UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136898142_136898241del | CA2695207084 | PEX7 | c.804_903del c.*69_*168del c.492_591del c.690_789del c.684_783del c.510_609del c.527_*26del | |
| 6 | g.136898155del | CA658823309 | PEX7 | c.817del (p.Ser273GlnfsTer20) c.*82del (n.*82del) c.505del c.703del (p.Ser235GlnfsTer20) c.697del (p.Ser233GlnfsTer20) c.523del (p.Ser175GlnfsTer20) c.540del (p.Gln181LysfsTer3) | ClinVar dbSNP |
| 6 | g.136898153T>A | CA365766550 | PEX7 | c.815T>A (p.Phe272Tyr) c.*80T>A (n.*80T>A) c.503T>A c.701T>A (p.Phe234Tyr) c.695T>A (p.Phe232Tyr) c.521T>A (p.Phe174Tyr) c.538T>A (p.Phe180Ile) | |
| 6 | g.136898153T>C | CA365766551 | PEX7 | c.815T>C (p.Phe272Ser) c.*80T>C (n.*80T>C) c.503T>C c.701T>C (p.Phe234Ser) c.695T>C (p.Phe232Ser) c.521T>C (p.Phe174Ser) c.538T>C (p.Phe180Leu) | |
| 6 | g.136898153T>G | CA365766552 | PEX7 | c.815T>G (p.Phe272Cys) c.*80T>G (n.*80T>G) c.503T>G c.701T>G (p.Phe234Cys) c.695T>G (p.Phe232Cys) c.521T>G (p.Phe174Cys) c.538T>G (p.Phe180Val) | |
| 6 | g.136898154T>A | CA365766553 | PEX7 | c.816T>A (p.Phe272Leu) c.*81T>A (n.*81T>A) c.504T>A c.702T>A (p.Phe234Leu) c.696T>A (p.Phe232Leu) c.522T>A (p.Phe174Leu) c.539T>A (p.Phe180Tyr) | |
| 6 | g.136898154T>C | CA452231776 | PEX7 | c.816T>C (p.Phe272=) c.*81T>C (n.*81T>C) c.504T>C c.702T>C (p.Phe234=) c.696T>C (p.Phe232=) c.522T>C (p.Phe174=) c.539T>C (p.Phe180Ser) | |
| 6 | g.136898154T>G | CA365766554 | PEX7 | c.816T>G (p.Phe272Leu) c.*81T>G (n.*81T>G) c.504T>G c.702T>G (p.Phe234Leu) c.696T>G (p.Phe232Leu) c.522T>G (p.Phe174Leu) c.539T>G (p.Phe180Cys) | |
| 6 | g.136898155T>A | CA365766555 | PEX7 | c.817T>A (p.Ser273Thr) c.*82T>A (n.*82T>A) c.505T>A c.703T>A (p.Ser235Thr) c.697T>A (p.Ser233Thr) c.523T>A (p.Ser175Thr) c.540T>A (p.Phe180Leu) | |
| 6 | g.136898155T>C | CA365766556 | PEX7 | c.817T>C (p.Ser273Pro) c.*82T>C (n.*82T>C) c.505T>C c.703T>C (p.Ser235Pro) c.697T>C (p.Ser233Pro) c.523T>C (p.Ser175Pro) c.540T>C (p.Phe180=) | |
| 6 | g.136898155T>G | CA365766557 | PEX7 | c.817T>G (p.Ser273Ala) c.*82T>G (n.*82T>G) c.505T>G c.703T>G (p.Ser235Ala) c.697T>G (p.Ser233Ala) c.523T>G (p.Ser175Ala) c.540T>G (p.Phe180Leu) | |
| 6 | g.136898156C>A | CA365766560 | PEX7 | c.818C>A (p.Ser273Ter) c.*83C>A (n.*83C>A) c.506C>A c.704C>A (p.Ser235Ter) c.698C>A (p.Ser233Ter) c.524C>A (p.Ser175Ter) c.541C>A (p.Gln181Lys) | |
| 6 | g.136898156C>G | CA365766558 | PEX7 | c.818C>G (p.Ser273Ter) c.*83C>G (n.*83C>G) c.506C>G c.704C>G (p.Ser235Ter) c.698C>G (p.Ser233Ter) c.524C>G (p.Ser175Ter) c.541C>G (p.Gln181Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898156C>T | CA365766559 | PEX7 | c.818C>T (p.Ser273Leu) c.*83C>T (n.*83C>T) c.506C>T c.704C>T (p.Ser235Leu) c.698C>T (p.Ser233Leu) c.524C>T (p.Ser175Leu) c.541C>T (p.Gln181Ter) | |
| 6 | g.136898157A>C | CA452231777 | PEX7 | c.819A>C (p.Ser273=) c.*84A>C (n.*84A>C) c.507A>C c.705A>C (p.Ser235=) c.699A>C (p.Ser233=) c.525A>C (p.Ser175=) c.542A>C (p.Gln181Pro) | |
| 6 | g.136898157A>G | CA452231778 | PEX7 | c.819A>G (p.Ser273=) c.*84A>G (n.*84A>G) c.507A>G c.705A>G (p.Ser235=) c.699A>G (p.Ser233=) c.525A>G (p.Ser175=) c.542A>G (p.Gln181Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898157A>T | CA452231779 | PEX7 | c.819A>T (p.Ser273=) c.*84A>T (n.*84A>T) c.507A>T c.705A>T (p.Ser235=) c.699A>T (p.Ser233=) c.525A>T (p.Ser175=) c.542A>T (p.Gln181Leu) | |
| 6 | g.136898158A>C | CA365766561 | PEX7 | c.820A>C (p.Lys274Gln) c.*85A>C (n.*85A>C) c.508A>C c.706A>C (p.Lys236Gln) c.700A>C (p.Lys234Gln) c.526A>C (p.Lys176Gln) c.543A>C (p.Gln181His) | |
| 6 | g.136898158A>G | CA365766562 | PEX7 | c.820A>G (p.Lys274Glu) c.*85A>G (n.*85A>G) c.508A>G c.706A>G (p.Lys236Glu) c.700A>G (p.Lys234Glu) c.526A>G (p.Lys176Glu) c.543A>G (p.Gln181=) | |
| 6 | g.136898158A>T | CA365766563 | PEX7 | c.820A>T (p.Lys274Ter) c.*85A>T (n.*85A>T) c.508A>T c.706A>T (p.Lys236Ter) c.700A>T (p.Lys234Ter) c.526A>T (p.Lys176Ter) c.543A>T (p.Gln181His) | |
| 6 | g.136898159A>C | CA365766564 | PEX7 | c.821A>C (p.Lys274Thr) c.*86A>C (n.*86A>C) c.509A>C c.707A>C (p.Lys236Thr) c.701A>C (p.Lys234Thr) c.527A>C (p.Lys176Thr) c.544A>C (p.Ser182Arg) | |
| 6 | g.136898159A>G | CA365766565 | PEX7 | c.821A>G (p.Lys274Arg) c.*86A>G (n.*86A>G) c.509A>G c.707A>G (p.Lys236Arg) c.701A>G (p.Lys234Arg) c.527A>G (p.Lys176Arg) c.544A>G (p.Ser182Gly) | |
| 6 | g.136898159A>T | CA365766566 | PEX7 | c.821A>T (p.Lys274Met) c.*86A>T (n.*86A>T) c.509A>T c.707A>T (p.Lys236Met) c.701A>T (p.Lys234Met) c.527A>T (p.Lys176Met) c.544A>T (p.Ser182Cys) | |
| 6 | g.136898160G>A | CA452231780 | PEX7 | c.822G>A (p.Lys274=) c.*87G>A (n.*87G>A) c.510G>A c.708G>A (p.Lys236=) c.702G>A (p.Lys234=) c.528G>A (p.Lys176=) c.545G>A (p.Ser182Asn) | ClinVar dbSNP |
| 6 | g.136898160G>C | CA365766567 | PEX7 | c.822G>C (p.Lys274Asn) c.*87G>C (n.*87G>C) c.510G>C c.708G>C (p.Lys236Asn) c.702G>C (p.Lys234Asn) c.528G>C (p.Lys176Asn) c.545G>C (p.Ser182Thr) | |
| 6 | g.136898160G>T | CA365766568 | PEX7 | c.822G>T (p.Lys274Asn) c.*87G>T (n.*87G>T) c.510G>T c.708G>T (p.Lys236Asn) c.702G>T (p.Lys234Asn) c.528G>T (p.Lys176Asn) c.545G>T (p.Ser182Ile) | |
| 6 | g.136898161C>A | CA365766569 | PEX7 | c.823C>A (p.Pro275Thr) c.*88C>A (n.*88C>A) c.511C>A c.709C>A (p.Pro237Thr) c.703C>A (p.Pro235Thr) c.529C>A (p.Pro177Thr) c.546C>A (p.Ser182Arg) | gnomAD v4 |
| 6 | g.136898161C>G | CA365766570 | PEX7 | c.823C>G (p.Pro275Ala) c.*88C>G (n.*88C>G) c.511C>G c.709C>G (p.Pro237Ala) c.703C>G (p.Pro235Ala) c.529C>G (p.Pro177Ala) c.546C>G (p.Ser182Arg) | gnomAD v4 |
| 6 | g.136898161C>T | CA4017780 | PEX7 | c.823C>T (p.Pro275Ser) c.*88C>T (n.*88C>T) c.511C>T c.709C>T (p.Pro237Ser) c.703C>T (p.Pro235Ser) c.529C>T (p.Pro177Ser) c.546C>T (p.Ser182=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136898162C>A | CA365766573 | PEX7 | c.824C>A (p.Pro275His) c.*89C>A (n.*89C>A) c.512C>A c.710C>A (p.Pro237His) c.704C>A (p.Pro235His) c.530C>A (p.Pro177His) c.547C>A (p.Leu183Met) | |
| 6 | g.136898162C>G | CA365766572 | PEX7 | c.824C>G (p.Pro275Arg) c.*89C>G (n.*89C>G) c.512C>G c.710C>G (p.Pro237Arg) c.704C>G (p.Pro235Arg) c.530C>G (p.Pro177Arg) c.547C>G (p.Leu183Val) | |
| 6 | g.136898162C>T | CA365766571 | PEX7 | c.824C>T (p.Pro275Leu) c.*89C>T (n.*89C>T) c.512C>T c.710C>T (p.Pro237Leu) c.704C>T (p.Pro235Leu) c.530C>T (p.Pro177Leu) c.547C>T (p.Leu183=) | |
| 6 | g.136898163T>A | CA452231781 | PEX7 | c.825T>A (p.Pro275=) c.*90T>A (n.*90T>A) c.513T>A c.711T>A (p.Pro237=) c.705T>A (p.Pro235=) c.531T>A (p.Pro177=) c.548T>A (p.Leu183Gln) | |
| 6 | g.136898163T>C | CA452231782 | PEX7 | c.825T>C (p.Pro275=) c.*90T>C (n.*90T>C) c.513T>C c.711T>C (p.Pro237=) c.705T>C (p.Pro235=) c.531T>C (p.Pro177=) c.548T>C (p.Leu183Pro) | |
| 6 | g.136898163T>G | CA452231783 | PEX7 | c.825T>G (p.Pro275=) c.*90T>G (n.*90T>G) c.513T>G c.711T>G (p.Pro237=) c.705T>G (p.Pro235=) c.531T>G (p.Pro177=) c.548T>G (p.Leu183Arg) | |
| 6 | g.136898164G>A | CA365766574 | PEX7 | c.826G>A (p.Asp276Asn) c.*91G>A (n.*91G>A) c.514G>A c.712G>A (p.Asp238Asn) c.706G>A (p.Asp236Asn) c.532G>A (p.Asp178Asn) c.549G>A (p.Leu183=) | |
| 6 | g.136898164G>C | CA365766575 | PEX7 | c.826G>C (p.Asp276His) c.*91G>C (n.*91G>C) c.514G>C c.712G>C (p.Asp238His) c.706G>C (p.Asp236His) c.532G>C (p.Asp178His) c.549G>C (p.Leu183=) | |
| 6 | g.136898164G>T | CA365766577 | PEX7 | c.826G>T (p.Asp276Tyr) c.*91G>T (n.*91G>T) c.514G>T c.712G>T (p.Asp238Tyr) c.706G>T (p.Asp236Tyr) c.532G>T (p.Asp178Tyr) c.549G>T (p.Leu183=) | |
| 6 | g.136898165A>C | CA365766579 | PEX7 | c.827A>C (p.Asp276Ala) c.*92A>C (n.*92A>C) c.515A>C c.713A>C (p.Asp238Ala) c.707A>C (p.Asp236Ala) c.533A>C (p.Asp178Ala) c.550A>C (p.Thr184Pro) | |
| 6 | g.136898165A>G | CA365766581 | PEX7 | c.827A>G (p.Asp276Gly) c.*92A>G (n.*92A>G) c.515A>G c.713A>G (p.Asp238Gly) c.707A>G (p.Asp236Gly) c.533A>G (p.Asp178Gly) c.550A>G (p.Thr184Ala) | |
