Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.136826247_136826249del | CA2578751730 | PEX7 | c.189-72_189-70del (n.189-72_189-70del) c.59-67_59-65del c.75-72_75-70del (n.75-72_75-70del) c.189-67_189-65del (n.189-67_189-65del) c.69-72_69-70del (n.69-72_69-70del) | gnomAD v4 |
6 | g.136826247G>A | CA2680489114 | PEX7 | c.189-72G>A (n.189-72G>A) c.59-67G>A c.75-72G>A (n.75-72G>A) c.189-67G>A (n.189-67G>A) c.69-72G>A (n.69-72G>A) | gnomAD v4 |
6 | g.136826247G>T | CA819502881 | PEX7 | c.189-72G>T (n.189-72G>T) c.59-67G>T c.75-72G>T (n.75-72G>T) c.189-67G>T (n.189-67G>T) c.69-72G>T (n.69-72G>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.136826248T>C | CA2680489116 | PEX7 | c.189-71T>C (n.189-71T>C) c.59-66T>C c.75-71T>C (n.75-71T>C) c.189-66T>C (n.189-66T>C) c.69-71T>C (n.69-71T>C) | gnomAD v4 |
6 | g.136826249dup | CA2680489115 | PEX7 | c.189-70dup (n.189-70dup) c.59-65dup c.75-70dup (n.75-70dup) c.189-65dup (n.189-65dup) c.69-70dup (n.69-70dup) | gnomAD v4 |
6 | g.136826250del | CA819502885 | PEX7 | c.189-69del (n.189-69del) c.59-64del c.75-69del (n.75-69del) c.189-64del (n.189-64del) c.69-69del (n.69-69del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.136826250A>T | CA148641162 | PEX7 | c.189-69A>T (n.189-69A>T) c.59-64A>T c.75-69A>T (n.75-69A>T) c.189-64A>T (n.189-64A>T) c.69-69A>T (n.69-69A>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.136826251T>A | CA2680489118 | PEX7 | c.189-68T>A (n.189-68T>A) c.59-63T>A c.75-68T>A (n.75-68T>A) c.189-63T>A (n.189-63T>A) c.69-68T>A (n.69-68T>A) | gnomAD v4 |
6 | g.136826251T>C | CA2680489117 | PEX7 | c.189-68T>C (n.189-68T>C) c.59-63T>C c.75-68T>C (n.75-68T>C) c.189-63T>C (n.189-63T>C) c.69-68T>C (n.69-68T>C) | gnomAD v4 |
6 | g.136826258dup | CA570744330 | PEX7 | c.189-61dup (n.189-61dup) c.59-56dup c.75-61dup (n.75-61dup) c.189-56dup (n.189-56dup) c.69-61dup (n.69-61dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826258del | CA148641163 | PEX7 | c.189-61del (n.189-61del) c.59-56del c.75-61del (n.75-61del) c.189-56del (n.189-56del) c.69-61del (n.69-61del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.136826252T>G | CA819502890 | PEX7 | c.189-67T>G (n.189-67T>G) c.59-62T>G c.75-67T>G (n.75-67T>G) c.189-62T>G (n.189-62T>G) c.69-67T>G (n.69-67T>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.136826255T>C | CA2680489119 | PEX7 | c.189-64T>C (n.189-64T>C) c.59-59T>C c.75-64T>C (n.75-64T>C) c.189-59T>C (n.189-59T>C) c.69-64T>C (n.69-64T>C) | gnomAD v4 |
6 | g.136826257T>A | CA2680489120 | PEX7 | c.189-62T>A (n.189-62T>A) c.59-57T>A c.75-62T>A (n.75-62T>A) c.189-57T>A (n.189-57T>A) c.69-62T>A (n.69-62T>A) | gnomAD v4 |
6 | g.136826261_136826263del | CA148641164 | PEX7 | c.189-58_189-56del (n.189-58_189-56del) c.59-53_59-51del c.75-58_75-56del (n.75-58_75-56del) c.189-53_189-51del (n.189-53_189-51del) c.69-58_69-56del (n.69-58_69-56del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826258T>G | CA2680489121 | PEX7 | c.189-61T>G (n.189-61T>G) c.59-56T>G c.75-61T>G (n.75-61T>G) c.189-56T>G (n.189-56T>G) c.69-61T>G (n.69-61T>G) | gnomAD v4 |
6 | g.136826259del | CA819502894 | PEX7 | c.189-60del (n.189-60del) c.59-55del c.75-60del (n.75-60del) c.189-55del (n.189-55del) c.69-60del (n.69-60del) | dbSNP |
6 | g.136826259G>T | CA2680489122 | PEX7 | c.189-60G>T (n.189-60G>T) c.59-55G>T c.75-60G>T (n.75-60G>T) c.189-55G>T (n.189-55G>T) c.69-60G>T (n.69-60G>T) | gnomAD v4 |
6 | g.136826260T>C | CA2578751732 | PEX7 | c.189-59T>C (n.189-59T>C) c.59-54T>C c.75-59T>C (n.75-59T>C) c.189-54T>C (n.189-54T>C) c.69-59T>C (n.69-59T>C) | |
6 | g.136826262G>A | CA2680489123 | PEX7 | c.189-57G>A (n.189-57G>A) c.59-52G>A c.75-57G>A (n.75-57G>A) c.189-52G>A (n.189-52G>A) c.69-57G>A (n.69-57G>A) | gnomAD v4 |
6 | g.136826262G>T | CA2680489124 | PEX7 | c.189-57G>T (n.189-57G>T) c.59-52G>T c.75-57G>T (n.75-57G>T) c.189-52G>T (n.189-52G>T) c.69-57G>T (n.69-57G>T) | dbSNP gnomAD v4 |
6 | g.136826263T>A | CA2680489125 | PEX7 | c.189-56T>A (n.189-56T>A) c.59-51T>A c.75-56T>A (n.75-56T>A) c.189-51T>A (n.189-51T>A) c.69-56T>A (n.69-56T>A) | gnomAD v4 |
6 | g.136826264G>A | CA2680489126 | PEX7 | c.189-55G>A (n.189-55G>A) c.59-50G>A c.75-55G>A (n.75-55G>A) c.189-50G>A (n.189-50G>A) c.69-55G>A (n.69-55G>A) | gnomAD v4 |
6 | g.136826264G>T | CA2680489127 | PEX7 | c.189-55G>T (n.189-55G>T) c.59-50G>T c.75-55G>T (n.75-55G>T) c.189-50G>T (n.189-50G>T) c.69-55G>T (n.69-55G>T) | gnomAD v4 |
6 | g.136826265T>C | CA2680489128 | PEX7 | c.189-54T>C (n.189-54T>C) c.59-49T>C c.75-54T>C (n.75-54T>C) c.189-49T>C (n.189-49T>C) c.69-54T>C (n.69-54T>C) | gnomAD v4 |
6 | g.136826266A>G | CA148641165 | PEX7 | c.189-53A>G (n.189-53A>G) c.59-48A>G c.75-53A>G (n.75-53A>G) c.189-48A>G (n.189-48A>G) c.69-53A>G (n.69-53A>G) | dbSNP gnomAD v4 |
6 | g.136826268C>A | CA148641166 | PEX7 | c.189-51C>A (n.189-51C>A) c.59-46C>A c.75-51C>A (n.75-51C>A) c.189-46C>A (n.189-46C>A) c.69-51C>A (n.69-51C>A) | dbSNP gnomAD v4 |
6 | g.136826268C>T | CA2680489129 | PEX7 | c.189-51C>T (n.189-51C>T) c.59-46C>T c.75-51C>T (n.75-51C>T) c.189-46C>T (n.189-46C>T) c.69-51C>T (n.69-51C>T) | gnomAD v4 |
6 | g.136826269T>G | CA2680489130 | PEX7 | c.189-50T>G (n.189-50T>G) c.59-45T>G c.75-50T>G (n.75-50T>G) c.189-45T>G (n.189-45T>G) c.69-50T>G (n.69-50T>G) | gnomAD v4 |
6 | g.136826270G>C | CA570744333 | PEX7 | c.189-49G>C (n.189-49G>C) c.59-44G>C c.75-49G>C (n.75-49G>C) c.189-44G>C (n.189-44G>C) c.69-49G>C (n.69-49G>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826271C>A | CA4017519 | PEX7 | c.189-48C>A (n.189-48C>A) c.59-43C>A c.75-48C>A (n.75-48C>A) c.189-43C>A (n.189-43C>A) c.69-48C>A (n.69-48C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826272C>A | CA2680489131 | PEX7 | c.189-47C>A (n.189-47C>A) c.59-42C>A c.75-47C>A (n.75-47C>A) c.189-42C>A (n.189-42C>A) c.69-47C>A (n.69-47C>A) | gnomAD v4 |
6 | g.136826272C>T | CA570744336 | PEX7 | c.189-47C>T (n.189-47C>T) c.59-42C>T c.75-47C>T (n.75-47C>T) c.189-42C>T (n.189-42C>T) c.69-47C>T (n.69-47C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826274A>C | CA2680489132 | PEX7 | c.189-45A>C (n.189-45A>C) c.59-40A>C c.75-45A>C (n.75-45A>C) c.189-40A>C (n.189-40A>C) c.69-45A>C (n.69-45A>C) | gnomAD v4 |
6 | g.136826274A>G | CA570744337 | PEX7 | c.189-45A>G (n.189-45A>G) c.59-40A>G c.75-45A>G (n.75-45A>G) c.189-40A>G (n.189-40A>G) c.69-45A>G (n.69-45A>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826276G>A | CA2680489133 | PEX7 | c.189-43G>A (n.189-43G>A) c.59-38G>A c.75-43G>A (n.75-43G>A) c.189-38G>A (n.189-38G>A) c.69-43G>A (n.69-43G>A) | gnomAD v4 |
6 | g.136826276G>T | CA2773213156 | PEX7 | c.189-43G>T (n.189-43G>T) c.59-38G>T c.75-43G>T (n.75-43G>T) c.189-38G>T (n.189-38G>T) c.69-43G>T (n.69-43G>T) | |
