Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.7201756A>CCA383721141PEX5c.557A>C (p.Asp186Ala)
c.602A>C (p.Asp201Ala)
c.620A>C (p.Asp207Ala)
c.308A>C (p.Asp103Ala)
c.470A>C (p.Asp157Ala)
n.238A>C
n.372A>C
c.521A>C (p.Asp174Ala)
c.665A>C (p.Asp222Ala)
c.1001A>C (p.Asp334Ala)
n.1043A>C
12g.7201756A>GCA383721146PEX5c.557A>G (p.Asp186Gly)
c.602A>G (p.Asp201Gly)
c.620A>G (p.Asp207Gly)
c.308A>G (p.Asp103Gly)
c.470A>G (p.Asp157Gly)
n.238A>G
n.372A>G
c.521A>G (p.Asp174Gly)
c.665A>G (p.Asp222Gly)
c.1001A>G (p.Asp334Gly)
n.1043A>G
12g.7201756A>TCA383721150PEX5c.557A>T (p.Asp186Val)
c.602A>T (p.Asp201Val)
c.620A>T (p.Asp207Val)
c.308A>T (p.Asp103Val)
c.470A>T (p.Asp157Val)
n.238A>T
n.372A>T
c.521A>T (p.Asp174Val)
c.665A>T (p.Asp222Val)
c.1001A>T (p.Asp334Val)
n.1043A>T
12g.7201757T>ACA232470851PEX5c.558T>A (p.Asp186Glu)
c.603T>A (p.Asp201Glu)
c.621T>A (p.Asp207Glu)
c.309T>A (p.Asp103Glu)
c.471T>A (p.Asp157Glu)
n.239T>A
n.373T>A
c.522T>A (p.Asp174Glu)
c.666T>A (p.Asp222Glu)
c.1002T>A (p.Asp334Glu)
n.1044T>A
 dbSNP
12g.7201757T>CCA478185870PEX5c.558T>C (p.Asp186=)
c.603T>C (p.Asp201=)
c.621T>C (p.Asp207=)
c.309T>C (p.Asp103=)
c.471T>C (p.Asp157=)
n.239T>C
n.373T>C
c.522T>C (p.Asp174=)
c.666T>C (p.Asp222=)
c.1002T>C (p.Asp334=)
n.1044T>C
 ClinVar dbSNP gnomAD v4
12g.7201757T>GCA383721153PEX5c.558T>G (p.Asp186Glu)
c.603T>G (p.Asp201Glu)
c.621T>G (p.Asp207Glu)
c.309T>G (p.Asp103Glu)
c.471T>G (p.Asp157Glu)
n.239T>G
n.373T>G
c.522T>G (p.Asp174Glu)
c.666T>G (p.Asp222Glu)
c.1002T>G (p.Asp334Glu)
n.1044T>G
12g.7201757T=CA2014444904PEX5c.558T= (p.Asp186=)
c.603T= (p.Asp201=)
c.621T= (p.Asp207=)
c.309T= (p.Asp103=)
c.471T= (p.Asp157=)
n.239T=
n.373T=
c.522T= (p.Asp174=)
c.666T= (p.Asp222=)
c.1002T= (p.Asp334=)
n.1044T=
12g.7201758G>ACA383721157PEX5c.559G>A (p.Glu187Lys)
c.604G>A (p.Glu202Lys)
c.622G>A (p.Glu208Lys)
c.310G>A (p.Glu104Lys)
c.472G>A (p.Glu158Lys)
n.240G>A
n.374G>A
c.523G>A (p.Glu175Lys)
c.667G>A (p.Glu223Lys)
c.1003G>A (p.Glu335Lys)
n.1045G>A
 dbSNP gnomAD v3 gnomAD v4
12g.7201758G>CCA383721164PEX5c.559G>C (p.Glu187Gln)
c.604G>C (p.Glu202Gln)
c.622G>C (p.Glu208Gln)
c.310G>C (p.Glu104Gln)
c.472G>C (p.Glu158Gln)
n.240G>C
n.374G>C
c.523G>C (p.Glu175Gln)
c.667G>C (p.Glu223Gln)
c.1003G>C (p.Glu335Gln)
n.1045G>C
12g.7201758G=CA2014444905PEX5c.559G= (p.Glu187=)
c.604G= (p.Glu202=)
c.622G= (p.Glu208=)
c.310G= (p.Glu104=)
c.472G= (p.Glu158=)
n.240G=
n.374G=
c.523G= (p.Glu175=)
c.667G= (p.Glu223=)
c.1003G= (p.Glu335=)
n.1045G=
12g.7201758G>TCA383721168PEX5c.559G>T (p.Glu187Ter)
c.604G>T (p.Glu202Ter)
c.622G>T (p.Glu208Ter)
c.310G>T (p.Glu104Ter)
c.472G>T (p.Glu158Ter)
n.240G>T
n.374G>T
c.523G>T (p.Glu175Ter)
c.667G>T (p.Glu223Ter)
c.1003G>T (p.Glu335Ter)
n.1045G>T
12g.7201759A>CCA383721174PEX5c.560A>C (p.Glu187Ala)
c.605A>C (p.Glu202Ala)
c.623A>C (p.Glu208Ala)
c.311A>C (p.Glu104Ala)
c.473A>C (p.Glu158Ala)
n.241A>C
n.375A>C
c.524A>C (p.Glu175Ala)
c.668A>C (p.Glu223Ala)
c.1004A>C (p.Glu335Ala)
n.1046A>C
12g.7201759A>GCA383721176PEX5c.560A>G (p.Glu187Gly)
c.605A>G (p.Glu202Gly)
c.623A>G (p.Glu208Gly)
c.311A>G (p.Glu104Gly)
c.473A>G (p.Glu158Gly)
n.241A>G
n.375A>G
c.524A>G (p.Glu175Gly)
c.668A>G (p.Glu223Gly)
c.1004A>G (p.Glu335Gly)
n.1046A>G
12g.7201759A>TCA383721179PEX5c.560A>T (p.Glu187Val)
c.605A>T (p.Glu202Val)
c.623A>T (p.Glu208Val)
c.311A>T (p.Glu104Val)
c.473A>T (p.Glu158Val)
n.241A>T
n.375A>T
c.524A>T (p.Glu175Val)
c.668A>T (p.Glu223Val)
c.1004A>T (p.Glu335Val)
n.1046A>T
12g.7201760A=CA2014444906PEX5c.561A= (p.Glu187=)
c.606A= (p.Glu202=)
c.624A= (p.Glu208=)
c.312A= (p.Glu104=)
c.474A= (p.Glu158=)
n.242A=
n.376A=
c.525A= (p.Glu175=)
c.669A= (p.Glu223=)
c.1005A= (p.Glu335=)
n.1047A=
12g.7201760A>CCA383721189PEX5c.561A>C (p.Glu187Asp)
c.606A>C (p.Glu202Asp)
c.624A>C (p.Glu208Asp)
c.312A>C (p.Glu104Asp)
c.474A>C (p.Glu158Asp)
n.242A>C
n.376A>C
c.525A>C (p.Glu175Asp)
c.669A>C (p.Glu223Asp)
c.1005A>C (p.Glu335Asp)
n.1047A>C
 gnomAD v4
12g.7201760A>GCA478185874PEX5c.561A>G (p.Glu187=)
c.606A>G (p.Glu202=)
c.624A>G (p.Glu208=)
c.312A>G (p.Glu104=)
c.474A>G (p.Glu158=)
n.242A>G
n.376A>G
c.525A>G (p.Glu175=)
c.669A>G (p.Glu223=)
c.1005A>G (p.Glu335=)
n.1047A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.7201760A>TCA383721183PEX5c.561A>T (p.Glu187Asp)
c.606A>T (p.Glu202Asp)
c.624A>T (p.Glu208Asp)
c.312A>T (p.Glu104Asp)
c.474A>T (p.Glu158Asp)
n.242A>T
n.376A>T
c.525A>T (p.Glu175Asp)
c.669A>T (p.Glu223Asp)
c.1005A>T (p.Glu335Asp)
n.1047A>T
12g.7201761T>ACA383721194PEX5c.562T>A (p.Tyr188Asn)
c.607T>A (p.Tyr203Asn)
c.625T>A (p.Tyr209Asn)
c.313T>A (p.Tyr105Asn)
c.475T>A (p.Tyr159Asn)
n.243T>A
n.377T>A
c.526T>A (p.Tyr176Asn)
c.670T>A (p.Tyr224Asn)
c.1006T>A (p.Tyr336Asn)
n.1048T>A
12g.7201761T>CCA383721198PEX5c.562T>C (p.Tyr188His)
c.607T>C (p.Tyr203His)
c.625T>C (p.Tyr209His)
c.313T>C (p.Tyr105His)
c.475T>C (p.Tyr159His)
n.243T>C
n.377T>C
c.526T>C (p.Tyr176His)
c.670T>C (p.Tyr224His)
c.1006T>C (p.Tyr336His)
n.1048T>C
12g.7201761T>GCA383721201PEX5c.562T>G (p.Tyr188Asp)
c.607T>G (p.Tyr203Asp)
c.625T>G (p.Tyr209Asp)
c.313T>G (p.Tyr105Asp)
c.475T>G (p.Tyr159Asp)
n.243T>G
n.377T>G
c.526T>G (p.Tyr176Asp)
c.670T>G (p.Tyr224Asp)
c.1006T>G (p.Tyr336Asp)
n.1048T>G
12g.7201762A>CCA383721209PEX5c.563A>C (p.Tyr188Ser)
c.608A>C (p.Tyr203Ser)
c.626A>C (p.Tyr209Ser)
c.314A>C (p.Tyr105Ser)
c.476A>C (p.Tyr159Ser)
n.244A>C
n.378A>C
c.527A>C (p.Tyr176Ser)
c.671A>C (p.Tyr224Ser)
c.1007A>C (p.Tyr336Ser)
n.1049A>C
12g.7201762A>GCA383721213PEX5c.563A>G (p.Tyr188Cys)
c.608A>G (p.Tyr203Cys)
c.626A>G (p.Tyr209Cys)
c.314A>G (p.Tyr105Cys)
c.476A>G (p.Tyr159Cys)
n.244A>G
n.378A>G
c.527A>G (p.Tyr176Cys)
c.671A>G (p.Tyr224Cys)
c.1007A>G (p.Tyr336Cys)
n.1049A>G
12g.7201762A>TCA383721216PEX5c.563A>T (p.Tyr188Phe)
c.608A>T (p.Tyr203Phe)
c.626A>T (p.Tyr209Phe)
c.314A>T (p.Tyr105Phe)
c.476A>T (p.Tyr159Phe)
n.244A>T
n.378A>T
c.527A>T (p.Tyr176Phe)
c.671A>T (p.Tyr224Phe)
c.1007A>T (p.Tyr336Phe)
n.1049A>T
12g.7201763T>ACA383721221PEX5c.564T>A (p.Tyr188Ter)
c.609T>A (p.Tyr203Ter)
c.627T>A (p.Tyr209Ter)
c.315T>A (p.Tyr105Ter)
c.477T>A (p.Tyr159Ter)
n.245T>A
n.379T>A
c.528T>A (p.Tyr176Ter)
c.672T>A (p.Tyr224Ter)
c.1008T>A (p.Tyr336Ter)
n.1050T>A
12g.7201763T>CCA478185876PEX5c.564T>C (p.Tyr188=)
c.609T>C (p.Tyr203=)
c.627T>C (p.Tyr209=)
c.315T>C (p.Tyr105=)
c.477T>C (p.Tyr159=)
n.245T>C
n.379T>C
c.528T>C (p.Tyr176=)
c.672T>C (p.Tyr224=)
c.1008T>C (p.Tyr336=)
n.1050T>C
 ClinVar dbSNP
12g.7201763T>GCA383721223PEX5c.564T>G (p.Tyr188Ter)
c.609T>G (p.Tyr203Ter)
c.627T>G (p.Tyr209Ter)
c.315T>G (p.Tyr105Ter)
c.477T>G (p.Tyr159Ter)
n.245T>G
n.379T>G
c.528T>G (p.Tyr176Ter)
c.672T>G (p.Tyr224Ter)
c.1008T>G (p.Tyr336Ter)
n.1050T>G
12g.7201764C>ACA383721229PEX5c.565C>A (p.His189Asn)
c.610C>A (p.His204Asn)
c.628C>A (p.His210Asn)
c.316C>A (p.His106Asn)
c.478C>A (p.His160Asn)
n.246C>A
n.380C>A
c.529C>A (p.His177Asn)
c.673C>A (p.His225Asn)
c.1009C>A (p.His337Asn)
n.1051C>A
12g.7201764C=CA2014444907PEX5c.565C= (p.His189=)
c.610C= (p.His204=)
c.628C= (p.His210=)
c.316C= (p.His106=)
c.478C= (p.His160=)
n.246C=
n.380C=
c.529C= (p.His177=)
c.673C= (p.His225=)
c.1009C= (p.His337=)
n.1051C=
12g.7201764C>GCA383721242PEX5c.565C>G (p.His189Asp)
c.610C>G (p.His204Asp)
c.628C>G (p.His210Asp)
c.316C>G (p.His106Asp)
c.478C>G (p.His160Asp)
n.246C>G
n.380C>G
c.529C>G (p.His177Asp)
c.673C>G (p.His225Asp)
c.1009C>G (p.His337Asp)
n.1051C>G
 ClinVar dbSNP
12g.7201764C>TCA383721245PEX5c.565C>T (p.His189Tyr)
c.610C>T (p.His204Tyr)
c.628C>T (p.His210Tyr)
c.316C>T (p.His106Tyr)
c.478C>T (p.His160Tyr)
n.246C>T
n.380C>T
c.529C>T (p.His177Tyr)
c.673C>T (p.His225Tyr)
c.1009C>T (p.His337Tyr)
n.1051C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.7201765A>CCA383721251PEX5c.566A>C (p.His189Pro)
c.611A>C (p.His204Pro)
c.629A>C (p.His210Pro)
c.317A>C (p.His106Pro)
c.479A>C (p.His160Pro)
n.247A>C
n.381A>C
c.530A>C (p.His177Pro)
c.674A>C (p.His225Pro)
c.1010A>C (p.His337Pro)
n.1052A>C
 dbSNP gnomAD v4
12g.7201765A>GCA383721253PEX5c.566A>G (p.His189Arg)
c.611A>G (p.His204Arg)
c.629A>G (p.His210Arg)
c.317A>G (p.His106Arg)
c.479A>G (p.His160Arg)
n.247A>G
n.381A>G
c.530A>G (p.His177Arg)
c.674A>G (p.His225Arg)
c.1010A>G (p.His337Arg)
n.1052A>G
12g.7201765A>TCA383721256PEX5c.566A>T (p.His189Leu)
c.611A>T (p.His204Leu)
c.629A>T (p.His210Leu)
c.317A>T (p.His106Leu)
c.479A>T (p.His160Leu)
n.247A>T
n.381A>T
c.530A>T (p.His177Leu)
c.674A>T (p.His225Leu)
c.1010A>T (p.His337Leu)
n.1052A>T
12g.7201766T>ACA383721263PEX5c.567T>A (p.His189Gln)
c.612T>A (p.His204Gln)
c.630T>A (p.His210Gln)
c.318T>A (p.His106Gln)
c.480T>A (p.His160Gln)
n.248T>A
n.382T>A
c.531T>A (p.His177Gln)
c.675T>A (p.His225Gln)
c.1011T>A (p.His337Gln)
n.1053T>A
12g.7201766T>CCA478185878PEX5c.567T>C (p.His189=)
c.612T>C (p.His204=)
c.630T>C (p.His210=)
c.318T>C (p.His106=)
c.480T>C (p.His160=)
n.248T>C
n.382T>C
c.531T>C (p.His177=)
c.675T>C (p.His225=)
c.1011T>C (p.His337=)
n.1053T>C
 ClinVar dbSNP gnomAD v4
12g.7201766T>GCA383721270PEX5c.567T>G (p.His189Gln)
c.612T>G (p.His204Gln)
c.630T>G (p.His210Gln)
c.318T>G (p.His106Gln)
c.480T>G (p.His160Gln)
n.248T>G
n.382T>G
c.531T>G (p.His177Gln)
c.675T>G (p.His225Gln)
c.1011T>G (p.His337Gln)
n.1053T>G
12g.7201766T=CA2014444908PEX5c.567T= (p.His189=)
c.612T= (p.His204=)
c.630T= (p.His210=)
c.318T= (p.His106=)
c.480T= (p.His160=)
n.248T=
n.382T=
c.531T= (p.His177=)
c.675T= (p.His225=)
c.1011T= (p.His337=)
n.1053T=
12g.7201767C>ACA383721273PEX5c.568C>A (p.Pro190Thr)
c.613C>A (p.Pro205Thr)
c.631C>A (p.Pro211Thr)
c.319C>A (p.Pro107Thr)
