Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.136826352T>A | CA452376445 | PEX7 | c.222T>A (p.Thr74=) c.97T>A c.108T>A (p.Thr36=) c.227T>A (n.227T>A) c.102T>A (p.Thr34=) | |
6 | g.136826352T>C | CA452376446 | PEX7 | c.222T>C (p.Thr74=) c.97T>C c.108T>C (p.Thr36=) c.227T>C (n.227T>C) c.102T>C (p.Thr34=) | |
6 | g.136826352T>G | CA452376448 | PEX7 | c.222T>G (p.Thr74=) c.97T>G c.108T>G (p.Thr36=) c.227T>G (n.227T>G) c.102T>G (p.Thr34=) | gnomAD v4 |
6 | g.136826353T>A | CA365855787 | PEX7 | c.223T>A (p.Trp75Arg) c.98T>A c.109T>A (p.Trp37Arg) c.228T>A (n.228T>A) c.103T>A (p.Trp35Arg) | |
6 | g.136826353T>C | CA365855788 | PEX7 | c.223T>C (p.Trp75Arg) c.98T>C c.109T>C (p.Trp37Arg) c.228T>C (n.228T>C) c.103T>C (p.Trp35Arg) | |
6 | g.136826353T>G | CA365855786 | PEX7 | c.223T>G (p.Trp75Gly) c.98T>G c.109T>G (p.Trp37Gly) c.228T>G (n.228T>G) c.103T>G (p.Trp35Gly) | |
6 | g.136826354G>A | CA365855789 | PEX7 | c.224G>A (p.Trp75Ter) c.99G>A c.110G>A (p.Trp37Ter) c.229G>A (n.229G>A) c.104G>A (p.Trp35Ter) | ClinVar |
6 | g.136826354G>C | CA365855790 | PEX7 | c.224G>C (p.Trp75Ser) c.99G>C c.110G>C (p.Trp37Ser) c.229G>C (n.229G>C) c.104G>C (p.Trp35Ser) | |
6 | g.136826354G>T | CA365855791 | PEX7 | c.224G>T (p.Trp75Leu) c.99G>T c.110G>T (p.Trp37Leu) c.229G>T (n.229G>T) c.104G>T (p.Trp35Leu) | |
6 | g.136826355G>A | CA365855792 | PEX7 | c.225G>A (p.Trp75Ter) c.100G>A c.111G>A (p.Trp37Ter) c.230G>A (n.230G>A) c.105G>A (p.Trp35Ter) | |
6 | g.136826355G>C | CA365855793 | PEX7 | c.225G>C (p.Trp75Cys) c.100G>C c.111G>C (p.Trp37Cys) c.230G>C (n.230G>C) c.105G>C (p.Trp35Cys) | ClinVar dbSNP gnomAD v4 |
6 | g.136826355G>T | CA365855794 | PEX7 | c.225G>T (p.Trp75Cys) c.100G>T c.111G>T (p.Trp37Cys) c.230G>T (n.230G>T) c.105G>T (p.Trp35Cys) | |
6 | g.136826356A>C | CA365855797 | PEX7 | c.226A>C (p.Ser76Arg) c.101A>C c.112A>C (p.Ser38Arg) c.231A>C (n.231A>C) c.106A>C (p.Ser36Arg) | |
6 | g.136826356A>G | CA365855795 | PEX7 | c.226A>G (p.Ser76Gly) c.101A>G c.112A>G (p.Ser38Gly) c.231A>G (n.231A>G) c.106A>G (p.Ser36Gly) | |
6 | g.136826356A>T | CA365855796 | PEX7 | c.226A>T (p.Ser76Cys) c.101A>T c.112A>T (p.Ser38Cys) c.231A>T (n.231A>T) c.106A>T (p.Ser36Cys) | |
6 | g.136826357G>A | CA365855798 | PEX7 | c.227G>A (p.Ser76Asn) c.102G>A c.113G>A (p.Ser38Asn) c.232G>A (n.232G>A) c.107G>A (p.Ser36Asn) | |
6 | g.136826357G>C | CA365855799 | PEX7 | c.227G>C (p.Ser76Thr) c.102G>C c.113G>C (p.Ser38Thr) c.232G>C (n.232G>C) c.107G>C (p.Ser36Thr) | |
6 | g.136826357G>T | CA365855800 | PEX7 | c.227G>T (p.Ser76Ile) c.102G>T c.113G>T (p.Ser38Ile) c.232G>T (n.232G>T) c.107G>T (p.Ser36Ile) | |
6 | g.136826358T>A | CA365855801 | PEX7 | c.228T>A (p.Ser76Arg) c.103T>A c.114T>A (p.Ser38Arg) c.233T>A (n.233T>A) c.108T>A (p.Ser36Arg) | |
6 | g.136826358T>C | CA452376481 | PEX7 | c.228T>C (p.Ser76=) c.103T>C c.114T>C (p.Ser38=) c.233T>C (n.233T>C) c.108T>C (p.Ser36=) | |
6 | g.136826358T>G | CA365855802 | PEX7 | c.228T>G (p.Ser76Arg) c.103T>G c.114T>G (p.Ser38Arg) c.233T>G (n.233T>G) c.108T>G (p.Ser36Arg) | |
6 | g.136826359G>A | CA365855803 | PEX7 | c.229G>A (p.Glu77Lys) c.104G>A c.115G>A (p.Glu39Lys) c.234G>A (n.234G>A) c.109G>A (p.Glu37Lys) | |
6 | g.136826359G>C | CA365855805 | PEX7 | c.229G>C (p.Glu77Gln) c.104G>C c.115G>C (p.Glu39Gln) c.234G>C (n.234G>C) c.109G>C (p.Glu37Gln) | |
6 | g.136826359G>T | CA365855804 | PEX7 | c.229G>T (p.Glu77Ter) c.104G>T c.115G>T (p.Glu39Ter) c.234G>T (n.234G>T) c.109G>T (p.Glu37Ter) | |
6 | g.136826360A>C | CA365855806 | PEX7 | c.230A>C (p.Glu77Ala) c.105A>C c.116A>C (p.Glu39Ala) c.235A>C (n.235A>C) c.110A>C (p.Glu37Ala) | |
6 | g.136826360A>G | CA365855807 | PEX7 | c.230A>G (p.Glu77Gly) c.105A>G c.116A>G (p.Glu39Gly) c.235A>G (n.235A>G) c.110A>G (p.Glu37Gly) | gnomAD v4 |
6 | g.136826360A>T | CA4017530 | PEX7 | c.230A>T (p.Glu77Val) c.105A>T c.116A>T (p.Glu39Val) c.235A>T (n.235A>T) c.110A>T (p.Glu37Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.136826361G>A | CA452376494 | PEX7 | c.231G>A (p.Glu77=) c.106G>A c.117G>A (p.Glu39=) c.236G>A (n.236G>A) c.111G>A (p.Glu37=) | |
6 | g.136826361G>C | CA365855808 | PEX7 | c.231G>C (p.Glu77Asp) c.106G>C c.117G>C (p.Glu39Asp) c.236G>C (n.236G>C) c.111G>C (p.Glu37Asp) | |
6 | g.136826361G>T | CA365855809 | PEX7 | c.231G>T (p.Glu77Asp) c.106G>T c.117G>T (p.Glu39Asp) c.236G>T (n.236G>T) c.111G>T (p.Glu37Asp) | |
6 | g.136826362A>C | CA365855810 | PEX7 | c.232A>C (p.Asn78His) c.107A>C c.118A>C (p.Asn40His) c.237A>C (n.237A>C) c.112A>C (p.Asn38His) | |
6 | g.136826362A>G | CA365855811 | PEX7 | c.232A>G (p.Asn78Asp) c.107A>G c.118A>G (p.Asn40Asp) c.237A>G (n.237A>G) c.112A>G (p.Asn38Asp) | |
6 | g.136826362A>T | CA365855812 | PEX7 | c.232A>T (p.Asn78Tyr) c.107A>T c.118A>T (p.Asn40Tyr) c.237A>T (n.237A>T) c.112A>T (p.Asn38Tyr) | gnomAD v4 |
6 | g.136826363del | CA915944386 | PEX7 | c.233del (p.Asn78ThrfsTer?) c.108del c.119del (p.Asn40ThrfsTer?) c.238del (n.238del) c.113del (p.Asn38ThrfsTer?) | ClinVar dbSNP |
6 | g.136826363A>C | CA365855813 | PEX7 | c.233A>C (p.Asn78Thr) c.108A>C c.119A>C (p.Asn40Thr) c.238A>C (n.238A>C) c.113A>C (p.Asn38Thr) | |
6 | g.136826363A>G | CA4017531 | PEX7 | c.233A>G (p.Asn78Ser) c.108A>G c.119A>G (p.Asn40Ser) c.238A>G (n.238A>G) c.113A>G (p.Asn38Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.136826363A>T | CA365855814 | PEX7 | c.233A>T (p.Asn78Ile) c.108A>T c.119A>T (p.Asn40Ile) c.238A>T (n.238A>T) c.113A>T (p.Asn38Ile) | |
6 | g.136826364del | CA2713378704 | PEX7 | c.234del (p.Asn78LysfsTer?) c.109del c.120del (p.Asn40LysfsTer?) c.239del (n.239del) c.114del (p.Asn38LysfsTer?) | dbSNP |
6 | g.136826364C>A | CA4017532 | PEX7 | c.234C>A (p.Asn78Lys) c.109C>A c.120C>A (p.Asn40Lys) c.239C>A (n.239C>A) c.114C>A (p.Asn38Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826364C>G | CA365855815 | PEX7 | c.234C>G (p.Asn78Lys) c.109C>G c.120C>G (p.Asn40Lys) c.239C>G (n.239C>G) c.114C>G (p.Asn38Lys) | |
6 | g.136826364C>T | CA452376518 | PEX7 | c.234C>T (p.Asn78=) c.109C>T c.120C>T (p.Asn40=) c.239C>T (n.239C>T) c.114C>T (p.Asn38=) | |
6 | g.136826365A>C | CA365855816 | PEX7 | c.235A>C (p.Asn79His) c.110A>C c.121A>C (p.Asn41His) c.240A>C (n.240A>C) c.115A>C (p.Asn39His) | |
6 | g.136826365A>G | CA365855818 | PEX7 | c.235A>G (p.Asn79Asp) c.110A>G c.121A>G (p.Asn41Asp) c.240A>G (n.240A>G) c.115A>G (p.Asn39Asp) | |
6 | g.136826365A>T | CA365855817 | PEX7 | c.235A>T (p.Asn79Tyr) c.110A>T c.121A>T (p.Asn41Tyr) c.240A>T (n.240A>T) c.115A>T (p.Asn39Tyr) | |
6 | g.136826366A>C | CA365855819 | PEX7 | c.236A>C (p.Asn79Thr) c.111A>C c.122A>C (p.Asn41Thr) c.241A>C (n.241A>C) c.116A>C (p.Asn39Thr) | |
6 | g.136826366A>G | CA365855821 | PEX7 | c.236A>G (p.Asn79Ser) c.111A>G c.122A>G (p.Asn41Ser) c.241A>G (n.241A>G) c.116A>G (p.Asn39Ser) | ClinVar dbSNP |
6 | g.136826366A>T | CA365855820 | PEX7 | c.236A>T (p.Asn79Ile) c.111A>T c.122A>T (p.Asn41Ile) c.241A>T (n.241A>T) c.116A>T (p.Asn39Ile) | |
6 | g.136826367C>A | CA365855822 | PEX7 | c.237C>A (p.Asn79Lys) c.112C>A c.123C>A (p.Asn41Lys) c.242C>A (n.242C>A) c.117C>A (p.Asn39Lys) | |
6 | g.136826367C>G | CA365855823 | PEX7 | c.237C>G (p.Asn79Lys) c.112C>G c.123C>G (p.Asn41Lys) c.242C>G (n.242C>G) c.117C>G (p.Asn39Lys) | |
6 | g.136826367C>T | CA4017533 | PEX7 | c.237C>T (p.Asn79=) c.112C>T c.123C>T (p.Asn41=) c.242C>T (n.242C>T) c.117C>T (p.Asn39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826368G>A | CA4017534 | PEX7 | c.238G>A (p.Glu80Lys) c.113G>A c.124G>A (p.Glu42Lys) c.243G>A (n.243G>A) c.118G>A (p.Glu40Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826368G>C | CA365855824 | PEX7 | c.238G>C (p.Glu80Gln) c.113G>C c.124G>C (p.Glu42Gln) c.243G>C (n.243G>C) c.118G>C (p.Glu40Gln) | |
6 | g.136826368G>T | CA365855825 | PEX7 | c.238G>T (p.Glu80Ter) c.113G>T c.124G>T (p.Glu42Ter) c.243G>T (n.243G>T) c.118G>T (p.Glu40Ter) | |
6 | g.136826369A>C | CA365855826 | PEX7 | c.239A>C (p.Glu80Ala) c.114A>C c.125A>C (p.Glu42Ala) c.244A>C (n.244A>C) c.119A>C (p.Glu40Ala) | |
6 | g.136826369A>G | CA365855827 | PEX7 | c.239A>G (p.Glu80Gly) c.114A>G c.125A>G (p.Glu42Gly) c.244A>G (n.244A>G) c.119A>G (p.Glu40Gly) | |
6 | g.136826369A>T | CA365855828 | PEX7 | c.239A>T (p.Glu80Val) c.114A>T c.125A>T (p.Glu42Val) c.244A>T (n.244A>T) c.119A>T (p.Glu40Val) | |
6 | g.136826370A>C | CA365855829 | PEX7 | c.240A>C (p.Glu80Asp) c.115A>C c.126A>C (p.Glu42Asp) c.245A>C (n.245A>C) c.120A>C (p.Glu40Asp) | |
6 | g.136826370A>G | CA4017535 | PEX7 | c.240A>G (p.Glu80=) c.115A>G c.126A>G (p.Glu42=) c.245A>G (n.245A>G) c.120A>G (p.Glu40=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.136826370A>T | CA365855830 | PEX7 | c.240A>T (p.Glu80Asp) c.115A>T c.126A>T (p.Glu42Asp) c.245A>T (n.245A>T) c.120A>T (p.Glu40Asp) | |
6 | g.136826371C>A | CA365855831 | PEX7 | c.241C>A (p.His81Asn) c.116C>A c.127C>A (p.His43Asn) c.246C>A (n.246C>A) c.121C>A (p.His41Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826371C>G | CA148641170 | PEX7 | c.241C>G (p.His81Asp) c.116C>G c.127C>G (p.His43Asp) c.246C>G (n.246C>G) c.121C>G (p.His41Asp) | dbSNP |
6 | g.136826371C>T | CA365855832 | PEX7 | c.241C>T (p.His81Tyr) c.116C>T c.127C>T (p.His43Tyr) c.246C>T (n.246C>T) c.121C>T (p.His41Tyr) | dbSNP COSMIC COSMIC |
6 | g.136826372A>C | CA365855833 | PEX7 | c.242A>C (p.His81Pro) c.117A>C c.128A>C (p.His43Pro) c.247A>C (n.247A>C) c.122A>C (p.His41Pro) | |
6 | g.136826372A>G | CA148641171 | PEX7 | c.242A>G (p.His81Arg) c.117A>G c.128A>G (p.His43Arg) c.247A>G (n.247A>G) c.122A>G (p.His41Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826372A>T | CA365855834 | PEX7 | c.242A>T (p.His81Leu) c.117A>T c.128A>T (p.His43Leu) c.247A>T (n.247A>T) c.122A>T (p.His41Leu) | gnomAD v4 |
6 | g.136826373T>A | CA365855835 | PEX7 | c.243T>A (p.His81Gln) c.118T>A c.129T>A (p.His43Gln) c.248T>A (n.248T>A) c.123T>A (p.His41Gln) | |
6 | g.136826373T>C | CA4017536 | PEX7 | c.243T>C (p.His81=) c.118T>C c.129T>C (p.His43=) c.248T>C (n.248T>C) c.123T>C (p.His41=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826373T>G | CA365855836 | PEX7 | c.243T>G (p.His81Gln) c.118T>G c.129T>G (p.His43Gln) c.248T>G (n.248T>G) c.123T>G (p.His41Gln) | gnomAD v4 COSMIC |
6 | g.136826374G>A | CA4017537 | PEX7 | c.244G>A (p.Val82Ile) c.119G>A c.130G>A (p.Val44Ile) c.249G>A (n.249G>A) c.124G>A (p.Val42Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.136826374G>C | CA365855837 | PEX7 | c.244G>C (p.Val82Leu) c.119G>C c.130G>C (p.Val44Leu) c.249G>C (n.249G>C) c.124G>C (p.Val42Leu) | |
6 | g.136826374G>T | CA365855838 | PEX7 | c.244G>T (p.Val82Phe) c.119G>T c.130G>T (p.Val44Phe) c.249G>T (n.249G>T) c.124G>T (p.Val42Phe) | |
6 | g.136826375T>A | CA365855839 | PEX7 | c.245T>A (p.Val82Asp) c.120T>A c.131T>A (p.Val44Asp) c.250T>A (n.250T>A) c.125T>A (p.Val42Asp) | dbSNP |
6 | g.136826375T>C | CA365855840 | PEX7 | c.245T>C (p.Val82Ala) c.120T>C c.131T>C (p.Val44Ala) c.250T>C (n.250T>C) c.125T>C (p.Val42Ala) | |
6 | g.136826375T>G | CA365855841 | PEX7 | c.245T>G (p.Val82Gly) c.120T>G c.131T>G (p.Val44Gly) c.250T>G (n.250T>G) c.125T>G (p.Val42Gly) | |
6 | g.136826376C>A | CA452376590 | PEX7 | c.246C>A (p.Val82=) c.121C>A c.132C>A (p.Val44=) c.251C>A (n.251C>A) c.126C>A (p.Val42=) | |
6 | g.136826376C>G | CA452376592 | PEX7 | c.246C>G (p.Val82=) c.121C>G c.132C>G (p.Val44=) c.251C>G (n.251C>G) c.126C>G (p.Val42=) | |
6 | g.136826376C>T | CA452376588 | PEX7 | c.246C>T (p.Val82=) c.121C>T c.132C>T (p.Val44=) c.251C>T (n.251C>T) c.126C>T (p.Val42=) | ClinVar |
6 | g.136826377C>A | CA365855844 | PEX7 | c.247C>A (p.Leu83Ile) c.122C>A c.133C>A (p.Leu45Ile) c.252C>A (n.252C>A) c.127C>A (p.Leu43Ile) | |
6 | g.136826377C>G | CA365855843 | PEX7 | c.247C>G (p.Leu83Val) c.122C>G c.133C>G (p.Leu45Val) c.252C>G (n.252C>G) c.127C>G (p.Leu43Val) | |
6 | g.136826377C>T | CA365855842 | PEX7 | c.247C>T (p.Leu83Phe) c.122C>T c.133C>T (p.Leu45Phe) c.252C>T (n.252C>T) c.127C>T (p.Leu43Phe) | |
6 | g.136826378T>A | CA365855845 | PEX7 | c.248T>A (p.Leu83His) c.123T>A c.134T>A (p.Leu45His) c.253T>A (n.253T>A) c.128T>A (p.Leu43His) | |
6 | g.136826378T>C | CA365855846 | PEX7 | c.248T>C (p.Leu83Pro) c.123T>C c.134T>C (p.Leu45Pro) c.253T>C (n.253T>C) c.128T>C (p.Leu43Pro) | |
6 | g.136826378T>G | CA365855847 | PEX7 | c.248T>G (p.Leu83Arg) c.123T>G c.134T>G (p.Leu45Arg) c.253T>G (n.253T>G) c.128T>G (p.Leu43Arg) | |
6 | g.136826379C>A | CA452376622 | PEX7 | c.249C>A (p.Leu83=) c.124C>A c.135C>A (p.Leu45=) c.254C>A (n.254C>A) c.129C>A (p.Leu43=) | |
6 | g.136826379C>G | CA452376618 | PEX7 | c.249C>G (p.Leu83=) c.124C>G c.135C>G (p.Leu45=) c.254C>G (n.254C>G) c.129C>G (p.Leu43=) | |
6 | g.136826379C>T | CA452376616 | PEX7 | c.249C>T (p.Leu83=) c.124C>T c.135C>T (p.Leu45=) c.254C>T (n.254C>T) c.129C>T (p.Leu43=) | gnomAD v4 |
6 | g.136826380A>C | CA365855848 | PEX7 | c.250A>C (p.Ile84Leu) c.125A>C c.136A>C (p.Ile46Leu) c.255A>C (n.255A>C) c.130A>C (p.Ile44Leu) | |
6 | g.136826380A>G | CA365855849 | PEX7 | c.250A>G (p.Ile84Val) c.125A>G c.136A>G (p.Ile46Val) c.255A>G (n.255A>G) c.130A>G (p.Ile44Val) | dbSNP gnomAD v4 |
6 | g.136826380A>T | CA365855850 | PEX7 | c.250A>T (p.Ile84Phe) c.125A>T c.136A>T (p.Ile46Phe) c.255A>T (n.255A>T) c.130A>T (p.Ile44Phe) | |
6 | g.136826380dup | CA2580075090 | PEX7 | c.250dup (p.Ile84AsnfsTer4) c.125dup c.136dup (p.Ile46AsnfsTer4) c.255dup (n.255dup) c.130dup (p.Ile44AsnfsTer4) | ClinVar dbSNP gnomAD v4 |
6 | g.136826381T>A | CA365855851 | PEX7 | c.251T>A (p.Ile84Asn) c.126T>A c.137T>A (p.Ile46Asn) c.256T>A (n.256T>A) c.131T>A (p.Ile44Asn) | |
6 | g.136826381T>C | CA365855852 | PEX7 | c.251T>C (p.Ile84Thr) c.126T>C c.137T>C (p.Ile46Thr) c.256T>C (n.256T>C) c.131T>C (p.Ile44Thr) | |
6 | g.136826381T>G | CA365855853 | PEX7 | c.251T>G (p.Ile84Ser) c.126T>G c.137T>G (p.Ile46Ser) c.256T>G (n.256T>G) c.131T>G (p.Ile44Ser) | |
6 | g.136826382C>A | CA452376629 | PEX7 | c.252C>A (p.Ile84=) c.127C>A c.138C>A (p.Ile46=) c.257C>A (n.257C>A) c.132C>A (p.Ile44=) | |
6 | g.136826382C>G | CA365855854 | PEX7 | c.252C>G (p.Ile84Met) c.127C>G c.138C>G (p.Ile46Met) c.257C>G (n.257C>G) c.132C>G (p.Ile44Met) | |
6 | g.136826382C>T | CA4017538 | PEX7 | c.252C>T (p.Ile84=) c.127C>T c.138C>T (p.Ile46=) c.257C>T (n.257C>T) c.132C>T (p.Ile44=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.136826383A>C | CA365855856 | PEX7 | c.253A>C (p.Thr85Pro) c.128A>C c.139A>C (p.Thr47Pro) c.258A>C (n.258A>C) c.133A>C (p.Thr45Pro) | |
6 | g.136826383A>G | CA4017539 | PEX7 | c.253A>G (p.Thr85Ala) c.128A>G c.139A>G (p.Thr47Ala) c.258A>G (n.258A>G) c.133A>G (p.Thr45Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.136826383A>T | CA365855855 | PEX7 | c.253A>T (p.Thr85Ser) c.128A>T c.139A>T (p.Thr47Ser) c.258A>T (n.258A>T) c.133A>T (p.Thr45Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826384C>A | CA365855857 | PEX7 | c.254C>A (p.Thr85Asn) c.129C>A c.140C>A (p.Thr47Asn) c.259C>A (n.259C>A) c.134C>A (p.Thr45Asn) | |
6 | g.136826384C>G | CA365855858 | PEX7 | c.254C>G (p.Thr85Ser) c.129C>G c.140C>G (p.Thr47Ser) c.259C>G (n.259C>G) c.134C>G (p.Thr45Ser) | |
6 | g.136826384C>T | CA365855859 | PEX7 | c.254C>T (p.Thr85Ile) c.129C>T c.140C>T (p.Thr47Ile) c.259C>T (n.259C>T) c.134C>T (p.Thr45Ile) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826385C>A | CA452376638 | PEX7 | c.255C>A (p.Thr85=) c.130C>A c.141C>A (p.Thr47=) c.260C>A (n.260C>A) c.135C>A (p.Thr45=) | |
6 | g.136826385C>G | CA4017540 | PEX7 | c.255C>G (p.Thr85=) c.130C>G c.141C>G (p.Thr47=) c.260C>G (n.260C>G) c.135C>G (p.Thr45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.136826385C>T | CA452376639 | PEX7 | c.255C>T (p.Thr85=) c.130C>T c.141C>T (p.Thr47=) c.260C>T (n.260C>T) c.135C>T (p.Thr45=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826386T>A | CA365855860 | PEX7 | c.256T>A (p.Cys86Ser) c.131T>A c.142T>A (p.Cys48Ser) c.261T>A (n.261T>A) c.136T>A (p.Cys46Ser) | |
6 | g.136826386T>C | CA365855861 | PEX7 | c.256T>C (p.Cys86Arg) c.131T>C c.142T>C (p.Cys48Arg) c.261T>C (n.261T>C) c.136T>C (p.Cys46Arg) | |
6 | g.136826386T>G | CA365855862 | PEX7 | c.256T>G (p.Cys86Gly) c.131T>G c.142T>G (p.Cys48Gly) c.261T>G (n.261T>G) c.136T>G (p.Cys46Gly) | |
6 | g.136826387G>A | CA365855863 | PEX7 | c.257G>A (p.Cys86Tyr) c.132G>A c.143G>A (p.Cys48Tyr) c.262G>A (n.262G>A) c.137G>A (p.Cys46Tyr) | ClinVar dbSNP |
6 | g.136826387G>C | CA365855864 | PEX7 | c.257G>C (p.Cys86Ser) c.132G>C c.143G>C (p.Cys48Ser) c.262G>C (n.262G>C) c.137G>C (p.Cys46Ser) | |
6 | g.136826387G>T | CA148641172 | PEX7 | c.257G>T (p.Cys86Phe) c.132G>T c.143G>T (p.Cys48Phe) c.262G>T (n.262G>T) c.137G>T (p.Cys46Phe) | ClinVar dbSNP gnomAD v4 |
6 | g.136826388T>A | CA365855865 | PEX7 | c.258T>A (p.Cys86Ter) c.133T>A c.144T>A (p.Cys48Ter) c.263T>A (n.263T>A) c.138T>A (p.Cys46Ter) | |
6 | g.136826388T>C | CA452376645 | PEX7 | c.258T>C (p.Cys86=) c.133T>C c.144T>C (p.Cys48=) c.263T>C (n.263T>C) c.138T>C (p.Cys46=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826388T>G | CA365855866 | PEX7 | c.258T>G (p.Cys86Trp) c.133T>G c.144T>G (p.Cys48Trp) c.263T>G (n.263T>G) c.138T>G (p.Cys46Trp) | |
6 | g.136826389A>C | CA365855869 | PEX7 | c.259A>C (p.Ser87Arg) c.134A>C c.145A>C (p.Ser49Arg) c.264A>C (n.264A>C) c.139A>C (p.Ser47Arg) | |
6 | g.136826389A>G | CA365855868 | PEX7 | c.259A>G (p.Ser87Gly) c.134A>G c.145A>G (p.Ser49Gly) c.264A>G (n.264A>G) c.139A>G (p.Ser47Gly) | gnomAD v4 COSMIC COSMIC |
6 | g.136826389A>T | CA365855867 | PEX7 | c.259A>T (p.Ser87Cys) c.134A>T c.145A>T (p.Ser49Cys) c.264A>T (n.264A>T) c.139A>T (p.Ser47Cys) | |
6 | g.136826390G>A | CA365855870 | PEX7 | c.260G>A (p.Ser87Asn) c.135G>A c.146G>A (p.Ser49Asn) c.265G>A (n.265G>A) c.140G>A (p.Ser47Asn) | |
6 | g.136826390G>C | CA365855871 | PEX7 | c.260G>C (p.Ser87Thr) c.135G>C c.146G>C (p.Ser49Thr) c.265G>C (n.265G>C) c.140G>C (p.Ser47Thr) | |
6 | g.136826390G>T | CA365855872 | PEX7 | c.260G>T (p.Ser87Ile) c.135G>T c.146G>T (p.Ser49Ile) c.265G>T (n.265G>T) c.140G>T (p.Ser47Ile) | |
6 | g.136826391T>A | CA365855873 | PEX7 | c.261T>A (p.Ser87Arg) c.136T>A c.147T>A (p.Ser49Arg) c.266T>A (n.266T>A) c.141T>A (p.Ser47Arg) | |
6 | g.136826391T>C | CA452376657 | PEX7 | c.261T>C (p.Ser87=) c.136T>C c.147T>C (p.Ser49=) c.266T>C (n.266T>C) c.141T>C (p.Ser47=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826391T>G | CA365855874 | PEX7 | c.261T>G (p.Ser87Arg) c.136T>G c.147T>G (p.Ser49Arg) c.266T>G (n.266T>G) c.141T>G (p.Ser47Arg) | |
6 | g.136826392G>A | CA365855875 | PEX7 | c.262G>A (p.Gly88Ser) c.137G>A c.148G>A (p.Gly50Ser) c.267G>A (n.267G>A) c.142G>A (p.Gly48Ser) | |
6 | g.136826392G>C | CA365855876 | PEX7 | c.262G>C (p.Gly88Arg) c.137G>C c.148G>C (p.Gly50Arg) c.267G>C (n.267G>C) c.142G>C (p.Gly48Arg) | |
6 | g.136826392G>T | CA365855877 | PEX7 | c.262G>T (p.Gly88Cys) c.137G>T c.148G>T (p.Gly50Cys) c.267G>T (n.267G>T) c.142G>T (p.Gly48Cys) | |
6 | g.136826393G>A | CA365855878 | PEX7 | c.263G>A (p.Gly88Asp) c.138G>A c.149G>A (p.Gly50Asp) c.268G>A (n.268G>A) c.143G>A (p.Gly48Asp) | gnomAD v4 |
6 | g.136826393G>C | CA365855880 | PEX7 | c.263G>C (p.Gly88Ala) c.138G>C c.149G>C (p.Gly50Ala) c.268G>C (n.268G>C) c.143G>C (p.Gly48Ala) | |
6 | g.136826393G>T | CA365855879 | PEX7 | c.263G>T (p.Gly88Val) c.138G>T c.149G>T (p.Gly50Val) c.268G>T (n.268G>T) c.143G>T (p.Gly48Val) | |
6 | g.136826394C>A | CA452376670 | PEX7 | c.264C>A (p.Gly88=) c.139C>A c.150C>A (p.Gly50=) c.269C>A (n.269C>A) c.144C>A (p.Gly48=) | ClinVar |
6 | g.136826394C>G | CA452376673 | PEX7 | c.264C>G (p.Gly88=) c.139C>G c.150C>G (p.Gly50=) c.269C>G (n.269C>G) c.144C>G (p.Gly48=) | |
6 | g.136826394C>T | CA4017541 | PEX7 | c.264C>T (p.Gly88=) c.139C>T c.150C>T (p.Gly50=) c.269C>T (n.269C>T) c.144C>T (p.Gly48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.136826395G>A | CA4017542 | PEX7 | c.265G>A (p.Asp89Asn) c.140G>A c.151G>A (p.Asp51Asn) c.270G>A (n.270G>A) c.145G>A (p.Asp49Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.136826395G>C | CA365855881 | PEX7 | c.265G>C (p.Asp89His) c.140G>C c.151G>C (p.Asp51His) c.270G>C (n.270G>C) c.145G>C (p.Asp49His) | |
6 | g.136826395G>T | CA365855882 | PEX7 | c.265G>T (p.Asp89Tyr) c.140G>T c.151G>T (p.Asp51Tyr) c.270G>T (n.270G>T) c.145G>T (p.Asp49Tyr) | |
6 | g.136826396A>C | CA365855883 | PEX7 | c.266A>C (p.Asp89Ala) c.141A>C c.152A>C (p.Asp51Ala) c.271A>C (n.271A>C) c.146A>C (p.Asp49Ala) | |
6 | g.136826396A>G | CA365855885 | PEX7 | c.266A>G (p.Asp89Gly) c.141A>G c.152A>G (p.Asp51Gly) c.271A>G (n.271A>G) c.146A>G (p.Asp49Gly) | gnomAD v3 gnomAD v4 |
6 | g.136826396A>T | CA365855884 | PEX7 | c.266A>T (p.Asp89Val) c.141A>T c.152A>T (p.Asp51Val) c.271A>T (n.271A>T) c.146A>T (p.Asp49Val) | |
6 | g.136826397T>A | CA365855886 | PEX7 | c.267T>A (p.Asp89Glu) c.142T>A c.153T>A (p.Asp51Glu) c.272T>A (n.272T>A) c.147T>A (p.Asp49Glu) | |
6 | g.136826397T>C | CA452376690 | PEX7 | c.267T>C (p.Asp89=) c.142T>C c.153T>C (p.Asp51=) c.272T>C (n.272T>C) c.147T>C (p.Asp49=) | |
6 | g.136826397T>G | CA365855887 | PEX7 | c.267T>G (p.Asp89Glu) c.142T>G c.153T>G (p.Asp51Glu) c.272T>G (n.272T>G) c.147T>G (p.Asp49Glu) | |
6 | g.136826398G>A | CA365855888 | PEX7 | c.268G>A (p.Gly90Ser) c.143G>A c.154G>A (p.Gly52Ser) c.273G>A (n.273G>A) c.148G>A (p.Gly50Ser) | gnomAD v4 |
6 | g.136826398G>C | CA365855889 | PEX7 | c.268G>C (p.Gly90Arg) c.143G>C c.154G>C (p.Gly52Arg) c.273G>C (n.273G>C) c.148G>C (p.Gly50Arg) | |
6 | g.136826398G>T | CA365855890 | PEX7 | c.268G>T (p.Gly90Cys) c.143G>T c.154G>T (p.Gly52Cys) c.273G>T (n.273G>T) c.148G>T (p.Gly50Cys) | |
6 | g.136826399G>A | CA365855891 | PEX7 | c.269G>A (p.Gly90Asp) c.144G>A c.155G>A (p.Gly52Asp) c.274G>A (n.274G>A) c.149G>A (p.Gly50Asp) | |
6 | g.136826399G>C | CA365855892 | PEX7 | c.269G>C (p.Gly90Ala) c.144G>C c.155G>C (p.Gly52Ala) c.274G>C (n.274G>C) c.149G>C (p.Gly50Ala) | |
6 | g.136826399G>T | CA365855893 | PEX7 | c.269G>T (p.Gly90Val) c.144G>T c.155G>T (p.Gly52Val) c.274G>T (n.274G>T) c.149G>T (p.Gly50Val) | |
6 | g.136826400C>A | CA452376704 | PEX7 | c.270C>A (p.Gly90=) c.145C>A c.156C>A (p.Gly52=) c.275C>A (n.275C>A) c.150C>A (p.Gly50=) | |
6 | g.136826400C>G | CA452376709 | PEX7 | c.270C>G (p.Gly90=) c.145C>G c.156C>G (p.Gly52=) c.275C>G (n.275C>G) c.150C>G (p.Gly50=) | |
6 | g.136826400C>T | CA452376712 | PEX7 | c.270C>T (p.Gly90=) c.145C>T c.156C>T (p.Gly52=) c.275C>T (n.275C>T) c.150C>T (p.Gly50=) | |
6 | g.136826401T>A | CA365855894 | PEX7 | c.271T>A (p.Ser91Thr) c.146T>A c.157T>A (p.Ser53Thr) c.276T>A (n.276T>A) c.151T>A (p.Ser51Thr) | |
6 | g.136826401T>C | CA365855895 | PEX7 | c.271T>C (p.Ser91Pro) c.146T>C c.157T>C (p.Ser53Pro) c.276T>C (n.276T>C) c.151T>C (p.Ser51Pro) | |
6 | g.136826401T>G | CA365855896 | PEX7 | c.271T>G (p.Ser91Ala) c.146T>G c.157T>G (p.Ser53Ala) c.276T>G (n.276T>G) c.151T>G (p.Ser51Ala) | |
6 | g.136826402C>A | CA365855897 | PEX7 | c.272C>A (p.Ser91Ter) c.147C>A c.158C>A (p.Ser53Ter) c.277C>A (n.277C>A) c.152C>A (p.Ser51Ter) | |
6 | g.136826402C>G | CA365855898 | PEX7 | c.272C>G (p.Ser91Trp) c.147C>G c.158C>G (p.Ser53Trp) c.277C>G (n.277C>G) c.152C>G (p.Ser51Trp) | gnomAD v4 COSMIC COSMIC |
6 | g.136826402C>T | CA4017543 | PEX7 | c.272C>T (p.Ser91Leu) c.147C>T c.158C>T (p.Ser53Leu) c.277C>T (n.277C>T) c.152C>T (p.Ser51Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826403G>A | CA452376725 | PEX7 | c.273G>A (p.Ser91=) c.148G>A c.159G>A (p.Ser53=) c.278G>A (n.278G>A) c.153G>A (p.Ser51=) | ClinVar dbSNP gnomAD v4 |
6 | g.136826403G>C | CA4017544 | PEX7 | c.273G>C (p.Ser91=) c.148G>C c.159G>C (p.Ser53=) c.278G>C (n.278G>C) c.153G>C (p.Ser51=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.136826403G>T | CA452376728 | PEX7 | c.273G>T (p.Ser91=) c.148G>T c.159G>T (p.Ser53=) c.278G>T (n.278G>T) c.153G>T (p.Ser51=) | gnomAD v4 |
6 | g.136826404C>A | CA365855899 | PEX7 | c.274C>A (p.Leu92Met) c.149C>A c.160C>A (p.Leu54Met) c.279C>A (n.279C>A) c.154C>A (p.Leu52Met) | |
6 | g.136826404C>G | CA365855900 | PEX7 | c.274C>G (p.Leu92Val) c.149C>G c.160C>G (p.Leu54Val) c.279C>G (n.279C>G) c.154C>G (p.Leu52Val) | |
6 | g.136826404C>T | CA452376730 | PEX7 | c.274C>T (p.Leu92=) c.149C>T c.160C>T (p.Leu54=) c.279C>T (n.279C>T) c.154C>T (p.Leu52=) | |
6 | g.136826405T>A | CA365855901 | PEX7 | c.275T>A (p.Leu92Gln) c.150T>A c.161T>A (p.Leu54Gln) c.280T>A (n.280T>A) c.155T>A (p.Leu52Gln) | |
6 | g.136826405T>C | CA365855902 | PEX7 | c.275T>C (p.Leu92Pro) c.150T>C c.161T>C (p.Leu54Pro) c.280T>C (n.280T>C) c.155T>C (p.Leu52Pro) | ClinVar gnomAD v4 |
6 | g.136826405T>G | CA365855903 | PEX7 | c.275T>G (p.Leu92Arg) c.150T>G c.161T>G (p.Leu54Arg) c.280T>G (n.280T>G) c.155T>G (p.Leu52Arg) | |
6 | g.136826406G>A | CA452376743 | PEX7 | c.276G>A (p.Leu92=) c.151G>A c.162G>A (p.Leu54=) c.281G>A (n.281G>A) c.156G>A (p.Leu52=) | |
6 | g.136826406G>C | CA452376745 | PEX7 | c.276G>C (p.Leu92=) c.151G>C c.162G>C (p.Leu54=) c.281G>C (n.281G>C) c.156G>C (p.Leu52=) | |
6 | g.136826406G>T | CA452376747 | PEX7 | c.276G>T (p.Leu92=) c.151G>T c.162G>T (p.Leu54=) c.281G>T (n.281G>T) c.156G>T (p.Leu52=) | |
6 | g.136826407C>A | CA365855904 | PEX7 | c.277C>A (p.Gln93Lys) c.152C>A c.163C>A (p.Gln55Lys) c.282C>A (n.282C>A) c.157C>A (p.Gln53Lys) | gnomAD v4 |
6 | g.136826407C>G | CA365855905 | PEX7 | c.277C>G (p.Gln93Glu) c.152C>G c.163C>G (p.Gln55Glu) c.282C>G (n.282C>G) c.157C>G (p.Gln53Glu) | |
6 | g.136826407C>T | CA4017545 | PEX7 | c.277C>T (p.Gln93Ter) c.152C>T c.163C>T (p.Gln55Ter) c.282C>T (n.282C>T) c.157C>T (p.Gln53Ter) | ClinVar dbSNP ExAC |
6 | g.136826408A>C | CA365855906 | PEX7 | c.278A>C (p.Gln93Pro) c.153A>C c.164A>C (p.Gln55Pro) c.283A>C (n.283A>C) c.158A>C (p.Gln53Pro) | |
6 | g.136826408A>G | CA365855907 | PEX7 | c.278A>G (p.Gln93Arg) c.153A>G c.164A>G (p.Gln55Arg) c.283A>G (n.283A>G) c.158A>G (p.Gln53Arg) | ClinVar |
6 | g.136826408A>T | CA365855908 | PEX7 | c.278A>T (p.Gln93Leu) c.153A>T c.164A>T (p.Gln55Leu) c.283A>T (n.283A>T) c.158A>T (p.Gln53Leu) | |
6 | g.136826409G>A | CA452376758 | PEX7 | c.279G>A (p.Gln93=) c.154G>A c.165G>A (p.Gln55=) c.284G>A (n.284G>A) c.159G>A (p.Gln53=) | ClinVar |
6 | g.136826409G>C | CA365855910 | PEX7 | c.279G>C (p.Gln93His) c.154G>C c.165G>C (p.Gln55His) c.284G>C (n.284G>C) c.159G>C (p.Gln53His) | |
6 | g.136826409G>T | CA365855909 | PEX7 | c.279G>T (p.Gln93His) c.154G>T c.165G>T (p.Gln55His) c.284G>T (n.284G>T) c.159G>T (p.Gln53His) | |
6 | g.136826410C>A | CA365855911 | PEX7 | c.280C>A (p.Leu94Ile) c.155C>A c.166C>A (p.Leu56Ile) c.285C>A (n.285C>A) c.160C>A (p.Leu54Ile) | |
6 | g.136826410C>G | CA365855912 | PEX7 | c.280C>G (p.Leu94Val) c.155C>G c.166C>G (p.Leu56Val) c.285C>G (n.285C>G) c.160C>G (p.Leu54Val) | |
6 | g.136826410C>T | CA365855913 | PEX7 | c.280C>T (p.Leu94Phe) c.155C>T c.166C>T (p.Leu56Phe) c.285C>T (n.285C>T) c.160C>T (p.Leu54Phe) | |
6 | g.136826411T>A | CA365855914 | PEX7 | c.281T>A (p.Leu94His) c.156T>A c.167T>A (p.Leu56His) c.286T>A (n.286T>A) c.161T>A (p.Leu54His) | |
6 | g.136826411T>C | CA365855915 | PEX7 | c.281T>C (p.Leu94Pro) c.156T>C c.167T>C (p.Leu56Pro) c.286T>C (n.286T>C) c.161T>C (p.Leu54Pro) | gnomAD v4 |
6 | g.136826411T>G | CA365855916 | PEX7 | c.281T>G (p.Leu94Arg) c.156T>G c.167T>G (p.Leu56Arg) c.286T>G (n.286T>G) c.161T>G (p.Leu54Arg) | |
6 | g.136826412C>A | CA452376777 | PEX7 | c.282C>A (p.Leu94=) c.157C>A c.168C>A (p.Leu56=) c.287C>A (n.287C>A) c.162C>A (p.Leu54=) | |
6 | g.136826412C>G | CA452376784 | PEX7 | c.282C>G (p.Leu94=) c.157C>G c.168C>G (p.Leu56=) c.287C>G (n.287C>G) c.162C>G (p.Leu54=) | |
6 | g.136826412C>T | CA452376787 | PEX7 | c.282C>T (p.Leu94=) c.157C>T c.168C>T (p.Leu56=) c.287C>T (n.287C>T) c.162C>T (p.Leu54=) | |
6 | g.136826413_136826418del | CA2680488171 | PEX7 | c.283_288del (p.Trp95_Asp96del) c.158_163del c.169_174del (p.Trp57_Asp58del) c.288_293del (n.288_293del) c.163_168del (p.Trp55_Asp56del) | gnomAD v4 |
6 | g.136826413T>A | CA365855917 | PEX7 | c.283T>A (p.Trp95Arg) c.158T>A c.169T>A (p.Trp57Arg) c.288T>A (n.288T>A) c.163T>A (p.Trp55Arg) | |
6 | g.136826413T>C | CA365855918 | PEX7 | c.283T>C (p.Trp95Arg) c.158T>C c.169T>C (p.Trp57Arg) c.288T>C (n.288T>C) c.163T>C (p.Trp55Arg) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826413T>G | CA365855919 | PEX7 | c.283T>G (p.Trp95Gly) c.158T>G c.169T>G (p.Trp57Gly) c.288T>G (n.288T>G) c.163T>G (p.Trp55Gly) | |
6 | g.136826414G>A | CA365855920 | PEX7 | c.284G>A (p.Trp95Ter) c.159G>A c.170G>A (p.Trp57Ter) c.289G>A (n.289G>A) c.164G>A (p.Trp55Ter) | ClinVar |
6 | g.136826414G>C | CA365855921 | PEX7 | c.284G>C (p.Trp95Ser) c.159G>C c.170G>C (p.Trp57Ser) c.289G>C (n.289G>C) c.164G>C (p.Trp55Ser) | dbSNP |
6 | g.136826414G>T | CA365855922 | PEX7 | c.284G>T (p.Trp95Leu) c.159G>T c.170G>T (p.Trp57Leu) c.289G>T (n.289G>T) c.164G>T (p.Trp55Leu) | |
6 | g.136826415G>A | CA365855924 | PEX7 | c.285G>A (p.Trp95Ter) c.160G>A c.171G>A (p.Trp57Ter) c.290G>A (n.290G>A) c.165G>A (p.Trp55Ter) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.136826415G>C | CA365855925 | PEX7 | c.285G>C (p.Trp95Cys) c.160G>C c.171G>C (p.Trp57Cys) c.290G>C (n.290G>C) c.165G>C (p.Trp55Cys) | |
6 | g.136826415G>T | CA365855923 | PEX7 | c.285G>T (p.Trp95Cys) c.160G>T c.171G>T (p.Trp57Cys) c.290G>T (n.290G>T) c.165G>T (p.Trp55Cys) | |
6 | g.136826416G>A | CA365855927 | PEX7 | c.286G>A (p.Asp96Asn) c.161G>A c.172G>A (p.Asp58Asn) c.291G>A (n.291G>A) c.166G>A (p.Asp56Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826416G>C | CA365855926 | PEX7 | c.286G>C (p.Asp96His) c.161G>C c.172G>C (p.Asp58His) c.291G>C (n.291G>C) c.166G>C (p.Asp56His) | |
6 | g.136826416G>T | CA365855928 | PEX7 | c.286G>T (p.Asp96Tyr) c.161G>T c.172G>T (p.Asp58Tyr) c.291G>T (n.291G>T) c.166G>T (p.Asp56Tyr) | |
6 | g.136826417A>C | CA365855929 | PEX7 | c.287A>C (p.Asp96Ala) c.162A>C c.173A>C (p.Asp58Ala) c.292A>C (n.292A>C) c.167A>C (p.Asp56Ala) | |
6 | g.136826417A>G | CA365855930 | PEX7 | c.287A>G (p.Asp96Gly) c.162A>G c.173A>G (p.Asp58Gly) c.292A>G (n.292A>G) c.167A>G (p.Asp56Gly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826417A>T | CA365855931 | PEX7 | c.287A>T (p.Asp96Val) c.162A>T c.173A>T (p.Asp58Val) c.292A>T (n.292A>T) c.167A>T (p.Asp56Val) | |
6 | g.136826419_136826420del | CA913109585 | PEX7 | c.289_290del (p.Thr97CysfsTer11) c.164_165del c.175_176del (p.Thr59CysfsTer11) c.294_295del (n.294_295del) c.169_170del (p.Thr57CysfsTer11) | ClinVar |
6 | g.136826418C>A | CA365855932 | PEX7 | c.288C>A (p.Asp96Glu) c.163C>A c.174C>A (p.Asp58Glu) c.293C>A (n.293C>A) c.168C>A (p.Asp56Glu) | |
6 | g.136826418C>G | CA365855933 | PEX7 | c.288C>G (p.Asp96Glu) c.163C>G c.174C>G (p.Asp58Glu) c.293C>G (n.293C>G) c.168C>G (p.Asp56Glu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826418C>T | CA452376812 | PEX7 | c.288C>T (p.Asp96=) c.163C>T c.174C>T (p.Asp58=) c.293C>T (n.293C>T) c.168C>T (p.Asp56=) | |
6 | g.136826424_136826443dup | CA917868902 | PEX7 | c.294_313dup (p.Gln105ProfsTer?) c.169_188dup c.180_199dup (p.Gln67ProfsTer?) c.299_318dup (n.299_318dup) c.174_193dup (p.Gln65ProfsTer?) c.294_313dup (p.Gln105ProfsTer24) c.294_313dup (p.Gln105ProfsTer20) | ClinVar dbSNP |
6 | g.136826419A>C | CA365855934 | PEX7 | c.289A>C (p.Thr97Pro) c.164A>C c.175A>C (p.Thr59Pro) c.294A>C (n.294A>C) c.169A>C (p.Thr57Pro) | |
6 | g.136826419A>G | CA365855935 | PEX7 | c.289A>G (p.Thr97Ala) c.164A>G c.175A>G (p.Thr59Ala) c.294A>G (n.294A>G) c.169A>G (p.Thr57Ala) | |
6 | g.136826419A>T | CA365855936 | PEX7 | c.289A>T (p.Thr97Ser) c.164A>T c.175A>T (p.Thr59Ser) c.294A>T (n.294A>T) c.169A>T (p.Thr57Ser) | |
6 | g.136826420C>A | CA365855937 | PEX7 | c.290C>A (p.Thr97Asn) c.165C>A c.176C>A (p.Thr59Asn) c.295C>A (n.295C>A) c.170C>A (p.Thr57Asn) | |
6 | g.136826420C>G | CA365855938 | PEX7 | c.290C>G (p.Thr97Ser) c.165C>G c.176C>G (p.Thr59Ser) c.295C>G (n.295C>G) c.170C>G (p.Thr57Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826420C>T | CA365855939 | PEX7 | c.290C>T (p.Thr97Ile) c.165C>T c.176C>T (p.Thr59Ile) c.295C>T (n.295C>T) c.170C>T (p.Thr57Ile) | |
6 | g.136826421T>A | CA452376858 | PEX7 | c.291T>A (p.Thr97=) c.166T>A c.177T>A (p.Thr59=) c.296T>A (n.296T>A) c.171T>A (p.Thr57=) | |
6 | g.136826421T>C | CA452376853 | PEX7 | c.291T>C (p.Thr97=) c.166T>C c.177T>C (p.Thr59=) c.296T>C (n.296T>C) c.171T>C (p.Thr57=) | gnomAD v4 |
6 | g.136826421T>G | CA452376839 | PEX7 | c.291T>G (p.Thr97=) c.166T>G c.177T>G (p.Thr59=) c.296T>G (n.296T>G) c.171T>G (p.Thr57=) | |
6 | g.136826422G>A | CA365855942 | PEX7 | c.292G>A (p.Ala98Thr) c.167G>A c.178G>A (p.Ala60Thr) c.297G>A (n.297G>A) c.172G>A (p.Ala58Thr) | |
6 | g.136826422G>C | CA365855941 | PEX7 | c.292G>C (p.Ala98Pro) c.167G>C c.178G>C (p.Ala60Pro) c.297G>C (n.297G>C) c.172G>C (p.Ala58Pro) | |
6 | g.136826422G>T | CA365855940 | PEX7 | c.292G>T (p.Ala98Ser) c.167G>T c.178G>T (p.Ala60Ser) c.297G>T (n.297G>T) c.172G>T (p.Ala58Ser) | |
6 | g.136826423C>A | CA365855943 | PEX7 | c.293C>A (p.Ala98Asp) c.168C>A c.179C>A (p.Ala60Asp) c.298C>A (n.298C>A) c.173C>A (p.Ala58Asp) | |
6 | g.136826423C>G | CA365855944 | PEX7 | c.293C>G (p.Ala98Gly) c.168C>G c.179C>G (p.Ala60Gly) c.298C>G (n.298C>G) c.173C>G (p.Ala58Gly) | |
6 | g.136826423C>T | CA365855945 | PEX7 | c.293C>T (p.Ala98Val) c.168C>T c.179C>T (p.Ala60Val) c.298C>T (n.298C>T) c.173C>T (p.Ala58Val) | |
6 | g.136826424del | CA570744627 | PEX7 | c.294del (p.Ala100LeufsTer?) c.169del c.180del (p.Ala62LeufsTer?) c.299del (n.299del) c.174del (p.Ala60LeufsTer?) c.294del (p.Ala100LeufsTer22) c.294del (p.Ala100LeufsTer18) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826424C>A | CA452376877 | PEX7 | c.294C>A (p.Ala98=) c.169C>A c.180C>A (p.Ala60=) c.299C>A (n.299C>A) c.174C>A (p.Ala58=) | |
6 | g.136826424C>G | CA452376890 | PEX7 | c.294C>G (p.Ala98=) c.169C>G c.180C>G (p.Ala60=) c.299C>G (n.299C>G) c.174C>G (p.Ala58=) | |
6 | g.136826424C>T | CA452376888 | PEX7 | c.294C>T (p.Ala98=) c.169C>T c.180C>T (p.Ala60=) c.299C>T (n.299C>T) c.174C>T (p.Ala58=) | gnomAD v4 |
6 | g.136826425A>C | CA365855946 | PEX7 | c.295A>C (p.Lys99Gln) c.170A>C c.181A>C (p.Lys61Gln) c.300A>C (n.300A>C) c.175A>C (p.Lys59Gln) | |
6 | g.136826425A>G | CA365855947 | PEX7 | c.295A>G (p.Lys99Glu) c.170A>G c.181A>G (p.Lys61Glu) c.300A>G (n.300A>G) c.175A>G (p.Lys59Glu) | gnomAD v4 |
6 | g.136826425A>T | CA365855948 | PEX7 | c.295A>T (p.Lys99Ter) c.170A>T c.181A>T (p.Lys61Ter) c.300A>T (n.300A>T) c.175A>T (p.Lys59Ter) | |
6 | g.136826427del | CA2580075091 | PEX7 | c.297del (p.Ala100LeufsTer?) c.172del c.183del (p.Ala62LeufsTer?) c.302del (n.302del) c.177del (p.Ala60LeufsTer?) c.297del (p.Ala100LeufsTer22) c.297del (p.Ala100LeufsTer18) | ClinVar |
6 | g.136826426A>C | CA365855949 | PEX7 | c.296A>C (p.Lys99Thr) c.171A>C c.182A>C (p.Lys61Thr) c.301A>C (n.301A>C) c.176A>C (p.Lys59Thr) | |
6 | g.136826426A>G | CA148641173 | PEX7 | c.296A>G (p.Lys99Arg) c.171A>G c.182A>G (p.Lys61Arg) c.301A>G (n.301A>G) c.176A>G (p.Lys59Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826426A>T | CA365855950 | PEX7 | c.296A>T (p.Lys99Ile) c.171A>T c.182A>T (p.Lys61Ile) c.301A>T (n.301A>T) c.176A>T (p.Lys59Ile) | |
6 | g.136826427A>C | CA365855951 | PEX7 | c.297A>C (p.Lys99Asn) c.172A>C c.183A>C (p.Lys61Asn) c.302A>C (n.302A>C) c.177A>C (p.Lys59Asn) | |
6 | g.136826427A>G | CA4017546 | PEX7 | c.297A>G (p.Lys99=) c.172A>G c.183A>G (p.Lys61=) c.302A>G (n.302A>G) c.177A>G (p.Lys59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826427A>T | CA365855952 | PEX7 | c.297A>T (p.Lys99Asn) c.172A>T c.183A>T (p.Lys61Asn) c.302A>T (n.302A>T) c.177A>T (p.Lys59Asn) | |
6 | g.136826428G>A | CA365855954 | PEX7 | c.298G>A (p.Ala100Thr) c.173G>A c.184G>A (p.Ala62Thr) c.303G>A (n.303G>A) c.178G>A (p.Ala60Thr) | |
6 | g.136826428G>C | CA365855955 | PEX7 | c.298G>C (p.Ala100Pro) c.173G>C c.184G>C (p.Ala62Pro) c.303G>C (n.303G>C) c.178G>C (p.Ala60Pro) | |
6 | g.136826428G>T | CA365855953 | PEX7 | c.298G>T (p.Ala100Ser) c.173G>T c.184G>T (p.Ala62Ser) c.303G>T (n.303G>T) c.178G>T (p.Ala60Ser) | |
6 | g.136826429C>A | CA365855956 | PEX7 | c.299C>A (p.Ala100Asp) c.174C>A c.185C>A (p.Ala62Asp) c.304C>A (n.304C>A) c.179C>A (p.Ala60Asp) | |
6 | g.136826429C>G | CA365855957 | PEX7 | c.299C>G (p.Ala100Gly) c.174C>G c.185C>G (p.Ala62Gly) c.304C>G (n.304C>G) c.179C>G (p.Ala60Gly) | |
6 | g.136826429C>T | CA365855958 | PEX7 | c.299C>T (p.Ala100Val) c.174C>T c.185C>T (p.Ala62Val) c.304C>T (n.304C>T) c.179C>T (p.Ala60Val) | dbSNP |
6 | g.136826430T>A | CA452376914 | PEX7 | c.300T>A (p.Ala100=) c.175T>A c.186T>A (p.Ala62=) c.305T>A (n.305T>A) c.180T>A (p.Ala60=) | |
6 | g.136826430T>C | CA452376917 | PEX7 | c.300T>C (p.Ala100=) c.175T>C c.186T>C (p.Ala62=) c.305T>C (n.305T>C) c.180T>C (p.Ala60=) | ClinVar dbSNP |
6 | g.136826430T>G | CA452376920 | PEX7 | c.300T>G (p.Ala100=) c.175T>G c.186T>G (p.Ala62=) c.305T>G (n.305T>G) c.180T>G (p.Ala60=) | |
6 | g.136826431G>A | CA365855959 | PEX7 | c.301G>A (p.Ala101Thr) c.176G>A c.187G>A (p.Ala63Thr) c.306G>A (n.306G>A) c.181G>A (p.Ala61Thr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.136826431G>C | CA365855960 | PEX7 | c.301G>C (p.Ala101Pro) c.176G>C c.187G>C (p.Ala63Pro) c.306G>C (n.306G>C) c.181G>C (p.Ala61Pro) | |
6 | g.136826431G>T | CA365855961 | PEX7 | c.301G>T (p.Ala101Ser) c.176G>T c.187G>T (p.Ala63Ser) c.306G>T (n.306G>T) c.181G>T (p.Ala61Ser) | dbSNP gnomAD v4 COSMIC COSMIC |
6 | g.136826432C>A | CA365855962 | PEX7 | c.302C>A (p.Ala101Glu) c.177C>A c.188C>A (p.Ala63Glu) c.307C>A (n.307C>A) c.182C>A (p.Ala61Glu) | |
6 | g.136826432C>G | CA365855963 | PEX7 | c.302C>G (p.Ala101Gly) c.177C>G c.188C>G (p.Ala63Gly) c.307C>G (n.307C>G) c.182C>G (p.Ala61Gly) | |
6 | g.136826432C>T | CA365855964 | PEX7 | c.302C>T (p.Ala101Val) c.177C>T c.188C>T (p.Ala63Val) c.307C>T (n.307C>T) c.182C>T (p.Ala61Val) | COSMIC COSMIC |
6 | g.136826433A>C | CA452376936 | PEX7 | c.303A>C (p.Ala101=) c.178A>C c.189A>C (p.Ala63=) c.308A>C (n.308A>C) c.183A>C (p.Ala61=) | |
6 | g.136826433A>G | CA452376937 | PEX7 | c.303A>G (p.Ala101=) c.178A>G c.189A>G (p.Ala63=) c.308A>G (n.308A>G) c.183A>G (p.Ala61=) | |
6 | g.136826433A>T | CA452376940 | PEX7 | c.303A>T (p.Ala101=) c.178A>T c.189A>T (p.Ala63=) c.308A>T (n.308A>T) c.183A>T (p.Ala61=) | |
6 | g.136826434G>A | CA365855965 | PEX7 | c.304G>A (p.Gly102Arg) c.179G>A c.190G>A (p.Gly64Arg) c.309G>A (n.309G>A) c.184G>A (p.Gly62Arg) | |
6 | g.136826434G>C | CA365855966 | PEX7 | c.304G>C (p.Gly102Arg) c.179G>C c.190G>C (p.Gly64Arg) c.309G>C (n.309G>C) c.184G>C (p.Gly62Arg) | |
6 | g.136826434G>T | CA365855967 | PEX7 | c.304G>T (p.Gly102Trp) c.179G>T c.190G>T (p.Gly64Trp) c.309G>T (n.309G>T) c.184G>T (p.Gly62Trp) | |
6 | g.136826435G>A | CA365855969 | PEX7 | c.305G>A (p.Gly102Glu) c.180G>A c.191G>A (p.Gly64Glu) c.310G>A (n.310G>A) c.185G>A (p.Gly62Glu) | dbSNP |
6 | g.136826435G>C | CA365855970 | PEX7 | c.305G>C (p.Gly102Ala) c.180G>C c.191G>C (p.Gly64Ala) c.310G>C (n.310G>C) c.185G>C (p.Gly62Ala) | |
6 | g.136826435G>T | CA365855968 | PEX7 | c.305G>T (p.Gly102Val) c.180G>T c.191G>T (p.Gly64Val) c.310G>T (n.310G>T) c.185G>T (p.Gly62Val) | |
6 | g.136826436G>A | CA452376943 | PEX7 | c.306G>A (p.Gly102=) c.181G>A c.192G>A (p.Gly64=) c.311G>A (n.311G>A) c.186G>A (p.Gly62=) | |
6 | g.136826436G>C | CA452376946 | PEX7 | c.306G>C (p.Gly102=) c.181G>C c.192G>C (p.Gly64=) c.311G>C (n.311G>C) c.186G>C (p.Gly62=) | |
6 | g.136826436G>T | CA452376948 | PEX7 | c.306G>T (p.Gly102=) c.181G>T c.192G>T (p.Gly64=) c.311G>T (n.311G>T) c.186G>T (p.Gly62=) | |
6 | g.136826437C>A | CA4017547 | PEX7 | c.307C>A (p.Pro103Thr) c.182C>A c.193C>A (p.Pro65Thr) c.312C>A (n.312C>A) c.187C>A (p.Pro63Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826437C>G | CA365855971 | PEX7 | c.307C>G (p.Pro103Ala) c.182C>G c.193C>G (p.Pro65Ala) c.312C>G (n.312C>G) c.187C>G (p.Pro63Ala) | |
6 | g.136826437C>T | CA365855972 | PEX7 | c.307C>T (p.Pro103Ser) c.182C>T c.193C>T (p.Pro65Ser) c.312C>T (n.312C>T) c.187C>T (p.Pro63Ser) | gnomAD v4 |
6 | g.136826438C>A | CA365855973 | PEX7 | c.308C>A (p.Pro103Gln) c.183C>A c.194C>A (p.Pro65Gln) c.313C>A (n.313C>A) c.188C>A (p.Pro63Gln) | |
6 | g.136826438C>G | CA365855974 | PEX7 | c.308C>G (p.Pro103Arg) c.183C>G c.194C>G (p.Pro65Arg) c.313C>G (n.313C>G) c.188C>G (p.Pro63Arg) | |
6 | g.136826438C>T | CA365855975 | PEX7 | c.308C>T (p.Pro103Leu) c.183C>T c.194C>T (p.Pro65Leu) c.313C>T (n.313C>T) c.188C>T (p.Pro63Leu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.136826439A>C | CA452376962 | PEX7 | c.309A>C (p.Pro103=) c.184A>C c.195A>C (p.Pro65=) c.314A>C (n.314A>C) c.189A>C (p.Pro63=) | |
6 | g.136826439A>G | CA452376969 | PEX7 | c.309A>G (p.Pro103=) c.184A>G c.195A>G (p.Pro65=) c.314A>G (n.314A>G) c.189A>G (p.Pro63=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826439A>T | CA452376960 | PEX7 | c.309A>T (p.Pro103=) c.184A>T c.195A>T (p.Pro65=) c.314A>T (n.314A>T) c.189A>T (p.Pro63=) | |
6 | g.136826440C>A | CA365855977 | PEX7 | c.310C>A (p.Leu104Met) c.185C>A c.196C>A (p.Leu66Met) c.315C>A (n.315C>A) c.190C>A (p.Leu64Met) | |
6 | g.136826440C>G | CA365855976 | PEX7 | c.310C>G (p.Leu104Val) c.185C>G c.196C>G (p.Leu66Val) c.315C>G (n.315C>G) c.190C>G (p.Leu64Val) | |
6 | g.136826440C>T | CA452376972 | PEX7 | c.310C>T (p.Leu104=) c.185C>T c.196C>T (p.Leu66=) c.315C>T (n.315C>T) c.190C>T (p.Leu64=) | ClinVar dbSNP |
6 | g.136826441T>A | CA365855978 | PEX7 | c.311T>A (p.Leu104Gln) c.186T>A c.197T>A (p.Leu66Gln) c.316T>A (n.316T>A) c.191T>A (p.Leu64Gln) | |
6 | g.136826441T>C | CA365855979 | PEX7 | c.311T>C (p.Leu104Pro) c.186T>C c.197T>C (p.Leu66Pro) c.316T>C (n.316T>C) c.191T>C (p.Leu64Pro) | gnomAD v4 |
6 | g.136826441T>G | CA365855980 | PEX7 | c.311T>G (p.Leu104Arg) c.186T>G c.197T>G (p.Leu66Arg) c.316T>G (n.316T>G) c.191T>G (p.Leu64Arg) | |
6 | g.136826442G>A | CA452376976 | PEX7 | c.312G>A (p.Leu104=) c.187G>A c.198G>A (p.Leu66=) c.317G>A (n.317G>A) c.192G>A (p.Leu64=) | |
6 | g.136826442G>C | CA452376980 | PEX7 | c.312G>C (p.Leu104=) c.187G>C c.198G>C (p.Leu66=) c.317G>C (n.317G>C) c.192G>C (p.Leu64=) | gnomAD v4 |
6 | g.136826442G>T | CA452376979 | PEX7 | c.312G>T (p.Leu104=) c.187G>T c.198G>T (p.Leu66=) c.317G>T (n.317G>T) c.192G>T (p.Leu64=) | |
6 | g.136826443C>A | CA4017548 | PEX7 | c.313C>A (p.Gln105Lys) c.188C>A c.199C>A (p.Gln67Lys) c.318C>A (n.318C>A) c.193C>A (p.Gln65Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826443C>G | CA365855981 | PEX7 | c.313C>G (p.Gln105Glu) c.188C>G c.199C>G (p.Gln67Glu) c.318C>G (n.318C>G) c.193C>G (p.Gln65Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.136826443C>T | CA365855982 | PEX7 | c.313C>T (p.Gln105Ter) c.188C>T c.199C>T (p.Gln67Ter) c.318C>T (n.318C>T) c.193C>T (p.Gln65Ter) | dbSNP |
6 | g.136826444A>C | CA365855985 | PEX7 | c.314A>C (p.Gln105Pro) c.189A>C c.200A>C (p.Gln67Pro) c.319A>C (n.319A>C) c.194A>C (p.Gln65Pro) | |
6 | g.136826444A>G | CA365855984 | PEX7 | c.314A>G (p.Gln105Arg) c.189A>G c.200A>G (p.Gln67Arg) c.319A>G (n.319A>G) c.194A>G (p.Gln65Arg) | gnomAD v4 |
6 | g.136826444A>T | CA365855983 | PEX7 | c.314A>T (p.Gln105Leu) c.189A>T c.200A>T (p.Gln67Leu) c.319A>T (n.319A>T) c.194A>T (p.Gln65Leu) | |
6 | g.136826445A>C | CA365855986 | PEX7 | c.315A>C (p.Gln105His) c.190A>C c.201A>C (p.Gln67His) c.320A>C (n.320A>C) c.195A>C (p.Gln65His) | |
6 | g.136826445A>G | CA452376987 | PEX7 | c.315A>G (p.Gln105=) c.190A>G c.201A>G (p.Gln67=) c.320A>G (n.320A>G) c.195A>G (p.Gln65=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826445A>T | CA4017549 | PEX7 | c.315A>T (p.Gln105His) c.190A>T c.201A>T (p.Gln67His) c.320A>T (n.320A>T) c.195A>T (p.Gln65His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826446G>A | CA365855987 | PEX7 | c.316G>A (p.Val106Ile) c.191G>A c.202G>A (p.Val68Ile) c.321G>A (n.321G>A) c.196G>A (p.Val66Ile) | |
6 | g.136826446G>C | CA10626099 | PEX7 | c.316G>C (p.Val106Leu) c.191G>C c.202G>C (p.Val68Leu) c.321G>C (n.321G>C) c.196G>C (p.Val66Leu) | ClinVar dbSNP gnomAD v4 |
6 | g.136826446G>T | CA365855988 | PEX7 | c.316G>T (p.Val106Phe) c.191G>T c.202G>T (p.Val68Phe) c.321G>T (n.321G>T) c.196G>T (p.Val66Phe) | |
6 | g.136826447T>A | CA365855989 | PEX7 | c.317T>A (p.Val106Asp) c.192T>A c.203T>A (p.Val68Asp) c.322T>A (n.322T>A) c.197T>A (p.Val66Asp) | |
6 | g.136826447T>C | CA365855990 | PEX7 | c.317T>C (p.Val106Ala) c.192T>C c.203T>C (p.Val68Ala) c.322T>C (n.322T>C) c.197T>C (p.Val66Ala) | |
6 | g.136826447T>G | CA365855991 | PEX7 | c.317T>G (p.Val106Gly) c.192T>G c.203T>G (p.Val68Gly) c.322T>G (n.322T>G) c.197T>G (p.Val66Gly) | |
6 | g.136826448C>A | CA452377004 | PEX7 | c.318C>A (p.Val106=) c.193C>A c.204C>A (p.Val68=) c.323C>A (n.323C>A) c.198C>A (p.Val66=) | |
6 | g.136826448C>G | CA452377006 | PEX7 | c.318C>G (p.Val106=) c.193C>G c.204C>G (p.Val68=) c.323C>G (n.323C>G) c.198C>G (p.Val66=) | |
6 | g.136826448C>T | CA452377009 | PEX7 | c.318C>T (p.Val106=) c.193C>T c.204C>T (p.Val68=) c.323C>T (n.323C>T) c.198C>T (p.Val66=) | |
6 | g.136826449T>A | CA365855994 | PEX7 | c.319T>A (p.Tyr107Asn) c.194T>A c.205T>A (p.Tyr69Asn) c.324T>A (n.324T>A) c.199T>A (p.Tyr67Asn) | ClinVar |
6 | g.136826449T>C | CA365855992 | PEX7 | c.319T>C (p.Tyr107His) c.194T>C c.205T>C (p.Tyr69His) c.324T>C (n.324T>C) c.199T>C (p.Tyr67His) | gnomAD v4 |
6 | g.136826449T>G | CA365855993 | PEX7 | c.319T>G (p.Tyr107Asp) c.194T>G c.205T>G (p.Tyr69Asp) c.324T>G (n.324T>G) c.199T>G (p.Tyr67Asp) | |
6 | g.136826451_136826452del | CA2695207125 | PEX7 | c.321_322del (p.Tyr107Ter) c.196_197del c.207_208del (p.Tyr69Ter) c.326_327del (n.326_327del) c.201_202del (p.Tyr67Ter) | |
6 | g.136826450A>C | CA365855995 | PEX7 | c.320A>C (p.Tyr107Ser) c.195A>C c.206A>C (p.Tyr69Ser) c.325A>C (n.325A>C) c.200A>C (p.Tyr67Ser) | |
6 | g.136826450A>G | CA4017550 | PEX7 | c.320A>G (p.Tyr107Cys) c.195A>G c.206A>G (p.Tyr69Cys) c.325A>G (n.325A>G) c.200A>G (p.Tyr67Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.136826450A>T | CA365855996 | PEX7 | c.320A>T (p.Tyr107Phe) c.195A>T c.206A>T (p.Tyr69Phe) c.325A>T (n.325A>T) c.200A>T (p.Tyr67Phe) | |
6 | g.136826451T>A | CA365855997 | PEX7 | c.321T>A (p.Tyr107Ter) c.196T>A c.207T>A (p.Tyr69Ter) c.326T>A (n.326T>A) c.201T>A (p.Tyr67Ter) | |
6 | g.136826451T>C | CA452377026 | PEX7 | c.321T>C (p.Tyr107=) c.196T>C c.207T>C (p.Tyr69=) c.326T>C (n.326T>C) c.201T>C (p.Tyr67=) | |
6 | g.136826451T>G | CA365855998 | PEX7 | c.321T>G (p.Tyr107Ter) c.196T>G c.207T>G (p.Tyr69Ter) c.326T>G (n.326T>G) c.201T>G (p.Tyr67Ter) | |
6 | g.136826452A>C | CA365855999 | PEX7 | c.322A>C (p.Lys108Gln) c.197A>C c.208A>C (p.Lys70Gln) c.327A>C (n.327A>C) c.202A>C (p.Lys68Gln) | |
6 | g.136826452A>G | CA148641174 | PEX7 | c.322A>G (p.Lys108Glu) c.197A>G c.208A>G (p.Lys70Glu) c.327A>G (n.327A>G) c.202A>G (p.Lys68Glu) | ClinVar dbSNP gnomAD v4 |
6 | g.136826452A>T | CA365856000 | PEX7 | c.322A>T (p.Lys108Ter) c.197A>T c.208A>T (p.Lys70Ter) c.327A>T (n.327A>T) c.202A>T (p.Lys68Ter) | |
6 | g.136826453_136826454del | CA2580075094 | PEX7 | c.323_324del (p.Lys108ArgfsTer8) c.198_199del c.209_210del (p.Lys70ArgfsTer8) c.328_329del (n.328_329del) c.203_204del (p.Lys68ArgfsTer8) c.323_324del (p.Lys108ArgfsTer?) c.323_324del (p.Lys108ArgfsTer14) | ClinVar |
6 | g.136826461_136826703del | CA2773213201 | PEX7 | c.331_339+234del c.206_214+234del c.217_225+234del c.336_344+234del c.211_219+234del |