Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.92517348_92518796delCA916082939PEX1c.357+202_1170del
n.357+202_1170del
c.273+3309_274-3378del (p.=)
n.396+167_1209del
c.-268+167_546del
n.453+202_1266del
n.404+202_1217del
ClinVar
7g.92518156T>ACA161974065PEX1c.457A>T (p.Ile153Leu)
n.457A>T (p.Ile153Leu)
c.273+3946A>T (p.=)
n.496A>T
c.-168A>T (p.=)
n.553A>T
n.504A>T
dbSNP
7g.92518156T>CCA161974068PEX1c.457A>G (p.Ile153Val)
n.457A>G (p.Ile153Val)
c.273+3946A>G (p.=)
n.496A>G
c.-168A>G (p.=)
n.553A>G
n.504A>G
ClinVar dbSNP
7g.92518156T>GCA368202069PEX1c.457A>C (p.Ile153Leu)
n.457A>C (p.Ile153Leu)
c.273+3946A>C (p.=)
n.496A>C
c.-168A>C (p.=)
n.553A>C
n.504A>C
7g.92518156T=CA1725948459PEX1c.457A= (p.Ile153=)
n.457A= (p.Ile153=)
c.273+3946A= (p.=)
n.496A=
c.-168A= (p.=)
n.553A=
n.504A=
7g.92518157G>ACA456483943PEX1c.456C>T (p.Tyr152=)
n.456C>T (p.Tyr152=)
c.273+3945C>T (p.=)
n.495C>T
c.-169C>T (p.=)
n.552C>T
n.503C>T
7g.92518157G>CCA368202072PEX1c.456C>G (p.Tyr152Ter)
n.456C>G (p.Tyr152Ter)
c.273+3945C>G (p.=)
n.495C>G
c.-169C>G (p.=)
n.552C>G
n.503C>G
7g.92518157G>TCA368202073PEX1c.456C>A (p.Tyr152Ter)
n.456C>A (p.Tyr152Ter)
c.273+3945C>A (p.=)
n.495C>A
c.-169C>A (p.=)
n.552C>A
n.503C>A
7g.92518158T>ACA368202076PEX1c.455A>T (p.Tyr152Phe)
n.455A>T (p.Tyr152Phe)
c.273+3944A>T (p.=)
n.494A>T
c.-170A>T (p.=)
n.551A>T
n.502A>T
7g.92518158T>CCA368202078PEX1c.455A>G (p.Tyr152Cys)
n.455A>G (p.Tyr152Cys)
c.273+3944A>G (p.=)
n.494A>G
c.-170A>G (p.=)
n.551A>G
n.502A>G
ClinVar
7g.92518158T>GCA368202080PEX1c.455A>C (p.Tyr152Ser)
n.455A>C (p.Tyr152Ser)
c.273+3944A>C (p.=)
n.494A>C
c.-170A>C (p.=)
n.551A>C
n.502A>C
7g.92518158T=CA1725948465PEX1c.455A= (p.Tyr152=)
n.455A= (p.Tyr152=)
c.273+3944A= (p.=)
n.494A=
c.-170A= (p.=)
n.551A=
n.502A=
7g.92518159A>CCA368202084PEX1c.454T>G (p.Tyr152Asp)
n.454T>G (p.Tyr152Asp)
c.273+3943T>G (p.=)
n.493T>G
c.-171T>G (p.=)
n.550T>G
n.501T>G
7g.92518159A>GCA368202087PEX1c.454T>C (p.Tyr152His)
n.454T>C (p.Tyr152His)
c.273+3943T>C (p.=)
n.493T>C
c.-171T>C (p.=)
n.550T>C
n.501T>C
7g.92518159A>TCA368202088PEX1c.454T>A (p.Tyr152Asn)
n.454T>A (p.Tyr152Asn)
c.273+3943T>A (p.=)
n.493T>A
c.-171T>A (p.=)
n.550T>A
n.501T>A
7g.92518160C>ACA456483944PEX1c.453G>T (p.Thr151=)
n.453G>T (p.Thr151=)
c.273+3942G>T (p.=)
n.492G>T
c.-172G>T (p.=)
n.549G>T
n.500G>T
7g.92518160C=CA1725948467PEX1c.453G= (p.Thr151=)
n.453G= (p.Thr151=)
c.273+3942G= (p.=)
n.492G=
c.-172G= (p.=)
n.549G=
n.500G=
7g.92518160C>GCA456483945PEX1c.453G>C (p.Thr151=)
n.453G>C (p.Thr151=)
