22 | g.18079935C>A | CA512915339 | PEX26 | c.292C>A (p.Arg98=)
| |
22 | g.18079935C= | CA2395403463 | PEX26 | c.292C= (p.Arg98=)
| |
22 | g.18079935C>G | CA410265690 | PEX26 | c.292C>G (p.Arg98Gly)
| dbSNP |
22 | g.18079935C>T | CA115367 | PEX26 | c.292C>T (p.Arg98Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.18079936G>A | CA10093282 | PEX26 | c.293G>A (p.Arg98Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18079936G>C | CA410265691 | PEX26 | c.293G>C (p.Arg98Pro)
| |
22 | g.18079936G= | CA2395403464 | PEX26 | c.293G= (p.Arg98=)
| |
22 | g.18079936G>T | CA410265692 | PEX26 | c.293G>T (p.Arg98Leu)
| |
22 | g.18079937del | CA2577641464 | PEX26 | c.294del (p.Trp99GlyfsTer?)
| |
22 | g.18079937G>A | CA512915340 | PEX26 | c.294G>A (p.Arg98=)
| |
22 | g.18079937G>C | CA512915341 | PEX26 | c.294G>C (p.Arg98=)
| |
22 | g.18079937G>T | CA512915342 | PEX26 | c.294G>T (p.Arg98=)
| |
22 | g.18079938T>A | CA10093283 | PEX26 | c.295T>A (p.Trp99Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079938T>C | CA410265693 | PEX26 | c.295T>C (p.Trp99Arg)
| |
22 | g.18079938T>G | CA410265694 | PEX26 | c.295T>G (p.Trp99Gly)
| |
22 | g.18079938T= | CA2395403465 | PEX26 | c.295T= (p.Trp99=)
| |
22 | g.18079939G>A | CA16044303 | PEX26 | c.296G>A (p.Trp99Ter)
| ClinVar dbSNP |
22 | g.18079939G>C | CA10093284 | PEX26 | c.296G>C (p.Trp99Ser)
| dbSNP ExAC gnomAD v2 |
22 | g.18079939G= | CA2395403466 | PEX26 | c.296G= (p.Trp99=)
| |
22 | g.18079939G>T | CA410265695 | PEX26 | c.296G>T (p.Trp99Leu)
| |
22 | g.18079940del | CA2655186601 | PEX26 | c.297del (p.Trp99CysfsTer?)
| gnomAD v4 |
22 | g.18079940G>A | CA410265696 | PEX26 | c.297G>A (p.Trp99Ter)
| ClinVar |
22 | g.18079940G>C | CA410265697 | PEX26 | c.297G>C (p.Trp99Cys)
| |
22 | g.18079940G>T | CA410265698 | PEX26 | c.297G>T (p.Trp99Cys)
| gnomAD v4 |
22 | g.18079941C>A | CA410265699 | PEX26 | c.298C>A (p.Gln100Lys)
| |
22 | g.18079941C= | CA2395403467 | PEX26 | c.298C= (p.Gln100=)
| |
22 | g.18079941C>G | CA410265700 | PEX26 | c.298C>G (p.Gln100Glu)
| |
22 | g.18079941C>T | CA321285437 | PEX26 | c.298C>T (p.Gln100Ter)
| ClinVar dbSNP gnomAD v4 |
22 | g.18079942A>C | CA410265701 | PEX26 | c.299A>C (p.Gln100Pro)
| |
22 | g.18079942A>G | CA410265702 | PEX26 | c.299A>G (p.Gln100Arg)
| |
22 | g.18079942A>T | CA410265703 | PEX26 | c.299A>T (p.Gln100Leu)
| |
22 | g.18079943A>C | CA410265704 | PEX26 | c.300A>C (p.Gln100His)
| gnomAD v4 |
22 | g.18079943A>G | CA512915344 | PEX26 | c.300A>G (p.Gln100=)
| gnomAD v4 |
22 | g.18079943A>T | CA410265705 | PEX26 | c.300A>T (p.Gln100His)
| |
22 | g.18079944G>A | CA410265708 | PEX26 | c.301G>A (p.Glu101Lys)
| |
22 | g.18079944G>C | CA410265707 | PEX26 | c.301G>C (p.Glu101Gln)
| |
22 | g.18079944G>T | CA410265706 | PEX26 | c.301G>T (p.Glu101Ter)
| |
22 | g.18079945A= | CA2395403468 | PEX26 | c.302A= (p.Glu101=)
| |
22 | g.18079945A>C | CA410265711 | PEX26 | c.302A>C (p.Glu101Ala)
| |
22 | g.18079945A>G | CA410265709 | PEX26 | c.302A>G (p.Glu101Gly)
| |
22 | g.18079945A>T | CA410265710 | PEX26 | c.302A>T (p.Glu101Val)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18079946A>C | CA410265712 | PEX26 | c.303A>C (p.Glu101Asp)
| |
22 | g.18079946A>G | CA512915345 | PEX26 | c.303A>G (p.Glu101=)
| |
22 | g.18079946A>T | CA410265713 | PEX26 | c.303A>T (p.Glu101Asp)
| |
22 | g.18079947G>A | CA410265714 | PEX26 | c.304G>A (p.Val102Ile)
| |
22 | g.18079947G>C | CA410265715 | PEX26 | c.304G>C (p.Val102Leu)
| |
22 | g.18079947G= | CA2395403469 | PEX26 | c.304G= (p.Val102=)
| |
22 | g.18079947G>T | CA410265716 | PEX26 | c.304G>T (p.Val102Phe)
| dbSNP |
22 | g.18079948T>A | CA410265717 | PEX26 | c.305T>A (p.Val102Asp)
| |
22 | g.18079948T>C | CA410265719 | PEX26 | c.305T>C (p.Val102Ala)
| ClinVar |
22 | g.18079948T>G | CA410265718 | PEX26 | c.305T>G (p.Val102Gly)
| |
22 | g.18079949C>A | CA512915348 | PEX26 | c.306C>A (p.Val102=)
| ClinVar gnomAD v4 |
22 | g.18079949C>G | CA512915346 | PEX26 | c.306C>G (p.Val102=)
| |
22 | g.18079949C>T | CA512915347 | PEX26 | c.306C>T (p.Val102=)
| |
22 | g.18079949_18079951delinsCCT | CA2395403470 | PEX26 | c.306_308delinsCCT (p.Val102=)
| |
22 | g.18079950C>A | CA410265720 | PEX26 | c.307C>A (p.Leu103Ile)
| |
22 | g.18079950C>G | CA410265721 | PEX26 | c.307C>G (p.Leu103Val)
| |
22 | g.18079950C>T | CA410265722 | PEX26 | c.307C>T (p.Leu103Phe)
| COSMIC |
22 | g.18079953_18079954del | CA10093285 | PEX26 | c.310_311del (p.Ser104LeufsTer10)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18079951T>A | CA410265723 | PEX26 | c.308T>A (p.Leu103His)
| |
22 | g.18079951T>C | CA410265725 | PEX26 | c.308T>C (p.Leu103Pro)
| |
22 | g.18079951T>G | CA410265724 | PEX26 | c.308T>G (p.Leu103Arg)
| |
22 | g.18079952C>A | CA512915349 | PEX26 | c.309C>A (p.Leu103=)
| |
22 | g.18079952C>G | CA512915350 | PEX26 | c.309C>G (p.Leu103=)
| |
22 | g.18079952C>T | CA512915351 | PEX26 | c.309C>T (p.Leu103=)
| |
22 | g.18079953T>A | CA10093286 | PEX26 | c.310T>A (p.Ser104Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079953T>C | CA410265726 | PEX26 | c.310T>C (p.Ser104Pro)
| |
22 | g.18079953T>G | CA410265727 | PEX26 | c.310T>G (p.Ser104Ala)
| |
22 | g.18079953T= | CA2395403471 | PEX26 | c.310T= (p.Ser104=)
| |
22 | g.18079954C>A | CA410265728 | PEX26 | c.311C>A (p.Ser104Tyr)
| |
22 | g.18079954C>G | CA410265729 | PEX26 | c.311C>G (p.Ser104Cys)
| |
22 | g.18079954C>T | CA410265730 | PEX26 | c.311C>T (p.Ser104Phe)
| |
22 | g.18079955C>A | CA512915352 | PEX26 | c.312C>A (p.Ser104=)
| |
22 | g.18079955C= | CA2395403472 | PEX26 | c.312C= (p.Ser104=)
| |
22 | g.18079955C>G | CA512915353 | PEX26 | c.312C>G (p.Ser104=)
| |
22 | g.18079955C>T | CA512915354 | PEX26 | c.312C>T (p.Ser104=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079956T>A | CA410265731 | PEX26 | c.313T>A (p.Trp105Arg)
| |
22 | g.18079956T>C | CA410265732 | PEX26 | c.313T>C (p.Trp105Arg)
| gnomAD v4 |
22 | g.18079956T>G | CA410265733 | PEX26 | c.313T>G (p.Trp105Gly)
| |
22 | g.18079957G>A | CA410265734 | PEX26 | c.314G>A (p.Trp105Ter)
| gnomAD v4 |
22 | g.18079957G>C | CA410265735 | PEX26 | c.314G>C (p.Trp105Ser)
| |
22 | g.18079957G>T | CA410265736 | PEX26 | c.314G>T (p.Trp105Leu)
| gnomAD v4 |
22 | g.18079958G>A | CA410265738 | PEX26 | c.315G>A (p.Trp105Ter)
| |
22 | g.18079958G>C | CA410265739 | PEX26 | c.315G>C (p.Trp105Cys)
| |
22 | g.18079958G>T | CA410265737 | PEX26 | c.315G>T (p.Trp105Cys)
| |
22 | g.18079959G>A | CA410265740 | PEX26 | c.316G>A (p.Val106Ile)
| gnomAD v4 |
22 | g.18079959G>C | CA410265742 | PEX26 | c.316G>C (p.Val106Leu)
| |
22 | g.18079959G>T | CA410265741 | PEX26 | c.316G>T (p.Val106Phe)
| |
22 | g.18079960T>A | CA410265743 | PEX26 | c.317T>A (p.Val106Asp)
| |
22 | g.18079960T>C | CA410265744 | PEX26 | c.317T>C (p.Val106Ala)
| |
22 | g.18079960T>G | CA410265745 | PEX26 | c.317T>G (p.Val106Gly)
| |
22 | g.18079961C>A | CA512915355 | PEX26 | c.318C>A (p.Val106=)
| |
22 | g.18079961C= | CA2395403473 | PEX26 | c.318C= (p.Val106=)
| |
22 | g.18079961C>G | CA10093287 | PEX26 | c.318C>G (p.Val106=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079961C>T | CA512915356 | PEX26 | c.318C>T (p.Val106=)
| |
22 | g.18079962C>A | CA410265746 | PEX26 | c.319C>A (p.Leu107Ile)
| |
22 | g.18079962C= | CA2395403474 | PEX26 | c.319C= (p.Leu107=)
| |
22 | g.18079962C>G | CA410265747 | PEX26 | c.319C>G (p.Leu107Val)
| |
22 | g.18079962C>T | CA410265748 | PEX26 | c.319C>T (p.Leu107Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079963T>A | CA410265749 | PEX26 | c.320T>A (p.Leu107His)
| |
22 | g.18079963T>C | CA410265750 | PEX26 | c.320T>C (p.Leu107Pro)
| |
22 | g.18079963T>G | CA410265751 | PEX26 | c.320T>G (p.Leu107Arg)
| |
22 | g.18079964T>A | CA512915360 | PEX26 | c.321T>A (p.Leu107=)
| |
22 | g.18079964T>C | CA512915361 | PEX26 | c.321T>C (p.Leu107=)
| |
22 | g.18079964T>G | CA512915362 | PEX26 | c.321T>G (p.Leu107=)
| |
22 | g.18079965C>A | CA410265752 | PEX26 | c.322C>A (p.Gln108Lys)
| |
22 | g.18079965C>G | CA410265753 | PEX26 | c.322C>G (p.Gln108Glu)
| |
22 | g.18079965C>T | CA410265754 | PEX26 | c.322C>T (p.Gln108Ter)
| |
22 | g.18079966A>C | CA410265756 | PEX26 | c.323A>C (p.Gln108Pro)
| |
22 | g.18079966A>G | CA410265760 | PEX26 | c.323A>G (p.Gln108Arg)
| gnomAD v4 |
22 | g.18079966A>T | CA410265758 | PEX26 | c.323A>T (p.Gln108Leu)
| |
22 | g.18079967G>A | CA512915365 | PEX26 | c.324G>A (p.Gln108=)
| ClinVar dbSNP |
22 | g.18079967G>C | CA410265764 | PEX26 | c.324G>C (p.Gln108His)
| |
22 | g.18079967G= | CA2395403475 | PEX26 | c.324G= (p.Gln108=)
| |
22 | g.18079967G>T | CA410265765 | PEX26 | c.324G>T (p.Gln108His)
| |
22 | g.18079968T>A | CA410265768 | PEX26 | c.325T>A (p.Tyr109Asn)
| |
22 | g.18079968T>C | CA10093288 | PEX26 | c.325T>C (p.Tyr109His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079968T>G | CA10093289 | PEX26 | c.325T>G (p.Tyr109Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18079968T= | CA2395403476 | PEX26 | c.325T= (p.Tyr109=)
| |
22 | g.18079969A>C | CA410265773 | PEX26 | c.326A>C (p.Tyr109Ser)
| |
22 | g.18079969A>G | CA410265776 | PEX26 | c.326A>G (p.Tyr109Cys)
| |
22 | g.18079969A>T | CA410265778 | PEX26 | c.326A>T (p.Tyr109Phe)
| |
22 | g.18079970T>A | CA410265780 | PEX26 | c.327T>A (p.Tyr109Ter)
| |
22 | g.18079970T>C | CA512915367 | PEX26 | c.327T>C (p.Tyr109=)
| |
22 | g.18079970T>G | CA410265783 | PEX26 | c.327T>G (p.Tyr109Ter)
| |
22 | g.18079971T>A | CA410265790 | PEX26 | c.328T>A (p.Tyr110Asn)
| |
22 | g.18079971T>C | CA410265789 | PEX26 | c.328T>C (p.Tyr110His)
| |
22 | g.18079971T>G | CA410265786 | PEX26 | c.328T>G (p.Tyr110Asp)
| |
22 | g.18079971_18079973delinsTAC | CA2395403477 | PEX26 | c.328_330delinsTAC (p.Tyr110=)
| |
22 | g.18079972A>C | CA410265793 | PEX26 | c.329A>C (p.Tyr110Ser)
| gnomAD v4 |
22 | g.18079972A>G | CA410265794 | PEX26 | c.329A>G (p.Tyr110Cys)
| |
22 | g.18079972A>T | CA410265797 | PEX26 | c.329A>T (p.Tyr110Phe)
| |
22 | g.18079972_18079973del | CA10093290 | PEX26 | c.329_330del (p.Tyr110SerfsTer4)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18079973C>A | CA410265798 | PEX26 | c.330C>A (p.Tyr110Ter)
| |
22 | g.18079973C= | CA2395403478 | PEX26 | c.330C= (p.Tyr110=)
| |