| 6 | g.136898165A>T | CA365766582 | PEX7 | c.827A>T (p.Asp276Val) c.*92A>T (n.*92A>T) c.515A>T c.713A>T (p.Asp238Val) c.707A>T (p.Asp236Val) c.533A>T (p.Asp178Val) c.550A>T (p.Thr184Ser) | |
| 6 | g.136898166C>A | CA365766586 | PEX7 | c.828C>A (p.Asp276Glu) c.*93C>A (n.*93C>A) c.516C>A c.714C>A (p.Asp238Glu) c.708C>A (p.Asp236Glu) c.534C>A (p.Asp178Glu) c.551C>A (p.Thr184Asn) | |
| 6 | g.136898166C>G | CA365766584 | PEX7 | c.828C>G (p.Asp276Glu) c.*93C>G (n.*93C>G) c.516C>G c.714C>G (p.Asp238Glu) c.708C>G (p.Asp236Glu) c.534C>G (p.Asp178Glu) c.551C>G (p.Thr184Ser) | gnomAD v4 COSMIC |
| 6 | g.136898166C>T | CA452231784 | PEX7 | c.828C>T (p.Asp276=) c.*93C>T (n.*93C>T) c.516C>T c.714C>T (p.Asp238=) c.708C>T (p.Asp236=) c.534C>T (p.Asp178=) c.551C>T (p.Thr184Ile) | ClinVar |
| 6 | g.136898170_136898171del | CA645549445 | PEX7 | c.832_833del (p.Leu278SerfsTer2) c.*97_*98del (n.*97_*98del) c.520_521del c.718_719del (p.Leu240SerfsTer2) c.712_713del (p.Leu238SerfsTer2) c.538_539del (p.Leu180SerfsTer2) c.555_556del (p.Phe186LeufsTer?) | COSMIC |
| 6 | g.136898167T>A | CA365766588 | PEX7 | c.829T>A (p.Ser277Thr) c.*94T>A (n.*94T>A) c.517T>A c.715T>A (p.Ser239Thr) c.709T>A (p.Ser237Thr) c.535T>A (p.Ser179Thr) c.552T>A (p.Thr184=) | |
| 6 | g.136898167T>C | CA365766589 | PEX7 | c.829T>C (p.Ser277Pro) c.*94T>C (n.*94T>C) c.517T>C c.715T>C (p.Ser239Pro) c.709T>C (p.Ser237Pro) c.535T>C (p.Ser179Pro) c.552T>C (p.Thr184=) | gnomAD v4 |
| 6 | g.136898167T>G | CA365766591 | PEX7 | c.829T>G (p.Ser277Ala) c.*94T>G (n.*94T>G) c.517T>G c.715T>G (p.Ser239Ala) c.709T>G (p.Ser237Ala) c.535T>G (p.Ser179Ala) c.552T>G (p.Thr184=) | |
| 6 | g.136898168C>A | CA365766592 | PEX7 | c.830C>A (p.Ser277Tyr) c.*95C>A (n.*95C>A) c.518C>A c.716C>A (p.Ser239Tyr) c.710C>A (p.Ser237Tyr) c.536C>A (p.Ser179Tyr) c.553C>A (p.Leu185Ile) | |
| 6 | g.136898168C>G | CA365766594 | PEX7 | c.830C>G (p.Ser277Cys) c.*95C>G (n.*95C>G) c.518C>G c.716C>G (p.Ser239Cys) c.710C>G (p.Ser237Cys) c.536C>G (p.Ser179Cys) c.553C>G (p.Leu185Val) | ClinVar |
| 6 | g.136898168C>T | CA365766595 | PEX7 | c.830C>T (p.Ser277Phe) c.*95C>T (n.*95C>T) c.518C>T c.716C>T (p.Ser239Phe) c.710C>T (p.Ser237Phe) c.536C>T (p.Ser179Phe) c.553C>T (p.Leu185Phe) | |
| 6 | g.136898169T>A | CA452231787 | PEX7 | c.831T>A (p.Ser277=) c.*96T>A (n.*96T>A) c.519T>A c.717T>A (p.Ser239=) c.711T>A (p.Ser237=) c.537T>A (p.Ser179=) c.554T>A (p.Leu185His) | |
| 6 | g.136898169T>C | CA452231786 | PEX7 | c.831T>C (p.Ser277=) c.*96T>C (n.*96T>C) c.519T>C c.717T>C (p.Ser239=) c.711T>C (p.Ser237=) c.537T>C (p.Ser179=) c.554T>C (p.Leu185Pro) | |
| 6 | g.136898169T>G | CA452231785 | PEX7 | c.831T>G (p.Ser277=) c.*96T>G (n.*96T>G) c.519T>G c.717T>G (p.Ser239=) c.711T>G (p.Ser237=) c.537T>G (p.Ser179=) c.554T>G (p.Leu185Arg) | |
| 6 | g.136898170C>A | CA365766597 | PEX7 | c.832C>A (p.Leu278Ile) c.*97C>A (n.*97C>A) c.520C>A c.718C>A (p.Leu240Ile) c.712C>A (p.Leu238Ile) c.538C>A (p.Leu180Ile) c.555C>A (p.Leu185=) | |
| 6 | g.136898170C>G | CA365766601 | PEX7 | c.832C>G (p.Leu278Val) c.*97C>G (n.*97C>G) c.520C>G c.718C>G (p.Leu240Val) c.712C>G (p.Leu238Val) c.538C>G (p.Leu180Val) c.555C>G (p.Leu185=) | |
| 6 | g.136898170C>T | CA365766599 | PEX7 | c.832C>T (p.Leu278Phe) c.*97C>T (n.*97C>T) c.520C>T c.718C>T (p.Leu240Phe) c.712C>T (p.Leu238Phe) c.538C>T (p.Leu180Phe) c.555C>T (p.Leu185=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.136898171T>A | CA365766602 | PEX7 | c.833T>A (p.Leu278His) c.*98T>A (n.*98T>A) c.521T>A c.719T>A (p.Leu240His) c.713T>A (p.Leu238His) c.539T>A (p.Leu180His) c.556T>A (p.Phe186Ile) | COSMIC |
| 6 | g.136898171T>C | CA365766603 | PEX7 | c.833T>C (p.Leu278Pro) c.*98T>C (n.*98T>C) c.521T>C c.719T>C (p.Leu240Pro) c.713T>C (p.Leu238Pro) c.539T>C (p.Leu180Pro) c.556T>C (p.Phe186Leu) | |
| 6 | g.136898171T>G | CA365766605 | PEX7 | c.833T>G (p.Leu278Arg) c.*98T>G (n.*98T>G) c.521T>G c.719T>G (p.Leu240Arg) c.713T>G (p.Leu238Arg) c.539T>G (p.Leu180Arg) c.556T>G (p.Phe186Val) | gnomAD v4 |
| 6 | g.136898172T>A | CA452231788 | PEX7 | c.834T>A (p.Leu278=) c.*99T>A (n.*99T>A) c.522T>A c.720T>A (p.Leu240=) c.714T>A (p.Leu238=) c.540T>A (p.Leu180=) c.557T>A (p.Phe186Tyr) | |
| 6 | g.136898172T>C | CA452231789 | PEX7 | c.834T>C (p.Leu278=) c.*99T>C (n.*99T>C) c.522T>C c.720T>C (p.Leu240=) c.714T>C (p.Leu238=) c.540T>C (p.Leu180=) c.557T>C (p.Phe186Ser) | |
| 6 | g.136898172T>G | CA452231790 | PEX7 | c.834T>G (p.Leu278=) c.*99T>G (n.*99T>G) c.522T>G c.720T>G (p.Leu240=) c.714T>G (p.Leu238=) c.540T>G (p.Leu180=) c.557T>G (p.Phe186Cys) | |
| 6 | g.136898173C>A | CA365766607 | PEX7 | c.835C>A (p.Leu279Ile) c.*100C>A (n.*100C>A) c.523C>A c.721C>A (p.Leu241Ile) c.715C>A (p.Leu239Ile) c.541C>A (p.Leu181Ile) c.558C>A (p.Phe186Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136898173C>G | CA365766608 | PEX7 | c.835C>G (p.Leu279Val) c.*100C>G (n.*100C>G) c.523C>G c.721C>G (p.Leu241Val) c.715C>G (p.Leu239Val) c.541C>G (p.Leu181Val) c.558C>G (p.Phe186Leu) | gnomAD v4 |
| 6 | g.136898173C>T | CA365766610 | PEX7 | c.835C>T (p.Leu279Phe) c.*100C>T (n.*100C>T) c.523C>T c.721C>T (p.Leu241Phe) c.715C>T (p.Leu239Phe) c.541C>T (p.Leu181Phe) c.558C>T (p.Phe186=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898174T>A | CA365766612 | PEX7 | c.836T>A (p.Leu279His) c.*101T>A (n.*101T>A) c.524T>A c.722T>A (p.Leu241His) c.716T>A (p.Leu239His) c.542T>A (p.Leu181His) c.559T>A (p.Leu187Met) | |
| 6 | g.136898174T>C | CA365766614 | PEX7 | c.836T>C (p.Leu279Pro) c.*101T>C (n.*101T>C) c.524T>C c.722T>C (p.Leu241Pro) c.716T>C (p.Leu239Pro) c.542T>C (p.Leu181Pro) c.559T>C (p.Leu187=) | |
| 6 | g.136898174T>G | CA365766615 | PEX7 | c.836T>G (p.Leu279Arg) c.*101T>G (n.*101T>G) c.524T>G c.722T>G (p.Leu241Arg) c.716T>G (p.Leu239Arg) c.542T>G (p.Leu181Arg) c.559T>G (p.Leu187Val) | |
| 6 | g.136898175T>A | CA452231791 | PEX7 | c.837T>A (p.Leu279=) c.*102T>A (n.*102T>A) c.525T>A c.723T>A (p.Leu241=) c.717T>A (p.Leu239=) c.543T>A (p.Leu181=) c.560T>A (p.Leu187Ter) | |
| 6 | g.136898175T>C | CA452231793 | PEX7 | c.837T>C (p.Leu279=) c.*102T>C (n.*102T>C) c.525T>C c.723T>C (p.Leu241=) c.717T>C (p.Leu239=) c.543T>C (p.Leu181=) c.560T>C (p.Leu187Ser) | |
| 6 | g.136898175T>G | CA452231792 | PEX7 | c.837T>G (p.Leu279=) c.*102T>G (n.*102T>G) c.525T>G c.723T>G (p.Leu241=) c.717T>G (p.Leu239=) c.543T>G (p.Leu181=) c.560T>G (p.Leu187Trp) | |
| 6 | g.136898176G>A | CA365766616 | PEX7 | c.838G>A (p.Glu280Lys) c.*103G>A (n.*103G>A) c.526G>A c.724G>A (p.Glu242Lys) c.718G>A (p.Glu240Lys) c.544G>A (p.Glu182Lys) c.561G>A (p.Leu187=) | |
| 6 | g.136898176G>C | CA365766618 | PEX7 | c.838G>C (p.Glu280Gln) c.*103G>C (n.*103G>C) c.526G>C c.724G>C (p.Glu242Gln) c.718G>C (p.Glu240Gln) c.544G>C (p.Glu182Gln) c.561G>C (p.Leu187Phe) | |
| 6 | g.136898176G>T | CA365766620 | PEX7 | c.838G>T (p.Glu280Ter) c.*103G>T (n.*103G>T) c.526G>T c.724G>T (p.Glu242Ter) c.718G>T (p.Glu240Ter) c.544G>T (p.Glu182Ter) c.561G>T (p.Leu187Phe) | |
| 6 | g.136898177A>C | CA365766623 | PEX7 | c.839A>C (p.Glu280Ala) c.*104A>C (n.*104A>C) c.527A>C c.725A>C (p.Glu242Ala) c.719A>C (p.Glu240Ala) c.545A>C (p.Glu182Ala) c.562A>C (p.Lys188Gln) | |
| 6 | g.136898177A>G | CA365766625 | PEX7 | c.839A>G (p.Glu280Gly) c.*104A>G (n.*104A>G) c.527A>G c.725A>G (p.Glu242Gly) c.719A>G (p.Glu240Gly) c.545A>G (p.Glu182Gly) c.562A>G (p.Lys188Glu) | |
| 6 | g.136898177A>T | CA365766622 | PEX7 | c.839A>T (p.Glu280Val) c.*104A>T (n.*104A>T) c.527A>T c.725A>T (p.Glu242Val) c.719A>T (p.Glu240Val) c.545A>T (p.Glu182Val) c.562A>T (p.Lys188Ter) | |
| 6 | g.136898178A>C | CA365766627 | PEX7 | c.840A>C (p.Glu280Asp) c.*105A>C (n.*105A>C) c.528A>C c.726A>C (p.Glu242Asp) c.720A>C (p.Glu240Asp) c.546A>C (p.Glu182Asp) c.563A>C (p.Lys188Thr) | |
