Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.136869992_136870020delCA16041018PEX7c.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
6g.136869994delCA452227926PEX7c.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)
6g.136869994G>ACA452227927PEX7c.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)
6g.136869994G>CCA365764141PEX7c.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)
6g.136869994G>TCA365764142PEX7c.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)
6g.136869995A>CCA452227928PEX7c.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
6g.136869995A>GCA365764143PEX7c.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
6g.136869995A>TCA365764144PEX7c.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)
6g.136869996G>ACA148200975PEX7c.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
6g.136869996G>CCA365764145PEX7c.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)
6g.136869996G>TCA365764146PEX7c.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
6g.136869997G>ACA4017706PEX7c.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
6g.136869997G>CCA365764147PEX7c.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)
6g.136869997G>TCA365764148PEX7c.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
6g.136869998G>ACA365764149PEX7c.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)
6g.136869998G>CCA365764150PEX7c.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)
6g.136869998G>TCA365764151PEX7c.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)
6g.136869999T>ACA365764153PEX7c.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)
6g.136869999T>CCA365764154PEX7c.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
6g.136869999T>GCA365764152PEX7c.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)
6g.136870000G>ACA452227929PEX7c.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
6g.136870000G>CCA452227930PEX7c.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)
6g.136870000G>TCA452227931PEX7c.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)
6g.136870001A>CCA365764155PEX7c.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)
6g.136870001A>GCA365764157PEX7c.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)
6g.136870001A>TCA365764156PEX7c.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)
6g.136870003delCA2695198357PEX7c.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
6g.136870002_136870003delCA2773214084PEX7c.746_747del (p.Lys249IlefsTer15)
c.746_747del (p.Lys249AsnfsTer?)
c.434_435del
c.632_633del (p.Lys211IlefsTer15)
c.751_752del (n.751_752del)
c.626_627del (p.Lys209IlefsTer15)
c.452_453del (p.Lys151IlefsTer15)
c.526+23821_526+23822del (n.526+23821_526+23822del)
6g.136870002A>CCA365764158PEX7c.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)
6g.136870002A>GCA365764159PEX7c.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)
6g.136870002A>TCA365764160PEX7c.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)
6g.136870003A>CCA365764161PEX7c.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)
6g.136870003A>GCA452227932PEX7c.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
6g.136870003A>TCA365764162PEX7c.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)
6g.136870004G>ACA148200986PEX7c.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
6g.136870004G>CCA365764163PEX7c.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)
6g.136870004G>TCA365764164PEX7c.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)
6g.136870004_136870005insACCA2773214085PEX7c.747+1_747+2insAC (n.747+1_747+2insAC)
c.435+1_435+2insAC
c.633+1_633+2insAC (n.633+1_633+2insAC)
c.752+1_752+2insAC (n.752+1_752+2insAC)
c.627+1_627+2insAC (n.627+1_627+2insAC)
c.453+1_453+2insAC (n.453+1_453+2insAC)
c.526+23823_526+23824insAC (n.526+23823_526+23824insAC)
6g.136870005T>ACA365764165PEX7c.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
6g.136870005T>CCA365764166PEX7c.747+2T>C (n.747+2T>C)
c.435+2T>C
c.633+2T>C (n.633+2T>C)
c.752+2T>C (n.752+2T>C)
c.627+2T>C (n.627+2T>C)
c.453+2T>C (n.453+2T>C)
c.526+23824T>C (n.526+23824T>C)
6g.136870005T>GCA365764167PEX7c.747+2T>G (n.747+2T>G)
c.435+2T>G
c.633+2T>G (n.633+2T>G)
c.752+2T>G (n.752+2T>G)
c.627+2T>G (n.627+2T>G)
c.453+2T>G (n.453+2T>G)
c.526+23824T>G (n.526+23824T>G)
6g.136870006A>CCA2680489957PEX7c.747+3A>C (n.747+3A>C)
c.435+3A>C
c.633+3A>C (n.633+3A>C)
c.752+3A>C (n.752+3A>C)
c.627+3A>C (n.627+3A>C)
c.453+3A>C (n.453+3A>C)
c.526+23825A>C (n.526+23825A>C)
 gnomAD v4
6g.136870007_136870008delCA2578751802PEX7c.747+4_747+5del (n.747+4_747+5del)
c.435+4_435+5del
c.633+4_633+5del (n.633+4_633+5del)
c.752+4_752+5del (n.752+4_752+5del)
c.627+4_627+5del (n.627+4_627+5del)
c.453+4_453+5del (n.453+4_453+5del)
c.526+23826_526+23827del (n.526+23826_526+23827del)
6g.136870008G>ACA2573140584PEX7c.747+5G>A (n.747+5G>A)
c.435+5G>A
c.633+5G>A (n.633+5G>A)
c.752+5G>A (n.752+5G>A)
c.627+5G>A (n.627+5G>A)
c.453+5G>A (n.453+5G>A)
c.526+23827G>A (n.526+23827G>A)
 ClinVar dbSNP gnomAD v4
6g.136870008_136870011delCA2773214087PEX7c.747+5_747+8del (n.747+5_747+8del)
c.435+5_435+8del
c.633+5_633+8del (n.633+5_633+8del)
c.752+5_752+8del (n.752+5_752+8del)
c.627+5_627+8del (n.627+5_627+8del)
c.453+5_453+8del (n.453+5_453+8del)
c.526+23827_526+23830del (n.526+23827_526+23830del)
6g.136870009T>CCA2578751803PEX7c.747+6T>C (n.747+6T>C)
c.435+6T>C
c.633+6T>C (n.633+6T>C)
c.752+6T>C (n.752+6T>C)
c.627+6T>C (n.627+6T>C)
c.453+6T>C (n.453+6T>C)
c.526+23828T>C (n.526+23828T>C)
 gnomAD v4
6g.136870010_136870012delCA2773214089PEX7c.747+7_747+9del (n.747+7_747+9del)
c.435+7_435+9del
c.633+7_633+9del (n.633+7_633+9del)
c.752+7_752+9del (n.752+7_752+9del)
c.627+7_627+9del (n.627+7_627+9del)
c.453+7_453+9del (n.453+7_453+9del)
c.526+23829_526+23831del (n.526+23829_526+23831del)
6g.136870010T>CCA2578751804PEX7c.747+7T>C (n.747+7T>C)
c.435+7T>C
c.633+7T>C (n.633+7T>C)
c.752+7T>C (n.752+7T>C)
c.627+7T>C (n.627+7T>C)
c.453+7T>C (n.453+7T>C)
c.526+23829T>C (n.526+23829T>C)
 dbSNP gnomAD v4
6g.136870011_136870012insACCA2773214091PEX7c.747+8_747+9insAC (n.747+8_747+9insAC)
c.435+8_435+9insAC
c.633+8_633+9insAC (n.633+8_633+9insAC)
c.752+8_752+9insAC (n.752+8_752+9insAC)
c.627+8_627+9insAC (n.627+8_627+9insAC)
c.453+8_453+9insAC (n.453+8_453+9insAC)
c.526+23830_526+23831insAC (n.526+23830_526+23831insAC)
6g.136870012T>ACA2773214090PEX7c.747+9T>A (n.747+9T>A)
c.435+9T>A
c.633+9T>A (n.633+9T>A)
c.752+9T>A (n.752+9T>A)
c.627+9T>A (n.627+9T>A)
c.453+9T>A (n.453+9T>A)
c.526+23831T>A (n.526+23831T>A)

Number of alleles fetched