Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.745992C>ACA397505802GEMIN4c.2051G>T (p.Arg684Leu)
c.2018G>T (p.Arg673Leu)
c.2063G>T (p.Arg688Leu)
 gnomAD v4
17g.745992C=CA2242474516GEMIN4c.2051G= (p.Arg684=)
c.2018G= (p.Arg673=)
c.2063G= (p.Arg688=)
17g.745992C>GCA397505803GEMIN4c.2051G>C (p.Arg684Pro)
c.2018G>C (p.Arg673Pro)
c.2063G>C (p.Arg688Pro)
17g.745992C>TCA8262497GEMIN4c.2051G>A (p.Arg684Gln)
c.2018G>A (p.Arg673Gln)
c.2063G>A (p.Arg688Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745993G>ACA8262498GEMIN4c.2050C>T (p.Arg684Ter)
c.2017C>T (p.Arg673Ter)
c.2062C>T (p.Arg688Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.745993G>CCA397505804GEMIN4c.2050C>G (p.Arg684Gly)
c.2017C>G (p.Arg673Gly)
c.2062C>G (p.Arg688Gly)
17g.745993G=CA2242474517GEMIN4c.2050C= (p.Arg684=)
c.2017C= (p.Arg673=)
c.2062C= (p.Arg688=)
17g.745993G>TCA497383931GEMIN4c.2050C>A (p.Arg684=)
c.2017C>A (p.Arg673=)
c.2062C>A (p.Arg688=)
17g.745994G>ACA497383933GEMIN4c.2049C>T (p.Cys683=)
c.2016C>T (p.Cys672=)
c.2061C>T (p.Cys687=)
17g.745994G>CCA397505805GEMIN4c.2049C>G (p.Cys683Trp)
c.2016C>G (p.Cys672Trp)
c.2061C>G (p.Cys687Trp)
17g.745994G>TCA397505806GEMIN4c.2049C>A (p.Cys683Ter)
c.2016C>A (p.Cys672Ter)
c.2061C>A (p.Cys687Ter)
 gnomAD v4
17g.745995C>ACA397505809GEMIN4c.2048G>T (p.Cys683Phe)
c.2015G>T (p.Cys672Phe)
c.2060G>T (p.Cys687Phe)
17g.745995C>GCA397505807GEMIN4c.2048G>C (p.Cys683Ser)
c.2015G>C (p.Cys672Ser)
c.2060G>C (p.Cys687Ser)
17g.745995C>TCA397505808GEMIN4c.2048G>A (p.Cys683Tyr)
c.2015G>A (p.Cys672Tyr)
c.2060G>A (p.Cys687Tyr)
17g.745996A=CA2242474518GEMIN4c.2047T= (p.Cys683=)
c.2014T= (p.Cys672=)
c.2059T= (p.Cys687=)
17g.745996A>CCA397505810GEMIN4c.2047T>G (p.Cys683Gly)
c.2014T>G (p.Cys672Gly)
c.2059T>G (p.Cys687Gly)
17g.745996A>GCA286713669GEMIN4c.2047T>C (p.Cys683Arg)
c.2014T>C (p.Cys672Arg)
c.2059T>C (p.Cys687Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.745996A>TCA397505811GEMIN4c.2047T>A (p.Cys683Ser)
c.2014T>A (p.Cys672Ser)
c.2059T>A (p.Cys687Ser)
17g.745997C>ACA497383938GEMIN4c.2046G>T (p.Ala682=)
c.2013G>T (p.Ala671=)
c.2058G>T (p.Ala686=)
17g.745997C=CA2242474519GEMIN4c.2046G= (p.Ala682=)
c.2013G= (p.Ala671=)
c.2058G= (p.Ala686=)
17g.745997C>GCA497383940GEMIN4c.2046G>C (p.Ala682=)
c.2013G>C (p.Ala671=)
c.2058G>C (p.Ala686=)
17g.745997C>TCA497383941GEMIN4c.2046G>A (p.Ala682=)
c.2013G>A (p.Ala671=)
c.2058G>A (p.Ala686=)
 dbSNP gnomAD v2 gnomAD v4
17g.745998G>ACA286713670GEMIN4c.2045C>T (p.Ala682Val)
c.2012C>T (p.Ala671Val)
c.2057C>T (p.Ala686Val)
 dbSNP gnomAD v2 gnomAD v4
17g.745998G>CCA397505812GEMIN4c.2045C>G (p.Ala682Gly)
c.2012C>G (p.Ala671Gly)
c.2057C>G (p.Ala686Gly)
 COSMIC COSMIC
17g.745998G=CA2242474520GEMIN4c.2045C= (p.Ala682=)
c.2012C= (p.Ala671=)
c.2057C= (p.Ala686=)
17g.745998G>TCA397505813GEMIN4c.2045C>A (p.Ala682Glu)
c.2012C>A (p.Ala671Glu)
c.2057C>A (p.Ala686Glu)
17g.745998dupCA2635153305GEMIN4c.2045dup (p.Cys683ValfsTer?)