c.481C>A (p.Pro161Thr)
n.249C>A
n.383C>A
c.532C>A (p.Pro178Thr)
c.676C>A (p.Pro226Thr)
c.1012C>A (p.Pro338Thr)
n.1054C>A
12g.7201767C=CA2014444909PEX5c.568C= (p.Pro190=)
c.613C= (p.Pro205=)
c.631C= (p.Pro211=)
c.319C= (p.Pro107=)
c.481C= (p.Pro161=)
n.249C=
n.383C=
c.532C= (p.Pro178=)
c.676C= (p.Pro226=)
c.1012C= (p.Pro338=)
n.1054C=
12g.7201767C>GCA383721274PEX5c.568C>G (p.Pro190Ala)
c.613C>G (p.Pro205Ala)
c.631C>G (p.Pro211Ala)
c.319C>G (p.Pro107Ala)
c.481C>G (p.Pro161Ala)
n.249C>G
n.383C>G
c.532C>G (p.Pro178Ala)
c.676C>G (p.Pro226Ala)
c.1012C>G (p.Pro338Ala)
n.1054C>G
12g.7201767C>TCA383721278PEX5c.568C>T (p.Pro190Ser)
c.613C>T (p.Pro205Ser)
c.631C>T (p.Pro211Ser)
c.319C>T (p.Pro107Ser)
c.481C>T (p.Pro161Ser)
n.249C>T
n.383C>T
c.532C>T (p.Pro178Ser)
c.676C>T (p.Pro226Ser)
c.1012C>T (p.Pro338Ser)
n.1054C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.7201768C>ACA383721285PEX5c.569C>A (p.Pro190His)
c.614C>A (p.Pro205His)
c.632C>A (p.Pro211His)
c.320C>A (p.Pro107His)
c.482C>A (p.Pro161His)
n.250C>A
n.384C>A
c.533C>A (p.Pro178His)
c.677C>A (p.Pro226His)
c.1013C>A (p.Pro338His)
n.1055C>A
12g.7201768C>GCA383721288PEX5c.569C>G (p.Pro190Arg)
c.614C>G (p.Pro205Arg)
c.632C>G (p.Pro211Arg)
c.320C>G (p.Pro107Arg)
c.482C>G (p.Pro161Arg)
n.250C>G
n.384C>G
c.533C>G (p.Pro178Arg)
c.677C>G (p.Pro226Arg)
c.1013C>G (p.Pro338Arg)
n.1055C>G
12g.7201768C>TCA383721289PEX5c.569C>T (p.Pro190Leu)
c.614C>T (p.Pro205Leu)
c.632C>T (p.Pro211Leu)
c.320C>T (p.Pro107Leu)
c.482C>T (p.Pro161Leu)
n.250C>T
n.384C>T
c.533C>T (p.Pro178Leu)
c.677C>T (p.Pro226Leu)
c.1013C>T (p.Pro338Leu)
n.1055C>T
 ClinVar dbSNP
12g.7201769T>ACA478185881PEX5c.570T>A (p.Pro190=)
c.615T>A (p.Pro205=)
c.633T>A (p.Pro211=)
c.321T>A (p.Pro107=)
c.483T>A (p.Pro161=)
n.251T>A
n.385T>A
c.534T>A (p.Pro178=)
c.678T>A (p.Pro226=)
c.1014T>A (p.Pro338=)
n.1056T>A
12g.7201769T>CCA6426196PEX5c.570T>C (p.Pro190=)
c.615T>C (p.Pro205=)
c.633T>C (p.Pro211=)
c.321T>C (p.Pro107=)
c.483T>C (p.Pro161=)
n.251T>C
n.385T>C
c.534T>C (p.Pro178=)
c.678T>C (p.Pro226=)
c.1014T>C (p.Pro338=)
n.1056T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.7201769T>GCA478185882PEX5c.570T>G (p.Pro190=)
c.615T>G (p.Pro205=)
c.633T>G (p.Pro211=)
c.321T>G (p.Pro107=)
c.483T>G (p.Pro161=)
n.251T>G
n.385T>G
c.534T>G (p.Pro178=)
c.678T>G (p.Pro226=)
c.1014T>G (p.Pro338=)
n.1056T>G
 dbSNP
12g.7201769T=CA2014444910PEX5c.570T= (p.Pro190=)
c.615T= (p.Pro205=)
c.633T= (p.Pro211=)
c.321T= (p.Pro107=)
c.483T= (p.Pro161=)
n.251T=
n.385T=
c.534T= (p.Pro178=)
c.678T= (p.Pro226=)
c.1014T= (p.Pro338=)
n.1056T=
12g.7201770G>ACA383721296PEX5c.571G>A (p.Glu191Lys)
c.616G>A (p.Glu206Lys)
c.634G>A (p.Glu212Lys)
c.322G>A (p.Glu108Lys)
c.484G>A (p.Glu162Lys)
n.252G>A
n.386G>A
c.535G>A (p.Glu179Lys)
c.679G>A (p.Glu227Lys)
c.1015G>A (p.Glu339Lys)
n.1057G>A
 gnomAD v4
12g.7201770G>CCA383721301PEX5c.571G>C (p.Glu191Gln)
c.616G>C (p.Glu206Gln)
c.634G>C (p.Glu212Gln)
c.322G>C (p.Glu108Gln)
c.484G>C (p.Glu162Gln)
n.252G>C
n.386G>C
c.535G>C (p.Glu179Gln)
c.679G>C (p.Glu227Gln)
c.1015G>C (p.Glu339Gln)
n.1057G>C
12g.7201770G>TCA383721306PEX5c.571G>T (p.Glu191Ter)
c.616G>T (p.Glu206Ter)
c.634G>T (p.Glu212Ter)
c.322G>T (p.Glu108Ter)
c.484G>T (p.Glu162Ter)
n.252G>T
n.386G>T
c.535G>T (p.Glu179Ter)
c.679G>T (p.Glu227Ter)
c.1015G>T (p.Glu339Ter)
n.1057G>T
12g.7201771A>CCA383721319PEX5c.572A>C (p.Glu191Ala)
c.617A>C (p.Glu206Ala)
c.635A>C (p.Glu212Ala)
c.323A>C (p.Glu108Ala)
c.485A>C (p.Glu162Ala)
n.253A>C
n.387A>C
c.536A>C (p.Glu179Ala)
c.680A>C (p.Glu227Ala)
c.1016A>C (p.Glu339Ala)
n.1058A>C
12g.7201771A>GCA383721326PEX5c.572A>G (p.Glu191Gly)
c.617A>G (p.Glu206Gly)
c.635A>G (p.Glu212Gly)
c.323A>G (p.Glu108Gly)
c.485A>G (p.Glu162Gly)
n.253A>G
n.387A>G
c.536A>G (p.Glu179Gly)
c.680A>G (p.Glu227Gly)
c.1016A>G (p.Glu339Gly)
n.1058A>G
12g.7201771A>TCA383721327PEX5c.572A>T (p.Glu191Val)
c.617A>T (p.Glu206Val)
c.635A>T (p.Glu212Val)
c.323A>T (p.Glu108Val)
c.485A>T (p.Glu162Val)
n.253A>T
n.387A>T
c.536A>T (p.Glu179Val)
c.680A>T (p.Glu227Val)
c.1016A>T (p.Glu339Val)
n.1058A>T
12g.7201772G>ACA478185884PEX5c.573G>A (p.Glu191=)
c.618G>A (p.Glu206=)
c.636G>A (p.Glu212=)
c.324G>A (p.Glu108=)
c.486G>A (p.Glu162=)
n.254G>A
n.388G>A
c.537G>A (p.Glu179=)
c.681G>A (p.Glu227=)
c.1017G>A (p.Glu339=)
n.1059G>A
 ClinVar gnomAD v4
12g.7201772G>CCA383721328PEX5c.573G>C (p.Glu191Asp)
c.618G>C (p.Glu206Asp)
c.636G>C (p.Glu212Asp)
c.324G>C (p.Glu108Asp)
c.486G>C (p.Glu162Asp)
n.254G>C
n.388G>C
c.537G>C (p.Glu179Asp)
c.681G>C (p.Glu227Asp)
c.1017G>C (p.Glu339Asp)
n.1059G>C
12g.7201772G>TCA383721331PEX5c.573G>T (p.Glu191Asp)
c.618G>T (p.Glu206Asp)
c.636G>T (p.Glu212Asp)
c.324G>T (p.Glu108Asp)
c.486G>T (p.Glu162Asp)
n.254G>T
n.388G>T
c.537G>T (p.Glu179Asp)
c.681G>T (p.Glu227Asp)
c.1017G>T (p.Glu339Asp)
n.1059G>T
12g.7201773G>ACA383721335PEX5c.574G>A (p.Glu192Lys)
c.619G>A (p.Glu207Lys)
c.637G>A (p.Glu213Lys)
c.325G>A (p.Glu109Lys)
c.487G>A (p.Glu163Lys)
n.255G>A
n.389G>A
c.538G>A (p.Glu180Lys)
c.682G>A (p.Glu228Lys)
c.1018G>A (p.Glu340Lys)
n.1060G>A
 gnomAD v4
12g.7201773G>CCA383721342PEX5c.574G>C (p.Glu192Gln)
c.619G>C (p.Glu207Gln)
c.637G>C (p.Glu213Gln)
c.325G>C (p.Glu109Gln)
c.487G>C (p.Glu163Gln)
n.255G>C
n.389G>C
c.538G>C (p.Glu180Gln)
c.682G>C (p.Glu228Gln)
c.1018G>C (p.Glu340Gln)
n.1060G>C
12g.7201773G>TCA383721339PEX5c.574G>T (p.Glu192Ter)
c.619G>T (p.Glu207Ter)
c.637G>T (p.Glu213Ter)
c.325G>T (p.Glu109Ter)
c.487G>T (p.Glu163Ter)
n.255G>T
n.389G>T
c.538G>T (p.Glu180Ter)
c.682G>T (p.Glu228Ter)
c.1018G>T (p.Glu340Ter)
n.1060G>T
12g.7201774A>CCA383721345PEX5c.575A>C (p.Glu192Ala)
c.620A>C (p.Glu207Ala)
c.638A>C (p.Glu213Ala)
c.326A>C (p.Glu109Ala)
c.488A>C (p.Glu163Ala)
n.256A>C
n.390A>C
c.539A>C (p.Glu180Ala)
c.683A>C (p.Glu228Ala)
c.1019A>C (p.Glu340Ala)
n.1061A>C
12g.7201774A>GCA383721349PEX5c.575A>G (p.Glu192Gly)
c.620A>G (p.Glu207Gly)
c.638A>G (p.Glu213Gly)
c.326A>G (p.Glu109Gly)
c.488A>G (p.Glu163Gly)
n.256A>G
n.390A>G
c.539A>G (p.Glu180Gly)
c.683A>G (p.Glu228Gly)
c.1019A>G (p.Glu340Gly)
n.1061A>G
12g.7201774A>TCA383721351PEX5c.575A>T (p.Glu192Val)
c.620A>T (p.Glu207Val)
c.638A>T (p.Glu213Val)
c.326A>T (p.Glu109Val)
c.488A>T (p.Glu163Val)
n.256A>T
n.390A>T
c.539A>T (p.Glu180Val)
c.683A>T (p.Glu228Val)
c.1019A>T (p.Glu340Val)
n.1061A>T
12g.7201775G>ACA478185886PEX5c.576G>A (p.Glu192=)
c.621G>A (p.Glu207=)
c.639G>A (p.Glu213=)
c.327G>A (p.Glu109=)
c.489G>A (p.Glu163=)
n.257G>A
n.391G>A
c.540G>A (p.Glu180=)
c.684G>A (p.Glu228=)
c.1020G>A (p.Glu340=)
n.1062G>A
12g.7201775G>CCA383721359PEX5c.576G>C (p.Glu192Asp)
c.621G>C (p.Glu207Asp)
c.639G>C (p.Glu213Asp)
c.327G>C (p.Glu109Asp)
c.489G>C (p.Glu163Asp)
n.257G>C
n.391G>C
c.540G>C (p.Glu180Asp)
c.684G>C (p.Glu228Asp)
c.1020G>C (p.Glu340Asp)
n.1062G>C
12g.7201775G>TCA383721367PEX5c.576G>T (p.Glu192Asp)
c.621G>T (p.Glu207Asp)
c.639G>T (p.Glu213Asp)
c.327G>T (p.Glu109Asp)
c.489G>T (p.Glu163Asp)
n.257G>T
n.391G>T
c.540G>T (p.Glu180Asp)
c.684G>T (p.Glu228Asp)
c.1020G>T (p.Glu340Asp)
n.1062G>T
12g.7201776G>ACA383721369PEX5c.577G>A (p.Asp193Asn)
c.622G>A (p.Asp208Asn)
c.640G>A (p.Asp214Asn)
c.328G>A (p.Asp110Asn)
c.490G>A (p.Asp164Asn)
n.258G>A
n.392G>A
c.541G>A (p.Asp181Asn)
c.685G>A (p.Asp229Asn)
c.1021G>A (p.Asp341Asn)
n.1063G>A
12g.7201776G>CCA383721372PEX5c.577G>C (p.Asp193His)
c.622G>C (p.Asp208His)
c.640G>C (p.Asp214His)
c.328G>C (p.Asp110His)
c.490G>C (p.Asp164His)
n.258G>C
n.392G>C
c.541G>C (p.Asp181His)
c.685G>C (p.Asp229His)
c.1021G>C (p.Asp341His)
n.1063G>C
12g.7201776G>TCA383721375PEX5c.577G>T (p.Asp193Tyr)
c.622G>T (p.Asp208Tyr)
c.640G>T (p.Asp214Tyr)
c.328G>T (p.Asp110Tyr)
c.490G>T (p.Asp164Tyr)
n.258G>T
n.392G>T
c.541G>T (p.Asp181Tyr)
c.685G>T (p.Asp229Tyr)
c.1021G>T (p.Asp341Tyr)
n.1063G>T
12g.7201777A>CCA383721378PEX5c.578A>C (p.Asp193Ala)
c.623A>C (p.Asp208Ala)
c.641A>C (p.Asp214Ala)
c.329A>C (p.Asp110Ala)
c.491A>C (p.Asp164Ala)
n.259A>C
n.393A>C
c.542A>C (p.Asp181Ala)
c.686A>C (p.Asp229Ala)
c.1022A>C (p.Asp341Ala)
n.1064A>C
12g.7201777A>GCA383721385PEX5c.578A>G (p.Asp193Gly)
c.623A>G (p.Asp208Gly)
c.641A>G (p.Asp214Gly)
c.329A>G (p.Asp110Gly)
c.491A>G (p.Asp164Gly)
n.259A>G
n.393A>G
c.542A>G (p.Asp181Gly)
c.686A>G (p.Asp229Gly)
c.1022A>G (p.Asp341Gly)
n.1064A>G
12g.7201777A>TCA383721383PEX5c.578A>T (p.Asp193Val)
c.623A>T (p.Asp208Val)
c.641A>T (p.Asp214Val)
c.329A>T (p.Asp110Val)
c.491A>T (p.Asp164Val)
n.259A>T
n.393A>T
c.542A>T (p.Asp181Val)
c.686A>T (p.Asp229Val)
c.1022A>T (p.Asp341Val)
n.1064A>T
 COSMIC COSMIC
12g.7201778T>ACA383721389PEX5c.579T>A (p.Asp193Glu)
c.624T>A (p.Asp208Glu)
c.642T>A (p.Asp214Glu)
c.330T>A (p.Asp110Glu)
c.492T>A (p.Asp164Glu)
n.260T>A
n.394T>A
c.543T>A (p.Asp181Glu)
c.687T>A (p.Asp229Glu)
c.1023T>A (p.Asp341Glu)
n.1065T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.7201778T>CCA478185890PEX5c.579T>C (p.Asp193=)
c.624T>C (p.Asp208=)
c.642T>C (p.Asp214=)
c.330T>C (p.Asp110=)
c.492T>C (p.Asp164=)
n.260T>C
n.394T>C
c.543T>C (p.Asp181=)
c.687T>C (p.Asp229=)
c.1023T>C (p.Asp341=)
n.1065T>C
 dbSNP
12g.7201778T>GCA383721395PEX5c.579T>G (p.Asp193Glu)
c.624T>G (p.Asp208Glu)
c.642T>G (p.Asp214Glu)
c.330T>G (p.Asp110Glu)
c.492T>G (p.Asp164Glu)
n.260T>G
n.394T>G
c.543T>G (p.Asp181Glu)
c.687T>G (p.Asp229Glu)
c.1023T>G (p.Asp341Glu)
n.1065T>G
12g.7201778T=CA2014444911PEX5c.579T= (p.Asp193=)
c.624T= (p.Asp208=)
c.642T= (p.Asp214=)
c.330T= (p.Asp110=)
c.492T= (p.Asp164=)
n.260T=
n.394T=
c.543T= (p.Asp181=)
c.687T= (p.Asp229=)
c.1023T= (p.Asp341=)
n.1065T=
12g.7201779C>ACA383721399PEX5c.580C>A (p.Leu194Met)
