| 8 | g.76983402A>C | CA371556604 | PEX2 | c.777T>G (p.Cys259Trp)
| |
| 8 | g.76983402A>G | CA461773163 | PEX2 | c.777T>C (p.Cys259=)
| |
| 8 | g.76983402A>T | CA371556605 | PEX2 | c.777T>A (p.Cys259Ter)
| |
| 8 | g.76983403C>A | CA371556607 | PEX2 | c.776G>T (p.Cys259Phe)
| |
| 8 | g.76983403C>G | CA371556608 | PEX2 | c.776G>C (p.Cys259Ser)
| |
| 8 | g.76983403C>T | CA371556606 | PEX2 | c.776G>A (p.Cys259Tyr)
| |
| 8 | g.76983404A>C | CA371556609 | PEX2 | c.775T>G (p.Cys259Gly)
| |
| 8 | g.76983404A>G | CA371556610 | PEX2 | c.775T>C (p.Cys259Arg)
| gnomAD v4 |
| 8 | g.76983404A>T | CA371556611 | PEX2 | c.775T>A (p.Cys259Ser)
| |
| 8 | g.76983405del | CA2687718856 | PEX2 | c.774del (p.Cys259ValfsTer?)
| gnomAD v4 |
| 8 | g.76983405T>A | CA461773166 | PEX2 | c.774A>T (p.Gly258=)
| |
| 8 | g.76983405T>C | CA461773164 | PEX2 | c.774A>G (p.Gly258=)
| |
| 8 | g.76983405T>G | CA461773165 | PEX2 | c.774A>C (p.Gly258=)
| |
| 8 | g.76983406C>A | CA371556612 | PEX2 | c.773G>T (p.Gly258Val)
| |
| 8 | g.76983406C= | CA1795350901 | PEX2 | c.773G= (p.Gly258=)
| |
| 8 | g.76983406C>G | CA371556613 | PEX2 | c.773G>C (p.Gly258Ala)
| ClinVar dbSNP |
| 8 | g.76983406C>T | CA371556614 | PEX2 | c.773G>A (p.Gly258Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983407C>A | CA371556615 | PEX2 | c.772G>T (p.Gly258Ter)
| gnomAD v4 COSMIC |
| 8 | g.76983407C= | CA1795350904 | PEX2 | c.772G= (p.Gly258=)
| |
| 8 | g.76983407C>G | CA371556616 | PEX2 | c.772G>C (p.Gly258Arg)
| |
| 8 | g.76983407C>T | CA371556617 | PEX2 | c.772G>A (p.Gly258Arg)
| dbSNP |
| 8 | g.76983408T>A | CA461773167 | PEX2 | c.771A>T (p.Ile257=)
| ClinVar dbSNP |
| 8 | g.76983408T>C | CA371556618 | PEX2 | c.771A>G (p.Ile257Met)
| |
| 8 | g.76983408T>G | CA461773168 | PEX2 | c.771A>C (p.Ile257=)
| |
| 8 | g.76983408T= | CA1795350908 | PEX2 | c.771A= (p.Ile257=)
| |
| 8 | g.76983409_76983410dup | CA4788655 | PEX2 | c.770_771dup (p.Gly258Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983409A>C | CA371556621 | PEX2 | c.770T>G (p.Ile257Arg)
| |
| 8 | g.76983409A>G | CA371556620 | PEX2 | c.770T>C (p.Ile257Thr)
| gnomAD v4 |
| 8 | g.76983409A>T | CA371556619 | PEX2 | c.770T>A (p.Ile257Lys)
| |
| 8 | g.76983410del | CA2687718857 | PEX2 | c.769del (p.Ile257Ter)
| gnomAD v4 |
| 8 | g.76983410T>A | CA371556622 | PEX2 | c.769A>T (p.Ile257Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983410T>C | CA4788656 | PEX2 | c.769A>G (p.Ile257Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983410T>G | CA371556623 | PEX2 | c.769A>C (p.Ile257Leu)
| |
| 8 | g.76983410T= | CA1795350911 | PEX2 | c.769A= (p.Ile257=)
| |
| 8 | g.76983411G>A | CA461773169 | PEX2 | c.768C>T (p.Thr256=)
| ClinVar dbSNP COSMIC |
| 8 | g.76983411G>C | CA461773170 | PEX2 | c.768C>G (p.Thr256=)
| |
| 8 | g.76983411G= | CA1795350915 | PEX2 | c.768C= (p.Thr256=)
| |
| 8 | g.76983411G>T | CA461773171 | PEX2 | c.768C>A (p.Thr256=)
| |
| 8 | g.76983412G>A | CA371556624 | PEX2 | c.767C>T (p.Thr256Ile)
| dbSNP |
| 8 | g.76983412G>C | CA371556625 | PEX2 | c.767C>G (p.Thr256Ser)
| |
| 8 | g.76983412G= | CA1795350917 | PEX2 | c.767C= (p.Thr256=)
| |
| 8 | g.76983412G>T | CA371556626 | PEX2 | c.767C>A (p.Thr256Asn)
| |
| 8 | g.76983413T>A | CA371556627 | PEX2 | c.766A>T (p.Thr256Ser)
| |
| 8 | g.76983413T>C | CA371556628 | PEX2 | c.766A>G (p.Thr256Ala)
| ClinVar dbSNP |
| 8 | g.76983413T>G | CA371556629 | PEX2 | c.766A>C (p.Thr256Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983413T= | CA1795350919 | PEX2 | c.766A= (p.Thr256=)
