Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.136869831_136869927dupCA1094889794PEX7c.634-59_671dup
c.322-59_359dup
c.520-59_557dup
c.639-59_676dup
c.514-59_551dup
c.340-59_377dup
c.526+23650_526+23746dup (n.526+23650_526+23746dup)
 gnomAD v3 gnomAD v4
6g.136869898G>ACA452227863PEX7c.642G>A (p.Leu214=)
c.330G>A
c.528G>A (p.Leu176=)
c.647G>A (n.647G>A)
c.522G>A (p.Leu174=)
c.348G>A (p.Leu116=)
c.526+23717G>A (n.526+23717G>A)
6g.136869898G>CCA452227861PEX7c.642G>C (p.Leu214=)
c.330G>C
c.528G>C (p.Leu176=)
c.647G>C (n.647G>C)
c.522G>C (p.Leu174=)
c.348G>C (p.Leu116=)
c.526+23717G>C (n.526+23717G>C)
 dbSNP
6g.136869898G>TCA452227862PEX7c.642G>T (p.Leu214=)
c.330G>T
c.528G>T (p.Leu176=)
c.647G>T (n.647G>T)
c.522G>T (p.Leu174=)
c.348G>T (p.Leu116=)
c.526+23717G>T (n.526+23717G>T)
6g.136869899G>ACA365763945PEX7c.643G>A (p.Val215Met)
c.331G>A
c.529G>A (p.Val177Met)
c.648G>A (n.648G>A)
c.523G>A (p.Val175Met)
c.349G>A (p.Val117Met)
c.526+23718G>A (n.526+23718G>A)
6g.136869899G>CCA365763946PEX7c.643G>C (p.Val215Leu)
c.331G>C
c.529G>C (p.Val177Leu)
c.648G>C (n.648G>C)
c.523G>C (p.Val175Leu)
c.349G>C (p.Val117Leu)
c.526+23718G>C (n.526+23718G>C)
 gnomAD v4
6g.136869899G>TCA365763947PEX7c.643G>T (p.Val215Leu)
c.331G>T
c.529G>T (p.Val177Leu)
c.648G>T (n.648G>T)
c.523G>T (p.Val175Leu)
c.349G>T (p.Val117Leu)
c.526+23718G>T (n.526+23718G>T)
6g.136869900T>ACA365763948PEX7c.644T>A (p.Val215Glu)
c.332T>A
c.530T>A (p.Val177Glu)
c.649T>A (n.649T>A)
c.524T>A (p.Val175Glu)
c.350T>A (p.Val117Glu)
c.526+23719T>A (n.526+23719T>A)
6g.136869900T>CCA365763949PEX7c.644T>C (p.Val215Ala)
c.332T>C
c.530T>C (p.Val177Ala)
c.649T>C (n.649T>C)
c.524T>C (p.Val175Ala)
c.350T>C (p.Val117Ala)
c.526+23719T>C (n.526+23719T>C)
6g.136869900T>GCA365763950PEX7c.644T>G (p.Val215Gly)
c.332T>G
c.530T>G (p.Val177Gly)
c.649T>G (n.649T>G)
c.524T>G (p.Val175Gly)
c.350T>G (p.Val117Gly)
c.526+23719T>G (n.526+23719T>G)
6g.136869901G>ACA452227864PEX7c.645G>A (p.Val215=)
c.333G>A
c.531G>A (p.Val177=)
c.650G>A (n.650G>A)
c.525G>A (p.Val175=)
c.351G>A (p.Val117=)
c.526+23720G>A (n.526+23720G>A)
6g.136869901G>CCA452227865PEX7c.645G>C (p.Val215=)
c.333G>C
c.531G>C (p.Val177=)
c.650G>C (n.650G>C)
c.525G>C (p.Val175=)
c.351G>C (p.Val117=)
c.526+23720G>C (n.526+23720G>C)
6g.136869901G>TCA452227866PEX7c.645G>T (p.Val215=)
c.333G>T
c.531G>T (p.Val177=)
c.650G>T (n.650G>T)
c.525G>T (p.Val175=)
c.351G>T (p.Val117=)