c.625C>A (p.Leu209Met)
c.643C>A (p.Leu215Met)
c.331C>A (p.Leu111Met)
c.493C>A (p.Leu165Met)
n.261C>A
n.395C>A
c.544C>A (p.Leu182Met)
c.688C>A (p.Leu230Met)
c.1024C>A (p.Leu342Met)
n.1066C>A
12g.7201779C>GCA383721403PEX5c.580C>G (p.Leu194Val)
c.625C>G (p.Leu209Val)
c.643C>G (p.Leu215Val)
c.331C>G (p.Leu111Val)
c.493C>G (p.Leu165Val)
n.261C>G
n.395C>G
c.544C>G (p.Leu182Val)
c.688C>G (p.Leu230Val)
c.1024C>G (p.Leu342Val)
n.1066C>G
12g.7201779C>TCA478185891PEX5c.580C>T (p.Leu194=)
c.625C>T (p.Leu209=)
c.643C>T (p.Leu215=)
c.331C>T (p.Leu111=)
c.493C>T (p.Leu165=)
n.261C>T
n.395C>T
c.544C>T (p.Leu182=)
c.688C>T (p.Leu230=)
c.1024C>T (p.Leu342=)
n.1066C>T
12g.7201780T>ACA383721406PEX5c.581T>A (p.Leu194Gln)
c.626T>A (p.Leu209Gln)
c.644T>A (p.Leu215Gln)
c.332T>A (p.Leu111Gln)
c.494T>A (p.Leu165Gln)
n.262T>A
n.396T>A
c.545T>A (p.Leu182Gln)
c.689T>A (p.Leu230Gln)
c.1025T>A (p.Leu342Gln)
n.1067T>A
 gnomAD v4
12g.7201780T>CCA383721411PEX5c.581T>C (p.Leu194Pro)
c.626T>C (p.Leu209Pro)
c.644T>C (p.Leu215Pro)
c.332T>C (p.Leu111Pro)
c.494T>C (p.Leu165Pro)
n.262T>C
n.396T>C
c.545T>C (p.Leu182Pro)
c.689T>C (p.Leu230Pro)
c.1025T>C (p.Leu342Pro)
n.1067T>C
12g.7201780T>GCA6426197PEX5c.581T>G (p.Leu194Arg)
c.626T>G (p.Leu209Arg)
c.644T>G (p.Leu215Arg)
c.332T>G (p.Leu111Arg)
c.494T>G (p.Leu165Arg)
n.262T>G
n.396T>G
c.545T>G (p.Leu182Arg)
c.689T>G (p.Leu230Arg)
c.1025T>G (p.Leu342Arg)
n.1067T>G
 dbSNP ExAC gnomAD v2
12g.7201780T=CA2014444912PEX5c.581T= (p.Leu194=)
c.626T= (p.Leu209=)
c.644T= (p.Leu215=)
c.332T= (p.Leu111=)
c.494T= (p.Leu165=)
n.262T=
n.396T=
c.545T= (p.Leu182=)
c.689T= (p.Leu230=)
c.1025T= (p.Leu342=)
n.1067T=
12g.7201781G>ACA478185894PEX5c.582G>A (p.Leu194=)
c.627G>A (p.Leu209=)
c.645G>A (p.Leu215=)
c.333G>A (p.Leu111=)
c.495G>A (p.Leu165=)
n.263G>A
n.397G>A
c.546G>A (p.Leu182=)
c.690G>A (p.Leu230=)
c.1026G>A (p.Leu342=)
n.1068G>A
 COSMIC COSMIC
12g.7201781G>CCA478185895PEX5c.582G>C (p.Leu194=)
c.627G>C (p.Leu209=)
c.645G>C (p.Leu215=)
c.333G>C (p.Leu111=)
c.495G>C (p.Leu165=)
n.263G>C
n.397G>C
c.546G>C (p.Leu182=)
c.690G>C (p.Leu230=)
c.1026G>C (p.Leu342=)
n.1068G>C
12g.7201781G>TCA478185896PEX5c.582G>T (p.Leu194=)
c.627G>T (p.Leu209=)
c.645G>T (p.Leu215=)
c.333G>T (p.Leu111=)
c.495G>T (p.Leu165=)
n.263G>T
n.397G>T
c.546G>T (p.Leu182=)
c.690G>T (p.Leu230=)
c.1026G>T (p.Leu342=)
n.1068G>T
12g.7201782C>ACA383721415PEX5c.583C>A (p.Gln195Lys)
c.628C>A (p.Gln210Lys)
c.646C>A (p.Gln216Lys)
c.334C>A (p.Gln112Lys)
c.496C>A (p.Gln166Lys)
n.264C>A
n.398C>A
c.547C>A (p.Gln183Lys)
c.691C>A (p.Gln231Lys)
c.1027C>A (p.Gln343Lys)
n.1069C>A
12g.7201782C=CA2014444913PEX5c.583C= (p.Gln195=)
c.628C= (p.Gln210=)
c.646C= (p.Gln216=)
c.334C= (p.Gln112=)
c.496C= (p.Gln166=)
n.264C=
n.398C=
c.547C= (p.Gln183=)
c.691C= (p.Gln231=)
c.1027C= (p.Gln343=)
n.1069C=
12g.7201782C>GCA383721418PEX5c.583C>G (p.Gln195Glu)
c.628C>G (p.Gln210Glu)
c.646C>G (p.Gln216Glu)
c.334C>G (p.Gln112Glu)
c.496C>G (p.Gln166Glu)
n.264C>G
n.398C>G
c.547C>G (p.Gln183Glu)
c.691C>G (p.Gln231Glu)
c.1027C>G (p.Gln343Glu)
n.1069C>G
12g.7201782C>TCA232470857PEX5c.583C>T (p.Gln195Ter)
c.628C>T (p.Gln210Ter)
c.646C>T (p.Gln216Ter)
c.334C>T (p.Gln112Ter)
c.496C>T (p.Gln166Ter)
n.264C>T
n.398C>T
c.547C>T (p.Gln183Ter)
c.691C>T (p.Gln231Ter)
c.1027C>T (p.Gln343Ter)
n.1069C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.7201783A>CCA383721423PEX5c.584A>C (p.Gln195Pro)
c.629A>C (p.Gln210Pro)
c.647A>C (p.Gln216Pro)
c.335A>C (p.Gln112Pro)
c.497A>C (p.Gln166Pro)
n.265A>C
n.399A>C
c.548A>C (p.Gln183Pro)
c.692A>C (p.Gln231Pro)
c.1028A>C (p.Gln343Pro)
n.1070A>C
12g.7201783A>GCA383721427PEX5c.584A>G (p.Gln195Arg)
c.629A>G (p.Gln210Arg)
c.647A>G (p.Gln216Arg)
c.335A>G (p.Gln112Arg)
c.497A>G (p.Gln166Arg)
n.265A>G
n.399A>G
c.548A>G (p.Gln183Arg)
c.692A>G (p.Gln231Arg)
c.1028A>G (p.Gln343Arg)
n.1070A>G
12g.7201783A>TCA383721428PEX5c.584A>T (p.Gln195Leu)
c.629A>T (p.Gln210Leu)
c.647A>T (p.Gln216Leu)
c.335A>T (p.Gln112Leu)
c.497A>T (p.Gln166Leu)
n.265A>T
n.399A>T
c.548A>T (p.Gln183Leu)
c.692A>T (p.Gln231Leu)
c.1028A>T (p.Gln343Leu)
n.1070A>T
12g.7201784G>ACA478185900PEX5c.585G>A (p.Gln195=)
c.630G>A (p.Gln210=)
c.648G>A (p.Gln216=)
c.336G>A (p.Gln112=)
c.498G>A (p.Gln166=)
n.266G>A
n.400G>A
c.549G>A (p.Gln183=)
c.693G>A (p.Gln231=)
c.1029G>A (p.Gln343=)
n.1071G>A
12g.7201784G>CCA383721433PEX5c.585G>C (p.Gln195His)
c.630G>C (p.Gln210His)
c.648G>C (p.Gln216His)
c.336G>C (p.Gln112His)
c.498G>C (p.Gln166His)
n.266G>C
n.400G>C
c.549G>C (p.Gln183His)
c.693G>C (p.Gln231His)
c.1029G>C (p.Gln343His)
n.1071G>C
12g.7201784G>TCA383721436PEX5c.585G>T (p.Gln195His)
c.630G>T (p.Gln210His)
c.648G>T (p.Gln216His)
c.336G>T (p.Gln112His)
c.498G>T (p.Gln166His)
n.266G>T
n.400G>T
c.549G>T (p.Gln183His)
c.693G>T (p.Gln231His)
c.1029G>T (p.Gln343His)
n.1071G>T
12g.7201785C>ACA383721440PEX5c.586C>A (p.His196Asn)
c.631C>A (p.His211Asn)
c.649C>A (p.His217Asn)
c.337C>A (p.His113Asn)
c.499C>A (p.His167Asn)
n.267C>A
n.401C>A
c.550C>A (p.His184Asn)
c.694C>A (p.His232Asn)
c.1030C>A (p.His344Asn)
n.1072C>A
12g.7201785C>GCA383721442PEX5c.586C>G (p.His196Asp)
c.631C>G (p.His211Asp)
c.649C>G (p.His217Asp)
c.337C>G (p.His113Asp)
c.499C>G (p.His167Asp)
n.267C>G
n.401C>G
c.550C>G (p.His184Asp)
c.694C>G (p.His232Asp)
c.1030C>G (p.His344Asp)
n.1072C>G
12g.7201785C>TCA383721447PEX5c.586C>T (p.His196Tyr)
c.631C>T (p.His211Tyr)
c.649C>T (p.His217Tyr)
c.337C>T (p.His113Tyr)
c.499C>T (p.His167Tyr)
n.267C>T
n.401C>T
c.550C>T (p.His184Tyr)
c.694C>T (p.His232Tyr)
c.1030C>T (p.His344Tyr)
n.1072C>T
12g.7201786A>CCA383721452PEX5c.587A>C (p.His196Pro)
c.632A>C (p.His211Pro)
c.650A>C (p.His217Pro)
c.338A>C (p.His113Pro)
c.500A>C (p.His167Pro)
n.268A>C
n.402A>C
c.551A>C (p.His184Pro)
c.695A>C (p.His232Pro)
c.1031A>C (p.His344Pro)
n.1073A>C
12g.7201786A>GCA383721458PEX5c.587A>G (p.His196Arg)
c.632A>G (p.His211Arg)
c.650A>G (p.His217Arg)
c.338A>G (p.His113Arg)
c.500A>G (p.His167Arg)
n.268A>G
n.402A>G
c.551A>G (p.His184Arg)
c.695A>G (p.His232Arg)
c.1031A>G (p.His344Arg)
n.1073A>G
12g.7201786A>TCA383721455PEX5c.587A>T (p.His196Leu)
c.632A>T (p.His211Leu)
c.650A>T (p.His217Leu)
c.338A>T (p.His113Leu)
c.500A>T (p.His167Leu)
n.268A>T
n.402A>T
c.551A>T (p.His184Leu)
c.695A>T (p.His232Leu)
c.1031A>T (p.His344Leu)
n.1073A>T
12g.7201787C>ACA383721460PEX5c.588C>A (p.His196Gln)
c.633C>A (p.His211Gln)
c.651C>A (p.His217Gln)
c.339C>A (p.His113Gln)
c.501C>A (p.His167Gln)
n.269C>A
n.403C>A
c.552C>A (p.His184Gln)
c.696C>A (p.His232Gln)
c.1032C>A (p.His344Gln)
n.1074C>A
 gnomAD v4
12g.7201787C=CA2014444914PEX5c.588C= (p.His196=)
c.633C= (p.His211=)
c.651C= (p.His217=)
c.339C= (p.His113=)
c.501C= (p.His167=)
n.269C=
n.403C=
c.552C= (p.His184=)
c.696C= (p.His232=)
c.1032C= (p.His344=)
n.1074C=
12g.7201787C>GCA383721464PEX5c.588C>G (p.His196Gln)
c.633C>G (p.His211Gln)
c.651C>G (p.His217Gln)
c.339C>G (p.His113Gln)
c.501C>G (p.His167Gln)
n.269C>G
n.403C>G
c.552C>G (p.His184Gln)
c.696C>G (p.His232Gln)
c.1032C>G (p.His344Gln)
n.1074C>G
12g.7201787C>TCA478185904PEX5c.588C>T (p.His196=)
c.633C>T (p.His211=)
c.651C>T (p.His217=)
c.339C>T (p.His113=)
c.501C>T (p.His167=)
n.269C>T
n.403C>T
c.552C>T (p.His184=)
c.696C>T (p.His232=)
c.1032C>T (p.His344=)
n.1074C>T
 dbSNP
12g.7201788A>CCA383721470PEX5c.589A>C (p.Thr197Pro)
c.634A>C (p.Thr212Pro)
c.652A>C (p.Thr218Pro)
c.340A>C (p.Thr114Pro)
c.502A>C (p.Thr168Pro)
n.270A>C
n.404A>C
c.553A>C (p.Thr185Pro)
c.697A>C (p.Thr233Pro)
c.1033A>C (p.Thr345Pro)
n.1075A>C
12g.7201788A>GCA383721472PEX5c.589A>G (p.Thr197Ala)
c.634A>G (p.Thr212Ala)
c.652A>G (p.Thr218Ala)
c.340A>G (p.Thr114Ala)
c.502A>G (p.Thr168Ala)
n.270A>G
n.404A>G
c.553A>G (p.Thr185Ala)
c.697A>G (p.Thr233Ala)
c.1033A>G (p.Thr345Ala)
n.1075A>G
12g.7201788A>TCA383721477PEX5c.589A>T (p.Thr197Ser)
c.634A>T (p.Thr212Ser)
c.652A>T (p.Thr218Ser)
c.340A>T (p.Thr114Ser)
c.502A>T (p.Thr168Ser)
n.270A>T
n.404A>T
c.553A>T (p.Thr185Ser)
c.697A>T (p.Thr233Ser)
c.1033A>T (p.Thr345Ser)
n.1075A>T
12g.7201789C>ACA383721482PEX5c.590C>A (p.Thr197Lys)
c.635C>A (p.Thr212Lys)
c.653C>A (p.Thr218Lys)
c.341C>A (p.Thr114Lys)
c.503C>A (p.Thr168Lys)
n.271C>A
n.405C>A
c.554C>A (p.Thr185Lys)
c.698C>A (p.Thr233Lys)
c.1034C>A (p.Thr345Lys)
n.1076C>A
12g.7201789C=CA2014444915PEX5c.590C= (p.Thr197=)
c.635C= (p.Thr212=)
c.653C= (p.Thr218=)
c.341C= (p.Thr114=)
c.503C= (p.Thr168=)
n.271C=
n.405C=
c.554C= (p.Thr185=)
c.698C= (p.Thr233=)
c.1034C= (p.Thr345=)
n.1076C=
12g.7201789C>GCA383721485PEX5c.590C>G (p.Thr197Arg)
c.635C>G (p.Thr212Arg)
c.653C>G (p.Thr218Arg)
c.341C>G (p.Thr114Arg)
c.503C>G (p.Thr168Arg)
n.271C>G
n.405C>G
c.554C>G (p.Thr185Arg)
c.698C>G (p.Thr233Arg)
c.1034C>G (p.Thr345Arg)
n.1076C>G
12g.7201789C>TCA6426198PEX5c.590C>T (p.Thr197Met)
c.635C>T (p.Thr212Met)
c.653C>T (p.Thr218Met)
c.341C>T (p.Thr114Met)
c.503C>T (p.Thr168Met)
n.271C>T
n.405C>T
c.554C>T (p.Thr185Met)
c.698C>T (p.Thr233Met)
c.1034C>T (p.Thr345Met)
n.1076C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.7201790G>ACA6426199PEX5c.591G>A (p.Thr197=)
c.636G>A (p.Thr212=)
c.654G>A (p.Thr218=)
c.342G>A (p.Thr114=)
c.504G>A (p.Thr168=)
n.272G>A
n.406G>A
c.555G>A (p.Thr185=)
c.699G>A (p.Thr233=)
c.1035G>A (p.Thr345=)
n.1077G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.7201790G>CCA478185908PEX5c.591G>C (p.Thr197=)
c.636G>C (p.Thr212=)
c.654G>C (p.Thr218=)
c.342G>C (p.Thr114=)
c.504G>C (p.Thr168=)
n.272G>C
n.406G>C
c.555G>C (p.Thr185=)
c.699G>C (p.Thr233=)
c.1035G>C (p.Thr345=)
n.1077G>C
12g.7201790G=CA2014444916PEX5c.591G= (p.Thr197=)
c.636G= (p.Thr212=)
