lys) c.2047G>A (p.Glu683Lys) | |
17 | g.746009T>A | CA497383970 | GEMIN4 | c.2034A>T (p.Leu678=) c.2001A>T (p.Leu667=) c.2046A>T (p.Leu682=) | |
17 | g.746009T>C | CA497383971 | GEMIN4 | c.2034A>G (p.Leu678=) c.2001A>G (p.Leu667=) c.2046A>G (p.Leu682=) | |
17 | g.746009T>G | CA497383973 | GEMIN4 | c.2034A>C (p.Leu678=) c.2001A>C (p.Leu667=) c.2046A>C (p.Leu682=) | |
17 | g.746010A= | CA2242474527 | GEMIN4 | c.2033T= (p.Leu678=) c.2000T= (p.Leu667=) c.2045T= (p.Leu682=) | |
17 | g.746010A>C | CA397505836 | GEMIN4 | c.2033T>G (p.Leu678Arg) c.2000T>G (p.Leu667Arg) c.2045T>G (p.Leu682Arg) | |
17 | g.746010A>G | CA8262503 | GEMIN4 | c.2033T>C (p.Leu678Pro) c.2000T>C (p.Leu667Pro) c.2045T>C (p.Leu682Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746010A>T | CA397505837 | GEMIN4 | c.2033T>A (p.Leu678Gln) c.2000T>A (p.Leu667Gln) c.2045T>A (p.Leu682Gln) | |
17 | g.746011G>A | CA497383979 | GEMIN4 | c.2032C>T (p.Leu678=) c.1999C>T (p.Leu667=) c.2044C>T (p.Leu682=) | |
17 | g.746011G>C | CA397505838 | GEMIN4 | c.2032C>G (p.Leu678Val) c.1999C>G (p.Leu667Val) c.2044C>G (p.Leu682Val) | |
17 | g.746011G>T | CA397505839 | GEMIN4 | c.2032C>A (p.Leu678Ile) c.1999C>A (p.Leu667Ile) c.2044C>A (p.Leu682Ile) | gnomAD v4 |
17 | g.746012A= | CA2242474528 | GEMIN4 | c.2031T= (p.Thr677=) c.1998T= (p.Thr666=) c.2043T= (p.Thr681=) | |
17 | g.746012A>C | CA8262504 | GEMIN4 | c.2031T>G (p.Thr677=) c.1998T>G (p.Thr666=) c.2043T>G (p.Thr681=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746012A>G | CA497383982 | GEMIN4 | c.2031T>C (p.Thr677=) c.1998T>C (p.Thr666=) c.2043T>C (p.Thr681=) | |
17 | g.746012A>T | CA497383983 | GEMIN4 | c.2031T>A (p.Thr677=) c.1998T>A (p.Thr666=) c.2043T>A (p.Thr681=) | |
17 | g.746013G>A | CA8262505 | GEMIN4 | c.2030C>T (p.Thr677Ile) c.1997C>T (p.Thr666Ile) c.2042C>T (p.Thr681Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746013G>C | CA397505840 | GEMIN4 | c.2030C>G (p.Thr677Ser) c.1997C>G (p.Thr666Ser) c.2042C>G (p.Thr681Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746013G= | CA2242474529 | GEMIN4 | c.2030C= (p.Thr677=) c.1997C= (p.Thr666=) c.2042C= (p.Thr681=) | |
17 | g.746013G>T | CA397505841 | GEMIN4 | c.2030C>A (p.Thr677Asn) c.1997C>A (p.Thr666Asn) c.2042C>A (p.Thr681Asn) | |
17 | g.746014T>A | CA397505842 | GEMIN4 | c.2029A>T (p.Thr677Ser) c.1996A>T (p.Thr666Ser) c.2041A>T (p.Thr681Ser) | |
17 | g.746014T>C | CA397505843 | GEMIN4 | c.2029A>G (p.Thr677Ala) c.1996A>G (p.Thr666Ala) c.2041A>G (p.Thr681Ala) | |
17 | g.746014T>G | CA397505844 | GEMIN4 | c.2029A>C (p.Thr677Pro) c.1996A>C (p.Thr666Pro) c.2041A>C (p.Thr681Pro) | gnomAD v3 gnomAD v4 |
17 | g.746015C>A | CA397505845 | GEMIN4 | c.2028G>T (p.Gln676His) c.1995G>T (p.Gln665His) c.2040G>T (p.Gln680His) | |
17 | g.746015C= | CA2242474530 | GEMIN4 | c.2028G= (p.Gln676=) c.1995G= (p.Gln665=) c.2040G= (p.Gln680=) | |
17 | g.746015C>G | CA8262506 | GEMIN4 | c.2028G>C (p.Gln676His) c.1995G>C (p.Gln665His) c.2040G>C (p.Gln680His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746015C>T | CA497383990 | GEMIN4 | c.2028G>A (p.Gln676=) c.1995G>A (p.Gln665=) c.2040G>A (p.Gln680=) | |
17 | g.746016T>A | CA397505846 | GEMIN4 | c.2027A>T (p.Gln676Leu) c.1994A>T (p.Gln665Leu) c.2039A>T (p.Gln680Leu) | |
17 | g.746016T>C | CA397505847 | GEMIN4 | c.2027A>G (p.Gln676Arg) c.1994A>G (p.Gln665Arg) c.2039A>G (p.Gln680Arg) | |
17 | g.746016T>G | CA397505848 | GEMIN4 | c.2027A>C (p.Gln676Pro) c.1994A>C (p.Gln665Pro) c.2039A>C (p.Gln680Pro) | |
17 | g.746017G>A | CA397505849 | GEMIN4 | c.2026C>T (p.Gln676Ter) c.1993C>T (p.Gln665Ter) c.2038C>T (p.Gln680Ter) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746017G>C | CA397505850 | GEMIN4 | c.2026C>G (p.Gln676Glu) c.1993C>G (p.Gln665Glu) c.2038C>G (p.Gln680Glu) | gnomAD v4 |
17 | g.746017G= | CA2242474531 | GEMIN4 | c.2026C= (p.Gln676=) c.1993C= (p.Gln665=) c.2038C= (p.Gln680=) | |
17 | g.746017G>T | CA397505851 | GEMIN4 | c.2026C>A (p.Gln676Lys) c.1993C>A (p.Gln665Lys) c.2038C>A (p.Gln680Lys) | |
17 | g.746018G>A | CA497383997 | GEMIN4 | c.2025C>T (p.Ile675=) c.1992C>T (p.Ile664=) c.2037C>T (p.Ile679=) | |
17 | g.746018G>C | CA397505852 | GEMIN4 | c.2025C>G (p.Ile675Met) c.1992C>G (p.Ile664Met) c.2037C>G (p.Ile679Met) | |
17 | g.746018G>T | CA497383998 | GEMIN4 | c.2025C>A (p.Ile675=) c.1992C>A (p.Ile664=) c.2037C>A (p.Ile679=) | |
17 | g.746019A= | CA2242474532 | GEMIN4 | c.2024T= (p.Ile675=) c.1991T= (p.Ile664=) c.2036T= (p.Ile679=) | |
17 | g.746019A>C | CA286713672 | GEMIN4 | c.2024T>G (p.Ile675Ser) c.1991T>G (p.Ile664Ser) c.2036T>G (p.Ile679Ser) | dbSNP |
17 | g.746019A>G | CA397505853 | GEMIN4 | c.2024T>C (p.Ile675Thr) c.1991T>C (p.Ile664Thr) c.2036T>C (p.Ile679Thr) | dbSNP |
17 | g.746019A>T | CA397505854 | GEMIN4 | c.2024T>A (p.Ile675Asn) c.1991T>A (p.Ile664Asn) c.2036T>A (p.Ile679Asn) | |
17 | g.746020T>A | CA397505855 | GEMIN4 | c.2023A>T (p.Ile675Phe) c.1990A>T (p.Ile664Phe) c.2035A>T (p.Ile679Phe) | |
17 | g.746020T>C | CA397505856 | GEMIN4 | c.2023A>G (p.Ile675Val) c.1990A>G (p.Ile664Val) c.2035A>G (p.Ile679Val) | gnomAD v4 |
17 | g.746020T>G | CA397505857 | GEMIN4 | c.2023A>C (p.Ile675Leu) c.1990A>C (p.Ile664Leu) c.2035A>C (p.Ile679Leu) | |
17 | g.746020_746021delinsTG | CA2242474533 | GEMIN4 | c.2022_2023delinsCA (p.Phe674=) c.1989_1990delinsCA (p.Phe663=) c.2034_2035delinsCA (p.Phe678=) | |
