Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.746015C>ACA397505845GEMIN4c.2028G>T (p.Gln676His)
c.1995G>T (p.Gln665His)
c.2040G>T (p.Gln680His)
17g.746015C=CA2242474530GEMIN4c.2028G= (p.Gln676=)
c.1995G= (p.Gln665=)
c.2040G= (p.Gln680=)
17g.746015C>GCA8262506GEMIN4c.2028G>C (p.Gln676His)
c.1995G>C (p.Gln665His)
c.2040G>C (p.Gln680His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746015C>TCA497383990GEMIN4c.2028G>A (p.Gln676=)
c.1995G>A (p.Gln665=)
c.2040G>A (p.Gln680=)
17g.746016T>ACA397505846GEMIN4c.2027A>T (p.Gln676Leu)
c.1994A>T (p.Gln665Leu)
c.2039A>T (p.Gln680Leu)
17g.746016T>CCA397505847GEMIN4c.2027A>G (p.Gln676Arg)
c.1994A>G (p.Gln665Arg)
c.2039A>G (p.Gln680Arg)
17g.746016T>GCA397505848GEMIN4c.2027A>C (p.Gln676Pro)
c.1994A>C (p.Gln665Pro)
c.2039A>C (p.Gln680Pro)
17g.746017G>ACA397505849GEMIN4c.2026C>T (p.Gln676Ter)
c.1993C>T (p.Gln665Ter)
c.2038C>T (p.Gln680Ter)
 dbSNP gnomAD v2 gnomAD v4
17g.746017G>CCA397505850GEMIN4c.2026C>G (p.Gln676Glu)
c.1993C>G (p.Gln665Glu)
c.2038C>G (p.Gln680Glu)
 gnomAD v4
17g.746017G=CA2242474531GEMIN4c.2026C= (p.Gln676=)
c.1993C= (p.Gln665=)
c.2038C= (p.Gln680=)
17g.746017G>TCA397505851GEMIN4c.2026C>A (p.Gln676Lys)
c.1993C>A (p.Gln665Lys)
c.2038C>A (p.Gln680Lys)
17g.746018G>ACA497383997GEMIN4c.2025C>T (p.Ile675=)
c.1992C>T (p.Ile664=)
c.2037C>T (p.Ile679=)
17g.746018G>CCA397505852GEMIN4c.2025C>G (p.Ile675Met)
c.1992C>G (p.Ile664Met)
c.2037C>G (p.Ile679Met)
17g.746018G>TCA497383998GEMIN4c.2025C>A (p.Ile675=)
c.1992C>A (p.Ile664=)
c.2037C>A (p.Ile679=)
17g.746019A=CA2242474532GEMIN4c.2024T= (p.Ile675=)
c.1991T= (p.Ile664=)
c.2036T= (p.Ile679=)
17g.746019A>CCA286713672GEMIN4c.2024T>G (p.Ile675Ser)
c.1991T>G (p.Ile664Ser)
c.2036T>G (p.Ile679Ser)
 dbSNP
17g.746019A>GCA397505853GEMIN4c.2024T>C (p.Ile675Thr)
c.1991T>C (p.Ile664Thr)
c.2036T>C (p.Ile679Thr)
 dbSNP
17g.746019A>TCA397505854GEMIN4c.2024T>A (p.Ile675Asn)
c.1991T>A (p.Ile664Asn)
c.2036T>A (p.Ile679Asn)
17g.746020T>ACA397505855GEMIN4c.2023A>T (p.Ile675Phe)
c.1990A>T (p.Ile664Phe)
c.2035A>T (p.Ile679Phe)
17g.746020T>CCA397505856GEMIN4c.2023A>G (p.Ile675Val)
c.1990A>G (p.Ile664Val)
c.2035A>G (p.Ile679Val)
 gnomAD v4
17g.746020T>GCA397505857GEMIN4c.2023A>C (p.Ile675Leu)
c.1990A>C (p.Ile664Leu)
c.2035A>C (p.Ile679Leu)
17g.746020_746021delinsTGCA2242474533GEMIN4c.2022_2023delinsCA (p.Phe674=)
c.1989_1990delinsCA (p.Phe663=)
c.2034_2035delinsCA (p.Phe678=)
17g.746021delCA8262507GEMIN4c.2022del (p.Phe674LeufsTer5)
c.1989del (p.Phe663LeufsTer5)
c.2034del (p.Phe678LeufsTer5)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746021G>ACA497384009GEMIN4c.2022C>T (p.Phe674=)
c.1989C>T (p.Phe663=)
c.2034C>T (p.Phe678=)
17g.746021G>CCA397505859GEMIN4c.2022C>G (p.Phe674Leu)
c.1989C>G (p.Phe663Leu)
c.2034C>G (p.Phe678Leu)
17g.746021G>TCA397505858GEMIN4c.2022C>A (p.Phe674Leu)
c.1989C>A (p.Phe663Leu)
c.2034C>A (p.Phe678Leu)
 COSMIC COSMIC
17g.746022A>CCA397505860GEMIN4c.2021T>G (p.Phe674Cys)
c.1988T>G (p.Phe663Cys)
c.2033T>G (p.Phe678Cys)
17g.746022A>GCA397505861GEMIN4c.2021T>C (p.Phe674Ser)
c.1988T>C (p.Phe663Ser)
c.2033T>C (p.Phe678Ser)
17g.746022A>TCA397505862GEMIN4c.2021T>A (p.Phe674Tyr)
c.1988T>A (p.Phe663Tyr)
c.2033T>A (p.Phe678Tyr)
 gnomAD v4
17g.746023A>CCA397505863GEMIN4c.2020T>G (p.Phe674Val)
c.1987T>G (p.Phe663Val)
c.2032T>G (p.Phe678Val)
17g.746023A>GCA397505864GEMIN4c.2020T>C (p.Phe674Leu)
c.1987T>C (p.Phe663Leu)
c.2032T>C (p.Phe678Leu)
17g.746023A>TCA397505865GEMIN4c.2020T>A (p.Phe674Ile)
c.1987T>A (p.Phe663Ile)
c.2032T>A (p.Phe678Ile)
17g.746024G>ACA497384018GEMIN4c.2019C>T (p.Ile673=)
c.1986C>T (p.Ile662=)
c.2031C>T (p.Ile677=)
17g.746024G>CCA397505866GEMIN4c.2019C>G (p.Ile673Met)
c.1986C>G (p.Ile662Met)
c.2031C>G (p.Ile677Met)
17g.746024G>TCA497384021GEMIN4c.2019C>A (p.Ile673=)
c.1986C>A (p.Ile662=)
c.2031C>A (p.Ile677=)
17g.746025A=CA2242474534GEMIN4c.2018T= (p.Ile673=)
c.1985T= (p.Ile662=)
c.2030T= (p.Ile677=)
17g.746025A>CCA397505867GEMIN4c.2018T>G (p.Ile673Ser)
c.1985T>G (p.Ile662Ser)
c.2030T>G (p.Ile677Ser)
 dbSNP gnomAD v3 gnomAD v4
17g.746025A>GCA397505868GEMIN4c.2018T>C (p.Ile673Thr)
c.1985T>C (p.Ile662Thr)
c.2030T>C (p.Ile677Thr)
 dbSNP
17g.746025A>TCA397505869GEMIN4c.2018T>A (p.Ile673Asn)
c.1985T>A (p.Ile662Asn)
c.2030T>A (p.Ile677Asn)
17g.746026T>ACA397505870GEMIN4c.2017A>T (p.Ile673Phe)
c.1984A>T (p.Ile662Phe)
c.2029A>T (p.Ile677Phe)
17g.746026T>CCA397505871GEMIN4c.2017A>G (p.Ile673Val)
c.1984A>G (p.Ile662Val)
c.2029A>G (p.Ile677Val)
17g.746026T>GCA397505872GEMIN4c.2017A>C (p.Ile673Leu)
c.1984A>C (p.Ile662Leu)
c.2029A>C (p.Ile677Leu)
17g.746027C>ACA397505873GEMIN4c.2016G>T (p.Arg672Ser)
c.1983G>T (p.Arg661Ser)
c.2028G>T (p.Arg676Ser)
17g.746027C=CA2242474535GEMIN4c.2016G= (p.Arg672=)
c.1983G= (p.Arg661=)
c.2028G= (p.Arg676=)
17g.746027C>GCA397505874GEMIN4c.2016G>C (p.Arg672Ser)
c.1983G>C (p.Arg661Ser)
c.2028G>C (p.Arg676Ser)
17g.746027C>TCA497384023GEMIN4c.2016G>A (p.Arg672=)
c.1983G>A (p.Arg661=)
c.2028G>A (p.Arg676=)
 dbSNP gnomAD v2 gnomAD v4
17g.746028C>ACA397505875GEMIN4c.2015G>T (p.Arg672Met)
c.1982G>T (p.Arg661Met)
c.2027G>T (p.Arg676Met)
17g.746028C>GCA397505877GEMIN4c.2015G>C (p.Arg672Thr)
c.1982G>C (p.Arg661Thr)
c.2027G>C (p.Arg676Thr)
17g.746028C>TCA397505876GEMIN4c.2015G>A (p.Arg672Lys)
c.1982G>A (p.Arg661Lys)
c.2027G>A (p.Arg676Lys)
17g.746029T>ACA286713673GEMIN4c.2014A>T (p.Arg672Trp)
c.1981A>T (p.Arg661Trp)
c.2026A>T (p.Arg676Trp)
 dbSNP
17g.746029T>CCA397505878GEMIN4c.2014A>G (p.Arg672Gly)
c.1981A>G (p.Arg661Gly)
c.2026A>G (p.Arg676Gly)
17g.746029T>GCA497384031GEMIN4c.2014A>C (p.Arg672=)
c.1981A>C (p.Arg661=)
c.2026A>C (p.Arg676=)
 dbSNP gnomAD v2 gnomAD v4
17g.746029T=CA2242474536GEMIN4c.2014A= (p.Arg672=)
c.1981A= (p.Arg661=)
c.2026A= (p.Arg676=)
17g.746030C>ACA497384033GEMIN4c.2013G>T (p.Leu671=)
c.1980G>T (p.Leu660=)
c.2025G>T (p.Leu675=)
17g.746030C>GCA497384035GEMIN4c.2013G>C (p.Leu671=)
c.1980G>C (p.Leu660=)
c.2025G>C (p.Leu675=)
17g.746030C>TCA497384037GEMIN4c.2013G>A (p.Leu671=)
c.1980G>A (p.Leu660=)
c.2025G>A (p.Leu675=)
17g.746031A=CA2242474537GEMIN4c.2012T= (p.Leu671=)
c.1979T= (p.Leu660=)
c.2024T= (p.Leu675=)
17g.746031A>CCA397505879GEMIN4c.2012T>G (p.Leu671Arg)
c.1979T>G (p.Leu660Arg)
c.2024T>G (p.Leu675Arg)
17g.746031A>GCA397505881GEMIN4c.2012T>C (p.Leu671Pro)
c.1979T>C (p.Leu660Pro)
c.2024T>C (p.Leu675Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.746031A>TCA397505880GEMIN4c.2012T>A (p.Leu671Gln)
c.1979T>A (p.Leu660Gln)
c.2024T>A (p.Leu675Gln)
17g.746032G>ACA8262508GEMIN4c.2011C>T (p.Leu671=)
c.1978C>T (p.Leu660=)
c.2023C>T (p.Leu675=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746032G>CCA397505882GEMIN4c.2011C>G (p.Leu671Val)
c.1978C>G (p.Leu660Val)
c.2023C>G (p.Leu675Val)
 dbSNP gnomAD v4 COSMIC COSMIC
17g.746032G=CA2242474538GEMIN4c.2011C= (p.Leu671=)
c.1978C= (p.Leu660=)
c.2023C= (p.Leu675=)
17g.746032G>TCA397505883GEMIN4c.2011C>A (p.Leu671Met)
c.1978C>A (p.Leu660Met)
c.2023C>A (p.Leu675Met)
 gnomAD v4
17g.746033A>CCA397505884GEMIN4c.2010T>G (p.Ser670Arg)
c.1977T>G (p.Ser659Arg)
c.2022T>G (p.Ser674Arg)
17g.746033A>GCA497384048GEMIN4c.2010T>C (p.Ser670=)
c.1977T>C (p.Ser659=)
c.2022T>C (p.Ser674=)
17g.746033A>TCA397505885GEMIN4c.2010T>A (p.Ser670Arg)
c.1977T>A (p.Ser659Arg)
c.2022T>A (p.Ser674Arg)
17g.746034C>ACA397505886GEMIN4c.2009G>T (p.Ser670Ile)
c.1976G>T (p.Ser659Ile)
c.2021G>T (p.Ser674Ile)
17g.746034C>GCA397505887GEMIN4c.2009G>C (p.Ser670Thr)
c.1976G>C (p.Ser659Thr)
c.2021G>C (p.Ser674Thr)
17g.746034C>TCA397505888GEMIN4c.2009G>A (p.Ser670Asn)
c.1976G>A (p.Ser659Asn)
c.2021G>A (p.Ser674Asn)
 gnomAD v4
17g.746035T>ACA397505889GEMIN4c.2008A>T (p.Ser670Cys)
c.1975A>T (p.Ser659Cys)
c.2020A>T (p.Ser674Cys)
17g.746035T>CCA397505890GEMIN4c.2008A>G (p.Ser670Gly)
c.1975A>G (p.Ser659Gly)
c.2020A>G (p.Ser674Gly)
 gnomAD v4
17g.746035T>GCA397505891GEMIN4c.2008A>C (p.Ser670Arg)
c.1975A>C (p.Ser659Arg)
c.2020A>C (p.Ser674Arg)
17g.746036G>ACA497384053GEMIN4c.2007C>T (p.Leu669=)
c.1974C>T (p.Leu658=)
c.2019C>T (p.Leu673=)
17g.746036G>CCA497384055GEMIN4c.2007C>G (p.Leu669=)
c.1974C>G (p.Leu658=)
c.2019C>G (p.Leu673=)
17g.746036G>TCA497384054GEMIN4c.2007C>A (p.Leu669=)
c.1974C>A (p.Leu658=)
c.2019C>A (p.Leu673=)
17g.746037A>CCA397505894GEMIN4c.2006T>G (p.Leu669Arg)
c.1973T>G (p.Leu658Arg)
c.2018T>G (p.Leu673Arg)
 gnomAD v4
17g.746037A>GCA397505893GEMIN4c.2006T>C (p.Leu669Pro)
c.1973T>C (p.Leu658Pro)
c.2018T>C (p.Leu673Pro)
17g.746037A>TCA397505892GEMIN4c.2006T>A (p.Leu669His)
c.1973T>A (p.Leu658His)
c.2018T>A (p.Leu673His)
17g.746038G>ACA8262509GEMIN4c.2005C>T (p.Leu669Phe)
c.1972C>T (p.Leu658Phe)
c.2017C>T (p.Leu673Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.746038G>CCA397505895GEMIN4c.2005C>G (p.Leu669Val)
c.1972C>G (p.Leu658Val)
c.2017C>G (p.Leu673Val)
17g.746038G=CA2242474539GEMIN4c.2005C= (p.Leu669=)
c.1972C= (p.Leu658=)
c.2017C= (p.Leu673=)
17g.746038G>TCA397505896GEMIN4c.2005C>A (p.Leu669Ile)
c.1972C>A (p.Leu658Ile)
c.2017C>A (p.Leu673Ile)
17g.746039G>ACA497384062GEMIN4c.2004C>T (p.Asp668=)
c.1971C>T (p.Asp657=)
c.2016C>T (p.Asp672=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.746039G>CCA397505897GEMIN4c.2004C>G (p.Asp668Glu)
c.1971C>G (p.Asp657Glu)
c.2016C>G (p.Asp672Glu)
17g.746039G=CA2242474540GEMIN4c.2004C= (p.Asp668=)
c.1971C= (p.Asp657=)
c.2016C= (p.Asp672=)
17g.746039G>TCA397505898GEMIN4c.2004C>A (p.Asp668Glu)