c.654G= (p.Thr218=)
c.342G= (p.Thr114=)
c.504G= (p.Thr168=)
n.272G=
n.406G=
c.555G= (p.Thr185=)
c.699G= (p.Thr233=)
c.1035G= (p.Thr345=)
n.1077G=
12g.7201790G>TCA478185909PEX5c.591G>T (p.Thr197=)
c.636G>T (p.Thr212=)
c.654G>T (p.Thr218=)
c.342G>T (p.Thr114=)
c.504G>T (p.Thr168=)
n.272G>T
n.406G>T
c.555G>T (p.Thr185=)
c.699G>T (p.Thr233=)
c.1035G>T (p.Thr345=)
n.1077G>T
 gnomAD v4
12g.7201791G>ACA383721494PEX5c.592G>A (p.Ala198Thr)
c.637G>A (p.Ala213Thr)
c.655G>A (p.Ala219Thr)
c.343G>A (p.Ala115Thr)
c.505G>A
n.273G>A
n.407G>A
c.556G>A (p.Ala186Thr)
c.700G>A (p.Ala234Thr)
c.1036G>A (p.Ala346Thr)
n.1078G>A
 COSMIC
12g.7201791G>CCA383721504PEX5c.592G>C (p.Ala198Pro)
c.637G>C (p.Ala213Pro)
c.655G>C (p.Ala219Pro)
c.343G>C (p.Ala115Pro)
c.505G>C
n.273G>C
n.407G>C
c.556G>C (p.Ala186Pro)
c.700G>C (p.Ala234Pro)
c.1036G>C (p.Ala346Pro)
n.1078G>C
12g.7201791G>TCA383721507PEX5c.592G>T (p.Ala198Ser)
c.637G>T (p.Ala213Ser)
c.655G>T (p.Ala219Ser)
c.343G>T (p.Ala115Ser)
c.505G>T
n.273G>T
n.407G>T
c.556G>T (p.Ala186Ser)
c.700G>T (p.Ala234Ser)
c.1036G>T (p.Ala346Ser)
n.1078G>T
12g.7201792C>ACA383721516PEX5c.593C>A (p.Ala198Asp)
c.638C>A (p.Ala213Asp)
c.656C>A (p.Ala219Asp)
c.344C>A (p.Ala115Asp)
n.274C>A
n.408C>A
c.557C>A (p.Ala186Asp)
c.701C>A (p.Ala234Asp)
c.1037C>A (p.Ala346Asp)
n.1079C>A
12g.7201792C=CA2014444917PEX5c.593C= (p.Ala198=)
c.638C= (p.Ala213=)
c.656C= (p.Ala219=)
c.344C= (p.Ala115=)
n.274C=
n.408C=
c.557C= (p.Ala186=)
c.701C= (p.Ala234=)
c.1037C= (p.Ala346=)
n.1079C=
12g.7201792C>GCA383721510PEX5c.593C>G (p.Ala198Gly)
c.638C>G (p.Ala213Gly)
c.656C>G (p.Ala219Gly)
c.344C>G (p.Ala115Gly)
n.274C>G
n.408C>G
c.557C>G (p.Ala186Gly)
c.701C>G (p.Ala234Gly)
c.1037C>G (p.Ala346Gly)
n.1079C>G
 dbSNP
12g.7201792C>TCA383721513PEX5c.593C>T (p.Ala198Val)
c.638C>T (p.Ala213Val)
c.656C>T (p.Ala219Val)
c.344C>T (p.Ala115Val)
n.274C>T
n.408C>T
c.557C>T (p.Ala186Val)
c.701C>T (p.Ala234Val)
c.1037C>T (p.Ala346Val)
n.1079C>T
 gnomAD v4
12g.7201793C>ACA478185911PEX5c.594C>A (p.Ala198=)
c.639C>A (p.Ala213=)
c.657C>A (p.Ala219=)
c.345C>A (p.Ala115=)
n.275C>A
n.409C>A
c.558C>A (p.Ala186=)
c.702C>A (p.Ala234=)
c.1038C>A (p.Ala346=)
n.1080C>A
12g.7201793C>GCA478185912PEX5c.594C>G (p.Ala198=)
c.639C>G (p.Ala213=)
c.657C>G (p.Ala219=)
c.345C>G (p.Ala115=)
n.275C>G
n.409C>G
c.558C>G (p.Ala186=)
c.702C>G (p.Ala234=)
c.1038C>G (p.Ala346=)
n.1080C>G
12g.7201793C>TCA478185914PEX5c.594C>T (p.Ala198=)
c.639C>T (p.Ala213=)
c.657C>T (p.Ala219=)
c.345C>T (p.Ala115=)
n.275C>T
n.409C>T
c.558C>T (p.Ala186=)
c.702C>T (p.Ala234=)
c.1038C>T (p.Ala346=)
n.1080C>T
 ClinVar
12g.7201794A>CCA383721520PEX5c.595A>C (p.Ser199Arg)
c.640A>C (p.Ser214Arg)
c.658A>C (p.Ser220Arg)
c.346A>C
n.276A>C
c.346A>C (p.Ser116Arg)
n.410A>C
c.559A>C (p.Ser187Arg)
c.703A>C (p.Ser235Arg)
c.1039A>C (p.Ser347Arg)
n.1081A>C
12g.7201794A>GCA383721523PEX5c.595A>G (p.Ser199Gly)
c.640A>G (p.Ser214Gly)
c.658A>G (p.Ser220Gly)
c.346A>G
n.276A>G
c.346A>G (p.Ser116Gly)
n.410A>G
c.559A>G (p.Ser187Gly)
c.703A>G (p.Ser235Gly)
c.1039A>G (p.Ser347Gly)
n.1081A>G
12g.7201794A>TCA383721526PEX5c.595A>T (p.Ser199Cys)
c.640A>T (p.Ser214Cys)
c.658A>T (p.Ser220Cys)
c.346A>T
n.276A>T
c.346A>T (p.Ser116Cys)
n.410A>T
c.559A>T (p.Ser187Cys)
c.703A>T (p.Ser235Cys)
c.1039A>T (p.Ser347Cys)
n.1081A>T
12g.7201795G>ACA6426200PEX5c.596G>A (p.Ser199Asn)
c.641G>A (p.Ser214Asn)
c.659G>A (p.Ser220Asn)
c.347G>A
n.277G>A
c.347G>A (p.Ser116Asn)
n.411G>A
c.560G>A (p.Ser187Asn)
c.704G>A (p.Ser235Asn)
c.1040G>A (p.Ser347Asn)
n.1082G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.7201795G>CCA383721533PEX5c.596G>C (p.Ser199Thr)
c.641G>C (p.Ser214Thr)
c.659G>C (p.Ser220Thr)
c.347G>C
n.277G>C
c.347G>C (p.Ser116Thr)
n.411G>C
c.560G>C (p.Ser187Thr)
c.704G>C (p.Ser235Thr)
c.1040G>C (p.Ser347Thr)
n.1082G>C
12g.7201795G=CA2014444918PEX5c.596G= (p.Ser199=)
c.641G= (p.Ser214=)
c.659G= (p.Ser220=)
c.347G=
n.277G=
c.347G= (p.Ser116=)
n.411G=
c.560G= (p.Ser187=)
c.704G= (p.Ser235=)
c.1040G= (p.Ser347=)
n.1082G=
12g.7201795G>TCA383721539PEX5c.596G>T (p.Ser199Ile)
c.641G>T (p.Ser214Ile)
c.659G>T (p.Ser220Ile)
c.347G>T
n.277G>T
c.347G>T (p.Ser116Ile)
n.411G>T
c.560G>T (p.Ser187Ile)
c.704G>T (p.Ser235Ile)
c.1040G>T (p.Ser347Ile)
n.1082G>T
12g.7201796T>ACA383721543PEX5c.597T>A (p.Ser199Arg)
c.642T>A (p.Ser214Arg)
c.660T>A (p.Ser220Arg)
n.278T>A
c.348T>A (p.Ser116Arg)
n.412T>A
c.561T>A (p.Ser187Arg)
c.705T>A (p.Ser235Arg)
c.1041T>A (p.Ser347Arg)
n.1083T>A
12g.7201796T>CCA478185915PEX5c.597T>C (p.Ser199=)
c.642T>C (p.Ser214=)
c.660T>C (p.Ser220=)
n.278T>C
c.348T>C (p.Ser116=)
n.412T>C
c.561T>C (p.Ser187=)
c.705T>C (p.Ser235=)
c.1041T>C (p.Ser347=)
n.1083T>C
12g.7201796T>GCA383721546PEX5c.597T>G (p.Ser199Arg)
c.642T>G (p.Ser214Arg)
c.660T>G (p.Ser220Arg)
n.278T>G
c.348T>G (p.Ser116Arg)
n.412T>G
c.561T>G (p.Ser187Arg)
c.705T>G (p.Ser235Arg)
c.1041T>G (p.Ser347Arg)
n.1083T>G
12g.7201797G>ACA6426201PEX5c.598G>A (p.Asp200Asn)
c.643G>A (p.Asp215Asn)
c.661G>A (p.Asp221Asn)
n.279G>A
c.349G>A (p.Asp117Asn)
n.413G>A
c.562G>A (p.Asp188Asn)
c.706G>A (p.Asp236Asn)
c.1042G>A (p.Asp348Asn)
n.1084G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.7201797G>CCA383721550PEX5c.598G>C (p.Asp200His)
c.643G>C (p.Asp215His)
c.661G>C (p.Asp221His)
n.279G>C
c.349G>C (p.Asp117His)
n.413G>C
c.562G>C (p.Asp188His)
c.706G>C (p.Asp236His)
c.1042G>C (p.Asp348His)
n.1084G>C
12g.7201797G=CA2014444919PEX5c.598G= (p.Asp200=)
c.643G= (p.Asp215=)
c.661G= (p.Asp221=)
n.279G=
c.349G= (p.Asp117=)
n.413G=
c.562G= (p.Asp188=)
c.706G= (p.Asp236=)
c.1042G= (p.Asp348=)
n.1084G=
12g.7201797G>TCA383721554PEX5c.598G>T (p.Asp200Tyr)
c.643G>T (p.Asp215Tyr)
c.661G>T (p.Asp221Tyr)
n.279G>T
c.349G>T (p.Asp117Tyr)
n.413G>T
c.562G>T (p.Asp188Tyr)
c.706G>T (p.Asp236Tyr)
c.1042G>T (p.Asp348Tyr)
n.1084G>T
12g.7201798A>CCA383721564PEX5c.599A>C (p.Asp200Ala)
c.644A>C (p.Asp215Ala)
c.662A>C (p.Asp221Ala)
n.280A>C
c.350A>C (p.Asp117Ala)
n.414A>C
c.563A>C (p.Asp188Ala)
c.707A>C (p.Asp236Ala)
c.1043A>C (p.Asp348Ala)
n.1085A>C
12g.7201798A>GCA383721560PEX5c.599A>G (p.Asp200Gly)
c.644A>G (p.Asp215Gly)
c.662A>G (p.Asp221Gly)
n.280A>G
c.350A>G (p.Asp117Gly)
n.414A>G
c.563A>G (p.Asp188Gly)
c.707A>G (p.Asp236Gly)
c.1043A>G (p.Asp348Gly)
n.1085A>G
12g.7201798A>TCA383721557PEX5c.599A>T (p.Asp200Val)
c.644A>T (p.Asp215Val)
c.662A>T (p.Asp221Val)
n.280A>T
c.350A>T (p.Asp117Val)
n.414A>T
c.563A>T (p.Asp188Val)
c.707A>T (p.Asp236Val)
c.1043A>T (p.Asp348Val)
n.1085A>T
12g.7201799C>ACA383721570PEX5c.600C>A (p.Asp200Glu)
c.645C>A (p.Asp215Glu)
c.663C>A (p.Asp221Glu)
n.281C>A
c.351C>A (p.Asp117Glu)
n.415C>A
c.564C>A (p.Asp188Glu)
c.708C>A (p.Asp236Glu)
c.1044C>A (p.Asp348Glu)
n.1086C>A
12g.7201799C>GCA383721567PEX5c.600C>G (p.Asp200Glu)
c.645C>G (p.Asp215Glu)
c.663C>G (p.Asp221Glu)
n.281C>G
c.351C>G (p.Asp117Glu)
n.415C>G
c.564C>G (p.Asp188Glu)
c.708C>G (p.Asp236Glu)
c.1044C>G (p.Asp348Glu)
n.1086C>G
12g.7201799C>TCA478185918PEX5c.600C>T (p.Asp200=)
c.645C>T (p.Asp215=)
c.663C>T (p.Asp221=)
n.281C>T
c.351C>T (p.Asp117=)
n.415C>T
c.564C>T (p.Asp188=)
c.708C>T (p.Asp236=)
c.1044C>T (p.Asp348=)
n.1086C>T
 gnomAD v4
12g.7201800T>ACA383721576PEX5c.601T>A (p.Phe201Ile)
c.646T>A (p.Phe216Ile)
c.664T>A (p.Phe222Ile)
n.282T>A
c.352T>A (p.Phe118Ile)
n.416T>A
c.565T>A (p.Phe189Ile)
c.709T>A (p.Phe237Ile)
c.1045T>A (p.Phe349Ile)
n.1087T>A
12g.7201800T>CCA383721580PEX5c.601T>C (p.Phe201Leu)
c.646T>C (p.Phe216Leu)
c.664T>C (p.Phe222Leu)
n.282T>C
c.352T>C (p.Phe118Leu)
n.416T>C
c.565T>C (p.Phe189Leu)
c.709T>C (p.Phe237Leu)
c.1045T>C (p.Phe349Leu)
n.1087T>C
12g.7201800T>GCA383721584PEX5c.601T>G (p.Phe201Val)
c.646T>G (p.Phe216Val)
c.664T>G (p.Phe222Val)
n.282T>G
c.352T>G (p.Phe118Val)
n.416T>G
c.565T>G (p.Phe189Val)
c.709T>G (p.Phe237Val)
c.1045T>G (p.Phe349Val)
n.1087T>G
 dbSNP gnomAD v3 gnomAD v4
12g.7201800T=CA2014444920PEX5c.601T= (p.Phe201=)
c.646T= (p.Phe216=)
c.664T= (p.Phe222=)
n.282T=
c.352T= (p.Phe118=)
n.416T=
c.565T= (p.Phe189=)
c.709T= (p.Phe237=)
c.1045T= (p.Phe349=)
n.1087T=
12g.7201801T>ACA383721588PEX5c.602T>A (p.Phe201Tyr)
c.647T>A (p.Phe216Tyr)
c.665T>A (p.Phe222Tyr)
n.283T>A
c.353T>A (p.Phe118Tyr)
n.417T>A
c.566T>A (p.Phe189Tyr)
c.710T>A (p.Phe237Tyr)
c.1046T>A (p.Phe349Tyr)
n.1088T>A
12g.7201801T>CCA383721592PEX5c.602T>C (p.Phe201Ser)
c.647T>C (p.Phe216Ser)
c.665T>C (p.Phe222Ser)
n.283T>C
c.353T>C (p.Phe118Ser)
n.417T>C
c.566T>C (p.Phe189Ser)
c.710T>C (p.Phe237Ser)
c.1046T>C (p.Phe349Ser)
n.1088T>C
 dbSNP gnomAD v4
12g.7201801T>GCA383721593PEX5c.602T>G (p.Phe201Cys)
c.647T>G (p.Phe216Cys)
c.665T>G (p.Phe222Cys)
n.283T>G
c.353T>G (p.Phe118Cys)
n.417T>G
c.566T>G (p.Phe189Cys)
c.710T>G (p.Phe237Cys)
c.1046T>G (p.Phe349Cys)
n.1088T>G
12g.7201801T=CA2014444921PEX5c.602T= (p.Phe201=)
c.647T= (p.Phe216=)
c.665T= (p.Phe222=)
n.283T=
c.353T= (p.Phe118=)
n.417T=
c.566T= (p.Phe189=)
c.710T= (p.Phe237=)
c.1046T= (p.Phe349=)
n.1088T=
12g.7201802T>ACA383721603PEX5c.603T>A (p.Phe201Leu)
c.648T>A (p.Phe216Leu)
c.666T>A (p.Phe222Leu)
n.284T>A
c.354T>A (p.Phe118Leu)
n.418T>A
c.567T>A (p.Phe189Leu)
c.711T>A (p.Phe237Leu)
c.1047T>A (p.Phe349Leu)
n.1089T>A
12g.7201802T>CCA478185920PEX5c.603T>C (p.Phe201=)
c.648T>C (p.Phe216=)
c.666T>C (p.Phe222=)
n.284T>C
c.354T>C (p.Phe118=)
n.418T>C
c.567T>C (p.Phe189=)
c.711T>C (p.Phe237=)
c.1047T>C (p.Phe349=)
n.1089T>C
12g.7201802T>GCA383721598PEX5c.603T>G (p.Phe201Leu)
c.648T>G (p.Phe216Leu)
c.666T>G (p.Phe222Leu)
n.284T>G
c.354T>G (p.Phe118Leu)
n.418T>G
c.567T>G (p.Phe189Leu)
c.711T>G (p.Phe237Leu)
c.1047T>G (p.Phe349Leu)
