| 8 | g.76983839_76983845del | CA4788726 | PEX2 | c.339_345del (p.Arg114Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983844C>A | CA371557570 | PEX2 | c.335G>T (p.Gly112Val)
| gnomAD v4 |
| 8 | g.76983844C= | CA1795351648 | PEX2 | c.335G= (p.Gly112=)
| |
| 8 | g.76983844C>G | CA4788730 | PEX2 | c.335G>C (p.Gly112Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983844C>T | CA371557571 | PEX2 | c.335G>A (p.Gly112Asp)
| |
| 8 | g.76983845C>A | CA371557574 | PEX2 | c.334G>T (p.Gly112Cys)
| gnomAD v4 |
| 8 | g.76983845C>G | CA371557572 | PEX2 | c.334G>C (p.Gly112Arg)
| |
| 8 | g.76983845C>T | CA371557573 | PEX2 | c.334G>A (p.Gly112Ser)
| |
| 8 | g.76983846A= | CA1795351649 | PEX2 | c.333T= (p.Ile111=)
| |
| 8 | g.76983846A>C | CA371557575 | PEX2 | c.333T>G (p.Ile111Met)
| |
| 8 | g.76983846A>G | CA461773337 | PEX2 | c.333T>C (p.Ile111=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983846A>T | CA461773338 | PEX2 | c.333T>A (p.Ile111=)
| |
| 8 | g.76983847A= | CA1795351650 | PEX2 | c.332T= (p.Ile111=)
| |
| 8 | g.76983847A>C | CA371557576 | PEX2 | c.332T>G (p.Ile111Ser)
| gnomAD v4 |
| 8 | g.76983847A>G | CA4788731 | PEX2 | c.332T>C (p.Ile111Thr)
| dbSNP ExAC gnomAD v2 |
| 8 | g.76983847A>T | CA371557578 | PEX2 | c.332T>A (p.Ile111Asn)
| |
| 8 | g.76983848T>A | CA371557579 | PEX2 | c.331A>T (p.Ile111Phe)
| gnomAD v4 |
| 8 | g.76983848T>C | CA4788732 | PEX2 | c.331A>G (p.Ile111Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983848T>G | CA371557580 | PEX2 | c.331A>C (p.Ile111Leu)
| |
| 8 | g.76983848T= | CA1795351651 | PEX2 | c.331A= (p.Ile111=)
| |
| 8 | g.76983849T>A | CA461773343 | PEX2 | c.330A>T (p.Thr110=)
| |
| 8 | g.76983849T>C | CA461773344 | PEX2 | c.330A>G (p.Thr110=)
| |
| 8 | g.76983849T>G | CA461773342 | PEX2 | c.330A>C (p.Thr110=)
| |
| 8 | g.76983850G>A | CA371557581 | PEX2 | c.329C>T (p.Thr110Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983850G>C | CA371557582 | PEX2 | c.329C>G (p.Thr110Arg)
| |
| 8 | g.76983850G= | CA1795351652 | PEX2 | c.329C= (p.Thr110=)
| |
| 8 | g.76983850G>T | CA371557583 | PEX2 | c.329C>A (p.Thr110Lys)
| |
| 8 | g.76983851T>A | CA371557584 | PEX2 | c.328A>T (p.Thr110Ser)
| |
| 8 | g.76983851T>C | CA371557585 | PEX2 | c.328A>G (p.Thr110Ala)
| |
| 8 | g.76983851T>G | CA371557586 | PEX2 | c.328A>C (p.Thr110Pro)
| |
| 8 | g.76983852A= | CA1795351653 | PEX2 | c.327T= (p.Cys109=)
| |
| 8 | g.76983852A>C | CA371557587 | PEX2 | c.327T>G (p.Cys109Trp)
| |
| 8 | g.76983852A>G | CA4788733 | PEX2 | c.327T>C (p.Cys109=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983852A>T | CA371557588 | PEX2 | c.327T>A (p.Cys109Ter)
| |
| 8 | g.76983853C>A | CA371557589 | PEX2 | c.326G>T (p.Cys109Phe)
| |
| 8 | g.76983853C= | CA1795351654 | PEX2 | c.326G= (p.Cys109=)
| |