| |
| 8 | g.76983414G>A | CA461773172 | PEX2 | c.765C>T (p.His255=)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983414G>C | CA371556630 | PEX2 | c.765C>G (p.His255Gln)
| |
| 8 | g.76983414G>T | CA371556631 | PEX2 | c.765C>A (p.His255Gln)
| |
| 8 | g.76983415T>A | CA371556634 | PEX2 | c.764A>T (p.His255Leu)
| |
| 8 | g.76983415T>C | CA371556633 | PEX2 | c.764A>G (p.His255Arg)
| |
| 8 | g.76983415T>G | CA371556632 | PEX2 | c.764A>C (p.His255Pro)
| |
| 8 | g.76983416G>A | CA371556635 | PEX2 | c.763C>T (p.His255Tyr)
| |
| 8 | g.76983416G>C | CA371556637 | PEX2 | c.763C>G (p.His255Asp)
| |
| 8 | g.76983416G>T | CA371556636 | PEX2 | c.763C>A (p.His255Asn)
| |
| 8 | g.76983417A>C | CA461773173 | PEX2 | c.762T>G (p.Pro254=)
| |
| 8 | g.76983417A>G | CA461773175 | PEX2 | c.762T>C (p.Pro254=)
| gnomAD v4 |
| 8 | g.76983417A>T | CA461773174 | PEX2 | c.762T>A (p.Pro254=)
| |
| 8 | g.76983418G>A | CA371556638 | PEX2 | c.761C>T (p.Pro254Leu)
| |
| 8 | g.76983418G>C | CA371556639 | PEX2 | c.761C>G (p.Pro254Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983418G= | CA1795350921 | PEX2 | c.761C= (p.Pro254=)
| |
| 8 | g.76983418G>T | CA371556640 | PEX2 | c.761C>A (p.Pro254His)
| |
| 8 | g.76983419G>A | CA4788657 | PEX2 | c.760C>T (p.Pro254Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983419G>C | CA371556641 | PEX2 | c.760C>G (p.Pro254Ala)
| |
| 8 | g.76983419G= | CA1795350924 | PEX2 | c.760C= (p.Pro254=)
| |
| 8 | g.76983419G>T | CA371556642 | PEX2 | c.760C>A (p.Pro254Thr)
| |
| 8 | g.76983420C>A | CA371556643 | PEX2 | c.759G>T (p.Met253Ile)
| |
| 8 | g.76983420C>G | CA371556644 | PEX2 | c.759G>C (p.Met253Ile)
| |
| 8 | g.76983420C>T | CA371556645 | PEX2 | c.759G>A (p.Met253Ile)
| |
| 8 | g.76983421A>C | CA371556646 | PEX2 | c.758T>G (p.Met253Arg)
| |
| 8 | g.76983421A>G | CA371556647 | PEX2 | c.758T>C (p.Met253Thr)
| |
| 8 | g.76983421A>T | CA371556648 | PEX2 | c.758T>A (p.Met253Lys)
| |
| 8 | g.76983422T>A | CA371556649 | PEX2 | c.757A>T (p.Met253Leu)
| |
| 8 | g.76983422T>C | CA371556651 | PEX2 | c.757A>G (p.Met253Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983422T>G | CA371556650 | PEX2 | c.757A>C (p.Met253Leu)
| |
| 8 | g.76983422T= | CA1795350926 | PEX2 | c.757A= (p.Met253=)
| |
| 8 | g.76983423G>A | CA461773176 | PEX2 | c.756C>T (p.Thr252=)
| ClinVar |
| 8 | g.76983423G>C | CA461773177 | PEX2 | c.756C>G (p.Thr252=)
| |
| 8 | g.76983423G>T | CA461773178 | PEX2 | c.756C>A (p.Thr252=)
| |
| 8 | g.76983424G>A | CA371556652 | PEX2 | c.755C>T (p.Thr252Ile)
| |
| 8 | g.76983424G>C | CA371556653 | PEX2 | c.755C>G (p.Thr252Ser)
| |
| 8 | g.76983424G>T | CA371556654 | PEX2 | c.755C>A (p.Thr252Asn)
| |
| 8 | g.76983425T>A | CA371556655 | PEX2 | c.754A>T (p.Thr252Ser)
| |
| 8 | g.76983425T>C | CA371556656 | PEX2 | c.754A>G (p.Thr252Ala)
| gnomAD v4 |
| 8 | g.76983425T>G | CA371556657 | PEX2 | c.754A>C (p.Thr252Pro)
| |
| 8 | g.76983426G>A | CA461773180 | PEX2 | c.753C>T (p.Pro251=)
| |
| 8 | g.76983426G>C | CA461773181 | PEX2 | c.753C>G (p.Pro251=)
| gnomAD v4 |
| 8 | g.76983426G>T | CA461773179 | PEX2 | c.753C>A (p.Pro251=)
| |
| 8 | g.76983427G>A | CA4788658 | PEX2 | c.752C>T (p.Pro251Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983427G>C | CA371556658 | PEX2 | c.752C>G (p.Pro251Arg)
| ClinVar |
| 8 | g.76983427G= | CA1795350928 | PEX2 | c.752C= (p.Pro251=)
| |
