Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.61031928T>ACA346944002PEX13c.602T>A (p.Leu201Ter)
c.485T>A (p.Leu162Ter)
2g.61031928T>CCA346944005PEX13c.602T>C (p.Leu201Ser)
c.485T>C (p.Leu162Ser)
2g.61031928T>GCA346944004PEX13c.602T>G (p.Leu201Ter)
c.485T>G (p.Leu162Ter)
2g.61031929A>CCA346944007PEX13c.603A>C (p.Leu201Phe)
c.486A>C (p.Leu162Phe)
2g.61031929A>GCA426411717PEX13c.603A>G (p.Leu201=)
c.486A>G (p.Leu162=)
2g.61031929A>TCA346944009PEX13c.603A>T (p.Leu201Phe)
c.486A>T (p.Leu162Phe)
2g.61031933_61031935delCA2659190625PEX13c.607_609del (p.Arg203del)
c.490_492del (p.Arg164del)
 gnomAD v4
2g.61031930A=CA1255168181PEX13c.604A= (p.Arg202=)
c.487A= (p.Arg163=)
2g.61031930A>CCA426411719PEX13c.604A>C (p.Arg202=)
c.487A>C (p.Arg163=)
2g.61031930A>GCA346944011PEX13c.604A>G (p.Arg202Gly)
c.487A>G (p.Arg163Gly)
2g.61031930A>TCA346944013PEX13c.604A>T (p.Arg202Ter)
c.487A>T (p.Arg163Ter)
 dbSNP
2g.61031931G>ACA346944015PEX13c.605G>A (p.Arg202Lys)
c.488G>A (p.Arg163Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.61031931G>CCA346944017PEX13c.605G>C (p.Arg202Thr)
c.488G>C (p.Arg163Thr)
 gnomAD v4
2g.61031931G=CA1255168182PEX13c.605G= (p.Arg202=)
c.488G= (p.Arg163=)
2g.61031931G>TCA346944019PEX13c.605G>T (p.Arg202Ile)
c.488G>T (p.Arg163Ile)
2g.61031932A>CCA346944021PEX13c.606A>C (p.Arg202Ser)
c.489A>C (p.Arg163Ser)
2g.61031932A>GCA426411720PEX13c.606A>G (p.Arg202=)
c.489A>G (p.Arg163=)
2g.61031932A>TCA346944023PEX13c.606A>T (p.Arg202Ser)
c.489A>T (p.Arg163Ser)
2g.61031933A=CA1255168183PEX13c.607A= (p.Arg203=)
c.490A= (p.Arg164=)
2g.61031933A>CCA426411722PEX13c.607A>C (p.Arg203=)
c.490A>C (p.Arg164=)
2g.61031933A>GCA1673323PEX13c.607A>G (p.Arg203Gly)
c.490A>G (p.Arg164Gly)
 dbSNP ExAC gnomAD v2
2g.61031933A>TCA346944026PEX13c.607A>T (p.Arg203Ter)
c.490A>T (p.Arg164Ter)
2g.61031934G>ACA346944028PEX13c.608G>A (p.Arg203Lys)
c.491G>A (p.Arg164Lys)
2g.61031934G>CCA346944030PEX13c.608G>C (p.Arg203Thr)
c.491G>C (p.Arg164Thr)
2g.61031934G>TCA346944032PEX13c.608G>T (p.Arg203Ile)
c.491G>T (p.Arg164Ile)
2g.61031935A>CCA346944036PEX13c.609A>C (p.Arg203Ser)
c.492A>C (p.Arg164Ser)
2g.61031935A>GCA426411723PEX13c.609A>G (p.Arg203=)
c.492A>G (p.Arg164=)
2g.61031935A>TCA346944034PEX13c.609A>T (p.Arg203Ser)
c.492A>T (p.Arg164Ser)
2g.61031936G>ACA346944037PEX13c.610G>A (p.Gly204Ser)
c.493G>A (p.Gly165Ser)
 ClinVar dbSNP
2g.61031936G>CCA346944039PEX13c.610G>C (p.Gly204Arg)
c.493G>C (p.Gly165Arg)
2g.61031936G>TCA346944040PEX13c.610G>T (p.Gly204Cys)
c.493G>T (p.Gly165Cys)
2g.61031937G>ACA1673324PEX13c.611G>A (p.Gly204Asp)
c.494G>A (p.Gly165Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.61031937G>CCA346944043PEX13c.611G>C (p.Gly204Ala)
c.494G>C (p.Gly165Ala)
 ClinVar gnomAD v4
2g.61031937G=CA1255168184PEX13c.611G= (p.Gly204=)
c.494G= (p.Gly165=)
2g.61031937G>TCA346944045PEX13c.611G>T (p.Gly204Val)
c.494G>T (p.Gly165Val)
2g.61031938C>ACA426411726PEX13c.612C>A (p.Gly204=)
c.495C>A (p.Gly165=)
2g.61031938C>GCA426411727PEX13c.612C>G (p.Gly204=)
c.495C>G (p.Gly165=)
2g.61031938C>TCA426411728PEX13c.612C>T (p.Gly204=)
c.495C>T (p.Gly165=)
 ClinVar dbSNP
2g.61031939T>ACA346944047PEX13c.613T>A (p.Ser205Thr)
c.496T>A (p.Ser166Thr)
2g.61031939T>CCA346944049PEX13c.613T>C (p.Ser205Pro)
c.496T>C (p.Ser166Pro)
2g.61031939T>GCA346944050PEX13c.613T>G (p.Ser205Ala)
c.496T>G (p.Ser166Ala)
2g.61031940C>ACA346944051PEX13c.614C>A (p.Ser205Tyr)
c.497C>A (p.Ser166Tyr)
2g.61031940C>GCA346944053PEX13c.614C>G (p.Ser205Cys)
c.497C>G (p.Ser166Cys)
2g.61031940C>TCA346944054PEX13c.614C>T (p.Ser205Phe)
c.497C>T (p.Ser166Phe)
2g.61031941T>ACA426411731PEX13c.615T>A (p.Ser205=)
c.498T>A (p.Ser166=)
2g.61031941T>CCA426411732PEX13c.615T>C (p.Ser205=)
c.498T>C (p.Ser166=)
2g.61031941T>GCA426411733PEX13c.615T>G (p.Ser205=)
c.498T>G (p.Ser166=)
2g.61031942G>ACA346944060PEX13c.616G>A (p.Glu206Lys)
c.499G>A (p.Glu167Lys)
 gnomAD v4
2g.61031942G>CCA346944058PEX13c.616G>C (p.Glu206Gln)
c.499G>C (p.Glu167Gln)
2g.61031942G>TCA346944057PEX13c.616G>T (p.Glu206Ter)
c.499G>T (p.Glu167Ter)

Number of alleles fetched