Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.745992C>ACA397505802GEMIN4c.2051G>T (p.Arg684Leu)
c.2063G>T (p.Arg688Leu)
c.2018G>T (p.Arg673Leu)
17g.745992C>GCA397505803GEMIN4c.2051G>C (p.Arg684Pro)
c.2063G>C (p.Arg688Pro)
c.2018G>C (p.Arg673Pro)
17g.745992C>TCA8262497GEMIN4c.2051G>A (p.Arg684Gln)
c.2063G>A (p.Arg688Gln)
c.2018G>A (p.Arg673Gln)
dbSNP ExAC gnomAD
17g.745993G>ACA8262498GEMIN4c.2050C>T (p.Arg684Ter)
c.2062C>T (p.Arg688Ter)
c.2017C>T (p.Arg673Ter)
dbSNP ExAC gnomAD
17g.745993G>CCA397505804GEMIN4c.2050C>G (p.Arg684Gly)
c.2062C>G (p.Arg688Gly)
c.2017C>G (p.Arg673Gly)
17g.745993G>TCA497383931GEMIN4c.2050C>A (p.Arg684=)
c.2062C>A (p.Arg688=)
c.2017C>A (p.Arg673=)
17g.745994G>ACA497383933GEMIN4c.2049C>T (p.Cys683=)
c.2061C>T (p.Cys687=)
c.2016C>T (p.Cys672=)
17g.745994G>CCA397505805GEMIN4c.2049C>G (p.Cys683Trp)
c.2061C>G (p.Cys687Trp)
c.2016C>G (p.Cys672Trp)
17g.745994G>TCA397505806GEMIN4c.2049C>A (p.Cys683Ter)
c.2061C>A (p.Cys687Ter)
c.2016C>A (p.Cys672Ter)
17g.745995C>ACA397505809GEMIN4c.2048G>T (p.Cys683Phe)
c.2060G>T (p.Cys687Phe)
c.2015G>T (p.Cys672Phe)
17g.745995C>GCA397505807GEMIN4c.2048G>C (p.Cys683Ser)
c.2060G>C (p.Cys687Ser)
c.2015G>C (p.Cys672Ser)
17g.745995C>TCA397505808GEMIN4c.2048G>A (p.Cys683Tyr)
c.2060G>A (p.Cys687Tyr)
c.2015G>A (p.Cys672Tyr)
17g.745996A>CCA397505810GEMIN4c.2047T>G (p.Cys683Gly)
c.2059T>G (p.Cys687Gly)
c.2014T>G (p.Cys672Gly)
17g.745996A>GCA286713669GEMIN4c.2047T>C (p.Cys683Arg)
c.2059T>C (p.Cys687Arg)
c.2014T>C (p.Cys672Arg)
dbSNP gnomAD
17g.745996A>TCA397505811GEMIN4c.2047T>A (p.Cys683Ser)
c.2059T>A (p.Cys687Ser)
c.2014T>A (p.Cys672Ser)
17g.745997C>ACA497383938GEMIN4c.2046G>T (p.Ala682=)
c.2058G>T (p.Ala686=)
c.2013G>T (p.Ala671=)
17g.745997C>GCA497383940GEMIN4c.2046G>C (p.Ala682=)
c.2058G>C (p.Ala686=)
c.2013G>C (p.Ala671=)
17g.745997C>TCA497383941GEMIN4c.2046G>A (p.Ala682=)
c.2058G>A (p.Ala686=)
c.2013G>A (p.Ala671=)
gnomAD
17g.745998G>ACA286713670GEMIN4c.2045C>T (p.Ala682Val)
c.2057C>T (p.Ala686Val)
c.2012C>T (p.Ala671Val)
dbSNP gnomAD
17g.745998G>CCA397505812GEMIN4c.2045C>G (p.Ala682Gly)
c.2057C>G (p.Ala686Gly)
c.2012C>G (p.Ala671Gly)
COSMIC COSMIC
17g.745998G>TCA397505813GEMIN4c.2045C>A (p.Ala682Glu)
c.2057C>A (p.Ala686Glu)
c.2012C>A (p.Ala671Glu)
17g.745999C>ACA397505814GEMIN4c.2044G>T (p.Ala682Ser)
c.2056G>T (p.Ala686Ser)
c.2011G>T (p.Ala671Ser)
17g.745999C>GCA397505815GEMIN4c.2044G>C (p.Ala682Pro)
c.2056G>C (p.Ala686Pro)
c.2011G>C (p.Ala671Pro)
17g.745999C>TCA8262499GEMIN4c.2044G>A (p.Ala682Thr)
c.2056G>A (p.Ala686Thr)
c.2011G>A (p.Ala671Thr)
dbSNP ExAC gnomAD
17g.746000G>ACA8262500GEMIN4c.2043C>T (p.Asn681=)
c.2055C>T (p.Asn685=)