| 8 | g.76983427G>T | CA371556659 | PEX2 | c.752C>A (p.Pro251His)
| |
| 8 | g.76983428G>A | CA371556661 | PEX2 | c.751C>T (p.Pro251Ser)
| gnomAD v4 |
| 8 | g.76983428G>C | CA371556662 | PEX2 | c.751C>G (p.Pro251Ala)
| |
| 8 | g.76983428G>T | CA371556660 | PEX2 | c.751C>A (p.Pro251Thr)
| |
| 8 | g.76983429C>A | CA371556663 | PEX2 | c.750G>T (p.Trp250Cys)
| |
| 8 | g.76983429C>G | CA371556664 | PEX2 | c.750G>C (p.Trp250Cys)
| |
| 8 | g.76983429C>T | CA371556665 | PEX2 | c.750G>A (p.Trp250Ter)
| |
| 8 | g.76983430C>A | CA371556666 | PEX2 | c.749G>T (p.Trp250Leu)
| |
| 8 | g.76983430C>G | CA371556667 | PEX2 | c.749G>C (p.Trp250Ser)
| |
| 8 | g.76983430C>T | CA371556668 | PEX2 | c.749G>A (p.Trp250Ter)
| |
| 8 | g.76983431A= | CA1795350932 | PEX2 | c.748T= (p.Trp250=)
| |
| 8 | g.76983431A>C | CA371556669 | PEX2 | c.748T>G (p.Trp250Gly)
| ClinVar dbSNP |
| 8 | g.76983431A>G | CA154235 | PEX2 | c.748T>C (p.Trp250Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983431A>T | CA371556670 | PEX2 | c.748T>A (p.Trp250Arg)
| |
| 8 | g.76983432C>A | CA371556671 | PEX2 | c.747G>T (p.Glu249Asp)
| |
| 8 | g.76983432C>G | CA371556672 | PEX2 | c.747G>C (p.Glu249Asp)
| |
| 8 | g.76983432C>T | CA461773182 | PEX2 | c.747G>A (p.Glu249=)
| gnomAD v4 COSMIC |
| 8 | g.76983433T>A | CA371556674 | PEX2 | c.746A>T (p.Glu249Val)
| |
| 8 | g.76983433T>C | CA4788659 | PEX2 | c.746A>G (p.Glu249Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983433T>G | CA371556673 | PEX2 | c.746A>C (p.Glu249Ala)
| |
| 8 | g.76983433T= | CA1795350936 | PEX2 | c.746A= (p.Glu249=)
| |
| 8 | g.76983434C>A | CA371556675 | PEX2 | c.745G>T (p.Glu249Ter)
| |
| 8 | g.76983434C>G | CA371556676 | PEX2 | c.745G>C (p.Glu249Gln)
| dbSNP |
| 8 | g.76983434C>T | CA371556677 | PEX2 | c.745G>A (p.Glu249Lys)
| |
| 8 | g.76983435T>A | CA461773183 | PEX2 | c.744A>T (p.Gly248=)
| gnomAD v4 |
| 8 | g.76983435T>C | CA461773184 | PEX2 | c.744A>G (p.Gly248=)
| |
| 8 | g.76983435T>G | CA461773185 | PEX2 | c.744A>C (p.Gly248=)
| |
| 8 | g.76983436C>A | CA371556678 | PEX2 | c.743G>T (p.Gly248Val)
| |
| 8 | g.76983436C>G | CA371556679 | PEX2 | c.743G>C (p.Gly248Ala)
| |
| 8 | g.76983436C>T | CA371556680 | PEX2 | c.743G>A (p.Gly248Glu)
| gnomAD v4 |
| 8 | g.76983437C>A | CA371556681 | PEX2 | c.742G>T (p.Gly248Ter)
| COSMIC |
| 8 | g.76983437C= | CA1795350940 | PEX2 | c.742G= (p.Gly248=)
| |
| 8 | g.76983437C>G | CA371556683 | PEX2 | c.742G>C (p.Gly248Arg)
| |
| 8 | g.76983437C>T | CA371556682 | PEX2 | c.742G>A (p.Gly248Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983438A>C | CA371556684 | PEX2 | c.741T>G (p.Cys247Trp)
| |
| 8 | g.76983438A>G | CA461773186 | PEX2 | c.741T>C (p.Cys247=)
| |
| 8 | g.76983438A>T | CA371556685 | PEX2 | c.741T>A (p.Cys247Ter)
| |
| 8 | g.76983439C>A | CA371556686 | PEX2 | c.740G>T (p.Cys247Phe)
| COSMIC |
| 8 | g.76983439C= | CA1795350943 | PEX2 | c.740G= (p.Cys247=)
| |
| 8 | g.76983439C>G | CA371556687 | PEX2 | c.740G>C (p.Cys247Ser)
| |
| 8 | g.76983439C>T | CA10588463 | PEX2 | c.740G>A (p.Cys247Tyr)
| ClinVar dbSNP |
| 8 | g.76983439_76983441delinsCAT | CA1795350946 | PEX2 | c.738_740delinsATG (p.Leu246=)
| |
| 8 | g.76983440A= | CA1795350950 | PEX2 | c.739T= (p.Cys247=)
| |
| 8 | g.76983440A>C | CA371556689 | PEX2 | c.739T>G (p.Cys247Gly)
| |
| 8 | g.76983440A>G | CA163284 | PEX2 | c.739T>C (p.Cys247Arg)
| ClinVar dbSNP |
| 8 | g.76983440A>T | CA371556688 | PEX2 | c.739T>A (p.Cys247Ser)
| |