22 | g.18079973C>G | CA410265801 | PEX26 | c.330C>G (p.Tyr110Ter)
| ClinVar gnomAD v4 |
22 | g.18079973C>T | CA512915371 | PEX26 | c.330C>T (p.Tyr110=)
| dbSNP |
22 | g.18079974C>A | CA10093291 | PEX26 | c.331C>A (p.Gln111Lys)
| ClinVar dbSNP ExAC gnomAD v2 |
22 | g.18079974C= | CA2395403479 | PEX26 | c.331C= (p.Gln111=)
| |
22 | g.18079974C>G | CA410265804 | PEX26 | c.331C>G (p.Gln111Glu)
| |
22 | g.18079974C>T | CA410265806 | PEX26 | c.331C>T (p.Gln111Ter)
| |
22 | g.18079975A= | CA2395403480 | PEX26 | c.332A= (p.Gln111=)
| |
22 | g.18079975A>C | CA410265811 | PEX26 | c.332A>C (p.Gln111Pro)
| |
22 | g.18079975A>G | CA410265812 | PEX26 | c.332A>G (p.Gln111Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079975A>T | CA410265815 | PEX26 | c.332A>T (p.Gln111Leu)
| |
22 | g.18079976G>A | CA321285496 | PEX26 | c.333G>A (p.Gln111=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079976G>C | CA410265818 | PEX26 | c.333G>C (p.Gln111His)
| dbSNP |
22 | g.18079976G= | CA2395403481 | PEX26 | c.333G= (p.Gln111=)
| |
22 | g.18079976G>T | CA410265820 | PEX26 | c.333G>T (p.Gln111His)
| ClinVar |
22 | g.18079977G>A | CA410265824 | PEX26 | c.334G>A (p.Val112Ile)
| |
22 | g.18079977G>C | CA410265828 | PEX26 | c.334G>C (p.Val112Leu)
| ClinVar dbSNP gnomAD v4 |
22 | g.18079977G= | CA2395403482 | PEX26 | c.334G= (p.Val112=)
| |
22 | g.18079977G>T | CA410265826 | PEX26 | c.334G>T (p.Val112Phe)
| |
22 | g.18079978T>A | CA410265830 | PEX26 | c.335T>A (p.Val112Asp)
| |
22 | g.18079978T>C | CA410265833 | PEX26 | c.335T>C (p.Val112Ala)
| |
22 | g.18079978T>G | CA410265835 | PEX26 | c.335T>G (p.Val112Gly)
| |
22 | g.18079979C>A | CA512915372 | PEX26 | c.336C>A (p.Val112=)
| |
22 | g.18079979C= | CA2395403483 | PEX26 | c.336C= (p.Val112=)
| |
22 | g.18079979C>G | CA512915373 | PEX26 | c.336C>G (p.Val112=)
| |
22 | g.18079979C>T | CA10093292 | PEX26 | c.336C>T (p.Val112=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18079980C>A | CA410265841 | PEX26 | c.337C>A (p.Pro113Thr)
| |
22 | g.18079980C= | CA2395403484 | PEX26 | c.337C= (p.Pro113=)
| |
22 | g.18079980C>G | CA410265843 | PEX26 | c.337C>G (p.Pro113Ala)
| |
22 | g.18079980C>T | CA410265845 | PEX26 | c.337C>T (p.Pro113Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079981C>A | CA410265848 | PEX26 | c.338C>A (p.Pro113His)
| |
22 | g.18079981C= | CA2395403485 | PEX26 | c.338C= (p.Pro113=)
| |
22 | g.18079981C>G | CA410265850 | PEX26 | c.338C>G (p.Pro113Arg)
| |
22 | g.18079981C>T | CA410265852 | PEX26 | c.338C>T (p.Pro113Leu)
| dbSNP |
22 | g.18079982T>A | CA512915376 | PEX26 | c.339T>A (p.Pro113=)
| |
22 | g.18079982T>C | CA512915377 | PEX26 | c.339T>C (p.Pro113=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18079982T>G | CA512915378 | PEX26 | c.339T>G (p.Pro113=)
| |
22 | g.18079982T= | CA2395403486 | PEX26 | c.339T= (p.Pro113=)
| |
22 | g.18079983G>A | CA410265855 | PEX26 | c.340G>A (p.Glu114Lys)
| gnomAD v4 |
22 | g.18079983G>C | CA410265860 | PEX26 | c.340G>C (p.Glu114Gln)
| |
22 | g.18079983G>T | CA410265858 | PEX26 | c.340G>T (p.Glu114Ter)
| |
22 | g.18079984A= | CA2395403487 | PEX26 | c.341A= (p.Glu114=)
| |
22 | g.18079984A>C | CA410265864 | PEX26 | c.341A>C (p.Glu114Ala)
| dbSNP |
22 | g.18079984A>G | CA410265868 | PEX26 | c.341A>G (p.Glu114Gly)
| |
22 | g.18079984A>T | CA410265866 | PEX26 | c.341A>T (p.Glu114Val)
| |
22 | g.18079987del | CA2740094768 | PEX26 | c.344del (p.Lys115SerfsTer?)
