| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136866634G>A | CA452227788 | PEX7 | c.534G>A (p.Gln178=) c.222G>A c.420G>A (p.Gln140=) c.539G>A (n.539G>A) c.414G>A (p.Gln138=) c.340-3256G>A (n.340-3256G>A) c.526+20453G>A (n.526+20453G>A) | gnomAD v4 |
| 6 | g.136866634G>C | CA4017656 | PEX7 | c.534G>C (p.Gln178His) c.222G>C c.420G>C (p.Gln140His) c.539G>C (n.539G>C) c.414G>C (p.Gln138His) c.340-3256G>C (n.340-3256G>C) c.526+20453G>C (n.526+20453G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136866634G>T | CA365762807 | PEX7 | c.534G>T (p.Gln178His) c.222G>T c.420G>T (p.Gln140His) c.539G>T (n.539G>T) c.414G>T (p.Gln138His) c.340-3256G>T (n.340-3256G>T) c.526+20453G>T (n.526+20453G>T) | dbSNP gnomAD v4 |
| 6 | g.136866635A>C | CA365762808 | PEX7 | c.535A>C (p.Thr179Pro) c.223A>C c.421A>C (p.Thr141Pro) c.540A>C (n.540A>C) c.415A>C (p.Thr139Pro) c.340-3255A>C (n.340-3255A>C) c.526+20454A>C (n.526+20454A>C) | |
| 6 | g.136866635A>G | CA365762809 | PEX7 | c.535A>G (p.Thr179Ala) c.223A>G c.421A>G (p.Thr141Ala) c.540A>G (n.540A>G) c.415A>G (p.Thr139Ala) c.340-3255A>G (n.340-3255A>G) c.526+20454A>G (n.526+20454A>G) | |
| 6 | g.136866635A>T | CA365762810 | PEX7 | c.535A>T (p.Thr179Ser) c.223A>T c.421A>T (p.Thr141Ser) c.540A>T (n.540A>T) c.415A>T (p.Thr139Ser) c.340-3255A>T (n.340-3255A>T) c.526+20454A>T (n.526+20454A>T) | |
| 6 | g.136866636C>A | CA365762811 | PEX7 | c.536C>A (p.Thr179Asn) c.224C>A c.422C>A (p.Thr141Asn) c.541C>A (n.541C>A) c.416C>A (p.Thr139Asn) c.340-3254C>A (n.340-3254C>A) c.526+20455C>A (n.526+20455C>A) | dbSNP |
| 6 | g.136866636C>G | CA365762812 | PEX7 | c.536C>G (p.Thr179Ser) c.224C>G c.422C>G (p.Thr141Ser) c.541C>G (n.541C>G) c.416C>G (p.Thr139Ser) c.340-3254C>G (n.340-3254C>G) c.526+20455C>G (n.526+20455C>G) | |
| 6 | g.136866636C>T | CA365762813 | PEX7 | c.536C>T (p.Thr179Ile) c.224C>T c.422C>T (p.Thr141Ile) c.541C>T (n.541C>T) c.416C>T (p.Thr139Ile) c.340-3254C>T (n.340-3254C>T) c.526+20455C>T (n.526+20455C>T) | |
| 6 | g.136866638_136866639del | CA915944389 | PEX7 | c.538_539del (p.Leu180GlufsTer25) c.226_227del c.424_425del (p.Leu142GlufsTer25) c.543_544del (n.543_544del) c.418_419del (p.Leu140GlufsTer25) c.340-3252_340-3251del (n.340-3252_340-3251del) c.526+20457_526+20458del (n.526+20457_526+20458del) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136866637T>A | CA452227791 | PEX7 | c.537T>A (p.Thr179=) c.225T>A c.423T>A (p.Thr141=) c.542T>A (n.542T>A) c.417T>A (p.Thr139=) c.340-3253T>A (n.340-3253T>A) c.526+20456T>A (n.526+20456T>A) | |
| 6 | g.136866637T>C | CA452227789 | PEX7 | c.537T>C (p.Thr179=) c.225T>C c.423T>C (p.Thr141=) c.542T>C (n.542T>C) c.417T>C (p.Thr139=) c.340-3253T>C (n.340-3253T>C) c.526+20456T>C (n.526+20456T>C) | |