n.1089T>G
12g.7201803G>ACA383721605PEX5c.604G>A (p.Val202Met)
c.649G>A (p.Val217Met)
c.667G>A (p.Val223Met)
n.285G>A
c.355G>A
n.419G>A
c.568G>A (p.Val190Met)
c.355G>A (p.Val119Met)
c.712G>A (p.Val238Met)
c.1048G>A (p.Val350Met)
n.1090G>A
12g.7201803G>CCA6426202PEX5c.604G>C (p.Val202Leu)
c.649G>C (p.Val217Leu)
c.667G>C (p.Val223Leu)
n.285G>C
c.355G>C
n.419G>C
c.568G>C (p.Val190Leu)
c.355G>C (p.Val119Leu)
c.712G>C (p.Val238Leu)
c.1048G>C (p.Val350Leu)
n.1090G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.7201803G=CA2014444922PEX5c.604G= (p.Val202=)
c.649G= (p.Val217=)
c.667G= (p.Val223=)
n.285G=
c.355G=
n.419G=
c.568G= (p.Val190=)
c.355G= (p.Val119=)
c.712G= (p.Val238=)
c.1048G= (p.Val350=)
n.1090G=
12g.7201803G>TCA383721611PEX5c.604G>T (p.Val202Leu)
c.649G>T (p.Val217Leu)
c.667G>T (p.Val223Leu)
n.285G>T
c.355G>T
n.419G>T
c.568G>T (p.Val190Leu)
c.355G>T (p.Val119Leu)
c.712G>T (p.Val238Leu)
c.1048G>T (p.Val350Leu)
n.1090G>T
12g.7201804T>ACA383721614PEX5c.605T>A (p.Val202Glu)
c.650T>A (p.Val217Glu)
c.668T>A (p.Val223Glu)
n.286T>A
c.356T>A
n.420T>A
c.569T>A (p.Val190Glu)
c.356T>A (p.Val119Glu)
c.713T>A (p.Val238Glu)
c.1049T>A (p.Val350Glu)
n.1091T>A
12g.7201804T>CCA383721617PEX5c.605T>C (p.Val202Ala)
c.650T>C (p.Val217Ala)
c.668T>C (p.Val223Ala)
n.286T>C
c.356T>C
n.420T>C
c.569T>C (p.Val190Ala)
c.356T>C (p.Val119Ala)
c.713T>C (p.Val238Ala)
c.1049T>C (p.Val350Ala)
n.1091T>C
12g.7201804T>GCA383721619PEX5c.605T>G (p.Val202Gly)
c.650T>G (p.Val217Gly)
c.668T>G (p.Val223Gly)
n.286T>G
c.356T>G
n.420T>G
c.569T>G (p.Val190Gly)
c.356T>G (p.Val119Gly)
c.713T>G (p.Val238Gly)
c.1049T>G (p.Val350Gly)
n.1091T>G
12g.7201805G>ACA478185923PEX5c.606G>A (p.Val202=)
c.651G>A (p.Val217=)
c.669G>A (p.Val223=)
n.287G>A
n.421G>A
c.570G>A (p.Val190=)
c.357G>A (p.Val119=)
c.714G>A (p.Val238=)
c.1050G>A (p.Val350=)
n.1092G>A
 dbSNP
12g.7201805G>CCA478185924PEX5c.606G>C (p.Val202=)
c.651G>C (p.Val217=)
c.669G>C (p.Val223=)
n.287G>C
n.421G>C
c.570G>C (p.Val190=)
c.357G>C (p.Val119=)
c.714G>C (p.Val238=)
c.1050G>C (p.Val350=)
n.1092G>C
12g.7201805G=CA2014444923PEX5c.606G= (p.Val202=)
c.651G= (p.Val217=)
c.669G= (p.Val223=)
n.287G=
n.421G=
c.570G= (p.Val190=)
c.357G= (p.Val119=)
c.714G= (p.Val238=)
c.1050G= (p.Val350=)
n.1092G=
12g.7201805G>TCA478185925PEX5c.606G>T (p.Val202=)
c.651G>T (p.Val217=)
c.669G>T (p.Val223=)
n.287G>T
n.421G>T
c.570G>T (p.Val190=)
c.357G>T (p.Val119=)
c.714G>T (p.Val238=)
c.1050G>T (p.Val350=)
n.1092G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.7201806G>ACA383721625PEX5c.607G>A (p.Ala203Thr)
c.652G>A (p.Ala218Thr)
c.670G>A (p.Ala224Thr)
n.288G>A
n.422G>A
c.571G>A (p.Ala191Thr)
c.358G>A (p.Ala120Thr)
c.715G>A (p.Ala239Thr)
c.1051G>A (p.Ala351Thr)
n.1093G>A
 dbSNP gnomAD v2
12g.7201806G>CCA383721632PEX5c.607G>C (p.Ala203Pro)
c.652G>C (p.Ala218Pro)
c.670G>C (p.Ala224Pro)
n.288G>C
n.422G>C
c.571G>C (p.Ala191Pro)
c.358G>C (p.Ala120Pro)
c.715G>C (p.Ala239Pro)
c.1051G>C (p.Ala351Pro)
n.1093G>C
12g.7201806G=CA2014444924PEX5c.607G= (p.Ala203=)
c.652G= (p.Ala218=)
c.670G= (p.Ala224=)
n.288G=
n.422G=
c.571G= (p.Ala191=)
c.358G= (p.Ala120=)
c.715G= (p.Ala239=)
c.1051G= (p.Ala351=)
n.1093G=
12g.7201806G>TCA383721629PEX5c.607G>T (p.Ala203Ser)
c.652G>T (p.Ala218Ser)
c.670G>T (p.Ala224Ser)
n.288G>T
n.422G>T
c.571G>T (p.Ala191Ser)
c.358G>T (p.Ala120Ser)
c.715G>T (p.Ala239Ser)
c.1051G>T (p.Ala351Ser)
n.1093G>T
12g.7201807C>ACA383721635PEX5c.608C>A (p.Ala203Asp)
c.653C>A (p.Ala218Asp)
c.671C>A (p.Ala224Asp)
n.289C>A
n.423C>A
c.572C>A (p.Ala191Asp)
c.359C>A (p.Ala120Asp)
c.716C>A (p.Ala239Asp)
c.1052C>A (p.Ala351Asp)
n.1094C>A
 COSMIC COSMIC
12g.7201807C>GCA383721638PEX5c.608C>G (p.Ala203Gly)
c.653C>G (p.Ala218Gly)
c.671C>G (p.Ala224Gly)
n.289C>G
n.423C>G
c.572C>G (p.Ala191Gly)
c.359C>G (p.Ala120Gly)
c.716C>G (p.Ala239Gly)
c.1052C>G (p.Ala351Gly)
n.1094C>G
12g.7201807C>TCA383721641PEX5c.608C>T (p.Ala203Val)
c.653C>T (p.Ala218Val)
c.671C>T (p.Ala224Val)
n.289C>T
n.423C>T
c.572C>T (p.Ala191Val)
c.359C>T (p.Ala120Val)
c.716C>T (p.Ala239Val)
c.1052C>T (p.Ala351Val)
n.1094C>T
12g.7201808C>ACA478185926PEX5c.609C>A (p.Ala203=)
c.654C>A (p.Ala218=)
c.672C>A (p.Ala224=)
n.290C>A
n.424C>A
c.573C>A (p.Ala191=)
c.360C>A (p.Ala120=)
c.717C>A (p.Ala239=)
c.1053C>A (p.Ala351=)
n.1095C>A
12g.7201808C=CA2014444925PEX5c.609C= (p.Ala203=)
c.654C= (p.Ala218=)
c.672C= (p.Ala224=)
n.290C=
n.424C=
c.573C= (p.Ala191=)
c.360C= (p.Ala120=)
c.717C= (p.Ala239=)
c.1053C= (p.Ala351=)
n.1095C=
12g.7201808C>GCA478185927PEX5c.609C>G (p.Ala203=)
c.654C>G (p.Ala218=)
c.672C>G (p.Ala224=)
n.290C>G
n.424C>G
c.573C>G (p.Ala191=)
c.360C>G (p.Ala120=)
c.717C>G (p.Ala239=)
c.1053C>G (p.Ala351=)
n.1095C>G
12g.7201808C>TCA6426203PEX5c.609C>T (p.Ala203=)
c.654C>T (p.Ala218=)
c.672C>T (p.Ala224=)
n.290C>T
n.424C>T
c.573C>T (p.Ala191=)
c.360C>T (p.Ala120=)
c.717C>T (p.Ala239=)
c.1053C>T (p.Ala351=)
n.1095C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.7201809A=CA2014444926PEX5c.610A= (p.Lys204=)
c.655A= (p.Lys219=)
c.673A= (p.Lys225=)
n.291A=
n.425A=
c.574A= (p.Lys192=)
c.361A= (p.Lys121=)
c.718A= (p.Lys240=)
c.1054A= (p.Lys352=)
n.1096A=
12g.7201809A>CCA383721646PEX5c.610A>C (p.Lys204Gln)
c.655A>C (p.Lys219Gln)
c.673A>C (p.Lys225Gln)
n.291A>C
n.425A>C
c.574A>C (p.Lys192Gln)
c.361A>C (p.Lys121Gln)
c.718A>C (p.Lys240Gln)
c.1054A>C (p.Lys352Gln)
n.1096A>C
12g.7201809A>GCA6426204PEX5c.610A>G (p.Lys204Glu)
c.655A>G (p.Lys219Glu)
c.673A>G (p.Lys225Glu)
n.291A>G
n.425A>G
c.574A>G (p.Lys192Glu)
c.361A>G (p.Lys121Glu)
c.718A>G (p.Lys240Glu)
c.1054A>G (p.Lys352Glu)
n.1096A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.7201809A>TCA383721652PEX5c.610A>T (p.Lys204Ter)
c.655A>T (p.Lys219Ter)
c.673A>T (p.Lys225Ter)
n.291A>T
n.425A>T
c.574A>T (p.Lys192Ter)
c.361A>T (p.Lys121Ter)
c.718A>T (p.Lys240Ter)
c.1054A>T (p.Lys352Ter)
n.1096A>T
12g.7201810A=CA2014444927PEX5c.611A= (p.Lys204=)
c.656A= (p.Lys219=)
c.674A= (p.Lys225=)
n.292A=
n.426A=
c.575A= (p.Lys192=)
c.362A= (p.Lys121=)
c.719A= (p.Lys240=)
c.1055A= (p.Lys352=)
n.1097A=
12g.7201810A>CCA383721656PEX5c.611A>C (p.Lys204Thr)
c.656A>C (p.Lys219Thr)
c.674A>C (p.Lys225Thr)
n.292A>C
n.426A>C
c.575A>C (p.Lys192Thr)
c.362A>C (p.Lys121Thr)
c.719A>C (p.Lys240Thr)
c.1055A>C (p.Lys352Thr)
n.1097A>C
12g.7201810A>GCA383721659PEX5c.611A>G (p.Lys204Arg)
c.656A>G (p.Lys219Arg)
c.674A>G (p.Lys225Arg)
n.292A>G
n.426A>G
c.575A>G (p.Lys192Arg)
c.362A>G (p.Lys121Arg)
c.719A>G (p.Lys240Arg)
c.1055A>G (p.Lys352Arg)
n.1097A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.7201810A>TCA383721664PEX5c.611A>T (p.Lys204Ile)
c.656A>T (p.Lys219Ile)
c.674A>T (p.Lys225Ile)
n.292A>T
n.426A>T
c.575A>T (p.Lys192Ile)
c.362A>T (p.Lys121Ile)
c.719A>T (p.Lys240Ile)
c.1055A>T (p.Lys352Ile)
n.1097A>T
12g.7201811A>CCA383721668PEX5c.612A>C (p.Lys204Asn)
c.657A>C (p.Lys219Asn)
c.675A>C (p.Lys225Asn)
n.293A>C
n.427A>C
c.576A>C (p.Lys192Asn)
c.363A>C (p.Lys121Asn)
c.720A>C (p.Lys240Asn)
c.1056A>C (p.Lys352Asn)
n.1098A>C
12g.7201811A>GCA478185929PEX5c.612A>G (p.Lys204=)
c.657A>G (p.Lys219=)
c.675A>G (p.Lys225=)
n.293A>G
n.427A>G
c.576A>G (p.Lys192=)
c.363A>G (p.Lys121=)
c.720A>G (p.Lys240=)
c.1056A>G (p.Lys352=)
n.1098A>G
12g.7201811A>TCA383721670PEX5c.612A>T (p.Lys204Asn)
c.657A>T (p.Lys219Asn)
c.675A>T (p.Lys225Asn)
n.293A>T
n.427A>T
c.576A>T (p.Lys192Asn)
c.363A>T (p.Lys121Asn)
c.720A>T (p.Lys240Asn)
c.1056A>T (p.Lys352Asn)
n.1098A>T
12g.7201812G>ACA383721675PEX5c.613G>A (p.Val205Met)
c.658G>A (p.Val220Met)
c.676G>A (p.Val226Met)
n.294G>A
n.428G>A
c.577G>A (p.Val193Met)
c.364G>A (p.Val122Met)
c.721G>A (p.Val241Met)
c.1057G>A (p.Val353Met)
n.1099G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.7201812G>CCA383721682PEX5c.613G>C (p.Val205Leu)
c.658G>C (p.Val220Leu)
c.676G>C (p.Val226Leu)
n.294G>C
n.428G>C
c.577G>C (p.Val193Leu)
c.364G>C (p.Val122Leu)
c.721G>C (p.Val241Leu)
c.1057G>C (p.Val353Leu)
n.1099G>C
12g.7201812G=CA2014444928PEX5c.613G= (p.Val205=)
c.658G= (p.Val220=)
c.676G= (p.Val226=)
n.294G=
n.428G=
c.577G= (p.Val193=)
c.364G= (p.Val122=)
c.721G= (p.Val241=)
c.1057G= (p.Val353=)
n.1099G=
12g.7201812G>TCA383721678PEX5c.613G>T (p.Val205Leu)
c.658G>T (p.Val220Leu)
c.676G>T (p.Val226Leu)
n.294G>T
n.428G>T
c.577G>T (p.Val193Leu)
c.364G>T (p.Val122Leu)
c.721G>T (p.Val241Leu)
c.1057G>T (p.Val353Leu)
n.1099G>T
12g.7201813T>ACA383721685PEX5c.614T>A (p.Val205Glu)
c.659T>A (p.Val220Glu)
c.677T>A (p.Val226Glu)
n.295T>A
n.429T>A
c.578T>A (p.Val193Glu)
c.365T>A (p.Val122Glu)
c.722T>A (p.Val241Glu)
c.1058T>A (p.Val353Glu)
n.1100T>A
12g.7201813T>CCA383721689PEX5c.614T>C (p.Val205Ala)
c.659T>C (p.Val220Ala)
c.677T>C (p.Val226Ala)
n.295T>C
n.429T>C
c.578T>C (p.Val193Ala)
c.365T>C (p.Val122Ala)
c.722T>C (p.Val241Ala)
c.1058T>C (p.Val353Ala)
n.1100T>C
12g.7201813T>GCA383721691PEX5c.614T>G (p.Val205Gly)
c.659T>G (p.Val220Gly)
c.677T>G (p.Val226Gly)
n.295T>G
n.429T>G
c.578T>G (p.Val193Gly)
c.365T>G (p.Val122Gly)
c.722T>G (p.Val241Gly)
c.1058T>G (p.Val353Gly)
n.1100T>G
12g.7201814G>ACA478185932PEX5c.615G>A (p.Val205=)
c.660G>A (p.Val220=)
c.678G>A (p.Val226=)
n.296G>A
n.430G>A
c.579G>A (p.Val193=)
c.366G>A (p.Val122=)
c.723G>A (p.Val241=)
c.1059G>A (p.Val353=)
n.1101G>A
 gnomAD v4
12g.7201814G>CCA232470877PEX5c.615G>C (p.Val205=)
c.660G>C (p.Val220=)
c.678G>C (p.Val226=)
n.296G>C
n.430G>C
c.579G>C (p.Val193=)
c.366G>C (p.Val122=)
c.723G>C (p.Val241=)
c.1059G>C (p.Val353=)
n.1101G>C
 dbSNP
12g.7201814G=CA2014444929PEX5c.615G= (p.Val205=)
c.660G= (p.Val220=)
c.678G= (p.Val226=)
n.296G=
n.430G=