| ClinVar |
22 | g.18079985A>C | CA410265871 | PEX26 | c.342A>C (p.Glu114Asp)
| |
22 | g.18079985A>G | CA512915382 | PEX26 | c.342A>G (p.Glu114=)
| |
22 | g.18079985A>T | CA410265873 | PEX26 | c.342A>T (p.Glu114Asp)
| |
22 | g.18079986A= | CA2395403488 | PEX26 | c.343A= (p.Lys115=)
| |
22 | g.18079986A>C | CA410265876 | PEX26 | c.343A>C (p.Lys115Gln)
| |
22 | g.18079986A>G | CA410265878 | PEX26 | c.343A>G (p.Lys115Glu)
| dbSNP gnomAD v4 |
22 | g.18079986A>T | CA410265879 | PEX26 | c.343A>T (p.Lys115Ter)
| |
22 | g.18079987A>C | CA410265882 | PEX26 | c.344A>C (p.Lys115Thr)
| |
22 | g.18079987A>G | CA410265884 | PEX26 | c.344A>G (p.Lys115Arg)
| |
22 | g.18079987A>T | CA410265886 | PEX26 | c.344A>T (p.Lys115Met)
| |
22 | g.18079988G>A | CA512915385 | PEX26 | c.345G>A (p.Lys115=)
| gnomAD v4 |
22 | g.18079988G>C | CA410265889 | PEX26 | c.345G>C (p.Lys115Asn)
| |
22 | g.18079988G= | CA2395403489 | PEX26 | c.345G= (p.Lys115=)
| |
22 | g.18079988G>T | CA410265891 | PEX26 | c.345G>T (p.Lys115Asn)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18079989C>A | CA410265894 | PEX26 | c.346C>A (p.Leu116Ile)
| |
22 | g.18079989C>G | CA410265896 | PEX26 | c.346C>G (p.Leu116Val)
| gnomAD v4 |
22 | g.18079989C>T | CA512915386 | PEX26 | c.346C>T (p.Leu116=)
| |
22 | g.18079990T>A | CA410265902 | PEX26 | c.347T>A (p.Leu116Gln)
| |
22 | g.18079990T>C | CA410265900 | PEX26 | c.347T>C (p.Leu116Pro)
| |
22 | g.18079990T>G | CA410265899 | PEX26 | c.347T>G (p.Leu116Arg)
| |
22 | g.18079991A>C | CA512915391 | PEX26 | c.348A>C (p.Leu116=)
| |
22 | g.18079991A>G | CA512915389 | PEX26 | c.348A>G (p.Leu116=)
| ClinVar dbSNP gnomAD v4 |
22 | g.18079991A>T | CA512915390 | PEX26 | c.348A>T (p.Leu116=)
| |
22 | g.18079991_18079992delinsAC | CA2395403490 | PEX26 | c.348_349delinsAC (p.Leu116=)
| |
22 | g.18079992C>A | CA410265906 | PEX26 | c.349C>A (p.Pro117Thr)
| ClinVar dbSNP |
22 | g.18079992C>G | CA410265908 | PEX26 | c.349C>G (p.Pro117Ala)
| |
22 | g.18079992C>T | CA410265909 | PEX26 | c.349C>T (p.Pro117Ser)
| gnomAD v4 |
22 | g.18079997dup | CA2655186725 | PEX26 | c.354dup (p.Lys119GlnfsTer?)
| ClinVar gnomAD v4 |
22 | g.18079997del | CA1139666953 | PEX26 | c.354del (p.Val120SerfsTer?)