c.1971C>A (p.Asp657Glu)
c.2016C>A (p.Asp672Glu)
 dbSNP gnomAD v4
17g.746040T>ACA397505899GEMIN4c.2003A>T (p.Asp668Val)
c.1970A>T (p.Asp657Val)
c.2015A>T (p.Asp672Val)
17g.746040T>CCA397505900GEMIN4c.2003A>G (p.Asp668Gly)
c.1970A>G (p.Asp657Gly)
c.2015A>G (p.Asp672Gly)
17g.746040T>GCA397505901GEMIN4c.2003A>C (p.Asp668Ala)
c.1970A>C (p.Asp657Ala)
c.2015A>C (p.Asp672Ala)
17g.746041C>ACA397505902GEMIN4c.2002G>T (p.Asp668Tyr)
c.1969G>T (p.Asp657Tyr)
c.2014G>T (p.Asp672Tyr)
17g.746041C=CA2242474541GEMIN4c.2002G= (p.Asp668=)
c.1969G= (p.Asp657=)
c.2014G= (p.Asp672=)
17g.746041C>GCA397505903GEMIN4c.2002G>C (p.Asp668His)
c.1969G>C (p.Asp657His)
c.2014G>C (p.Asp672His)
 dbSNP gnomAD v3 gnomAD v4
17g.746041C>TCA397505904GEMIN4c.2002G>A (p.Asp668Asn)
c.1969G>A (p.Asp657Asn)
c.2014G>A (p.Asp672Asn)
 COSMIC
17g.746042T>ACA497384073GEMIN4c.2001A>T (p.Val667=)
c.1968A>T (p.Val656=)
c.2013A>T (p.Val671=)
17g.746042T>CCA497384075GEMIN4c.2001A>G (p.Val667=)
c.1968A>G (p.Val656=)
c.2013A>G (p.Val671=)
17g.746042T>GCA497384074GEMIN4c.2001A>C (p.Val667=)
c.1968A>C (p.Val656=)
c.2013A>C (p.Val671=)
17g.746043A>CCA397505907GEMIN4c.2000T>G (p.Val667Gly)
c.1967T>G (p.Val656Gly)
c.2012T>G (p.Val671Gly)
17g.746043A>GCA397505906GEMIN4c.2000T>C (p.Val667Ala)
c.1967T>C (p.Val656Ala)
c.2012T>C (p.Val671Ala)
17g.746043A>TCA397505905GEMIN4c.2000T>A (p.Val667Glu)
c.1967T>A (p.Val656Glu)
c.2012T>A (p.Val671Glu)
17g.746044C>ACA397505908GEMIN4c.1999G>T (p.Val667Leu)
c.1966G>T (p.Val656Leu)
c.2011G>T (p.Val671Leu)
17g.746044C>GCA397505909GEMIN4c.1999G>C (p.Val667Leu)
c.1966G>C (p.Val656Leu)
c.2011G>C (p.Val671Leu)
17g.746044C>TCA397505910GEMIN4c.1999G>A (p.Val667Ile)
c.1966G>A (p.Val656Ile)
c.2011G>A (p.Val671Ile)
 gnomAD v4
17g.746045C>ACA397505911GEMIN4c.1998G>T (p.Glu666Asp)
c.1965G>T (p.Glu655Asp)
c.2010G>T (p.Glu670Asp)
17g.746045C>GCA397505912GEMIN4c.1998G>C (p.Glu666Asp)
c.1965G>C (p.Glu655Asp)
c.2010G>C (p.Glu670Asp)
 gnomAD v4
17g.746045C>TCA497384080GEMIN4c.1998G>A (p.Glu666=)
c.1965G>A (p.Glu655=)
c.2010G>A (p.Glu670=)
 gnomAD v4
17g.746045_746048delinsCTCTCA2242474542GEMIN4c.1995_1998delinsAGAG (p.Glu665=)
c.1962_1965delinsAGAG (p.Glu654=)
c.2007_2010delinsAGAG (p.Glu669=)
17g.746046T>ACA397505913GEMIN4c.1997A>T (p.Glu666Val)
c.1964A>T (p.Glu655Val)
c.2009A>T (p.Glu670Val)
17g.746046T>CCA397505914GEMIN4c.1997A>G (p.Glu666Gly)
c.1964A>G (p.Glu655Gly)
c.2009A>G (p.Glu670Gly)
 dbSNP gnomAD v3 gnomAD v4
17g.746046T>GCA397505915GEMIN4c.1997A>C (p.Glu666Ala)
c.1964A>C (p.Glu655Ala)
c.2009A>C (p.Glu670Ala)
17g.746046T=CA2242474544GEMIN4c.1997A= (p.Glu666=)
c.1964A= (p.Glu655=)
c.2009A= (p.Glu670=)
17g.746048_746050delCA2242474543GEMIN4c.1995_1997del (p.Glu666del)
c.1962_1964del (p.Glu655del)
c.2007_2009del (p.Glu670del)
 dbSNP
17g.746047C>ACA397505916GEMIN4c.1996G>T (p.Glu666Ter)
c.1963G>T (p.Glu655Ter)
c.2008G>T (p.Glu670Ter)
17g.746047C=CA2242474545GEMIN4c.1996G= (p.Glu666=)
c.1963G= (p.Glu655=)
c.2008G= (p.Glu670=)
17g.746047C>GCA397505917GEMIN4c.1996G>C (p.Glu666Gln)
c.1963G>C (p.Glu655Gln)
c.2008G>C (p.Glu670Gln)
 COSMIC COSMIC
17g.746047C>TCA397505918GEMIN4c.1996G>A (p.Glu666Lys)
c.1963G>A (p.Glu655Lys)
c.2008G>A (p.Glu670Lys)
 dbSNP
17g.746048T>ACA397505919GEMIN4c.1995A>T (p.Glu665Asp)
c.1962A>T (p.Glu654Asp)
c.2007A>T (p.Glu669Asp)
17g.746048T>CCA497384088GEMIN4c.1995A>G (p.Glu665=)
c.1962A>G (p.Glu654=)
c.2007A>G (p.Glu669=)
17g.746048T>GCA397505920GEMIN4c.1995A>C (p.Glu665Asp)
c.1962A>C (p.Glu654Asp)
c.2007A>C (p.Glu669Asp)
 dbSNP
17g.746048T=CA2242474546GEMIN4c.1995A= (p.Glu665=)
c.1962A= (p.Glu654=)
c.2007A= (p.Glu669=)
17g.746049T>ACA397505923GEMIN4c.1994A>T (p.Glu665Val)
c.1961A>T (p.Glu654Val)
c.2006A>T (p.Glu669Val)
17g.746049T>CCA397505921GEMIN4c.1994A>G (p.Glu665Gly)
c.1961A>G (p.Glu654Gly)
c.2006A>G (p.Glu669Gly)
17g.746049T>GCA397505922GEMIN4c.1994A>C (p.Glu665Ala)
c.1961A>C (p.Glu654Ala)
c.2006A>C (p.Glu669Ala)
17g.746050C>ACA397505924GEMIN4c.1993G>T (p.Glu665Ter)
c.1960G>T (p.Glu654Ter)
c.2005G>T (p.Glu669Ter)
17g.746050C>GCA397505925GEMIN4c.1993G>C (p.Glu665Gln)
c.1960G>C (p.Glu654Gln)
c.2005G>C (p.Glu669Gln)
17g.746050C>TCA397505926GEMIN4c.1993G>A (p.Glu665Lys)
c.1960G>A (p.Glu654Lys)
c.2005G>A (p.Glu669Lys)
 dbSNP
17g.746051A>CCA497384092GEMIN4c.1992T>G (p.Val664=)
c.1959T>G (p.Val653=)
c.2004T>G (p.Val668=)
 gnomAD v4
17g.746051A>GCA497384093GEMIN4c.1992T>C (p.Val664=)
c.1959T>C (p.Val653=)
c.2004T>C (p.Val668=)
17g.746051A>TCA497384094GEMIN4c.1992T>A (p.Val664=)
c.1959T>A (p.Val653=)
c.2004T>A (p.Val668=)
17g.746052A>CCA397505927GEMIN4c.1991T>G (p.Val664Gly)
c.1958T>G (p.Val653Gly)
c.2003T>G (p.Val668Gly)
17g.746052A>GCA397505928GEMIN4c.1991T>C (p.Val664Ala)
