| 8 | g.76983173del | CA1795350525 | PEX2 | c.*90del (n.*90del)
| dbSNP |
| 8 | g.76983175G>A | CA2687718807 | PEX2 | c.*86C>T (n.*86C>T)
| gnomAD v4 |
| 8 | g.76983175G>T | CA2687718808 | PEX2 | c.*86C>A (n.*86C>A)
| gnomAD v4 |
| 8 | g.76983177T>C | CA855435713 | PEX2 | c.*84A>G (n.*84A>G)
| dbSNP gnomAD v4 |
| 8 | g.76983177T>G | CA2687718809 | PEX2 | c.*84A>C (n.*84A>C)
| gnomAD v4 |
| 8 | g.76983177T= | CA1795350527 | PEX2 | c.*84A= (n.*84A=)
| |
| 8 | g.76983179C>A | CA2687718810 | PEX2 | c.*82G>T (n.*82G>T)
| gnomAD v4 |
| 8 | g.76983180A= | CA1795350529 | PEX2 | c.*81T= (n.*81T=)
| |
| 8 | g.76983180A>G | CA855435724 | PEX2 | c.*81T>C (n.*81T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983181T>A | CA2687718811 | PEX2 | c.*80A>T (n.*80A>T)
| gnomAD v4 |
| 8 | g.76983181T>G | CA179988243 | PEX2 | c.*80A>C (n.*80A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983181T= | CA1795350533 | PEX2 | c.*80A= (n.*80A=)
| |
| 8 | g.76983182A>G | CA2687718812 | PEX2 | c.*79T>C (n.*79T>C)
| gnomAD v4 |
| 8 | g.76983182A>T | CA2687718813 | PEX2 | c.*79T>A (n.*79T>A)
| gnomAD v4 |
| 8 | g.76983184A= | CA1795350537 | PEX2 | c.*77T= (n.*77T=)
| |
| 8 | g.76983184A>C | CA1795350535 | PEX2 | c.*77T>G (n.*77T>G)
| dbSNP gnomAD v4 |
| 8 | g.76983185T>C | CA2687718814 | PEX2 | c.*76A>G (n.*76A>G)
| gnomAD v4 |
| 8 | g.76983187G>A | CA2687718815 | PEX2 | c.*74C>T (n.*74C>T)
| gnomAD v4 |
| 8 | g.76983188T>A | CA855435729 | PEX2 | c.*73A>T (n.*73A>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983188T>C | CA179988244 | PEX2 | c.*73A>G (n.*73A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983188T>G | CA1795350543 | PEX2 | c.*73A>C (n.*73A>C)
| dbSNP |
| 8 | g.76983188T= | CA1795350540 | PEX2 | c.*73A= (n.*73A=)
| |
| 8 | g.76983190T>C | CA1795350548 | PEX2 | c.*71A>G (n.*71A>G)
| dbSNP gnomAD v4 |
| 8 | g.76983190T= | CA1795350546 | PEX2 | c.*71A= (n.*71A=)
| |
| 8 | g.76983191A>T | CA2687718816 | PEX2 | c.*70T>A (n.*70T>A)
| gnomAD v4 |
| 8 | g.76983192C>A | CA1795350551 | PEX2 | c.*69G>T (n.*69G>T)
| dbSNP |
| 8 | g.76983192C= | CA1795350549 | PEX2 | c.*69G= (n.*69G=)
| |
| 8 | g.76983192C>G | CA2579209489 | PEX2 | c.*69G>C (n.*69G>C)
| gnomAD v4 |
| 8 | g.76983194T>C | CA1795350555 | PEX2 | c.*67A>G (n.*67A>G)
| dbSNP gnomAD v4 |
| 8 | g.76983194T= | CA1795350554 | PEX2 | c.*67A= (n.*67A=)
| |
| 8 | g.76983195A>C | CA2780922290 | PEX2 | c.*66T>G (n.*66T>G)
| |
| 8 | g.76983196G>A | CA2687718817 | PEX2 | c.*65C>T (n.*65C>T)
| gnomAD v4 |
| 8 | g.76983196G>T | CA2687718818 | PEX2 | c.*65C>A (n.*65C>A)
| gnomAD v4 |
| 8 | g.76983197G>A | CA179988245 | PEX2 | c.*64C>T (n.*64C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983197G= | CA1795350557 | PEX2 | c.*64C= (n.*64C=)
| |
| 8 | g.76983198A= | CA1795350560 | PEX2 | c.*63T= (n.*63T=)
| |
| 8 | g.76983198A>G | CA179988246 | PEX2 | c.*63T>C (n.*63T>C)
| dbSNP gnomAD v4 |
| 8 | g.76983199T>C | CA1115556635 | PEX2 | c.*62A>G (n.*62A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983199T= | CA1795350563 | PEX2 | c.*62A= (n.*62A=)
| |
| 8 | g.76983200G>A | CA855435746 | PEX2 | c.*61C>T (n.*61C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983200G= | CA1795350565 | PEX2 | c.*61C= (n.*61C=)
| |
| 8 | g.76983200G>T | CA2687718819 | PEX2 | c.*61C>A (n.*61C>A)
| gnomAD v4 |
| 8 | g.76983201A>C | CA2687718820 | PEX2 | c.*60T>G (n.*60T>G)
| gnomAD v4 |
| 8 | g.76983201A>G | CA2687718821 | PEX2 | c.*60T>C (n.*60T>C)
| gnomAD v4 |
| 8 | g.76983202C>T | CA2579209490 | PEX2 | c.*59G>A (n.*59G>A)
| gnomAD v4 |
| 8 | g.76983203T>C | CA179988247 | PEX2 | c.*58A>G (n.*58A>G)
| dbSNP |
| 8 | g.76983203T= | CA1795350566 | PEX2 | c.*58A= (n.*58A=)
| |
| 8 | g.76983206_76983211del | CA2579209491 | PEX2 | c.*53_*58del (n.*53_*58del)
| gnomAD v4 |
| 8 | g.76983204_76983205del | CA2579209492 | PEX2 | c.*56_*57del (n.*56_*57del)
| gnomAD v4 |
| 8 | g.76983205A>G | CA2687718822 | PEX2 | c.*56T>C (n.*56T>C)
| gnomAD v4 |
| 8 | g.76983207_76983208insGGATGT | CA2579209493 | PEX2 | c.*53_*54insACATCC (n.*53_*54insACATCC)
| gnomAD v4 |
| 8 | g.76983208T>A | CA2687718823 | PEX2 | c.*53A>T (n.*53A>T)
| gnomAD v4 |
| 8 | g.76983208T>C | CA2687718824 | PEX2 | c.*53A>G (n.*53A>G)
| gnomAD v4 |
| 8 | g.76983211dup | CA2579209494 | PEX2 | c.*51dup (n.*51dup)
| gnomAD v4 |
| 8 | g.76983212G>A | CA583110941 | PEX2 | c.*49C>T (n.*49C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983212G= | CA1795350570 | PEX2 | c.*49C= (n.*49C=)
| |
| 8 | g.76983212G>T | CA1795350569 | PEX2 | c.*49C>A (n.*49C>A)
| dbSNP gnomAD v4 |
| 8 | g.76983213A>T | CA2687718825 | PEX2 | c.*48T>A (n.*48T>A)
| gnomAD v4 |
| 8 | g.76983214A= | CA1795350574 | PEX2 | c.*47T= (n.*47T=)
| |
| 8 | g.76983214A>G | CA2687718826 | PEX2 | c.*47T>C (n.*47T>C)
| gnomAD v4 |
| 8 | g.76983214A>T | CA4788619 | PEX2 | c.*47T>A (n.*47T>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983215T>A | CA2687718827 | PEX2 | c.*46A>T (n.*46A>T)
| gnomAD v4 |
| 8 | g.76983217T>C | CA583110944 | PEX2 | c.*44A>G (n.*44A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983217T= | CA1795350576 | PEX2 | c.*44A= (n.*44A=)
| |
| 8 | g.76983218A>C | CA2687718830 | PEX2 | c.*43T>G (n.*43T>G)
| gnomAD v4 |
| 8 | g.76983218A>G | CA2687718828 | PEX2 | c.*43T>C (n.*43T>C)
| gnomAD v4 |
| 8 | g.76983218A>T | CA2687718829 | PEX2 | c.*43T>A (n.*43T>A)
| gnomAD v4 |
| 8 | g.76983219A>C | CA2687718831 | PEX2 | c.*42T>G (n.*42T>G)
| gnomAD v4 |
| 8 | g.76983219A>G | CA2687718832 | PEX2 | c.*42T>C (n.*42T>C)
| gnomAD v4 |
| 8 | g.76983221C>A | CA4788621 | PEX2 | c.*40G>T (n.*40G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983221C= | CA1795350579 | PEX2 | c.*40G= (n.*40G=)
| |
| 8 | g.76983221C>T | CA4788620 | PEX2 | c.*40G>A (n.*40G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983223C= | CA1795350584 | PEX2 | c.*38G= (n.*38G=)
| |
| 8 | g.76983223C>G | CA4788622 | PEX2 | c.*38G>C (n.*38G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983223C>T | CA4788623 | PEX2 | c.*38G>A (n.*38G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983224G>A | CA10628348 | PEX2 | c.*37C>T (n.*37C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983224G= | CA1795350596 | PEX2 | c.*37C= (n.*37C=)
| |
| 8 | g.76983224G>T | CA583110954 | PEX2 | c.*37C>A (n.*37C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983225G>A | CA2687718833 | PEX2 | c.*36C>T (n.*36C>T)
| gnomAD v4 |
| 8 | g.76983225G>C | CA4788624 | PEX2 | c.*36C>G (n.*36C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983225G= | CA1795350602 | PEX2 | c.*36C= (n.*36C=)
| |
| 8 | g.76983225G>T | CA2687718834 | PEX2 | c.*36C>A (n.*36C>A)
| gnomAD v4 |
| 8 | g.76983226T>C | CA2687718835 | PEX2 | c.*35A>G (n.*35A>G)
| gnomAD v4 |
| 8 | g.76983227G>A | CA583110958 | PEX2 | c.*34C>T (n.*34C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983227G>C | CA583110957 | PEX2 | c.*34C>G (n.*34C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983227G= | CA1795350606 | PEX2 | c.*34C= (n.*34C=)
| |
| 8 | g.76983227G>T | CA2687718836 | PEX2 | c.*34C>A (n.*34C>A)
| gnomAD v4 |
| 8 | g.76983228C>A | CA2687718837 | PEX2 | c.*33G>T (n.*33G>T)
| gnomAD v4 |
| 8 | g.76983228C= | CA1795350609 | PEX2 | c.*33G= (n.*33G=)
| |
| 8 | g.76983228C>T | CA4788625 | PEX2 | c.*33G>A (n.*33G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983229A= | CA1795350612 | PEX2 | c.*32T= (n.*32T=)
| |
| 8 | g.76983229A>C | CA855435781 | PEX2 | c.*32T>G (n.*32T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983229A>G | CA4788626 | PEX2 | c.*32T>C (n.*32T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983230T>A | CA855435794 | PEX2 | c.*31A>T (n.*31A>T)
| dbSNP |
| 8 | g.76983230T>C | CA583367321 | PEX2 | c.*31A>G (n.*31A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983230T= | CA1795350617 | PEX2 | c.*31A= (n.*31A=)
| |
| 8 | g.76983236dup | CA1795350615 | PEX2 | c.*31dup (n.*31dup)
| dbSNP gnomAD v4 |
| 8 | g.76983236del | CA583367322 | PEX2 | c.*31del (n.*31del)
| gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.76983234_76983236del | CA2687718838 | PEX2 | c.*29_*31del (n.*29_*31del)
| gnomAD v4 |
| 8 | g.76983231T>C | CA1795350621 | PEX2 | c.*30A>G (n.*30A>G)
| dbSNP gnomAD v4 |
| 8 | g.76983231T= | CA1795350619 | PEX2 | c.*30A= (n.*30A=)
| |
| 8 | g.76983231_76983232insA | CA2579209495 | PEX2 | c.*29_*30insT (n.*29_*30insT)
| gnomAD v4 |
| 8 | g.76983232T>G | CA583367323 | PEX2 | c.*29A>C (n.*29A>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983232T= | CA1795350623 | PEX2 | c.*29A= (n.*29A=)
| |
| 8 | g.76983235T>A | CA2687718839 | PEX2 | c.*26A>T (n.*26A>T)
| gnomAD v4 |
| 8 | g.76983236T>C | CA2687718840 | PEX2 | c.*25A>G (n.*25A>G)
| gnomAD v4 |
| 8 | g.76983236_76983237delinsTC | CA1795350627 | PEX2 | c.*24_*25delinsGA (n.*24_*25delinsGA)
| |
| 8 | g.76983237C= | CA1795350630 | PEX2 | c.*24G= (n.*24G=)
| |
| 8 | g.76983237C>T | CA855435799 | PEX2 | c.*24G>A (n.*24G>A)
| dbSNP gnomAD v4 |
| 8 | g.76983238del | CA4788627 | PEX2 | c.*24del (n.*24del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983237_76983244del | CA2780922297 | PEX2 | c.*17_*24del (n.*17_*24del)
| |
| 8 | g.76983237_76983245del | CA2780922300 | PEX2 | c.*16_*24del (n.*16_*24del)
| |
| 8 | g.76983237_76983246del | CA2687718842 | PEX2 | c.*15_*24del (n.*15_*24del)
| gnomAD v4 |
| 8 | g.76983237_76983251del | CA2687718841 | PEX2 | c.*10_*24del (n.*10_*24del)
| gnomAD v4 |
| 8 | g.76983238C>A | CA2579209496 | PEX2 | c.*23G>T (n.*23G>T)
| |
| 8 | g.76983239T>C | CA2780922307 | PEX2 | c.*22A>G (n.*22A>G)
| |
| 8 | g.76983239T>G | CA4788628 | PEX2 | c.*22A>C (n.*22A>C)
| dbSNP ExAC gnomAD v2 |
| 8 | g.76983239T= | CA1795350634 | PEX2 | c.*22A= (n.*22A=)
| |
| 8 | g.76983241_76983244del | CA2687718843 | PEX2 | c.*17_*20del (n.*17_*20del)
| gnomAD v4 |
| 8 | g.76983242A>G | CA2579209497 | PEX2 | c.*19T>C (n.*19T>C)
| dbSNP |
| 8 | g.76983243A= | CA1795350636 | PEX2 | c.*18T= (n.*18T=)
| |
| 8 | g.76983243A>G | CA4788629 | PEX2 | c.*18T>C (n.*18T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983244G>A | CA2687718844 | PEX2 | c.*17C>T (n.*17C>T)
| gnomAD v4 |
| 8 | g.76983244G>C | CA4788630 | PEX2 | c.*17C>G (n.*17C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983244G= | CA1795350639 | PEX2 | c.*17C= (n.*17C=)
| |
| 8 | g.76983244G>T | CA2687718845 | PEX2 | c.*17C>A (n.*17C>A)
| gnomAD v4 |
| 8 | g.76983245G>T | CA2687718846 | PEX2 | c.*16C>A (n.*16C>A)
| gnomAD v4 |
| 8 | g.76983245_76983246insTTTTTTTTTT | CA2780922308 | PEX2 | c.*15_*16insAAAAAAAAAA (n.*15_*16insAAAAAAAAAA)
| |
| 8 | g.76983246_76983247insTTTTTTTTT | CA2780922309 | PEX2 | c.*14_*15insAAAAAAAAA (n.*14_*15insAAAAAAAAA)
| |
| 8 | g.76983247A>G | CA2687718847 | PEX2 | c.*14T>C (n.*14T>C)
| gnomAD v4 |
| 8 | g.76983248G>C | CA2687718848 | PEX2 | c.*13C>G (n.*13C>G)
| gnomAD v4 |
| 8 | g.76983248G= | CA1795350642 | PEX2 | c.*13C= (n.*13C=)
| |
| 8 | g.76983248G>T | CA2687718849 | PEX2 | c.*13C>A (n.*13C>A)
| gnomAD v4 |
| 8 | g.76983249C>A | CA4788632 | PEX2 | c.*12G>T (n.*12G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983249C= | CA1795350649 | PEX2 | c.*12G= (n.*12G=)
| |
| 8 | g.76983249C>T | CA2687718850 | PEX2 | c.*12G>A (n.*12G>A)
| gnomAD v4 |
| 8 | g.76983249dup | CA4788631 | PEX2 | c.*12dup (n.*12dup)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983250A>C | CA2687718851 | PEX2 | c.*11T>G (n.*11T>G)
| gnomAD v4 |
| 8 | g.76983252T>C | CA179988248 | PEX2 | c.*9A>G (n.*9A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983252T= | CA1795350654 | PEX2 | c.*9A= (n.*9A=)
| |
| 8 | g.76983254T>C | CA1795350658 | PEX2 | c.*7A>G (n.*7A>G)
| dbSNP gnomAD v4 |
| 8 | g.76983254T= | CA1795350656 | PEX2 | c.*7A= (n.*7A=)
| |
| 8 | g.76983255T>C | CA4788633 | PEX2 | c.*6A>G (n.*6A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983255T= | CA1795350661 | PEX2 | c.*6A= (n.*6A=)
| |
| 8 | g.76983256A>T | CA2687718852 | PEX2 | c.*5T>A (n.*5T>A)
| gnomAD v4 |
| 8 | g.76983257G>A | CA2780922310 | PEX2 | c.*4C>T (n.*4C>T)
| |
| 8 | g.76983257G>T | CA2687718853 | PEX2 | c.*4C>A (n.*4C>A)
| gnomAD v4 |
| 8 | g.76983258T>C | CA4788634 | PEX2 | c.*3A>G (n.*3A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983258T= | CA1795350667 | PEX2 | c.*3A= (n.*3A=)
| |
| 8 | g.76983261C>A | CA371556279 | PEX2 | c.918G>T (p.Ter306Tyr)
| gnomAD v4 |
| 8 | g.76983261C>G | CA371556280 | PEX2 | c.918G>C (p.Ter306Tyr)
| |
| 8 | g.76983261C>T | CA461773088 | PEX2 | c.918G>A (p.Ter306=)
| dbSNP gnomAD v4 |
| 8 | g.76983262T>A | CA371556281 | PEX2 | c.917A>T (p.Ter306Leu)
| |
| 8 | g.76983262T>C | CA371556282 | PEX2 | c.917A>G (p.Ter306Trp)
| |
| 8 | g.76983262T>G | CA371556283 | PEX2 | c.917A>C (p.Ter306Ser)
| |
| 8 | g.76983263A= | CA1795350673 | PEX2 | c.916T= (p.Ter306=)
| |
| 8 | g.76983263A>C | CA371556284 | PEX2 | c.916T>G (p.Ter306Glu)
| |
| 8 | g.76983263A>G | CA371556285 | PEX2 | c.916T>C (p.Ter306Gln)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983263A>T | CA371556286 | PEX2 | c.916T>A (p.Ter306Lys)
| |
| 8 | g.76983265del | CA2687718854 | PEX2 | c.916del (p.Ter306ArgextTer3)
| gnomAD v4 |
| 8 | g.76983264A= | CA1795350678 | PEX2 | c.915T= (p.Leu305=)
| |
| 8 | g.76983264A>C | CA461773089 | PEX2 | c.915T>G (p.Leu305=)
| |
| 8 | g.76983264A>G | CA461773090 | PEX2 | c.915T>C (p.Leu305=)
| |
| 8 | g.76983264A>T | CA461773091 | PEX2 | c.915T>A (p.Leu305=)
| ClinVar dbSNP |
| 8 | g.76983265A>C | CA371556287 | PEX2 | c.914T>G (p.Leu305Arg)
| |
| 8 | g.76983265A>G | CA371556288 | PEX2 | c.914T>C (p.Leu305Pro)
| |
| 8 | g.76983265A>T | CA371556289 | PEX2 | c.914T>A (p.Leu305His)
| |
| 8 | g.76983266G>A | CA371556292 | PEX2 | c.913C>T (p.Leu305Phe)
| |
| 8 | g.76983266G>C | CA371556290 | PEX2 | c.913C>G (p.Leu305Val)
| |
| 8 | g.76983266G>T | CA371556291 | PEX2 | c.913C>A (p.Leu305Ile)
| |
| 8 | g.76983267A= | CA1795350682 | PEX2 | c.912T= (p.Ala304=)
| |
| 8 | g.76983267A>C | CA461773093 | PEX2 | c.912T>G (p.Ala304=)
| |
| 8 | g.76983267A>G | CA179988249 | PEX2 | c.912T>C (p.Ala304=)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983267A>T | CA461773092 | PEX2 | c.912T>A (p.Ala304=)
| |
| 8 | g.76983268G>A | CA4788635 | PEX2 | c.911C>T (p.Ala304Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983268G>C | CA371556293 | PEX2 | c.911C>G (p.Ala304Gly)
| |
| 8 | g.76983268G= | CA1795350685 | PEX2 | c.911C= (p.Ala304=)
| |
| 8 | g.76983268G>T | CA371556294 | PEX2 | c.911C>A (p.Ala304Asp)
| |
| 8 | g.76983269C>A | CA371556295 | PEX2 | c.910G>T (p.Ala304Ser)
| |
| 8 | g.76983269C= | CA1795350688 | PEX2 | c.910G= (p.Ala304=)
| |
| 8 | g.76983269C>G | CA371556296 | PEX2 | c.910G>C (p.Ala304Pro)
| |
| 8 | g.76983269C>T | CA371556297 | PEX2 | c.910G>A (p.Ala304Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983270A>C | CA371556298 | PEX2 | c.909T>G (p.Asn303Lys)
| |
| 8 | g.76983270A>G | CA461773094 | PEX2 | c.909T>C (p.Asn303=)
| gnomAD v4 |
| 8 | g.76983270A>T | CA371556299 | PEX2 | c.909T>A (p.Asn303Lys)
| |
| 8 | g.76983271T>A | CA371556300 | PEX2 | c.908A>T (p.Asn303Ile)
| |
| 8 | g.76983271T>C | CA179988250 | PEX2 | c.908A>G (p.Asn303Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983271T>G | CA371556301 | PEX2 | c.908A>C (p.Asn303Thr)
| |
| 8 | g.76983271T= | CA1795350695 | PEX2 | c.908A= (p.Asn303=)
| |
| 8 | g.76983272T>A | CA371556304 | PEX2 | c.907A>T (p.Asn303Tyr)
| |
| 8 | g.76983272T>C | CA371556303 | PEX2 | c.907A>G (p.Asn303Asp)
| |
| 8 | g.76983272T>G | CA371556302 | PEX2 | c.907A>C (p.Asn303His)
| |