| 6 | g.136898178A>G | CA452231794 | PEX7 | c.840A>G (p.Glu280=) c.*105A>G (n.*105A>G) c.528A>G c.726A>G (p.Glu242=) c.720A>G (p.Glu240=) c.546A>G (p.Glu182=) c.563A>G (p.Lys188Arg) | |
| 6 | g.136898178A>T | CA365766628 | PEX7 | c.840A>T (p.Glu280Asp) c.*105A>T (n.*105A>T) c.528A>T c.726A>T (p.Glu242Asp) c.720A>T (p.Glu240Asp) c.546A>T (p.Glu182Asp) c.563A>T (p.Lys188Ile) | |
| 6 | g.136898179A>C | CA365766630 | PEX7 | c.841A>C (p.Thr281Pro) c.*106A>C (n.*106A>C) c.529A>C c.727A>C (p.Thr243Pro) c.721A>C (p.Thr241Pro) c.547A>C (p.Thr183Pro) c.564A>C (p.Lys188Asn) | |
| 6 | g.136898179A>G | CA365766632 | PEX7 | c.841A>G (p.Thr281Ala) c.*106A>G (n.*106A>G) c.529A>G c.727A>G (p.Thr243Ala) c.721A>G (p.Thr241Ala) c.547A>G (p.Thr183Ala) c.564A>G (p.Lys188=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898179A>T | CA365766634 | PEX7 | c.841A>T (p.Thr281Ser) c.*106A>T (n.*106A>T) c.529A>T c.727A>T (p.Thr243Ser) c.721A>T (p.Thr241Ser) c.547A>T (p.Thr183Ser) c.564A>T (p.Lys188Asn) | |
| 6 | g.136898180del | CA2695207085 | PEX7 | c.842del (p.Thr281LysfsTer12) c.*107del (n.*107del) c.530del c.728del (p.Thr243LysfsTer12) c.722del (p.Thr241LysfsTer12) c.548del (p.Thr183LysfsTer12) c.565del (p.Gln189SerfsTer?) c.565del (p.Gln189SerfsTer23) | |
| 6 | g.136898180C>A | CA365766635 | PEX7 | c.842C>A (p.Thr281Lys) c.*107C>A (n.*107C>A) c.530C>A c.728C>A (p.Thr243Lys) c.722C>A (p.Thr241Lys) c.548C>A (p.Thr183Lys) c.565C>A (p.Gln189Lys) | |
| 6 | g.136898180C>G | CA365766637 | PEX7 | c.842C>G (p.Thr281Arg) c.*107C>G (n.*107C>G) c.530C>G c.728C>G (p.Thr243Arg) c.722C>G (p.Thr241Arg) c.548C>G (p.Thr183Arg) c.565C>G (p.Gln189Glu) | |
| 6 | g.136898180C>T | CA365766639 | PEX7 | c.842C>T (p.Thr281Ile) c.*107C>T (n.*107C>T) c.530C>T c.728C>T (p.Thr243Ile) c.722C>T (p.Thr241Ile) c.548C>T (p.Thr183Ile) c.565C>T (p.Gln189Ter) | |
| 6 | g.136898181A>C | CA452231795 | PEX7 | c.843A>C (p.Thr281=) c.*108A>C (n.*108A>C) c.531A>C c.729A>C (p.Thr243=) c.723A>C (p.Thr241=) c.549A>C (p.Thr183=) c.566A>C (p.Gln189Pro) | |
| 6 | g.136898181A>G | CA4017781 | PEX7 | c.843A>G (p.Thr281=) c.*108A>G (n.*108A>G) c.531A>G c.729A>G (p.Thr243=) c.723A>G (p.Thr241=) c.549A>G (p.Thr183=) c.566A>G (p.Gln189Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898181A>T | CA452231796 | PEX7 | c.843A>T (p.Thr281=) c.*108A>T (n.*108A>T) c.531A>T c.729A>T (p.Thr243=) c.723A>T (p.Thr241=) c.549A>T (p.Thr183=) c.566A>T (p.Gln189Leu) | |
| 6 | g.136898182G>A | CA365766641 | PEX7 | c.844G>A (p.Val282Met) c.*109G>A (n.*109G>A) c.532G>A c.730G>A (p.Val244Met) c.724G>A (p.Val242Met) c.550G>A (p.Val184Met) c.567G>A (p.Gln189=) | |
| 6 | g.136898182G>C | CA365766643 | PEX7 | c.844G>C (p.Val282Leu) c.*109G>C (n.*109G>C) c.532G>C c.730G>C (p.Val244Leu) c.724G>C (p.Val242Leu) c.550G>C (p.Val184Leu) c.567G>C (p.Gln189His) | |
| 6 | g.136898182G>T | CA365766645 | PEX7 | c.844G>T (p.Val282Leu) c.*109G>T (n.*109G>T) c.532G>T c.730G>T (p.Val244Leu) c.724G>T (p.Val242Leu) c.550G>T (p.Val184Leu) c.567G>T (p.Gln189His) | |
| 6 | g.136898183T>A | CA365766646 | PEX7 | c.845T>A (p.Val282Glu) c.*110T>A (n.*110T>A) c.533T>A c.731T>A (p.Val244Glu) c.725T>A (p.Val242Glu) c.551T>A (p.Val184Glu) c.568T>A (p.Trp190Arg) | |
| 6 | g.136898183T>C | CA365766648 | PEX7 | c.845T>C (p.Val282Ala) c.*110T>C (n.*110T>C) c.533T>C c.731T>C (p.Val244Ala) c.725T>C (p.Val242Ala) c.551T>C (p.Val184Ala) c.568T>C (p.Trp190Arg) | |
| 6 | g.136898183T>G | CA365766650 | PEX7 | c.845T>G (p.Val282Gly) c.*110T>G (n.*110T>G) c.533T>G c.731T>G (p.Val244Gly) c.725T>G (p.Val242Gly) c.551T>G (p.Val184Gly) c.568T>G (p.Trp190Gly) | |
| 6 | g.136898184G>A | CA452231797 | PEX7 | c.846G>A (p.Val282=) c.*111G>A (n.*111G>A) c.534G>A c.732G>A (p.Val244=) c.726G>A (p.Val242=) c.552G>A (p.Val184=) c.569G>A (p.Trp190Ter) | |
| 6 | g.136898184G>C | CA452231798 | PEX7 | c.846G>C (p.Val282=) c.*111G>C (n.*111G>C) c.534G>C c.732G>C (p.Val244=) c.726G>C (p.Val242=) c.552G>C (p.Val184=) c.569G>C (p.Trp190Ser) | |
| 6 | g.136898184G>T | CA452231799 | PEX7 | c.846G>T (p.Val282=) c.*111G>T (n.*111G>T) c.534G>T c.732G>T (p.Val244=) c.726G>T (p.Val242=) c.552G>T (p.Val184=) c.569G>T (p.Trp190Leu) | |
| 6 | g.136898185G>A | CA365766655 | PEX7 | c.847G>A (p.Glu283Lys) c.*112G>A (n.*112G>A) c.535G>A c.733G>A (p.Glu245Lys) c.727G>A (p.Glu243Lys) c.553G>A (p.Glu185Lys) c.570G>A (p.Trp190Ter) | |
| 6 | g.136898185G>C | CA365766652 | PEX7 | c.847G>C (p.Glu283Gln) c.*112G>C (n.*112G>C) c.535G>C c.733G>C (p.Glu245Gln) c.727G>C (p.Glu243Gln) c.553G>C (p.Glu185Gln) c.570G>C (p.Trp190Cys) | |
| 6 | g.136898185G>T | CA365766653 | PEX7 | c.847G>T (p.Glu283Ter) c.*112G>T (n.*112G>T) c.535G>T c.733G>T (p.Glu245Ter) c.727G>T (p.Glu243Ter) c.553G>T (p.Glu185Ter) c.570G>T (p.Trp190Cys) | |
| 6 | g.136898186A>C | CA365766657 | PEX7 | c.848A>C (p.Glu283Ala) c.*113A>C (n.*113A>C) c.536A>C c.734A>C (p.Glu245Ala) c.728A>C (p.Glu243Ala) c.554A>C (p.Glu185Ala) c.571A>C (p.Ser191Arg) | ClinVar dbSNP |
| 6 | g.136898186A>G | CA365766659 | PEX7 | c.848A>G (p.Glu283Gly) c.*113A>G (n.*113A>G) c.536A>G c.734A>G (p.Glu245Gly) c.728A>G (p.Glu243Gly) c.554A>G (p.Glu185Gly) c.571A>G (p.Ser191Gly) | |
| 6 | g.136898186A>T | CA365766660 | PEX7 | c.848A>T (p.Glu283Val) c.*113A>T (n.*113A>T) c.536A>T c.734A>T (p.Glu245Val) c.728A>T (p.Glu243Val) c.554A>T (p.Glu185Val) c.571A>T (p.Ser191Cys) | |
| 6 | g.136898187G>A | CA452231800 | PEX7 | c.849G>A (p.Glu283=) c.*114G>A (n.*114G>A) c.537G>A c.735G>A (p.Glu245=) c.729G>A (p.Glu243=) c.555G>A (p.Glu185=) c.572G>A (p.Ser191Asn) | |
| 6 | g.136898187G>C | CA365766661 | PEX7 | c.849G>C (p.Glu283Asp) c.*114G>C (n.*114G>C) c.537G>C c.735G>C (p.Glu245Asp) c.729G>C (p.Glu243Asp) c.555G>C (p.Glu185Asp) c.572G>C (p.Ser191Thr) | |
| 6 | g.136898187G>T | CA365766663 | PEX7 | c.849G>T (p.Glu283Asp) c.*114G>T (n.*114G>T) c.537G>T c.735G>T (p.Glu245Asp) c.729G>T (p.Glu243Asp) c.555G>T (p.Glu185Asp) c.572G>T (p.Ser191Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136898188C>A | CA365766665 | PEX7 | c.850C>A (p.His284Asn) c.*115C>A (n.*115C>A) c.538C>A c.736C>A (p.His246Asn) c.730C>A (p.His244Asn) c.556C>A (p.His186Asn) c.573C>A (p.Ser191Arg) | |
| 6 | g.136898188C>G | CA365766667 | PEX7 | c.850C>G (p.His284Asp) c.*115C>G (n.*115C>G) c.538C>G c.736C>G (p.His246Asp) c.730C>G (p.His244Asp) c.556C>G (p.His186Asp) c.573C>G (p.Ser191Arg) | |
| 6 | g.136898188C>T | CA148218726 | PEX7 | c.850C>T (p.His284Tyr) c.*115C>T (n.*115C>T) c.538C>T c.736C>T (p.His246Tyr) c.730C>T (p.His244Tyr) c.556C>T (p.His186Tyr) c.573C>T (p.Ser191=) | dbSNP COSMIC |
| 6 | g.136898189A>C | CA365766669 | PEX7 | c.851A>C (p.His284Pro) c.*116A>C (n.*116A>C) c.539A>C c.737A>C (p.His246Pro) c.731A>C (p.His244Pro) c.557A>C (p.His186Pro) c.574A>C (p.Ile192Leu) | |
| 6 | g.136898189A>G | CA365766670 | PEX7 | c.851A>G (p.His284Arg) c.*116A>G (n.*116A>G) c.539A>G c.737A>G (p.His246Arg) c.731A>G (p.His244Arg) c.557A>G (p.His186Arg) c.574A>G (p.Ile192Val) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898189A>T | CA365766672 | PEX7 | c.851A>T (p.His284Leu) c.*116A>T (n.*116A>T) c.539A>T c.737A>T (p.His246Leu) c.731A>T (p.His244Leu) c.557A>T (p.His186Leu) c.574A>T (p.Ile192Phe) | |
| 6 | g.136898190T>A | CA365766674 | PEX7 | c.852T>A (p.His284Gln) c.*117T>A (n.*117T>A) c.540T>A c.738T>A (p.His246Gln) c.732T>A (p.His244Gln) c.558T>A (p.His186Gln) c.575T>A (p.Ile192Asn) | |
| 6 | g.136898190T>C | CA452231801 | PEX7 | c.852T>C (p.His284=) c.*117T>C (n.*117T>C) c.540T>C c.738T>C (p.His246=) c.732T>C (p.His244=) c.558T>C (p.His186=) c.575T>C (p.Ile192Thr) | |
| 6 | g.136898190T>G | CA148218727 | PEX7 | c.852T>G (p.His284Gln) c.*117T>G (n.*117T>G) c.540T>G c.738T>G (p.His246Gln) c.732T>G (p.His244Gln) c.558T>G (p.His186Gln) c.575T>G (p.Ile192Ser) | dbSNP |