17 | g.746021del | CA8262507 | GEMIN4 | c.2022del (p.Phe674LeufsTer5) c.1989del (p.Phe663LeufsTer5) c.2034del (p.Phe678LeufsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746021G>A | CA497384009 | GEMIN4 | c.2022C>T (p.Phe674=) c.1989C>T (p.Phe663=) c.2034C>T (p.Phe678=) | |
17 | g.746021G>C | CA397505859 | GEMIN4 | c.2022C>G (p.Phe674Leu) c.1989C>G (p.Phe663Leu) c.2034C>G (p.Phe678Leu) | |
17 | g.746021G>T | CA397505858 | GEMIN4 | c.2022C>A (p.Phe674Leu) c.1989C>A (p.Phe663Leu) c.2034C>A (p.Phe678Leu) | COSMIC COSMIC |
17 | g.746022A>C | CA397505860 | GEMIN4 | c.2021T>G (p.Phe674Cys) c.1988T>G (p.Phe663Cys) c.2033T>G (p.Phe678Cys) | |
17 | g.746022A>G | CA397505861 | GEMIN4 | c.2021T>C (p.Phe674Ser) c.1988T>C (p.Phe663Ser) c.2033T>C (p.Phe678Ser) | |
17 | g.746022A>T | CA397505862 | GEMIN4 | c.2021T>A (p.Phe674Tyr) c.1988T>A (p.Phe663Tyr) c.2033T>A (p.Phe678Tyr) | gnomAD v4 |
17 | g.746023A>C | CA397505863 | GEMIN4 | c.2020T>G (p.Phe674Val) c.1987T>G (p.Phe663Val) c.2032T>G (p.Phe678Val) | |
17 | g.746023A>G | CA397505864 | GEMIN4 | c.2020T>C (p.Phe674Leu) c.1987T>C (p.Phe663Leu) c.2032T>C (p.Phe678Leu) | |
17 | g.746023A>T | CA397505865 | GEMIN4 | c.2020T>A (p.Phe674Ile) c.1987T>A (p.Phe663Ile) c.2032T>A (p.Phe678Ile) | |
17 | g.746024G>A | CA497384018 | GEMIN4 | c.2019C>T (p.Ile673=) c.1986C>T (p.Ile662=) c.2031C>T (p.Ile677=) | |
17 | g.746024G>C | CA397505866 | GEMIN4 | c.2019C>G (p.Ile673Met) c.1986C>G (p.Ile662Met) c.2031C>G (p.Ile677Met) | |
17 | g.746024G>T | CA497384021 | GEMIN4 | c.2019C>A (p.Ile673=) c.1986C>A (p.Ile662=) c.2031C>A (p.Ile677=) | |
17 | g.746025A= | CA2242474534 | GEMIN4 | c.2018T= (p.Ile673=) c.1985T= (p.Ile662=) c.2030T= (p.Ile677=) | |
17 | g.746025A>C | CA397505867 | GEMIN4 | c.2018T>G (p.Ile673Ser) c.1985T>G (p.Ile662Ser) c.2030T>G (p.Ile677Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.746025A>G | CA397505868 | GEMIN4 | c.2018T>C (p.Ile673Thr) c.1985T>C (p.Ile662Thr) c.2030T>C (p.Ile677Thr) | dbSNP |
17 | g.746025A>T | CA397505869 | GEMIN4 | c.2018T>A (p.Ile673Asn) c.1985T>A (p.Ile662Asn) c.2030T>A (p.Ile677Asn) | |
17 | g.746026T>A | CA397505870 | GEMIN4 | c.2017A>T (p.Ile673Phe) c.1984A>T (p.Ile662Phe) c.2029A>T (p.Ile677Phe) | |
17 | g.746026T>C | CA397505871 | GEMIN4 | c.2017A>G (p.Ile673Val) c.1984A>G (p.Ile662Val) c.2029A>G (p.Ile677Val) | |
17 | g.746026T>G | CA397505872 | GEMIN4 | c.2017A>C (p.Ile673Leu) c.1984A>C (p.Ile662Leu) c.2029A>C (p.Ile677Leu) | |
17 | g.746027C>A | CA397505873 | GEMIN4 | c.2016G>T (p.Arg672Ser) c.1983G>T (p.Arg661Ser) c.2028G>T (p.Arg676Ser) | |
17 | g.746027C= | CA2242474535 | GEMIN4 | c.2016G= (p.Arg672=) c.1983G= (p.Arg661=) c.2028G= (p.Arg676=) | |
17 | g.746027C>G | CA397505874 | GEMIN4 | c.2016G>C (p.Arg672Ser) c.1983G>C (p.Arg661Ser) c.2028G>C (p.Arg676Ser) | |
17 | g.746027C>T | CA497384023 | GEMIN4 | c.2016G>A (p.Arg672=) c.1983G>A (p.Arg661=) c.2028G>A (p.Arg676=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746028dup | CA2838506408 | GEMIN4 | c.2016dup (p.Ile673AspfsTer?) c.1983dup (p.Ile662AspfsTer?) c.2028dup (p.Ile677AspfsTer?) | |
17 | g.746028C>A | CA397505875 | GEMIN4 | c.2015G>T (p.Arg672Met) c.1982G>T (p.Arg661Met) c.2027G>T (p.Arg676Met) | |
17 | g.746028C>G | CA397505877 | GEMIN4 | c.2015G>C (p.Arg672Thr) c.1982G>C (p.Arg661Thr) c.2027G>C (p.Arg676Thr) | |
17 | g.746028C>T | CA397505876 | GEMIN4 | c.2015G>A (p.Arg672Lys) c.1982G>A (p.Arg661Lys) c.2027G>A (p.Arg676Lys) | |
17 | g.746029T>A | CA286713673 | GEMIN4 | c.2014A>T (p.Arg672Trp) c.1981A>T (p.Arg661Trp) c.2026A>T (p.Arg676Trp) | dbSNP |
17 | g.746029T>C | CA397505878 | GEMIN4 | c.2014A>G (p.Arg672Gly) c.1981A>G (p.Arg661Gly) c.2026A>G (p.Arg676Gly) | |
17 | g.746029T>G | CA497384031 | GEMIN4 | c.2014A>C (p.Arg672=) c.1981A>C (p.Arg661=) c.2026A>C (p.Arg676=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746029T= | CA2242474536 | GEMIN4 | c.2014A= (p.Arg672=) c.1981A= (p.Arg661=) c.2026A= (p.Arg676=) | |
17 | g.746030C>A | CA497384033 | GEMIN4 | c.2013G>T (p.Leu671=) c.1980G>T (p.Leu660=) c.2025G>T (p.Leu675=) | |
17 | g.746030C>G | CA497384035 | GEMIN4 | c.2013G>C (p.Leu671=) c.1980G>C (p.Leu660=) c.2025G>C (p.Leu675=) | |
17 | g.746030C>T | CA497384037 | GEMIN4 | c.2013G>A (p.Leu671=) c.1980G>A (p.Leu660=) c.2025G>A (p.Leu675=) | |
17 | g.746031A= | CA2242474537 | GEMIN4 | c.2012T= (p.Leu671=) c.1979T= (p.Leu660=) c.2024T= (p.Leu675=) | |
17 | g.746031A>C | CA397505879 | GEMIN4 | c.2012T>G (p.Leu671Arg) c.1979T>G (p.Leu660Arg) c.2024T>G (p.Leu675Arg) | |
17 | g.746031A>G | CA397505881 | GEMIN4 | c.2012T>C (p.Leu671Pro) c.1979T>C (p.Leu660Pro) c.2024T>C (p.Leu675Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746031A>T | CA397505880 | GEMIN4 | c.2012T>A (p.Leu671Gln) c.1979T>A (p.Leu660Gln) c.2024T>A (p.Leu675Gln) | |
17 | g.746032G>A | CA8262508 | GEMIN4 | c.2011C>T (p.Leu671=) c.1978C>T (p.Leu660=) c.2023C>T (p.Leu675=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746032G>C | CA397505882 | GEMIN4 | c.2011C>G (p.Leu671Val) c.1978C>G (p.Leu660Val) c.2023C>G (p.Leu675Val) | dbSNP gnomAD v4 COSMIC COSMIC |
17 | g.746032G= | CA2242474538 | GEMIN4 | c.2011C= (p.Leu671=) c.1978C= (p.Leu660=) c.2023C= (p.Leu675=) | |
17 | g.746032G>T | CA397505883 | GEMIN4 | c.2011C>A (p.Leu671Met) c.1978C>A (p.Leu660Met) c.2023C>A (p.Leu675Met) | gnomAD v4 |