c.1958T>C (p.Val653Ala)
c.2003T>C (p.Val668Ala)
17g.746052A>TCA397505929GEMIN4c.1991T>A (p.Val664Asp)
c.1958T>A (p.Val653Asp)
c.2003T>A (p.Val668Asp)
17g.746053delCA2635153309GEMIN4c.1990del (p.Val664LeufsTer4)
c.1957del (p.Val653LeufsTer4)
c.2002del (p.Val668LeufsTer4)
 gnomAD v4
17g.746053C>ACA397505930GEMIN4c.1990G>T (p.Val664Phe)
c.1957G>T (p.Val653Phe)
c.2002G>T (p.Val668Phe)
17g.746053C>GCA397505931GEMIN4c.1990G>C (p.Val664Leu)
c.1957G>C (p.Val653Leu)
c.2002G>C (p.Val668Leu)
17g.746053C>TCA397505932GEMIN4c.1990G>A (p.Val664Ile)
c.1957G>A (p.Val653Ile)
c.2002G>A (p.Val668Ile)
17g.746054A=CA2242474547GEMIN4c.1989T= (p.Asp663=)
c.1956T= (p.Asp652=)
c.2001T= (p.Asp667=)
17g.746054A>CCA397505933GEMIN4c.1989T>G (p.Asp663Glu)
c.1956T>G (p.Asp652Glu)
c.2001T>G (p.Asp667Glu)
17g.746054A>GCA497384097GEMIN4c.1989T>C (p.Asp663=)
c.1956T>C (p.Asp652=)
c.2001T>C (p.Asp667=)
17g.746054A>TCA397505934GEMIN4c.1989T>A (p.Asp663Glu)
c.1956T>A (p.Asp652Glu)
c.2001T>A (p.Asp667Glu)
 dbSNP
17g.746055T>ACA397505936GEMIN4c.1988A>T (p.Asp663Val)
c.1955A>T (p.Asp652Val)
c.2000A>T (p.Asp667Val)
17g.746055T>CCA397505935GEMIN4c.1988A>G (p.Asp663Gly)
c.1955A>G (p.Asp652Gly)
c.2000A>G (p.Asp667Gly)
17g.746055T>GCA8262510GEMIN4c.1988A>C (p.Asp663Ala)
c.1955A>C (p.Asp652Ala)
c.2000A>C (p.Asp667Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746055T=CA2242474548GEMIN4c.1988A= (p.Asp663=)
c.1955A= (p.Asp652=)
c.2000A= (p.Asp667=)
17g.746056C>ACA397505937GEMIN4c.1987G>T (p.Asp663Tyr)
c.1954G>T (p.Asp652Tyr)
c.1999G>T (p.Asp667Tyr)
17g.746056C>GCA397505939GEMIN4c.1987G>C (p.Asp663His)
c.1954G>C (p.Asp652His)
c.1999G>C (p.Asp667His)
17g.746056C>TCA397505938GEMIN4c.1987G>A (p.Asp663Asn)
c.1954G>A (p.Asp652Asn)
c.1999G>A (p.Asp667Asn)
17g.746057T>ACA397505940GEMIN4c.1986A>T (p.Leu662Phe)
c.1953A>T (p.Leu651Phe)
c.1998A>T (p.Leu666Phe)
17g.746057T>CCA497384108GEMIN4c.1986A>G (p.Leu662=)
c.1953A>G (p.Leu651=)
c.1998A>G (p.Leu666=)
17g.746057T>GCA397505941GEMIN4c.1986A>C (p.Leu662Phe)
c.1953A>C (p.Leu651Phe)
c.1998A>C (p.Leu666Phe)
17g.746058A>CCA397505942GEMIN4c.1985T>G (p.Leu662Ter)
c.1952T>G (p.Leu651Ter)
c.1997T>G (p.Leu666Ter)
17g.746058A>GCA397505943GEMIN4c.1985T>C (p.Leu662Ser)
c.1952T>C (p.Leu651Ser)
c.1997T>C (p.Leu666Ser)
17g.746058A>TCA397505944GEMIN4c.1985T>A (p.Leu662Ter)
c.1952T>A (p.Leu651Ter)
c.1997T>A (p.Leu666Ter)
17g.746059A>CCA397505945GEMIN4c.1984T>G (p.Leu662Val)
c.1951T>G (p.Leu651Val)
c.1996T>G (p.Leu666Val)
17g.746059A>GCA497384120GEMIN4c.1984T>C (p.Leu662=)
c.1951T>C (p.Leu651=)
c.1996T>C (p.Leu666=)
 COSMIC
17g.746059A>TCA397505946GEMIN4c.1984T>A (p.Leu662Ile)
c.1951T>A (p.Leu651Ile)
c.1996T>A (p.Leu666Ile)
17g.746060C>ACA397505947GEMIN4c.1983G>T (p.Arg661Ser)
c.1950G>T (p.Arg650Ser)
c.1995G>T (p.Arg665Ser)
17g.746060C>GCA397505948GEMIN4c.1983G>C (p.Arg661Ser)
c.1950G>C (p.Arg650Ser)
c.1995G>C (p.Arg665Ser)
17g.746060C>TCA497384124GEMIN4c.1983G>A (p.Arg661=)
c.1950G>A (p.Arg650=)
c.1995G>A (p.Arg665=)
17g.746061C>ACA397505949GEMIN4c.1982G>T (p.Arg661Met)
c.1949G>T (p.Arg650Met)
c.1994G>T (p.Arg665Met)
17g.746061C=CA2242474549GEMIN4c.1982G= (p.Arg661=)
c.1949G= (p.Arg650=)
c.1994G= (p.Arg665=)
17g.746061C>GCA397505950GEMIN4c.1982G>C (p.Arg661Thr)
c.1949G>C (p.Arg650Thr)
c.1994G>C (p.Arg665Thr)
17g.746061C>TCA8262511GEMIN4c.1982G>A (p.Arg661Lys)
c.1949G>A (p.Arg650Lys)
c.1994G>A (p.Arg665Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746062T>ACA8262512GEMIN4c.1981A>T (p.Arg661Trp)
c.1948A>T (p.Arg650Trp)
c.1993A>T (p.Arg665Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746062T>CCA397505951GEMIN4c.1981A>G (p.Arg661Gly)
c.1948A>G (p.Arg650Gly)
c.1993A>G (p.Arg665Gly)
17g.746062T>GCA497384130GEMIN4c.1981A>C (p.Arg661=)
c.1948A>C (p.Arg650=)
c.1993A>C (p.Arg665=)
17g.746062T=CA2242474550GEMIN4c.1981A= (p.Arg661=)
c.1948A= (p.Arg650=)
c.1993A= (p.Arg665=)
17g.746063C>ACA397505952GEMIN4c.1980G>T (p.Leu660Phe)
c.1947G>T (p.Leu649Phe)
c.1992G>T (p.Leu664Phe)
17g.746063C>GCA397505953GEMIN4c.1980G>C (p.Leu660Phe)
c.1947G>C (p.Leu649Phe)
c.1992G>C (p.Leu664Phe)
17g.746063C>TCA497384131GEMIN4c.1980G>A (p.Leu660=)
c.1947G>A (p.Leu649=)
c.1992G>A (p.Leu664=)
17g.746064A>CCA397505954GEMIN4c.1979T>G (p.Leu660Trp)
c.1946T>G (p.Leu649Trp)
c.1991T>G (p.Leu664Trp)
 gnomAD v4 COSMIC COSMIC
17g.746064A>GCA397505955GEMIN4c.1979T>C (p.Leu660Ser)
c.1946T>C (p.Leu649Ser)
c.1991T>C (p.Leu664Ser)
17g.746064A>TCA397505956GEMIN4c.1979T>A (p.Leu660Ter)
c.1946T>A (p.Leu649Ter)
c.1991T>A (p.Leu664Ter)
17g.746065A>CCA397505957GEMIN4c.1978T>G (p.Leu660Val)
c.1945T>G (p.Leu649Val)
c.1990T>G (p.Leu664Val)
17g.746065A>GCA497384136GEMIN4c.1978T>C (p.Leu660=)
