| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136869990T>A | CA365764133 | PEX7 | c.734T>A (p.Ile245Asn) c.422T>A c.620T>A (p.Ile207Asn) c.739T>A (n.739T>A) c.614T>A (p.Ile205Asn) c.440T>A (p.Ile147Asn) c.526+23809T>A (n.526+23809T>A) | |
| 6 | g.136869990T>C | CA365764134 | PEX7 | c.734T>C (p.Ile245Thr) c.422T>C c.620T>C (p.Ile207Thr) c.739T>C (n.739T>C) c.614T>C (p.Ile205Thr) c.440T>C (p.Ile147Thr) c.526+23809T>C (n.526+23809T>C) | |
| 6 | g.136869990T>G | CA365764135 | PEX7 | c.734T>G (p.Ile245Ser) c.422T>G c.620T>G (p.Ile207Ser) c.739T>G (n.739T>G) c.614T>G (p.Ile205Ser) c.440T>G (p.Ile147Ser) c.526+23809T>G (n.526+23809T>G) | |
| 6 | g.136869991dup | CA915944390 | PEX7 | c.735dup (p.Arg246Ter) c.423dup c.621dup (p.Arg208Ter) c.740dup (n.740dup) c.615dup (p.Arg206Ter) c.441dup (p.Arg148Ter) c.526+23810dup (n.526+23810dup) | ClinVar dbSNP |
| 6 | g.136869992_136870020del | CA16041018 | PEX7 | c.736_747+17del c.424_435+17del c.622_633+17del c.741_752+17del c.616_627+17del c.442_453+17del c.526+23811_526+23839del (n.526+23811_526+23839del) | ClinVar dbSNP |
| 6 | g.136869991T>A | CA452227923 | PEX7 | c.735T>A (p.Ile245=) c.423T>A c.621T>A (p.Ile207=) c.740T>A (n.740T>A) c.615T>A (p.Ile205=) c.441T>A (p.Ile147=) c.526+23810T>A (n.526+23810T>A) | |
| 6 | g.136869991T>C | CA452227924 | PEX7 | c.735T>C (p.Ile245=) c.423T>C c.621T>C (p.Ile207=) c.740T>C (n.740T>C) c.615T>C (p.Ile205=) c.441T>C (p.Ile147=) c.526+23810T>C (n.526+23810T>C) | |
| 6 | g.136869991T>G | CA365764136 | PEX7 | c.735T>G (p.Ile245Met) c.423T>G c.621T>G (p.Ile207Met) c.740T>G (n.740T>G) c.615T>G (p.Ile205Met) c.441T>G (p.Ile147Met) c.526+23810T>G (n.526+23810T>G) | |
| 6 | g.136869992A>C | CA452227925 | PEX7 | c.736A>C (p.Arg246=) c.424A>C c.622A>C (p.Arg208=) c.741A>C (n.741A>C) c.616A>C (p.Arg206=) c.442A>C (p.Arg148=) c.526+23811A>C (n.526+23811A>C) | |
| 6 | g.136869992A>G | CA365764137 | PEX7 | c.736A>G (p.Arg246Gly) c.424A>G c.622A>G (p.Arg208Gly) c.741A>G (n.741A>G) c.616A>G (p.Arg206Gly) c.442A>G (p.Arg148Gly) c.526+23811A>G (n.526+23811A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136869992A>T | CA365764138 | PEX7 | c.736A>T (p.Arg246Trp) c.424A>T c.622A>T (p.Arg208Trp) c.741A>T (n.741A>T) c.616A>T (p.Arg206Trp) c.442A>T (p.Arg148Trp) c.526+23811A>T (n.526+23811A>T) | |
| 6 | g.136869993G>A | CA4017705 | PEX7 | c.737G>A (p.Arg246Lys) c.425G>A c.623G>A (p.Arg208Lys) c.742G>A (n.742G>A) c.617G>A (p.Arg206Lys) c.443G>A (p.Arg148Lys) c.526+23812G>A (n.526+23812G>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.136869993G>C | CA365764140 | PEX7 | c.737G>C (p.Arg246Thr) c.425G>C c.623G>C (p.Arg208Thr) c.742G>C (n.742G>C) c.617G>C (p.Arg206Thr) c.443G>C (p.Arg148Thr) c.526+23812G>C (n.526+23812G>C) | |
