Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.76983529T>ACA371556875PEX2c.650A>T (p.Lys217Ile)
8g.76983529T>CCA371556876PEX2c.650A>G (p.Lys217Arg)
8g.76983529T>GCA371556877PEX2c.650A>C (p.Lys217Thr)
8g.76983530T>ACA371556880PEX2c.649A>T (p.Lys217Ter)
8g.76983530T>CCA371556878PEX2c.649A>G (p.Lys217Glu)
8g.76983530T>GCA371556879PEX2c.649A>C (p.Lys217Gln)
8g.76983531C>ACA371556881PEX2c.648G>T (p.Leu216Phe)
8g.76983531C=CA1795351115PEX2c.648G= (p.Leu216=)
8g.76983531C>GCA4788673PEX2c.648G>C (p.Leu216Phe)
dbSNP ExAC gnomAD
8g.76983531C>TCA461773290PEX2c.648G>A (p.Leu216=)
COSMIC
8g.76983532A>CCA371556882PEX2c.647T>G (p.Leu216Trp)
8g.76983532A>GCA371556883PEX2c.647T>C (p.Leu216Ser)
8g.76983532A>TCA371556884PEX2c.647T>A (p.Leu216Ter)
8g.76983533A>CCA371556885PEX2c.646T>G (p.Leu216Val)
8g.76983533A>GCA461773292PEX2c.646T>C (p.Leu216=)
COSMIC
8g.76983533A>TCA371556886PEX2c.646T>A (p.Leu216Met)
8g.76983534C>ACA371556887PEX2c.645G>T (p.Lys215Asn)
8g.76983534C>GCA371556888PEX2c.645G>C (p.Lys215Asn)
8g.76983534C>TCA461773294PEX2c.645G>A (p.Lys215=)
8g.76983535T>ACA371556889PEX2c.644A>T (p.Lys215Met)
8g.76983535T>CCA371556890PEX2c.644A>G (p.Lys215Arg)
8g.76983535T>GCA371556891PEX2c.644A>C (p.Lys215Thr)
8g.76983536T>ACA371556894PEX2c.643A>T (p.Lys215Ter)
8g.76983536T>CCA371556893PEX2c.643A>G (p.Lys215Glu)
8g.76983536T>GCA371556892PEX2c.643A>C (p.Lys215Gln)
8g.76983536_76983537delinsTCCA1795351117PEX2c.642_643delinsGA (p.Gln214=)
8g.76983537delCA179988258PEX2c.642del (p.Lys215SerfsTer2)
dbSNP gnomAD
8g.76983537C>ACA371556895PEX2c.642G>T (p.Gln214His)
8g.76983537C=CA1795351123PEX2c.642G= (p.Gln214=)
8g.76983537C>GCA371556896PEX2c.642G>C (p.Gln214His)
8g.76983537C>TCA461773297PEX2c.642G>A (p.Gln214=)
ClinVar gnomAD
8g.76983538T>ACA371556897PEX2c.641A>T (p.Gln214Leu)
COSMIC
8g.76983538T>CCA371556898PEX2c.641A>G (p.Gln214Arg)
8g.76983538T>GCA371556899PEX2c.641A>C (p.Gln214Pro)
8g.76983539G>ACA371556900PEX2c.640C>T (p.Gln214Ter)
COSMIC
8g.76983539G>CCA371556901PEX2c.640C>G (p.Gln214Glu)
8g.76983539G>TCA371556902PEX2c.640C>A (p.Gln214Lys)
8g.76983540G>ACA461773300PEX2c.639C>T (p.Val213=)
8g.76983540G>CCA461773301PEX2c.639C>G (p.Val213=)
8g.76983540G=CA1795351129PEX2c.639C= (p.Val213=)
8g.76983540G>TCA461773302PEX2c.639C>A (p.Val213=)
8g.76983541A>CCA371556903PEX2c.638T>G (p.Val213Gly)
8g.76983541A>GCA371556904PEX2c.638T>C (p.Val213Ala)
8g.76983541A>TCA371556905PEX2c.638T>A (p.Val213Asp)
8g.76983542C>ACA371556907PEX2c.637G>T (p.Val213Phe)
8g.76983542C>GCA371556908PEX2c.637G>C (p.Val213Leu)
8g.76983542C>TCA371556906PEX2c.637G>A (p.Val213Ile)
8g.76983543A=CA1795351131PEX2c.636T= (p.Asn212=)
8g.76983543A>CCA371556909PEX2c.636T>G (p.Asn212Lys)
8g.76983543A>GCA4788674PEX2c.636T>C (p.Asn212=)
dbSNP ExAC gnomAD

Number of alleles fetched