c.1945T>C (p.Leu649=)
c.1990T>C (p.Leu664=)
17g.746065A>TCA397505958GEMIN4c.1978T>A (p.Leu660Met)
c.1945T>A (p.Leu649Met)
c.1990T>A (p.Leu664Met)
17g.746066G>ACA497384137GEMIN4c.1977C>T (p.Phe659=)
c.1944C>T (p.Phe648=)
c.1989C>T (p.Phe663=)
17g.746066G>CCA397505959GEMIN4c.1977C>G (p.Phe659Leu)
c.1944C>G (p.Phe648Leu)
c.1989C>G (p.Phe663Leu)
17g.746066G>TCA397505960GEMIN4c.1977C>A (p.Phe659Leu)
c.1944C>A (p.Phe648Leu)
c.1989C>A (p.Phe663Leu)
17g.746066_746067delinsGACA2242474551GEMIN4c.1976_1977delinsTC (p.Phe659=)
c.1943_1944delinsTC (p.Phe648=)
c.1988_1989delinsTC (p.Phe663=)
17g.746067A>CCA397505961GEMIN4c.1976T>G (p.Phe659Cys)
c.1943T>G (p.Phe648Cys)
c.1988T>G (p.Phe663Cys)
17g.746067A>GCA397505962GEMIN4c.1976T>C (p.Phe659Ser)
c.1943T>C (p.Phe648Ser)
c.1988T>C (p.Phe663Ser)
17g.746067A>TCA397505963GEMIN4c.1976T>A (p.Phe659Tyr)
c.1943T>A (p.Phe648Tyr)
c.1988T>A (p.Phe663Tyr)
17g.746069delCA774955596GEMIN4c.1976del (p.Phe659SerfsTer2)
c.1943del (p.Phe648SerfsTer2)
c.1988del (p.Phe663SerfsTer2)
 dbSNP
17g.746068A>CCA397505964GEMIN4c.1975T>G (p.Phe659Val)
c.1942T>G (p.Phe648Val)
c.1987T>G (p.Phe663Val)
 gnomAD v4
17g.746068A>GCA397505966GEMIN4c.1975T>C (p.Phe659Leu)
c.1942T>C (p.Phe648Leu)
c.1987T>C (p.Phe663Leu)
17g.746068A>TCA397505965GEMIN4c.1975T>A (p.Phe659Ile)
c.1942T>A (p.Phe648Ile)
c.1987T>A (p.Phe663Ile)
17g.746069A>CCA497384142GEMIN4c.1974T>G (p.Pro658=)
c.1941T>G (p.Pro647=)
c.1986T>G (p.Pro662=)
17g.746069A>GCA497384143GEMIN4c.1974T>C (p.Pro658=)
c.1941T>C (p.Pro647=)
c.1986T>C (p.Pro662=)
17g.746069A>TCA497384144GEMIN4c.1974T>A (p.Pro658=)
c.1941T>A (p.Pro647=)
c.1986T>A (p.Pro662=)
17g.746070G>ACA286713674GEMIN4c.1973C>T (p.Pro658Leu)
c.1940C>T (p.Pro647Leu)
c.1985C>T (p.Pro662Leu)
 dbSNP gnomAD v3 gnomAD v4
17g.746070G>CCA397505967GEMIN4c.1973C>G (p.Pro658Arg)
c.1940C>G (p.Pro647Arg)
c.1985C>G (p.Pro662Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.746070G=CA2242474552GEMIN4c.1973C= (p.Pro658=)
c.1940C= (p.Pro647=)
c.1985C= (p.Pro662=)
17g.746070G>TCA397505968GEMIN4c.1973C>A (p.Pro658His)
c.1940C>A (p.Pro647His)
c.1985C>A (p.Pro662His)
17g.746071G>ACA397505969GEMIN4c.1972C>T (p.Pro658Ser)
c.1939C>T (p.Pro647Ser)
c.1984C>T (p.Pro662Ser)
17g.746071G>CCA397505970GEMIN4c.1972C>G (p.Pro658Ala)
c.1939C>G (p.Pro647Ala)
c.1984C>G (p.Pro662Ala)
 gnomAD v4
17g.746071G>TCA397505971GEMIN4c.1972C>A (p.Pro658Thr)
c.1939C>A (p.Pro647Thr)
c.1984C>A (p.Pro662Thr)
17g.746072C>ACA497384147GEMIN4c.1971G>T (p.Leu657=)
c.1938G>T (p.Leu646=)
c.1983G>T (p.Leu661=)
17g.746072C>GCA497384149GEMIN4c.1971G>C (p.Leu657=)
c.1938G>C (p.Leu646=)
c.1983G>C (p.Leu661=)
17g.746072C>TCA497384152GEMIN4c.1971G>A (p.Leu657=)
c.1938G>A (p.Leu646=)
c.1983G>A (p.Leu661=)
17g.746073A=CA2242474553GEMIN4c.1970T= (p.Leu657=)
c.1937T= (p.Leu646=)
c.1982T= (p.Leu661=)
17g.746073A>CCA397505972GEMIN4c.1970T>G (p.Leu657Arg)
c.1937T>G (p.Leu646Arg)
c.1982T>G (p.Leu661Arg)
17g.746073A>GCA397505973GEMIN4c.1970T>C (p.Leu657Pro)
c.1937T>C (p.Leu646Pro)
c.1982T>C (p.Leu661Pro)
 dbSNP
17g.746073A>TCA397505974GEMIN4c.1970T>A (p.Leu657Gln)
c.1937T>A (p.Leu646Gln)
c.1982T>A (p.Leu661Gln)
17g.746074G>ACA497384155GEMIN4c.1969C>T (p.Leu657=)
c.1936C>T (p.Leu646=)
c.1981C>T (p.Leu661=)
 dbSNP gnomAD v2 gnomAD v4
17g.746074G>CCA397505975GEMIN4c.1969C>G (p.Leu657Val)
c.1936C>G (p.Leu646Val)
c.1981C>G (p.Leu661Val)
17g.746074G=CA2242474554GEMIN4c.1969C= (p.Leu657=)
c.1936C= (p.Leu646=)
c.1981C= (p.Leu661=)
17g.746074G>TCA397505976GEMIN4c.1969C>A (p.Leu657Met)
c.1936C>A (p.Leu646Met)
c.1981C>A (p.Leu661Met)
17g.746075G>ACA497384157GEMIN4c.1968C>T (p.Val656=)
c.1935C>T (p.Val645=)
c.1980C>T (p.Val660=)
17g.746075G>CCA497384159GEMIN4c.1968C>G (p.Val656=)
c.1935C>G (p.Val645=)
c.1980C>G (p.Val660=)
17g.746075G>TCA497384162GEMIN4c.1968C>A (p.Val656=)
c.1935C>A (p.Val645=)
c.1980C>A (p.Val660=)
17g.746076A>CCA397505979GEMIN4c.1967T>G (p.Val656Gly)
c.1934T>G (p.Val645Gly)
c.1979T>G (p.Val660Gly)
17g.746076A>GCA397505978GEMIN4c.1967T>C (p.Val656Ala)
c.1934T>C (p.Val645Ala)
c.1979T>C (p.Val660Ala)
17g.746076A>TCA397505977GEMIN4c.1967T>A (p.Val656Asp)
c.1934T>A (p.Val645Asp)
c.1979T>A (p.Val660Asp)
17g.746077C>ACA8262513GEMIN4c.1966G>T (p.Val656Phe)
c.1933G>T (p.Val645Phe)
c.1978G>T (p.Val660Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746077C=CA2242474555GEMIN4c.1966G= (p.Val656=)
c.1933G= (p.Val645=)
c.1978G= (p.Val660=)
17g.746077C>GCA397505980GEMIN4c.1966G>C (p.Val656Leu)
c.1933G>C (p.Val645Leu)
c.1978G>C (p.Val660Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.746077C>TCA397505981GEMIN4c.1966G>A (p.Val656Ile)
c.1933G>A (p.Val645Ile)
c.1978G>A (p.Val660Ile)
 gnomAD v4