6 | g.136826277T>C | CA148641167 | PEX7 | c.189-42T>C (n.189-42T>C) c.59-37T>C c.75-42T>C (n.75-42T>C) c.189-37T>C (n.189-37T>C) c.69-42T>C (n.69-42T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826277T>G | CA570744340 | PEX7 | c.189-42T>G (n.189-42T>G) c.59-37T>G c.75-42T>G (n.75-42T>G) c.189-37T>G (n.189-37T>G) c.69-42T>G (n.69-42T>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826279del | CA2713378691 | PEX7 | c.189-40del (n.189-40del) c.59-35del c.75-40del (n.75-40del) c.189-35del (n.189-35del) c.69-40del (n.69-40del) | dbSNP |
6 | g.136826280G>A | CA4017520 | PEX7 | c.189-39G>A (n.189-39G>A) c.59-34G>A c.75-39G>A (n.75-39G>A) c.189-34G>A (n.189-34G>A) c.69-39G>A (n.69-39G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.136826283T>C | CA2680489134 | PEX7 | c.189-36T>C (n.189-36T>C) c.59-31T>C c.75-36T>C (n.75-36T>C) c.189-31T>C (n.189-31T>C) c.69-36T>C (n.69-36T>C) | gnomAD v4 |
6 | g.136826285G>T | CA2680489135 | PEX7 | c.189-34G>T (n.189-34G>T) c.59-29G>T c.75-34G>T (n.75-34G>T) c.189-29G>T (n.189-29G>T) c.69-34G>T (n.69-34G>T) | dbSNP gnomAD v4 |
6 | g.136826288T>C | CA2578751733 | PEX7 | c.189-31T>C (n.189-31T>C) c.59-26T>C c.75-31T>C (n.75-31T>C) c.189-26T>C (n.189-26T>C) c.69-31T>C (n.69-31T>C) | dbSNP gnomAD v4 |
6 | g.136826294dup | CA4017521 | PEX7 | c.189-25dup (n.189-25dup) c.59-20dup c.75-25dup (n.75-25dup) c.189-20dup (n.189-20dup) c.69-25dup (n.69-25dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826294del | CA2680489136 | PEX7 | c.189-25del (n.189-25del) c.59-20del c.75-25del (n.75-25del) c.189-20del (n.189-20del) c.69-25del (n.69-25del) | gnomAD v4 |
6 | g.136826289T>A | CA2680489137 | PEX7 | c.189-30T>A (n.189-30T>A) c.59-25T>A c.75-30T>A (n.75-30T>A) c.189-25T>A (n.189-25T>A) c.69-30T>A (n.69-30T>A) | gnomAD v4 |
6 | g.136826292T>A | CA4017522 | PEX7 | c.189-27T>A (n.189-27T>A) c.59-22T>A c.75-27T>A (n.75-27T>A) c.189-22T>A (n.189-22T>A) c.69-27T>A (n.69-27T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826292T>G | CA570744345 | PEX7 | c.189-27T>G (n.189-27T>G) c.59-22T>G c.75-27T>G (n.75-27T>G) c.189-22T>G (n.189-22T>G) c.69-27T>G (n.69-27T>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826298_136826300del | CA570744346 | PEX7 | c.189-21_189-19del (n.189-21_189-19del) c.59-16_59-14del c.75-21_75-19del (n.75-21_75-19del) c.189-16_189-14del (n.189-16_189-14del) c.69-21_69-19del (n.69-21_69-19del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826295del | CA4017523 | PEX7 | c.189-24del (n.189-24del) c.59-19del c.75-24del (n.75-24del) c.189-19del (n.189-19del) c.69-24del (n.69-24del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826295G>T | CA2578751734 | PEX7 | c.189-24G>T (n.189-24G>T) c.59-19G>T c.75-24G>T (n.75-24G>T) c.189-19G>T (n.189-19G>T) c.69-24G>T (n.69-24G>T) | dbSNP gnomAD v4 |
6 | g.136826296T>G | CA2773213158 | PEX7 | c.189-23T>G (n.189-23T>G) c.59-18T>G c.75-23T>G (n.75-23T>G) c.189-18T>G (n.189-18T>G) c.69-23T>G (n.69-23T>G) | |
6 | g.136826297del | CA365855701 | PEX7 | c.189-22del (n.189-22del) c.59-17del c.75-22del (n.75-22del) c.189-17del (n.189-17del) c.69-22del (n.69-22del) | |
6 | g.136826298_136826299del | CA819502939 | PEX7 | c.189-21_189-20del (n.189-21_189-20del) c.59-16_59-15del c.75-21_75-20del (n.75-21_75-20del) c.189-16_189-15del (n.189-16_189-15del) c.69-21_69-20del (n.69-21_69-20del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.136826298G>T | CA2680489138 | PEX7 | c.189-21G>T (n.189-21G>T) c.59-16G>T c.75-21G>T (n.75-21G>T) c.189-16G>T (n.189-16G>T) c.69-21G>T (n.69-21G>T) | gnomAD v4 |
6 | g.136826298dup | CA2497183945 | PEX7 | c.189-21dup (n.189-21dup) c.59-16dup c.75-21dup (n.75-21dup) c.189-16dup (n.189-16dup) c.69-21dup (n.69-21dup) | dbSNP |
