Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.76983430C>ACA371556666PEX2c.749G>T (p.Trp250Leu)
8g.76983430C>GCA371556667PEX2c.749G>C (p.Trp250Ser)
8g.76983430C>TCA371556668PEX2c.749G>A (p.Trp250Ter)
8g.76983431A=CA1795350932PEX2c.748T= (p.Trp250=)
8g.76983431A>CCA371556669PEX2c.748T>G (p.Trp250Gly)
ClinVar dbSNP
8g.76983431A>GCA154235PEX2c.748T>C (p.Trp250Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76983431A>TCA371556670PEX2c.748T>A (p.Trp250Arg)
8g.76983432C>ACA371556671PEX2c.747G>T (p.Glu249Asp)
8g.76983432C>GCA371556672PEX2c.747G>C (p.Glu249Asp)
8g.76983432C>TCA461773182PEX2c.747G>A (p.Glu249=)
gnomAD v4 COSMIC
8g.76983433T>ACA371556674PEX2c.746A>T (p.Glu249Val)
8g.76983433T>CCA4788659PEX2c.746A>G (p.Glu249Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76983433T>GCA371556673PEX2c.746A>C (p.Glu249Ala)
8g.76983433T=CA1795350936PEX2c.746A= (p.Glu249=)
8g.76983434C>ACA371556675PEX2c.745G>T (p.Glu249Ter)
8g.76983434C>GCA371556676PEX2c.745G>C (p.Glu249Gln)
dbSNP
8g.76983434C>TCA371556677PEX2c.745G>A (p.Glu249Lys)
8g.76983435T>ACA461773183PEX2c.744A>T (p.Gly248=)
gnomAD v4
8g.76983435T>CCA461773184PEX2c.744A>G (p.Gly248=)
8g.76983435T>GCA461773185PEX2c.744A>C (p.Gly248=)
8g.76983436C>ACA371556678PEX2c.743G>T (p.Gly248Val)
8g.76983436C>GCA371556679PEX2c.743G>C (p.Gly248Ala)
8g.76983436C>TCA371556680PEX2c.743G>A (p.Gly248Glu)
gnomAD v4
8g.76983437C>ACA371556681PEX2c.742G>T (p.Gly248Ter)
COSMIC
8g.76983437C=CA1795350940PEX2c.742G= (p.Gly248=)
8g.76983437C>GCA371556683PEX2c.742G>C (p.Gly248Arg)
8g.76983437C>TCA371556682PEX2c.742G>A (p.Gly248Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.76983438A>CCA371556684PEX2c.741T>G (p.Cys247Trp)
8g.76983438A>GCA461773186PEX2c.741T>C (p.Cys247=)
8g.76983438A>TCA371556685PEX2c.741T>A (p.Cys247Ter)
8g.76983439C>ACA371556686PEX2c.740G>T (p.Cys247Phe)
COSMIC
8g.76983439C=CA1795350943PEX2c.740G= (p.Cys247=)
8g.76983439C>GCA371556687PEX2c.740G>C (p.Cys247Ser)
8g.76983439C>TCA10588463PEX2c.740G>A (p.Cys247Tyr)
ClinVar dbSNP
8g.76983439_76983441delinsCATCA1795350946PEX2c.738_740delinsATG (p.Leu246=)
8g.76983440A=CA1795350950PEX2c.739T= (p.Cys247=)
8g.76983440A>CCA371556689PEX2c.739T>G (p.Cys247Gly)
8g.76983440A>GCA163284PEX2c.739T>C (p.Cys247Arg)
ClinVar dbSNP
8g.76983440A>TCA371556688PEX2c.739T>A (p.Cys247Ser)
8g.76983441_76983442delCA583367326PEX2c.738_739del (p.Cys247TrpfsTer13)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.76983441T>ACA461773187PEX2c.738A>T (p.Leu246=)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.76983441T>CCA4788660PEX2c.738A>G (p.Leu246=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76983441T>GCA461773188PEX2c.738A>C (p.Leu246=)
dbSNP gnomAD v4
8g.76983441T=CA1795350955PEX2c.738A= (p.Leu246=)
8g.76983442A>CCA371556690PEX2c.737T>G (p.Leu246Arg)
8g.76983442A>GCA371556691PEX2c.737T>C (p.Leu246Pro)
ClinVar
8g.76983442A>TCA371556692PEX2c.737T>A (p.Leu246Gln)
8g.76983442dupCA2687718858PEX2c.737dup (p.Cys247MetfsTer14)
gnomAD v4
8g.76983443G>ACA461773189PEX2c.736C>T (p.Leu246=)
dbSNP
8g.76983443G>CCA4788661PEX2c.736C>G (p.Leu246Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched