Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.18400519_18400522delCA1768219020NAT2c.516_519del (p.Asn172LysfsTer?)
c.126_129del (p.Asn42LysfsTer?)
 dbSNP gnomAD v4
8g.18400520A=CA1768219023NAT2c.517A= (p.Lys173=)
c.127A= (p.Lys43=)
8g.18400520A>CCA173519928NAT2c.517A>C (p.Lys173Gln)
c.127A>C (p.Lys43Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.18400520A>GCA370636057NAT2c.517A>G (p.Lys173Glu)
c.127A>G (p.Lys43Glu)
 dbSNP
8g.18400520A>TCA370636056NAT2c.517A>T (p.Lys173Ter)
c.127A>T (p.Lys43Ter)
8g.18400522_18400525delCA2686326439NAT2c.519_522del (p.Lys173AsnfsTer?)
c.129_132del (p.Lys43AsnfsTer?)
 gnomAD v4
8g.18400521A=CA1768219024NAT2c.518A= (p.Lys173=)
c.128A= (p.Lys43=)
8g.18400521A>CCA370636058NAT2c.518A>C (p.Lys173Thr)
c.128A>C (p.Lys43Thr)
8g.18400521A>GCA4651635NAT2c.518A>G (p.Lys173Arg)
c.128A>G (p.Lys43Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.18400521A>TCA370636059NAT2c.518A>T (p.Lys173Ile)
c.128A>T (p.Lys43Ile)
8g.18400522A>CCA370636060NAT2c.519A>C (p.Lys173Asn)
c.129A>C (p.Lys43Asn)
8g.18400522A>GCA459881161NAT2c.519A>G (p.Lys173=)
c.129A>G (p.Lys43=)
8g.18400522A>TCA370636061NAT2c.519A>T (p.Lys173Asn)
c.129A>T (p.Lys43Asn)
8g.18400523G>ACA4651636NAT2c.520G>A (p.Glu174Lys)
c.130G>A (p.Glu44Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.18400523G>CCA370636063NAT2c.520G>C (p.Glu174Gln)
c.130G>C (p.Glu44Gln)
8g.18400523G=CA1768219025NAT2c.520G= (p.Glu174=)
c.130G= (p.Glu44=)
8g.18400523G>TCA370636062NAT2c.520G>T (p.Glu174Ter)
c.130G>T (p.Glu44Ter)
 dbSNP gnomAD v4 COSMIC
8g.18400524A>CCA370636064NAT2c.521A>C (p.Glu174Ala)
c.131A>C (p.Glu44Ala)
8g.18400524A>GCA370636065NAT2c.521A>G (p.Glu174Gly)
c.131A>G (p.Glu44Gly)
8g.18400524A>TCA370636066NAT2c.521A>T (p.Glu174Val)
c.131A>T (p.Glu44Val)
8g.18400525A=CA1768219026NAT2c.522A= (p.Glu174=)
c.132A= (p.Glu44=)
8g.18400525A>CCA370636067NAT2c.522A>C (p.Glu174Asp)
c.132A>C (p.Glu44Asp)
8g.18400525A>GCA459881162NAT2c.522A>G (p.Glu174=)
c.132A>G (p.Glu44=)
8g.18400525A>TCA370636068NAT2c.522A>T (p.Glu174Asp)
c.132A>T (p.Glu44Asp)
 dbSNP
8g.18400526T>ACA370636069NAT2c.523T>A (p.Phe175Ile)
c.133T>A (p.Phe45Ile)
 COSMIC
8g.18400526T>CCA370636070NAT2c.523T>C (p.Phe175Leu)
c.133T>C (p.Phe45Leu)
 gnomAD v4
8g.18400526T>GCA370636071NAT2c.523T>G (p.Phe175Val)
c.133T>G (p.Phe45Val)
8g.18400527T>ACA370636072NAT2c.524T>A (p.Phe175Tyr)
c.134T>A (p.Phe45Tyr)
8g.18400527T>CCA370636073NAT2c.524T>C (p.Phe175Ser)
c.134T>C (p.Phe45Ser)
8g.18400527T>GCA370636074NAT2c.524T>G (p.Phe175Cys)
c.134T>G (p.Phe45Cys)
8g.18400528T>ACA370636075NAT2c.525T>A (p.Phe175Leu)
c.135T>A (p.Phe45Leu)
8g.18400528T>CCA459881163NAT2c.525T>C (p.Phe175=)
c.135T>C (p.Phe45=)
 gnomAD v4
8g.18400528T>GCA370636076NAT2c.525T>G (p.Phe175Leu)
c.135T>G (p.Phe45Leu)
8g.18400529C>ACA370636077NAT2c.526C>A (p.Leu176Ile)
c.136C>A (p.Leu46Ile)
8g.18400529C>GCA370636079NAT2c.526C>G (p.Leu176Val)
c.136C>G (p.Leu46Val)
8g.18400529C>TCA370636078NAT2c.526C>T (p.Leu176Phe)
c.136C>T (p.Leu46Phe)
8g.18400530T>ACA370636080NAT2c.527T>A (p.Leu176His)
c.137T>A (p.Leu46His)
8g.18400530T>CCA370636081NAT2c.527T>C (p.Leu176Pro)
c.137T>C (p.Leu46Pro)
8g.18400530T>GCA370636082NAT2c.527T>G (p.Leu176Arg)
c.137T>G (p.Leu46Arg)
8g.18400531T>ACA459881164NAT2c.528T>A (p.Leu176=)
c.138T>A (p.Leu46=)
8g.18400531T>CCA459881165NAT2c.528T>C (p.Leu176=)
c.138T>C (p.Leu46=)
8g.18400531T>GCA459881166NAT2c.528T>G (p.Leu176=)
c.138T>G (p.Leu46=)
 gnomAD v4
8g.18400532A>CCA370636083NAT2c.529A>C (p.Asn177His)
c.139A>C (p.Asn47His)
8g.18400532A>GCA370636084NAT2c.529A>G (p.Asn177Asp)
c.139A>G (p.Asn47Asp)
 gnomAD v4
8g.18400532A>TCA370636085NAT2c.529A>T (p.Asn177Tyr)
c.139A>T (p.Asn47Tyr)
8g.18400533A>CCA370636086NAT2c.530A>C (p.Asn177Thr)
c.140A>C (p.Asn47Thr)
8g.18400533A>GCA370636087NAT2c.530A>G (p.Asn177Ser)
c.140A>G (p.Asn47Ser)
8g.18400533A>TCA370636088NAT2c.530A>T (p.Asn177Ile)
c.140A>T (p.Asn47Ile)
 gnomAD v4
8g.18400534T>ACA370636089NAT2c.531T>A (p.Asn177Lys)
c.141T>A (p.Asn47Lys)
8g.18400534T>CCA459881167NAT2c.531T>C (p.Asn177=)
c.141T>C (p.Asn47=)

Number of alleles fetched