Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | ClinVar 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) | |
6 | g.136866649G>A | CA365762844 | PEX7 | c.549G>A (p.Trp183Ter) c.237G>A c.435G>A (p.Trp145Ter) c.554G>A (n.554G>A) c.429G>A (p.Trp143Ter) c.340-3241G>A (n.340-3241G>A) c.526+20468G>A (n.526+20468G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.136866649G>C | CA148198068 | PEX7 | c.549G>C (p.Trp183Cys) c.237G>C c.435G>C (p.Trp145Cys) c.554G>C (n.554G>C) c.429G>C (p.Trp143Cys) c.340-3241G>C (n.340-3241G>C) c.526+20468G>C (n.526+20468G>C) | dbSNP gnomAD v4 |
6 | g.136866649G>T | CA365762847 | PEX7 | c.549G>T (p.Trp183Cys) c.237G>T c.435G>T (p.Trp145Cys) c.554G>T (n.554G>T) c.429G>T (p.Trp143Cys) c.340-3241G>T (n.340-3241G>T) c.526+20468G>T (n.526+20468G>T) | |
6 | g.136866650G>A | CA365762850 | PEX7 | c.550G>A (p.Asp184Asn) c.238G>A c.436G>A (p.Asp146Asn) c.555G>A (n.555G>A) c.430G>A (p.Asp144Asn) c.340-3240G>A (n.340-3240G>A) c.526+20469G>A (n.526+20469G>A) | gnomAD v4 |
6 | g.136866650G>C | CA365762852 | PEX7 | c.550G>C (p.Asp184His) c.238G>C c.436G>C (p.Asp146His) c.555G>C (n.555G>C) c.430G>C (p.Asp144His) c.340-3240G>C (n.340-3240G>C) c.526+20469G>C (n.526+20469G>C) | dbSNP gnomAD v4 |
6 | g.136866650G>T | CA365762853 | PEX7 | c.550G>T (p.Asp184Tyr) c.238G>T c.436G>T (p.Asp146Tyr) c.555G>T (n.555G>T) c.430G>T (p.Asp144Tyr) c.340-3240G>T (n.340-3240G>T) c.526+20469G>T (n.526+20469G>T) | |
6 | g.136866651A>C | CA365762856 | PEX7 | c.551A>C (p.Asp184Ala) c.239A>C c.437A>C (p.Asp146Ala) c.556A>C (n.556A>C) c.431A>C (p.Asp144Ala) c.340-3239A>C (n.340-3239A>C) c.526+20470A>C (n.526+20470A>C) | |
6 | g.136866651A>G | CA365762860 | PEX7 | c.551A>G (p.Asp184Gly) c.239A>G c.437A>G (p.Asp146Gly) c.556A>G (n.556A>G) c.431A>G (p.Asp144Gly) c.340-3239A>G (n.340-3239A>G) c.526+20470A>G (n.526+20470A>G) | dbSNP |
6 | g.136866651A>T | CA365762858 | PEX7 | c.551A>T (p.Asp184Val) c.239A>T c.437A>T (p.Asp146Val) c.556A>T (n.556A>T) c.431A>T (p.Asp144Val) c.340-3239A>T (n.340-3239A>T) c.526+20470A>T (n.526+20470A>T) | |
6 | g.136866652T>A | CA365762862 | PEX7 | c.552T>A (p.Asp184Glu) c.240T>A c.438T>A (p.Asp146Glu) c.557T>A (n.557T>A) c.432T>A (p.Asp144Glu) c.340-3238T>A (n.340-3238T>A) c.526+20471T>A (n.526+20471T>A) | |
6 | g.136866652T>C | CA452227800 | PEX7 | c.552T>C (p.Asp184=) c.240T>C c.438T>C (p.Asp146=) c.557T>C (n.557T>C) c.432T>C (p.Asp144=) c.340-3238T>C (n.340-3238T>C) c.526+20471T>C (n.526+20471T>C) | |
6 | g.136866652T>G | CA365762864 | PEX7 | c.552T>G (p.Asp184Glu) c.240T>G c.438T>G (p.Asp146Glu) c.557T>G (n.557T>G) c.432T>G (p.Asp144Glu) c.340-3238T>G (n.340-3238T>G) c.526+20471T>G (n.526+20471T>G) | |
6 | g.136866653G>A | CA365762866 | PEX7 | c.553G>A (p.Val185Met) c.241G>A c.439G>A (p.Val147Met) c.558G>A (n.558G>A) c.433G>A (p.Val145Met) c.340-3237G>A (n.340-3237G>A) c.526+20472G>A (n.526+20472G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136866653G>C | CA365762868 | PEX7 | c.553G>C (p.Val185Leu) c.241G>C c.439G>C (p.Val147Leu) c.558G>C (n.558G>C) c.433G>C (p.Val145Leu) c.340-3237G>C (n.340-3237G>C) c.526+20472G>C (n.526+20472G>C) | |
6 | g.136866653G>T | CA365762870 | PEX7 | c.553G>T (p.Val185Leu) c.241G>T c.439G>T (p.Val147Leu) c.558G>T (n.558G>T) c.433G>T (p.Val145Leu) c.340-3237G>T (n.340-3237G>T) c.526+20472G>T (n.526+20472G>T) | |