17g.746078A>CCA397505982GEMIN4c.1965T>G (p.Phe655Leu)
c.1932T>G (p.Phe644Leu)
c.1977T>G (p.Phe659Leu)
17g.746078A>GCA497383739GEMIN4c.1965T>C (p.Phe655=)
c.1932T>C (p.Phe644=)
c.1977T>C (p.Phe659=)
17g.746078A>TCA397505983GEMIN4c.1965T>A (p.Phe655Leu)
c.1932T>A (p.Phe644Leu)
c.1977T>A (p.Phe659Leu)
17g.746079A=CA2242474556GEMIN4c.1964T= (p.Phe655=)
c.1931T= (p.Phe644=)
c.1976T= (p.Phe659=)
17g.746079A>CCA8262514GEMIN4c.1964T>G (p.Phe655Cys)
c.1931T>G (p.Phe644Cys)
c.1976T>G (p.Phe659Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746079A>GCA397505984GEMIN4c.1964T>C (p.Phe655Ser)
c.1931T>C (p.Phe644Ser)
c.1976T>C (p.Phe659Ser)
17g.746079A>TCA397505985GEMIN4c.1964T>A (p.Phe655Tyr)
c.1931T>A (p.Phe644Tyr)
c.1976T>A (p.Phe659Tyr)
17g.746080A>CCA397505986GEMIN4c.1963T>G (p.Phe655Val)
c.1930T>G (p.Phe644Val)
c.1975T>G (p.Phe659Val)
 gnomAD v4
17g.746080A>GCA397505987GEMIN4c.1963T>C (p.Phe655Leu)
c.1930T>C (p.Phe644Leu)
c.1975T>C (p.Phe659Leu)
17g.746080A>TCA397505988GEMIN4c.1963T>A (p.Phe655Ile)
c.1930T>A (p.Phe644Ile)
c.1975T>A (p.Phe659Ile)
17g.746081T>ACA397505989GEMIN4c.1962A>T (p.Glu654Asp)
c.1929A>T (p.Glu643Asp)
c.1974A>T (p.Glu658Asp)
17g.746081T>CCA497383742GEMIN4c.1962A>G (p.Glu654=)
c.1929A>G (p.Glu643=)
c.1974A>G (p.Glu658=)
17g.746081T>GCA397505990GEMIN4c.1962A>C (p.Glu654Asp)
c.1929A>C (p.Glu643Asp)
c.1974A>C (p.Glu658Asp)
17g.746084_746087dupCA2635153312GEMIN4c.1959_1962dup (p.Phe655GlyfsTer12)
c.1926_1929dup (p.Phe644GlyfsTer12)
c.1971_1974dup (p.Phe659GlyfsTer12)
 gnomAD v4
17g.746082T>ACA397505993GEMIN4c.1961A>T (p.Glu654Val)
c.1928A>T (p.Glu643Val)
c.1973A>T (p.Glu658Val)
17g.746082T>CCA397505992GEMIN4c.1961A>G (p.Glu654Gly)
c.1928A>G (p.Glu643Gly)
c.1973A>G (p.Glu658Gly)
17g.746082T>GCA397505991GEMIN4c.1961A>C (p.Glu654Ala)
c.1928A>C (p.Glu643Ala)
c.1973A>C (p.Glu658Ala)
17g.746083C>ACA397505995GEMIN4c.1960G>T (p.Glu654Ter)
c.1927G>T (p.Glu643Ter)
c.1972G>T (p.Glu658Ter)
17g.746083C>GCA397505994GEMIN4c.1960G>C (p.Glu654Gln)
c.1927G>C (p.Glu643Gln)
c.1972G>C (p.Glu658Gln)
17g.746083C>TCA397505996GEMIN4c.1960G>A (p.Glu654Lys)
c.1927G>A (p.Glu643Lys)
c.1972G>A (p.Glu658Lys)
 gnomAD v4
17g.746084C>ACA397505997GEMIN4c.1959G>T (p.Lys653Asn)
c.1926G>T (p.Lys642Asn)
c.1971G>T (p.Lys657Asn)
17g.746084C=CA2242474557GEMIN4c.1959G= (p.Lys653=)
c.1926G= (p.Lys642=)
c.1971G= (p.Lys657=)
17g.746084C>GCA397505998GEMIN4c.1959G>C (p.Lys653Asn)
c.1926G>C (p.Lys642Asn)
c.1971G>C (p.Lys657Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.746084C>TCA497383746GEMIN4c.1959G>A (p.Lys653=)
c.1926G>A (p.Lys642=)
c.1971G>A (p.Lys657=)
 dbSNP gnomAD v4
17g.746085T>ACA397505999GEMIN4c.1958A>T (p.Lys653Met)
c.1925A>T (p.Lys642Met)
c.1970A>T (p.Lys657Met)
17g.746085T>CCA397506000GEMIN4c.1958A>G (p.Lys653Arg)
c.1925A>G (p.Lys642Arg)
c.1970A>G (p.Lys657Arg)
17g.746085T>GCA397506001GEMIN4c.1958A>C (p.Lys653Thr)
c.1925A>C (p.Lys642Thr)
c.1970A>C (p.Lys657Thr)
17g.746086T>ACA397506002GEMIN4c.1957A>T (p.Lys653Ter)
c.1924A>T (p.Lys642Ter)
c.1969A>T (p.Lys657Ter)
 COSMIC COSMIC
17g.746086T>CCA397506003GEMIN4c.1957A>G (p.Lys653Glu)
c.1924A>G (p.Lys642Glu)
c.1969A>G (p.Lys657Glu)
17g.746086T>GCA397506004GEMIN4c.1957A>C (p.Lys653Gln)
c.1924A>C (p.Lys642Gln)
c.1969A>C (p.Lys657Gln)
17g.746087C>ACA497383750GEMIN4c.1956G>T (p.Leu652=)
c.1923G>T (p.Leu641=)
c.1968G>T (p.Leu656=)
17g.746087C>GCA497383751GEMIN4c.1956G>C (p.Leu652=)
c.1923G>C (p.Leu641=)
c.1968G>C (p.Leu656=)
17g.746087C>TCA497383752GEMIN4c.1956G>A (p.Leu652=)
c.1923G>A (p.Leu641=)
c.1968G>A (p.Leu656=)
17g.746088A>CCA397506005GEMIN4c.1955T>G (p.Leu652Arg)
c.1922T>G (p.Leu641Arg)
c.1967T>G (p.Leu656Arg)
17g.746088A>GCA397506006GEMIN4c.1955T>C (p.Leu652Pro)
c.1922T>C (p.Leu641Pro)
c.1967T>C (p.Leu656Pro)
17g.746088A>TCA397506007GEMIN4c.1955T>A (p.Leu652Gln)
c.1922T>A (p.Leu641Gln)
c.1967T>A (p.Leu656Gln)
17g.746089G>ACA497383755GEMIN4c.1954C>T (p.Leu652=)
c.1921C>T (p.Leu641=)
c.1966C>T (p.Leu656=)
 gnomAD v4
17g.746089G>CCA397506008GEMIN4c.1954C>G (p.Leu652Val)
c.1921C>G (p.Leu641Val)
c.1966C>G (p.Leu656Val)
17g.746089G>TCA397506009GEMIN4c.1954C>A (p.Leu652Met)
c.1921C>A (p.Leu641Met)
c.1966C>A (p.Leu656Met)
17g.746090C>ACA497383758GEMIN4c.1953G>T (p.Val651=)
c.1920G>T (p.Val640=)
c.1965G>T (p.Val655=)
17g.746090C=CA2242474558GEMIN4c.1953G= (p.Val651=)
c.1920G= (p.Val640=)
c.1965G= (p.Val655=)
17g.746090C>GCA497383759GEMIN4c.1953G>C (p.Val651=)
c.1920G>C (p.Val640=)
c.1965G>C (p.Val655=)
 dbSNP gnomAD v3 gnomAD v4
17g.746090C>TCA497383760GEMIN4c.1953G>A (p.Val651=)
c.1920G>A (p.Val640=)
c.1965G>A (p.Val655=)
17g.746091A=CA2242474559GEMIN4c.1952T= (p.Val651=)
c.1919T= (p.Val640=)
c.1964T= (p.Val655=)