c.2010C>T (p.Asn670=)
dbSNP ExAC gnomAD COSMIC COSMIC
17g.746000G>CCA397505816GEMIN4c.2043C>G (p.Asn681Lys)
c.2055C>G (p.Asn685Lys)
c.2010C>G (p.Asn670Lys)
17g.746000G>TCA397505817GEMIN4c.2043C>A (p.Asn681Lys)
c.2055C>A (p.Asn685Lys)
c.2010C>A (p.Asn670Lys)
17g.746001T>ACA397505820GEMIN4c.2042A>T (p.Asn681Ile)
c.2054A>T (p.Asn685Ile)
c.2009A>T (p.Asn670Ile)
17g.746001T>CCA397505819GEMIN4c.2042A>G (p.Asn681Ser)
c.2054A>G (p.Asn685Ser)
c.2009A>G (p.Asn670Ser)
17g.746001T>GCA397505818GEMIN4c.2042A>C (p.Asn681Thr)
c.2054A>C (p.Asn685Thr)
c.2009A>C (p.Asn670Thr)
17g.746002T>ACA8262501GEMIN4c.2041A>T (p.Asn681Tyr)
c.2053A>T (p.Asn685Tyr)
c.2008A>T (p.Asn670Tyr)
dbSNP ExAC gnomAD
17g.746002T>CCA397505822GEMIN4c.2041A>G (p.Asn681Asp)
c.2053A>G (p.Asn685Asp)
c.2008A>G (p.Asn670Asp)
17g.746002T>GCA397505821GEMIN4c.2041A>C (p.Asn681His)
c.2053A>C (p.Asn685His)
c.2008A>C (p.Asn670His)
17g.746003T>ACA497383951GEMIN4c.2040A>T (p.Ala680=)
c.2052A>T (p.Ala684=)
c.2007A>T (p.Ala669=)
17g.746003T>CCA497383952GEMIN4c.2040A>G (p.Ala680=)
c.2052A>G (p.Ala684=)
c.2007A>G (p.Ala669=)
17g.746003T>GCA497383954GEMIN4c.2040A>C (p.Ala680=)
c.2052A>C (p.Ala684=)
c.2007A>C (p.Ala669=)
17g.746004G>ACA397505823GEMIN4c.2039C>T (p.Ala680Val)
c.2051C>T (p.Ala684Val)
c.2006C>T (p.Ala669Val)
17g.746004G>CCA397505824GEMIN4c.2039C>G (p.Ala680Gly)
c.2051C>G (p.Ala684Gly)
c.2006C>G (p.Ala669Gly)
17g.746004G>TCA397505825GEMIN4c.2039C>A (p.Ala680Glu)
c.2051C>A (p.Ala684Glu)
c.2006C>A (p.Ala669Glu)
17g.746005C>ACA397505826GEMIN4c.2038G>T (p.Ala680Ser)
c.2050G>T (p.Ala684Ser)
c.2005G>T (p.Ala669Ser)
17g.746005C>GCA397505827GEMIN4c.2038G>C (p.Ala680Pro)
c.2050G>C (p.Ala684Pro)
c.2005G>C (p.Ala669Pro)
17g.746005C>TCA8262502GEMIN4c.2038G>A (p.Ala680Thr)
c.2050G>A (p.Ala684Thr)
c.2005G>A (p.Ala669Thr)
dbSNP ExAC gnomAD
17g.746006C>ACA397505828GEMIN4c.2037G>T (p.Glu679Asp)
c.2049G>T (p.Glu683Asp)
c.2004G>T (p.Glu668Asp)
17g.746006C>GCA397505829GEMIN4c.2037G>C (p.Glu679Asp)
c.2049G>C (p.Glu683Asp)
c.2004G>C (p.Glu668Asp)
17g.746006C>TCA286713671GEMIN4c.2037G>A (p.Glu679=)
c.2049G>A (p.Glu683=)
c.2004G>A (p.Glu668=)
dbSNP gnomAD
17g.746007T>ACA397505830GEMIN4c.2036A>T (p.Glu679Val)
c.2048A>T (p.Glu683Val)
c.2003A>T (p.Glu668Val)
17g.746007T>CCA397505831GEMIN4c.2036A>G (p.Glu679Gly)
c.2048A>G (p.Glu683Gly)
c.2003A>G (p.Glu668Gly)
17g.746007T>GCA397505832GEMIN4c.2036A>C (p.Glu679Ala)
c.2048A>C (p.Glu683Ala)
c.2003A>C (p.Glu668Ala)
17g.746008C>ACA397505835GEMIN4c.2035G>T (p.Glu679Ter)
c.2047G>T (p.Glu683Ter)
c.2002G>T (p.Glu668Ter)
17g.746008C>GCA397505834GEMIN4c.2035G>C (p.Glu679Gln)
c.2047G>C (p.Glu683Gln)
c.2002G>C (p.Glu668Gln)

Number of alleles fetched