c.579G= (p.Val193=)
c.366G= (p.Val122=)
c.723G= (p.Val241=)
c.1059G= (p.Val353=)
n.1101G=
12g.7201814G>TCA478185935PEX5c.615G>T (p.Val205=)
c.660G>T (p.Val220=)
c.678G>T (p.Val226=)
n.296G>T
n.430G>T
c.579G>T (p.Val193=)
c.366G>T (p.Val122=)
c.723G>T (p.Val241=)
c.1059G>T (p.Val353=)
n.1101G>T
12g.7201815G>ACA383721696PEX5c.616G>A (p.Asp206Asn)
c.661G>A (p.Asp221Asn)
c.679G>A (p.Asp227Asn)
n.297G>A
n.431G>A
c.580G>A (p.Asp194Asn)
c.367G>A (p.Asp123Asn)
c.724G>A (p.Asp242Asn)
c.1060G>A (p.Asp354Asn)
n.1102G>A
12g.7201815G>CCA383721698PEX5c.616G>C (p.Asp206His)
c.661G>C (p.Asp221His)
c.679G>C (p.Asp227His)
n.297G>C
n.431G>C
c.580G>C (p.Asp194His)
c.367G>C (p.Asp123His)
c.724G>C (p.Asp242His)
c.1060G>C (p.Asp354His)
n.1102G>C
12g.7201815G>TCA383721700PEX5c.616G>T (p.Asp206Tyr)
c.661G>T (p.Asp221Tyr)
c.679G>T (p.Asp227Tyr)
n.297G>T
n.431G>T
c.580G>T (p.Asp194Tyr)
c.367G>T (p.Asp123Tyr)
c.724G>T (p.Asp242Tyr)
c.1060G>T (p.Asp354Tyr)
n.1102G>T
12g.7201816A>CCA383721713PEX5c.617A>C (p.Asp206Ala)
c.662A>C (p.Asp221Ala)
c.680A>C (p.Asp227Ala)
n.298A>C
n.432A>C
c.581A>C (p.Asp194Ala)
c.368A>C (p.Asp123Ala)
c.725A>C (p.Asp242Ala)
c.1061A>C (p.Asp354Ala)
n.1103A>C
12g.7201816A>GCA383721706PEX5c.617A>G (p.Asp206Gly)
c.662A>G (p.Asp221Gly)
c.680A>G (p.Asp227Gly)
n.298A>G
n.432A>G
c.581A>G (p.Asp194Gly)
c.368A>G (p.Asp123Gly)
c.725A>G (p.Asp242Gly)
c.1061A>G (p.Asp354Gly)
n.1103A>G
12g.7201816A>TCA383721707PEX5c.617A>T (p.Asp206Val)
c.662A>T (p.Asp221Val)
c.680A>T (p.Asp227Val)
n.298A>T
n.432A>T
c.581A>T (p.Asp194Val)
c.368A>T (p.Asp123Val)
c.725A>T (p.Asp242Val)
c.1061A>T (p.Asp354Val)
n.1103A>T
12g.7201817T>ACA383721715PEX5c.618T>A (p.Asp206Glu)
c.663T>A (p.Asp221Glu)
c.681T>A (p.Asp227Glu)
n.299T>A
n.433T>A
c.582T>A (p.Asp194Glu)
c.369T>A (p.Asp123Glu)
c.726T>A (p.Asp242Glu)
c.1062T>A (p.Asp354Glu)
n.1104T>A
12g.7201817T>CCA478185937PEX5c.618T>C (p.Asp206=)
c.663T>C (p.Asp221=)
c.681T>C (p.Asp227=)
n.299T>C
n.433T>C
c.582T>C (p.Asp194=)
c.369T>C (p.Asp123=)
c.726T>C (p.Asp242=)
c.1062T>C (p.Asp354=)
n.1104T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.7201817T>GCA383721717PEX5c.618T>G (p.Asp206Glu)
c.663T>G (p.Asp221Glu)
c.681T>G (p.Asp227Glu)
n.299T>G
n.433T>G
c.582T>G (p.Asp194Glu)
c.369T>G (p.Asp123Glu)
c.726T>G (p.Asp242Glu)
c.1062T>G (p.Asp354Glu)
n.1104T>G
12g.7201817T=CA2014444930PEX5c.618T= (p.Asp206=)
c.663T= (p.Asp221=)
c.681T= (p.Asp227=)
n.299T=
n.433T=
c.582T= (p.Asp194=)
c.369T= (p.Asp123=)
c.726T= (p.Asp242=)
c.1062T= (p.Asp354=)
n.1104T=
12g.7201818G>ACA6426205PEX5c.619G>A (p.Asp207Asn)
c.664G>A (p.Asp222Asn)
c.682G>A (p.Asp228Asn)
n.300G>A
n.434G>A
c.583G>A (p.Asp195Asn)
c.370G>A (p.Asp124Asn)
c.727G>A (p.Asp243Asn)
c.1063G>A (p.Asp355Asn)
n.1105G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.7201818G>CCA383721723PEX5c.619G>C (p.Asp207His)
c.664G>C (p.Asp222His)
c.682G>C (p.Asp228His)
n.300G>C
n.434G>C
c.583G>C (p.Asp195His)
c.370G>C (p.Asp124His)
c.727G>C (p.Asp243His)
c.1063G>C (p.Asp355His)
n.1105G>C
12g.7201818G=CA2014444931PEX5c.619G= (p.Asp207=)
c.664G= (p.Asp222=)
c.682G= (p.Asp228=)
n.300G=
n.434G=
c.583G= (p.Asp195=)
c.370G= (p.Asp124=)
c.727G= (p.Asp243=)
c.1063G= (p.Asp355=)
n.1105G=
12g.7201818G>TCA383721726PEX5c.619G>T (p.Asp207Tyr)
c.664G>T (p.Asp222Tyr)
c.682G>T (p.Asp228Tyr)
n.300G>T
n.434G>T
c.583G>T (p.Asp195Tyr)
c.370G>T (p.Asp124Tyr)
c.727G>T (p.Asp243Tyr)
c.1063G>T (p.Asp355Tyr)
n.1105G>T
12g.7201819A=CA2014444932PEX5c.620A= (p.Asp207=)
c.665A= (p.Asp222=)
c.683A= (p.Asp228=)
n.301A=
n.435A=
c.584A= (p.Asp195=)
c.371A= (p.Asp124=)
c.728A= (p.Asp243=)
c.1064A= (p.Asp355=)
n.1106A=
12g.7201819A>CCA383721733PEX5c.620A>C (p.Asp207Ala)
c.665A>C (p.Asp222Ala)
c.683A>C (p.Asp228Ala)
n.301A>C
n.435A>C
c.584A>C (p.Asp195Ala)
c.371A>C (p.Asp124Ala)
c.728A>C (p.Asp243Ala)
c.1064A>C (p.Asp355Ala)
n.1106A>C
12g.7201819A>GCA232470882PEX5c.620A>G (p.Asp207Gly)
c.665A>G (p.Asp222Gly)
c.683A>G (p.Asp228Gly)
n.301A>G
n.435A>G
c.584A>G (p.Asp195Gly)
c.371A>G (p.Asp124Gly)
c.728A>G (p.Asp243Gly)
c.1064A>G (p.Asp355Gly)
n.1106A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.7201819A>TCA383721734PEX5c.620A>T (p.Asp207Val)
c.665A>T (p.Asp222Val)
c.683A>T (p.Asp228Val)
n.301A>T
n.435A>T
c.584A>T (p.Asp195Val)
c.371A>T (p.Asp124Val)
c.728A>T (p.Asp243Val)
c.1064A>T (p.Asp355Val)
n.1106A>T
 ClinVar dbSNP
12g.7201820C>ACA383721739PEX5c.621C>A (p.Asp207Glu)
c.666C>A (p.Asp222Glu)
c.684C>A (p.Asp228Glu)
n.302C>A
n.436C>A
c.585C>A (p.Asp195Glu)
c.372C>A (p.Asp124Glu)
c.729C>A (p.Asp243Glu)
c.1065C>A (p.Asp355Glu)
n.1107C>A
12g.7201820C>GCA383721741PEX5c.621C>G (p.Asp207Glu)
c.666C>G (p.Asp222Glu)
c.684C>G (p.Asp228Glu)
n.302C>G
n.436C>G
c.585C>G (p.Asp195Glu)
c.372C>G (p.Asp124Glu)
c.729C>G (p.Asp243Glu)
c.1065C>G (p.Asp355Glu)
n.1107C>G
12g.7201820C>TCA478185940PEX5c.621C>T (p.Asp207=)
c.666C>T (p.Asp222=)
c.684C>T (p.Asp228=)
n.302C>T
n.436C>T
c.585C>T (p.Asp195=)
c.372C>T (p.Asp124=)
c.729C>T (p.Asp243=)
c.1065C>T (p.Asp355=)
n.1107C>T
12g.7201821C>ACA383721745PEX5c.622C>A (p.Pro208Thr)
c.667C>A (p.Pro223Thr)
c.685C>A (p.Pro229Thr)
n.303C>A
n.437C>A
c.586C>A (p.Pro196Thr)
c.373C>A (p.Pro125Thr)
c.730C>A (p.Pro244Thr)
c.1066C>A (p.Pro356Thr)
n.1108C>A
12g.7201821C>GCA383721748PEX5c.622C>G (p.Pro208Ala)
c.667C>G (p.Pro223Ala)
c.685C>G (p.Pro229Ala)
n.303C>G
n.437C>G
c.586C>G (p.Pro196Ala)
c.373C>G (p.Pro125Ala)
c.730C>G (p.Pro244Ala)
c.1066C>G (p.Pro356Ala)
n.1108C>G
12g.7201821C>TCA383721751PEX5c.622C>T (p.Pro208Ser)
c.667C>T (p.Pro223Ser)
c.685C>T (p.Pro229Ser)
n.303C>T
n.437C>T
c.586C>T (p.Pro196Ser)
c.373C>T (p.Pro125Ser)
c.730C>T (p.Pro244Ser)
c.1066C>T (p.Pro356Ser)
n.1108C>T
12g.7201822C>ACA383721756PEX5c.623C>A (p.Pro208His)
c.668C>A (p.Pro223His)
c.686C>A (p.Pro229His)
n.304C>A
n.438C>A
c.587C>A (p.Pro196His)
c.374C>A (p.Pro125His)
c.731C>A (p.Pro244His)
c.1067C>A (p.Pro356His)
n.1109C>A
 gnomAD v4
12g.7201822C=CA2014444933PEX5c.623C= (p.Pro208=)
c.668C= (p.Pro223=)
c.686C= (p.Pro229=)
n.304C=
n.438C=
c.587C= (p.Pro196=)
c.374C= (p.Pro125=)
c.731C= (p.Pro244=)
c.1067C= (p.Pro356=)
n.1109C=
12g.7201822C>GCA383721759PEX5c.623C>G (p.Pro208Arg)
c.668C>G (p.Pro223Arg)
c.686C>G (p.Pro229Arg)
n.304C>G
n.438C>G
c.587C>G (p.Pro196Arg)
c.374C>G (p.Pro125Arg)
c.731C>G (p.Pro244Arg)
c.1067C>G (p.Pro356Arg)
n.1109C>G
 dbSNP gnomAD v2
12g.7201822C>TCA383721763PEX5c.623C>T (p.Pro208Leu)
c.668C>T (p.Pro223Leu)
c.686C>T (p.Pro229Leu)
n.304C>T
n.438C>T
c.587C>T (p.Pro196Leu)
c.374C>T (p.Pro125Leu)
c.731C>T (p.Pro244Leu)
c.1067C>T (p.Pro356Leu)
n.1109C>T
 dbSNP gnomAD v2 gnomAD v4
12g.7201823C>ACA478185943PEX5c.624C>A (p.Pro208=)
c.669C>A (p.Pro223=)
c.687C>A (p.Pro229=)
n.305C>A
n.439C>A
c.588C>A (p.Pro196=)
c.375C>A (p.Pro125=)
c.732C>A (p.Pro244=)
c.1068C>A (p.Pro356=)
n.1110C>A
12g.7201823C>GCA478185944PEX5c.624C>G (p.Pro208=)
c.669C>G (p.Pro223=)
c.687C>G (p.Pro229=)
n.305C>G
n.439C>G
c.588C>G (p.Pro196=)
c.375C>G (p.Pro125=)
c.732C>G (p.Pro244=)
c.1068C>G (p.Pro356=)
n.1110C>G
12g.7201823C>TCA478185946PEX5c.624C>T (p.Pro208=)
c.669C>T (p.Pro223=)
c.687C>T (p.Pro229=)
n.305C>T
n.439C>T
c.588C>T (p.Pro196=)
c.375C>T (p.Pro125=)
c.732C>T (p.Pro244=)
c.1068C>T (p.Pro356=)
n.1110C>T
12g.7201824A>CCA383721776PEX5c.625A>C (p.Lys209Gln)
c.670A>C (p.Lys224Gln)
c.688A>C (p.Lys230Gln)
n.306A>C
n.440A>C
c.589A>C (p.Lys197Gln)
c.376A>C (p.Lys126Gln)
c.733A>C (p.Lys245Gln)
c.1069A>C (p.Lys357Gln)
n.1111A>C
12g.7201824A>GCA383721779PEX5c.625A>G (p.Lys209Glu)
c.670A>G (p.Lys224Glu)
c.688A>G (p.Lys230Glu)
n.306A>G
n.440A>G
c.589A>G (p.Lys197Glu)
c.376A>G (p.Lys126Glu)
c.733A>G (p.Lys245Glu)
c.1069A>G (p.Lys357Glu)
n.1111A>G
 gnomAD v4
12g.7201824A>TCA383721784PEX5c.625A>T (p.Lys209Ter)
c.670A>T (p.Lys224Ter)
c.688A>T (p.Lys230Ter)
n.306A>T
n.440A>T
c.589A>T (p.Lys197Ter)
c.376A>T (p.Lys126Ter)
c.733A>T (p.Lys245Ter)
c.1069A>T (p.Lys357Ter)
n.1111A>T
12g.7201825A=CA2014444934PEX5c.626A= (p.Lys209=)
c.671A= (p.Lys224=)
c.689A= (p.Lys230=)
n.307A=
n.441A=
c.590A= (p.Lys197=)
c.377A= (p.Lys126=)
c.734A= (p.Lys245=)
c.1070A= (p.Lys357=)
n.1112A=
12g.7201825A>CCA383721795PEX5c.626A>C (p.Lys209Thr)
c.671A>C (p.Lys224Thr)
c.689A>C (p.Lys230Thr)
n.307A>C
n.441A>C
c.590A>C (p.Lys197Thr)
c.377A>C (p.Lys126Thr)
c.734A>C (p.Lys245Thr)
c.1070A>C (p.Lys357Thr)
n.1112A>C
 dbSNP gnomAD v3 gnomAD v4
12g.7201825A>GCA6426206PEX5c.626A>G (p.Lys209Arg)
c.671A>G (p.Lys224Arg)
c.689A>G (p.Lys230Arg)
n.307A>G
n.441A>G
c.590A>G (p.Lys197Arg)
c.377A>G (p.Lys126Arg)
c.734A>G (p.Lys245Arg)
c.1070A>G (p.Lys357Arg)
n.1112A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.7201825A>TCA383721790PEX5c.626A>T (p.Lys209Ile)
c.671A>T (p.Lys224Ile)
c.689A>T (p.Lys230Ile)
n.307A>T
n.441A>T
c.590A>T (p.Lys197Ile)
c.377A>T (p.Lys126Ile)
c.734A>T (p.Lys245Ile)
c.1070A>T (p.Lys357Ile)
n.1112A>T
 dbSNP gnomAD v3 gnomAD v4
12g.7201826A>CCA383721802PEX5c.627A>C (p.Lys209Asn)
c.672A>C (p.Lys224Asn)
c.690A>C (p.Lys230Asn)
n.308A>C
n.442A>C
c.591A>C (p.Lys197Asn)
c.378A>C (p.Lys126Asn)
c.735A>C (p.Lys245Asn)
c.1071A>C (p.Lys357Asn)
n.1113A>C
12g.7201826A>GCA478185947PEX5c.627A>G (p.Lys209=)
c.672A>G (p.Lys224=)
c.690A>G (p.Lys230=)
n.308A>G
n.442A>G
c.591A>G (p.Lys197=)
c.378A>G (p.Lys126=)
c.735A>G (p.Lys245=)
c.1071A>G (p.Lys357=)
n.1113A>G
12g.7201826A>TCA383721805PEX5c.627A>T (p.Lys209Asn)
c.672A>T (p.Lys224Asn)
c.690A>T (p.Lys230Asn)
n.308A>T
n.442A>T
c.591A>T (p.Lys197Asn)
c.378A>T (p.Lys126Asn)
c.735A>T (p.Lys245Asn)
c.1071A>T (p.Lys357Asn)
n.1113A>T
12g.7201827T>ACA383721810PEX5c.628T>A (p.Leu210Met)