| 8 | g.76983441_76983442del | CA583367326 | PEX2 | c.738_739del (p.Cys247TrpfsTer13)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983441T>A | CA461773187 | PEX2 | c.738A>T (p.Leu246=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983441T>C | CA4788660 | PEX2 | c.738A>G (p.Leu246=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983441T>G | CA461773188 | PEX2 | c.738A>C (p.Leu246=)
| dbSNP gnomAD v4 |
| 8 | g.76983441T= | CA1795350955 | PEX2 | c.738A= (p.Leu246=)
| |
| 8 | g.76983442A>C | CA371556690 | PEX2 | c.737T>G (p.Leu246Arg)
| |
| 8 | g.76983442A>G | CA371556691 | PEX2 | c.737T>C (p.Leu246Pro)
| ClinVar |
| 8 | g.76983442A>T | CA371556692 | PEX2 | c.737T>A (p.Leu246Gln)
| |
| 8 | g.76983442dup | CA2687718858 | PEX2 | c.737dup (p.Cys247MetfsTer14)
| gnomAD v4 |
| 8 | g.76983443G>A | CA461773189 | PEX2 | c.736C>T (p.Leu246=)
| dbSNP |
| 8 | g.76983443G>C | CA4788661 | PEX2 | c.736C>G (p.Leu246Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983443G= | CA1795350959 | PEX2 | c.736C= (p.Leu246=)
| |
| 8 | g.76983443G>T | CA371556693 | PEX2 | c.736C>A (p.Leu246Ile)
| gnomAD v4 |
| 8 | g.76983444A= | CA1795350961 | PEX2 | c.735T= (p.Ala245=)
| |
| 8 | g.76983444A>C | CA461773190 | PEX2 | c.735T>G (p.Ala245=)
| |
| 8 | g.76983444A>G | CA461773191 | PEX2 | c.735T>C (p.Ala245=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983444A>T | CA461773192 | PEX2 | c.735T>A (p.Ala245=)
| |
| 8 | g.76983445G>A | CA371556696 | PEX2 | c.734C>T (p.Ala245Val)
| |
| 8 | g.76983445G>C | CA371556695 | PEX2 | c.734C>G (p.Ala245Gly)
| |
| 8 | g.76983445G>T | CA371556694 | PEX2 | c.734C>A (p.Ala245Asp)
| |
| 8 | g.76983447_76983457del | CA2687718859 | PEX2 | c.724_734del (p.Lys242SerfsTer15)
| gnomAD v4 |
| 8 | g.76983446C>A | CA371556697 | PEX2 | c.733G>T (p.Ala245Ser)
| gnomAD v4 |
| 8 | g.76983446C= | CA1795350965 | PEX2 | c.733G= (p.Ala245=)
| |
| 8 | g.76983446C>G | CA4788663 | PEX2 | c.733G>C (p.Ala245Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983446C>T | CA4788662 | PEX2 | c.733G>A (p.Ala245Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983447G>A | CA4788664 | PEX2 | c.732C>T (p.Cys244=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983447G>C | CA371556698 | PEX2 | c.732C>G (p.Cys244Trp)
| |
| 8 | g.76983447G= | CA1795350971 | PEX2 | c.732C= (p.Cys244=)
| |
| 8 | g.76983447G>T | CA371556699 | PEX2 | c.732C>A (p.Cys244Ter)
| |
| 8 | g.76983448C>A | CA371556702 | PEX2 | c.731G>T (p.Cys244Phe)
| |
| 8 | g.76983448C>G | CA371556700 | PEX2 | c.731G>C (p.Cys244Ser)
| |
| 8 | g.76983448C>T | CA371556701 | PEX2 | c.731G>A (p.Cys244Tyr)
| |
| 8 | g.76983449A>C | CA371556703 | PEX2 | c.730T>G (p.Cys244Gly)
| |
| 8 | g.76983449A>G | CA371556704 | PEX2 | c.730T>C (p.Cys244Arg)
| |
| 8 | g.76983449A>T | CA371556705 | PEX2 | c.730T>A (p.Cys244Ser)
| |
| 8 | g.76983450T>A | CA371556706 | PEX2 | c.729A>T (p.Glu243Asp)
| |
| 8 | g.76983450T>C | CA179988255 | PEX2 | c.729A>G (p.Glu243=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983450T>G | CA371556707 | PEX2 | c.729A>C (p.Glu243Asp)
| |
| 8 | g.76983450T= | CA1795350974 | PEX2 | c.729A= (p.Glu243=)
| |
| 8 | g.76983451T>A | CA371556708 | PEX2 | c.728A>T (p.Glu243Val)
| |
| 8 | g.76983451T>C | CA371556709 | PEX2 | c.728A>G (p.Glu243Gly)
| |
| 8 | g.76983451T>G | CA371556710 | PEX2 | c.728A>C (p.Glu243Ala)
| |
| 8 | g.76983452C>A | CA371556711 | PEX2 | c.727G>T (p.Glu243Ter)
| |
