Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
17g.746010A>GCA8262503GEMIN4c.2033T>C (p.Leu678Pro)
c.2000T>C (p.Leu667Pro)
c.2045T>C (p.Leu682Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746010A>TCA397505837GEMIN4c.2033T>A (p.Leu678Gln)
c.2000T>A (p.Leu667Gln)
c.2045T>A (p.Leu682Gln)
17g.746011G>ACA497383979GEMIN4c.2032C>T (p.Leu678=)
c.1999C>T (p.Leu667=)
c.2044C>T (p.Leu682=)
17g.746011G>CCA397505838GEMIN4c.2032C>G (p.Leu678Val)
c.1999C>G (p.Leu667Val)
c.2044C>G (p.Leu682Val)
17g.746011G>TCA397505839GEMIN4c.2032C>A (p.Leu678Ile)
c.1999C>A (p.Leu667Ile)
c.2044C>A (p.Leu682Ile)
 gnomAD v4
17g.746012A=CA2242474528GEMIN4c.2031T= (p.Thr677=)
c.1998T= (p.Thr666=)
c.2043T= (p.Thr681=)
17g.746012A>CCA8262504GEMIN4c.2031T>G (p.Thr677=)
c.1998T>G (p.Thr666=)
c.2043T>G (p.Thr681=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746012A>GCA497383982GEMIN4c.2031T>C (p.Thr677=)
c.1998T>C (p.Thr666=)
c.2043T>C (p.Thr681=)
17g.746012A>TCA497383983GEMIN4c.2031T>A (p.Thr677=)
c.1998T>A (p.Thr666=)
c.2043T>A (p.Thr681=)
17g.746013G>ACA8262505GEMIN4c.2030C>T (p.Thr677Ile)
c.1997C>T (p.Thr666Ile)
c.2042C>T (p.Thr681Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.746013G>CCA397505840GEMIN4c.2030C>G (p.Thr677Ser)
c.1997C>G (p.Thr666Ser)
c.2042C>G (p.Thr681Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.746013G=CA2242474529GEMIN4c.2030C= (p.Thr677=)
c.1997C= (p.Thr666=)
c.2042C= (p.Thr681=)
17g.746013G>TCA397505841GEMIN4c.2030C>A (p.Thr677Asn)
c.1997C>A (p.Thr666Asn)
c.2042C>A (p.Thr681Asn)
17g.746014T>ACA397505842GEMIN4c.2029A>T (p.Thr677Ser)
c.1996A>T (p.Thr666Ser)
c.2041A>T (p.Thr681Ser)
17g.746014T>CCA397505843GEMIN4c.2029A>G (p.Thr677Ala)
c.1996A>G (p.Thr666Ala)
c.2041A>G (p.Thr681Ala)
17g.746014T>GCA397505844GEMIN4c.2029A>C (p.Thr677Pro)
c.1996A>C (p.Thr666Pro)
c.2041A>C (p.Thr681Pro)
 gnomAD v3 gnomAD v4
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=)

Number of alleles fetched