| 6 | g.136869993G>T | CA365764139 | PEX7 | c.737G>T (p.Arg246Met) c.425G>T c.623G>T (p.Arg208Met) c.742G>T (n.742G>T) c.617G>T (p.Arg206Met) c.443G>T (p.Arg148Met) c.526+23812G>T (n.526+23812G>T) | ClinVar dbSNP |
| 6 | g.136869994del | CA452227926 | PEX7 | c.738del (p.Arg247GlyfsTer2) c.426del c.624del (p.Arg209GlyfsTer2) c.743del (n.743del) c.618del (p.Arg207GlyfsTer2) c.444del (p.Arg149GlyfsTer2) c.526+23813del (n.526+23813del) | |
| 6 | g.136869994G>A | CA452227927 | PEX7 | c.738G>A (p.Arg246=) c.426G>A c.624G>A (p.Arg208=) c.743G>A (n.743G>A) c.618G>A (p.Arg206=) c.444G>A (p.Arg148=) c.526+23813G>A (n.526+23813G>A) | |
| 6 | g.136869994G>C | CA365764141 | PEX7 | c.738G>C (p.Arg246Ser) c.426G>C c.624G>C (p.Arg208Ser) c.743G>C (n.743G>C) c.618G>C (p.Arg206Ser) c.444G>C (p.Arg148Ser) c.526+23813G>C (n.526+23813G>C) | |
| 6 | g.136869994G>T | CA365764142 | PEX7 | c.738G>T (p.Arg246Ser) c.426G>T c.624G>T (p.Arg208Ser) c.743G>T (n.743G>T) c.618G>T (p.Arg206Ser) c.444G>T (p.Arg148Ser) c.526+23813G>T (n.526+23813G>T) | |
| 6 | g.136869995A>C | CA452227928 | PEX7 | c.739A>C (p.Arg247=) c.427A>C c.625A>C (p.Arg209=) c.744A>C (n.744A>C) c.619A>C (p.Arg207=) c.445A>C (p.Arg149=) c.526+23814A>C (n.526+23814A>C) | ClinVar dbSNP |
| 6 | g.136869995A>G | CA365764143 | PEX7 | c.739A>G (p.Arg247Gly) c.427A>G c.625A>G (p.Arg209Gly) c.744A>G (n.744A>G) c.619A>G (p.Arg207Gly) c.445A>G (p.Arg149Gly) c.526+23814A>G (n.526+23814A>G) | gnomAD v4 |
| 6 | g.136869995A>T | CA365764144 | PEX7 | c.739A>T (p.Arg247Trp) c.427A>T c.625A>T (p.Arg209Trp) c.744A>T (n.744A>T) c.619A>T (p.Arg207Trp) c.445A>T (p.Arg149Trp) c.526+23814A>T (n.526+23814A>T) | |
| 6 | g.136869996G>A | CA148200975 | PEX7 | c.740G>A (p.Arg247Lys) c.428G>A c.626G>A (p.Arg209Lys) c.745G>A (n.745G>A) c.620G>A (p.Arg207Lys) c.446G>A (p.Arg149Lys) c.526+23815G>A (n.526+23815G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136869996G>C | CA365764145 | PEX7 | c.740G>C (p.Arg247Thr) c.428G>C c.626G>C (p.Arg209Thr) c.745G>C (n.745G>C) c.620G>C (p.Arg207Thr) c.446G>C (p.Arg149Thr) c.526+23815G>C (n.526+23815G>C) | |
| 6 | g.136869996G>T | CA365764146 | PEX7 | c.740G>T (p.Arg247Met) c.428G>T c.626G>T (p.Arg209Met) c.745G>T (n.745G>T) c.620G>T (p.Arg207Met) c.446G>T (p.Arg149Met) c.526+23815G>T (n.526+23815G>T) | gnomAD v4 |
| 6 | g.136869997G>A | CA4017706 | PEX7 | c.741G>A (p.Arg247=) c.429G>A c.627G>A (p.Arg209=) c.746G>A (n.746G>A) c.621G>A (p.Arg207=) c.447G>A (p.Arg149=) c.526+23816G>A (n.526+23816G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136869997G>C | CA365764147 | PEX7 | c.741G>C (p.Arg247Ser) c.429G>C c.627G>C (p.Arg209Ser) c.746G>C (n.746G>C) c.621G>C (p.Arg207Ser) c.447G>C (p.Arg149Ser) c.526+23816G>C (n.526+23816G>C) | |
| 6 | g.136869997G>T | CA365764148 | PEX7 | c.741G>T (p.Arg247Ser) c.429G>T c.627G>T (p.Arg209Ser) c.746G>T (n.746G>T) c.621G>T (p.Arg207Ser) c.447G>T (p.Arg149Ser) c.526+23816G>T (n.526+23816G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136869998G>A | CA365764149 | PEX7 | c.742G>A (p.Val248Met) c.430G>A c.628G>A (p.Val210Met) c.747G>A (n.747G>A) c.622G>A (p.Val208Met) c.448G>A (p.Val150Met) c.526+23817G>A (n.526+23817G>A) | |
| 6 | g.136869998G>C | CA365764150 | PEX7 | c.742G>C (p.Val248Leu) c.430G>C c.628G>C (p.Val210Leu) c.747G>C (n.747G>C) c.622G>C (p.Val208Leu) c.448G>C (p.Val150Leu) c.526+23817G>C (n.526+23817G>C) | |
| 6 | g.136869998G>T | CA365764151 | PEX7 | c.742G>T (p.Val248Leu) c.430G>T c.628G>T (p.Val210Leu) c.747G>T (n.747G>T) c.622G>T (p.Val208Leu) c.448G>T (p.Val150Leu) c.526+23817G>T (n.526+23817G>T) | |
| 6 | g.136869999T>A | CA365764153 | PEX7 | c.743T>A (p.Val248Glu) c.431T>A c.629T>A (p.Val210Glu) c.748T>A (n.748T>A) c.623T>A (p.Val208Glu) c.449T>A (p.Val150Glu) c.526+23818T>A (n.526+23818T>A) | |
| 6 | g.136869999T>C | CA365764154 | PEX7 | c.743T>C (p.Val248Ala) c.431T>C c.629T>C (p.Val210Ala) c.748T>C (n.748T>C) c.623T>C (p.Val208Ala) c.449T>C (p.Val150Ala) c.526+23818T>C (n.526+23818T>C) | gnomAD v4 |
| 6 | g.136869999T>G | CA365764152 | PEX7 | c.743T>G (p.Val248Gly) c.431T>G c.629T>G (p.Val210Gly) c.748T>G (n.748T>G) c.623T>G (p.Val208Gly) c.449T>G (p.Val150Gly) c.526+23818T>G (n.526+23818T>G) | |
| 6 | g.136870000G>A | CA452227929 | PEX7 | c.744G>A (p.Val248=) c.432G>A c.630G>A (p.Val210=) c.749G>A (n.749G>A) c.624G>A (p.Val208=) c.450G>A (p.Val150=) c.526+23819G>A (n.526+23819G>A) | gnomAD v4 |
| 6 | g.136870000G>C | CA452227930 | PEX7 | c.744G>C (p.Val248=) c.432G>C c.630G>C (p.Val210=) c.749G>C (n.749G>C) c.624G>C (p.Val208=) c.450G>C (p.Val150=) c.526+23819G>C (n.526+23819G>C) | |
| 6 | g.136870000G>T | CA452227931 | PEX7 | c.744G>T (p.Val248=) c.432G>T c.630G>T (p.Val210=) c.749G>T (n.749G>T) c.624G>T (p.Val208=) c.450G>T (p.Val150=) c.526+23819G>T (n.526+23819G>T) | |
| 6 | g.136870001A>C | CA365764155 | PEX7 | c.745A>C (p.Lys249Gln) c.433A>C c.631A>C (p.Lys211Gln) c.750A>C (n.750A>C) c.625A>C (p.Lys209Gln) c.451A>C (p.Lys151Gln) c.526+23820A>C (n.526+23820A>C) | |
| 6 | g.136870001A>G | CA365764157 | PEX7 | c.745A>G (p.Lys249Glu) c.433A>G c.631A>G (p.Lys211Glu) c.750A>G (n.750A>G) c.625A>G (p.Lys209Glu) c.451A>G (p.Lys151Glu) c.526+23820A>G (n.526+23820A>G) | |
| 6 | g.136870001A>T | CA365764156 | PEX7 | c.745A>T (p.Lys249Ter) c.433A>T c.631A>T (p.Lys211Ter) c.750A>T (n.750A>T) c.625A>T (p.Lys209Ter) c.451A>T (p.Lys151Ter) c.526+23820A>T (n.526+23820A>T) | |
| 6 | g.136870003del | CA2695198357 | PEX7 | c.747del (p.Lys249AsnfsTer19) c.747del (p.Met250TrpfsTer?) c.435del c.633del (p.Lys211AsnfsTer19) c.752del (n.752del) c.627del (p.Lys209AsnfsTer19) c.453del (p.Lys151AsnfsTer19) c.526+23822del (n.526+23822del) | ClinVar |
| 6 | g.136870002A>C | CA365764158 | PEX7 | c.746A>C (p.Lys249Thr) c.434A>C c.632A>C (p.Lys211Thr) c.751A>C (n.751A>C) c.626A>C (p.Lys209Thr) c.452A>C (p.Lys151Thr) c.526+23821A>C (n.526+23821A>C) | |
| 6 | g.136870002A>G | CA365764159 | PEX7 | c.746A>G (p.Lys249Arg) c.434A>G c.632A>G (p.Lys211Arg) c.751A>G (n.751A>G) c.626A>G (p.Lys209Arg) c.452A>G (p.Lys151Arg) c.526+23821A>G (n.526+23821A>G) | |
| 6 | g.136870002A>T | CA365764160 | PEX7 | c.746A>T (p.Lys249Ile) c.434A>T c.632A>T (p.Lys211Ile) c.751A>T (n.751A>T) c.626A>T (p.Lys209Ile) c.452A>T (p.Lys151Ile) c.526+23821A>T (n.526+23821A>T) | |
| 6 | g.136870003A>C | CA365764161 | PEX7 | c.747A>C (p.Lys249Asn) c.435A>C c.633A>C (p.Lys211Asn) c.752A>C (n.752A>C) c.627A>C (p.Lys209Asn) c.453A>C (p.Lys151Asn) c.526+23822A>C (n.526+23822A>C) | |
| 6 | g.136870003A>G | CA452227932 | PEX7 | c.747A>G (p.Lys249=) c.435A>G c.633A>G (p.Lys211=) c.752A>G (n.752A>G) c.627A>G (p.Lys209=) c.453A>G (p.Lys151=) c.526+23822A>G (n.526+23822A>G) | gnomAD v4 |
| 6 | g.136870003A>T | CA365764162 | PEX7 | c.747A>T (p.Lys249Asn) c.435A>T c.633A>T (p.Lys211Asn) c.752A>T (n.752A>T) c.627A>T (p.Lys209Asn) c.453A>T (p.Lys151Asn) c.526+23822A>T (n.526+23822A>T) | |
| 6 | g.136870004G>A | CA148200986 | PEX7 | c.747+1G>A (n.747+1G>A) c.435+1G>A c.633+1G>A (n.633+1G>A) c.752+1G>A (n.752+1G>A) c.627+1G>A (n.627+1G>A) c.453+1G>A (n.453+1G>A) c.526+23823G>A (n.526+23823G>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136870004G>C | CA365764163 | PEX7 | c.747+1G>C (n.747+1G>C) c.435+1G>C c.633+1G>C (n.633+1G>C) c.752+1G>C (n.752+1G>C) c.627+1G>C (n.627+1G>C) c.453+1G>C (n.453+1G>C) c.526+23823G>C (n.526+23823G>C) | |
| 6 | g.136870004G>T | CA365764164 | PEX7 | c.747+1G>T (n.747+1G>T) c.435+1G>T c.633+1G>T (n.633+1G>T) c.752+1G>T (n.752+1G>T) c.627+1G>T (n.627+1G>T) c.453+1G>T (n.453+1G>T) c.526+23823G>T (n.526+23823G>T) | |
| 6 | g.136870005T>A | CA365764165 | PEX7 | c.747+2T>A (n.747+2T>A) c.435+2T>A c.633+2T>A (n.633+2T>A) c.752+2T>A (n.752+2T>A) c.627+2T>A (n.627+2T>A) c.453+2T>A (n.453+2T>A) c.526+23824T>A (n.526+23824T>A) | ClinVar gnomAD v4 |