6 | g.136826299T>C | CA2740091500 | PEX7 | c.189-20T>C (n.189-20T>C) c.59-15T>C c.75-20T>C (n.75-20T>C) c.189-15T>C (n.189-15T>C) c.69-20T>C (n.69-20T>C) | ClinVar |
6 | g.136826302del | CA2497183946 | PEX7 | c.189-17del (n.189-17del) c.59-12del c.75-17del (n.75-17del) c.189-12del (n.189-12del) c.69-17del (n.69-17del) | dbSNP |
6 | g.136826302G>A | CA4017524 | PEX7 | c.189-17G>A (n.189-17G>A) c.59-12G>A c.75-17G>A (n.75-17G>A) c.189-12G>A (n.189-12G>A) c.69-17G>A (n.69-17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826302G>T | CA2680489139 | PEX7 | c.189-17G>T (n.189-17G>T) c.59-12G>T c.75-17G>T (n.75-17G>T) c.189-12G>T (n.189-12G>T) c.69-17G>T (n.69-17G>T) | gnomAD v4 |
6 | g.136826302_136826303insC | CA2518305562 | PEX7 | c.189-17_189-16insC (n.189-17_189-16insC) c.59-12_59-11insC c.75-17_75-16insC (n.75-17_75-16insC) c.189-12_189-11insC (n.189-12_189-11insC) c.69-17_69-16insC (n.69-17_69-16insC) | |
6 | g.136826303T>A | CA2680489141 | PEX7 | c.189-16T>A (n.189-16T>A) c.59-11T>A c.75-16T>A (n.75-16T>A) c.189-11T>A (n.189-11T>A) c.69-16T>A (n.69-16T>A) | ClinVar gnomAD v4 |
6 | g.136826308dup | CA2680489140 | PEX7 | c.189-11dup (n.189-11dup) c.59-6dup c.75-11dup (n.75-11dup) c.189-6dup (n.189-6dup) c.69-11dup (n.69-11dup) | gnomAD v4 |
6 | g.136826308del | CA2578751735 | PEX7 | c.189-11del (n.189-11del) c.59-6del c.75-11del (n.75-11del) c.189-6del (n.189-6del) c.69-11del (n.69-11del) | |
6 | g.136826307T>C | CA2680489142 | PEX7 | c.189-12T>C (n.189-12T>C) c.59-7T>C c.75-12T>C (n.75-12T>C) c.189-7T>C (n.189-7T>C) c.69-12T>C (n.69-12T>C) | gnomAD v4 |
6 | g.136826309C>A | CA2561301572 | PEX7 | c.189-10C>A (n.189-10C>A) c.59-5C>A c.75-10C>A (n.75-10C>A) c.189-5C>A (n.189-5C>A) c.69-10C>A (n.69-10C>A) | |
6 | g.136826309C>T | CA2739266174 | PEX7 | c.189-10C>T (n.189-10C>T) c.59-5C>T c.75-10C>T (n.75-10C>T) c.189-5C>T (n.189-5C>T) c.69-10C>T (n.69-10C>T) | ClinVar |
6 | g.136826310C>T | CA570744349 | PEX7 | c.189-9C>T (n.189-9C>T) c.59-4C>T c.75-9C>T (n.75-9C>T) c.189-4C>T (n.189-4C>T) c.69-9C>T (n.69-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826311T>A | CA2573140627 | PEX7 | c.189-8T>A (n.189-8T>A) c.59-3T>A c.75-8T>A (n.75-8T>A) c.189-3T>A (n.189-3T>A) c.69-8T>A (n.69-8T>A) | ClinVar dbSNP |
6 | g.136826312A>G | CA452375568 | PEX7 | c.189-7A>G (n.189-7A>G) c.59-2A>G c.75-7A>G (n.75-7A>G) c.189-2A>G (n.189-2A>G) c.69-7A>G (n.69-7A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.136826313G>A | CA2680489146 | PEX7 | c.189-6G>A (n.189-6G>A) c.59-1G>A c.75-6G>A (n.75-6G>A) c.189-1G>A (n.189-1G>A) c.69-6G>A (n.69-6G>A) | gnomAD v4 |
6 | g.136826314T>C | CA2680489147 | PEX7 | c.189-5T>C (n.189-5T>C) c.59T>C c.75-5T>C (n.75-5T>C) c.189T>C (p.Ser63=) c.69-5T>C (n.69-5T>C) | gnomAD v4 |
6 | g.136826314T>G | CA4017525 | PEX7 | c.189-5T>G (n.189-5T>G) c.59T>G c.75-5T>G (n.75-5T>G) c.189T>G (p.Ser63Arg) c.69-5T>G (n.69-5T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.136826315G>A | CA2580075088 | PEX7 | c.189-4G>A (n.189-4G>A) c.60G>A c.75-4G>A (n.75-4G>A) c.190G>A (p.Val64Ile) c.69-4G>A (n.69-4G>A) | ClinVar dbSNP gnomAD v4 |
6 | g.136826317A>C | CA365855704 | PEX7 | c.189-2A>C (n.189-2A>C) c.62A>C c.75-2A>C (n.75-2A>C) c.192A>C (p.Val64=) c.69-2A>C (n.69-2A>C) | |
6 | g.136826317A>G | CA365855702 | PEX7 | c.189-2A>G (n.189-2A>G) c.62A>G c.75-2A>G (n.75-2A>G) c.192A>G (p.Val64=) c.69-2A>G (n.69-2A>G) | ClinVar dbSNP gnomAD v4 |
6 | g.136826317A>T | CA365855703 | PEX7 | c.189-2A>T (n.189-2A>T) c.62A>T c.75-2A>T (n.75-2A>T) c.192A>T (p.Val64=) c.69-2A>T (n.69-2A>T) | |
6 | g.136826318G>A | CA365855705 | PEX7 | c.189-1G>A (n.189-1G>A) c.63G>A c.75-1G>A (n.75-1G>A) c.193G>A (p.Ala65Thr) c.69-1G>A (n.69-1G>A) | |
6 | g.136826318G>C | CA365855706 | PEX7 | c.189-1G>C (n.189-1G>C) c.63G>C c.75-1G>C (n.75-1G>C) c.193G>C (p.Ala65Pro) c.69-1G>C (n.69-1G>C) | |
6 | g.136826318G>T | CA365855707 | PEX7 | c.189-1G>T (n.189-1G>T) c.63G>T c.75-1G>T (n.75-1G>T) c.193G>T (p.Ala65Ser) c.69-1G>T (n.69-1G>T) | |
6 | g.136826319C>A | CA365855708 | PEX7 | c.189C>A (p.Ser63Arg) c.64C>A c.75C>A (p.Ser25Arg) c.194C>A (p.Ala65Asp) c.69C>A (p.Ser23Arg) | gnomAD v4 |
6 | g.136826319C>G | CA365855709 | PEX7 | c.189C>G (p.Ser63Arg) c.64C>G c.75C>G (p.Ser25Arg) c.194C>G (p.Ala65Gly) c.69C>G (p.Ser23Arg) | |
6 | g.136826319C>T | CA452376232 | PEX7 | c.189C>T (p.Ser63=) c.64C>T c.75C>T (p.Ser25=) c.194C>T (p.Ala65Val) c.69C>T (p.Ser23=) | |
6 | g.136826320T>A | CA365855710 | PEX7 | c.190T>A (p.Phe64Ile) c.65T>A c.76T>A (p.Phe26Ile) c.195T>A (p.Ala65=) c.70T>A (p.Phe24Ile) | |
6 | g.136826320T>C | CA365855711 | PEX7 | c.190T>C (p.Phe64Leu) c.65T>C c.76T>C (p.Phe26Leu) c.195T>C (p.Ala65=) c.70T>C (p.Phe24Leu) | |
6 | g.136826320T>G | CA365855712 | PEX7 | c.190T>G (p.Phe64Val) c.65T>G c.76T>G (p.Phe26Val) c.195T>G (p.Ala65=) c.70T>G (p.Phe24Val) | |
6 | g.136826322del | CA915940607 | PEX7 | c.192del (p.Phe64LeufsTer10) c.67del c.78del (p.Phe26LeufsTer10) c.197del (p.Leu66Ter) c.72del (p.Phe24LeufsTer10) | |
6 | g.136826321T>A | CA365855713 | PEX7 | c.191T>A (p.Phe64Tyr) c.66T>A c.77T>A (p.Phe26Tyr) c.196T>A (p.Leu66Met) c.71T>A (p.Phe24Tyr) | |
6 | g.136826321T>C | CA365855714 | PEX7 | c.191T>C (p.Phe64Ser) c.66T>C c.77T>C (p.Phe26Ser) c.196T>C (p.Leu66=) c.71T>C (p.Phe24Ser) | |
6 | g.136826321T>G | CA365855715 | PEX7 | c.191T>G (p.Phe64Cys) c.66T>G c.77T>G (p.Phe26Cys) c.196T>G (p.Leu66Val) c.71T>G (p.Phe24Cys) | |
6 | g.136826322T>A | CA365855716 | PEX7 | c.192T>A (p.Phe64Leu) c.67T>A c.78T>A (p.Phe26Leu) c.197T>A (p.Leu66Ter) c.72T>A (p.Phe24Leu) | |
6 | g.136826322T>C | CA452376248 | PEX7 | c.192T>C (p.Phe64=) c.67T>C c.78T>C (p.Phe26=) c.197T>C (p.Leu66Ser) c.72T>C (p.Phe24=) | |
6 | g.136826322T>G | CA365855717 | PEX7 | c.192T>G (p.Phe64Leu) c.67T>G c.78T>G (p.Phe26Leu) c.197T>G (p.Leu66Trp) c.72T>G (p.Phe24Leu) | |
6 | g.136826323G>A | CA365855718 | PEX7 | c.193G>A (p.Asp65Asn) c.68G>A c.79G>A (p.Asp27Asn) c.198G>A (p.Leu66=) c.73G>A (p.Asp25Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826323G>C | CA365855719 | PEX7 | c.193G>C (p.Asp65His) c.68G>C c.79G>C (p.Asp27His) c.198G>C (p.Leu66Phe) c.73G>C (p.Asp25His) | |
6 | g.136826323G>T | CA365855720 | PEX7 | c.193G>T (p.Asp65Tyr) c.68G>T c.79G>T (p.Asp27Tyr) c.198G>T (p.Leu66Phe) c.73G>T (p.Asp25Tyr) | dbSNP gnomAD v4 |
6 | g.136826324A>C | CA365855721 | PEX7 | c.194A>C (p.Asp65Ala) c.69A>C c.80A>C (p.Asp27Ala) c.199A>C (p.Thr67Pro) c.74A>C (p.Asp25Ala) | |
6 | g.136826324A>G | CA365855722 | PEX7 | c.194A>G (p.Asp65Gly) c.69A>G c.80A>G (p.Asp27Gly) c.199A>G (p.Thr67Ala) c.74A>G (p.Asp25Gly) | |
6 | g.136826324A>T | CA365855723 | PEX7 | c.194A>T (p.Asp65Val) c.69A>T c.80A>T (p.Asp27Val) c.199A>T (p.Thr67Ser) c.74A>T (p.Asp25Val) | |
6 | g.136826325C>A | CA365855724 | PEX7 | c.195C>A (p.Asp65Glu) c.70C>A c.81C>A (p.Asp27Glu) c.200C>A (p.Thr67Asn) c.75C>A (p.Asp25Glu) | |