17g.746091A>CCA397506010GEMIN4c.1952T>G (p.Val651Gly)
c.1919T>G (p.Val640Gly)
c.1964T>G (p.Val655Gly)
 dbSNP
17g.746091A>GCA397506012GEMIN4c.1952T>C (p.Val651Ala)
c.1919T>C (p.Val640Ala)
c.1964T>C (p.Val655Ala)
17g.746091A>TCA397506011GEMIN4c.1952T>A (p.Val651Glu)
c.1919T>A (p.Val640Glu)
c.1964T>A (p.Val655Glu)
17g.746092C>ACA397506013GEMIN4c.1951G>T (p.Val651Leu)
c.1918G>T (p.Val640Leu)
c.1963G>T (p.Val655Leu)
 gnomAD v4
17g.746092C=CA2242474560GEMIN4c.1951G= (p.Val651=)
c.1918G= (p.Val640=)
c.1963G= (p.Val655=)
17g.746092C>GCA397506014GEMIN4c.1951G>C (p.Val651Leu)
c.1918G>C (p.Val640Leu)
c.1963G>C (p.Val655Leu)
17g.746092C>TCA397506015GEMIN4c.1951G>A (p.Val651Met)
c.1918G>A (p.Val640Met)
c.1963G>A (p.Val655Met)
 dbSNP gnomAD v4
17g.746093C>ACA397506016GEMIN4c.1950G>T (p.Glu650Asp)
c.1917G>T (p.Glu639Asp)
c.1962G>T (p.Glu654Asp)
17g.746093C>GCA397506017GEMIN4c.1950G>C (p.Glu650Asp)
c.1917G>C (p.Glu639Asp)
c.1962G>C (p.Glu654Asp)
17g.746093C>TCA497383765GEMIN4c.1950G>A (p.Glu650=)
c.1917G>A (p.Glu639=)
c.1962G>A (p.Glu654=)
17g.746094T>ACA397506018GEMIN4c.1949A>T (p.Glu650Val)
c.1916A>T (p.Glu639Val)
c.1961A>T (p.Glu654Val)
17g.746094T>CCA397506019GEMIN4c.1949A>G (p.Glu650Gly)
c.1916A>G (p.Glu639Gly)
c.1961A>G (p.Glu654Gly)
17g.746094T>GCA397506020GEMIN4c.1949A>C (p.Glu650Ala)
c.1916A>C (p.Glu639Ala)
c.1961A>C (p.Glu654Ala)
17g.746095C>ACA397506021GEMIN4c.1948G>T (p.Glu650Ter)
c.1915G>T (p.Glu639Ter)
c.1960G>T (p.Glu654Ter)
17g.746095C=CA2242474561GEMIN4c.1948G= (p.Glu650=)
c.1915G= (p.Glu639=)
c.1960G= (p.Glu654=)
17g.746095C>GCA397506022GEMIN4c.1948G>C (p.Glu650Gln)
c.1915G>C (p.Glu639Gln)
c.1960G>C (p.Glu654Gln)
17g.746095C>TCA8262515GEMIN4c.1948G>A (p.Glu650Lys)
c.1915G>A (p.Glu639Lys)
c.1960G>A (p.Glu654Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746096G>ACA8262516GEMIN4c.1947C>T (p.Asp649=)
c.1914C>T (p.Asp638=)
c.1959C>T (p.Asp653=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.746096G>CCA8262517GEMIN4c.1947C>G (p.Asp649Glu)
c.1914C>G (p.Asp638Glu)
c.1959C>G (p.Asp653Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746096G=CA2242474562GEMIN4c.1947C= (p.Asp649=)
c.1914C= (p.Asp638=)
c.1959C= (p.Asp653=)
17g.746096G>TCA397506023GEMIN4c.1947C>A (p.Asp649Glu)
c.1914C>A (p.Asp638Glu)
c.1959C>A (p.Asp653Glu)
 gnomAD v4
17g.746097T>ACA397506026GEMIN4c.1946A>T (p.Asp649Val)
c.1913A>T (p.Asp638Val)
c.1958A>T (p.Asp653Val)
17g.746097T>CCA397506024GEMIN4c.1946A>G (p.Asp649Gly)
c.1913A>G (p.Asp638Gly)
c.1958A>G (p.Asp653Gly)
17g.746097T>GCA397506025GEMIN4c.1946A>C (p.Asp649Ala)
c.1913A>C (p.Asp638Ala)
c.1958A>C (p.Asp653Ala)
17g.746098C>ACA397506027GEMIN4c.1945G>T (p.Asp649Tyr)
c.1912G>T (p.Asp638Tyr)
c.1957G>T (p.Asp653Tyr)
17g.746098C>GCA397506028GEMIN4c.1945G>C (p.Asp649His)
c.1912G>C (p.Asp638His)
c.1957G>C (p.Asp653His)
17g.746098C>TCA397506029GEMIN4c.1945G>A (p.Asp649Asn)
c.1912G>A (p.Asp638Asn)
c.1957G>A (p.Asp653Asn)
17g.746099T>ACA497383771GEMIN4c.1944A>T (p.Pro648=)
c.1911A>T (p.Pro637=)
c.1956A>T (p.Pro652=)
17g.746099T>CCA497383772GEMIN4c.1944A>G (p.Pro648=)
c.1911A>G (p.Pro637=)
c.1956A>G (p.Pro652=)
 COSMIC COSMIC
17g.746099T>GCA497383773GEMIN4c.1944A>C (p.Pro648=)
c.1911A>C (p.Pro637=)
c.1956A>C (p.Pro652=)
17g.746100G>ACA397506030GEMIN4c.1943C>T (p.Pro648Leu)
c.1910C>T (p.Pro637Leu)
c.1955C>T (p.Pro652Leu)
 dbSNP gnomAD v4
17g.746100G>CCA397506031GEMIN4c.1943C>G (p.Pro648Arg)
c.1910C>G (p.Pro637Arg)
c.1955C>G (p.Pro652Arg)
17g.746100G=CA2242474563GEMIN4c.1943C= (p.Pro648=)
c.1910C= (p.Pro637=)
c.1955C= (p.Pro652=)
17g.746100G>TCA397506032GEMIN4c.1943C>A (p.Pro648Gln)
c.1910C>A (p.Pro637Gln)
c.1955C>A (p.Pro652Gln)
17g.746101G>ACA397506033GEMIN4c.1942C>T (p.Pro648Ser)
c.1909C>T (p.Pro637Ser)
c.1954C>T (p.Pro652Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746101G>CCA397506034GEMIN4c.1942C>G (p.Pro648Ala)
c.1909C>G (p.Pro637Ala)
c.1954C>G (p.Pro652Ala)
17g.746101G=CA2242474564GEMIN4c.1942C= (p.Pro648=)
c.1909C= (p.Pro637=)
c.1954C= (p.Pro652=)
17g.746101G>TCA397506035GEMIN4c.1942C>A (p.Pro648Thr)
c.1909C>A (p.Pro637Thr)
c.1954C>A (p.Pro652Thr)
17g.746102C>ACA397506036GEMIN4c.1941G>T (p.Glu647Asp)
c.1908G>T (p.Glu636Asp)
c.1953G>T (p.Glu651Asp)
17g.746102C=CA2242474565GEMIN4c.1941G= (p.Glu647=)
c.1908G= (p.Glu636=)
c.1953G= (p.Glu651=)
17g.746102C>GCA397506037GEMIN4c.1941G>C (p.Glu647Asp)
c.1908G>C (p.Glu636Asp)
c.1953G>C (p.Glu651Asp)
17g.746102C>TCA497383775GEMIN4c.1941G>A (p.Glu647=)
c.1908G>A (p.Glu636=)
c.1953G>A (p.Glu651=)
 dbSNP gnomAD v2 gnomAD v4
17g.746103T>ACA397506039GEMIN4c.1940A>T (p.Glu647Val)
c.1907A>T (p.Glu636Val)
c.1952A>T (p.Glu651Val)
17g.746103T>CCA8262518GEMIN4c.1940A>G (p.Glu647Gly)
c.1907A>G (p.Glu636Gly)