c.673T>A (p.Leu225Met)
c.691T>A (p.Leu231Met)
n.309T>A
n.443T>A
c.592T>A (p.Leu198Met)
c.379T>A (p.Leu127Met)
c.736T>A (p.Leu246Met)
c.1072T>A (p.Leu358Met)
n.1114T>A
12g.7201827T>CCA478185948PEX5c.628T>C (p.Leu210=)
c.673T>C (p.Leu225=)
c.691T>C (p.Leu231=)
n.309T>C
n.443T>C
c.592T>C (p.Leu198=)
c.379T>C (p.Leu127=)
c.736T>C (p.Leu246=)
c.1072T>C (p.Leu358=)
n.1114T>C
 gnomAD v4
12g.7201827T>GCA383721814PEX5c.628T>G (p.Leu210Val)
c.673T>G (p.Leu225Val)
c.691T>G (p.Leu231Val)
n.309T>G
n.443T>G
c.592T>G (p.Leu198Val)
c.379T>G (p.Leu127Val)
c.736T>G (p.Leu246Val)
c.1072T>G (p.Leu358Val)
n.1114T>G
12g.7201828T>ACA383721819PEX5c.629T>A (p.Leu210Ter)
c.674T>A (p.Leu225Ter)
c.692T>A (p.Leu231Ter)
n.310T>A
n.444T>A
c.593T>A (p.Leu198Ter)
c.380T>A (p.Leu127Ter)
c.737T>A (p.Leu246Ter)
c.1073T>A (p.Leu358Ter)
n.1115T>A
12g.7201828T>CCA383721821PEX5c.629T>C (p.Leu210Ser)
c.674T>C (p.Leu225Ser)
c.692T>C (p.Leu231Ser)
n.310T>C
n.444T>C
c.593T>C (p.Leu198Ser)
c.380T>C (p.Leu127Ser)
c.737T>C (p.Leu246Ser)
c.1073T>C (p.Leu358Ser)
n.1115T>C
12g.7201828T>GCA383721826PEX5c.629T>G (p.Leu210Trp)
c.674T>G (p.Leu225Trp)
c.692T>G (p.Leu231Trp)
n.310T>G
n.444T>G
c.593T>G (p.Leu198Trp)
c.380T>G (p.Leu127Trp)
c.737T>G (p.Leu246Trp)
c.1073T>G (p.Leu358Trp)
n.1115T>G
 gnomAD v4
12g.7201829G>ACA478185949PEX5c.630G>A (p.Leu210=)
c.675G>A (p.Leu225=)
c.693G>A (p.Leu231=)
n.311G>A
n.445G>A
c.594G>A (p.Leu198=)
c.381G>A (p.Leu127=)
c.738G>A (p.Leu246=)
c.1074G>A (p.Leu358=)
n.1116G>A
12g.7201829G>CCA383721833PEX5c.630G>C (p.Leu210Phe)
c.675G>C (p.Leu225Phe)
c.693G>C (p.Leu231Phe)
n.311G>C
n.445G>C
c.594G>C (p.Leu198Phe)
c.381G>C (p.Leu127Phe)
c.738G>C (p.Leu246Phe)
c.1074G>C (p.Leu358Phe)
n.1116G>C
12g.7201829G>TCA383721835PEX5c.630G>T (p.Leu210Phe)
c.675G>T (p.Leu225Phe)
c.693G>T (p.Leu231Phe)
n.311G>T
n.445G>T
c.594G>T (p.Leu198Phe)
c.381G>T (p.Leu127Phe)
c.738G>T (p.Leu246Phe)
c.1074G>T (p.Leu358Phe)
n.1116G>T
12g.7201830G>ACA383721843PEX5c.631G>A (p.Ala211Thr)
c.676G>A (p.Ala226Thr)
c.694G>A (p.Ala232Thr)
n.312G>A
n.446G>A
c.595G>A (p.Ala199Thr)
c.382G>A (p.Ala128Thr)
c.739G>A (p.Ala247Thr)
c.1075G>A (p.Ala359Thr)
n.1117G>A
12g.7201830G>CCA383721846PEX5c.631G>C (p.Ala211Pro)
c.676G>C (p.Ala226Pro)
c.694G>C (p.Ala232Pro)
n.312G>C
n.446G>C
c.595G>C (p.Ala199Pro)
c.382G>C (p.Ala128Pro)
c.739G>C (p.Ala247Pro)
c.1075G>C (p.Ala359Pro)
n.1117G>C
 gnomAD v4
12g.7201830G>TCA383721849PEX5c.631G>T (p.Ala211Ser)
c.676G>T (p.Ala226Ser)
c.694G>T (p.Ala232Ser)
n.312G>T
n.446G>T
c.595G>T (p.Ala199Ser)
c.382G>T (p.Ala128Ser)
c.739G>T (p.Ala247Ser)
c.1075G>T (p.Ala359Ser)
n.1117G>T
12g.7201831C>ACA383721852PEX5c.632C>A (p.Ala211Asp)
c.677C>A (p.Ala226Asp)
c.695C>A (p.Ala232Asp)
n.313C>A
n.447C>A
c.596C>A (p.Ala199Asp)
c.383C>A (p.Ala128Asp)
c.740C>A (p.Ala247Asp)
c.1076C>A (p.Ala359Asp)
n.1118C>A
12g.7201831C>GCA383721854PEX5c.632C>G (p.Ala211Gly)
c.677C>G (p.Ala226Gly)
c.695C>G (p.Ala232Gly)
n.313C>G
n.447C>G
c.596C>G (p.Ala199Gly)
c.383C>G (p.Ala128Gly)
c.740C>G (p.Ala247Gly)
c.1076C>G (p.Ala359Gly)
n.1118C>G
12g.7201831C>TCA383721858PEX5c.632C>T (p.Ala211Val)
c.677C>T (p.Ala226Val)
c.695C>T (p.Ala232Val)
n.313C>T
n.447C>T
c.596C>T (p.Ala199Val)
c.383C>T (p.Ala128Val)
c.740C>T (p.Ala247Val)
c.1076C>T (p.Ala359Val)
n.1118C>T
12g.7201832delCA2575065936PEX5c.633del (p.Asn212IlefsTer5)
c.633del (p.Asn212IlefsTer17)
c.678del (p.Asn227IlefsTer17)
c.696del (p.Asn233IlefsTer5)
c.678del (p.Asn227IlefsTer5)
n.314del
n.448del
c.597del (p.Asn200IlefsTer17)
c.384del (p.Ala128=)
c.696del (p.Asn233IlefsTer17)
c.741del (p.Asn248IlefsTer5)
c.741del (p.Asn248IlefsTer17)
c.384del (p.Asn129IlefsTer5)
c.1077del (p.Asn360IlefsTer5)
c.1077del (p.Asn360IlefsTer17)
n.1119del
12g.7201832T>ACA478185950PEX5c.633T>A (p.Ala211=)
c.678T>A (p.Ala226=)
c.696T>A (p.Ala232=)
n.314T>A
n.448T>A
c.597T>A (p.Ala199=)
c.384T>A (p.Ala128=)
c.741T>A (p.Ala247=)
c.1077T>A (p.Ala359=)
n.1119T>A
12g.7201832T>CCA6426207PEX5c.633T>C (p.Ala211=)
c.678T>C (p.Ala226=)
c.696T>C (p.Ala232=)
n.314T>C
n.448T>C
c.597T>C (p.Ala199=)
c.384T>C (p.Ala128=)
c.741T>C (p.Ala247=)
c.1077T>C (p.Ala359=)
n.1119T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.7201832T>GCA478185951PEX5c.633T>G (p.Ala211=)
c.678T>G (p.Ala226=)
c.696T>G (p.Ala232=)
n.314T>G
n.448T>G
c.597T>G (p.Ala199=)
c.384T>G (p.Ala128=)
c.741T>G (p.Ala247=)
c.1077T>G (p.Ala359=)
n.1119T>G
12g.7201832T=CA2014444935PEX5c.633T= (p.Ala211=)
c.678T= (p.Ala226=)
c.696T= (p.Ala232=)
n.314T=
n.448T=
c.597T= (p.Ala199=)
c.384T= (p.Ala128=)
c.741T= (p.Ala247=)
c.1077T= (p.Ala359=)
n.1119T=
12g.7201833A>CCA383721875PEX5c.634A>C (p.Asn212His)
c.679A>C (p.Asn227His)
c.697A>C (p.Asn233His)
n.315A>C
n.449A>C
c.598A>C (p.Asn200His)
c.742A>C (p.Asn248His)
c.385A>C (p.Asn129His)
c.1078A>C (p.Asn360His)
n.1120A>C
12g.7201833A>GCA383721867PEX5c.634A>G (p.Asn212Asp)
c.679A>G (p.Asn227Asp)
c.697A>G (p.Asn233Asp)
n.315A>G
n.449A>G
c.598A>G (p.Asn200Asp)
c.742A>G (p.Asn248Asp)
c.385A>G (p.Asn129Asp)
c.1078A>G (p.Asn360Asp)
n.1120A>G
12g.7201833A>TCA383721872PEX5c.634A>T (p.Asn212Tyr)
c.679A>T (p.Asn227Tyr)
c.697A>T (p.Asn233Tyr)
n.315A>T
n.449A>T
c.598A>T (p.Asn200Tyr)
c.742A>T (p.Asn248Tyr)
c.385A>T (p.Asn129Tyr)
c.1078A>T (p.Asn360Tyr)
n.1120A>T
12g.7201834A>CCA383721879PEX5c.635A>C (p.Asn212Thr)
c.680A>C (p.Asn227Thr)
c.698A>C (p.Asn233Thr)
n.316A>C
n.450A>C
c.599A>C (p.Asn200Thr)
c.743A>C (p.Asn248Thr)
c.386A>C (p.Asn129Thr)
c.1079A>C (p.Asn360Thr)
n.1121A>C
12g.7201834A>GCA383721881PEX5c.635A>G (p.Asn212Ser)
c.680A>G (p.Asn227Ser)
c.698A>G (p.Asn233Ser)
n.316A>G
n.450A>G
c.599A>G (p.Asn200Ser)
c.743A>G (p.Asn248Ser)
c.386A>G (p.Asn129Ser)
c.1079A>G (p.Asn360Ser)
n.1121A>G
12g.7201834A>TCA383721886PEX5c.635A>T (p.Asn212Ile)
c.680A>T (p.Asn227Ile)
c.698A>T (p.Asn233Ile)
n.316A>T
n.450A>T
c.599A>T (p.Asn200Ile)
c.743A>T (p.Asn248Ile)
c.386A>T (p.Asn129Ile)
c.1079A>T (p.Asn360Ile)
n.1121A>T
12g.7201835T>ACA383721890PEX5c.636T>A (p.Asn212Lys)
c.681T>A (p.Asn227Lys)
c.699T>A (p.Asn233Lys)
n.317T>A
n.451T>A
c.600T>A (p.Asn200Lys)
c.744T>A (p.Asn248Lys)
c.387T>A (p.Asn129Lys)
c.1080T>A (p.Asn360Lys)
n.1122T>A
12g.7201835T>CCA478185952PEX5c.636T>C (p.Asn212=)
c.681T>C (p.Asn227=)
c.699T>C (p.Asn233=)
n.317T>C
n.451T>C
c.600T>C (p.Asn200=)
c.744T>C (p.Asn248=)
c.387T>C (p.Asn129=)
c.1080T>C (p.Asn360=)
n.1122T>C
12g.7201835T>GCA383721895PEX5c.636T>G (p.Asn212Lys)
c.681T>G (p.Asn227Lys)
c.699T>G (p.Asn233Lys)
n.317T>G
n.451T>G
c.600T>G (p.Asn200Lys)
c.744T>G (p.Asn248Lys)
c.387T>G (p.Asn129Lys)
c.1080T>G (p.Asn360Lys)
n.1122T>G
12g.7201836T>ACA383721901PEX5c.637T>A (p.Ser213Thr)
c.682T>A (p.Ser228Thr)
c.700T>A (p.Ser234Thr)
n.318T>A
n.452T>A
c.601T>A (p.Ser201Thr)
c.745T>A (p.Ser249Thr)
c.388T>A (p.Ser130Thr)
c.1081T>A (p.Ser361Thr)
n.1123T>A
12g.7201836T>CCA383721903PEX5c.637T>C (p.Ser213Pro)
c.682T>C (p.Ser228Pro)
c.700T>C (p.Ser234Pro)
n.318T>C
n.452T>C
c.601T>C (p.Ser201Pro)
c.745T>C (p.Ser249Pro)
c.388T>C (p.Ser130Pro)
c.1081T>C (p.Ser361Pro)
n.1123T>C
12g.7201836T>GCA383721907PEX5c.637T>G (p.Ser213Ala)
c.682T>G (p.Ser228Ala)
c.700T>G (p.Ser234Ala)
n.318T>G
n.452T>G
c.601T>G (p.Ser201Ala)
c.745T>G (p.Ser249Ala)
c.388T>G (p.Ser130Ala)
c.1081T>G (p.Ser361Ala)
n.1123T>G
12g.7201837C>ACA383721913PEX5c.638C>A (p.Ser213Tyr)
c.683C>A (p.Ser228Tyr)
c.701C>A (p.Ser234Tyr)
n.319C>A
n.453C>A
c.602C>A (p.Ser201Tyr)
c.746C>A (p.Ser249Tyr)
c.389C>A (p.Ser130Tyr)
c.1082C>A (p.Ser361Tyr)
n.1124C>A
12g.7201837C>GCA383721915PEX5c.638C>G (p.Ser213Cys)
c.683C>G (p.Ser228Cys)
c.701C>G (p.Ser234Cys)
n.319C>G
n.453C>G
c.602C>G (p.Ser201Cys)
c.746C>G (p.Ser249Cys)
c.389C>G (p.Ser130Cys)
c.1082C>G (p.Ser361Cys)
n.1124C>G
12g.7201837C>TCA383721920PEX5c.638C>T (p.Ser213Phe)
c.683C>T (p.Ser228Phe)
c.701C>T (p.Ser234Phe)
n.319C>T
n.453C>T
c.602C>T (p.Ser201Phe)
c.746C>T (p.Ser249Phe)
c.389C>T (p.Ser130Phe)
c.1082C>T (p.Ser361Phe)
n.1124C>T
12g.7201838T>ACA478185955PEX5c.639T>A (p.Ser213=)
c.684T>A (p.Ser228=)
c.702T>A (p.Ser234=)
n.320T>A
n.454T>A
c.603T>A (p.Ser201=)
c.747T>A (p.Ser249=)
c.390T>A (p.Ser130=)
c.1083T>A (p.Ser361=)
n.1125T>A
12g.7201838T>CCA478185954PEX5c.639T>C (p.Ser213=)
c.684T>C (p.Ser228=)
c.702T>C (p.Ser234=)
n.320T>C
n.454T>C
c.603T>C (p.Ser201=)
c.747T>C (p.Ser249=)
c.390T>C (p.Ser130=)
c.1083T>C (p.Ser361=)
n.1125T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.7201838T>GCA478185953PEX5c.639T>G (p.Ser213=)
c.684T>G (p.Ser228=)
c.702T>G (p.Ser234=)
n.320T>G
n.454T>G
c.603T>G (p.Ser201=)
c.747T>G (p.Ser249=)
c.390T>G (p.Ser130=)
c.1083T>G (p.Ser361=)
n.1125T>G
12g.7201838T=CA2014444936PEX5c.639T= (p.Ser213=)
c.684T= (p.Ser228=)
c.702T= (p.Ser234=)
n.320T=
n.454T=
c.603T= (p.Ser201=)
c.747T= (p.Ser249=)
c.390T= (p.Ser130=)
c.1083T= (p.Ser361=)
n.1125T=
12g.7201839G>ACA383721928PEX5c.640G>A (p.Glu214Lys)
c.685G>A (p.Glu229Lys)
c.703G>A (p.Glu235Lys)
n.321G>A
n.455G>A
c.604G>A (p.Glu202Lys)
c.748G>A (p.Glu250Lys)
c.391G>A (p.Glu131Lys)
c.1084G>A (p.Glu362Lys)
n.1126G>A
12g.7201839G>CCA383721931PEX5c.640G>C (p.Glu214Gln)
c.685G>C (p.Glu229Gln)
c.703G>C (p.Glu235Gln)
n.321G>C
n.455G>C
c.604G>C (p.Glu202Gln)
c.748G>C (p.Glu250Gln)
c.391G>C (p.Glu131Gln)
c.1084G>C (p.Glu362Gln)
n.1126G>C
 gnomAD v4
12g.7201839G>TCA383721924PEX5c.640G>T (p.Glu214Ter)
c.685G>T (p.Glu229Ter)
c.703G>T (p.Glu235Ter)
n.321G>T
n.455G>T
c.604G>T (p.Glu202Ter)
c.748G>T (p.Glu250Ter)
c.391G>T (p.Glu131Ter)
c.1084G>T (p.Glu362Ter)
n.1126G>T
12g.7201840A>CCA383721944PEX5c.641A>C (p.Glu214Ala)
c.686A>C (p.Glu229Ala)