6 | g.136826325C>G | CA365855725 | PEX7 | c.195C>G (p.Asp65Glu) c.70C>G c.81C>G (p.Asp27Glu) c.200C>G (p.Thr67Ser) c.75C>G (p.Asp25Glu) | ClinVar dbSNP gnomAD v4 |
6 | g.136826325C>T | CA452376279 | PEX7 | c.195C>T (p.Asp65=) c.70C>T c.81C>T (p.Asp27=) c.200C>T (p.Thr67Ile) c.75C>T (p.Asp25=) | |
6 | g.136826325_136826326del | CA2695207124 | PEX7 | c.195_196del (p.Asp65GlufsTer3) c.70_71del c.81_82del (p.Asp27GlufsTer3) c.200_201del (p.Thr67ArgfsTer?) c.75_76del (p.Asp25GlufsTer3) | |
6 | g.136826326T>A | CA365855726 | PEX7 | c.196T>A (p.Trp66Arg) c.71T>A c.82T>A (p.Trp28Arg) c.201T>A (p.Thr67=) c.76T>A (p.Trp26Arg) | |
6 | g.136826326T>C | CA365855727 | PEX7 | c.196T>C (p.Trp66Arg) c.71T>C c.82T>C (p.Trp28Arg) c.201T>C (p.Thr67=) c.76T>C (p.Trp26Arg) | |
6 | g.136826326T>G | CA365855728 | PEX7 | c.196T>G (p.Trp66Gly) c.71T>G c.82T>G (p.Trp28Gly) c.201T>G (p.Thr67=) c.76T>G (p.Trp26Gly) | |
6 | g.136826327G>A | CA365855731 | PEX7 | c.197G>A (p.Trp66Ter) c.72G>A c.83G>A (p.Trp28Ter) c.202G>A (p.Gly68Arg) c.77G>A (p.Trp26Ter) | |
6 | g.136826327G>C | CA365855730 | PEX7 | c.197G>C (p.Trp66Ser) c.72G>C c.83G>C (p.Trp28Ser) c.202G>C (p.Gly68Arg) c.77G>C (p.Trp26Ser) | |
6 | g.136826327G>T | CA365855729 | PEX7 | c.197G>T (p.Trp66Leu) c.72G>T c.83G>T (p.Trp28Leu) c.202G>T (p.Gly68Ter) c.77G>T (p.Trp26Leu) | |
6 | g.136826328G>A | CA4017526 | PEX7 | c.198G>A (p.Trp66Ter) c.73G>A c.84G>A (p.Trp28Ter) c.203G>A (p.Gly68Glu) c.78G>A (p.Trp26Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.136826328G>C | CA365855732 | PEX7 | c.198G>C (p.Trp66Cys) c.73G>C c.84G>C (p.Trp28Cys) c.203G>C (p.Gly68Ala) c.78G>C (p.Trp26Cys) | |
6 | g.136826328G>T | CA365855733 | PEX7 | c.198G>T (p.Trp66Cys) c.73G>T c.84G>T (p.Trp28Cys) c.203G>T (p.Gly68Val) c.78G>T (p.Trp26Cys) | gnomAD v4 |
6 | g.136826329A>C | CA4017527 | PEX7 | c.199A>C (p.Asn67His) c.74A>C c.85A>C (p.Asn29His) c.204A>C (p.Gly68=) c.79A>C (p.Asn27His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.136826329A>G | CA365855734 | PEX7 | c.199A>G (p.Asn67Asp) c.74A>G c.85A>G (p.Asn29Asp) c.204A>G (p.Gly68=) c.79A>G (p.Asn27Asp) | gnomAD v4 |
6 | g.136826329A>T | CA365855735 | PEX7 | c.199A>T (p.Asn67Tyr) c.74A>T c.85A>T (p.Asn29Tyr) c.204A>T (p.Gly68=) c.79A>T (p.Asn27Tyr) | |
6 | g.136826330A>C | CA365855736 | PEX7 | c.200A>C (p.Asn67Thr) c.75A>C c.86A>C (p.Asn29Thr) c.205A>C (p.Met69Leu) c.80A>C (p.Asn27Thr) | |
6 | g.136826330A>G | CA365855737 | PEX7 | c.200A>G (p.Asn67Ser) c.75A>G c.86A>G (p.Asn29Ser) c.205A>G (p.Met69Val) c.80A>G (p.Asn27Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826330A>T | CA365855738 | PEX7 | c.200A>T (p.Asn67Ile) c.75A>T c.86A>T (p.Asn29Ile) c.205A>T (p.Met69Leu) c.80A>T (p.Asn27Ile) | |
6 | g.136826331T>A | CA365855739 | PEX7 | c.201T>A (p.Asn67Lys) c.76T>A c.87T>A (p.Asn29Lys) c.206T>A (p.Met69Lys) c.81T>A (p.Asn27Lys) | |
6 | g.136826331T>C | CA452376311 | PEX7 | c.201T>C (p.Asn67=) c.76T>C c.87T>C (p.Asn29=) c.206T>C (p.Met69Thr) c.81T>C (p.Asn27=) | ClinVar |
6 | g.136826331T>G | CA365855740 | PEX7 | c.201T>G (p.Asn67Lys) c.76T>G c.87T>G (p.Asn29Lys) c.206T>G (p.Met69Arg) c.81T>G (p.Asn27Lys) | |
6 | g.136826332G>A | CA365855743 | PEX7 | c.202G>A (p.Asp68Asn) c.77G>A c.88G>A (p.Asp30Asn) c.207G>A (p.Met69Ile) c.82G>A (p.Asp28Asn) | gnomAD v4 |
6 | g.136826332G>C | CA365855742 | PEX7 | c.202G>C (p.Asp68His) c.77G>C c.88G>C (p.Asp30His) c.207G>C (p.Met69Ile) c.82G>C (p.Asp28His) | |
6 | g.136826332G>T | CA365855741 | PEX7 | c.202G>T (p.Asp68Tyr) c.77G>T c.88G>T (p.Asp30Tyr) c.207G>T (p.Met69Ile) c.82G>T (p.Asp28Tyr) | |