c.2012dup (p.Cys672ValfsTer?)
c.2057dup (p.Cys687ValfsTer?)
 gnomAD v4
17g.745999C>ACA397505814GEMIN4c.2044G>T (p.Ala682Ser)
c.2011G>T (p.Ala671Ser)
c.2056G>T (p.Ala686Ser)
17g.745999C=CA2242474521GEMIN4c.2044G= (p.Ala682=)
c.2011G= (p.Ala671=)
c.2056G= (p.Ala686=)
17g.745999C>GCA397505815GEMIN4c.2044G>C (p.Ala682Pro)
c.2011G>C (p.Ala671Pro)
c.2056G>C (p.Ala686Pro)
17g.745999C>TCA8262499GEMIN4c.2044G>A (p.Ala682Thr)
c.2011G>A (p.Ala671Thr)
c.2056G>A (p.Ala686Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746000G>ACA8262500GEMIN4c.2043C>T (p.Asn681=)
c.2010C>T (p.Asn670=)
c.2055C>T (p.Asn685=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.746000G>CCA397505816GEMIN4c.2043C>G (p.Asn681Lys)
c.2010C>G (p.Asn670Lys)
c.2055C>G (p.Asn685Lys)
17g.746000G=CA2242474522GEMIN4c.2043C= (p.Asn681=)
c.2010C= (p.Asn670=)
c.2055C= (p.Asn685=)
17g.746000G>TCA397505817GEMIN4c.2043C>A (p.Asn681Lys)
c.2010C>A (p.Asn670Lys)
c.2055C>A (p.Asn685Lys)
17g.746001T>ACA397505820GEMIN4c.2042A>T (p.Asn681Ile)
c.2009A>T (p.Asn670Ile)
c.2054A>T (p.Asn685Ile)
17g.746001T>CCA397505819GEMIN4c.2042A>G (p.Asn681Ser)
c.2009A>G (p.Asn670Ser)
c.2054A>G (p.Asn685Ser)
17g.746001T>GCA397505818GEMIN4c.2042A>C (p.Asn681Thr)
c.2009A>C (p.Asn670Thr)
c.2054A>C (p.Asn685Thr)
17g.746003delCA3000235904GEMIN4c.2042del (p.Asn681ThrfsTer?)
c.2009del (p.Asn670ThrfsTer?)
c.2054del (p.Asn685ThrfsTer?)
17g.746002T>ACA8262501GEMIN4c.2041A>T (p.Asn681Tyr)
c.2008A>T (p.Asn670Tyr)
c.2053A>T (p.Asn685Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746002T>CCA397505822GEMIN4c.2041A>G (p.Asn681Asp)
c.2008A>G (p.Asn670Asp)
c.2053A>G (p.Asn685Asp)
 gnomAD v4
17g.746002T>GCA397505821GEMIN4c.2041A>C (p.Asn681His)
c.2008A>C (p.Asn670His)
c.2053A>C (p.Asn685His)
17g.746002T=CA2242474523GEMIN4c.2041A= (p.Asn681=)
c.2008A= (p.Asn670=)
c.2053A= (p.Asn685=)
17g.746003T>ACA497383951GEMIN4c.2040A>T (p.Ala680=)
c.2007A>T (p.Ala669=)
c.2052A>T (p.Ala684=)
17g.746003T>CCA497383952GEMIN4c.2040A>G (p.Ala680=)
c.2007A>G (p.Ala669=)
c.2052A>G (p.Ala684=)
17g.746003T>GCA497383954GEMIN4c.2040A>C (p.Ala680=)
c.2007A>C (p.Ala669=)
c.2052A>C (p.Ala684=)
17g.746004G>ACA397505823GEMIN4c.2039C>T (p.Ala680Val)
c.2006C>T (p.Ala669Val)
c.2051C>T (p.Ala684Val)
 dbSNP gnomAD v4
17g.746004G>CCA397505824GEMIN4c.2039C>G (p.Ala680Gly)
c.2006C>G (p.Ala669Gly)
c.2051C>G (p.Ala684Gly)
17g.746004G=CA2242474524GEMIN4c.2039C= (p.Ala680=)
c.2006C= (p.Ala669=)
c.2051C= (p.Ala684=)
17g.746004G>TCA397505825GEMIN4c.2039C>A (p.Ala680Glu)
c.2006C>A (p.Ala669Glu)
c.2051C>A (p.Ala684Glu)
 dbSNP

Number of alleles fetched