| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |