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.136898150A>C | CA365766543 | PEX7 | c.812A>C (p.Asn271Thr) c.*77A>C (n.*77A>C) c.500A>C c.698A>C (p.Asn233Thr) c.692A>C (p.Asn231Thr) c.518A>C (p.Asn173Thr) c.535A>C (p.Thr179Pro) | |
| 6 | g.136898150A>G | CA365766542 | PEX7 | c.812A>G (p.Asn271Ser) c.*77A>G (n.*77A>G) c.500A>G c.698A>G (p.Asn233Ser) c.692A>G (p.Asn231Ser) c.518A>G (p.Asn173Ser) c.535A>G (p.Thr179Ala) | |
| 6 | g.136898150A>T | CA365766544 | PEX7 | c.812A>T (p.Asn271Ile) c.*77A>T (n.*77A>T) c.500A>T c.698A>T (p.Asn233Ile) c.692A>T (p.Asn231Ile) c.518A>T (p.Asn173Ile) c.535A>T (p.Thr179Ser) | |
| 6 | g.136898151C>A | CA365766545 | PEX7 | c.813C>A (p.Asn271Lys) c.*78C>A (n.*78C>A) c.501C>A c.699C>A (p.Asn233Lys) c.693C>A (p.Asn231Lys) c.519C>A (p.Asn173Lys) c.536C>A (p.Thr179Asn) | gnomAD v4 |
| 6 | g.136898151C>G | CA365766546 | PEX7 | c.813C>G (p.Asn271Lys) c.*78C>G (n.*78C>G) c.501C>G c.699C>G (p.Asn233Lys) c.693C>G (p.Asn231Lys) c.519C>G (p.Asn173Lys) c.536C>G (p.Thr179Ser) | |
| 6 | g.136898151C>T | CA452231775 | PEX7 | c.813C>T (p.Asn271=) c.*78C>T (n.*78C>T) c.501C>T c.699C>T (p.Asn233=) c.693C>T (p.Asn231=) c.519C>T (p.Asn173=) c.536C>T (p.Thr179Ile) | ClinVar dbSNP |
| 6 | g.136898151_136898152del | CA913109573 | PEX7 | c.813_814del (p.Ser273LysfsTer3) c.*78_*79del (n.*78_*79del) c.501_502del c.699_700del (p.Ser235LysfsTer3) c.693_694del (p.Ser233LysfsTer3) c.519_520del (p.Ser175LysfsTer3) c.536_537del (p.Thr179IlefsTer?) | |
| 6 | g.136898152T>A | CA365766547 | PEX7 | c.814T>A (p.Phe272Ile) c.*79T>A (n.*79T>A) c.502T>A c.700T>A (p.Phe234Ile) c.694T>A (p.Phe232Ile) c.520T>A (p.Phe174Ile) c.537T>A (p.Thr179=) | |
| 6 | g.136898152T>C | CA365766548 | PEX7 | c.814T>C (p.Phe272Leu) c.*79T>C (n.*79T>C) c.502T>C c.700T>C (p.Phe234Leu) c.694T>C (p.Phe232Leu) c.520T>C (p.Phe174Leu) c.537T>C (p.Thr179=) | |
| 6 | g.136898152T>G | CA365766549 | PEX7 | c.814T>G (p.Phe272Val) c.*79T>G (n.*79T>G) c.502T>G c.700T>G (p.Phe234Val) c.694T>G (p.Phe232Val) c.520T>G (p.Phe174Val) c.537T>G (p.Thr179=) | |
| 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) |