17 | g.746033A>C | CA397505884 | GEMIN4 | c.2010T>G (p.Ser670Arg) c.1977T>G (p.Ser659Arg) c.2022T>G (p.Ser674Arg) | |
17 | g.746033A>G | CA497384048 | GEMIN4 | c.2010T>C (p.Ser670=) c.1977T>C (p.Ser659=) c.2022T>C (p.Ser674=) | |
17 | g.746033A>T | CA397505885 | GEMIN4 | c.2010T>A (p.Ser670Arg) c.1977T>A (p.Ser659Arg) c.2022T>A (p.Ser674Arg) | |
17 | g.746033_746037del | CA2825002552 | GEMIN4 | c.2006_2010del (p.Leu669ProfsTer?) c.1973_1977del (p.Leu658ProfsTer?) c.2018_2022del (p.Leu673ProfsTer?) | ClinVar |
17 | g.746034C>A | CA397505886 | GEMIN4 | c.2009G>T (p.Ser670Ile) c.1976G>T (p.Ser659Ile) c.2021G>T (p.Ser674Ile) | |
17 | g.746034C>G | CA397505887 | GEMIN4 | c.2009G>C (p.Ser670Thr) c.1976G>C (p.Ser659Thr) c.2021G>C (p.Ser674Thr) | |
17 | g.746034C>T | CA397505888 | GEMIN4 | c.2009G>A (p.Ser670Asn) c.1976G>A (p.Ser659Asn) c.2021G>A (p.Ser674Asn) | gnomAD v4 |
17 | g.746035T>A | CA397505889 | GEMIN4 | c.2008A>T (p.Ser670Cys) c.1975A>T (p.Ser659Cys) c.2020A>T (p.Ser674Cys) | |
17 | g.746035T>C | CA397505890 | GEMIN4 | c.2008A>G (p.Ser670Gly) c.1975A>G (p.Ser659Gly) c.2020A>G (p.Ser674Gly) | gnomAD v4 |
17 | g.746035T>G | CA397505891 | GEMIN4 | c.2008A>C (p.Ser670Arg) c.1975A>C (p.Ser659Arg) c.2020A>C (p.Ser674Arg) | |
17 | g.746036G>A | CA497384053 | GEMIN4 | c.2007C>T (p.Leu669=) c.1974C>T (p.Leu658=) c.2019C>T (p.Leu673=) | |
17 | g.746036G>C | CA497384055 | GEMIN4 | c.2007C>G (p.Leu669=) c.1974C>G (p.Leu658=) c.2019C>G (p.Leu673=) | |
17 | g.746036G>T | CA497384054 | GEMIN4 | c.2007C>A (p.Leu669=) c.1974C>A (p.Leu658=) c.2019C>A (p.Leu673=) | |
17 | g.746037A>C | CA397505894 | GEMIN4 | c.2006T>G (p.Leu669Arg) c.1973T>G (p.Leu658Arg) c.2018T>G (p.Leu673Arg) | gnomAD v4 |
17 | g.746037A>G | CA397505893 | GEMIN4 | c.2006T>C (p.Leu669Pro) c.1973T>C (p.Leu658Pro) c.2018T>C (p.Leu673Pro) | |
17 | g.746037A>T | CA397505892 | GEMIN4 | c.2006T>A (p.Leu669His) c.1973T>A (p.Leu658His) c.2018T>A (p.Leu673His) | |
17 | g.746038G>A | CA8262509 | GEMIN4 | c.2005C>T (p.Leu669Phe) c.1972C>T (p.Leu658Phe) c.2017C>T (p.Leu673Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.746038G>C | CA397505895 | GEMIN4 | c.2005C>G (p.Leu669Val) c.1972C>G (p.Leu658Val) c.2017C>G (p.Leu673Val) | |
17 | g.746038G= | CA2242474539 | GEMIN4 | c.2005C= (p.Leu669=) c.1972C= (p.Leu658=) c.2017C= (p.Leu673=) | |
17 | g.746038G>T | CA397505896 | GEMIN4 | c.2005C>A (p.Leu669Ile) c.1972C>A (p.Leu658Ile) c.2017C>A (p.Leu673Ile) | |
17 | g.746039G>A | CA497384062 | GEMIN4 | c.2004C>T (p.Asp668=) c.1971C>T (p.Asp657=) c.2016C>T (p.Asp672=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.746039G>C | CA397505897 | GEMIN4 | c.2004C>G (p.Asp668Glu) c.1971C>G (p.Asp657Glu) c.2016C>G (p.Asp672Glu) | |
17 | g.746039G= | CA2242474540 | GEMIN4 | c.2004C= (p.Asp668=) c.1971C= (p.Asp657=) c.2016C= (p.Asp672=) | |
17 | g.746039G>T | CA397505898 | GEMIN4 | c.2004C>A (p.Asp668Glu) c.1971C>A (p.Asp657Glu) c.2016C>A (p.Asp672Glu) | dbSNP gnomAD v4 |
17 | g.746040T>A | CA397505899 | GEMIN4 | c.2003A>T (p.Asp668Val) c.1970A>T (p.Asp657Val) c.2015A>T (p.Asp672Val) | |
17 | g.746040T>C | CA397505900 | GEMIN4 | c.2003A>G (p.Asp668Gly) c.1970A>G (p.Asp657Gly) c.2015A>G (p.Asp672Gly) | |
17 | g.746040T>G | CA397505901 | GEMIN4 | c.2003A>C (p.Asp668Ala) c.1970A>C (p.Asp657Ala) c.2015A>C (p.Asp672Ala) | |
17 | g.746041C>A | CA397505902 | GEMIN4 | c.2002G>T (p.Asp668Tyr) c.1969G>T (p.Asp657Tyr) c.2014G>T (p.Asp672Tyr) | |
17 | g.746041C= | CA2242474541 | GEMIN4 | c.2002G= (p.Asp668=) c.1969G= (p.Asp657=) c.2014G= (p.Asp672=) | |
17 | g.746041C>G | CA397505903 | GEMIN4 | c.2002G>C (p.Asp668His) c.1969G>C (p.Asp657His) c.2014G>C (p.Asp672His) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746041C>T | CA397505904 | GEMIN4 | c.2002G>A (p.Asp668Asn) c.1969G>A (p.Asp657Asn) c.2014G>A (p.Asp672Asn) | COSMIC |
17 | g.746042T>A | CA497384073 | GEMIN4 | c.2001A>T (p.Val667=) c.1968A>T (p.Val656=) c.2013A>T (p.Val671=) | |
17 | g.746042T>C | CA497384075 | GEMIN4 | c.2001A>G (p.Val667=) c.1968A>G (p.Val656=) c.2013A>G (p.Val671=) | |
17 | g.746042T>G | CA497384074 | GEMIN4 | c.2001A>C (p.Val667=) c.1968A>C (p.Val656=) c.2013A>C (p.Val671=) | |
17 | g.746043A>C | CA397505907 | GEMIN4 | c.2000T>G (p.Val667Gly) c.1967T>G (p.Val656Gly) c.2012T>G (p.Val671Gly) | |
17 | g.746043A>G | CA397505906 | GEMIN4 | c.2000T>C (p.Val667Ala) c.1967T>C (p.Val656Ala) c.2012T>C (p.Val671Ala) | |
17 | g.746043A>T | CA397505905 | GEMIN4 | c.2000T>A (p.Val667Glu) c.1967T>A (p.Val656Glu) c.2012T>A (p.Val671Glu) | |
17 | g.746044C>A | CA397505908 | GEMIN4 | c.1999G>T (p.Val667Leu) c.1966G>T (p.Val656Leu) c.2011G>T (p.Val671Leu) | |
17 | g.746044C>G | CA397505909 | GEMIN4 | c.1999G>C (p.Val667Leu) c.1966G>C (p.Val656Leu) c.2011G>C (p.Val671Leu) | |
17 | g.746044C>T | CA397505910 | GEMIN4 | c.1999G>A (p.Val667Ile) c.1966G>A (p.Val656Ile) c.2011G>A (p.Val671Ile) | gnomAD v4 |
17 | g.746045C>A | CA397505911 | GEMIN4 | c.1998G>T (p.Glu666Asp) c.1965G>T (p.Glu655Asp) c.2010G>T (p.Glu670Asp) | |
17 | g.746045C>G | CA397505912 | GEMIN4 | c.1998G>C (p.Glu666Asp) c.1965G>C (p.Glu655Asp) c.2010G>C (p.Glu670Asp) | gnomAD v4 |
17 | g.746045C>T | CA497384080 | GEMIN4 | c.1998G>A (p.Glu666=) c.1965G>A (p.Glu655=) c.2010G>A (p.Glu670=) | gnomAD v4 |