c.273+3942G>C (p.=)
n.492G>C
c.-172G>C (p.=)
n.549G>C
n.500G>C
gnomAD
7g.92518160C>TCA4341606PEX1c.453G>A (p.Thr151=)
n.453G>A (p.Thr151=)
c.273+3942G>A (p.=)
n.492G>A
c.-172G>A (p.=)
n.549G>A
n.500G>A
ClinVar dbSNP ExAC gnomAD COSMIC
7g.92518161G>ACA4341607PEX1c.452C>T (p.Thr151Met)
n.452C>T (p.Thr151Met)
c.273+3941C>T (p.=)
n.491C>T
c.-173C>T (p.=)
n.548C>T
n.499C>T
dbSNP ExAC gnomAD COSMIC
7g.92518161G>CCA4341608PEX1c.452C>G (p.Thr151Arg)
n.452C>G (p.Thr151Arg)
c.273+3941C>G (p.=)
n.491C>G
c.-173C>G (p.=)
n.548C>G
n.499C>G
dbSNP ExAC gnomAD
7g.92518161G=CA1725948470PEX1c.452C= (p.Thr151=)
n.452C= (p.Thr151=)
c.273+3941C= (p.=)
n.491C=
c.-173C= (p.=)
n.548C=
n.499C=
7g.92518161G>TCA368202093PEX1c.452C>A (p.Thr151Lys)
n.452C>A (p.Thr151Lys)
c.273+3941C>A (p.=)
n.491C>A
c.-173C>A (p.=)
n.548C>A
n.499C>A
7g.92518162T>ACA368202099PEX1c.451A>T (p.Thr151Ser)
n.451A>T (p.Thr151Ser)
c.273+3940A>T (p.=)
n.490A>T
c.-174A>T (p.=)
n.547A>T
n.498A>T
7g.92518162T>CCA368202100PEX1c.451A>G (p.Thr151Ala)
n.451A>G (p.Thr151Ala)
c.273+3940A>G (p.=)
n.490A>G
c.-174A>G (p.=)
n.547A>G
n.498A>G
7g.92518162T>GCA368202103PEX1c.451A>C (p.Thr151Pro)
n.451A>C (p.Thr151Pro)
c.273+3940A>C (p.=)
n.490A>C
c.-174A>C (p.=)
n.547A>C
n.498A>C
7g.92518163T>ACA368202105PEX1c.450A>T (p.Gln150His)
n.450A>T (p.Gln150His)
c.273+3939A>T (p.=)
n.489A>T
c.-175A>T (p.=)
n.546A>T
n.497A>T
7g.92518163T>CCA456483946PEX1c.450A>G (p.Gln150=)
n.450A>G (p.Gln150=)
c.273+3939A>G (p.=)
n.489A>G
c.-175A>G (p.=)
n.546A>G
n.497A>G
7g.92518163T>GCA368202106PEX1c.450A>C (p.Gln150His)
n.450A>C (p.Gln150His)
c.273+3939A>C (p.=)
n.489A>C
c.-175A>C (p.=)
n.546A>C
n.497A>C
7g.92518164T>ACA368202109PEX1c.449A>T (p.Gln150Leu)
n.449A>T (p.Gln150Leu)
c.273+3938A>T (p.=)
n.488A>T
c.-176A>T (p.=)
n.545A>T
n.496A>T
7g.92518164T>CCA368202111PEX1c.449A>G (p.Gln150Arg)
n.449A>G (p.Gln150Arg)
c.273+3938A>G (p.=)
n.488A>G
c.-176A>G (p.=)
n.545A>G
n.496A>G
7g.92518164T>GCA368202113PEX1c.449A>C (p.Gln150Pro)
n.449A>C (p.Gln150Pro)
c.273+3938A>C (p.=)
n.488A>C
c.-176A>C (p.=)
n.545A>C
n.496A>C
7g.92518164_92518165delinsTGCA1725948475PEX1c.448_449delinsCA (p.Gln150=)
n.448_449delinsCA (p.Gln150=)
c.273+3937_273+3938delinsCA (p.=)
n.487_488delinsCA
c.-177_-176delinsCA (p.=)
n.544_545delinsCA
n.495_496delinsCA
7g.92518164_92518179delinsTGTTGATCAACCCAAACA1725948474PEX1c.434_449delinsTTTGGGTTGATCAACA (p.Val145=)
n.434_449delinsTTTGGGTTGATCAACA (p.Val145=)
c.273+3923_273+3938delinsTTTGGGTTGATCAACA (p.=)
n.473_488delinsTTTGGGTTGATCAACA