| ClinVar dbSNP gnomAD v4 |
22 | g.18079993C>A | CA410265912 | PEX26 | c.350C>A (p.Pro117His)
| |
22 | g.18079993C= | CA2395403491 | PEX26 | c.350C= (p.Pro117=)
| |
22 | g.18079993C>G | CA410265914 | PEX26 | c.350C>G (p.Pro117Arg)
| |
22 | g.18079993C>T | CA10093293 | PEX26 | c.350C>T (p.Pro117Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079994C>A | CA512915394 | PEX26 | c.351C>A (p.Pro117=)
| |
22 | g.18079994C>G | CA512915396 | PEX26 | c.351C>G (p.Pro117=)
| gnomAD v4 |
22 | g.18079994C>T | CA512915399 | PEX26 | c.351C>T (p.Pro117=)
| ClinVar dbSNP |
22 | g.18079995C>A | CA410265919 | PEX26 | c.352C>A (p.Pro118Thr)
| |
22 | g.18079995C= | CA2395403492 | PEX26 | c.352C= (p.Pro118=)
| |
22 | g.18079995C>G | CA410265922 | PEX26 | c.352C>G (p.Pro118Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079995C>T | CA410265924 | PEX26 | c.352C>T (p.Pro118Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079996C>A | CA410265927 | PEX26 | c.353C>A (p.Pro118His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.18079996C= | CA2395403493 | PEX26 | c.353C= (p.Pro118=)
| |
22 | g.18079996C>G | CA321285522 | PEX26 | c.353C>G (p.Pro118Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079996C>T | CA10093294 | PEX26 | c.353C>T (p.Pro118Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079997C>A | CA512915401 | PEX26 | c.354C>A (p.Pro118=)
| |
22 | g.18079997C= | CA2395403494 | PEX26 | c.354C= (p.Pro118=)
| |
22 | g.18079997C>G | CA512915402 | PEX26 | c.354C>G (p.Pro118=)
| ClinVar gnomAD v4 |
22 | g.18079997C>T | CA512915403 | PEX26 | c.354C>T (p.Pro118=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18079998A>C | CA410265934 | PEX26 | c.355A>C (p.Lys119Gln)
| |
22 | g.18079998A>G | CA410265937 | PEX26 | c.355A>G (p.Lys119Glu)
| |
22 | g.18079998A>T | CA410265933 | PEX26 | c.355A>T (p.Lys119Ter)
| |
22 | g.18079999A= | CA2395403495 | PEX26 | c.356A= (p.Lys119=)
| |
22 | g.18079999A>C | CA410265939 | PEX26 | c.356A>C (p.Lys119Thr)
| COSMIC |
22 | g.18079999A>G | CA410265941 | PEX26 | c.356A>G (p.Lys119Arg)
| ClinVar dbSNP |
22 | g.18079999A>T | CA410265944 | PEX26 | c.356A>T (p.Lys119Ile)
| |
22 | g.18080000A>C | CA410265947 | PEX26 | c.357A>C (p.Lys119Asn)
| |
22 | g.18080000A>G | CA512915408 | PEX26 | c.357A>G (p.Lys119=)
| |
22 | g.18080000A>T | CA410265949 | PEX26 | c.357A>T (p.Lys119Asn)
| |
22 | g.18080001G>A | CA410265952 | PEX26 | c.358G>A (p.Val120Ile)
| gnomAD v4 |
22 | g.18080001G>C | CA410265954 | PEX26 | c.358G>C (p.Val120Leu)
| gnomAD v4 |
22 | g.18080001G>T | CA410265956 | PEX26 | c.358G>T (p.Val120Phe)
| |
22 | g.18080002T>A | CA410265959 | PEX26 | c.359T>A (p.Val120Asp)
| |
22 | g.18080002T>C | CA410265961 | PEX26 | c.359T>C (p.Val120Ala)
| |
22 | g.18080002T>G | CA410265963 | PEX26 | c.359T>G (p.Val120Gly)
| |
22 | g.18080003C>A | CA512915409 | PEX26 | c.360C>A (p.Val120=)
| |
22 | g.18080003C= | CA2395403496 | PEX26 | c.360C= (p.Val120=)
| |
22 | g.18080003C>G | CA512915410 | PEX26 | c.360C>G (p.Val120=)
| |
22 | g.18080003C>T | CA10093295 | PEX26 | c.360C>T (p.Val120=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18080004C>A | CA410265969 | PEX26 | c.361C>A (p.Leu121Met)
| |
22 | g.18080004C>G | CA410265968 | PEX26 | c.361C>G (p.Leu121Val)
| |
22 | g.18080004C>T | CA512915411 | PEX26 | c.361C>T (p.Leu121=)
| gnomAD v4 |
22 | g.18080004_18080005del | CA2695200061 | PEX26 | c.361_362del (p.Leu121GlyfsTer?)