17 | g.746045_746048delinsCTCT | CA2242474542 | GEMIN4 | c.1995_1998delinsAGAG (p.Glu665=) c.1962_1965delinsAGAG (p.Glu654=) c.2007_2010delinsAGAG (p.Glu669=) | |
17 | g.746046T>A | CA397505913 | GEMIN4 | c.1997A>T (p.Glu666Val) c.1964A>T (p.Glu655Val) c.2009A>T (p.Glu670Val) | |
17 | g.746046T>C | CA397505914 | GEMIN4 | c.1997A>G (p.Glu666Gly) c.1964A>G (p.Glu655Gly) c.2009A>G (p.Glu670Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746046T>G | CA397505915 | GEMIN4 | c.1997A>C (p.Glu666Ala) c.1964A>C (p.Glu655Ala) c.2009A>C (p.Glu670Ala) | |
17 | g.746046T= | CA2242474544 | GEMIN4 | c.1997A= (p.Glu666=) c.1964A= (p.Glu655=) c.2009A= (p.Glu670=) | |
17 | g.746048_746050del | CA2242474543 | GEMIN4 | c.1995_1997del (p.Glu666del) c.1962_1964del (p.Glu655del) c.2007_2009del (p.Glu670del) | dbSNP |
17 | g.746047C>A | CA397505916 | GEMIN4 | c.1996G>T (p.Glu666Ter) c.1963G>T (p.Glu655Ter) c.2008G>T (p.Glu670Ter) | |
17 | g.746047C= | CA2242474545 | GEMIN4 | c.1996G= (p.Glu666=) c.1963G= (p.Glu655=) c.2008G= (p.Glu670=) | |
17 | g.746047C>G | CA397505917 | GEMIN4 | c.1996G>C (p.Glu666Gln) c.1963G>C (p.Glu655Gln) c.2008G>C (p.Glu670Gln) | COSMIC COSMIC |
17 | g.746047C>T | CA397505918 | GEMIN4 | c.1996G>A (p.Glu666Lys) c.1963G>A (p.Glu655Lys) c.2008G>A (p.Glu670Lys) | dbSNP |
17 | g.746048T>A | CA397505919 | GEMIN4 | c.1995A>T (p.Glu665Asp) c.1962A>T (p.Glu654Asp) c.2007A>T (p.Glu669Asp) | |
17 | g.746048T>C | CA497384088 | GEMIN4 | c.1995A>G (p.Glu665=) c.1962A>G (p.Glu654=) c.2007A>G (p.Glu669=) | |
17 | g.746048T>G | CA397505920 | GEMIN4 | c.1995A>C (p.Glu665Asp) c.1962A>C (p.Glu654Asp) c.2007A>C (p.Glu669Asp) | dbSNP |
17 | g.746048T= | CA2242474546 | GEMIN4 | c.1995A= (p.Glu665=) c.1962A= (p.Glu654=) c.2007A= (p.Glu669=) | |
17 | g.746049T>A | CA397505923 | GEMIN4 | c.1994A>T (p.Glu665Val) c.1961A>T (p.Glu654Val) c.2006A>T (p.Glu669Val) | |
17 | g.746049T>C | CA397505921 | GEMIN4 | c.1994A>G (p.Glu665Gly) c.1961A>G (p.Glu654Gly) c.2006A>G (p.Glu669Gly) | |
17 | g.746049T>G | CA397505922 | GEMIN4 | c.1994A>C (p.Glu665Ala) c.1961A>C (p.Glu654Ala) c.2006A>C (p.Glu669Ala) | |
17 | g.746050C>A | CA397505924 | GEMIN4 | c.1993G>T (p.Glu665Ter) c.1960G>T (p.Glu654Ter) c.2005G>T (p.Glu669Ter) | |
17 | g.746050C>G | CA397505925 | GEMIN4 | c.1993G>C (p.Glu665Gln) c.1960G>C (p.Glu654Gln) c.2005G>C (p.Glu669Gln) | |
17 | g.746050C>T | CA397505926 | GEMIN4 | c.1993G>A (p.Glu665Lys) c.1960G>A (p.Glu654Lys) c.2005G>A (p.Glu669Lys) | dbSNP |
17 | g.746051A>C | CA497384092 | GEMIN4 | c.1992T>G (p.Val664=) c.1959T>G (p.Val653=) c.2004T>G (p.Val668=) | gnomAD v4 |
17 | g.746051A>G | CA497384093 | GEMIN4 | c.1992T>C (p.Val664=) c.1959T>C (p.Val653=) c.2004T>C (p.Val668=) | |
17 | g.746051A>T | CA497384094 | GEMIN4 | c.1992T>A (p.Val664=) c.1959T>A (p.Val653=) c.2004T>A (p.Val668=) | |
17 | g.746052A>C | CA397505927 | GEMIN4 | c.1991T>G (p.Val664Gly) c.1958T>G (p.Val653Gly) c.2003T>G (p.Val668Gly) | |
17 | g.746052A>G | CA397505928 | GEMIN4 | c.1991T>C (p.Val664Ala) c.1958T>C (p.Val653Ala) c.2003T>C (p.Val668Ala) | |
17 | g.746052A>T | CA397505929 | GEMIN4 | c.1991T>A (p.Val664Asp) c.1958T>A (p.Val653Asp) c.2003T>A (p.Val668Asp) | |
17 | g.746053del | CA2635153309 | GEMIN4 | c.1990del (p.Val664LeufsTer4) c.1957del (p.Val653LeufsTer4) c.2002del (p.Val668LeufsTer4) | gnomAD v4 |
17 | g.746053C>A | CA397505930 | GEMIN4 | c.1990G>T (p.Val664Phe) c.1957G>T (p.Val653Phe) c.2002G>T (p.Val668Phe) | |
17 | g.746053C>G | CA397505931 | GEMIN4 | c.1990G>C (p.Val664Leu) c.1957G>C (p.Val653Leu) c.2002G>C (p.Val668Leu) | |
17 | g.746053C>T | CA397505932 | GEMIN4 | c.1990G>A (p.Val664Ile) c.1957G>A (p.Val653Ile) c.2002G>A (p.Val668Ile) | |
17 | g.746054A= | CA2242474547 | GEMIN4 | c.1989T= (p.Asp663=) c.1956T= (p.Asp652=) c.2001T= (p.Asp667=) | |
17 | g.746054A>C | CA397505933 | GEMIN4 | c.1989T>G (p.Asp663Glu) c.1956T>G (p.Asp652Glu) c.2001T>G (p.Asp667Glu) | |
17 | g.746054A>G | CA497384097 | GEMIN4 | c.1989T>C (p.Asp663=) c.1956T>C (p.Asp652=) c.2001T>C (p.Asp667=) | |
17 | g.746054A>T | CA397505934 | GEMIN4 | c.1989T>A (p.Asp663Glu) c.1956T>A (p.Asp652Glu) c.2001T>A (p.Asp667Glu) | dbSNP |
17 | g.746055T>A | CA397505936 | GEMIN4 | c.1988A>T (p.Asp663Val) c.1955A>T (p.Asp652Val) c.2000A>T (p.Asp667Val) | |
17 | g.746055T>C | CA397505935 | GEMIN4 | c.1988A>G (p.Asp663Gly) c.1955A>G (p.Asp652Gly) c.2000A>G (p.Asp667Gly) | |
17 | g.746055T>G | CA8262510 | GEMIN4 | c.1988A>C (p.Asp663Ala) c.1955A>C (p.Asp652Ala) c.2000A>C (p.Asp667Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746055T= | CA2242474548 | GEMIN4 | c.1988A= (p.Asp663=) c.1955A= (p.Asp652=) c.2000A= (p.Asp667=) | |
17 | g.746056C>A | CA397505937 | GEMIN4 | c.1987G>T (p.Asp663Tyr) c.1954G>T (p.Asp652Tyr) c.1999G>T (p.Asp667Tyr) | |
17 | g.746056C>G | CA397505939 | GEMIN4 | c.1987G>C (p.Asp663His) c.1954G>C (p.Asp652His) c.1999G>C (p.Asp667His) | |
17 | g.746056C>T | CA397505938 | GEMIN4 | c.1987G>A (p.Asp663Asn) c.1954G>A (p.Asp652Asn) c.1999G>A (p.Asp667Asn) | |
17 | g.746057T>A | CA397505940 | GEMIN4 | c.1986A>T (p.Leu662Phe) c.1953A>T (p.Leu651Phe) c.1998A>T (p.Leu666Phe) | |
17 | g.746057T>C | CA497384108 | GEMIN4 | c.1986A>G (p.Leu662=) c.1953A>G (p.Leu651=) c.1998A>G (p.Leu666=) | |
17 | g.746057T>G | CA397505941 | GEMIN4 | c.1986A>C (p.Leu662Phe) c.1953A>C (p.Leu651Phe) c.1998A>C (p.Leu666Phe) | |
