| 8 | g.76983363_76983365del | CA4788648 | PEX2 | c.816_818del (p.Phe272del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983365A>C | CA371556512 | PEX2 | c.814T>G (p.Phe272Val)
| |
| 8 | g.76983365A>G | CA371556513 | PEX2 | c.814T>C (p.Phe272Leu)
| |
| 8 | g.76983365A>T | CA371556514 | PEX2 | c.814T>A (p.Phe272Ile)
| |
| 8 | g.76983366A>C | CA371556515 | PEX2 | c.813T>G (p.Ser271Arg)
| |
| 8 | g.76983366A>G | CA461773150 | PEX2 | c.813T>C (p.Ser271=)
| |
| 8 | g.76983366A>T | CA371556516 | PEX2 | c.813T>A (p.Ser271Arg)
| |
| 8 | g.76983367C>A | CA371556517 | PEX2 | c.812G>T (p.Ser271Ile)
| |
| 8 | g.76983367C= | CA1795350860 | PEX2 | c.812G= (p.Ser271=)
| |
| 8 | g.76983367C>G | CA371556518 | PEX2 | c.812G>C (p.Ser271Thr)
| |
| 8 | g.76983367C>T | CA371556519 | PEX2 | c.812G>A (p.Ser271Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983368T>A | CA371556520 | PEX2 | c.811A>T (p.Ser271Cys)
| |
| 8 | g.76983368T>C | CA4788649 | PEX2 | c.811A>G (p.Ser271Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983368T>G | CA371556521 | PEX2 | c.811A>C (p.Ser271Arg)
| |
| 8 | g.76983368T= | CA1795350862 | PEX2 | c.811A= (p.Ser271=)
| |
| 8 | g.76983369A>C | CA371556523 | PEX2 | c.810T>G (p.Ser270Arg)
| |
| 8 | g.76983369A>G | CA461773151 | PEX2 | c.810T>C (p.Ser270=)
| |
| 8 | g.76983369A>T | CA371556522 | PEX2 | c.810T>A (p.Ser270Arg)
| |
| 8 | g.76983370C>A | CA371556524 | PEX2 | c.809G>T (p.Ser270Ile)
| |
| 8 | g.76983370C= | CA1795350864 | PEX2 | c.809G= (p.Ser270=)
| |
| 8 | g.76983370C>G | CA4788650 | PEX2 | c.809G>C (p.Ser270Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983370C>T | CA371556525 | PEX2 | c.809G>A (p.Ser270Asn)
| |
| 8 | g.76983371T>A | CA371556526 | PEX2 | c.808A>T (p.Ser270Cys)
| |
| 8 | g.76983371T>C | CA371556527 | PEX2 | c.808A>G (p.Ser270Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983371T>G | CA371556528 | PEX2 | c.808A>C (p.Ser270Arg)
| |
| 8 | g.76983371T= | CA1795350866 | PEX2 | c.808A= (p.Ser270=)
| |
| 8 | g.76983371_76983372insA | CA2695201488 | PEX2 | c.807_808insT (p.Ser270Ter)
| ClinVar |
| 8 | g.76983372C>A | CA371556530 | PEX2 | c.807G>T (p.Lys269Asn)
| |
| 8 | g.76983372C>G | CA371556529 | PEX2 | c.807G>C (p.Lys269Asn)
| |
| 8 | g.76983372C>T | CA461773152 | PEX2 | c.807G>A (p.Lys269=)
| |
| 8 | g.76983373T>A | CA371556531 | PEX2 | c.806A>T (p.Lys269Met)
| |
| 8 | g.76983373T>C | CA371556532 | PEX2 | c.806A>G (p.Lys269Arg)
| |
| 8 | g.76983373T>G | CA371556533 | PEX2 | c.806A>C (p.Lys269Thr)
| |