| 8 | g.76983452C= | CA1795350976 | PEX2 | c.727G= (p.Glu243=)
| |
| 8 | g.76983452C>G | CA371556712 | PEX2 | c.727G>C (p.Glu243Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983452C>T | CA371556713 | PEX2 | c.727G>A (p.Glu243Lys)
| |
| 8 | g.76983453T>A | CA371556714 | PEX2 | c.726A>T (p.Lys242Asn)
| |
| 8 | g.76983453T>C | CA461773193 | PEX2 | c.726A>G (p.Lys242=)
| ClinVar dbSNP |
| 8 | g.76983453T>G | CA371556715 | PEX2 | c.726A>C (p.Lys242Asn)
| |
| 8 | g.76983454T>A | CA371556716 | PEX2 | c.725A>T (p.Lys242Ile)
| |
| 8 | g.76983454T>C | CA371556718 | PEX2 | c.725A>G (p.Lys242Arg)
| |
| 8 | g.76983454T>G | CA371556717 | PEX2 | c.725A>C (p.Lys242Thr)
| |
| 8 | g.76983455T>A | CA371556719 | PEX2 | c.724A>T (p.Lys242Ter)
| |
| 8 | g.76983455T>C | CA371556720 | PEX2 | c.724A>G (p.Lys242Glu)
| |
| 8 | g.76983455T>G | CA371556721 | PEX2 | c.724A>C (p.Lys242Gln)
| |
| 8 | g.76983456G>A | CA461773194 | PEX2 | c.723C>T (p.Gly241=)
| |
| 8 | g.76983456G>C | CA461773195 | PEX2 | c.723C>G (p.Gly241=)
| |
| 8 | g.76983456G>T | CA461773196 | PEX2 | c.723C>A (p.Gly241=)
| |
| 8 | g.76983457C>A | CA220656 | PEX2 | c.722G>T (p.Gly241Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983457C= | CA1795350979 | PEX2 | c.722G= (p.Gly241=)
| |
| 8 | g.76983457C>G | CA371556722 | PEX2 | c.722G>C (p.Gly241Ala)
| |
| 8 | g.76983457C>T | CA371556723 | PEX2 | c.722G>A (p.Gly241Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983458C>A | CA371556724 | PEX2 | c.721G>T (p.Gly241Cys)
| |
| 8 | g.76983458C>G | CA371556725 | PEX2 | c.721G>C (p.Gly241Arg)
| |
| 8 | g.76983458C>T | CA371556726 | PEX2 | c.721G>A (p.Gly241Ser)
| dbSNP |
| 8 | g.76983459A= | CA1795350983 | PEX2 | c.720T= (p.Ser240=)
| |
| 8 | g.76983459A>C | CA371556727 | PEX2 | c.720T>G (p.Ser240Arg)
| |
| 8 | g.76983459A>G | CA179988256 | PEX2 | c.720T>C (p.Ser240=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983459A>T | CA371556728 | PEX2 | c.720T>A (p.Ser240Arg)
| |
| 8 | g.76983460C>A | CA371556731 | PEX2 | c.719G>T (p.Ser240Ile)
| |
| 8 | g.76983460C>G | CA371556730 | PEX2 | c.719G>C (p.Ser240Thr)
| |
| 8 | g.76983460C>T | CA371556729 | PEX2 | c.719G>A (p.Ser240Asn)
| gnomAD v4 |
| 8 | g.76983461T>A | CA371556732 | PEX2 | c.718A>T (p.Ser240Cys)
| |
| 8 | g.76983461T>C | CA371556733 | PEX2 | c.718A>G (p.Ser240Gly)
| |
| 8 | g.76983461T>G | CA371556734 | PEX2 | c.718A>C (p.Ser240Arg)
| ClinVar |
| 8 | g.76983462G>A | CA461773197 | PEX2 | c.717C>T (p.Thr239=)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983462G>C | CA461773199 | PEX2 | c.717C>G (p.Thr239=)
| |
| 8 | g.76983462G>T | CA461773200 | PEX2 | c.717C>A (p.Thr239=)
| |
| 8 | g.76983463G>A | CA371556735 | PEX2 | c.716C>T (p.Thr239Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983463G>C | CA371556736 | PEX2 | c.716C>G (p.Thr239Ser)
| |
| 8 | g.76983463G= | CA1795350989 | PEX2 | c.716C= (p.Thr239=)
| |
| 8 | g.76983463G>T | CA371556737 | PEX2 | c.716C>A (p.Thr239Asn)
| |
| 8 | g.76983464T>A | CA371556738 | PEX2 | c.715A>T (p.Thr239Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.76983464T>C | CA371556739 | PEX2 | c.715A>G (p.Thr239Ala)
| |
| 8 | g.76983464T>G | CA371556740 | PEX2 | c.715A>C (p.Thr239Pro)
| |
| 8 | g.76983464T= | CA1795350995 | PEX2 | c.715A= (p.Thr239=)
| |
| 8 | g.76983465G>A | CA461773201 | PEX2 | c.714C>T (p.Ala238=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983465G>C | CA461773202 | PEX2 | c.714C>G (p.Ala238=)
| |
