Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
17g.746005C>ACA397505826GEMIN4c.2038G>T (p.Ala680Ser)
c.2005G>T (p.Ala669Ser)
c.2050G>T (p.Ala684Ser)
17g.746005C=CA2242474525GEMIN4c.2038G= (p.Ala680=)
c.2005G= (p.Ala669=)
c.2050G= (p.Ala684=)
17g.746005C>GCA397505827GEMIN4c.2038G>C (p.Ala680Pro)
c.2005G>C (p.Ala669Pro)
c.2050G>C (p.Ala684Pro)
17g.746005C>TCA8262502GEMIN4c.2038G>A (p.Ala680Thr)
c.2005G>A (p.Ala669Thr)
c.2050G>A (p.Ala684Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.746006C>ACA397505828GEMIN4c.2037G>T (p.Glu679Asp)
c.2004G>T (p.Glu668Asp)
c.2049G>T (p.Glu683Asp)
17g.746006C=CA2242474526GEMIN4c.2037G= (p.Glu679=)
c.2004G= (p.Glu668=)
c.2049G= (p.Glu683=)
17g.746006C>GCA397505829GEMIN4c.2037G>C (p.Glu679Asp)
c.2004G>C (p.Glu668Asp)
c.2049G>C (p.Glu683Asp)
17g.746006C>TCA286713671GEMIN4c.2037G>A (p.Glu679=)
c.2004G>A (p.Glu668=)
c.2049G>A (p.Glu683=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.746007T>ACA397505830GEMIN4c.2036A>T (p.Glu679Val)
c.2003A>T (p.Glu668Val)
c.2048A>T (p.Glu683Val)
17g.746007T>CCA397505831GEMIN4c.2036A>G (p.Glu679Gly)
c.2003A>G (p.Glu668Gly)
c.2048A>G (p.Glu683Gly)
 gnomAD v4
17g.746007T>GCA397505832GEMIN4c.2036A>C (p.Glu679Ala)
c.2003A>C (p.Glu668Ala)
c.2048A>C (p.Glu683Ala)
17g.746008C>ACA397505835GEMIN4c.2035G>T (p.Glu679Ter)
c.2002G>T (p.Glu668Ter)
c.2047G>T (p.Glu683Ter)
17g.746008C>GCA397505834GEMIN4c.2035G>C (p.Glu679Gln)
c.2002G>C (p.Glu668Gln)
c.2047G>C (p.Glu683Gln)
17g.746008C>TCA397505833GEMIN4c.2035G>A (p.Glu679Lys)
c.2002G>A (p.Glu668Lys)
c.2047G>A (p.Glu683Lys)
17g.746009T>ACA497383970GEMIN4c.2034A>T (p.Leu678=)
c.2001A>T (p.Leu667=)
c.2046A>T (p.Leu682=)
17g.746009T>CCA497383971GEMIN4c.2034A>G (p.Leu678=)
c.2001A>G (p.Leu667=)
c.2046A>G (p.Leu682=)
17g.746009T>GCA497383973GEMIN4c.2034A>C (p.Leu678=)
c.2001A>C (p.Leu667=)
c.2046A>C (p.Leu682=)
17g.746010A=CA2242474527GEMIN4c.2033T= (p.Leu678=)
c.2000T= (p.Leu667=)
c.2045T= (p.Leu682=)
17g.746010A>CCA397505836GEMIN4c.2033T>G (p.Leu678Arg)
c.2000T>G (p.Leu667Arg)
c.2045T>G (p.Leu682Arg)

Number of alleles fetched