| 8 | g.76983374T>A | CA371556534 | PEX2 | c.805A>T (p.Lys269Ter)
| |
| 8 | g.76983374T>C | CA371556535 | PEX2 | c.805A>G (p.Lys269Glu)
| |
| 8 | g.76983374T>G | CA4788651 | PEX2 | c.805A>C (p.Lys269Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983374T= | CA1795350868 | PEX2 | c.805A= (p.Lys269=)
| |
| 8 | g.76983375A>C | CA461773153 | PEX2 | c.804T>G (p.Ala268=)
| |
| 8 | g.76983375A>G | CA461773154 | PEX2 | c.804T>C (p.Ala268=)
| COSMIC |
| 8 | g.76983375A>T | CA461773155 | PEX2 | c.804T>A (p.Ala268=)
| |
| 8 | g.76983376G>A | CA371556536 | PEX2 | c.803C>T (p.Ala268Val)
| |
| 8 | g.76983376G>C | CA371556538 | PEX2 | c.803C>G (p.Ala268Gly)
| |
| 8 | g.76983376G>T | CA371556537 | PEX2 | c.803C>A (p.Ala268Asp)
| |
| 8 | g.76983377C>A | CA371556539 | PEX2 | c.802G>T (p.Ala268Ser)
| |
| 8 | g.76983377C= | CA1795350870 | PEX2 | c.802G= (p.Ala268=)
| |
| 8 | g.76983377C>G | CA371556540 | PEX2 | c.802G>C (p.Ala268Pro)
| dbSNP |
| 8 | g.76983377C>T | CA371556541 | PEX2 | c.802G>A (p.Ala268Thr)
| |
| 8 | g.76983378A>C | CA371556542 | PEX2 | c.801T>G (p.Cys267Trp)
| |
| 8 | g.76983378A>G | CA461773156 | PEX2 | c.801T>C (p.Cys267=)
| |
| 8 | g.76983378A>T | CA371556543 | PEX2 | c.801T>A (p.Cys267Ter)
| |
| 8 | g.76983379C>A | CA371556544 | PEX2 | c.800G>T (p.Cys267Phe)
| |
| 8 | g.76983379C>G | CA371556545 | PEX2 | c.800G>C (p.Cys267Ser)
| |
| 8 | g.76983379C>T | CA371556546 | PEX2 | c.800G>A (p.Cys267Tyr)
| |
| 8 | g.76983380A= | CA1795350872 | PEX2 | c.799T= (p.Cys267=)
| |
| 8 | g.76983380A>C | CA371556547 | PEX2 | c.799T>G (p.Cys267Gly)
| dbSNP |
| 8 | g.76983380A>G | CA371556548 | PEX2 | c.799T>C (p.Cys267Arg)
| |
| 8 | g.76983380A>T | CA371556549 | PEX2 | c.799T>A (p.Cys267Ser)
| |
| 8 | g.76983381G>A | CA4788652 | PEX2 | c.798C>T (p.Phe266=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983381G>C | CA371556551 | PEX2 | c.798C>G (p.Phe266Leu)
| gnomAD v4 |
| 8 | g.76983381G= | CA1795350874 | PEX2 | c.798C= (p.Phe266=)
| |
| 8 | g.76983381G>T | CA371556550 | PEX2 | c.798C>A (p.Phe266Leu)
| |
| 8 | g.76983382A>C | CA371556552 | PEX2 | c.797T>G (p.Phe266Cys)
| |
| 8 | g.76983382A>G | CA371556553 | PEX2 | c.797T>C (p.Phe266Ser)
| |
| 8 | g.76983382A>T | CA371556554 | PEX2 | c.797T>A (p.Phe266Tyr)
| |
| 8 | g.76983383_76983387del | CA2573143375 | PEX2 | c.793_797del (p.Tyr265LeufsTer3)
| ClinVar dbSNP |
| 8 | g.76983383A>C | CA371556555 | PEX2 | c.796T>G (p.Phe266Val)
| |
| 8 | g.76983383A>G | CA371556556 | PEX2 | c.796T>C (p.Phe266Leu)
| |
