Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.18398607_18400641dupCA3266944655NAT2c.-6-1391_638dup
c.-57-1730_248dup
8g.18400540_18400543delinsTCTCCA1768219030NAT2c.537_540delinsTCTC (p.His179=)
c.147_150delinsTCTC (p.His49=)
8g.18400543_18400545delCA1768219031NAT2c.540_542del (p.Leu181del)
c.150_152del (p.Leu51del)
dbSNP gnomAD v4
8g.18400542T>ACA370636105NAT2c.539T>A (p.Leu180His)
c.149T>A (p.Leu50His)
8g.18400542T>CCA370636106NAT2c.539T>C (p.Leu180Pro)
c.149T>C (p.Leu50Pro)
8g.18400542T>GCA370636104NAT2c.539T>G (p.Leu180Arg)
c.149T>G (p.Leu50Arg)
8g.18400543C>ACA459881172NAT2c.540C>A (p.Leu180=)
c.150C>A (p.Leu50=)
COSMIC
8g.18400543C>GCA459881173NAT2c.540C>G (p.Leu180=)
c.150C>G (p.Leu50=)
8g.18400543C>TCA459881174NAT2c.540C>T (p.Leu180=)
c.150C>T (p.Leu50=)
8g.18400544C>ACA370636107NAT2c.541C>A (p.Leu181Met)
c.151C>A (p.Leu51Met)
8g.18400544C=CA3163576319NAT2c.541C= (p.Leu181=)
c.151C= (p.Leu51=)
dbSNP
8g.18400544C>GCA370636108NAT2c.541C>G (p.Leu181Val)
c.151C>G (p.Leu51Val)
8g.18400544C>TCA459881175NAT2c.541C>T (p.Leu181=)
c.151C>T (p.Leu51=)
dbSNP gnomAD v4
8g.18400545T>ACA370636109NAT2c.542T>A (p.Leu181Gln)
c.152T>A (p.Leu51Gln)
8g.18400545T>CCA370636110NAT2c.542T>C (p.Leu181Pro)
c.152T>C (p.Leu51Pro)
8g.18400545T>GCA370636111NAT2c.542T>G (p.Leu181Arg)
c.152T>G (p.Leu51Arg)
8g.18400546G>ACA459881176NAT2c.543G>A (p.Leu181=)
c.153G>A (p.Leu51=)
8g.18400546G>CCA459881177NAT2c.543G>C (p.Leu181=)
c.153G>C (p.Leu51=)
8g.18400546G>TCA459881178NAT2c.543G>T (p.Leu181=)
c.153G>T (p.Leu51=)
8g.18400547C>ACA370636114NAT2c.544C>A (p.Pro182Thr)
c.154C>A (p.Pro52Thr)
dbSNP gnomAD v4
8g.18400547C=CA3163576321NAT2c.544C= (p.Pro182=)
c.154C= (p.Pro52=)
dbSNP
8g.18400547C>GCA370636112NAT2c.544C>G (p.Pro182Ala)
c.154C>G (p.Pro52Ala)
8g.18400547C>TCA370636113NAT2c.544C>T (p.Pro182Ser)
c.154C>T (p.Pro52Ser)
8g.18400548C>ACA370636115NAT2c.545C>A (p.Pro182Gln)
c.155C>A (p.Pro52Gln)
dbSNP gnomAD v4
8g.18400548C=CA3163576323NAT2c.545C= (p.Pro182=)
c.155C= (p.Pro52=)
dbSNP
8g.18400548C>GCA370636116NAT2c.545C>G (p.Pro182Arg)
c.155C>G (p.Pro52Arg)
8g.18400548C>TCA370636117NAT2c.545C>T (p.Pro182Leu)
c.155C>T (p.Pro52Leu)
8g.18400549A=CA3158628115NAT2c.546A= (p.Pro182=)
c.156A= (p.Pro52=)
dbSNP
8g.18400549A>CCA459881184NAT2c.546A>C (p.Pro182=)
c.156A>C (p.Pro52=)
dbSNP gnomAD v4
8g.18400549A>GCA459881182NAT2c.546A>G (p.Pro182=)
c.156A>G (p.Pro52=)
dbSNP
8g.18400549A>TCA459881180NAT2c.546A>T (p.Pro182=)
c.156A>T (p.Pro52=)
8g.18400549_18400552delinsAAAGCA1768219033NAT2c.546_549delinsAAAG (p.Pro182=)
c.156_159delinsAAAG (p.Pro52=)
8g.18400550A=CA1768219034NAT2c.547A= (p.Lys183=)
c.157A= (p.Lys53=)
dbSNP
8g.18400550A>CCA370636118NAT2c.547A>C (p.Lys183Gln)
c.157A>C (p.Lys53Gln)
8g.18400550A>GCA370636119NAT2c.547A>G (p.Lys183Glu)
c.157A>G (p.Lys53Glu)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.18400550A>TCA370636120NAT2c.547A>T (p.Lys183Ter)
c.157A>T (p.Lys53Ter)
8g.18400555_18400557delCA1768219035NAT2c.552_554del (p.Lys185del)
c.162_164del (p.Lys55del)
dbSNP
8g.18400551A=CA1768219036NAT2c.548A= (p.Lys183=)
c.158A= (p.Lys53=)
dbSNP
8g.18400551A>CCA370636122NAT2c.548A>C (p.Lys183Thr)
c.158A>C (p.Lys53Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.18400551A>GCA370636123NAT2c.548A>G (p.Lys183Arg)
c.158A>G (p.Lys53Arg)
dbSNP gnomAD v4
8g.18400551A>TCA370636121NAT2c.548A>T (p.Lys183Met)
c.158A>T (p.Lys53Met)
8g.18400552G>ACA459881185NAT2c.549G>A (p.Lys183=)
c.159G>A (p.Lys53=)
8g.18400552G>CCA370636124NAT2c.549G>C (p.Lys183Asn)
c.159G>C (p.Lys53Asn)
8g.18400552G>TCA370636125NAT2c.549G>T (p.Lys183Asn)
c.159G>T (p.Lys53Asn)
8g.18400553A>CCA370636126NAT2c.550A>C (p.Lys184Gln)
c.160A>C (p.Lys54Gln)
8g.18400553A>GCA370636127NAT2c.550A>G (p.Lys184Glu)
c.160A>G (p.Lys54Glu)
8g.18400553A>TCA370636128NAT2c.550A>T (p.Lys184Ter)
c.160A>T (p.Lys54Ter)
8g.18400554A=CA3163576335NAT2c.551A= (p.Lys184=)
c.161A= (p.Lys54=)
dbSNP
8g.18400554A>CCA370636129NAT2c.551A>C (p.Lys184Thr)
c.161A>C (p.Lys54Thr)
COSMIC
8g.18400554A>GCA370636130NAT2c.551A>G (p.Lys184Arg)
c.161A>G (p.Lys54Arg)
dbSNP gnomAD v4

Number of alleles fetched