| ClinVar |
22 | g.18080005T>A | CA410265972 | PEX26 | c.362T>A (p.Leu121Gln)
| |
22 | g.18080005T>C | CA410265974 | PEX26 | c.362T>C (p.Leu121Pro)
| |
22 | g.18080005T>G | CA410265976 | PEX26 | c.362T>G (p.Leu121Arg)
| |
22 | g.18080006G>A | CA512915414 | PEX26 | c.363G>A (p.Leu121=)
| |
22 | g.18080006G>C | CA512915415 | PEX26 | c.363G>C (p.Leu121=)
| |
22 | g.18080006G>T | CA512915416 | PEX26 | c.363G>T (p.Leu121=)
| |
22 | g.18080007G>A | CA410265979 | PEX26 | c.364G>A (p.Glu122Lys)
| dbSNP gnomAD v4 |
22 | g.18080007G>C | CA410265981 | PEX26 | c.364G>C (p.Glu122Gln)
| |
22 | g.18080007G>T | CA410265982 | PEX26 | c.364G>T (p.Glu122Ter)
| |
22 | g.18080008A>C | CA410265984 | PEX26 | c.365A>C (p.Glu122Ala)
| |
22 | g.18080008A>G | CA410265987 | PEX26 | c.365A>G (p.Glu122Gly)
| |
22 | g.18080008A>T | CA410265989 | PEX26 | c.365A>T (p.Glu122Val)
| |
22 | g.18080009G>A | CA512915421 | PEX26 | c.366G>A (p.Glu122=)
| |
22 | g.18080009G>C | CA410265991 | PEX26 | c.366G>C (p.Glu122Asp)
| |
22 | g.18080009G>T | CA410265993 | PEX26 | c.366G>T (p.Glu122Asp)
| |
22 | g.18080010C>A | CA410265996 | PEX26 | c.367C>A (p.Leu123Met)
| |
22 | g.18080010C>G | CA410265998 | PEX26 | c.367C>G (p.Leu123Val)
| gnomAD v4 |
22 | g.18080010C>T | CA512915423 | PEX26 | c.367C>T (p.Leu123=)
| |
22 | g.18080011T>A | CA410266005 | PEX26 | c.368T>A (p.Leu123Gln)
| |
22 | g.18080011T>C | CA10588714 | PEX26 | c.368T>C (p.Leu123Pro)
| ClinVar dbSNP gnomAD v4 |
22 | g.18080011T>G | CA410266001 | PEX26 | c.368T>G (p.Leu123Arg)
| |
22 | g.18080011T= | CA2395403497 | PEX26 | c.368T= (p.Leu123=)
| |
22 | g.18080012G>A | CA512915427 | PEX26 | c.369G>A (p.Leu123=)
| dbSNP gnomAD v4 |
22 | g.18080012G>C | CA512915428 | PEX26 | c.369G>C (p.Leu123=)
| |
22 | g.18080012G= | CA2395403498 | PEX26 | c.369G= (p.Leu123=)
| |
22 | g.18080012G>T | CA512915429 | PEX26 | c.369G>T (p.Leu123=)
| |
22 | g.18080013T>A | CA410266009 | PEX26 | c.370T>A (p.Cys124Ser)
| |
22 | g.18080013T>C | CA410266014 | PEX26 | c.370T>C (p.Cys124Arg)
| dbSNP |
22 | g.18080013T>G | CA410266011 | PEX26 | c.370T>G (p.Cys124Gly)
| |
22 | g.18080013T= | CA2395403499 | PEX26 | c.370T= (p.Cys124=)
| |
22 | g.18080014G>A | CA410266017 | PEX26 | c.371G>A (p.Cys124Tyr)
| |
22 | g.18080014G>C | CA410266019 | PEX26 | c.371G>C (p.Cys124Ser)
| |
22 | g.18080014G= | CA2395403500 | PEX26 | c.371G= (p.Cys124=)
| |
22 | g.18080014G>T | CA410266021 | PEX26 | c.371G>T (p.Cys124Phe)
| |
22 | g.18080014_18080015insCATTCTTTTATACAGCAAAAT | CA10093296 | PEX26 | c.371_371+1insCATTCTTTTATACAGCAAAAT (n.371_371+1insCATTCTTTTATACAGCAAAAT)
| dbSNP ExAC |
22 | g.18080014_18080015insCATTCTTTTATACAGCAAAATGCAAGAGCCTGGAGCT | CA2655186767 | PEX26 | c.371_371+1insCATTCTTTTATACAGCAAAATGCAAGAGCCTGGAGCT (n.371_371+1insCATTCTTTTATACAGCAAAATGCAAGAGCCTGGAGCT)
| gnomAD v4 |
22 | g.18080015G>A | CA410266026 | PEX26 | c.371+1G>A (n.371+1G>A)
| |
22 | g.18080015G>C | CA410266029 | PEX26 | c.371+1G>C (n.371+1G>C)
| |
22 | g.18080015G>T | CA410266031 | PEX26 | c.371+1G>T (n.371+1G>T)
| |
22 | g.18080016T>A | CA410266035 | PEX26 | c.371+2T>A (n.371+2T>A)