| 8 | g.76983383A>T | CA371556557 | PEX2 | c.796T>A (p.Phe266Ile)
| |
| 8 | g.76983383_76983388delinsAATAAC | CA1795350876 | PEX2 | c.791_796delinsGTTATT (p.Cys264=)
| |
| 8 | g.76983384A= | CA1795350880 | PEX2 | c.795T= (p.Tyr265=)
| |
| 8 | g.76983384A>C | CA371556558 | PEX2 | c.795T>G (p.Tyr265Ter)
| |
| 8 | g.76983384A>G | CA4788653 | PEX2 | c.795T>C (p.Tyr265=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983384A>T | CA371556559 | PEX2 | c.795T>A (p.Tyr265Ter)
| gnomAD v4 |
| 8 | g.76983385_76983389del | CA855436104 | PEX2 | c.791_795del (p.Cys264PhefsTer4)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983385T>A | CA371556560 | PEX2 | c.794A>T (p.Tyr265Phe)
| gnomAD v4 |
| 8 | g.76983385T>C | CA371556561 | PEX2 | c.794A>G (p.Tyr265Cys)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983385T>G | CA371556562 | PEX2 | c.794A>C (p.Tyr265Ser)
| |
| 8 | g.76983386A>C | CA371556565 | PEX2 | c.793T>G (p.Tyr265Asp)
| |
| 8 | g.76983386A>G | CA371556564 | PEX2 | c.793T>C (p.Tyr265His)
| |
| 8 | g.76983386A>T | CA371556563 | PEX2 | c.793T>A (p.Tyr265Asn)
| |
| 8 | g.76983387A>C | CA371556566 | PEX2 | c.792T>G (p.Cys264Trp)
| |
| 8 | g.76983387A>G | CA461773157 | PEX2 | c.792T>C (p.Cys264=)
| |
| 8 | g.76983387A>T | CA371556567 | PEX2 | c.792T>A (p.Cys264Ter)
| |
| 8 | g.76983388C>A | CA371556568 | PEX2 | c.791G>T (p.Cys264Phe)
| gnomAD v4 |
| 8 | g.76983388C>G | CA371556570 | PEX2 | c.791G>C (p.Cys264Ser)
| gnomAD v4 |
| 8 | g.76983388C>T | CA371556569 | PEX2 | c.791G>A (p.Cys264Tyr)
| |
| 8 | g.76983388_76983390delinsCAG | CA1795350884 | PEX2 | c.789_791delinsCTG (p.Phe263=)
| |
| 8 | g.76983389A>C | CA371556571 | PEX2 | c.790T>G (p.Cys264Gly)
| |
| 8 | g.76983389A>G | CA371556573 | PEX2 | c.790T>C (p.Cys264Arg)
| |
| 8 | g.76983389A>T | CA371556572 | PEX2 | c.790T>A (p.Cys264Ser)
| |
| 8 | g.76983390_76983391del | CA1115556724 | PEX2 | c.789_790del (p.Phe263LeufsTer6)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983390G>A | CA461773158 | PEX2 | c.789C>T (p.Phe263=)
| |
| 8 | g.76983390G>C | CA371556574 | PEX2 | c.789C>G (p.Phe263Leu)
| |
| 8 | g.76983390G= | CA1795350887 | PEX2 | c.789C= (p.Phe263=)
| |
| 8 | g.76983390G>T | CA371556575 | PEX2 | c.789C>A (p.Phe263Leu)
| dbSNP |
| 8 | g.76983391A>C | CA371556576 | PEX2 | c.788T>G (p.Phe263Cys)
| |
| 8 | g.76983391A>G | CA371556578 | PEX2 | c.788T>C (p.Phe263Ser)
| |
| 8 | g.76983391A>T | CA371556577 | PEX2 | c.788T>A (p.Phe263Tyr)
| |
| 8 | g.76983392A>C | CA371556579 | PEX2 | c.787T>G (p.Phe263Val)