| 8 | g.76983465G= | CA1795350998 | PEX2 | c.714C= (p.Ala238=)
| |
| 8 | g.76983465G>T | CA461773203 | PEX2 | c.714C>A (p.Ala238=)
| |
| 8 | g.76983466G>A | CA371556741 | PEX2 | c.713C>T (p.Ala238Val)
| |
| 8 | g.76983466G>C | CA371556742 | PEX2 | c.713C>G (p.Ala238Gly)
| |
| 8 | g.76983466G>T | CA371556743 | PEX2 | c.713C>A (p.Ala238Asp)
| gnomAD v4 |
| 8 | g.76983467C>A | CA371556746 | PEX2 | c.712G>T (p.Ala238Ser)
| |
| 8 | g.76983467C>G | CA371556745 | PEX2 | c.712G>C (p.Ala238Pro)
| |
| 8 | g.76983467C>T | CA371556744 | PEX2 | c.712G>A (p.Ala238Thr)
| |
| 8 | g.76983468T>A | CA371556747 | PEX2 | c.711A>T (p.Leu237Phe)
| |
| 8 | g.76983468T>C | CA461773208 | PEX2 | c.711A>G (p.Leu237=)
| |
| 8 | g.76983468T>G | CA371556748 | PEX2 | c.711A>C (p.Leu237Phe)
| |
| 8 | g.76983469A>C | CA371556749 | PEX2 | c.710T>G (p.Leu237Ter)
| |
| 8 | g.76983469A>G | CA371556750 | PEX2 | c.710T>C (p.Leu237Ser)
| |
| 8 | g.76983469A>T | CA371556751 | PEX2 | c.710T>A (p.Leu237Ter)
| |
| 8 | g.76983470A= | CA1795351001 | PEX2 | c.709T= (p.Leu237=)
| |
| 8 | g.76983470A>C | CA371556752 | PEX2 | c.709T>G (p.Leu237Val)
| |
| 8 | g.76983470A>G | CA461773209 | PEX2 | c.709T>C (p.Leu237=)
| |
| 8 | g.76983470A>T | CA371556753 | PEX2 | c.709T>A (p.Leu237Ile)
| |
| 8 | g.76983471T>A | CA461773213 | PEX2 | c.708A>T (p.Thr236=)
| |
| 8 | g.76983471T>C | CA461773211 | PEX2 | c.708A>G (p.Thr236=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983471T>G | CA461773210 | PEX2 | c.708A>C (p.Thr236=)
| ClinVar |
| 8 | g.76983471T= | CA1795351005 | PEX2 | c.708A= (p.Thr236=)
| |
| 8 | g.76983471dup | CA1795351003 | PEX2 | c.708dup (p.Leu237IlefsTer24)
| dbSNP |
| 8 | g.76983472_76983478del | CA913141892 | PEX2 | c.702_708del (p.Asn235Ter)
| |
| 8 | g.76983472G>A | CA371556754 | PEX2 | c.707C>T (p.Thr236Ile)
| gnomAD v4 |
| 8 | g.76983472G>C | CA371556755 | PEX2 | c.707C>G (p.Thr236Arg)
| |
| 8 | g.76983472G= | CA1795351012 | PEX2 | c.707C= (p.Thr236=)
| |
| 8 | g.76983472G>T | CA371556756 | PEX2 | c.707C>A (p.Thr236Lys)
| dbSNP gnomAD v4 |
| 8 | g.76983472_76983478delinsGTATTGT | CA1795351011 | PEX2 | c.701_707delinsACAATAC (p.Asp234=)
| |
| 8 | g.76983473T>A | CA371556757 | PEX2 | c.706A>T (p.Thr236Ser)
| |
| 8 | g.76983473T>C | CA371556758 | PEX2 | c.706A>G (p.Thr236Ala)
| |
| 8 | g.76983473T>G | CA371556759 | PEX2 | c.706A>C (p.Thr236Pro)
| |
| 8 | g.76983473_76983478del | CA658821643 | PEX2 | c.701_706del (p.Asp234_Thr236delinsAla)
| ClinVar dbSNP |
| 8 | g.76983474A= | CA1795351017 | PEX2 | c.705T= (p.Asn235=)
| |
| 8 | g.76983474A>C | CA371556760 | PEX2 | c.705T>G (p.Asn235Lys)
| |
| 8 | g.76983474A>G | CA461773216 | PEX2 | c.705T>C (p.Asn235=)
| gnomAD v4 |
| 8 | g.76983474A>T | CA4788665 | PEX2 | c.705T>A (p.Asn235Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983475T>A | CA371556761 | PEX2 | c.704A>T (p.Asn235Ile)
| gnomAD v4 |
| 8 | g.76983475T>C | CA179988257 | PEX2 | c.704A>G (p.Asn235Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983475T>G | CA371556762 | PEX2 | c.704A>C (p.Asn235Thr)
| |
| 8 | g.76983475T= | CA1795351021 | PEX2 | c.704A= (p.Asn235=)
| |
| 8 | g.76983476T>A | CA371556763 | PEX2 | c.703A>T (p.Asn235Tyr)
| gnomAD v4 |
| 8 | g.76983476T>C | CA371556764 | PEX2 | c.703A>G (p.Asn235Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983476T>G | CA371556765 | PEX2 | c.703A>C (p.Asn235His)
| gnomAD v4 |
| 8 | g.76983476T= | CA1795351025 | PEX2 | c.703A= (p.Asn235=)