c.526+23720G>T (n.526+23720G>T)
 gnomAD v4
6g.136869902A>CCA365763951PEX7c.646A>C (p.Thr216Pro)
c.334A>C
c.532A>C (p.Thr178Pro)
c.651A>C (n.651A>C)
c.526A>C (p.Thr176Pro)
c.352A>C (p.Thr118Pro)
c.526+23721A>C (n.526+23721A>C)
6g.136869902A>GCA365763952PEX7c.646A>G (p.Thr216Ala)
c.334A>G
c.532A>G (p.Thr178Ala)
c.651A>G (n.651A>G)
c.526A>G (p.Thr176Ala)
c.352A>G (p.Thr118Ala)
c.526+23721A>G (n.526+23721A>G)
6g.136869902A>TCA365763953PEX7c.646A>T (p.Thr216Ser)
c.334A>T
c.532A>T (p.Thr178Ser)
c.651A>T (n.651A>T)
c.526A>T (p.Thr176Ser)
c.352A>T (p.Thr118Ser)
c.526+23721A>T (n.526+23721A>T)
6g.136869903C>ACA365763954PEX7c.647C>A (p.Thr216Asn)
c.335C>A
c.533C>A (p.Thr178Asn)
c.652C>A (n.652C>A)
c.527C>A (p.Thr176Asn)
c.353C>A (p.Thr118Asn)
c.526+23722C>A (n.526+23722C>A)
6g.136869903C>GCA365763955PEX7c.647C>G (p.Thr216Ser)
c.335C>G
c.533C>G (p.Thr178Ser)
c.652C>G (n.652C>G)
c.527C>G (p.Thr176Ser)
c.353C>G (p.Thr118Ser)
c.526+23722C>G (n.526+23722C>G)
6g.136869903C>TCA365763956PEX7c.647C>T (p.Thr216Ile)
c.335C>T
c.533C>T (p.Thr178Ile)
c.652C>T (n.652C>T)
c.527C>T (p.Thr176Ile)
c.353C>T (p.Thr118Ile)
c.526+23722C>T (n.526+23722C>T)
6g.136869904C>ACA452227867PEX7c.648C>A (p.Thr216=)
c.336C>A
c.534C>A (p.Thr178=)
c.653C>A (n.653C>A)
c.528C>A (p.Thr176=)
c.354C>A (p.Thr118=)
c.526+23723C>A (n.526+23723C>A)
6g.136869904C>GCA452227868PEX7c.648C>G (p.Thr216=)
c.336C>G
c.534C>G (p.Thr178=)
c.653C>G (n.653C>G)
c.528C>G (p.Thr176=)
c.354C>G (p.Thr118=)
c.526+23723C>G (n.526+23723C>G)
 ClinVar dbSNP
6g.136869904C>TCA4017686PEX7c.648C>T (p.Thr216=)
c.336C>T
c.534C>T (p.Thr178=)
c.653C>T (n.653C>T)
c.528C>T (p.Thr176=)
c.354C>T (p.Thr118=)
c.526+23723C>T (n.526+23723C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136869905G>ACA340700PEX7c.649G>A (p.Gly217Arg)
c.337G>A
c.535G>A (p.Gly179Arg)
c.654G>A (n.654G>A)
c.529G>A (p.Gly177Arg)
c.355G>A (p.Gly119Arg)
c.526+23724G>A (n.526+23724G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.136869905G>CCA365763958PEX7c.649G>C (p.Gly217Arg)
c.337G>C
c.535G>C (p.Gly179Arg)
c.654G>C (n.654G>C)
c.529G>C (p.Gly177Arg)
c.355G>C (p.Gly119Arg)
c.526+23724G>C (n.526+23724G>C)
6g.136869905G>TCA365763957PEX7c.649G>T (p.Gly217Trp)
c.337G>T
c.535G>T (p.Gly179Trp)
c.654G>T (n.654G>T)
c.529G>T (p.Gly177Trp)
c.355G>T (p.Gly119Trp)
c.526+23724G>T (n.526+23724G>T)
6g.136869908delCA2580075139PEX7c.652del (p.Ala218ArgfsTer6)