| 6 | g.136898191C>A | CA365766676 | PEX7 | c.853C>A (p.His285Asn) c.*118C>A (n.*118C>A) c.541C>A c.739C>A (p.His247Asn) c.733C>A (p.His245Asn) c.559C>A (p.His187Asn) c.576C>A (p.Ile192=) | |
| 6 | g.136898191C>G | CA365766679 | PEX7 | c.853C>G (p.His285Asp) c.*118C>G (n.*118C>G) c.541C>G c.739C>G (p.His247Asp) c.733C>G (p.His245Asp) c.559C>G (p.His187Asp) c.576C>G (p.Ile192Met) | |
| 6 | g.136898191C>T | CA365766678 | PEX7 | c.853C>T (p.His285Tyr) c.*118C>T (n.*118C>T) c.541C>T c.739C>T (p.His247Tyr) c.733C>T (p.His245Tyr) c.559C>T (p.His187Tyr) c.576C>T (p.Ile192=) | |
| 6 | g.136898192A>C | CA365766681 | PEX7 | c.854A>C (p.His285Pro) c.*119A>C (n.*119A>C) c.542A>C c.740A>C (p.His247Pro) c.734A>C (p.His245Pro) c.560A>C (p.His187Pro) c.577A>C (p.Ile193Leu) | |
| 6 | g.136898192A>G | CA343128 | PEX7 | c.854A>G (p.His285Arg) c.*119A>G (n.*119A>G) c.542A>G c.740A>G (p.His247Arg) c.734A>G (p.His245Arg) c.560A>G (p.His187Arg) c.577A>G (p.Ile193Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136898192A>T | CA365766684 | PEX7 | c.854A>T (p.His285Leu) c.*119A>T (n.*119A>T) c.542A>T c.740A>T (p.His247Leu) c.734A>T (p.His245Leu) c.560A>T (p.His187Leu) c.577A>T (p.Ile193Leu) | |
| 6 | g.136898193T>A | CA365766685 | PEX7 | c.855T>A (p.His285Gln) c.*120T>A (n.*120T>A) c.543T>A c.741T>A (p.His247Gln) c.735T>A (p.His245Gln) c.561T>A (p.His187Gln) c.578T>A (p.Ile193Lys) | |
| 6 | g.136898193T>C | CA452231802 | PEX7 | c.855T>C (p.His285=) c.*120T>C (n.*120T>C) c.543T>C c.741T>C (p.His247=) c.735T>C (p.His245=) c.561T>C (p.His187=) c.578T>C (p.Ile193Thr) | ClinVar dbSNP |
| 6 | g.136898193T>G | CA365766687 | PEX7 | c.855T>G (p.His285Gln) c.*120T>G (n.*120T>G) c.543T>G c.741T>G (p.His247Gln) c.735T>G (p.His245Gln) c.561T>G (p.His187Gln) c.578T>G (p.Ile193Arg) | |
| 6 | g.136898194A>C | CA365766692 | PEX7 | c.856A>C (p.Thr286Pro) c.*121A>C (n.*121A>C) c.544A>C c.742A>C (p.Thr248Pro) c.736A>C (p.Thr246Pro) c.562A>C (p.Thr188Pro) c.579A>C (p.Ile193=) | |
| 6 | g.136898194A>G | CA365766691 | PEX7 | c.856A>G (p.Thr286Ala) c.*121A>G (n.*121A>G) c.544A>G c.742A>G (p.Thr248Ala) c.736A>G (p.Thr246Ala) c.562A>G (p.Thr188Ala) c.579A>G (p.Ile193Met) | gnomAD v4 |
| 6 | g.136898194A>T | CA365766690 | PEX7 | c.856A>T (p.Thr286Ser) c.*121A>T (n.*121A>T) c.544A>T c.742A>T (p.Thr248Ser) c.736A>T (p.Thr246Ser) c.562A>T (p.Thr188Ser) c.579A>T (p.Ile193=) | |
| 6 | g.136898195C>A | CA365766694 | PEX7 | c.857C>A (p.Thr286Lys) c.*122C>A (n.*122C>A) c.545C>A c.743C>A (p.Thr248Lys) c.737C>A (p.Thr246Lys) c.563C>A (p.Thr188Lys) c.580C>A (p.Gln194Lys) | |
| 6 | g.136898195C>G | CA365766696 | PEX7 | c.857C>G (p.Thr286Arg) c.*122C>G (n.*122C>G) c.545C>G c.743C>G (p.Thr248Arg) c.737C>G (p.Thr246Arg) c.563C>G (p.Thr188Arg) c.580C>G (p.Gln194Glu) | |
| 6 | g.136898195C>T | CA365766698 | PEX7 | c.857C>T (p.Thr286Ile) c.*122C>T (n.*122C>T) c.545C>T c.743C>T (p.Thr248Ile) c.737C>T (p.Thr246Ile) c.563C>T (p.Thr188Ile) c.580C>T (p.Gln194Ter) | |
| 6 | g.136898196A>C | CA452231803 | PEX7 | c.858A>C (p.Thr286=) c.*123A>C (n.*123A>C) c.546A>C c.744A>C (p.Thr248=) c.738A>C (p.Thr246=) c.564A>C (p.Thr188=) c.581A>C (p.Gln194Pro) | |
| 6 | g.136898196A>G | CA452231805 | PEX7 | c.858A>G (p.Thr286=) c.*123A>G (n.*123A>G) c.546A>G c.744A>G (p.Thr248=) c.738A>G (p.Thr246=) c.564A>G (p.Thr188=) c.581A>G (p.Gln194Arg) | ClinVar |
| 6 | g.136898196A>T | CA452231804 | PEX7 | c.858A>T (p.Thr286=) c.*123A>T (n.*123A>T) c.546A>T c.744A>T (p.Thr248=) c.738A>T (p.Thr246=) c.564A>T (p.Thr188=) c.581A>T (p.Gln194Leu) | |
| 6 | g.136898198_136898199del | CA2580615783 | PEX7 | c.860_861del (p.Glu287ValfsTer17) c.*125_*126del (n.*125_*126del) c.548_549del c.746_747del (p.Glu249ValfsTer17) c.740_741del (p.Glu247ValfsTer17) c.566_567del (p.Glu189ValfsTer17) c.583_584del (p.Ser195PhefsTer?) | ClinVar dbSNP |
| 6 | g.136898196_136898205del | CA570576432 | PEX7 | c.858_867del (p.Glu287ValfsTer3) c.*123_*132del (n.*123_*132del) c.546_555del c.744_753del (p.Glu249ValfsTer3) c.738_747del (p.Glu247ValfsTer3) c.564_573del (p.Glu189ValfsTer3) c.581_590del (p.Gln194LeufsTer?) c.581_590del (p.Gln194LeufsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898197G>A | CA365766699 | PEX7 | c.859G>A (p.Glu287Lys) c.*124G>A (n.*124G>A) c.547G>A c.745G>A (p.Glu249Lys) c.739G>A (p.Glu247Lys) c.565G>A (p.Glu189Lys) c.582G>A (p.Gln194=) | |
| 6 | g.136898197G>C | CA365766701 | PEX7 | c.859G>C (p.Glu287Gln) c.*124G>C (n.*124G>C) c.547G>C c.745G>C (p.Glu249Gln) c.739G>C (p.Glu247Gln) c.565G>C (p.Glu189Gln) c.582G>C (p.Gln194His) | |
| 6 | g.136898197G>T | CA365766703 | PEX7 | c.859G>T (p.Glu287Ter) c.*124G>T (n.*124G>T) c.547G>T c.745G>T (p.Glu249Ter) c.739G>T (p.Glu247Ter) c.565G>T (p.Glu189Ter) c.582G>T (p.Gln194His) | |
| 6 | g.136898198A>C | CA365766705 | PEX7 | c.860A>C (p.Glu287Ala) c.*125A>C (n.*125A>C) c.548A>C c.746A>C (p.Glu249Ala) c.740A>C (p.Glu247Ala) c.566A>C (p.Glu189Ala) c.583A>C (p.Ser195Arg) | |
| 6 | g.136898198A>G | CA365766708 | PEX7 | c.860A>G (p.Glu287Gly) c.*125A>G (n.*125A>G) c.548A>G c.746A>G (p.Glu249Gly) c.740A>G (p.Glu247Gly) c.566A>G (p.Glu189Gly) c.583A>G (p.Ser195Gly) | |
| 6 | g.136898198A>T | CA365766706 | PEX7 | c.860A>T (p.Glu287Val) c.*125A>T (n.*125A>T) c.548A>T c.746A>T (p.Glu249Val) c.740A>T (p.Glu247Val) c.566A>T (p.Glu189Val) c.583A>T (p.Ser195Cys) | |
| 6 | g.136898199G>A | CA452231806 | PEX7 | c.861G>A (p.Glu287=) c.*126G>A (n.*126G>A) c.549G>A c.747G>A (p.Glu249=) c.741G>A (p.Glu247=) c.567G>A (p.Glu189=) c.584G>A (p.Ser195Asn) | ClinVar gnomAD v4 |
| 6 | g.136898199G>C | CA365766710 | PEX7 | c.861G>C (p.Glu287Asp) c.*126G>C (n.*126G>C) c.549G>C c.747G>C (p.Glu249Asp) c.741G>C (p.Glu247Asp) c.567G>C (p.Glu189Asp) c.584G>C (p.Ser195Thr) | |
| 6 | g.136898199G>T | CA365766711 | PEX7 | c.861G>T (p.Glu287Asp) c.*126G>T (n.*126G>T) c.549G>T c.747G>T (p.Glu249Asp) c.741G>T (p.Glu247Asp) c.567G>T (p.Glu189Asp) c.584G>T (p.Ser195Ile) | |
| 6 | g.136898200T>A | CA365766713 | PEX7 | c.862T>A (p.Phe288Ile) c.*127T>A (n.*127T>A) c.550T>A c.748T>A (p.Phe250Ile) c.742T>A (p.Phe248Ile) c.568T>A (p.Phe190Ile) c.585T>A (p.Ser195Arg) | |
| 6 | g.136898200T>C | CA365766715 | PEX7 | c.862T>C (p.Phe288Leu) c.*127T>C (n.*127T>C) c.550T>C c.748T>C (p.Phe250Leu) c.742T>C (p.Phe248Leu) c.568T>C (p.Phe190Leu) c.585T>C (p.Ser195=) | |
| 6 | g.136898200T>G | CA365766716 | PEX7 | c.862T>G (p.Phe288Val) c.*127T>G (n.*127T>G) c.550T>G c.748T>G (p.Phe250Val) c.742T>G (p.Phe248Val) c.568T>G (p.Phe190Val) c.585T>G (p.Ser195Arg) | |
| 6 | g.136898202del | CA2695207086 | PEX7 | c.864del (p.Phe288LeufsTer5) c.*129del (n.*129del) c.552del c.750del (p.Phe250LeufsTer5) c.744del (p.Phe248LeufsTer5) c.570del (p.Phe190LeufsTer5) c.587del (p.Leu196TyrfsTer?) c.587del (p.Leu196TyrfsTer16) | |
| 6 | g.136898201T>A | CA365766718 | PEX7 | c.863T>A (p.Phe288Tyr) c.*128T>A (n.*128T>A) c.551T>A c.749T>A (p.Phe250Tyr) c.743T>A (p.Phe248Tyr) c.569T>A (p.Phe190Tyr) c.586T>A (p.Leu196Ile) | |
| 6 | g.136898201T>C | CA365766719 | PEX7 | c.863T>C (p.Phe288Ser) c.*128T>C (n.*128T>C) c.551T>C c.749T>C (p.Phe250Ser) c.743T>C (p.Phe248Ser) c.569T>C (p.Phe190Ser) c.586T>C (p.Leu196=) | |
| 6 | g.136898201T>G | CA365766721 | PEX7 | c.863T>G (p.Phe288Cys) c.*128T>G (n.*128T>G) c.551T>G c.749T>G (p.Phe250Cys) c.743T>G (p.Phe248Cys) c.569T>G (p.Phe190Cys) c.586T>G (p.Leu196Val) | |
| 6 | g.136898202T>A | CA365766723 | PEX7 | c.864T>A (p.Phe288Leu) c.*129T>A (n.*129T>A) c.552T>A c.750T>A (p.Phe250Leu) c.744T>A (p.Phe248Leu) c.570T>A (p.Phe190Leu) c.587T>A (p.Leu196Ter) | |
| 6 | g.136898202T>C | CA452231807 | PEX7 | c.864T>C (p.Phe288=) c.*129T>C (n.*129T>C) c.552T>C c.750T>C (p.Phe250=) c.744T>C (p.Phe248=) c.570T>C (p.Phe190=) c.587T>C (p.Leu196Ser) | |
