| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136866625A>C | CA365762785 | PEX7 | c.527-2A>C (n.527-2A>C) c.215-2A>C c.413-2A>C (n.413-2A>C) c.532-2A>C (n.532-2A>C) c.407-2A>C (n.407-2A>C) c.340-3265A>C (n.340-3265A>C) c.526+20444A>C (n.526+20444A>C) | |
| 6 | g.136866625A>G | CA16041015 | PEX7 | c.527-2A>G (n.527-2A>G) c.215-2A>G c.413-2A>G (n.413-2A>G) c.532-2A>G (n.532-2A>G) c.407-2A>G (n.407-2A>G) c.340-3265A>G (n.340-3265A>G) c.526+20444A>G (n.526+20444A>G) | ClinVar dbSNP |
| 6 | g.136866625A>T | CA365762786 | PEX7 | c.527-2A>T (n.527-2A>T) c.215-2A>T c.413-2A>T (n.413-2A>T) c.532-2A>T (n.532-2A>T) c.407-2A>T (n.407-2A>T) c.340-3265A>T (n.340-3265A>T) c.526+20444A>T (n.526+20444A>T) | |
| 6 | g.136866626G>A | CA365762789 | PEX7 | c.527-1G>A (n.527-1G>A) c.215-1G>A c.413-1G>A (n.413-1G>A) c.532-1G>A (n.532-1G>A) c.407-1G>A (n.407-1G>A) c.340-3264G>A (n.340-3264G>A) c.526+20445G>A (n.526+20445G>A) | COSMIC |
| 6 | g.136866626G>C | CA365762788 | PEX7 | c.527-1G>C (n.527-1G>C) c.215-1G>C c.413-1G>C (n.413-1G>C) c.532-1G>C (n.532-1G>C) c.407-1G>C (n.407-1G>C) c.340-3264G>C (n.340-3264G>C) c.526+20445G>C (n.526+20445G>C) | gnomAD v4 |
| 6 | g.136866626G>T | CA365762787 | PEX7 | c.527-1G>T (n.527-1G>T) c.215-1G>T c.413-1G>T (n.413-1G>T) c.532-1G>T (n.532-1G>T) c.407-1G>T (n.407-1G>T) c.340-3264G>T (n.340-3264G>T) c.526+20445G>T (n.526+20445G>T) | |
| 6 | g.136866627G>A | CA365762790 | PEX7 | c.527G>A (p.Gly176Asp) c.215G>A c.413G>A (p.Gly138Asp) c.532G>A (n.532G>A) c.407G>A (p.Gly136Asp) c.340-3263G>A (n.340-3263G>A) c.526+20446G>A (n.526+20446G>A) | gnomAD v4 |
| 6 | g.136866627G>C | CA365762791 | PEX7 | c.527G>C (p.Gly176Ala) c.215G>C c.413G>C (p.Gly138Ala) c.532G>C (n.532G>C) c.407G>C (p.Gly136Ala) c.340-3263G>C (n.340-3263G>C) c.526+20446G>C (n.526+20446G>C) | |
| 6 | g.136866627G>T | CA365762792 | PEX7 | c.527G>T (p.Gly176Val) c.215G>T c.413G>T (p.Gly138Val) c.532G>T (n.532G>T) c.407G>T (p.Gly136Val) c.340-3263G>T (n.340-3263G>T) c.526+20446G>T (n.526+20446G>T) | |
| 6 | g.136866628T>A | CA452227784 | PEX7 | c.528T>A (p.Gly176=) c.216T>A c.414T>A (p.Gly138=) c.533T>A (n.533T>A) c.408T>A (p.Gly136=) c.340-3262T>A (n.340-3262T>A) c.526+20447T>A (n.526+20447T>A) | |
| 6 | g.136866628T>C | CA452227785 | PEX7 | c.528T>C (p.Gly176=) c.216T>C c.414T>C (p.Gly138=) c.533T>C (n.533T>C) c.408T>C (p.Gly136=) c.340-3262T>C (n.340-3262T>C) c.526+20447T>C (n.526+20447T>C) | |
| 6 | g.136866628T>G | CA452227786 | PEX7 | c.528T>G (p.Gly176=) c.216T>G c.414T>G (p.Gly138=) c.533T>G (n.533T>G) c.408T>G (p.Gly136=) c.340-3262T>G (n.340-3262T>G) c.526+20447T>G (n.526+20447T>G) | gnomAD v4 |
| 6 | g.136866629G>A | CA365762793 | PEX7 | c.529G>A (p.Asp177Asn) c.217G>A c.415G>A (p.Asp139Asn) c.534G>A (n.534G>A) c.409G>A (p.Asp137Asn) c.340-3261G>A (n.340-3261G>A) c.526+20448G>A (n.526+20448G>A) | |
| 6 | g.136866629G>C | CA365762794 | PEX7 | c.529G>C (p.Asp177His) c.217G>C c.415G>C (p.Asp139His) c.534G>C (n.534G>C) c.409G>C (p.Asp137His) c.340-3261G>C (n.340-3261G>C) c.526+20448G>C (n.526+20448G>C) | |
| 6 | g.136866629G>T | CA365762795 | PEX7 | c.529G>T (p.Asp177Tyr) c.217G>T c.415G>T (p.Asp139Tyr) c.534G>T (n.534G>T) c.409G>T (p.Asp137Tyr) c.340-3261G>T (n.340-3261G>T) c.526+20448G>T (n.526+20448G>T) | |
| 6 | g.136866630A>C | CA365762796 | PEX7 | c.530A>C (p.Asp177Ala) c.218A>C c.416A>C (p.Asp139Ala) c.535A>C (n.535A>C) c.410A>C (p.Asp137Ala) c.340-3260A>C (n.340-3260A>C) c.526+20449A>C (n.526+20449A>C) | |
| 6 | g.136866630A>G | CA365762797 | PEX7 | c.530A>G (p.Asp177Gly) c.218A>G c.416A>G (p.Asp139Gly) c.535A>G (n.535A>G) c.410A>G (p.Asp137Gly) c.340-3260A>G (n.340-3260A>G) c.526+20449A>G (n.526+20449A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136866630A>T | CA365762798 | PEX7 | c.530A>T (p.Asp177Val) c.218A>T c.416A>T (p.Asp139Val) c.535A>T (n.535A>T) c.410A>T (p.Asp137Val) c.340-3260A>T (n.340-3260A>T) c.526+20449A>T (n.526+20449A>T) | |
| 6 | g.136866631T>A | CA365762799 | PEX7 | c.531T>A (p.Asp177Glu) c.219T>A c.417T>A (p.Asp139Glu) c.536T>A (n.536T>A) c.411T>A (p.Asp137Glu) c.340-3259T>A (n.340-3259T>A) c.526+20450T>A (n.526+20450T>A) | |
| 6 | g.136866631T>C | CA452227787 | PEX7 | c.531T>C (p.Asp177=) c.219T>C c.417T>C (p.Asp139=) c.536T>C (n.536T>C) c.411T>C (p.Asp137=) c.340-3259T>C (n.340-3259T>C) c.526+20450T>C (n.526+20450T>C) | |
| 6 | g.136866631T>G | CA365762800 | PEX7 | c.531T>G (p.Asp177Glu) c.219T>G c.417T>G (p.Asp139Glu) c.536T>G (n.536T>G) c.411T>G (p.Asp137Glu) c.340-3259T>G (n.340-3259T>G) c.526+20450T>G (n.526+20450T>G) | ClinVar dbSNP |
| 6 | g.136866632C>A | CA365762801 | PEX7 | c.532C>A (p.Gln178Lys) c.220C>A c.418C>A (p.Gln140Lys) c.537C>A (n.537C>A) c.412C>A (p.Gln138Lys) c.340-3258C>A (n.340-3258C>A) c.526+20451C>A (n.526+20451C>A) | ClinVar gnomAD v4 |
| 6 | g.136866632C>G | CA365762802 | PEX7 | c.532C>G (p.Gln178Glu) c.220C>G c.418C>G (p.Gln140Glu) c.537C>G (n.537C>G) c.412C>G (p.Gln138Glu) c.340-3258C>G (n.340-3258C>G) c.526+20451C>G (n.526+20451C>G) | |
| 6 | g.136866632C>T | CA365762803 | PEX7 | c.532C>T (p.Gln178Ter) c.220C>T c.418C>T (p.Gln140Ter) c.537C>T (n.537C>T) c.412C>T (p.Gln138Ter) c.340-3258C>T (n.340-3258C>T) c.526+20451C>T (n.526+20451C>T) | |
| 6 | g.136866633A>C | CA365762805 | PEX7 | c.533A>C (p.Gln178Pro) c.221A>C c.419A>C (p.Gln140Pro) c.538A>C (n.538A>C) c.413A>C (p.Gln138Pro) c.340-3257A>C (n.340-3257A>C) c.526+20452A>C (n.526+20452A>C) | |
| 6 | g.136866633A>G | CA365762806 | PEX7 | c.533A>G (p.Gln178Arg) c.221A>G c.419A>G (p.Gln140Arg) c.538A>G (n.538A>G) c.413A>G (p.Gln138Arg) c.340-3257A>G (n.340-3257A>G) c.526+20452A>G (n.526+20452A>G) | ClinVar gnomAD v4 |
| 6 | g.136866633A>T | CA365762804 | PEX7 | c.533A>T (p.Gln178Leu) c.221A>T c.419A>T (p.Gln140Leu) c.538A>T (n.538A>T) c.413A>T (p.Gln138Leu) c.340-3257A>T (n.340-3257A>T) c.526+20452A>T (n.526+20452A>T) | |
| 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 |