c.1952A>G (p.Glu651Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746103T>GCA397506038GEMIN4c.1940A>C (p.Glu647Ala)
c.1907A>C (p.Glu636Ala)
c.1952A>C (p.Glu651Ala)
17g.746103T=CA2242474566GEMIN4c.1940A= (p.Glu647=)
c.1907A= (p.Glu636=)
c.1952A= (p.Glu651=)
17g.746104C>ACA397506040GEMIN4c.1939G>T (p.Glu647Ter)
c.1906G>T (p.Glu636Ter)
c.1951G>T (p.Glu651Ter)
 dbSNP
17g.746104C=CA2242474568GEMIN4c.1939G= (p.Glu647=)
c.1906G= (p.Glu636=)
c.1951G= (p.Glu651=)
17g.746104C>GCA397506041GEMIN4c.1939G>C (p.Glu647Gln)
c.1906G>C (p.Glu636Gln)
c.1951G>C (p.Glu651Gln)
 COSMIC COSMIC
17g.746104C>TCA397506042GEMIN4c.1939G>A (p.Glu647Lys)
c.1906G>A (p.Glu636Lys)
c.1951G>A (p.Glu651Lys)
17g.746104_746107delinsCAAGCA2242474567GEMIN4c.1936_1939delinsCTTG (p.Leu646=)
c.1903_1906delinsCTTG (p.Leu635=)
c.1948_1951delinsCTTG (p.Leu650=)
17g.746105A>CCA497383779GEMIN4c.1938T>G (p.Leu646=)
c.1905T>G (p.Leu635=)
c.1950T>G (p.Leu650=)
 gnomAD v4
17g.746105A>GCA497383780GEMIN4c.1938T>C (p.Leu646=)
c.1905T>C (p.Leu635=)
c.1950T>C (p.Leu650=)
17g.746105A>TCA497383781GEMIN4c.1938T>A (p.Leu646=)
c.1905T>A (p.Leu635=)
c.1950T>A (p.Leu650=)
17g.746109_746111delCA8262519GEMIN4c.1936_1938del (p.Leu646del)
c.1903_1905del (p.Leu635del)
c.1948_1950del (p.Leu650del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746106A>CCA397506043GEMIN4c.1937T>G (p.Leu646Arg)
c.1904T>G (p.Leu635Arg)
c.1949T>G (p.Leu650Arg)
17g.746106A>GCA397506044GEMIN4c.1937T>C (p.Leu646Pro)
c.1904T>C (p.Leu635Pro)
c.1949T>C (p.Leu650Pro)
17g.746106A>TCA397506045GEMIN4c.1937T>A (p.Leu646His)
c.1904T>A (p.Leu635His)
c.1949T>A (p.Leu650His)
17g.746107G>ACA397506046GEMIN4c.1936C>T (p.Leu646Phe)
c.1903C>T (p.Leu635Phe)
c.1948C>T (p.Leu650Phe)
 gnomAD v4
17g.746107G>CCA397506047GEMIN4c.1936C>G (p.Leu646Val)
c.1903C>G (p.Leu635Val)
c.1948C>G (p.Leu650Val)
17g.746107G>TCA397506048GEMIN4c.1936C>A (p.Leu646Ile)
c.1903C>A (p.Leu635Ile)
c.1948C>A (p.Leu650Ile)
17g.746108A>CCA497383787GEMIN4c.1935T>G (p.Leu645=)
c.1902T>G (p.Leu634=)
c.1947T>G (p.Leu649=)
17g.746108A>GCA497383785GEMIN4c.1935T>C (p.Leu645=)
c.1902T>C (p.Leu634=)
c.1947T>C (p.Leu649=)
17g.746108A>TCA497383786GEMIN4c.1935T>A (p.Leu645=)
c.1902T>A (p.Leu634=)
c.1947T>A (p.Leu649=)
17g.746109A>CCA397506049GEMIN4c.1934T>G (p.Leu645Arg)
c.1901T>G (p.Leu634Arg)
c.1946T>G (p.Leu649Arg)
17g.746109A>GCA397506050GEMIN4c.1934T>C (p.Leu645Pro)
c.1901T>C (p.Leu634Pro)
c.1946T>C (p.Leu649Pro)
17g.746109A>TCA397506051GEMIN4c.1934T>A (p.Leu645His)
c.1901T>A (p.Leu634His)
c.1946T>A (p.Leu649His)
17g.746110G>ACA286713675GEMIN4c.1933C>T (p.Leu645Phe)
c.1900C>T (p.Leu634Phe)
c.1945C>T (p.Leu649Phe)
 dbSNP gnomAD v2 gnomAD v4
17g.746110G>CCA397506053GEMIN4c.1933C>G (p.Leu645Val)
c.1900C>G (p.Leu634Val)
c.1945C>G (p.Leu649Val)
17g.746110G=CA2242474569GEMIN4c.1933C= (p.Leu645=)
c.1900C= (p.Leu634=)
c.1945C= (p.Leu649=)
17g.746110G>TCA397506052GEMIN4c.1933C>A (p.Leu645Ile)
c.1900C>A (p.Leu634Ile)
c.1945C>A (p.Leu649Ile)
17g.746111A>CCA497383791GEMIN4c.1932T>G (p.Ala644=)
c.1899T>G (p.Ala633=)
c.1944T>G (p.Ala648=)
17g.746111A>GCA497383792GEMIN4c.1932T>C (p.Ala644=)
c.1899T>C (p.Ala633=)
c.1944T>C (p.Ala648=)
 gnomAD v4
17g.746111A>TCA497383793GEMIN4c.1932T>A (p.Ala644=)
c.1899T>A (p.Ala633=)
c.1944T>A (p.Ala648=)
17g.746112G>ACA397506054GEMIN4c.1931C>T (p.Ala644Val)
c.1898C>T (p.Ala633Val)
c.1943C>T (p.Ala648Val)
 dbSNP gnomAD v3 gnomAD v4
17g.746112G>CCA8262520GEMIN4c.1931C>G (p.Ala644Gly)
c.1898C>G (p.Ala633Gly)
c.1943C>G (p.Ala648Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746112G=CA2242474570GEMIN4c.1931C= (p.Ala644=)
c.1898C= (p.Ala633=)
c.1943C= (p.Ala648=)
17g.746112G>TCA397506055GEMIN4c.1931C>A (p.Ala644Asp)
c.1898C>A (p.Ala633Asp)
c.1943C>A (p.Ala648Asp)
17g.746113C>ACA397506056GEMIN4c.1930G>T (p.Ala644Ser)
c.1897G>T (p.Ala633Ser)
c.1942G>T (p.Ala648Ser)
17g.746113C>GCA397506057GEMIN4c.1930G>C (p.Ala644Pro)
c.1897G>C (p.Ala633Pro)
c.1942G>C (p.Ala648Pro)
17g.746113C>TCA397506058GEMIN4c.1930G>A (p.Ala644Thr)
c.1897G>A (p.Ala633Thr)
c.1942G>A (p.Ala648Thr)
17g.746114A>CCA497383798GEMIN4c.1929T>G (p.Ala643=)
c.1896T>G (p.Ala632=)
c.1941T>G (p.Ala647=)
17g.746114A>GCA497383799GEMIN4c.1929T>C (p.Ala643=)
c.1896T>C (p.Ala632=)
c.1941T>C (p.Ala647=)
17g.746114A>TCA497383800GEMIN4c.1929T>A (p.Ala643=)
c.1896T>A (p.Ala632=)
c.1941T>A (p.Ala647=)
17g.746115G>ACA397506059GEMIN4c.1928C>T (p.Ala643Val)
c.1895C>T (p.Ala632Val)
c.1940C>T (p.Ala647Val)
17g.746115G>CCA397506060GEMIN4c.1928C>G (p.Ala643Gly)
c.1895C>G (p.Ala632Gly)
c.1940C>G (p.Ala647Gly)
17g.746115G>TCA397506061GEMIN4c.1928C>A (p.Ala643Asp)
c.1895C>A (p.Ala632Asp)
c.1940C>A (p.Ala647Asp)

Number of alleles fetched