c.704A>C (p.Glu235Ala)
n.322A>C
n.456A>C
c.605A>C (p.Glu202Ala)
c.749A>C (p.Glu250Ala)
c.392A>C (p.Glu131Ala)
c.1085A>C (p.Glu362Ala)
n.1127A>C
12g.7201840A>GCA383721949PEX5c.641A>G (p.Glu214Gly)
c.686A>G (p.Glu229Gly)
c.704A>G (p.Glu235Gly)
n.322A>G
n.456A>G
c.605A>G (p.Glu202Gly)
c.749A>G (p.Glu250Gly)
c.392A>G (p.Glu131Gly)
c.1085A>G (p.Glu362Gly)
n.1127A>G
 gnomAD v4
12g.7201840A>TCA383721952PEX5c.641A>T (p.Glu214Val)
c.686A>T (p.Glu229Val)
c.704A>T (p.Glu235Val)
n.322A>T
n.456A>T
c.605A>T (p.Glu202Val)
c.749A>T (p.Glu250Val)
c.392A>T (p.Glu131Val)
c.1085A>T (p.Glu362Val)
n.1127A>T
12g.7201841G>ACA478185956PEX5c.642G>A (p.Glu214=)
c.687G>A (p.Glu229=)
c.705G>A (p.Glu235=)
n.323G>A
n.457G>A
c.606G>A (p.Glu202=)
c.750G>A (p.Glu250=)
c.393G>A (p.Glu131=)
c.1086G>A (p.Glu362=)
n.1128G>A
12g.7201841G>CCA383721955PEX5c.642G>C (p.Glu214Asp)
c.687G>C (p.Glu229Asp)
c.705G>C (p.Glu235Asp)
n.323G>C
n.457G>C
c.606G>C (p.Glu202Asp)
c.750G>C (p.Glu250Asp)
c.393G>C (p.Glu131Asp)
c.1086G>C (p.Glu362Asp)
n.1128G>C
12g.7201841G>TCA383721958PEX5c.642G>T (p.Glu214Asp)
c.687G>T (p.Glu229Asp)
c.705G>T (p.Glu235Asp)
n.323G>T
n.457G>T
c.606G>T (p.Glu202Asp)
c.750G>T (p.Glu250Asp)
c.393G>T (p.Glu131Asp)
c.1086G>T (p.Glu362Asp)
n.1128G>T
12g.7201842G>ACA383721963PEX5c.642+1G>A (n.642+1G>A)
c.687+1G>A (n.687+1G>A)
c.705+1G>A (n.705+1G>A)
n.324G>A
n.457+1G>A
c.606+1G>A (n.606+1G>A)
c.750+1G>A (n.750+1G>A)
c.393+1G>A (n.393+1G>A)
c.1086+1G>A (n.1086+1G>A)
n.1128+1G>A
 gnomAD v4
12g.7201842G>CCA383721967PEX5c.642+1G>C (n.642+1G>C)
c.687+1G>C (n.687+1G>C)
c.705+1G>C (n.705+1G>C)
n.324G>C
n.457+1G>C
c.606+1G>C (n.606+1G>C)
c.750+1G>C (n.750+1G>C)
c.393+1G>C (n.393+1G>C)
c.1086+1G>C (n.1086+1G>C)
n.1128+1G>C
12g.7201842G>TCA383721970PEX5c.642+1G>T (n.642+1G>T)
c.687+1G>T (n.687+1G>T)
c.705+1G>T (n.705+1G>T)
n.324G>T
n.457+1G>T
c.606+1G>T (n.606+1G>T)
c.750+1G>T (n.750+1G>T)
c.393+1G>T (n.393+1G>T)
c.1086+1G>T (n.1086+1G>T)
n.1128+1G>T
 dbSNP
12g.7201843T>ACA383721975PEX5c.642+2T>A (n.642+2T>A)
c.687+2T>A (n.687+2T>A)
c.705+2T>A (n.705+2T>A)
n.325T>A
n.457+2T>A
c.606+2T>A (n.606+2T>A)
c.750+2T>A (n.750+2T>A)
c.393+2T>A (n.393+2T>A)
c.1086+2T>A (n.1086+2T>A)
n.1128+2T>A
12g.7201843T>CCA383721979PEX5c.642+2T>C (n.642+2T>C)
c.687+2T>C (n.687+2T>C)
c.705+2T>C (n.705+2T>C)
n.325T>C
n.457+2T>C
c.606+2T>C (n.606+2T>C)
c.750+2T>C (n.750+2T>C)
c.393+2T>C (n.393+2T>C)
c.1086+2T>C (n.1086+2T>C)
n.1128+2T>C
12g.7201843T>GCA383721982PEX5c.642+2T>G (n.642+2T>G)
c.687+2T>G (n.687+2T>G)
c.705+2T>G (n.705+2T>G)
n.325T>G
n.457+2T>G
c.606+2T>G (n.606+2T>G)
c.750+2T>G (n.750+2T>G)
c.393+2T>G (n.393+2T>G)
c.1086+2T>G (n.1086+2T>G)
n.1128+2T>G
12g.7201844G>ACA603149008PEX5c.642+3G>A (n.642+3G>A)
c.687+3G>A (n.687+3G>A)
c.705+3G>A (n.705+3G>A)
n.326G>A
n.457+3G>A
c.606+3G>A (n.606+3G>A)
c.750+3G>A (n.750+3G>A)
c.393+3G>A (n.393+3G>A)
c.1086+3G>A (n.1086+3G>A)
n.1128+3G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.7201844G=CA2014444938PEX5c.642+3G= (n.642+3G=)
c.687+3G= (n.687+3G=)
c.705+3G= (n.705+3G=)
n.326G=
n.457+3G=
c.606+3G= (n.606+3G=)
c.750+3G= (n.750+3G=)
c.393+3G= (n.393+3G=)
c.1086+3G= (n.1086+3G=)
n.1128+3G=
12g.7201844_7201845delinsGACA2014444937PEX5c.642+3_642+4delinsGA (n.642+3_642+4delinsGA)
c.687+3_687+4delinsGA (n.687+3_687+4delinsGA)
c.705+3_705+4delinsGA (n.705+3_705+4delinsGA)
n.326_327delinsGA
n.457+3_457+4delinsGA
c.606+3_606+4delinsGA (n.606+3_606+4delinsGA)
c.750+3_750+4delinsGA (n.750+3_750+4delinsGA)
c.393+3_393+4delinsGA (n.393+3_393+4delinsGA)
c.1086+3_1086+4delinsGA (n.1086+3_1086+4delinsGA)
n.1128+3_1128+4delinsGA
12g.7201845delCA6426208PEX5c.642+4del (n.642+4del)
c.687+4del (n.687+4del)
c.705+4del (n.705+4del)
n.327del
n.457+4del
c.606+4del (n.606+4del)
c.750+4del (n.750+4del)
c.393+4del (n.393+4del)
c.1086+4del (n.1086+4del)
n.1128+4del
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.7201846G=CA2014444939PEX5c.642+5G= (n.642+5G=)
c.687+5G= (n.687+5G=)
c.705+5G= (n.705+5G=)
n.328G=
n.457+5G=
c.606+5G= (n.606+5G=)
c.750+5G= (n.750+5G=)
c.393+5G= (n.393+5G=)
c.1086+5G= (n.1086+5G=)
n.1128+5G=
12g.7201846G>TCA6426209PEX5c.642+5G>T (n.642+5G>T)
c.687+5G>T (n.687+5G>T)
c.705+5G>T (n.705+5G>T)
n.328G>T
n.457+5G>T
c.606+5G>T (n.606+5G>T)
c.750+5G>T (n.750+5G>T)
c.393+5G>T (n.393+5G>T)
c.1086+5G>T (n.1086+5G>T)
n.1128+5G>T
 dbSNP ExAC gnomAD v2
12g.7201847C>ACA2617412755PEX5c.642+6C>A (n.642+6C>A)
c.687+6C>A (n.687+6C>A)
c.705+6C>A (n.705+6C>A)
n.329C>A
n.457+6C>A
c.606+6C>A (n.606+6C>A)
c.750+6C>A (n.750+6C>A)
c.393+6C>A (n.393+6C>A)
c.1086+6C>A (n.1086+6C>A)
n.1128+6C>A
 gnomAD v4
12g.7201847C=CA2014444940PEX5c.642+6C= (n.642+6C=)
c.687+6C= (n.687+6C=)
c.705+6C= (n.705+6C=)
n.329C=
n.457+6C=
c.606+6C= (n.606+6C=)
c.750+6C= (n.750+6C=)
c.393+6C= (n.393+6C=)
c.1086+6C= (n.1086+6C=)
n.1128+6C=
12g.7201847C>TCA6426210PEX5c.642+6C>T (n.642+6C>T)
c.687+6C>T (n.687+6C>T)
c.705+6C>T (n.705+6C>T)
n.329C>T
n.457+6C>T
c.606+6C>T (n.606+6C>T)
c.750+6C>T (n.750+6C>T)
c.393+6C>T (n.393+6C>T)
c.1086+6C>T (n.1086+6C>T)
n.1128+6C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.7201848delCA2575065937PEX5c.642+7del (n.642+7del)
c.687+7del (n.687+7del)
c.705+7del (n.705+7del)
n.330del
n.457+7del
c.606+7del (n.606+7del)
c.750+7del (n.750+7del)
c.393+7del (n.393+7del)
c.1086+7del (n.1086+7del)
n.1128+7del
 ClinVar gnomAD v4
12g.7201848C>ACA2617412768PEX5c.642+7C>A (n.642+7C>A)
c.687+7C>A (n.687+7C>A)
c.705+7C>A (n.705+7C>A)
n.330C>A
n.457+7C>A
c.606+7C>A (n.606+7C>A)
c.750+7C>A (n.750+7C>A)
c.393+7C>A (n.393+7C>A)
c.1086+7C>A (n.1086+7C>A)
n.1128+7C>A
 gnomAD v4
12g.7201849A>GCA2739271856PEX5c.642+8A>G (n.642+8A>G)
c.687+8A>G (n.687+8A>G)
c.705+8A>G (n.705+8A>G)
n.331A>G
n.457+8A>G
c.606+8A>G (n.606+8A>G)
c.750+8A>G (n.750+8A>G)
c.393+8A>G (n.393+8A>G)
c.1086+8A>G (n.1086+8A>G)
n.1128+8A>G
 ClinVar
12g.7201850C=CA2014444941PEX5c.642+9C= (n.642+9C=)
c.687+9C= (n.687+9C=)
c.705+9C= (n.705+9C=)
n.332C=
n.457+9C=
c.606+9C= (n.606+9C=)
c.750+9C= (n.750+9C=)
c.393+9C= (n.393+9C=)
c.1086+9C= (n.1086+9C=)
n.1128+9C=
12g.7201850C>TCA2014444942PEX5c.642+9C>T (n.642+9C>T)
c.687+9C>T (n.687+9C>T)
c.705+9C>T (n.705+9C>T)
n.332C>T
n.457+9C>T
c.606+9C>T (n.606+9C>T)
c.750+9C>T (n.750+9C>T)
c.393+9C>T (n.393+9C>T)
c.1086+9C>T (n.1086+9C>T)
n.1128+9C>T
 dbSNP
12g.7201852T>CCA2617412771PEX5c.642+11T>C (n.642+11T>C)
c.687+11T>C (n.687+11T>C)
c.705+11T>C (n.705+11T>C)
n.334T>C
n.457+11T>C
c.606+11T>C (n.606+11T>C)
c.750+11T>C (n.750+11T>C)
c.393+11T>C (n.393+11T>C)
c.1086+11T>C (n.1086+11T>C)
n.1128+11T>C
 gnomAD v4
12g.7201853C>ACA2573148418PEX5c.642+12C>A (n.642+12C>A)
c.687+12C>A (n.687+12C>A)
c.705+12C>A (n.705+12C>A)
n.335C>A
n.457+12C>A
c.606+12C>A (n.606+12C>A)
c.750+12C>A (n.750+12C>A)
c.393+12C>A (n.393+12C>A)
c.1086+12C>A (n.1086+12C>A)
n.1128+12C>A
 ClinVar dbSNP gnomAD v4
12g.7201853C>TCA2617412775PEX5c.642+12C>T (n.642+12C>T)
c.687+12C>T (n.687+12C>T)
c.705+12C>T (n.705+12C>T)
n.335C>T
n.457+12C>T
c.606+12C>T (n.606+12C>T)
c.750+12C>T (n.750+12C>T)
c.393+12C>T (n.393+12C>T)
c.1086+12C>T (n.1086+12C>T)
n.1128+12C>T
 ClinVar gnomAD v4
12g.7201855delCA2617412776PEX5c.642+14del (n.642+14del)
c.687+14del (n.687+14del)
c.705+14del (n.705+14del)
n.337del
n.457+14del
c.606+14del (n.606+14del)
c.750+14del (n.750+14del)
c.393+14del (n.393+14del)
c.1086+14del (n.1086+14del)
n.1128+14del
 gnomAD v4
12g.7201854C>ACA2575065938PEX5c.642+13C>A (n.642+13C>A)
c.687+13C>A (n.687+13C>A)
c.705+13C>A (n.705+13C>A)
n.336C>A
n.457+13C>A
c.606+13C>A (n.606+13C>A)
c.750+13C>A (n.750+13C>A)
c.393+13C>A (n.393+13C>A)
c.1086+13C>A (n.1086+13C>A)
n.1128+13C>A
 gnomAD v4
12g.7201854C=CA2014444943PEX5c.642+13C= (n.642+13C=)
c.687+13C= (n.687+13C=)
c.705+13C= (n.705+13C=)
n.336C=
n.457+13C=
c.606+13C= (n.606+13C=)
c.750+13C= (n.750+13C=)
c.393+13C= (n.393+13C=)
c.1086+13C= (n.1086+13C=)
n.1128+13C=
12g.7201854C>TCA6426211PEX5c.642+13C>T (n.642+13C>T)
c.687+13C>T (n.687+13C>T)
c.705+13C>T (n.705+13C>T)
n.336C>T
n.457+13C>T
c.606+13C>T (n.606+13C>T)
c.750+13C>T (n.750+13C>T)
c.393+13C>T (n.393+13C>T)
c.1086+13C>T (n.1086+13C>T)
n.1128+13C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.7201855C>ACA2575065939PEX5c.642+14C>A (n.642+14C>A)
c.687+14C>A (n.687+14C>A)
c.705+14C>A (n.705+14C>A)
n.337C>A
n.457+14C>A
c.606+14C>A (n.606+14C>A)
c.750+14C>A (n.750+14C>A)
c.393+14C>A (n.393+14C>A)
c.1086+14C>A (n.1086+14C>A)
n.1128+14C>A
 gnomAD v4
12g.7201855C=CA2014444944PEX5c.642+14C= (n.642+14C=)
c.687+14C= (n.687+14C=)
c.705+14C= (n.705+14C=)
n.337C=
n.457+14C=
c.606+14C= (n.606+14C=)
c.750+14C= (n.750+14C=)
c.393+14C= (n.393+14C=)
c.1086+14C= (n.1086+14C=)
n.1128+14C=
12g.7201855C>GCA2014444945PEX5c.642+14C>G (n.642+14C>G)
c.687+14C>G (n.687+14C>G)
c.705+14C>G (n.705+14C>G)
n.337C>G
n.457+14C>G
c.606+14C>G (n.606+14C>G)
c.750+14C>G (n.750+14C>G)
c.393+14C>G (n.393+14C>G)
c.1086+14C>G (n.1086+14C>G)
n.1128+14C>G
 dbSNP gnomAD v3 gnomAD v4
12g.7201855C>TCA944414705PEX5c.642+14C>T (n.642+14C>T)
c.687+14C>T (n.687+14C>T)
c.705+14C>T (n.705+14C>T)
n.337C>T
n.457+14C>T
c.606+14C>T (n.606+14C>T)
c.750+14C>T (n.750+14C>T)
c.393+14C>T (n.393+14C>T)
c.1086+14C>T (n.1086+14C>T)
n.1128+14C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.7201856T>ACA2617412788PEX5c.642+15T>A (n.642+15T>A)
c.687+15T>A (n.687+15T>A)
c.705+15T>A (n.705+15T>A)
n.338T>A
n.457+15T>A
c.606+15T>A (n.606+15T>A)
c.750+15T>A (n.750+15T>A)
c.393+15T>A (n.393+15T>A)
c.1086+15T>A (n.1086+15T>A)
n.1128+15T>A
 gnomAD v4

Number of alleles fetched