c.340del
c.538del (p.Ala180ArgfsTer6)
c.657del (n.657del)
c.532del (p.Ala178ArgfsTer6)
c.358del (p.Ala120ArgfsTer6)
c.526+23727del (n.526+23727del)
 ClinVar gnomAD v4
6g.136869906G>ACA365763959PEX7c.650G>A (p.Gly217Glu)
c.338G>A
c.536G>A (p.Gly179Glu)
c.655G>A (n.655G>A)
c.530G>A (p.Gly177Glu)
c.356G>A (p.Gly119Glu)
c.526+23725G>A (n.526+23725G>A)
 ClinVar
6g.136869906G>CCA365763960PEX7c.650G>C (p.Gly217Ala)
c.338G>C
c.536G>C (p.Gly179Ala)
c.655G>C (n.655G>C)
c.530G>C (p.Gly177Ala)
c.356G>C (p.Gly119Ala)
c.526+23725G>C (n.526+23725G>C)
6g.136869906G>TCA365763961PEX7c.650G>T (p.Gly217Val)
c.338G>T
c.536G>T (p.Gly179Val)
c.655G>T (n.655G>T)
c.530G>T (p.Gly177Val)
c.356G>T (p.Gly119Val)
c.526+23725G>T (n.526+23725G>T)
6g.136869907G>ACA452227869PEX7c.651G>A (p.Gly217=)
c.339G>A
c.537G>A (p.Gly179=)
c.656G>A (n.656G>A)
c.531G>A (p.Gly177=)
c.357G>A (p.Gly119=)
c.526+23726G>A (n.526+23726G>A)
 gnomAD v4
6g.136869907G>CCA452227870PEX7c.651G>C (p.Gly217=)
c.339G>C
c.537G>C (p.Gly179=)
c.656G>C (n.656G>C)
c.531G>C (p.Gly177=)
c.357G>C (p.Gly119=)
c.526+23726G>C (n.526+23726G>C)
6g.136869907G>TCA452227871PEX7c.651G>T (p.Gly217=)
c.339G>T
c.537G>T (p.Gly179=)
c.656G>T (n.656G>T)
c.531G>T (p.Gly177=)
c.357G>T (p.Gly119=)
c.526+23726G>T (n.526+23726G>T)
6g.136869908G>ACA365763962PEX7c.652G>A (p.Ala218Thr)
c.340G>A
c.538G>A (p.Ala180Thr)
c.657G>A (n.657G>A)
c.532G>A (p.Ala178Thr)
c.358G>A (p.Ala120Thr)
c.526+23727G>A (n.526+23727G>A)
6g.136869908G>CCA365763963PEX7c.652G>C (p.Ala218Pro)
c.340G>C
c.538G>C (p.Ala180Pro)
c.657G>C (n.657G>C)
c.532G>C (p.Ala178Pro)
c.358G>C (p.Ala120Pro)
c.526+23727G>C (n.526+23727G>C)
6g.136869908G>TCA365763964PEX7c.652G>T (p.Ala218Ser)
c.340G>T
c.538G>T (p.Ala180Ser)
c.657G>T (n.657G>T)
c.532G>T (p.Ala178Ser)
c.358G>T (p.Ala120Ser)
c.526+23727G>T (n.526+23727G>T)
6g.136869909C>ACA365763965PEX7c.653C>A (p.Ala218Glu)
c.341C>A
c.539C>A (p.Ala180Glu)
c.658C>A (n.658C>A)
c.533C>A (p.Ala178Glu)
c.359C>A (p.Ala120Glu)
c.526+23728C>A (n.526+23728C>A)
 gnomAD v4
6g.136869909C>GCA365763966PEX7c.653C>G (p.Ala218Gly)
c.341C>G
c.539C>G (p.Ala180Gly)
c.658C>G (n.658C>G)
c.533C>G (p.Ala178Gly)
c.359C>G (p.Ala120Gly)
c.526+23728C>G (n.526+23728C>G)
6g.136869909C>TCA130482PEX7c.653C>T (p.Ala218Val)
c.341C>T
c.539C>T (p.Ala180Val)
c.658C>T (n.658C>T)
c.533C>T (p.Ala178Val)
c.359C>T (p.Ala120Val)