| 6 | g.136898202T>G | CA365766725 | PEX7 | c.864T>G (p.Phe288Leu) c.*129T>G (n.*129T>G) c.552T>G c.750T>G (p.Phe250Leu) c.744T>G (p.Phe248Leu) c.570T>G (p.Phe190Leu) c.587T>G (p.Leu196Ter) | |
| 6 | g.136898203A>C | CA365766727 | PEX7 | c.865A>C (p.Thr289Pro) c.*130A>C (n.*130A>C) c.553A>C c.751A>C (p.Thr251Pro) c.745A>C (p.Thr249Pro) c.571A>C (p.Thr191Pro) c.588A>C (p.Leu196Phe) | |
| 6 | g.136898203A>G | CA365766730 | PEX7 | c.865A>G (p.Thr289Ala) c.*130A>G (n.*130A>G) c.553A>G c.751A>G (p.Thr251Ala) c.745A>G (p.Thr249Ala) c.571A>G (p.Thr191Ala) c.588A>G (p.Leu196=) | gnomAD v4 |
| 6 | g.136898203A>T | CA365766729 | PEX7 | c.865A>T (p.Thr289Ser) c.*130A>T (n.*130A>T) c.553A>T c.751A>T (p.Thr251Ser) c.745A>T (p.Thr249Ser) c.571A>T (p.Thr191Ser) c.588A>T (p.Leu196Phe) | |
| 6 | g.136898204C>A | CA365766731 | PEX7 | c.866C>A (p.Thr289Asn) c.*131C>A (n.*131C>A) c.554C>A c.752C>A (p.Thr251Asn) c.746C>A (p.Thr249Asn) c.572C>A (p.Thr191Asn) c.589C>A (p.Leu197Ile) | |
| 6 | g.136898204C>G | CA365766735 | PEX7 | c.866C>G (p.Thr289Ser) c.*131C>G (n.*131C>G) c.554C>G c.752C>G (p.Thr251Ser) c.746C>G (p.Thr249Ser) c.572C>G (p.Thr191Ser) c.589C>G (p.Leu197Val) | |
| 6 | g.136898204C>T | CA365766733 | PEX7 | c.866C>T (p.Thr289Ile) c.*131C>T (n.*131C>T) c.554C>T c.752C>T (p.Thr251Ile) c.746C>T (p.Thr249Ile) c.572C>T (p.Thr191Ile) c.589C>T (p.Leu197Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898205T>A | CA452231808 | PEX7 | c.867T>A (p.Thr289=) c.*132T>A (n.*132T>A) c.555T>A c.753T>A (p.Thr251=) c.747T>A (p.Thr249=) c.573T>A (p.Thr191=) c.590T>A (p.Leu197His) | |
| 6 | g.136898205T>C | CA148218739 | PEX7 | c.867T>C (p.Thr289=) c.*132T>C (n.*132T>C) c.555T>C c.753T>C (p.Thr251=) c.747T>C (p.Thr249=) c.573T>C (p.Thr191=) c.590T>C (p.Leu197Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898205T>G | CA452231809 | PEX7 | c.867T>G (p.Thr289=) c.*132T>G (n.*132T>G) c.555T>G c.753T>G (p.Thr251=) c.747T>G (p.Thr249=) c.573T>G (p.Thr191=) c.590T>G (p.Leu197Arg) | |
| 6 | g.136898206T>A | CA365766736 | PEX7 | c.868T>A (p.Cys290Ser) c.*133T>A (n.*133T>A) c.556T>A c.754T>A (p.Cys252Ser) c.748T>A (p.Cys250Ser) c.574T>A (p.Cys192Ser) c.591T>A (p.Leu197=) | |
| 6 | g.136898206T>C | CA365766738 | PEX7 | c.868T>C (p.Cys290Arg) c.*133T>C (n.*133T>C) c.556T>C c.754T>C (p.Cys252Arg) c.748T>C (p.Cys250Arg) c.574T>C (p.Cys192Arg) c.591T>C (p.Leu197=) | |
| 6 | g.136898206T>G | CA365766739 | PEX7 | c.868T>G (p.Cys290Gly) c.*133T>G (n.*133T>G) c.556T>G c.754T>G (p.Cys252Gly) c.748T>G (p.Cys250Gly) c.574T>G (p.Cys192Gly) c.591T>G (p.Leu197=) | gnomAD v4 |
| 6 | g.136898207_136898211del | CA913109574 | PEX7 | c.869_873del (p.Cys290PhefsTer13) c.*134_*138del (n.*134_*138del) c.557_561del c.755_759del (p.Cys252PhefsTer13) c.749_753del (p.Cys250PhefsTer13) c.575_579del (p.Cys192PhefsTer13) c.592_596del (p.Val198LeufsTer?) | |
| 6 | g.136898207G>A | CA365766741 | PEX7 | c.869G>A (p.Cys290Tyr) c.*134G>A (n.*134G>A) c.557G>A c.755G>A (p.Cys252Tyr) c.749G>A (p.Cys250Tyr) c.575G>A (p.Cys192Tyr) c.592G>A (p.Val198Met) | dbSNP gnomAD v2 |
| 6 | g.136898207G>C | CA365766743 | PEX7 | c.869G>C (p.Cys290Ser) c.*134G>C (n.*134G>C) c.557G>C c.755G>C (p.Cys252Ser) c.749G>C (p.Cys250Ser) c.575G>C (p.Cys192Ser) c.592G>C (p.Val198Leu) | |
| 6 | g.136898207G>T | CA365766745 | PEX7 | c.869G>T (p.Cys290Phe) c.*134G>T (n.*134G>T) c.557G>T c.755G>T (p.Cys252Phe) c.749G>T (p.Cys250Phe) c.575G>T (p.Cys192Phe) c.592G>T (p.Val198Leu) | |
| 6 | g.136898208T>A | CA365766746 | PEX7 | c.870T>A (p.Cys290Ter) c.*135T>A (n.*135T>A) c.558T>A c.756T>A (p.Cys252Ter) c.750T>A (p.Cys250Ter) c.576T>A (p.Cys192Ter) c.593T>A (p.Val198Glu) | |
| 6 | g.136898208T>C | CA452231810 | PEX7 | c.870T>C (p.Cys290=) c.*135T>C (n.*135T>C) c.558T>C c.756T>C (p.Cys252=) c.750T>C (p.Cys250=) c.576T>C (p.Cys192=) c.593T>C (p.Val198Ala) | ClinVar gnomAD v4 |
| 6 | g.136898208T>G | CA365766748 | PEX7 | c.870T>G (p.Cys290Trp) c.*135T>G (n.*135T>G) c.558T>G c.756T>G (p.Cys252Trp) c.750T>G (p.Cys250Trp) c.576T>G (p.Cys192Trp) c.593T>G (p.Val198Gly) | |
| 6 | g.136898209_136898212del | CA658823310 | PEX7 | c.871_874del (p.Gly291Ter) c.*136_*139del (n.*136_*139del) c.559_562del c.757_760del (p.Gly253Ter) c.751_754del (p.Gly251Ter) c.577_580del (p.Gly193Ter) c.594_597del (p.Val199ArgfsTer?) c.594_597del (p.Val199ArgfsTer12) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136898208_136898209insCAA | CA148218743 | PEX7 | c.870_871insCAA (p.Cys290_Gly291insGln) c.*135_*136insCAA (n.*135_*136insCAA) c.558_559insCAA c.756_757insCAA (p.Cys252_Gly253insGln) c.750_751insCAA (p.Cys250_Gly251insGln) c.576_577insCAA (p.Cys192_Gly193insGln) c.593_594insCAA (p.Val198_Val199insLys) | ClinVar dbSNP |
| 6 | g.136898209G>A | CA365766750 | PEX7 | c.871G>A (p.Gly291Ser) c.*136G>A (n.*136G>A) c.559G>A c.757G>A (p.Gly253Ser) c.751G>A (p.Gly251Ser) c.577G>A (p.Gly193Ser) c.594G>A (p.Val198=) | |
| 6 | g.136898209G>C | CA365766752 | PEX7 | c.871G>C (p.Gly291Arg) c.*136G>C (n.*136G>C) c.559G>C c.757G>C (p.Gly253Arg) c.751G>C (p.Gly251Arg) c.577G>C (p.Gly193Arg) c.594G>C (p.Val198=) | |
| 6 | g.136898209G>T | CA365766754 | PEX7 | c.871G>T (p.Gly291Cys) c.*136G>T (n.*136G>T) c.559G>T c.757G>T (p.Gly253Cys) c.751G>T (p.Gly251Cys) c.577G>T (p.Gly193Cys) c.594G>T (p.Val198=) | |
| 6 | g.136898210G>A | CA365766759 | PEX7 | c.872G>A (p.Gly291Asp) c.*137G>A (n.*137G>A) c.560G>A c.758G>A (p.Gly253Asp) c.752G>A (p.Gly251Asp) c.578G>A (p.Gly193Asp) c.595G>A (p.Val199Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898210G>C | CA365766756 | PEX7 | c.872G>C (p.Gly291Ala) c.*137G>C (n.*137G>C) c.560G>C c.758G>C (p.Gly253Ala) c.752G>C (p.Gly251Ala) c.578G>C (p.Gly193Ala) c.595G>C (p.Val199Leu) | |
| 6 | g.136898210G>T | CA365766757 | PEX7 | c.872G>T (p.Gly291Val) c.*137G>T (n.*137G>T) c.560G>T c.758G>T (p.Gly253Val) c.752G>T (p.Gly251Val) c.578G>T (p.Gly193Val) c.595G>T (p.Val199Phe) | |
| 6 | g.136898211T>A | CA452231811 | PEX7 | c.873T>A (p.Gly291=) c.*138T>A (n.*138T>A) c.561T>A c.759T>A (p.Gly253=) c.753T>A (p.Gly251=) c.579T>A (p.Gly193=) c.596T>A (p.Val199Asp) | |
| 6 | g.136898211T>C | CA452231813 | PEX7 | c.873T>C (p.Gly291=) c.*138T>C (n.*138T>C) c.561T>C c.759T>C (p.Gly253=) c.753T>C (p.Gly251=) c.579T>C (p.Gly193=) c.596T>C (p.Val199Ala) | |
| 6 | g.136898211T>G | CA452231812 | PEX7 | c.873T>G (p.Gly291=) c.*138T>G (n.*138T>G) c.561T>G c.759T>G (p.Gly253=) c.753T>G (p.Gly251=) c.579T>G (p.Gly193=) c.596T>G (p.Val199Gly) | |
| 6 | g.136898213del | CA2680490257 | PEX7 | c.875del (p.Leu292Ter) c.*140del (n.*140del) c.563del c.761del (p.Leu254Ter) c.755del (p.Leu252Ter) c.581del (p.Leu194Ter) c.598del (p.Ter200ArgextTer?) c.598del (p.Ter200ArgextTer12) | gnomAD v4 |
| 6 | g.136898212T>A | CA365766761 | PEX7 | c.874T>A (p.Leu292Ile) c.*139T>A (n.*139T>A) c.562T>A c.760T>A (p.Leu254Ile) c.754T>A (p.Leu252Ile) c.580T>A (p.Leu194Ile) c.597T>A (p.Val199=) | |
| 6 | g.136898212T>C | CA452231814 | PEX7 | c.874T>C (p.Leu292=) c.*139T>C (n.*139T>C) c.562T>C c.760T>C (p.Leu254=) c.754T>C (p.Leu252=) c.580T>C (p.Leu194=) c.597T>C (p.Val199=) | |
| 6 | g.136898212T>G | CA365766763 | PEX7 | c.874T>G (p.Leu292Val) c.*139T>G (n.*139T>G) c.562T>G c.760T>G (p.Leu254Val) c.754T>G (p.Leu252Val) c.580T>G (p.Leu194Val) c.597T>G (p.Val199=) | |
| 6 | g.136898213T>A | CA340698 | PEX7 | c.875T>A (p.Leu292Ter) c.*140T>A (n.*140T>A) c.563T>A c.761T>A (p.Leu254Ter) c.755T>A (p.Leu252Ter) c.581T>A (p.Leu194Ter) c.598T>A (p.Ter200Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898213T>C | CA365766765 | PEX7 | c.875T>C (p.Leu292Ser) c.*140T>C (n.*140T>C) c.563T>C c.761T>C (p.Leu254Ser) c.755T>C (p.Leu252Ser) c.581T>C (p.Leu194Ser) c.598T>C (p.Ter200Gln) | |