17 | g.746058A>C | CA397505942 | GEMIN4 | c.1985T>G (p.Leu662Ter) c.1952T>G (p.Leu651Ter) c.1997T>G (p.Leu666Ter) | |
17 | g.746058A>G | CA397505943 | GEMIN4 | c.1985T>C (p.Leu662Ser) c.1952T>C (p.Leu651Ser) c.1997T>C (p.Leu666Ser) | |
17 | g.746058A>T | CA397505944 | GEMIN4 | c.1985T>A (p.Leu662Ter) c.1952T>A (p.Leu651Ter) c.1997T>A (p.Leu666Ter) | |
17 | g.746059A>C | CA397505945 | GEMIN4 | c.1984T>G (p.Leu662Val) c.1951T>G (p.Leu651Val) c.1996T>G (p.Leu666Val) | |
17 | g.746059A>G | CA497384120 | GEMIN4 | c.1984T>C (p.Leu662=) c.1951T>C (p.Leu651=) c.1996T>C (p.Leu666=) | COSMIC |
17 | g.746059A>T | CA397505946 | GEMIN4 | c.1984T>A (p.Leu662Ile) c.1951T>A (p.Leu651Ile) c.1996T>A (p.Leu666Ile) | |
17 | g.746060C>A | CA397505947 | GEMIN4 | c.1983G>T (p.Arg661Ser) c.1950G>T (p.Arg650Ser) c.1995G>T (p.Arg665Ser) | |
17 | g.746060C>G | CA397505948 | GEMIN4 | c.1983G>C (p.Arg661Ser) c.1950G>C (p.Arg650Ser) c.1995G>C (p.Arg665Ser) | |
17 | g.746060C>T | CA497384124 | GEMIN4 | c.1983G>A (p.Arg661=) c.1950G>A (p.Arg650=) c.1995G>A (p.Arg665=) | |
17 | g.746061C>A | CA397505949 | GEMIN4 | c.1982G>T (p.Arg661Met) c.1949G>T (p.Arg650Met) c.1994G>T (p.Arg665Met) | |
17 | g.746061C= | CA2242474549 | GEMIN4 | c.1982G= (p.Arg661=) c.1949G= (p.Arg650=) c.1994G= (p.Arg665=) | |
17 | g.746061C>G | CA397505950 | GEMIN4 | c.1982G>C (p.Arg661Thr) c.1949G>C (p.Arg650Thr) c.1994G>C (p.Arg665Thr) | |
17 | g.746061C>T | CA8262511 | GEMIN4 | c.1982G>A (p.Arg661Lys) c.1949G>A (p.Arg650Lys) c.1994G>A (p.Arg665Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746062T>A | CA8262512 | GEMIN4 | c.1981A>T (p.Arg661Trp) c.1948A>T (p.Arg650Trp) c.1993A>T (p.Arg665Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746062T>C | CA397505951 | GEMIN4 | c.1981A>G (p.Arg661Gly) c.1948A>G (p.Arg650Gly) c.1993A>G (p.Arg665Gly) | |
17 | g.746062T>G | CA497384130 | GEMIN4 | c.1981A>C (p.Arg661=) c.1948A>C (p.Arg650=) c.1993A>C (p.Arg665=) | |
17 | g.746062T= | CA2242474550 | GEMIN4 | c.1981A= (p.Arg661=) c.1948A= (p.Arg650=) c.1993A= (p.Arg665=) | |
17 | g.746063C>A | CA397505952 | GEMIN4 | c.1980G>T (p.Leu660Phe) c.1947G>T (p.Leu649Phe) c.1992G>T (p.Leu664Phe) | |
17 | g.746063C>G | CA397505953 | GEMIN4 | c.1980G>C (p.Leu660Phe) c.1947G>C (p.Leu649Phe) c.1992G>C (p.Leu664Phe) | |
17 | g.746063C>T | CA497384131 | GEMIN4 | c.1980G>A (p.Leu660=) c.1947G>A (p.Leu649=) c.1992G>A (p.Leu664=) | |
17 | g.746064A>C | CA397505954 | GEMIN4 | c.1979T>G (p.Leu660Trp) c.1946T>G (p.Leu649Trp) c.1991T>G (p.Leu664Trp) | gnomAD v4 COSMIC COSMIC |
17 | g.746064A>G | CA397505955 | GEMIN4 | c.1979T>C (p.Leu660Ser) c.1946T>C (p.Leu649Ser) c.1991T>C (p.Leu664Ser) | |
17 | g.746064A>T | CA397505956 | GEMIN4 | c.1979T>A (p.Leu660Ter) c.1946T>A (p.Leu649Ter) c.1991T>A (p.Leu664Ter) | |
17 | g.746065A>C | CA397505957 | GEMIN4 | c.1978T>G (p.Leu660Val) c.1945T>G (p.Leu649Val) c.1990T>G (p.Leu664Val) | |
17 | g.746065A>G | CA497384136 | GEMIN4 | c.1978T>C (p.Leu660=) c.1945T>C (p.Leu649=) c.1990T>C (p.Leu664=) | |
17 | g.746065A>T | CA397505958 | GEMIN4 | c.1978T>A (p.Leu660Met) c.1945T>A (p.Leu649Met) c.1990T>A (p.Leu664Met) | |
17 | g.746066G>A | CA497384137 | GEMIN4 | c.1977C>T (p.Phe659=) c.1944C>T (p.Phe648=) c.1989C>T (p.Phe663=) | |
17 | g.746066G>C | CA397505959 | GEMIN4 | c.1977C>G (p.Phe659Leu) c.1944C>G (p.Phe648Leu) c.1989C>G (p.Phe663Leu) | |
17 | g.746066G>T | CA397505960 | GEMIN4 | c.1977C>A (p.Phe659Leu) c.1944C>A (p.Phe648Leu) c.1989C>A (p.Phe663Leu) | |
17 | g.746066_746067delinsGA | CA2242474551 | GEMIN4 | c.1976_1977delinsTC (p.Phe659=) c.1943_1944delinsTC (p.Phe648=) c.1988_1989delinsTC (p.Phe663=) | |
17 | g.746067A>C | CA397505961 | GEMIN4 | c.1976T>G (p.Phe659Cys) c.1943T>G (p.Phe648Cys) c.1988T>G (p.Phe663Cys) | |
17 | g.746067A>G | CA397505962 | GEMIN4 | c.1976T>C (p.Phe659Ser) c.1943T>C (p.Phe648Ser) c.1988T>C (p.Phe663Ser) | |
17 | g.746067A>T | CA397505963 | GEMIN4 | c.1976T>A (p.Phe659Tyr) c.1943T>A (p.Phe648Tyr) c.1988T>A (p.Phe663Tyr) | |
17 | g.746069del | CA774955596 | GEMIN4 | c.1976del (p.Phe659SerfsTer2) c.1943del (p.Phe648SerfsTer2) c.1988del (p.Phe663SerfsTer2) | dbSNP |
17 | g.746068A>C | CA397505964 | GEMIN4 | c.1975T>G (p.Phe659Val) c.1942T>G (p.Phe648Val) c.1987T>G (p.Phe663Val) | gnomAD v4 |
17 | g.746068A>G | CA397505966 | GEMIN4 | c.1975T>C (p.Phe659Leu) c.1942T>C (p.Phe648Leu) c.1987T>C (p.Phe663Leu) | |
17 | g.746068A>T | CA397505965 | GEMIN4 | c.1975T>A (p.Phe659Ile) c.1942T>A (p.Phe648Ile) c.1987T>A (p.Phe663Ile) | |
17 | g.746069A>C | CA497384142 | GEMIN4 | c.1974T>G (p.Pro658=) c.1941T>G (p.Pro647=) c.1986T>G (p.Pro662=) | |
17 | g.746069A>G | CA497384143 | GEMIN4 | c.1974T>C (p.Pro658=) c.1941T>C (p.Pro647=) c.1986T>C (p.Pro662=) | |
17 | g.746069A>T | CA497384144 | GEMIN4 | c.1974T>A (p.Pro658=) c.1941T>A (p.Pro647=) c.1986T>A (p.Pro662=) | |
17 | g.746070G>A | CA286713674 | GEMIN4 | c.1973C>T (p.Pro658Leu) c.1940C>T (p.Pro647Leu) c.1985C>T (p.Pro662Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746070G>C | CA397505967 | GEMIN4 | c.1973C>G (p.Pro658Arg) c.1940C>G (p.Pro647Arg) c.1985C>G (p.Pro662Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746070G= | CA2242474552 | GEMIN4 | c.1973C= (p.Pro658=) c.1940C= (p.Pro647=) c.1985C= (p.Pro662=) | |