c.526+23728C>T (n.526+23728C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.136869910G>ACA452227872PEX7c.654G>A (p.Ala218=)
c.342G>A
c.540G>A (p.Ala180=)
c.659G>A (n.659G>A)
c.534G>A (p.Ala178=)
c.360G>A (p.Ala120=)
c.526+23729G>A (n.526+23729G>A)
 ClinVar dbSNP gnomAD v4 COSMIC
6g.136869910G>CCA452227873PEX7c.654G>C (p.Ala218=)
c.342G>C
c.540G>C (p.Ala180=)
c.659G>C (n.659G>C)
c.534G>C (p.Ala178=)
c.360G>C (p.Ala120=)
c.526+23729G>C (n.526+23729G>C)
6g.136869910G>TCA452227874PEX7c.654G>T (p.Ala218=)
c.342G>T
c.540G>T (p.Ala180=)
c.659G>T (n.659G>T)
c.534G>T (p.Ala178=)
c.360G>T (p.Ala120=)
c.526+23729G>T (n.526+23729G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.136869911G>ACA4017688PEX7c.655G>A (p.Val219Ile)
c.343G>A
c.541G>A (p.Val181Ile)
c.660G>A (n.660G>A)
c.535G>A (p.Val179Ile)
c.361G>A (p.Val121Ile)
c.526+23730G>A (n.526+23730G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136869911G>CCA365763967PEX7c.655G>C (p.Val219Leu)
c.343G>C
c.541G>C (p.Val181Leu)
c.660G>C (n.660G>C)
c.535G>C (p.Val179Leu)
c.361G>C (p.Val121Leu)
c.526+23730G>C (n.526+23730G>C)
6g.136869911G>TCA4017687PEX7c.655G>T (p.Val219Phe)
c.343G>T
c.541G>T (p.Val181Phe)
c.660G>T (n.660G>T)
c.535G>T (p.Val179Phe)
c.361G>T (p.Val121Phe)
c.526+23730G>T (n.526+23730G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136869912T>ACA365763970PEX7c.656T>A (p.Val219Asp)
c.344T>A
c.542T>A (p.Val181Asp)
c.661T>A (n.661T>A)
c.536T>A (p.Val179Asp)
c.362T>A (p.Val121Asp)
c.526+23731T>A (n.526+23731T>A)
6g.136869912T>CCA365763968PEX7c.656T>C (p.Val219Ala)
c.344T>C
c.542T>C (p.Val181Ala)
c.661T>C (n.661T>C)
c.536T>C (p.Val179Ala)
c.362T>C (p.Val121Ala)
c.526+23731T>C (n.526+23731T>C)
 dbSNP
6g.136869912T>GCA365763969PEX7c.656T>G (p.Val219Gly)
c.344T>G
c.542T>G (p.Val181Gly)
c.661T>G (n.661T>G)
c.536T>G (p.Val179Gly)
c.362T>G (p.Val121Gly)
c.526+23731T>G (n.526+23731T>G)
6g.136869913T>ACA452227875PEX7c.657T>A (p.Val219=)
c.345T>A
c.543T>A (p.Val181=)
c.662T>A (n.662T>A)
c.537T>A (p.Val179=)
c.363T>A (p.Val121=)
c.526+23732T>A (n.526+23732T>A)
 COSMIC
6g.136869913T>CCA452227876PEX7c.657T>C (p.Val219=)
c.345T>C
c.543T>C (p.Val181=)
c.662T>C (n.662T>C)
c.537T>C (p.Val179=)
c.363T>C (p.Val121=)
c.526+23732T>C (n.526+23732T>C)
6g.136869913T>GCA452227877PEX7c.657T>G (p.Val219=)
c.345T>G
c.543T>G (p.Val181=)
c.662T>G (n.662T>G)
c.537T>G (p.Val179=)
c.363T>G (p.Val121=)
c.526+23732T>G (n.526+23732T>G)

Number of alleles fetched