| |
22 | g.18080016T>C | CA10093297 | PEX26 | c.371+2T>C (n.371+2T>C)
| dbSNP ExAC |
22 | g.18080016T>G | CA410266038 | PEX26 | c.371+2T>G (n.371+2T>G)
| |
22 | g.18080016T= | CA2395403501 | PEX26 | c.371+2T= (n.371+2T=)
| |
22 | g.18080017A= | CA2395403502 | PEX26 | c.371+3A= (n.371+3A=)
| |
22 | g.18080017A>G | CA2655186776 | PEX26 | c.371+3A>G (n.371+3A>G)
| gnomAD v4 |
22 | g.18080017A>T | CA638320340 | PEX26 | c.371+3A>T (n.371+3A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18080019G>A | CA2577641465 | PEX26 | c.371+5G>A (n.371+5G>A)
| gnomAD v4 |
22 | g.18080019_18080022delinsGTCT | CA2395403503 | PEX26 | c.371+5_371+8delinsGTCT (n.371+5_371+8delinsGTCT)
| |
22 | g.18080020T>C | CA1139666954 | PEX26 | c.371+6T>C (n.371+6T>C)
| ClinVar dbSNP gnomAD v4 |
22 | g.18080020T= | CA2395403505 | PEX26 | c.371+6T= (n.371+6T=)
| |
22 | g.18080024_18080026del | CA2395403504 | PEX26 | c.371+10_371+12del (n.371+10_371+12del)
| ClinVar dbSNP gnomAD v4 |
22 | g.18080022T>C | CA2740094769 | PEX26 | c.371+8T>C (n.371+8T>C)
| ClinVar |
22 | g.18080022T>G | CA10093298 | PEX26 | c.371+8T>G (n.371+8T>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18080022T= | CA2395403506 | PEX26 | c.371+8T= (n.371+8T=)
| |
22 | g.18080024C>A | CA751300563 | PEX26 | c.371+10C>A (n.371+10C>A)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.18080024C= | CA2395403507 | PEX26 | c.371+10C= (n.371+10C=)
| |
22 | g.18080024C>G | CA10093299 | PEX26 | c.371+10C>G (n.371+10C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18080025T>C | CA2395403509 | PEX26 | c.371+11T>C (n.371+11T>C)
| dbSNP gnomAD v4 |
22 | g.18080025T= | CA2395403508 | PEX26 | c.371+11T= (n.371+11T=)
| |
22 | g.18080026T>C | CA10093300 | PEX26 | c.371+12T>C (n.371+12T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18080026T= | CA2395403510 | PEX26 | c.371+12T= (n.371+12T=)
| |
22 | g.18080027T>C | CA2655186830 | PEX26 | c.371+13T>C (n.371+13T>C)
| gnomAD v4 |
22 | g.18080027T>G | CA2655186833 | PEX26 | c.371+13T>G (n.371+13T>G)
| gnomAD v4 |
22 | g.18080028G>A | CA2573157701 | PEX26 | c.371+14G>A (n.371+14G>A)
| ClinVar dbSNP |
22 | g.18080028G>C | CA2741703738 | PEX26 | c.371+14G>C (n.371+14G>C)
| |
22 | g.18080028G= | CA2395403511 | PEX26 | c.371+14G= (n.371+14G=)
| |
22 | g.18080030_18080035dup | CA751300572 | PEX26 | c.371+16_371+21dup (n.371+16_371+21dup)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18080030T>C | CA2655186840 | PEX26 | c.371+16T>C (n.371+16T>C)
| gnomAD v4 |
22 | g.18080031G>A | CA2655186842 | PEX26 | c.371+17G>A (n.371+17G>A)
| gnomAD v4 |
22 | g.18080032A>G | CA2655186843 | PEX26 | c.371+18A>G (n.371+18A>G)
| gnomAD v4 |
22 | g.18080033C>T | CA2499226010 | PEX26 | c.371+19C>T (n.371+19C>T)
| ClinVar dbSNP |
22 | g.18080034dup | CA2740094770 | PEX26 | c.371+20dup (n.371+20dup)
| ClinVar |
22 | g.18080035C= | CA2395403512 | PEX26 | c.371+21C= (n.371+21C=)
| |
22 | g.18080035C>G | CA10093301 | PEX26 | c.371+21C>G (n.371+21C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18080035C>T | CA2655186844 | PEX26 | c.371+21C>T (n.371+21C>T)
| gnomAD v4 |