17 | g.746070G>T | CA397505968 | GEMIN4 | c.1973C>A (p.Pro658His) c.1940C>A (p.Pro647His) c.1985C>A (p.Pro662His) | |
17 | g.746071G>A | CA397505969 | GEMIN4 | c.1972C>T (p.Pro658Ser) c.1939C>T (p.Pro647Ser) c.1984C>T (p.Pro662Ser) | |
17 | g.746071G>C | CA397505970 | GEMIN4 | c.1972C>G (p.Pro658Ala) c.1939C>G (p.Pro647Ala) c.1984C>G (p.Pro662Ala) | gnomAD v4 |
17 | g.746071G>T | CA397505971 | GEMIN4 | c.1972C>A (p.Pro658Thr) c.1939C>A (p.Pro647Thr) c.1984C>A (p.Pro662Thr) | |
17 | g.746072C>A | CA497384147 | GEMIN4 | c.1971G>T (p.Leu657=) c.1938G>T (p.Leu646=) c.1983G>T (p.Leu661=) | |
17 | g.746072C>G | CA497384149 | GEMIN4 | c.1971G>C (p.Leu657=) c.1938G>C (p.Leu646=) c.1983G>C (p.Leu661=) | |
17 | g.746072C>T | CA497384152 | GEMIN4 | c.1971G>A (p.Leu657=) c.1938G>A (p.Leu646=) c.1983G>A (p.Leu661=) | |
17 | g.746073A= | CA2242474553 | GEMIN4 | c.1970T= (p.Leu657=) c.1937T= (p.Leu646=) c.1982T= (p.Leu661=) | |
17 | g.746073A>C | CA397505972 | GEMIN4 | c.1970T>G (p.Leu657Arg) c.1937T>G (p.Leu646Arg) c.1982T>G (p.Leu661Arg) | |
17 | g.746073A>G | CA397505973 | GEMIN4 | c.1970T>C (p.Leu657Pro) c.1937T>C (p.Leu646Pro) c.1982T>C (p.Leu661Pro) | dbSNP |
17 | g.746073A>T | CA397505974 | GEMIN4 | c.1970T>A (p.Leu657Gln) c.1937T>A (p.Leu646Gln) c.1982T>A (p.Leu661Gln) | |
17 | g.746074G>A | CA497384155 | GEMIN4 | c.1969C>T (p.Leu657=) c.1936C>T (p.Leu646=) c.1981C>T (p.Leu661=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746074G>C | CA397505975 | GEMIN4 | c.1969C>G (p.Leu657Val) c.1936C>G (p.Leu646Val) c.1981C>G (p.Leu661Val) | |
17 | g.746074G= | CA2242474554 | GEMIN4 | c.1969C= (p.Leu657=) c.1936C= (p.Leu646=) c.1981C= (p.Leu661=) | |
17 | g.746074G>T | CA397505976 | GEMIN4 | c.1969C>A (p.Leu657Met) c.1936C>A (p.Leu646Met) c.1981C>A (p.Leu661Met) | |
17 | g.746075G>A | CA497384157 | GEMIN4 | c.1968C>T (p.Val656=) c.1935C>T (p.Val645=) c.1980C>T (p.Val660=) | |
17 | g.746075G>C | CA497384159 | GEMIN4 | c.1968C>G (p.Val656=) c.1935C>G (p.Val645=) c.1980C>G (p.Val660=) | |
17 | g.746075G>T | CA497384162 | GEMIN4 | c.1968C>A (p.Val656=) c.1935C>A (p.Val645=) c.1980C>A (p.Val660=) | |
17 | g.746076A>C | CA397505979 | GEMIN4 | c.1967T>G (p.Val656Gly) c.1934T>G (p.Val645Gly) c.1979T>G (p.Val660Gly) | |
17 | g.746076A>G | CA397505978 | GEMIN4 | c.1967T>C (p.Val656Ala) c.1934T>C (p.Val645Ala) c.1979T>C (p.Val660Ala) | |
17 | g.746076A>T | CA397505977 | GEMIN4 | c.1967T>A (p.Val656Asp) c.1934T>A (p.Val645Asp) c.1979T>A (p.Val660Asp) | |
17 | g.746077C>A | CA8262513 | GEMIN4 | c.1966G>T (p.Val656Phe) c.1933G>T (p.Val645Phe) c.1978G>T (p.Val660Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746077C= | CA2242474555 | GEMIN4 | c.1966G= (p.Val656=) c.1933G= (p.Val645=) c.1978G= (p.Val660=) | |
17 | g.746077C>G | CA397505980 | GEMIN4 | c.1966G>C (p.Val656Leu) c.1933G>C (p.Val645Leu) c.1978G>C (p.Val660Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746077C>T | CA397505981 | GEMIN4 | c.1966G>A (p.Val656Ile) c.1933G>A (p.Val645Ile) c.1978G>A (p.Val660Ile) | gnomAD v4 |
17 | g.746078A>C | CA397505982 | GEMIN4 | c.1965T>G (p.Phe655Leu) c.1932T>G (p.Phe644Leu) c.1977T>G (p.Phe659Leu) | |
17 | g.746078A>G | CA497383739 | GEMIN4 | c.1965T>C (p.Phe655=) c.1932T>C (p.Phe644=) c.1977T>C (p.Phe659=) | |
17 | g.746078A>T | CA397505983 | GEMIN4 | c.1965T>A (p.Phe655Leu) c.1932T>A (p.Phe644Leu) c.1977T>A (p.Phe659Leu) | |
17 | g.746079A= | CA2242474556 | GEMIN4 | c.1964T= (p.Phe655=) c.1931T= (p.Phe644=) c.1976T= (p.Phe659=) | |
17 | g.746079A>C | CA8262514 | GEMIN4 | c.1964T>G (p.Phe655Cys) c.1931T>G (p.Phe644Cys) c.1976T>G (p.Phe659Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746079A>G | CA397505984 | GEMIN4 | c.1964T>C (p.Phe655Ser) c.1931T>C (p.Phe644Ser) c.1976T>C (p.Phe659Ser) | |
17 | g.746079A>T | CA397505985 | GEMIN4 | c.1964T>A (p.Phe655Tyr) c.1931T>A (p.Phe644Tyr) c.1976T>A (p.Phe659Tyr) | |
17 | g.746080A>C | CA397505986 | GEMIN4 | c.1963T>G (p.Phe655Val) c.1930T>G (p.Phe644Val) c.1975T>G (p.Phe659Val) | gnomAD v4 |
17 | g.746080A>G | CA397505987 | GEMIN4 | c.1963T>C (p.Phe655Leu) c.1930T>C (p.Phe644Leu) c.1975T>C (p.Phe659Leu) | |
17 | g.746080A>T | CA397505988 | GEMIN4 | c.1963T>A (p.Phe655Ile) c.1930T>A (p.Phe644Ile) c.1975T>A (p.Phe659Ile) | |
17 | g.746081T>A | CA397505989 | GEMIN4 | c.1962A>T (p.Glu654Asp) c.1929A>T (p.Glu643Asp) c.1974A>T (p.Glu658Asp) | |
17 | g.746081T>C | CA497383742 | GEMIN4 | c.1962A>G (p.Glu654=) c.1929A>G (p.Glu643=) c.1974A>G (p.Glu658=) | |
17 | g.746081T>G | CA397505990 | GEMIN4 | c.1962A>C (p.Glu654Asp) c.1929A>C (p.Glu643Asp) c.1974A>C (p.Glu658Asp) | |
17 | g.746084_746087dup | CA2635153312 | GEMIN4 | c.1959_1962dup (p.Phe655GlyfsTer12) c.1926_1929dup (p.Phe644GlyfsTer12) c.1971_1974dup (p.Phe659GlyfsTer12) | gnomAD v4 |
17 | g.746082T>A | CA397505993 | GEMIN4 | c.1961A>T (p.Glu654Val) c.1928A>T (p.Glu643Val) c.1973A>T (p.Glu658Val) | |
17 | g.746082T>C | CA397505992 | GEMIN4 | c.1961A>G (p.Glu654Gly) c.1928A>G (p.Glu643Gly) c.1973A>G (p.Glu658Gly) | |
17 | g.746082T>G | CA397505991 | GEMIN4 | c.1961A>C (p.Glu654Ala) c.1928A>C (p.Glu643Ala) c.1973A>C (p.Glu658Ala) | |
17 | g.746083C>A | CA397505995 | GEMIN4 | c.1960G>T (p.Glu654Ter) c.1927G>T (p.Glu643Ter) c.1972G>T (p.Glu658Ter) | |
17 | g.746083C>G | CA397505994 | GEMIN4 | c.1960G>C (p.Glu654Gln) c.1927G>C (p.Glu643Gln) c.1972G>C (p.Glu658Gln) | |