| 6 | g.136898213T>G | CA365766766 | PEX7 | c.875T>G (p.Leu292Ter) c.*140T>G (n.*140T>G) c.563T>G c.761T>G (p.Leu254Ter) c.755T>G (p.Leu252Ter) c.581T>G (p.Leu194Ter) c.598T>G (p.Ter200Glu) | |
| 6 | g.136898214A>C | CA365766768 | PEX7 | c.876A>C (p.Leu292Phe) c.*141A>C (n.*141A>C) c.564A>C c.762A>C (p.Leu254Phe) c.756A>C (p.Leu252Phe) c.582A>C (p.Leu194Phe) c.599A>C (p.Ter200Ser) | |
| 6 | g.136898214A>G | CA452231815 | PEX7 | c.876A>G (p.Leu292=) c.*141A>G (n.*141A>G) c.564A>G c.762A>G (p.Leu254=) c.756A>G (p.Leu252=) c.582A>G (p.Leu194=) c.599A>G (p.Ter200Trp) | ClinVar |
| 6 | g.136898214A>T | CA365766770 | PEX7 | c.876A>T (p.Leu292Phe) c.*141A>T (n.*141A>T) c.564A>T c.762A>T (p.Leu254Phe) c.756A>T (p.Leu252Phe) c.582A>T (p.Leu194Phe) c.599A>T (p.Ter200Leu) | |
| 6 | g.136898215G>A | CA365766772 | PEX7 | c.877G>A (p.Asp293Asn) c.*142G>A (n.*142G>A) c.565G>A c.763G>A (p.Asp255Asn) c.757G>A (p.Asp253Asn) c.583G>A (p.Asp195Asn) c.600G>A (p.Ter200=) | |
| 6 | g.136898215G>C | CA365766773 | PEX7 | c.877G>C (p.Asp293His) c.*142G>C (n.*142G>C) c.565G>C c.763G>C (p.Asp255His) c.757G>C (p.Asp253His) c.583G>C (p.Asp195His) c.600G>C (p.Ter200Tyr) | gnomAD v4 |
| 6 | g.136898215G>T | CA365766774 | PEX7 | c.877G>T (p.Asp293Tyr) c.*142G>T (n.*142G>T) c.565G>T c.763G>T (p.Asp255Tyr) c.757G>T (p.Asp253Tyr) c.583G>T (p.Asp195Tyr) c.600G>T (p.Ter200Tyr) | |
| 6 | g.136898216A>C | CA365766780 | PEX7 | c.878A>C (p.Asp293Ala) c.*143A>C (n.*143A>C) c.566A>C c.764A>C (p.Asp255Ala) c.758A>C (p.Asp253Ala) c.584A>C (p.Asp195Ala) c.*1A>C (n.*1A>C) | |
| 6 | g.136898216A>G | CA365766778 | PEX7 | c.878A>G (p.Asp293Gly) c.*143A>G (n.*143A>G) c.566A>G c.764A>G (p.Asp255Gly) c.758A>G (p.Asp253Gly) c.584A>G (p.Asp195Gly) c.*1A>G (n.*1A>G) | |
| 6 | g.136898216A>T | CA365766776 | PEX7 | c.878A>T (p.Asp293Val) c.*143A>T (n.*143A>T) c.566A>T c.764A>T (p.Asp255Val) c.758A>T (p.Asp253Val) c.584A>T (p.Asp195Val) c.*1A>T (n.*1A>T) | |
| 6 | g.136898217C>A | CA365766781 | PEX7 | c.879C>A (p.Asp293Glu) c.*144C>A (n.*144C>A) c.567C>A c.765C>A (p.Asp255Glu) c.759C>A (p.Asp253Glu) c.585C>A (p.Asp195Glu) c.*2C>A (n.*2C>A) | ClinVar gnomAD v4 |
| 6 | g.136898217C>G | CA365766782 | PEX7 | c.879C>G (p.Asp293Glu) c.*144C>G (n.*144C>G) c.567C>G c.765C>G (p.Asp255Glu) c.759C>G (p.Asp253Glu) c.585C>G (p.Asp195Glu) c.*2C>G (n.*2C>G) | |
| 6 | g.136898217C>T | CA452231816 | PEX7 | c.879C>T (p.Asp293=) c.*144C>T (n.*144C>T) c.567C>T c.765C>T (p.Asp255=) c.759C>T (p.Asp253=) c.585C>T (p.Asp195=) c.*2C>T (n.*2C>T) | |
| 6 | g.136898218T>A | CA365766785 | PEX7 | c.880T>A (p.Phe294Ile) c.*145T>A (n.*145T>A) c.568T>A c.766T>A (p.Phe256Ile) c.760T>A (p.Phe254Ile) c.586T>A (p.Phe196Ile) c.*3T>A (n.*3T>A) | |
| 6 | g.136898218T>C | CA365766786 | PEX7 | c.880T>C (p.Phe294Leu) c.*145T>C (n.*145T>C) c.568T>C c.766T>C (p.Phe256Leu) c.760T>C (p.Phe254Leu) c.586T>C (p.Phe196Leu) c.*3T>C (n.*3T>C) | ClinVar dbSNP |
| 6 | g.136898218T>G | CA365766787 | PEX7 | c.880T>G (p.Phe294Val) c.*145T>G (n.*145T>G) c.568T>G c.766T>G (p.Phe256Val) c.760T>G (p.Phe254Val) c.586T>G (p.Phe196Val) c.*3T>G (n.*3T>G) | |
| 6 | g.136898219T>A | CA365766789 | PEX7 | c.881T>A (p.Phe294Tyr) c.*146T>A (n.*146T>A) c.569T>A c.767T>A (p.Phe256Tyr) c.761T>A (p.Phe254Tyr) c.587T>A (p.Phe196Tyr) c.*4T>A (n.*4T>A) | |
| 6 | g.136898219T>C | CA365766791 | PEX7 | c.881T>C (p.Phe294Ser) c.*146T>C (n.*146T>C) c.569T>C c.767T>C (p.Phe256Ser) c.761T>C (p.Phe254Ser) c.587T>C (p.Phe196Ser) c.*4T>C (n.*4T>C) | |
| 6 | g.136898219T>G | CA365766793 | PEX7 | c.881T>G (p.Phe294Cys) c.*146T>G (n.*146T>G) c.569T>G c.767T>G (p.Phe256Cys) c.761T>G (p.Phe254Cys) c.587T>G (p.Phe196Cys) c.*4T>G (n.*4T>G) | |
| 6 | g.136898220C>A | CA365766794 | PEX7 | c.882C>A (p.Phe294Leu) c.*147C>A (n.*147C>A) c.570C>A c.768C>A (p.Phe256Leu) c.762C>A (p.Phe254Leu) c.588C>A (p.Phe196Leu) c.*5C>A (n.*5C>A) | |
| 6 | g.136898220C>G | CA365766796 | PEX7 | c.882C>G (p.Phe294Leu) c.*147C>G (n.*147C>G) c.570C>G c.768C>G (p.Phe256Leu) c.762C>G (p.Phe254Leu) c.588C>G (p.Phe196Leu) c.*5C>G (n.*5C>G) | |
| 6 | g.136898220C>T | CA452231817 | PEX7 | c.882C>T (p.Phe294=) c.*147C>T (n.*147C>T) c.570C>T c.768C>T (p.Phe256=) c.762C>T (p.Phe254=) c.588C>T (p.Phe196=) c.*5C>T (n.*5C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.136898221A>C | CA365766798 | PEX7 | c.883A>C (p.Ser295Arg) c.*148A>C (n.*148A>C) c.571A>C c.769A>C (p.Ser257Arg) c.763A>C (p.Ser255Arg) c.589A>C (p.Ser197Arg) c.*6A>C (n.*6A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898221A>G | CA365766800 | PEX7 | c.883A>G (p.Ser295Gly) c.*148A>G (n.*148A>G) c.571A>G c.769A>G (p.Ser257Gly) c.763A>G (p.Ser255Gly) c.589A>G (p.Ser197Gly) c.*6A>G (n.*6A>G) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136898221A>T | CA365766801 | PEX7 | c.883A>T (p.Ser295Cys) c.*148A>T (n.*148A>T) c.571A>T c.769A>T (p.Ser257Cys) c.763A>T (p.Ser255Cys) c.589A>T (p.Ser197Cys) c.*6A>T (n.*6A>T) | |
| 6 | g.136898222G>A | CA365766806 | PEX7 | c.884G>A (p.Ser295Asn) c.*149G>A (n.*149G>A) c.572G>A c.770G>A (p.Ser257Asn) c.764G>A (p.Ser255Asn) c.590G>A (p.Ser197Asn) c.*7G>A (n.*7G>A) | |
| 6 | g.136898222G>C | CA365766802 | PEX7 | c.884G>C (p.Ser295Thr) c.*149G>C (n.*149G>C) c.572G>C c.770G>C (p.Ser257Thr) c.764G>C (p.Ser255Thr) c.590G>C (p.Ser197Thr) c.*7G>C (n.*7G>C) | |
| 6 | g.136898222G>T | CA365766804 | PEX7 | c.884G>T (p.Ser295Ile) c.*149G>T (n.*149G>T) c.572G>T c.770G>T (p.Ser257Ile) c.764G>T (p.Ser255Ile) c.590G>T (p.Ser197Ile) c.*7G>T (n.*7G>T) | |
| 6 | g.136898223T>A | CA365766807 | PEX7 | c.885T>A (p.Ser295Arg) c.*150T>A (n.*150T>A) c.573T>A c.771T>A (p.Ser257Arg) c.765T>A (p.Ser255Arg) c.591T>A (p.Ser197Arg) c.*8T>A (n.*8T>A) | |
| 6 | g.136898223T>C | CA452231818 | PEX7 | c.885T>C (p.Ser295=) c.*150T>C (n.*150T>C) c.573T>C c.771T>C (p.Ser257=) c.765T>C (p.Ser255=) c.591T>C (p.Ser197=) c.*8T>C (n.*8T>C) | |
| 6 | g.136898223T>G | CA365766809 | PEX7 | c.885T>G (p.Ser295Arg) c.*150T>G (n.*150T>G) c.573T>G c.771T>G (p.Ser257Arg) c.765T>G (p.Ser255Arg) c.591T>G (p.Ser197Arg) c.*8T>G (n.*8T>G) | |
| 6 | g.136898224C>A | CA365766811 | PEX7 | c.886C>A (p.Leu296Ile) c.*151C>A (n.*151C>A) c.574C>A c.772C>A (p.Leu258Ile) c.766C>A (p.Leu256Ile) c.592C>A (p.Leu198Ile) c.*9C>A (n.*9C>A) | gnomAD v4 |
| 6 | g.136898224C>G | CA365766813 | PEX7 | c.886C>G (p.Leu296Val) c.*151C>G (n.*151C>G) c.574C>G c.772C>G (p.Leu258Val) c.766C>G (p.Leu256Val) c.592C>G (p.Leu198Val) c.*9C>G (n.*9C>G) | |
| 6 | g.136898224C>T | CA247954 | PEX7 | c.886C>T (p.Leu296Phe) c.*151C>T (n.*151C>T) c.574C>T c.772C>T (p.Leu258Phe) c.766C>T (p.Leu256Phe) c.592C>T (p.Leu198Phe) c.*9C>T (n.*9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898225T>A | CA365766815 | PEX7 | c.887T>A (p.Leu296His) c.*152T>A (n.*152T>A) c.575T>A c.773T>A (p.Leu258His) c.767T>A (p.Leu256His) c.593T>A (p.Leu198His) c.*10T>A (n.*10T>A) | |
| 6 | g.136898225T>C | CA365766817 | PEX7 | c.887T>C (p.Leu296Pro) c.*152T>C (n.*152T>C) c.575T>C c.773T>C (p.Leu258Pro) c.767T>C (p.Leu256Pro) c.593T>C (p.Leu198Pro) c.*10T>C (n.*10T>C) | |
| 6 | g.136898225T>G | CA365766818 | PEX7 | c.887T>G (p.Leu296Arg) c.*152T>G (n.*152T>G) c.575T>G c.773T>G (p.Leu258Arg) c.767T>G (p.Leu256Arg) c.593T>G (p.Leu198Arg) c.*10T>G (n.*10T>G) | |
| 6 | g.136898226T>A | CA452231819 | PEX7 | c.888T>A (p.Leu296=) c.*153T>A (n.*153T>A) c.576T>A c.774T>A (p.Leu258=) c.768T>A (p.Leu256=) c.594T>A (p.Leu198=) c.*11T>A (n.*11T>A) | |
| 6 | g.136898226T>C | CA452231820 | PEX7 | c.888T>C (p.Leu296=) c.*153T>C (n.*153T>C) c.576T>C c.774T>C (p.Leu258=) c.768T>C (p.Leu256=) c.594T>C (p.Leu198=) c.*11T>C (n.*11T>C) | gnomAD v4 |
| 6 | g.136898226T>G | CA452231821 | PEX7 | c.888T>G (p.Leu296=) c.*153T>G (n.*153T>G) c.576T>G c.774T>G (p.Leu258=) c.768T>G (p.Leu256=) c.594T>G (p.Leu198=) c.*11T>G (n.*11T>G) | |