| 6 | g.136866637T>G | CA452227790 | PEX7 | c.537T>G (p.Thr179=) c.225T>G c.423T>G (p.Thr141=) c.542T>G (n.542T>G) c.417T>G (p.Thr139=) c.340-3253T>G (n.340-3253T>G) c.526+20456T>G (n.526+20456T>G) | |
| 6 | g.136866638del | CA645372434 | PEX7 | c.538del (p.Leu180Ter) c.226del c.424del (p.Leu142Ter) c.543del (n.543del) c.418del (p.Leu140Ter) c.340-3252del (n.340-3252del) c.526+20457del (n.526+20457del) | ClinVar dbSNP |
| 6 | g.136866638C>A | CA365762814 | PEX7 | c.538C>A (p.Leu180Met) c.226C>A c.424C>A (p.Leu142Met) c.543C>A (n.543C>A) c.418C>A (p.Leu140Met) c.340-3252C>A (n.340-3252C>A) c.526+20457C>A (n.526+20457C>A) | ClinVar |
| 6 | g.136866638C>G | CA365762815 | PEX7 | c.538C>G (p.Leu180Val) c.226C>G c.424C>G (p.Leu142Val) c.543C>G (n.543C>G) c.418C>G (p.Leu140Val) c.340-3252C>G (n.340-3252C>G) c.526+20457C>G (n.526+20457C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136866638C>T | CA452227792 | PEX7 | c.538C>T (p.Leu180=) c.226C>T c.424C>T (p.Leu142=) c.543C>T (n.543C>T) c.418C>T (p.Leu140=) c.340-3252C>T (n.340-3252C>T) c.526+20457C>T (n.526+20457C>T) | |
| 6 | g.136866639T>A | CA365762816 | PEX7 | c.539T>A (p.Leu180Gln) c.227T>A c.425T>A (p.Leu142Gln) c.544T>A (n.544T>A) c.419T>A (p.Leu140Gln) c.340-3251T>A (n.340-3251T>A) c.526+20458T>A (n.526+20458T>A) | |
| 6 | g.136866639T>C | CA365762817 | PEX7 | c.539T>C (p.Leu180Pro) c.227T>C c.425T>C (p.Leu142Pro) c.544T>C (n.544T>C) c.419T>C (p.Leu140Pro) c.340-3251T>C (n.340-3251T>C) c.526+20458T>C (n.526+20458T>C) | ClinVar COSMIC |
| 6 | g.136866639T>G | CA365762818 | PEX7 | c.539T>G (p.Leu180Arg) c.227T>G c.425T>G (p.Leu142Arg) c.544T>G (n.544T>G) c.419T>G (p.Leu140Arg) c.340-3251T>G (n.340-3251T>G) c.526+20458T>G (n.526+20458T>G) | |
| 6 | g.136866639dup | CA2695207159 | PEX7 | c.539dup (p.Arg181GlufsTer25) c.227dup c.425dup (p.Arg143GlufsTer25) c.544dup (n.544dup) c.419dup (p.Arg141GlufsTer25) c.340-3251dup (n.340-3251dup) c.526+20458dup (n.526+20458dup) | |
| 6 | g.136866640G>A | CA452227793 | PEX7 | c.540G>A (p.Leu180=) c.228G>A c.426G>A (p.Leu142=) c.545G>A (n.545G>A) c.420G>A (p.Leu140=) c.340-3250G>A (n.340-3250G>A) c.526+20459G>A (n.526+20459G>A) | gnomAD v4 |
| 6 | g.136866640G>C | CA452227795 | PEX7 | c.540G>C (p.Leu180=) c.228G>C c.426G>C (p.Leu142=) c.545G>C (n.545G>C) c.420G>C (p.Leu140=) c.340-3250G>C (n.340-3250G>C) c.526+20459G>C (n.526+20459G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136866640G>T | CA452227794 | PEX7 | c.540G>T (p.Leu180=) c.228G>T c.426G>T (p.Leu142=) c.545G>T (n.545G>T) c.420G>T (p.Leu140=) c.340-3250G>T (n.340-3250G>T) c.526+20459G>T (n.526+20459G>T) | |
| 6 | g.136866641A>C | CA452227796 | PEX7 | c.541A>C (p.Arg181=) c.229A>C c.427A>C (p.Arg143=) c.546A>C (n.546A>C) c.421A>C (p.Arg141=) c.340-3249A>C (n.340-3249A>C) c.526+20460A>C (n.526+20460A>C) | |
