Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.76983628_76983629delinsCACA1795351303PEX2c.550_551delinsTG (p.Cys184=)
8g.76983628_76983629delinsTGCA658797117PEX2c.550_551delinsCA (p.Cys184His)
8g.76983628_76983630delinsCATCA1795351304PEX2c.549_551delinsATG (p.Ile183=)
8g.76983629delCA179988266PEX2c.550del (p.Cys184ValfsTer8)
ClinVar dbSNP
8g.76983629A=CA658683512PEX2c.550T= (p.Cys184=)
8g.76983629A>CCA371557099PEX2c.550T>G (p.Cys184Gly)
gnomAD
8g.76983629A>GCA180286PEX2c.550T>C (p.Cys184Arg)
ClinVar dbSNP ExAC gnomAD
8g.76983629A>TCA371557100PEX2c.550T>A (p.Cys184Ser)
8g.76983631_76983632delCA4788689PEX2c.549_550del (p.Ile183MetfsTer2)
ClinVar dbSNP ExAC gnomAD
8g.76983630T>ACA461773396PEX2c.549A>T (p.Ile183=)
8g.76983630T>CCA371557101PEX2c.549A>G (p.Ile183Met)
8g.76983630T>GCA461773397PEX2c.549A>C (p.Ile183=)
8g.76983630_76983631insGTCA1115556906PEX2c.549_550insCA (p.Cys184HisfsTer9)
c.549_550insCA (p.Arg184HisfsTer9)
8g.76983631A=CA1795351332PEX2c.548T= (p.Ile183=)
8g.76983631A>CCA371557102PEX2c.548T>G (p.Ile183Arg)
8g.76983631A>GCA4788690PEX2c.548T>C (p.Ile183Thr)
dbSNP ExAC gnomAD
8g.76983631A>TCA371557103PEX2c.548T>A (p.Ile183Lys)
8g.76983632T>ACA371557104PEX2c.547A>T (p.Ile183Leu)
8g.76983632T>CCA371557105PEX2c.547A>G (p.Ile183Val)
8g.76983632T>GCA371557106PEX2c.547A>C (p.Ile183Leu)
8g.76983633G>ACA461773400PEX2c.546C>T (p.Asn182=)
8g.76983633G>CCA371557107PEX2c.546C>G (p.Asn182Lys)
8g.76983633G>TCA371557108PEX2c.546C>A (p.Asn182Lys)
8g.76983634T>ACA371557109PEX2c.545A>T (p.Asn182Ile)
8g.76983634T>CCA371557110PEX2c.545A>G (p.Asn182Ser)
8g.76983634T>GCA371557111PEX2c.545A>C (p.Asn182Thr)
8g.76983635T>ACA371557112PEX2c.544A>T (p.Asn182Tyr)
8g.76983635T>CCA371557113PEX2c.544A>G (p.Asn182Asp)
8g.76983635T>GCA371557114PEX2c.544A>C (p.Asn182His)
8g.76983636T>ACA371557115PEX2c.543A>T (p.Gln181His)
8g.76983636T>CCA461773408PEX2c.543A>G (p.Gln181=)
8g.76983636T>GCA371557116PEX2c.543A>C (p.Gln181His)
8g.76983637T>ACA371557117PEX2c.542A>T (p.Gln181Leu)
8g.76983637T>CCA371557118PEX2c.542A>G (p.Gln181Arg)
COSMIC
8g.76983637T>GCA371557119PEX2c.542A>C (p.Gln181Pro)
8g.76983638G>ACA371557122PEX2c.541C>T (p.Gln181Ter)
8g.76983638G>CCA371557121PEX2c.541C>G (p.Gln181Glu)
8g.76983638G>TCA371557120PEX2c.541C>A (p.Gln181Lys)
8g.76983639A=CA1795351336PEX2c.540T= (p.Pro180=)
8g.76983639A>CCA461773412PEX2c.540T>G (p.Pro180=)
8g.76983639A>GCA461773414PEX2c.540T>C (p.Pro180=)
8g.76983639A>TCA461773413PEX2c.540T>A (p.Pro180=)
8g.76983640G>ACA371557125PEX2c.539C>T (p.Pro180Leu)
c.539C>T (p.Pro180LeufsTer3)
8g.76983640G>CCA371557123PEX2c.539C>G (p.Pro180Arg)
c.539C>G (p.Pro180ArgfsTer3)
8g.76983640G>TCA371557124PEX2c.539C>A (p.Pro180His)
c.539C>A (p.Pro180GlnfsTer3)
8g.76983641G>ACA371557126PEX2c.538C>T (p.Pro180Ser)
c.538C>T (p.Pro180SerfsTer3)
8g.76983641G>CCA371557127PEX2c.538C>G (p.Pro180Ala)
c.538C>G (p.Pro180AlafsTer3)
8g.76983641G>TCA371557128PEX2c.538C>A (p.Pro180Thr)
c.538C>A (p.Pro180ThrfsTer3)
8g.76983642C>ACA371557129PEX2c.537G>T (p.Lys179Asn)
8g.76983642C>GCA371557130PEX2c.537G>C (p.Lys179Asn)

Number of alleles fetched