| 6 | g.136898227del | CA2773216300 | PEX7 | c.889del (p.Gln297ArgfsTer15) c.*154del (n.*154del) c.577del c.775del (p.Gln259ArgfsTer15) c.769del (p.Gln257ArgfsTer15) c.595del (p.Gln199ArgfsTer15) c.*12del (n.*12del) | |
| 6 | g.136898227C>A | CA365766820 | PEX7 | c.889C>A (p.Gln297Lys) c.*154C>A (n.*154C>A) c.577C>A c.775C>A (p.Gln259Lys) c.769C>A (p.Gln257Lys) c.595C>A (p.Gln199Lys) c.*12C>A (n.*12C>A) | gnomAD v4 |
| 6 | g.136898227C>G | CA365766821 | PEX7 | c.889C>G (p.Gln297Glu) c.*154C>G (n.*154C>G) c.577C>G c.775C>G (p.Gln259Glu) c.769C>G (p.Gln257Glu) c.595C>G (p.Gln199Glu) c.*12C>G (n.*12C>G) | |
| 6 | g.136898227C>T | CA365766823 | PEX7 | c.889C>T (p.Gln297Ter) c.*154C>T (n.*154C>T) c.577C>T c.775C>T (p.Gln259Ter) c.769C>T (p.Gln257Ter) c.595C>T (p.Gln199Ter) c.*12C>T (n.*12C>T) | COSMIC |
| 6 | g.136898228A>C | CA365766827 | PEX7 | c.890A>C (p.Gln297Pro) c.*155A>C (n.*155A>C) c.578A>C c.776A>C (p.Gln259Pro) c.770A>C (p.Gln257Pro) c.596A>C (p.Gln199Pro) c.*13A>C (n.*13A>C) | |
| 6 | g.136898228A>G | CA365766826 | PEX7 | c.890A>G (p.Gln297Arg) c.*155A>G (n.*155A>G) c.578A>G c.776A>G (p.Gln259Arg) c.770A>G (p.Gln257Arg) c.596A>G (p.Gln199Arg) c.*13A>G (n.*13A>G) | gnomAD v4 |
| 6 | g.136898228A>T | CA365766824 | PEX7 | c.890A>T (p.Gln297Leu) c.*155A>T (n.*155A>T) c.578A>T c.776A>T (p.Gln259Leu) c.770A>T (p.Gln257Leu) c.596A>T (p.Gln199Leu) c.*13A>T (n.*13A>T) | |
| 6 | g.136898229G>A | CA452231822 | PEX7 | c.891G>A (p.Gln297=) c.*156G>A (n.*156G>A) c.579G>A c.777G>A (p.Gln259=) c.771G>A (p.Gln257=) c.597G>A (p.Gln199=) c.*14G>A (n.*14G>A) | |
| 6 | g.136898229G>C | CA365766829 | PEX7 | c.891G>C (p.Gln297His) c.*156G>C (n.*156G>C) c.579G>C c.777G>C (p.Gln259His) c.771G>C (p.Gln257His) c.597G>C (p.Gln199His) c.*14G>C (n.*14G>C) | |
| 6 | g.136898229G>T | CA365766830 | PEX7 | c.891G>T (p.Gln297His) c.*156G>T (n.*156G>T) c.579G>T c.777G>T (p.Gln259His) c.771G>T (p.Gln257His) c.597G>T (p.Gln199His) c.*14G>T (n.*14G>T) | |
| 6 | g.136898230A>C | CA365766832 | PEX7 | c.892A>C (p.Ser298Arg) c.*157A>C (n.*157A>C) c.580A>C c.778A>C (p.Ser260Arg) c.772A>C (p.Ser258Arg) c.598A>C (p.Ser200Arg) c.*15A>C (n.*15A>C) | |
| 6 | g.136898230A>G | CA365766835 | PEX7 | c.892A>G (p.Ser298Gly) c.*157A>G (n.*157A>G) c.580A>G c.778A>G (p.Ser260Gly) c.772A>G (p.Ser258Gly) c.598A>G (p.Ser200Gly) c.*15A>G (n.*15A>G) | |
| 6 | g.136898230A>T | CA365766834 | PEX7 | c.892A>T (p.Ser298Cys) c.*157A>T (n.*157A>T) c.580A>T c.778A>T (p.Ser260Cys) c.772A>T (p.Ser258Cys) c.598A>T (p.Ser200Cys) c.*15A>T (n.*15A>T) | |
| 6 | g.136898231G>A | CA365766837 | PEX7 | c.893G>A (p.Ser298Asn) c.*158G>A (n.*158G>A) c.581G>A c.779G>A (p.Ser260Asn) c.773G>A (p.Ser258Asn) c.599G>A (p.Ser200Asn) c.*16G>A (n.*16G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898231G>C | CA365766840 | PEX7 | c.893G>C (p.Ser298Thr) c.*158G>C (n.*158G>C) c.581G>C c.779G>C (p.Ser260Thr) c.773G>C (p.Ser258Thr) c.599G>C (p.Ser200Thr) c.*16G>C (n.*16G>C) | |
| 6 | g.136898231G>T | CA365766839 | PEX7 | c.893G>T (p.Ser298Ile) c.*158G>T (n.*158G>T) c.581G>T c.779G>T (p.Ser260Ile) c.773G>T (p.Ser258Ile) c.599G>T (p.Ser200Ile) c.*16G>T (n.*16G>T) | |
| 6 | g.136898232C>A | CA365766841 | PEX7 | c.894C>A (p.Ser298Arg) c.*159C>A (n.*159C>A) c.582C>A c.780C>A (p.Ser260Arg) c.774C>A (p.Ser258Arg) c.600C>A (p.Ser200Arg) c.*17C>A (n.*17C>A) | gnomAD v4 |
| 6 | g.136898232C>G | CA365766843 | PEX7 | c.894C>G (p.Ser298Arg) c.*159C>G (n.*159C>G) c.582C>G c.780C>G (p.Ser260Arg) c.774C>G (p.Ser258Arg) c.600C>G (p.Ser200Arg) c.*17C>G (n.*17C>G) | |
| 6 | g.136898232C>T | CA452231823 | PEX7 | c.894C>T (p.Ser298=) c.*159C>T (n.*159C>T) c.582C>T c.780C>T (p.Ser260=) c.774C>T (p.Ser258=) c.600C>T (p.Ser200=) c.*17C>T (n.*17C>T) | gnomAD v4 |
| 6 | g.136898235del | CA2578751940 | PEX7 | c.897del (p.Thr300LeufsTer12) c.*162del (n.*162del) c.585del c.783del (p.Thr262LeufsTer12) c.777del (p.Thr260LeufsTer12) c.603del (p.Thr202LeufsTer12) c.*20del (n.*20del) | gnomAD v4 |
| 6 | g.136898233C>A | CA365766845 | PEX7 | c.895C>A (p.Pro299Thr) c.*160C>A (n.*160C>A) c.583C>A c.781C>A (p.Pro261Thr) c.775C>A (p.Pro259Thr) c.601C>A (p.Pro201Thr) c.*18C>A (n.*18C>A) | gnomAD v4 |
| 6 | g.136898233C>G | CA4017782 | PEX7 | c.895C>G (p.Pro299Ala) c.*160C>G (n.*160C>G) c.583C>G c.781C>G (p.Pro261Ala) c.775C>G (p.Pro259Ala) c.601C>G (p.Pro201Ala) c.*18C>G (n.*18C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136898233C>T | CA365766847 | PEX7 | c.895C>T (p.Pro299Ser) c.*160C>T (n.*160C>T) c.583C>T c.781C>T (p.Pro261Ser) c.775C>T (p.Pro259Ser) c.601C>T (p.Pro201Ser) c.*18C>T (n.*18C>T) | gnomAD v4 |
| 6 | g.136898234C>A | CA365766849 | PEX7 | c.896C>A (p.Pro299His) c.*161C>A (n.*161C>A) c.584C>A c.782C>A (p.Pro261His) c.776C>A (p.Pro259His) c.602C>A (p.Pro201His) c.*19C>A (n.*19C>A) | gnomAD v4 |
| 6 | g.136898234C>G | CA365766851 | PEX7 | c.896C>G (p.Pro299Arg) c.*161C>G (n.*161C>G) c.584C>G c.782C>G (p.Pro261Arg) c.776C>G (p.Pro259Arg) c.602C>G (p.Pro201Arg) c.*19C>G (n.*19C>G) | |
| 6 | g.136898234C>T | CA365766852 | PEX7 | c.896C>T (p.Pro299Leu) c.*161C>T (n.*161C>T) c.584C>T c.782C>T (p.Pro261Leu) c.776C>T (p.Pro259Leu) c.602C>T (p.Pro201Leu) c.*19C>T (n.*19C>T) | gnomAD v4 |
| 6 | g.136898235C>A | CA452231824 | PEX7 | c.897C>A (p.Pro299=) c.*162C>A (n.*162C>A) c.585C>A c.783C>A (p.Pro261=) c.777C>A (p.Pro259=) c.603C>A (p.Pro201=) c.*20C>A (n.*20C>A) | gnomAD v4 |
| 6 | g.136898235C>G | CA452231825 | PEX7 | c.897C>G (p.Pro299=) c.*162C>G (n.*162C>G) c.585C>G c.783C>G (p.Pro261=) c.777C>G (p.Pro259=) c.603C>G (p.Pro201=) c.*20C>G (n.*20C>G) | |
| 6 | g.136898235C>T | CA4017783 | PEX7 | c.897C>T (p.Pro299=) c.*162C>T (n.*162C>T) c.585C>T c.783C>T (p.Pro261=) c.777C>T (p.Pro259=) c.603C>T (p.Pro201=) c.*20C>T (n.*20C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136898236A>C | CA365766855 | PEX7 | c.898A>C (p.Thr300Pro) c.*163A>C (n.*163A>C) c.586A>C c.784A>C (p.Thr262Pro) c.778A>C (p.Thr260Pro) c.604A>C (p.Thr202Pro) c.*21A>C (n.*21A>C) | |
| 6 | g.136898236A>G | CA365766857 | PEX7 | c.898A>G (p.Thr300Ala) c.*163A>G (n.*163A>G) c.586A>G c.784A>G (p.Thr262Ala) c.778A>G (p.Thr260Ala) c.604A>G (p.Thr202Ala) c.*21A>G (n.*21A>G) | gnomAD v4 |
| 6 | g.136898236A>T | CA365766858 | PEX7 | c.898A>T (p.Thr300Ser) c.*163A>T (n.*163A>T) c.586A>T c.784A>T (p.Thr262Ser) c.778A>T (p.Thr260Ser) c.604A>T (p.Thr202Ser) c.*21A>T (n.*21A>T) | |
| 6 | g.136898237_136898238insACCCAAACACACCCAAC | CA2773216301 | PEX7 | c.899_900insACCCAAACACACCCAAC (p.Gln301ProfsTer17) c.*164_*165insACCCAAACACACCCAAC (n.*164_*165insACCCAAACACACCCAAC) c.587_588insACCCAAACACACCCAAC c.785_786insACCCAAACACACCCAAC (p.Gln263ProfsTer17) c.779_780insACCCAAACACACCCAAC (p.Gln261ProfsTer17) c.605_606insACCCAAACACACCCAAC (p.Gln203ProfsTer17) c.*22_*23insACCCAAACACACCCAAC (n.*22_*23insACCCAAACACACCCAAC) | |
| 6 | g.136898237C>A | CA365766864 | PEX7 | c.899C>A (p.Thr300Asn) c.*164C>A (n.*164C>A) c.587C>A c.785C>A (p.Thr262Asn) c.779C>A (p.Thr260Asn) c.605C>A (p.Thr202Asn) c.*22C>A (n.*22C>A) | gnomAD v4 |
| 6 | g.136898237C>G | CA365766863 | PEX7 | c.899C>G (p.Thr300Ser) c.*164C>G (n.*164C>G) c.587C>G c.785C>G (p.Thr262Ser) c.779C>G (p.Thr260Ser) c.605C>G (p.Thr202Ser) c.*22C>G (n.*22C>G) | |
| 6 | g.136898237C>T | CA365766861 | PEX7 | c.899C>T (p.Thr300Ile) c.*164C>T (n.*164C>T) c.587C>T c.785C>T (p.Thr262Ile) c.779C>T (p.Thr260Ile) c.605C>T (p.Thr202Ile) c.*22C>T (n.*22C>T) | |
| 6 | g.136898238_136898239del | CA2578751941 | PEX7 | c.900_901del (p.Gln301GlyfsTer3) c.*165_*166del (n.*165_*166del) c.588_589del c.786_787del (p.Gln263GlyfsTer3) c.780_781del (p.Gln261GlyfsTer3) c.606_607del (p.Gln203GlyfsTer3) c.*23_*24del (n.*23_*24del) | |
| 6 | g.136898238T>A | CA4017784 | PEX7 | c.900T>A (p.Thr300=) c.*165T>A (n.*165T>A) c.588T>A c.786T>A (p.Thr262=) c.780T>A (p.Thr260=) c.606T>A (p.Thr202=) c.*23T>A (n.*23T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136898238T>C | CA452231826 | PEX7 | c.900T>C (p.Thr300=) c.*165T>C (n.*165T>C) c.588T>C c.786T>C (p.Thr262=) c.780T>C (p.Thr260=) c.606T>C (p.Thr202=) c.*23T>C (n.*23T>C) | gnomAD v4 |
| 6 | g.136898238T>G | CA452231827 | PEX7 | c.900T>G (p.Thr300=) c.*165T>G (n.*165T>G) c.588T>G c.786T>G (p.Thr262=) c.780T>G (p.Thr260=) c.606T>G (p.Thr202=) c.*23T>G (n.*23T>G) | |
| 6 | g.136898239C>A | CA365766867 | PEX7 | c.901C>A (p.Gln301Lys) c.*166C>A (n.*166C>A) c.589C>A c.787C>A (p.Gln263Lys) c.781C>A (p.Gln261Lys) c.607C>A (p.Gln203Lys) c.*24C>A (n.*24C>A) | gnomAD v4 |
| 6 | g.136898239C>G | CA365766868 | PEX7 | c.901C>G (p.Gln301Glu) c.*166C>G (n.*166C>G) c.589C>G c.787C>G (p.Gln263Glu) c.781C>G (p.Gln261Glu) c.607C>G (p.Gln203Glu) c.*24C>G (n.*24C>G) | |
| 6 | g.136898239C>T | CA148218765 | PEX7 | c.901C>T (p.Gln301Ter) c.*166C>T (n.*166C>T) c.589C>T c.787C>T (p.Gln263Ter) c.781C>T (p.Gln261Ter) c.607C>T (p.Gln203Ter) c.*24C>T (n.*24C>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136898240A>C | CA365766870 | PEX7 | c.902A>C (p.Gln301Pro) c.*167A>C (n.*167A>C) c.590A>C c.788A>C (p.Gln263Pro) c.782A>C (p.Gln261Pro) c.608A>C (p.Gln203Pro) c.*25A>C (n.*25A>C) | |
| 6 | g.136898240A>G | CA365766872 | PEX7 | c.902A>G (p.Gln301Arg) c.*167A>G (n.*167A>G) c.590A>G c.788A>G (p.Gln263Arg) c.782A>G (p.Gln261Arg) c.608A>G (p.Gln203Arg) c.*25A>G (n.*25A>G) | gnomAD v4 |
| 6 | g.136898240A>T | CA365766874 | PEX7 | c.902A>T (p.Gln301Leu) c.*167A>T (n.*167A>T) c.590A>T c.788A>T (p.Gln263Leu) c.782A>T (p.Gln261Leu) c.608A>T (p.Gln203Leu) c.*25A>T (n.*25A>T) | |
| 6 | g.136898241G>A | CA452231828 | PEX7 | c.903G>A (p.Gln301=) c.*168G>A (n.*168G>A) c.591G>A c.789G>A (p.Gln263=) c.783G>A (p.Gln261=) c.609G>A (p.Gln203=) c.*26G>A (n.*26G>A) | |
| 6 | g.136898241G>C | CA365766875 | PEX7 | c.903G>C (p.Gln301His) c.*168G>C (n.*168G>C) c.591G>C c.789G>C (p.Gln263His) c.783G>C (p.Gln261His) c.609G>C (p.Gln203His) c.*26G>C (n.*26G>C) | COSMIC |
| 6 | g.136898241G>T | CA365766877 | PEX7 | c.903G>T (p.Gln301His) c.*168G>T (n.*168G>T) c.591G>T c.789G>T (p.Gln263His) c.783G>T (p.Gln261His) c.609G>T (p.Gln203His) c.*26G>T (n.*26G>T) | |
| 6 | g.136898242G>A | CA365766879 | PEX7 | c.903+1G>A (n.903+1G>A) c.*168+1G>A (n.*168+1G>A) c.591+1G>A c.789+1G>A (n.789+1G>A) c.783+1G>A (n.783+1G>A) c.609+1G>A (n.609+1G>A) c.*26+1G>A (n.*26+1G>A) | gnomAD v4 |
| 6 | g.136898242G>C | CA340702 | PEX7 | c.903+1G>C (n.903+1G>C) c.*168+1G>C (n.*168+1G>C) c.591+1G>C c.789+1G>C (n.789+1G>C) c.783+1G>C (n.783+1G>C) c.609+1G>C (n.609+1G>C) c.*26+1G>C (n.*26+1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898242G>T | CA365766881 | PEX7 | c.903+1G>T (n.903+1G>T) c.*168+1G>T (n.*168+1G>T) c.591+1G>T c.789+1G>T (n.789+1G>T) c.783+1G>T (n.783+1G>T) c.609+1G>T (n.609+1G>T) c.*26+1G>T (n.*26+1G>T) | |
| 6 | g.136898243T>A | CA365766885 | PEX7 | c.903+2T>A (n.903+2T>A) c.*168+2T>A (n.*168+2T>A) c.591+2T>A c.789+2T>A (n.789+2T>A) c.783+2T>A (n.783+2T>A) c.609+2T>A (n.609+2T>A) c.*26+2T>A (n.*26+2T>A) | gnomAD v4 |
| 6 | g.136898243T>C | CA365766886 | PEX7 | c.903+2T>C (n.903+2T>C) c.*168+2T>C (n.*168+2T>C) c.591+2T>C c.789+2T>C (n.789+2T>C) c.783+2T>C (n.783+2T>C) c.609+2T>C (n.609+2T>C) c.*26+2T>C (n.*26+2T>C) | |
| 6 | g.136898243T>G | CA365766883 | PEX7 | c.903+2T>G (n.903+2T>G) c.*168+2T>G (n.*168+2T>G) c.591+2T>G c.789+2T>G (n.789+2T>G) c.783+2T>G (n.783+2T>G) c.609+2T>G (n.609+2T>G) c.*26+2T>G (n.*26+2T>G) | |
| 6 | g.136898244A>G | CA2680490267 | PEX7 | c.903+3A>G (n.903+3A>G) c.*168+3A>G (n.*168+3A>G) c.591+3A>G c.789+3A>G (n.789+3A>G) c.783+3A>G (n.783+3A>G) c.609+3A>G (n.609+3A>G) c.*26+3A>G (n.*26+3A>G) | gnomAD v4 |
| 6 | g.136898245A>G | CA570576433 | PEX7 | c.903+4A>G (n.903+4A>G) c.*168+4A>G (n.*168+4A>G) c.591+4A>G c.789+4A>G (n.789+4A>G) c.783+4A>G (n.783+4A>G) c.609+4A>G (n.609+4A>G) c.*26+4A>G (n.*26+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898246C>A | CA2680490269 | PEX7 | c.903+5C>A (n.903+5C>A) c.*168+5C>A (n.*168+5C>A) c.591+5C>A c.789+5C>A (n.789+5C>A) c.783+5C>A (n.783+5C>A) c.609+5C>A (n.609+5C>A) c.*26+5C>A (n.*26+5C>A) | gnomAD v4 |
| 6 | g.136898246C>T | CA4017786 | PEX7 | c.903+5C>T (n.903+5C>T) c.*168+5C>T (n.*168+5C>T) c.591+5C>T c.789+5C>T (n.789+5C>T) c.783+5C>T (n.783+5C>T) c.609+5C>T (n.609+5C>T) c.*26+5C>T (n.*26+5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898246dup | CA4017785 | PEX7 | c.903+5dup (n.903+5dup) c.*168+5dup (n.*168+5dup) c.591+5dup c.789+5dup (n.789+5dup) c.783+5dup (n.783+5dup) c.609+5dup (n.609+5dup) c.*26+5dup (n.*26+5dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898247G>A | CA4017787 | PEX7 | c.903+6G>A (n.903+6G>A) c.*168+6G>A (n.*168+6G>A) c.591+6G>A c.789+6G>A (n.789+6G>A) c.783+6G>A (n.783+6G>A) c.609+6G>A (n.609+6G>A) c.*26+6G>A (n.*26+6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898248G>A | CA2680490273 | PEX7 | c.903+7G>A (n.903+7G>A) c.*168+7G>A (n.*168+7G>A) c.591+7G>A c.789+7G>A (n.789+7G>A) c.783+7G>A (n.783+7G>A) c.609+7G>A (n.609+7G>A) c.*26+7G>A (n.*26+7G>A) | gnomAD v4 |
| 6 | g.136898248G>T | CA570576434 | PEX7 | c.903+7G>T (n.903+7G>T) c.*168+7G>T (n.*168+7G>T) c.591+7G>T c.789+7G>T (n.789+7G>T) c.783+7G>T (n.783+7G>T) c.609+7G>T (n.609+7G>T) c.*26+7G>T (n.*26+7G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898249A>G | CA4017789 | PEX7 | c.903+8A>G (n.903+8A>G) c.*168+8A>G (n.*168+8A>G) c.591+8A>G c.789+8A>G (n.789+8A>G) c.783+8A>G (n.783+8A>G) c.609+8A>G (n.609+8A>G) c.*26+8A>G (n.*26+8A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898249A>T | CA4017788 | PEX7 | c.903+8A>T (n.903+8A>T) c.*168+8A>T (n.*168+8A>T) c.591+8A>T c.789+8A>T (n.789+8A>T) c.783+8A>T (n.783+8A>T) c.609+8A>T (n.609+8A>T) c.*26+8A>T (n.*26+8A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898250T>A | CA148218815 | PEX7 | c.903+9T>A (n.903+9T>A) c.*168+9T>A (n.*168+9T>A) c.591+9T>A c.789+9T>A (n.789+9T>A) c.783+9T>A (n.783+9T>A) c.609+9T>A (n.609+9T>A) c.*26+9T>A (n.*26+9T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136898250T>C | CA2680490277 | PEX7 | c.903+9T>C (n.903+9T>C) c.*168+9T>C (n.*168+9T>C) c.591+9T>C c.789+9T>C (n.789+9T>C) c.783+9T>C (n.783+9T>C) c.609+9T>C (n.609+9T>C) c.*26+9T>C (n.*26+9T>C) | gnomAD v4 |
| 6 | g.136898251A>G | CA4017790 | PEX7 | c.903+10A>G (n.903+10A>G) c.*168+10A>G (n.*168+10A>G) c.591+10A>G c.789+10A>G (n.789+10A>G) c.783+10A>G (n.783+10A>G) c.609+10A>G (n.609+10A>G) c.*26+10A>G (n.*26+10A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898251A>T | CA2573140590 | PEX7 | c.903+10A>T (n.903+10A>T) c.*168+10A>T (n.*168+10A>T) c.591+10A>T c.789+10A>T (n.789+10A>T) c.783+10A>T (n.783+10A>T) c.609+10A>T (n.609+10A>T) c.*26+10A>T (n.*26+10A>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136898252C>A | CA2680490279 | PEX7 | c.903+11C>A (n.903+11C>A) c.*168+11C>A (n.*168+11C>A) c.591+11C>A c.789+11C>A (n.789+11C>A) c.783+11C>A (n.783+11C>A) c.609+11C>A (n.609+11C>A) c.*26+11C>A (n.*26+11C>A) | gnomAD v4 |
| 6 | g.136898252C>T | CA2680490280 | PEX7 | c.903+11C>T (n.903+11C>T) c.*168+11C>T (n.*168+11C>T) c.591+11C>T c.789+11C>T (n.789+11C>T) c.783+11C>T (n.783+11C>T) c.609+11C>T (n.609+11C>T) c.*26+11C>T (n.*26+11C>T) | gnomAD v4 |
| 6 | g.136898253A>C | CA2680490281 | PEX7 | c.903+12A>C (n.903+12A>C) c.*168+12A>C (n.*168+12A>C) c.591+12A>C c.789+12A>C (n.789+12A>C) c.783+12A>C (n.783+12A>C) c.609+12A>C (n.609+12A>C) c.*26+12A>C (n.*26+12A>C) | gnomAD v4 |
| 6 | g.136898253A>G | CA2680490282 | PEX7 | c.903+12A>G (n.903+12A>G) c.*168+12A>G (n.*168+12A>G) c.591+12A>G c.789+12A>G (n.789+12A>G) c.783+12A>G (n.783+12A>G) c.609+12A>G (n.609+12A>G) c.*26+12A>G (n.*26+12A>G) | ClinVar gnomAD v4 |