| 6 | g.136866641A>G | CA365762819 | PEX7 | c.541A>G (p.Arg181Gly) c.229A>G c.427A>G (p.Arg143Gly) c.546A>G (n.546A>G) c.421A>G (p.Arg141Gly) c.340-3249A>G (n.340-3249A>G) c.526+20460A>G (n.526+20460A>G) | |
| 6 | g.136866641A>T | CA365762820 | PEX7 | c.541A>T (p.Arg181Ter) c.229A>T c.427A>T (p.Arg143Ter) c.546A>T (n.546A>T) c.421A>T (p.Arg141Ter) c.340-3249A>T (n.340-3249A>T) c.526+20460A>T (n.526+20460A>T) | |
| 6 | g.136866642G>A | CA365762821 | PEX7 | c.542G>A (p.Arg181Lys) c.230G>A c.428G>A (p.Arg143Lys) c.547G>A (n.547G>A) c.422G>A (p.Arg141Lys) c.340-3248G>A (n.340-3248G>A) c.526+20461G>A (n.526+20461G>A) | |
| 6 | g.136866642G>C | CA365762822 | PEX7 | c.542G>C (p.Arg181Thr) c.230G>C c.428G>C (p.Arg143Thr) c.547G>C (n.547G>C) c.422G>C (p.Arg141Thr) c.340-3248G>C (n.340-3248G>C) c.526+20461G>C (n.526+20461G>C) | |
| 6 | g.136866642G>T | CA4017657 | PEX7 | c.542G>T (p.Arg181Ile) c.230G>T c.428G>T (p.Arg143Ile) c.547G>T (n.547G>T) c.422G>T (p.Arg141Ile) c.340-3248G>T (n.340-3248G>T) c.526+20461G>T (n.526+20461G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136866643A>C | CA365762823 | PEX7 | c.543A>C (p.Arg181Ser) c.231A>C c.429A>C (p.Arg143Ser) c.548A>C (n.548A>C) c.423A>C (p.Arg141Ser) c.340-3247A>C (n.340-3247A>C) c.526+20462A>C (n.526+20462A>C) | |
| 6 | g.136866643A>G | CA452227797 | PEX7 | c.543A>G (p.Arg181=) c.231A>G c.429A>G (p.Arg143=) c.548A>G (n.548A>G) c.423A>G (p.Arg141=) c.340-3247A>G (n.340-3247A>G) c.526+20462A>G (n.526+20462A>G) | COSMIC |
| 6 | g.136866643A>T | CA365762824 | PEX7 | c.543A>T (p.Arg181Ser) c.231A>T c.429A>T (p.Arg143Ser) c.548A>T (n.548A>T) c.423A>T (p.Arg141Ser) c.340-3247A>T (n.340-3247A>T) c.526+20462A>T (n.526+20462A>T) | |
| 6 | g.136866644A>C | CA365762825 | PEX7 | c.544A>C (p.Ile182Leu) c.232A>C c.430A>C (p.Ile144Leu) c.549A>C (n.549A>C) c.424A>C (p.Ile142Leu) c.340-3246A>C (n.340-3246A>C) c.526+20463A>C (n.526+20463A>C) | |
| 6 | g.136866644A>G | CA365762826 | PEX7 | c.544A>G (p.Ile182Val) c.232A>G c.430A>G (p.Ile144Val) c.549A>G (n.549A>G) c.424A>G (p.Ile142Val) c.340-3246A>G (n.340-3246A>G) c.526+20463A>G (n.526+20463A>G) | gnomAD v4 |
| 6 | g.136866644A>T | CA365762827 | PEX7 | c.544A>T (p.Ile182Leu) c.232A>T c.430A>T (p.Ile144Leu) c.549A>T (n.549A>T) c.424A>T (p.Ile142Leu) c.340-3246A>T (n.340-3246A>T) c.526+20463A>T (n.526+20463A>T) | |
| 6 | g.136866646_136866647del | CA2580615782 | PEX7 | c.546_547del (p.Ile182MetfsTer23) c.234_235del c.432_433del (p.Ile144MetfsTer23) c.551_552del (n.551_552del) c.426_427del (p.Ile142MetfsTer23) c.340-3244_340-3243del (n.340-3244_340-3243del) c.526+20465_526+20466del (n.526+20465_526+20466del) | dbSNP |