| |
| 8 | g.76983476_76983479del | CA2780922342 | PEX2 | c.700_703del (p.Asp234IlefsTer3)
| |
| 8 | g.76983477G>A | CA461773218 | PEX2 | c.702C>T (p.Asp234=)
| gnomAD v4 |
| 8 | g.76983477G>C | CA371556766 | PEX2 | c.702C>G (p.Asp234Glu)
| |
| 8 | g.76983477G>T | CA371556767 | PEX2 | c.702C>A (p.Asp234Glu)
| |
| 8 | g.76983478T>A | CA371556768 | PEX2 | c.701A>T (p.Asp234Val)
| |
| 8 | g.76983478T>C | CA371556769 | PEX2 | c.701A>G (p.Asp234Gly)
| |
| 8 | g.76983478T>G | CA371556770 | PEX2 | c.701A>C (p.Asp234Ala)
| |
| 8 | g.76983479C>A | CA371556771 | PEX2 | c.700G>T (p.Asp234Tyr)
| |
| 8 | g.76983479C>G | CA371556772 | PEX2 | c.700G>C (p.Asp234His)
| |
| 8 | g.76983479C>T | CA371556773 | PEX2 | c.700G>A (p.Asp234Asn)
| |
| 8 | g.76983480A>C | CA371556775 | PEX2 | c.699T>G (p.Ser233Arg)
| |
| 8 | g.76983480A>G | CA461773220 | PEX2 | c.699T>C (p.Ser233=)
| |
| 8 | g.76983480A>T | CA371556774 | PEX2 | c.699T>A (p.Ser233Arg)
| |
| 8 | g.76983481C>A | CA371556776 | PEX2 | c.698G>T (p.Ser233Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983481C= | CA1795351032 | PEX2 | c.698G= (p.Ser233=)
| |
| 8 | g.76983481C>G | CA371556777 | PEX2 | c.698G>C (p.Ser233Thr)
| |
| 8 | g.76983481C>T | CA4788666 | PEX2 | c.698G>A (p.Ser233Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983482T>A | CA371556778 | PEX2 | c.697A>T (p.Ser233Cys)
| |
| 8 | g.76983482T>C | CA371556779 | PEX2 | c.697A>G (p.Ser233Gly)
| |
| 8 | g.76983482T>G | CA371556780 | PEX2 | c.697A>C (p.Ser233Arg)
| |
| 8 | g.76983483A>C | CA371556782 | PEX2 | c.696T>G (p.Asn232Lys)
| |
| 8 | g.76983483A>G | CA461773224 | PEX2 | c.696T>C (p.Asn232=)
| gnomAD v4 |
| 8 | g.76983483A>T | CA371556781 | PEX2 | c.696T>A (p.Asn232Lys)
| |
| 8 | g.76983484T>A | CA371556783 | PEX2 | c.695A>T (p.Asn232Ile)
| |
| 8 | g.76983484T>C | CA371556784 | PEX2 | c.695A>G (p.Asn232Ser)
| dbSNP |
| 8 | g.76983484T>G | CA371556785 | PEX2 | c.695A>C (p.Asn232Thr)
| |
| 8 | g.76983484T= | CA1795351037 | PEX2 | c.695A= (p.Asn232=)
| |
| 8 | g.76983485T>A | CA371556786 | PEX2 | c.694A>T (p.Asn232Tyr)
| |
| 8 | g.76983485T>C | CA371556787 | PEX2 | c.694A>G (p.Asn232Asp)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983485T>G | CA371556788 | PEX2 | c.694A>C (p.Asn232His)
| dbSNP gnomAD v4 |
| 8 | g.76983485T= | CA1795351040 | PEX2 | c.694A= (p.Asn232=)
| |
| 8 | g.76983486A>C | CA461773225 | PEX2 | c.693T>G (p.Pro231=)
| ClinVar |
| 8 | g.76983486A>G | CA461773226 | PEX2 | c.693T>C (p.Pro231=)
| ClinVar |
| 8 | g.76983486A>T | CA461773227 | PEX2 | c.693T>A (p.Pro231=)
| ClinVar |
| 8 | g.76983487G>A | CA371556789 | PEX2 | c.692C>T (p.Pro231Leu)
| gnomAD v4 |
| 8 | g.76983487G>C | CA371556791 | PEX2 | c.692C>G (p.Pro231Arg)
| |
| 8 | g.76983487G>T | CA371556790 | PEX2 | c.692C>A (p.Pro231His)
| |
| 8 | g.76983488G>A | CA371556792 | PEX2 | c.691C>T (p.Pro231Ser)
| |
| 8 | g.76983488G>C | CA371556793 | PEX2 | c.691C>G (p.Pro231Ala)
| |
| 8 | g.76983488G>T | CA371556794 | PEX2 | c.691C>A (p.Pro231Thr)
| |
| 8 | g.76983489T>A | CA461773230 | PEX2 | c.690A>T (p.Ala230=)
| |
| 8 | g.76983489T>C | CA461773231 | PEX2 | c.690A>G (p.Ala230=)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983489T>G | CA461773232 | PEX2 | c.690A>C (p.Ala230=)
| |
| 8 | g.76983489T= | CA1795351042 | PEX2 | c.690A= (p.Ala230=)
| |
| 8 | g.76983490G>A | CA371556795 | PEX2 | c.689C>T (p.Ala230Val)
| gnomAD v4 |
| 8 | g.76983490G>C | CA371556796 | PEX2 | c.689C>G (p.Ala230Gly)