17 | g.746083C>T | CA397505996 | GEMIN4 | c.1960G>A (p.Glu654Lys) c.1927G>A (p.Glu643Lys) c.1972G>A (p.Glu658Lys) | gnomAD v4 |
17 | g.746084C>A | CA397505997 | GEMIN4 | c.1959G>T (p.Lys653Asn) c.1926G>T (p.Lys642Asn) c.1971G>T (p.Lys657Asn) | |
17 | g.746084C= | CA2242474557 | GEMIN4 | c.1959G= (p.Lys653=) c.1926G= (p.Lys642=) c.1971G= (p.Lys657=) | |
17 | g.746084C>G | CA397505998 | GEMIN4 | c.1959G>C (p.Lys653Asn) c.1926G>C (p.Lys642Asn) c.1971G>C (p.Lys657Asn) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746084C>T | CA497383746 | GEMIN4 | c.1959G>A (p.Lys653=) c.1926G>A (p.Lys642=) c.1971G>A (p.Lys657=) | dbSNP gnomAD v4 |
17 | g.746085T>A | CA397505999 | GEMIN4 | c.1958A>T (p.Lys653Met) c.1925A>T (p.Lys642Met) c.1970A>T (p.Lys657Met) | |
17 | g.746085T>C | CA397506000 | GEMIN4 | c.1958A>G (p.Lys653Arg) c.1925A>G (p.Lys642Arg) c.1970A>G (p.Lys657Arg) | |
17 | g.746085T>G | CA397506001 | GEMIN4 | c.1958A>C (p.Lys653Thr) c.1925A>C (p.Lys642Thr) c.1970A>C (p.Lys657Thr) | |
17 | g.746086T>A | CA397506002 | GEMIN4 | c.1957A>T (p.Lys653Ter) c.1924A>T (p.Lys642Ter) c.1969A>T (p.Lys657Ter) | COSMIC COSMIC |
17 | g.746086T>C | CA397506003 | GEMIN4 | c.1957A>G (p.Lys653Glu) c.1924A>G (p.Lys642Glu) c.1969A>G (p.Lys657Glu) | |
17 | g.746086T>G | CA397506004 | GEMIN4 | c.1957A>C (p.Lys653Gln) c.1924A>C (p.Lys642Gln) c.1969A>C (p.Lys657Gln) | |
17 | g.746087C>A | CA497383750 | GEMIN4 | c.1956G>T (p.Leu652=) c.1923G>T (p.Leu641=) c.1968G>T (p.Leu656=) | |
17 | g.746087C>G | CA497383751 | GEMIN4 | c.1956G>C (p.Leu652=) c.1923G>C (p.Leu641=) c.1968G>C (p.Leu656=) | |
17 | g.746087C>T | CA497383752 | GEMIN4 | c.1956G>A (p.Leu652=) c.1923G>A (p.Leu641=) c.1968G>A (p.Leu656=) | |
17 | g.746088A>C | CA397506005 | GEMIN4 | c.1955T>G (p.Leu652Arg) c.1922T>G (p.Leu641Arg) c.1967T>G (p.Leu656Arg) | |
17 | g.746088A>G | CA397506006 | GEMIN4 | c.1955T>C (p.Leu652Pro) c.1922T>C (p.Leu641Pro) c.1967T>C (p.Leu656Pro) | |
17 | g.746088A>T | CA397506007 | GEMIN4 | c.1955T>A (p.Leu652Gln) c.1922T>A (p.Leu641Gln) c.1967T>A (p.Leu656Gln) | |
17 | g.746089G>A | CA497383755 | GEMIN4 | c.1954C>T (p.Leu652=) c.1921C>T (p.Leu641=) c.1966C>T (p.Leu656=) | gnomAD v4 |
17 | g.746089G>C | CA397506008 | GEMIN4 | c.1954C>G (p.Leu652Val) c.1921C>G (p.Leu641Val) c.1966C>G (p.Leu656Val) | |
17 | g.746089G>T | CA397506009 | GEMIN4 | c.1954C>A (p.Leu652Met) c.1921C>A (p.Leu641Met) c.1966C>A (p.Leu656Met) | |
17 | g.746090C>A | CA497383758 | GEMIN4 | c.1953G>T (p.Val651=) c.1920G>T (p.Val640=) c.1965G>T (p.Val655=) | |
17 | g.746090C= | CA2242474558 | GEMIN4 | c.1953G= (p.Val651=) c.1920G= (p.Val640=) c.1965G= (p.Val655=) | |
17 | g.746090C>G | CA497383759 | GEMIN4 | c.1953G>C (p.Val651=) c.1920G>C (p.Val640=) c.1965G>C (p.Val655=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.746090C>T | CA497383760 | GEMIN4 | c.1953G>A (p.Val651=) c.1920G>A (p.Val640=) c.1965G>A (p.Val655=) | |
17 | g.746091A= | CA2242474559 | GEMIN4 | c.1952T= (p.Val651=) c.1919T= (p.Val640=) c.1964T= (p.Val655=) | |
17 | g.746091A>C | CA397506010 | GEMIN4 | c.1952T>G (p.Val651Gly) c.1919T>G (p.Val640Gly) c.1964T>G (p.Val655Gly) | dbSNP |
17 | g.746091A>G | CA397506012 | GEMIN4 | c.1952T>C (p.Val651Ala) c.1919T>C (p.Val640Ala) c.1964T>C (p.Val655Ala) | |
17 | g.746091A>T | CA397506011 | GEMIN4 | c.1952T>A (p.Val651Glu) c.1919T>A (p.Val640Glu) c.1964T>A (p.Val655Glu) | |
17 | g.746092C>A | CA397506013 | GEMIN4 | c.1951G>T (p.Val651Leu) c.1918G>T (p.Val640Leu) c.1963G>T (p.Val655Leu) | gnomAD v4 |
17 | g.746092C= | CA2242474560 | GEMIN4 | c.1951G= (p.Val651=) c.1918G= (p.Val640=) c.1963G= (p.Val655=) | |
17 | g.746092C>G | CA397506014 | GEMIN4 | c.1951G>C (p.Val651Leu) c.1918G>C (p.Val640Leu) c.1963G>C (p.Val655Leu) | |
17 | g.746092C>T | CA397506015 | GEMIN4 | c.1951G>A (p.Val651Met) c.1918G>A (p.Val640Met) c.1963G>A (p.Val655Met) | dbSNP gnomAD v4 |
17 | g.746093C>A | CA397506016 | GEMIN4 | c.1950G>T (p.Glu650Asp) c.1917G>T (p.Glu639Asp) c.1962G>T (p.Glu654Asp) | |
17 | g.746093C>G | CA397506017 | GEMIN4 | c.1950G>C (p.Glu650Asp) c.1917G>C (p.Glu639Asp) c.1962G>C (p.Glu654Asp) | |
17 | g.746093C>T | CA497383765 | GEMIN4 | c.1950G>A (p.Glu650=) c.1917G>A (p.Glu639=) c.1962G>A (p.Glu654=) | |
17 | g.746094T>A | CA397506018 | GEMIN4 | c.1949A>T (p.Glu650Val) c.1916A>T (p.Glu639Val) c.1961A>T (p.Glu654Val) | |
17 | g.746094T>C | CA397506019 | GEMIN4 | c.1949A>G (p.Glu650Gly) c.1916A>G (p.Glu639Gly) c.1961A>G (p.Glu654Gly) | |
17 | g.746094T>G | CA397506020 | GEMIN4 | c.1949A>C (p.Glu650Ala) c.1916A>C (p.Glu639Ala) c.1961A>C (p.Glu654Ala) | |
17 | g.746095C>A | CA397506021 | GEMIN4 | c.1948G>T (p.Glu650Ter) c.1915G>T (p.Glu639Ter) c.1960G>T (p.Glu654Ter) | |
17 | g.746095C= | CA2242474561 | GEMIN4 | c.1948G= (p.Glu650=) c.1915G= (p.Glu639=) c.1960G= (p.Glu654=) | |
17 | g.746095C>G | CA397506022 | GEMIN4 | c.1948G>C (p.Glu650Gln) c.1915G>C (p.Glu639Gln) c.1960G>C (p.Glu654Gln) | |
17 | g.746095C>T | CA8262515 | GEMIN4 | c.1948G>A (p.Glu650Lys) c.1915G>A (p.Glu639Lys) c.1960G>A (p.Glu654Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746096G>A | CA8262516 | GEMIN4 | c.1947C>T (p.Asp649=) c.1914C>T (p.Asp638=) c.1959C>T (p.Asp653=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.746096G>C | CA8262517 | GEMIN4 | c.1947C>G (p.Asp649Glu) c.1914C>G (p.Asp638Glu) c.1959C>G (p.Asp653Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.746096G= | CA2242474562 | GEMIN4 | c.1947C= (p.Asp649=) c.1914C= (p.Asp638=) c.1959C= (p.Asp653=) | |