6 | g.136866654T>A | CA365762873 | PEX7 | c.554T>A (p.Val185Glu) c.242T>A c.440T>A (p.Val147Glu) c.559T>A (n.559T>A) c.434T>A (p.Val145Glu) c.340-3236T>A (n.340-3236T>A) c.526+20473T>A (n.526+20473T>A) | |
6 | g.136866654T>C | CA365762876 | PEX7 | c.554T>C (p.Val185Ala) c.242T>C c.440T>C (p.Val147Ala) c.559T>C (n.559T>C) c.434T>C (p.Val145Ala) c.340-3236T>C (n.340-3236T>C) c.526+20473T>C (n.526+20473T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.136866654T>G | CA365762874 | PEX7 | c.554T>G (p.Val185Gly) c.242T>G c.440T>G (p.Val147Gly) c.559T>G (n.559T>G) c.434T>G (p.Val145Gly) c.340-3236T>G (n.340-3236T>G) c.526+20473T>G (n.526+20473T>G) | |
6 | g.136866655G>A | CA452227803 | PEX7 | c.555G>A (p.Val185=) c.243G>A c.441G>A (p.Val147=) c.560G>A (n.560G>A) c.435G>A (p.Val145=) c.340-3235G>A (n.340-3235G>A) c.526+20474G>A (n.526+20474G>A) | |
6 | g.136866655G>C | CA452227802 | PEX7 | c.555G>C (p.Val185=) c.243G>C c.441G>C (p.Val147=) c.560G>C (n.560G>C) c.435G>C (p.Val145=) c.340-3235G>C (n.340-3235G>C) c.526+20474G>C (n.526+20474G>C) | dbSNP |
6 | g.136866655G>T | CA452227801 | PEX7 | c.555G>T (p.Val185=) c.243G>T c.441G>T (p.Val147=) c.560G>T (n.560G>T) c.435G>T (p.Val145=) c.340-3235G>T (n.340-3235G>T) c.526+20474G>T (n.526+20474G>T) | |
6 | g.136866656A>C | CA365762880 | PEX7 | c.556A>C (p.Lys186Gln) c.244A>C c.442A>C (p.Lys148Gln) c.561A>C (n.561A>C) c.436A>C (p.Lys146Gln) c.340-3234A>C (n.340-3234A>C) c.526+20475A>C (n.526+20475A>C) | |
6 | g.136866656A>G | CA365762882 | PEX7 | c.556A>G (p.Lys186Glu) c.244A>G c.442A>G (p.Lys148Glu) c.561A>G (n.561A>G) c.436A>G (p.Lys146Glu) c.340-3234A>G (n.340-3234A>G) c.526+20475A>G (n.526+20475A>G) | |
6 | g.136866656A>T | CA365762884 | PEX7 | c.556A>T (p.Lys186Ter) c.244A>T c.442A>T (p.Lys148Ter) c.561A>T (n.561A>T) c.436A>T (p.Lys146Ter) c.340-3234A>T (n.340-3234A>T) c.526+20475A>T (n.526+20475A>T) | |
6 | g.136866657A>C | CA365762887 | PEX7 | c.557A>C (p.Lys186Thr) c.245A>C c.443A>C (p.Lys148Thr) c.562A>C (n.562A>C) c.437A>C (p.Lys146Thr) c.340-3233A>C (n.340-3233A>C) c.526+20476A>C (n.526+20476A>C) | |
6 | g.136866657A>G | CA365762888 | PEX7 | c.557A>G (p.Lys186Arg) c.245A>G c.443A>G (p.Lys148Arg) c.562A>G (n.562A>G) c.437A>G (p.Lys146Arg) c.340-3233A>G (n.340-3233A>G) c.526+20476A>G (n.526+20476A>G) | |
6 | g.136866657A>T | CA365762890 | PEX7 | c.557A>T (p.Lys186Met) c.245A>T c.443A>T (p.Lys148Met) c.562A>T (n.562A>T) c.437A>T (p.Lys146Met) c.340-3233A>T (n.340-3233A>T) c.526+20476A>T (n.526+20476A>T) | |
6 | g.136866658G>A | CA4017659 | PEX7 | c.558G>A (p.Lys186=) c.246G>A c.444G>A (p.Lys148=) c.563G>A (n.563G>A) c.438G>A (p.Lys146=) c.340-3232G>A (n.340-3232G>A) c.526+20477G>A (n.526+20477G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.136866658G>C | CA365762894 | PEX7 | c.558G>C (p.Lys186Asn) c.246G>C c.444G>C (p.Lys148Asn) c.563G>C (n.563G>C) c.438G>C (p.Lys146Asn) c.340-3232G>C (n.340-3232G>C) c.526+20477G>C (n.526+20477G>C) | |
6 | g.136866658G>T | CA365762896 | PEX7 | c.558G>T (p.Lys186Asn) c.246G>T c.444G>T (p.Lys148Asn) c.563G>T (n.563G>T) c.438G>T (p.Lys146Asn) c.340-3232G>T (n.340-3232G>T) c.526+20477G>T (n.526+20477G>T) | COSMIC |