| 6 | g.136866645T>A | CA365762828 | PEX7 | c.545T>A (p.Ile182Lys) c.233T>A c.431T>A (p.Ile144Lys) c.550T>A (n.550T>A) c.425T>A (p.Ile142Lys) c.340-3245T>A (n.340-3245T>A) c.526+20464T>A (n.526+20464T>A) | |
| 6 | g.136866645T>C | CA365762829 | PEX7 | c.545T>C (p.Ile182Thr) c.233T>C c.431T>C (p.Ile144Thr) c.550T>C (n.550T>C) c.425T>C (p.Ile142Thr) c.340-3245T>C (n.340-3245T>C) c.526+20464T>C (n.526+20464T>C) | |
| 6 | g.136866645T>G | CA365762830 | PEX7 | c.545T>G (p.Ile182Arg) c.233T>G c.431T>G (p.Ile144Arg) c.550T>G (n.550T>G) c.425T>G (p.Ile142Arg) c.340-3245T>G (n.340-3245T>G) c.526+20464T>G (n.526+20464T>G) | gnomAD v4 |
| 6 | g.136866645dup | CA16041016 | PEX7 | c.545dup (p.Trp183MetfsTer23) c.233dup c.431dup (p.Trp145MetfsTer23) c.550dup (n.550dup) c.425dup (p.Trp143MetfsTer23) c.340-3245dup (n.340-3245dup) c.526+20464dup (n.526+20464dup) | ClinVar dbSNP |
| 6 | g.136866646A>C | CA452227798 | PEX7 | c.546A>C (p.Ile182=) c.234A>C c.432A>C (p.Ile144=) c.551A>C (n.551A>C) c.426A>C (p.Ile142=) c.340-3244A>C (n.340-3244A>C) c.526+20465A>C (n.526+20465A>C) | |
| 6 | g.136866646A>G | CA4017658 | PEX7 | c.546A>G (p.Ile182Met) c.234A>G c.432A>G (p.Ile144Met) c.551A>G (n.551A>G) c.426A>G (p.Ile142Met) c.340-3244A>G (n.340-3244A>G) c.526+20465A>G (n.526+20465A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136866646A>T | CA452227799 | PEX7 | c.546A>T (p.Ile182=) c.234A>T c.432A>T (p.Ile144=) c.551A>T (n.551A>T) c.426A>T (p.Ile142=) c.340-3244A>T (n.340-3244A>T) c.526+20465A>T (n.526+20465A>T) | |
| 6 | g.136866647T>A | CA365762836 | PEX7 | c.547T>A (p.Trp183Arg) c.235T>A c.433T>A (p.Trp145Arg) c.552T>A (n.552T>A) c.427T>A (p.Trp143Arg) c.340-3243T>A (n.340-3243T>A) c.526+20466T>A (n.526+20466T>A) | |
| 6 | g.136866647T>C | CA365762834 | PEX7 | c.547T>C (p.Trp183Arg) c.235T>C c.433T>C (p.Trp145Arg) c.552T>C (n.552T>C) c.427T>C (p.Trp143Arg) c.340-3243T>C (n.340-3243T>C) c.526+20466T>C (n.526+20466T>C) | |
| 6 | g.136866647T>G | CA365762832 | PEX7 | c.547T>G (p.Trp183Gly) c.235T>G c.433T>G (p.Trp145Gly) c.552T>G (n.552T>G) c.427T>G (p.Trp143Gly) c.340-3243T>G (n.340-3243T>G) c.526+20466T>G (n.526+20466T>G) | gnomAD v4 |
| 6 | g.136866648G>A | CA365762842 | PEX7 | c.548G>A (p.Trp183Ter) c.236G>A c.434G>A (p.Trp145Ter) c.553G>A (n.553G>A) c.428G>A (p.Trp143Ter) c.340-3242G>A (n.340-3242G>A) c.526+20467G>A (n.526+20467G>A) | |
| 6 | g.136866648G>C | CA365762837 | PEX7 | c.548G>C (p.Trp183Ser) c.236G>C c.434G>C (p.Trp145Ser) c.553G>C (n.553G>C) c.428G>C (p.Trp143Ser) c.340-3242G>C (n.340-3242G>C) c.526+20467G>C (n.526+20467G>C) | |
| 6 | g.136866648G>T | CA365762840 | PEX7 | c.548G>T (p.Trp183Leu) c.236G>T c.434G>T (p.Trp145Leu) c.553G>T (n.553G>T) c.428G>T (p.Trp143Leu) c.340-3242G>T (n.340-3242G>T) c.526+20467G>T (n.526+20467G>T) |