| 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.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?) | 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?) |