Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.61032028G>ACA119009PEX13c.702G>A (p.Trp234Ter)
c.585G>A (p.Trp195Ter)
 ClinVar dbSNP
2g.61032028G>CCA346944505PEX13c.702G>C (p.Trp234Cys)
c.585G>C (p.Trp195Cys)
2g.61032028G=CA1255168221PEX13c.702G= (p.Trp234=)
c.585G= (p.Trp195=)
2g.61032028G>TCA346944508PEX13c.702G>T (p.Trp234Cys)
c.585G>T (p.Trp195Cys)
2g.61032029C>ACA346944510PEX13c.703C>A (p.Pro235Thr)
c.586C>A (p.Pro196Thr)
2g.61032029C>GCA346944511PEX13c.703C>G (p.Pro235Ala)
c.586C>G (p.Pro196Ala)
2g.61032029C>TCA346944509PEX13c.703C>T (p.Pro235Ser)
c.586C>T (p.Pro196Ser)
2g.61032030C>ACA346944512PEX13c.704C>A (p.Pro235Gln)
c.587C>A (p.Pro196Gln)
2g.61032030C>GCA346944513PEX13c.704C>G (p.Pro235Arg)
c.587C>G (p.Pro196Arg)
2g.61032030C>TCA346944514PEX13c.704C>T (p.Pro235Leu)
c.587C>T (p.Pro196Leu)
2g.61032031A=CA1255168222PEX13c.705A= (p.Pro235=)
c.588A= (p.Pro196=)
2g.61032031A>CCA426411829PEX13c.705A>C (p.Pro235=)
c.588A>C (p.Pro196=)
2g.61032031A>GCA48342593PEX13c.705A>G (p.Pro235=)
c.588A>G (p.Pro196=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.61032031A>TCA426411832PEX13c.705A>T (p.Pro235=)
c.588A>T (p.Pro196=)
 ClinVar
2g.61032032A=CA1255168223PEX13c.706A= (p.Ile236=)
c.589A= (p.Ile197=)
2g.61032032A>CCA346944518PEX13c.706A>C (p.Ile236Leu)
c.589A>C (p.Ile197Leu)
2g.61032032A>GCA346944522PEX13c.706A>G (p.Ile236Val)
c.589A>G (p.Ile197Val)
 ClinVar dbSNP gnomAD v4
2g.61032032A>TCA346944524PEX13c.706A>T (p.Ile236Leu)
c.589A>T (p.Ile197Leu)
2g.61032033T>ACA346944534PEX13c.707T>A (p.Ile236Lys)
c.590T>A (p.Ile197Lys)
2g.61032033T>CCA346944539PEX13c.707T>C (p.Ile236Thr)
c.590T>C (p.Ile197Thr)
2g.61032033T>GCA346944536PEX13c.707T>G (p.Ile236Arg)
c.590T>G (p.Ile197Arg)
2g.61032034A>CCA426411837PEX13c.708A>C (p.Ile236=)
c.591A>C (p.Ile197=)
2g.61032034A>GCA346944540PEX13c.708A>G (p.Ile236Met)
c.591A>G (p.Ile197Met)
 gnomAD v4
2g.61032034A>TCA426411834PEX13c.708A>T (p.Ile236=)
c.591A>T (p.Ile197=)
2g.61032035T>ACA346944542PEX13c.709T>A (p.Phe237Ile)
c.592T>A (p.Phe198Ile)
2g.61032035T>CCA346944543PEX13c.709T>C (p.Phe237Leu)
c.592T>C (p.Phe198Leu)
2g.61032035T>GCA346944545PEX13c.709T>G (p.Phe237Val)
c.592T>G (p.Phe198Val)
2g.61032036T>ACA346944548PEX13c.710T>A (p.Phe237Tyr)
c.593T>A (p.Phe198Tyr)
2g.61032036T>CCA346944550PEX13c.710T>C (p.Phe237Ser)
c.593T>C (p.Phe198Ser)
 gnomAD v4
2g.61032036T>GCA346944549PEX13c.710T>G (p.Phe237Cys)
c.593T>G (p.Phe198Cys)
2g.61032037C>ACA346944551PEX13c.711C>A (p.Phe237Leu)
c.594C>A (p.Phe198Leu)
2g.61032037C=CA1255168224PEX13c.711C= (p.Phe237=)
c.594C= (p.Phe198=)
2g.61032037C>GCA346944554PEX13c.711C>G (p.Phe237Leu)
c.594C>G (p.Phe198Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.61032037C>TCA426411839PEX13c.711C>T (p.Phe237=)
c.594C>T (p.Phe198=)
2g.61032038T>ACA346944560PEX13c.712T>A (p.Leu238Met)
c.595T>A (p.Leu199Met)
2g.61032038T>CCA426411843PEX13c.712T>C (p.Leu238=)
c.595T>C (p.Leu199=)
2g.61032038T>GCA346944562PEX13c.712T>G (p.Leu238Val)
c.595T>G (p.Leu199Val)
 ClinVar dbSNP gnomAD v4
2g.61032038T=CA1255168225PEX13c.712T= (p.Leu238=)
c.595T= (p.Leu199=)
2g.61032039T>ACA346944567PEX13c.713T>A (p.Leu238Ter)
c.596T>A (p.Leu199Ter)
2g.61032039T>CCA346944572PEX13c.713T>C (p.Leu238Ser)
c.596T>C (p.Leu199Ser)
2g.61032039T>GCA346944570PEX13c.713T>G (p.Leu238Trp)
c.596T>G (p.Leu199Trp)
2g.61032040G>ACA426411844PEX13c.714G>A (p.Leu238=)
c.597G>A (p.Leu199=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.61032040G>CCA346944577PEX13c.714G>C (p.Leu238Phe)
c.597G>C (p.Leu199Phe)
2g.61032040G=CA1255168226PEX13c.714G= (p.Leu238=)
c.597G= (p.Leu199=)
2g.61032040G>TCA346944578PEX13c.714G>T (p.Leu238Phe)
c.597G>T (p.Leu199Phe)
 gnomAD v4
2g.61032041T>ACA346944581PEX13c.715T>A (p.Phe239Ile)
c.598T>A (p.Phe200Ile)
2g.61032041T>CCA346944582PEX13c.715T>C (p.Phe239Leu)
c.598T>C (p.Phe200Leu)
2g.61032041T>GCA346944584PEX13c.715T>G (p.Phe239Val)
c.598T>G (p.Phe200Val)
2g.61032042T>ACA346944594PEX13c.716T>A (p.Phe239Tyr)
c.599T>A (p.Phe200Tyr)
2g.61032042T>CCA1673337PEX13c.716T>C (p.Phe239Ser)
c.599T>C (p.Phe200Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched