| 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)
| |
| 8 | g.76983273T>A | CA461773095 | PEX2 | c.906A>T (p.Val302=)
| |
| 8 | g.76983273T>C | CA461773096 | PEX2 | c.906A>G (p.Val302=)
| |
| 8 | g.76983273T>G | CA461773097 | PEX2 | c.906A>C (p.Val302=)
| |
| 8 | g.76983274A>C | CA371556305 | PEX2 | c.905T>G (p.Val302Gly)
| |
| 8 | g.76983274A>G | CA371556306 | PEX2 | c.905T>C (p.Val302Ala)
| |
| 8 | g.76983274A>T | CA371556307 | PEX2 | c.905T>A (p.Val302Glu)
| |
| 8 | g.76983275C>A | CA371556308 | PEX2 | c.904G>T (p.Val302Leu)
| |
| 8 | g.76983275C>G | CA371556309 | PEX2 | c.904G>C (p.Val302Leu)
| |
| 8 | g.76983275C>T | CA371556310 | PEX2 | c.904G>A (p.Val302Ile)
| COSMIC |
| 8 | g.76983276T>A | CA371556311 | PEX2 | c.903A>T (p.Glu301Asp)
| |
| 8 | g.76983276T>C | CA461773098 | PEX2 | c.903A>G (p.Glu301=)
| |
| 8 | g.76983276T>G | CA371556312 | PEX2 | c.903A>C (p.Glu301Asp)
| |
| 8 | g.76983276T= | CA1795350698 | PEX2 | c.903A= (p.Glu301=)
| |
| 8 | g.76983277T>A | CA371556313 | PEX2 | c.902A>T (p.Glu301Val)
| |
| 8 | g.76983277T>C | CA371556314 | PEX2 | c.902A>G (p.Glu301Gly)
| |
| 8 | g.76983277T>G | CA371556315 | PEX2 | c.902A>C (p.Glu301Ala)
| |
| 8 | g.76983277_76983281dup | CA4788636 | PEX2 | c.898_902dup (p.Glu301AspfsTer4)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983278C>A | CA371556318 | PEX2 | c.901G>T (p.Glu301Ter)
| |
| 8 | g.76983278C>G | CA371556317 | PEX2 | c.901G>C (p.Glu301Gln)
| |
| 8 | g.76983278C>T | CA371556316 | PEX2 | c.901G>A (p.Glu301Lys)
| |
| 8 | g.76983279T>A | CA461773099 | PEX2 | c.900A>T (p.Ser300=)
| |
| 8 | g.76983279T>C | CA461773100 | PEX2 | c.900A>G (p.Ser300=)
| |
| 8 | g.76983279T>G | CA461773101 | PEX2 | c.900A>C (p.Ser300=)
| |
| 8 | g.76983280G>A | CA371556319 | PEX2 | c.899C>T (p.Ser300Leu)
| |
| 8 | g.76983280G>C | CA371556320 | PEX2 | c.899C>G (p.Ser300Ter)
| |
| 8 | g.76983280G>T | CA371556321 | PEX2 | c.899C>A (p.Ser300Ter)
| |
| 8 | g.76983281A>C | CA371556322 | PEX2 | c.898T>G (p.Ser300Ala)
| |
| 8 | g.76983281A>G | CA371556323 | PEX2 | c.898T>C (p.Ser300Pro)
| |
| 8 | g.76983281A>T | CA371556324 | PEX2 | c.898T>A (p.Ser300Thr)
| |
| 8 | g.76983282C>A | CA371556325 | PEX2 | c.897G>T (p.Met299Ile)
| |
| 8 | g.76983282C= | CA1795350707 | PEX2 | c.897G= (p.Met299=)
| |
| 8 | g.76983282C>G | CA371556326 | PEX2 | c.897G>C (p.Met299Ile)
| |
| 8 | g.76983282C>T | CA371556327 | PEX2 | c.897G>A (p.Met299Ile)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983283A>C | CA371556328 | PEX2 | c.896T>G (p.Met299Arg)
| |
| 8 | g.76983283A>G | CA371556329 | PEX2 | c.896T>C (p.Met299Thr)
| |
| 8 | g.76983283A>T | CA371556330 | PEX2 | c.896T>A (p.Met299Lys)
| |
| 8 | g.76983284T>A | CA371556333 | PEX2 | c.895A>T (p.Met299Leu)
| |
| 8 | g.76983284T>C | CA371556332 | PEX2 | c.895A>G (p.Met299Val)
| |
| 8 | g.76983284T>G | CA371556331 | PEX2 | c.895A>C (p.Met299Leu)
| |
| 8 | g.76983285C>A | CA371556334 | PEX2 | c.894G>T (p.Glu298Asp)
| |
| 8 | g.76983285C= | CA1795350711 | PEX2 | c.894G= (p.Glu298=)
| |
| 8 | g.76983285C>G | CA371556335 | PEX2 | c.894G>C (p.Glu298Asp)
| |
| 8 | g.76983285C>T | CA461773102 | PEX2 | c.894G>A (p.Glu298=)
| dbSNP |
| 8 | g.76983286T>A | CA371556336 | PEX2 | c.893A>T (p.Glu298Val)
| |
| 8 | g.76983286T>C | CA371556338 | PEX2 | c.893A>G (p.Glu298Gly)
| |
| 8 | g.76983286T>G | CA371556337 | PEX2 | c.893A>C (p.Glu298Ala)
| |
| 8 | g.76983287C>A | CA371556339 | PEX2 | c.892G>T (p.Glu298Ter)
| gnomAD v4 |
| 8 | g.76983287C= | CA1795350718 | PEX2 | c.892G= (p.Glu298=)
| |
| 8 | g.76983287C>G | CA371556340 | PEX2 | c.892G>C (p.Glu298Gln)
| gnomAD v4 |
| 8 | g.76983287C>T | CA4788637 | PEX2 | c.892G>A (p.Glu298Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.76983288G>A | CA179988251 | PEX2 | c.891C>T (p.Ile297=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983288G>C | CA371556341 | PEX2 | c.891C>G (p.Ile297Met)
| ClinVar gnomAD v4 |
| 8 | g.76983288G= | CA1795350721 | PEX2 | c.891C= (p.Ile297=)
| |
| 8 | g.76983288G>T | CA461773103 | PEX2 | c.891C>A (p.Ile297=)
| |
| 8 | g.76983289A>C | CA371556342 | PEX2 | c.890T>G (p.Ile297Ser)
| |
| 8 | g.76983289A>G | CA371556343 | PEX2 | c.890T>C (p.Ile297Thr)
| |
| 8 | g.76983289A>T | CA371556344 | PEX2 | c.890T>A (p.Ile297Asn)
| |
| 8 | g.76983290T>A | CA371556345 | PEX2 | c.889A>T (p.Ile297Phe)
| |
| 8 | g.76983290T>C | CA371556346 | PEX2 | c.889A>G (p.Ile297Val)
| |
| 8 | g.76983290T>G | CA371556347 | PEX2 | c.889A>C (p.Ile297Leu)
| |
| 8 | g.76983291T>A | CA461773104 | PEX2 | c.888A>T (p.Gly296=)
| |
| 8 | g.76983291T>C | CA461773105 | PEX2 | c.888A>G (p.Gly296=)
| |
| 8 | g.76983291T>G | CA461773106 | PEX2 | c.888A>C (p.Gly296=)
| |
| 8 | g.76983292C>A | CA371556348 | PEX2 | c.887G>T (p.Gly296Val)
| dbSNP gnomAD v4 |
| 8 | g.76983292C= | CA1795350724 | PEX2 | c.887G= (p.Gly296=)
| |
| 8 | g.76983292C>G | CA371556349 | PEX2 | c.887G>C (p.Gly296Ala)
| |
| 8 | g.76983292C>T | CA371556350 | PEX2 | c.887G>A (p.Gly296Glu)
| dbSNP |
| 8 | g.76983293C>A | CA371556353 | PEX2 | c.886G>T (p.Gly296Ter)
| |
| 8 | g.76983293C>G | CA371556352 | PEX2 | c.886G>C (p.Gly296Arg)
| |
| 8 | g.76983293C>T | CA371556351 | PEX2 | c.886G>A (p.Gly296Arg)
| gnomAD v4 |
| 8 | g.76983294T>A | CA461773107 | PEX2 | c.885A>T (p.Ser295=)
| |
| 8 | g.76983294T>C | CA179988252 | PEX2 | c.885A>G (p.Ser295=)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983294T>G | CA461773108 | PEX2 | c.885A>C (p.Ser295=)
| |
| 8 | g.76983294T= | CA1795350728 | PEX2 | c.885A= (p.Ser295=)
| |
| 8 | g.76983295G>A | CA371556354 | PEX2 | c.884C>T (p.Ser295Leu)
| ClinVar gnomAD v4 |
| 8 | g.76983295G>C | CA371556355 | PEX2 | c.884C>G (p.Ser295Ter)
| ClinVar dbSNP |
| 8 | g.76983295G= | CA1795350733 | PEX2 | c.884C= (p.Ser295=)
| |
| 8 | g.76983295G>T | CA371556356 | PEX2 | c.884C>A (p.Ser295Ter)
| |
| 8 | g.76983296A>C | CA371556357 | PEX2 | c.883T>G (p.Ser295Ala)
| |
| 8 | g.76983296A>G | CA371556358 | PEX2 | c.883T>C (p.Ser295Pro)
| gnomAD v4 |
| 8 | g.76983296A>T | CA371556359 | PEX2 | c.883T>A (p.Ser295Thr)
| |
| 8 | g.76983297T>A | CA371556360 | PEX2 | c.882A>T (p.Lys294Asn)
| |
| 8 | g.76983297T>C | CA461773109 | PEX2 | c.882A>G (p.Lys294=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983297T>G | CA371556361 | PEX2 | c.882A>C (p.Lys294Asn)
| |
| 8 | g.76983297T= | CA1795350737 | PEX2 | c.882A= (p.Lys294=)
| |
| 8 | g.76983298T>A | CA371556362 | PEX2 | c.881A>T (p.Lys294Ile)
| |
| 8 | g.76983298T>C | CA371556363 | PEX2 | c.881A>G (p.Lys294Arg)
| |
| 8 | g.76983298T>G | CA371556364 | PEX2 | c.881A>C (p.Lys294Thr)
| ClinVar dbSNP |
| 8 | g.76983299T>A | CA371556367 | PEX2 | c.880A>T (p.Lys294Ter)
| |
| 8 | g.76983299T>C | CA371556366 | PEX2 | c.880A>G (p.Lys294Glu)
| gnomAD v4 |
| 8 | g.76983299T>G | CA371556365 | PEX2 | c.880A>C (p.Lys294Gln)
| gnomAD v4 |
| 8 | g.76983300C>A | CA461773112 | PEX2 | c.879G>T (p.Leu293=)
| |
| 8 | g.76983300C>G | CA461773111 | PEX2 | c.879G>C (p.Leu293=)
| |
| 8 | g.76983300C>T | CA461773110 | PEX2 | c.879G>A (p.Leu293=)
| |
| 8 | g.76983301A>C | CA371556368 | PEX2 | c.878T>G (p.Leu293Arg)
| |
| 8 | g.76983301A>G | CA371556369 | PEX2 | c.878T>C (p.Leu293Pro)
| |
| 8 | g.76983301A>T | CA371556370 | PEX2 | c.878T>A (p.Leu293Gln)
| |
| 8 | g.76983302G>A | CA461773113 | PEX2 | c.877C>T (p.Leu293=)
| |
| 8 | g.76983302G>C | CA371556371 | PEX2 | c.877C>G (p.Leu293Val)
| |
| 8 | g.76983302G>T | CA371556372 | PEX2 | c.877C>A (p.Leu293Met)
| |
| 8 | g.76983303T>A | CA461773116 | PEX2 | c.876A>T (p.Pro292=)
| |
| 8 | g.76983303T>C | CA461773115 | PEX2 | c.876A>G (p.Pro292=)
| |
| 8 | g.76983303T>G | CA461773114 | PEX2 | c.876A>C (p.Pro292=)
| |
| 8 | g.76983304G>A | CA371556373 | PEX2 | c.875C>T (p.Pro292Leu)
| ClinVar dbSNP |
| 8 | g.76983304G>C | CA371556374 | PEX2 | c.875C>G (p.Pro292Arg)
| |
| 8 | g.76983304G>T | CA371556375 | PEX2 | c.875C>A (p.Pro292Gln)
| |
| 8 | g.76983305G>A | CA371556376 | PEX2 | c.874C>T (p.Pro292Ser)
| |
| 8 | g.76983305G>C | CA371556377 | PEX2 | c.874C>G (p.Pro292Ala)
| |
| 8 | g.76983305G>T | CA371556378 | PEX2 | c.874C>A (p.Pro292Thr)
| |
| 8 | g.76983306C>A | CA371556379 | PEX2 | c.873G>T (p.Gln291His)
| |
| 8 | g.76983306C>G | CA371556380 | PEX2 | c.873G>C (p.Gln291His)
| |
| 8 | g.76983306C>T | CA461773117 | PEX2 | c.873G>A (p.Gln291=)
| gnomAD v4 |
| 8 | g.76983307T>A | CA371556381 | PEX2 | c.872A>T (p.Gln291Leu)
| |
| 8 | g.76983307T>C | CA371556383 | PEX2 | c.872A>G (p.Gln291Arg)
| gnomAD v4 |
| 8 | g.76983307T>G | CA371556382 | PEX2 | c.872A>C (p.Gln291Pro)
| |
| 8 | g.76983308G>A | CA371556384 | PEX2 | c.871C>T (p.Gln291Ter)
| |
| 8 | g.76983308G>C | CA371556385 | PEX2 | c.871C>G (p.Gln291Glu)
| |
| 8 | g.76983308G>T | CA371556386 | PEX2 | c.871C>A (p.Gln291Lys)
| |
| 8 | g.76983309C>A | CA461773118 | PEX2 | c.870G>T (p.Leu290=)
| |
| 8 | g.76983309C= | CA1795350743 | PEX2 | c.870G= (p.Leu290=)
| |
| 8 | g.76983309C>G | CA4788638 | PEX2 | c.870G>C (p.Leu290=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983309C>T | CA461773119 | PEX2 | c.870G>A (p.Leu290=)
| |
| 8 | g.76983310A= | CA1795350746 | PEX2 | c.869T= (p.Leu290=)
| |
| 8 | g.76983310A>C | CA4788639 | PEX2 | c.869T>G (p.Leu290Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983310A>G | CA371556387 | PEX2 | c.869T>C (p.Leu290Pro)
| |
| 8 | g.76983310A>T | CA371556388 | PEX2 | c.869T>A (p.Leu290Gln)
| |
| 8 | g.76983311G>A | CA461773120 | PEX2 | c.868C>T (p.Leu290=)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983311G>C | CA371556389 | PEX2 | c.868C>G (p.Leu290Val)
| |
| 8 | g.76983311G>T | CA371556390 | PEX2 | c.868C>A (p.Leu290Met)
| |
| 8 | g.76983312A>C | CA371556391 | PEX2 | c.867T>G (p.Ser289Arg)
| gnomAD v4 |
| 8 | g.76983312A>G | CA461773121 | PEX2 | c.867T>C (p.Ser289=)
| |
| 8 | g.76983312A>T | CA371556392 | PEX2 | c.867T>A (p.Ser289Arg)
| |
| 8 | g.76983312_76983313insT | CA2695209858 | PEX2 | c.866_867insA (p.Ser289ArgfsTer?)
| |
| 8 | g.76983313C>A | CA371556394 | PEX2 | c.866G>T (p.Ser289Ile)
| |
| 8 | g.76983313C= | CA1795350748 | PEX2 | c.866G= (p.Ser289=)
| |
| 8 | g.76983313C>G | CA371556395 | PEX2 | c.866G>C (p.Ser289Thr)
| |
| 8 | g.76983313C>T | CA371556393 | PEX2 | c.866G>A (p.Ser289Asn)
| ClinVar |
| 8 | g.76983314T>A | CA371556396 | PEX2 | c.865A>T (p.Ser289Cys)
| |
| 8 | g.76983314T>C | CA371556397 | PEX2 | c.865A>G (p.Ser289Gly)
| ClinVar dbSNP |
| 8 | g.76983314T>G | CA371556398 | PEX2 | c.865A>C (p.Ser289Arg)
| |
| 8 | g.76983314T= | CA1795350757 | PEX2 | c.865A= (p.Ser289=)
| |
| 8 | g.76983314dup | CA175083 | PEX2 | c.865dup (p.Ser289LysfsTer?)
| ClinVar dbSNP gnomAD v2 |
| 8 | g.76983315G>A | CA461773122 | PEX2 | c.864C>T (p.His288=)
| ClinVar gnomAD v4 |
| 8 | g.76983315G>C | CA4788640 | PEX2 | c.864C>G (p.His288Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983315G= | CA1795350764 | PEX2 | c.864C= (p.His288=)
| |
| 8 | g.76983315G>T | CA371556399 | PEX2 | c.864C>A (p.His288Gln)
| |
| 8 | g.76983316T>A | CA371556402 | PEX2 | c.863A>T (p.His288Leu)
| |
| 8 | g.76983316T>C | CA371556401 | PEX2 | c.863A>G (p.His288Arg)
| dbSNP |
| 8 | g.76983316T>G | CA371556400 | PEX2 | c.863A>C (p.His288Pro)
| gnomAD v4 |
| 8 | g.76983316T= | CA1795350772 | PEX2 | c.863A= (p.His288=)
| |