6 | g.136826333A>C | CA365855744 | PEX7 | c.203A>C (p.Asp68Ala) c.78A>C c.89A>C (p.Asp30Ala) c.208A>C (p.Met70Leu) c.83A>C (p.Asp28Ala) | |
6 | g.136826333A>G | CA365855745 | PEX7 | c.203A>G (p.Asp68Gly) c.78A>G c.89A>G (p.Asp30Gly) c.208A>G (p.Met70Val) c.83A>G (p.Asp28Gly) | |
6 | g.136826333A>T | CA4017528 | PEX7 | c.203A>T (p.Asp68Val) c.78A>T c.89A>T (p.Asp30Val) c.208A>T (p.Met70Leu) c.83A>T (p.Asp28Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826334T>A | CA365855746 | PEX7 | c.204T>A (p.Asp68Glu) c.79T>A c.90T>A (p.Asp30Glu) c.209T>A (p.Met70Lys) c.84T>A (p.Asp28Glu) | |
6 | g.136826334T>C | CA452376329 | PEX7 | c.204T>C (p.Asp68=) c.79T>C c.90T>C (p.Asp30=) c.209T>C (p.Met70Thr) c.84T>C (p.Asp28=) | |
6 | g.136826334T>G | CA365855747 | PEX7 | c.204T>G (p.Asp68Glu) c.79T>G c.90T>G (p.Asp30Glu) c.209T>G (p.Met70Arg) c.84T>G (p.Asp28Glu) | |
6 | g.136826335G>A | CA365855748 | PEX7 | c.205G>A (p.Gly69Ser) c.80G>A c.91G>A (p.Gly31Ser) c.210G>A (p.Met70Ile) c.85G>A (p.Gly29Ser) | |
6 | g.136826335G>C | CA365855749 | PEX7 | c.205G>C (p.Gly69Arg) c.80G>C c.91G>C (p.Gly31Arg) c.210G>C (p.Met70Ile) c.85G>C (p.Gly29Arg) | |
6 | g.136826335G>T | CA365855750 | PEX7 | c.205G>T (p.Gly69Cys) c.80G>T c.91G>T (p.Gly31Cys) c.210G>T (p.Met70Ile) c.85G>T (p.Gly29Cys) | |
6 | g.136826336del | CA2580075089 | PEX7 | c.206del (p.Gly69ValfsTer5) c.81del c.92del (p.Gly31ValfsTer5) c.211del (p.Val71PhefsTer3) c.86del (p.Gly29ValfsTer5) | ClinVar |
6 | g.136826336G>A | CA365855751 | PEX7 | c.206G>A (p.Gly69Asp) c.81G>A c.92G>A (p.Gly31Asp) c.211G>A (p.Val71Ile) c.86G>A (p.Gly29Asp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826336G>C | CA365855752 | PEX7 | c.206G>C (p.Gly69Ala) c.81G>C c.92G>C (p.Gly31Ala) c.211G>C (p.Val71Leu) c.86G>C (p.Gly29Ala) | |
6 | g.136826336G>T | CA365855753 | PEX7 | c.206G>T (p.Gly69Val) c.81G>T c.92G>T (p.Gly31Val) c.211G>T (p.Val71Phe) c.86G>T (p.Gly29Val) | |
6 | g.136826337T>A | CA452376342 | PEX7 | c.207T>A (p.Gly69=) c.82T>A c.93T>A (p.Gly31=) c.212T>A (p.Val71Asp) c.87T>A (p.Gly29=) | |
6 | g.136826337T>C | CA452376345 | PEX7 | c.207T>C (p.Gly69=) c.82T>C c.93T>C (p.Gly31=) c.212T>C (p.Val71Ala) c.87T>C (p.Gly29=) | |
6 | g.136826337T>G | CA452376348 | PEX7 | c.207T>G (p.Gly69=) c.82T>G c.93T>G (p.Gly31=) c.212T>G (p.Val71Gly) c.87T>G (p.Gly29=) | |
6 | g.136826338T>A | CA365855754 | PEX7 | c.208T>A (p.Leu70Met) c.83T>A c.94T>A (p.Leu32Met) c.213T>A (p.Val71=) c.88T>A (p.Leu30Met) | |
6 | g.136826338T>C | CA452376352 | PEX7 | c.208T>C (p.Leu70=) c.83T>C c.94T>C (p.Leu32=) c.213T>C (p.Val71=) c.88T>C (p.Leu30=) | ClinVar dbSNP |
6 | g.136826338T>G | CA365855755 | PEX7 | c.208T>G (p.Leu70Val) c.83T>G c.94T>G (p.Leu32Val) c.213T>G (p.Val71=) c.88T>G (p.Leu30Val) | dbSNP |
6 | g.136826339T>A | CA365855757 | PEX7 | c.209T>A (p.Leu70Ter) c.84T>A c.95T>A (p.Leu32Ter) c.214T>A (p.Cys72Ser) c.89T>A (p.Leu30Ter) | |
6 | g.136826339T>C | CA365855758 | PEX7 | c.209T>C (p.Leu70Ser) c.84T>C c.95T>C (p.Leu32Ser) c.214T>C (p.Cys72Arg) c.89T>C (p.Leu30Ser) | |
6 | g.136826339T>G | CA365855756 | PEX7 | c.209T>G (p.Leu70Trp) c.84T>G c.95T>G (p.Leu32Trp) c.214T>G (p.Cys72Gly) c.89T>G (p.Leu30Trp) | ClinVar dbSNP gnomAD v4 |
6 | g.136826340G>A | CA452376361 | PEX7 | c.210G>A (p.Leu70=) c.85G>A c.96G>A (p.Leu32=) c.215G>A (p.Cys72Tyr) c.90G>A (p.Leu30=) | |
6 | g.136826340G>C | CA365855759 | PEX7 | c.210G>C (p.Leu70Phe) c.85G>C c.96G>C (p.Leu32Phe) c.215G>C (p.Cys72Ser) c.90G>C (p.Leu30Phe) | COSMIC |
6 | g.136826340G>T | CA148641168 | PEX7 | c.210G>T (p.Leu70Phe) c.85G>T c.96G>T (p.Leu32Phe) c.215G>T (p.Cys72Phe) c.90G>T (p.Leu30Phe) | dbSNP |
6 | g.136826341T>A | CA365855760 | PEX7 | c.211T>A (p.Phe71Ile) c.86T>A c.97T>A (p.Phe33Ile) c.216T>A (p.Cys72Ter) c.91T>A (p.Phe31Ile) | |
6 | g.136826341T>C | CA365855761 | PEX7 | c.211T>C (p.Phe71Leu) c.86T>C c.97T>C (p.Phe33Leu) c.216T>C (p.Cys72=) c.91T>C (p.Phe31Leu) | |
6 | g.136826341T>G | CA365855762 | PEX7 | c.211T>G (p.Phe71Val) c.86T>G c.97T>G (p.Phe33Val) c.216T>G (p.Cys72Trp) c.91T>G (p.Phe31Val) | |
6 | g.136826343del | CA570744614 | PEX7 | c.213del (p.Phe71LeufsTer3) c.88del c.99del (p.Phe33LeufsTer3) c.218del (p.Leu73Ter) c.93del (p.Phe31LeufsTer3) | ClinVar dbSNP gnomAD v2 |
6 | g.136826342T>A | CA365855763 | PEX7 | c.212T>A (p.Phe71Tyr) c.87T>A c.98T>A (p.Phe33Tyr) c.217T>A (p.Leu73Met) c.92T>A (p.Phe31Tyr) | |
6 | g.136826342T>C | CA148641169 | PEX7 | c.212T>C (p.Phe71Ser) c.87T>C c.98T>C (p.Phe33Ser) c.217T>C (p.Leu73=) c.92T>C (p.Phe31Ser) | ClinVar dbSNP gnomAD v2 |
6 | g.136826342T>G | CA365855764 | PEX7 | c.212T>G (p.Phe71Cys) c.87T>G c.98T>G (p.Phe33Cys) c.217T>G (p.Leu73Val) c.92T>G (p.Phe31Cys) | |
6 | g.136826343T>A | CA365855765 | PEX7 | c.213T>A (p.Phe71Leu) c.88T>A c.99T>A (p.Phe33Leu) c.218T>A (p.Leu73Ter) c.93T>A (p.Phe31Leu) | |
6 | g.136826343T>C | CA452376384 | PEX7 | c.213T>C (p.Phe71=) c.88T>C c.99T>C (p.Phe33=) c.218T>C (p.Leu73Ser) c.93T>C (p.Phe31=) | |
6 | g.136826343T>G | CA365855766 | PEX7 | c.213T>G (p.Phe71Leu) c.88T>G c.99T>G (p.Phe33Leu) c.218T>G (p.Leu73Trp) c.93T>G (p.Phe31Leu) | |
6 | g.136826344G>A | CA365855767 | PEX7 | c.214G>A (p.Asp72Asn) c.89G>A c.100G>A (p.Asp34Asn) c.219G>A (p.Leu73=) c.94G>A (p.Asp32Asn) | dbSNP gnomAD v4 |
6 | g.136826344G>C | CA365855768 | PEX7 | c.214G>C (p.Asp72His) c.89G>C c.100G>C (p.Asp34His) c.219G>C (p.Leu73Phe) c.94G>C (p.Asp32His) | |
6 | g.136826344G>T | CA365855769 | PEX7 | c.214G>T (p.Asp72Tyr) c.89G>T c.100G>T (p.Asp34Tyr) c.219G>T (p.Leu73Phe) c.94G>T (p.Asp32Tyr) | gnomAD v4 |
6 | g.136826345A>C | CA365855772 | PEX7 | c.215A>C (p.Asp72Ala) c.90A>C c.101A>C (p.Asp34Ala) c.220A>C (p.Met74Leu) c.95A>C (p.Asp32Ala) | |
6 | g.136826345A>G | CA365855771 | PEX7 | c.215A>G (p.Asp72Gly) c.90A>G c.101A>G (p.Asp34Gly) c.220A>G (p.Met74Val) c.95A>G (p.Asp32Gly) | |
6 | g.136826345A>T | CA365855770 | PEX7 | c.215A>T (p.Asp72Val) c.90A>T c.101A>T (p.Asp34Val) c.220A>T (p.Met74Leu) c.95A>T (p.Asp32Val) | gnomAD v4 |
6 | g.136826346T>A | CA365855773 | PEX7 | c.216T>A (p.Asp72Glu) c.91T>A c.102T>A (p.Asp34Glu) c.221T>A (p.Met74Lys) c.96T>A (p.Asp32Glu) | gnomAD v4 |
6 | g.136826346T>C | CA452376402 | PEX7 | c.216T>C (p.Asp72=) c.91T>C c.102T>C (p.Asp34=) c.221T>C (p.Met74Thr) c.96T>C (p.Asp32=) | ClinVar dbSNP gnomAD v4 |
6 | g.136826346T>G | CA365855774 | PEX7 | c.216T>G (p.Asp72Glu) c.91T>G c.102T>G (p.Asp34Glu) c.221T>G (p.Met74Arg) c.96T>G (p.Asp32Glu) | |
6 | g.136826347G>A | CA4017529 | PEX7 | c.217G>A (p.Val73Met) c.92G>A c.103G>A (p.Val35Met) c.222G>A (p.Met74Ile) c.97G>A (p.Val33Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.136826347G>C | CA365855775 | PEX7 | c.217G>C (p.Val73Leu) c.92G>C c.103G>C (p.Val35Leu) c.222G>C (p.Met74Ile) c.97G>C (p.Val33Leu) | |
6 | g.136826347G>T | CA365855776 | PEX7 | c.217G>T (p.Val73Leu) c.92G>T c.103G>T (p.Val35Leu) c.222G>T (p.Met74Ile) c.97G>T (p.Val33Leu) |