| |
| 8 | g.76983490G>T | CA371556797 | PEX2 | c.689C>A (p.Ala230Glu)
| |
| 8 | g.76983491C>A | CA371556798 | PEX2 | c.688G>T (p.Ala230Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983491C= | CA1795351045 | PEX2 | c.688G= (p.Ala230=)
| |
| 8 | g.76983491C>G | CA371556799 | PEX2 | c.688G>C (p.Ala230Pro)
| dbSNP |
| 8 | g.76983491C>T | CA371556800 | PEX2 | c.688G>A (p.Ala230Thr)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983492A= | CA1795351048 | PEX2 | c.687T= (p.Gly229=)
| |
| 8 | g.76983492A>C | CA461773234 | PEX2 | c.687T>G (p.Gly229=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983492A>G | CA461773235 | PEX2 | c.687T>C (p.Gly229=)
| gnomAD v4 |
| 8 | g.76983492A>T | CA461773236 | PEX2 | c.687T>A (p.Gly229=)
| |
| 8 | g.76983493C>A | CA371556801 | PEX2 | c.686G>T (p.Gly229Val)
| |
| 8 | g.76983493C>G | CA371556802 | PEX2 | c.686G>C (p.Gly229Ala)
| |
| 8 | g.76983493C>T | CA371556803 | PEX2 | c.686G>A (p.Gly229Asp)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983494C>A | CA371556805 | PEX2 | c.685G>T (p.Gly229Cys)
| |
| 8 | g.76983494C= | CA1795351051 | PEX2 | c.685G= (p.Gly229=)
| |
| 8 | g.76983494C>G | CA371556806 | PEX2 | c.685G>C (p.Gly229Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983494C>T | CA371556804 | PEX2 | c.685G>A (p.Gly229Ser)
| COSMIC |
| 8 | g.76983495A>C | CA461773242 | PEX2 | c.684T>G (p.Thr228=)
| |
| 8 | g.76983495A>G | CA461773241 | PEX2 | c.684T>C (p.Thr228=)
| gnomAD v4 |
| 8 | g.76983495A>T | CA461773240 | PEX2 | c.684T>A (p.Thr228=)
| |
| 8 | g.76983496G>A | CA371556808 | PEX2 | c.683C>T (p.Thr228Ile)
| |
| 8 | g.76983496G>C | CA371556807 | PEX2 | c.683C>G (p.Thr228Ser)
| |
| 8 | g.76983496G>T | CA371556809 | PEX2 | c.683C>A (p.Thr228Asn)
| |
| 8 | g.76983497T>A | CA4788667 | PEX2 | c.682A>T (p.Thr228Ser)
| dbSNP ExAC gnomAD v2 |
| 8 | g.76983497T>C | CA371556811 | PEX2 | c.682A>G (p.Thr228Ala)
| |
| 8 | g.76983497T>G | CA371556810 | PEX2 | c.682A>C (p.Thr228Pro)
| |
| 8 | g.76983497T= | CA1795351053 | PEX2 | c.682A= (p.Thr228=)
| |
| 8 | g.76983498A>C | CA461773244 | PEX2 | c.681T>G (p.Leu227=)
| |
| 8 | g.76983498A>G | CA461773245 | PEX2 | c.681T>C (p.Leu227=)
| ClinVar |
| 8 | g.76983498A>T | CA461773246 | PEX2 | c.681T>A (p.Leu227=)
| COSMIC |
| 8 | g.76983499A= | CA1795351055 | PEX2 | c.680T= (p.Leu227=)
| |
| 8 | g.76983499A>C | CA371556812 | PEX2 | c.680T>G (p.Leu227Arg)
| |
| 8 | g.76983499A>G | CA371556813 | PEX2 | c.680T>C (p.Leu227Pro)
| dbSNP gnomAD v2 |
| 8 | g.76983499A>T | CA371556814 | PEX2 | c.680T>A (p.Leu227His)
| |
| 8 | g.76983500G>A | CA371556815 | PEX2 | c.679C>T (p.Leu227Phe)
| COSMIC |
| 8 | g.76983500G>C | CA371556816 | PEX2 | c.679C>G (p.Leu227Val)
| |
| 8 | g.76983500G>T | CA371556817 | PEX2 | c.679C>A (p.Leu227Ile)
| |
| 8 | g.76983501A>C | CA461773248 | PEX2 | c.678T>G (p.Pro226=)
| |
| 8 | g.76983501A>G | CA461773250 | PEX2 | c.678T>C (p.Pro226=)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983501A>T | CA461773249 | PEX2 | c.678T>A (p.Pro226=)
| COSMIC |
| 8 | g.76983502G>A | CA4788668 | PEX2 | c.677C>T (p.Pro226Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983502G>C | CA371556818 | PEX2 | c.677C>G (p.Pro226Arg)
| |
| 8 | g.76983502G= | CA1795351057 | PEX2 | c.677C= (p.Pro226=)
| |
| 8 | g.76983502G>T | CA371556819 | PEX2 | c.677C>A (p.Pro226His)
| |
| 8 | g.76983503del | CA2579209534 | PEX2 | c.677del (p.Pro226LeufsTer12)
| |