| |
| 8 | g.76983392A>G | CA371556580 | PEX2 | c.787T>C (p.Phe263Leu)
| |
| 8 | g.76983392A>T | CA371556581 | PEX2 | c.787T>A (p.Phe263Ile)
| |
| 8 | g.76983393A= | CA1795350889 | PEX2 | c.786T= (p.Ile262=)
| |
| 8 | g.76983393A>C | CA371556582 | PEX2 | c.786T>G (p.Ile262Met)
| dbSNP |
| 8 | g.76983393A>G | CA461773159 | PEX2 | c.786T>C (p.Ile262=)
| gnomAD v4 |
| 8 | g.76983393A>T | CA461773160 | PEX2 | c.786T>A (p.Ile262=)
| |
| 8 | g.76983394A>C | CA371556583 | PEX2 | c.785T>G (p.Ile262Ser)
| |
| 8 | g.76983394A>G | CA371556584 | PEX2 | c.785T>C (p.Ile262Thr)
| |
| 8 | g.76983394A>T | CA371556585 | PEX2 | c.785T>A (p.Ile262Asn)
| |
| 8 | g.76983395T>A | CA371556586 | PEX2 | c.784A>T (p.Ile262Phe)
| |
| 8 | g.76983395T>C | CA371556587 | PEX2 | c.784A>G (p.Ile262Val)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983395T>G | CA371556588 | PEX2 | c.784A>C (p.Ile262Leu)
| |
| 8 | g.76983395T= | CA1795350891 | PEX2 | c.784A= (p.Ile262=)
| |
| 8 | g.76983396A= | CA1795350893 | PEX2 | c.783T= (p.His261=)
| |
| 8 | g.76983396A>C | CA371556589 | PEX2 | c.783T>G (p.His261Gln)
| |
| 8 | g.76983396A>G | CA461773161 | PEX2 | c.783T>C (p.His261=)
| ClinVar dbSNP |
| 8 | g.76983396A>T | CA371556590 | PEX2 | c.783T>A (p.His261Gln)
| |
| 8 | g.76983397T>A | CA371556592 | PEX2 | c.782A>T (p.His261Leu)
| |
| 8 | g.76983397T>C | CA4788654 | PEX2 | c.782A>G (p.His261Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983397T>G | CA371556591 | PEX2 | c.782A>C (p.His261Pro)
| |
| 8 | g.76983397T= | CA1795350897 | PEX2 | c.782A= (p.His261=)
| |
| 8 | g.76983398G>A | CA371556593 | PEX2 | c.781C>T (p.His261Tyr)
| COSMIC |
| 8 | g.76983398G>C | CA371556594 | PEX2 | c.781C>G (p.His261Asp)
| gnomAD v4 |
| 8 | g.76983398G>T | CA371556595 | PEX2 | c.781C>A (p.His261Asn)
| |
| 8 | g.76983399C>A | CA371556596 | PEX2 | c.780G>T (p.Glu260Asp)
| |
| 8 | g.76983399C>G | CA371556597 | PEX2 | c.780G>C (p.Glu260Asp)
| |
| 8 | g.76983399C>T | CA461773162 | PEX2 | c.780G>A (p.Glu260=)
| gnomAD v4 |
| 8 | g.76983400T>A | CA371556598 | PEX2 | c.779A>T (p.Glu260Val)
| |
| 8 | g.76983400T>C | CA371556599 | PEX2 | c.779A>G (p.Glu260Gly)
| |
| 8 | g.76983400T>G | CA371556600 | PEX2 | c.779A>C (p.Glu260Ala)
| |
| 8 | g.76983401C>A | CA371556601 | PEX2 | c.778G>T (p.Glu260Ter)
| |
| 8 | g.76983401C>G | CA371556602 | PEX2 | c.778G>C (p.Glu260Gln)
| |
| 8 | g.76983401C>T | CA371556603 | PEX2 | c.778G>A (p.Glu260Lys)
| COSMIC |
| 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=)
| |