c.-191_-176delinsTTTGGGTTGATCAACA (p.=)
n.530_545delinsTTTGGGTTGATCAACA
n.481_496delinsTTTGGGTTGATCAACA
7g.92518165delCA843847042PEX1c.448del (p.Gln150LysfsTer11)
n.448del (p.Gln150LysfsTer11)
c.273+3937del (p.=)
n.487del
c.-177del (p.=)
n.544del
n.495del
dbSNP
7g.92518165G>ACA368202117PEX1c.448C>T (p.Gln150Ter)
n.448C>T (p.Gln150Ter)
c.273+3937C>T (p.=)
n.487C>T
c.-177C>T (p.=)
n.544C>T
n.495C>T
7g.92518165G>CCA368202120PEX1c.448C>G (p.Gln150Glu)
n.448C>G (p.Gln150Glu)
c.273+3937C>G (p.=)
n.487C>G
c.-177C>G (p.=)
n.544C>G
n.495C>G
7g.92518165G>TCA368202121PEX1c.448C>A (p.Gln150Lys)
n.448C>A (p.Gln150Lys)
c.273+3937C>A (p.=)
n.487C>A
c.-177C>A (p.=)
n.544C>A
n.495C>A
7g.92518165_92518179delinsTTGCCA161974100PEX1c.434_448delinsGCAA (p.Val145GlyfsTer24)
n.434_448delinsGCAA (p.Val145GlyfsTer24)
c.273+3923_273+3937delinsGCAA (p.=)
n.473_487delinsGCAA
c.-191_-177delinsGCAA (p.=)
n.530_544delinsGCAA
n.481_495delinsGCAA
dbSNP
7g.92518166T>ACA368202123PEX1c.447A>T (p.Gln149His)
n.447A>T (p.Gln149His)
c.273+3936A>T (p.=)
n.486A>T
c.-178A>T (p.=)
n.543A>T
n.494A>T
COSMIC
7g.92518166T>CCA161974105PEX1c.447A>G (p.Gln149=)
n.447A>G (p.Gln149=)
c.273+3936A>G (p.=)
n.486A>G
c.-178A>G (p.=)
n.543A>G
n.494A>G
dbSNP gnomAD
7g.92518166T>GCA368202125PEX1c.447A>C (p.Gln149His)
n.447A>C (p.Gln149His)
c.273+3936A>C (p.=)
n.486A>C
c.-178A>C (p.=)
n.543A>C
n.494A>C
7g.92518166T=CA1725948480PEX1c.447A= (p.Gln149=)
n.447A= (p.Gln149=)
c.273+3936A= (p.=)
n.486A=
c.-178A= (p.=)
n.543A=
n.494A=
7g.92518167T>ACA368202131PEX1c.446A>T (p.Gln149Leu)
n.446A>T (p.Gln149Leu)
c.273+3935A>T (p.=)
n.485A>T
c.-179A>T (p.=)
n.542A>T
n.493A>T
7g.92518167T>CCA4341609PEX1c.446A>G (p.Gln149Arg)
n.446A>G (p.Gln149Arg)
c.273+3935A>G (p.=)
n.485A>G
c.-179A>G (p.=)
n.542A>G
n.493A>G
dbSNP ExAC gnomAD
7g.92518167T>GCA368202128PEX1c.446A>C (p.Gln149Pro)
n.446A>C (p.Gln149Pro)
c.273+3935A>C (p.=)
n.485A>C
c.-179A>C (p.=)
n.542A>C
n.493A>C
7g.92518167T=CA1725948483PEX1c.446A= (p.Gln149=)
n.446A= (p.Gln149=)
c.273+3935A= (p.=)
n.485A=
c.-179A= (p.=)
n.542A=
n.493A=
7g.92518168G>ACA368202139PEX1c.445C>T (p.Gln149Ter)
n.445C>T (p.Gln149Ter)
c.273+3934C>T (p.=)
n.484C>T
c.-180C>T (p.=)
n.541C>T
n.492C>T
7g.92518168G>CCA368202135PEX1c.445C>G (p.Gln149Glu)
n.445C>G (p.Gln149Glu)
c.273+3934C>G (p.=)
n.484C>G
c.-180C>G (p.=)
n.541C>G
n.492C>G
7g.92518168G=CA1725948487PEX1c.445C= (p.Gln149=)
n.445C= (p.Gln149=)
c.273+3934C= (p.=)
n.484C=
c.-180C= (p.=)
n.541C=
n.492C=

Number of alleles fetched