17 | g.746096G>T | CA397506023 | GEMIN4 | c.1947C>A (p.Asp649Glu) c.1914C>A (p.Asp638Glu) c.1959C>A (p.Asp653Glu) | gnomAD v4 |
17 | g.746097T>A | CA397506026 | GEMIN4 | c.1946A>T (p.Asp649Val) c.1913A>T (p.Asp638Val) c.1958A>T (p.Asp653Val) | |
17 | g.746097T>C | CA397506024 | GEMIN4 | c.1946A>G (p.Asp649Gly) c.1913A>G (p.Asp638Gly) c.1958A>G (p.Asp653Gly) | |
17 | g.746097T>G | CA397506025 | GEMIN4 | c.1946A>C (p.Asp649Ala) c.1913A>C (p.Asp638Ala) c.1958A>C (p.Asp653Ala) | |
17 | g.746098C>A | CA397506027 | GEMIN4 | c.1945G>T (p.Asp649Tyr) c.1912G>T (p.Asp638Tyr) c.1957G>T (p.Asp653Tyr) | |
17 | g.746098C>G | CA397506028 | GEMIN4 | c.1945G>C (p.Asp649His) c.1912G>C (p.Asp638His) c.1957G>C (p.Asp653His) | |
17 | g.746098C>T | CA397506029 | GEMIN4 | c.1945G>A (p.Asp649Asn) c.1912G>A (p.Asp638Asn) c.1957G>A (p.Asp653Asn) | |
17 | g.746099T>A | CA497383771 | GEMIN4 | c.1944A>T (p.Pro648=) c.1911A>T (p.Pro637=) c.1956A>T (p.Pro652=) | |
17 | g.746099T>C | CA497383772 | GEMIN4 | c.1944A>G (p.Pro648=) c.1911A>G (p.Pro637=) c.1956A>G (p.Pro652=) | COSMIC COSMIC |
17 | g.746099T>G | CA497383773 | GEMIN4 | c.1944A>C (p.Pro648=) c.1911A>C (p.Pro637=) c.1956A>C (p.Pro652=) | |
17 | g.746100G>A | CA397506030 | GEMIN4 | c.1943C>T (p.Pro648Leu) c.1910C>T (p.Pro637Leu) c.1955C>T (p.Pro652Leu) | dbSNP gnomAD v4 |
17 | g.746100G>C | CA397506031 | GEMIN4 | c.1943C>G (p.Pro648Arg) c.1910C>G (p.Pro637Arg) c.1955C>G (p.Pro652Arg) | |
17 | g.746100G= | CA2242474563 | GEMIN4 | c.1943C= (p.Pro648=) c.1910C= (p.Pro637=) c.1955C= (p.Pro652=) | |
17 | g.746100G>T | CA397506032 | GEMIN4 | c.1943C>A (p.Pro648Gln) c.1910C>A (p.Pro637Gln) c.1955C>A (p.Pro652Gln) | |
17 | g.746101G>A | CA397506033 | GEMIN4 | c.1942C>T (p.Pro648Ser) c.1909C>T (p.Pro637Ser) c.1954C>T (p.Pro652Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746101G>C | CA397506034 | GEMIN4 | c.1942C>G (p.Pro648Ala) c.1909C>G (p.Pro637Ala) c.1954C>G (p.Pro652Ala) | |
17 | g.746101G= | CA2242474564 | GEMIN4 | c.1942C= (p.Pro648=) c.1909C= (p.Pro637=) c.1954C= (p.Pro652=) | |
17 | g.746101G>T | CA397506035 | GEMIN4 | c.1942C>A (p.Pro648Thr) c.1909C>A (p.Pro637Thr) c.1954C>A (p.Pro652Thr) | |
17 | g.746102C>A | CA397506036 | GEMIN4 | c.1941G>T (p.Glu647Asp) c.1908G>T (p.Glu636Asp) c.1953G>T (p.Glu651Asp) | |
17 | g.746102C= | CA2242474565 | GEMIN4 | c.1941G= (p.Glu647=) c.1908G= (p.Glu636=) c.1953G= (p.Glu651=) | |
17 | g.746102C>G | CA397506037 | GEMIN4 | c.1941G>C (p.Glu647Asp) c.1908G>C (p.Glu636Asp) c.1953G>C (p.Glu651Asp) | |
17 | g.746102C>T | CA497383775 | GEMIN4 | c.1941G>A (p.Glu647=) c.1908G>A (p.Glu636=) c.1953G>A (p.Glu651=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.746103T>A | CA397506039 | GEMIN4 | c.1940A>T (p.Glu647Val) c.1907A>T (p.Glu636Val) c.1952A>T (p.Glu651Val) | |
17 | g.746103T>C | CA8262518 | GEMIN4 | c.1940A>G (p.Glu647Gly) c.1907A>G (p.Glu636Gly) c.1952A>G (p.Glu651Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746103T>G | CA397506038 | GEMIN4 | c.1940A>C (p.Glu647Ala) c.1907A>C (p.Glu636Ala) c.1952A>C (p.Glu651Ala) | |
17 | g.746103T= | CA2242474566 | GEMIN4 | c.1940A= (p.Glu647=) c.1907A= (p.Glu636=) c.1952A= (p.Glu651=) | |
17 | g.746104C>A | CA397506040 | GEMIN4 | c.1939G>T (p.Glu647Ter) c.1906G>T (p.Glu636Ter) c.1951G>T (p.Glu651Ter) | dbSNP |
17 | g.746104C= | CA2242474568 | GEMIN4 | c.1939G= (p.Glu647=) c.1906G= (p.Glu636=) c.1951G= (p.Glu651=) | |
17 | g.746104C>G | CA397506041 | GEMIN4 | c.1939G>C (p.Glu647Gln) c.1906G>C (p.Glu636Gln) c.1951G>C (p.Glu651Gln) | COSMIC COSMIC |
17 | g.746104C>T | CA397506042 | GEMIN4 | c.1939G>A (p.Glu647Lys) c.1906G>A (p.Glu636Lys) c.1951G>A (p.Glu651Lys) | |
17 | g.746104_746107delinsCAAG | CA2242474567 | GEMIN4 | c.1936_1939delinsCTTG (p.Leu646=) c.1903_1906delinsCTTG (p.Leu635=) c.1948_1951delinsCTTG (p.Leu650=) | |
17 | g.746105A>C | CA497383779 | GEMIN4 | c.1938T>G (p.Leu646=) c.1905T>G (p.Leu635=) c.1950T>G (p.Leu650=) | gnomAD v4 |
17 | g.746105A>G | CA497383780 | GEMIN4 | c.1938T>C (p.Leu646=) c.1905T>C (p.Leu635=) c.1950T>C (p.Leu650=) | |
17 | g.746105A>T | CA497383781 | GEMIN4 | c.1938T>A (p.Leu646=) c.1905T>A (p.Leu635=) c.1950T>A (p.Leu650=) | |
17 | g.746109_746111del | CA8262519 | GEMIN4 | c.1936_1938del (p.Leu646del) c.1903_1905del (p.Leu635del) c.1948_1950del (p.Leu650del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.746106A>C | CA397506043 | GEMIN4 | c.1937T>G (p.Leu646Arg) c.1904T>G (p.Leu635Arg) c.1949T>G (p.Leu650Arg) | |
17 | g.746106A>G | CA397506044 | GEMIN4 | c.1937T>C (p.Leu646Pro) c.1904T>C (p.Leu635Pro) c.1949T>C (p.Leu650Pro) | |
17 | g.746106A>T | CA397506045 | GEMIN4 | c.1937T>A (p.Leu646His) c.1904T>A (p.Leu635His) c.1949T>A (p.Leu650His) | |
17 | g.746107G>A | CA397506046 | GEMIN4 | c.1936C>T (p.Leu646Phe) c.1903C>T (p.Leu635Phe) c.1948C>T (p.Leu650Phe) | gnomAD v4 |
17 | g.746107G>C | CA397506047 | GEMIN4 | c.1936C>G (p.Leu646Val) c.1903C>G (p.Leu635Val) c.1948C>G (p.Leu650Val) | |
17 | g.746107G>T | CA397506048 | GEMIN4 | c.1936C>A (p.Leu646Ile) c.1903C>A (p.Leu635Ile) c.1948C>A (p.Leu650Ile) |