| 8 | g.76983853C>G | CA371557590 | PEX2 | c.326G>C (p.Cys109Ser)
| |
| 8 | g.76983853C>T | CA371557591 | PEX2 | c.326G>A (p.Cys109Tyr)
| |
| 8 | g.76983855_76983861del | CA2739268833 | PEX2 | c.320_326del (p.Ala107ValfsTer8)
| ClinVar |
| 8 | g.76983854A= | CA1795351655 | PEX2 | c.325T= (p.Cys109=)
| |
| 8 | g.76983854A>C | CA371557592 | PEX2 | c.325T>G (p.Cys109Gly)
| |
| 8 | g.76983854A>G | CA179988273 | PEX2 | c.325T>C (p.Cys109Arg)
| dbSNP |
| 8 | g.76983854A>T | CA371557593 | PEX2 | c.325T>A (p.Cys109Ser)
| |
| 8 | g.76983856dup | CA179988272 | PEX2 | c.325dup (p.Cys109LeufsTer14)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983855A>C | CA461773346 | PEX2 | c.324T>G (p.Val108=)
| |
| 8 | g.76983855A>G | CA461773347 | PEX2 | c.324T>C (p.Val108=)
| COSMIC |
| 8 | g.76983855A>T | CA461773348 | PEX2 | c.324T>A (p.Val108=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983856A= | CA1795351656 | PEX2 | c.323T= (p.Val108=)
| |
| 8 | g.76983856A>C | CA371557594 | PEX2 | c.323T>G (p.Val108Gly)
| dbSNP |
| 8 | g.76983856A>G | CA371557595 | PEX2 | c.323T>C (p.Val108Ala)
| |
| 8 | g.76983856A>T | CA371557596 | PEX2 | c.323T>A (p.Val108Asp)
| |
| 8 | g.76983857C>A | CA371557597 | PEX2 | c.322G>T (p.Val108Phe)
| |
| 8 | g.76983857C= | CA1795351657 | PEX2 | c.322G= (p.Val108=)
| |
| 8 | g.76983857C>G | CA4788734 | PEX2 | c.322G>C (p.Val108Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983857C>T | CA371557598 | PEX2 | c.322G>A (p.Val108Ile)
| dbSNP |
| 8 | g.76983858A= | CA1795351658 | PEX2 | c.321T= (p.Ala107=)
| |
| 8 | g.76983858A>C | CA461773352 | PEX2 | c.321T>G (p.Ala107=)
| |
| 8 | g.76983858A>G | CA4788735 | PEX2 | c.321T>C (p.Ala107=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983858A>T | CA461773353 | PEX2 | c.321T>A (p.Ala107=)
| |
| 8 | g.76983859G>A | CA371557601 | PEX2 | c.320C>T (p.Ala107Val)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983859G>C | CA371557599 | PEX2 | c.320C>G (p.Ala107Gly)
| |
| 8 | g.76983859G>T | CA371557600 | PEX2 | c.320C>A (p.Ala107Asp)
| ClinVar |
| 8 | g.76983860C>A | CA371557602 | PEX2 | c.319G>T (p.Ala107Ser)
| |
| 8 | g.76983860C= | CA1795351659 | PEX2 | c.319G= (p.Ala107=)
| |
| 8 | g.76983860C>G | CA371557603 | PEX2 | c.319G>C (p.Ala107Pro)
| |
| 8 | g.76983860C>T | CA371557604 | PEX2 | c.319G>A (p.Ala107Thr)
| dbSNP |
| 8 | g.76983861A>C | CA371557605 | PEX2 | c.318T>G (p.Tyr106Ter)
| |
| 8 | g.76983861A>G | CA461773357 | PEX2 | c.318T>C (p.Tyr106=)
| |
| 8 | g.76983861A>T | CA371557606 | PEX2 | c.318T>A (p.Tyr106Ter)
| ClinVar |
| 8 | g.76983862T>A | CA371557607 | PEX2 | c.317A>T (p.Tyr106Phe)
| |
| 8 | g.76983862T>C | CA371557608 | PEX2 | c.317A>G (p.Tyr106Cys)
| gnomAD v4 |
| 8 | g.76983862T>G | CA371557609 | PEX2 | c.317A>C (p.Tyr106Ser)
| |
| 8 | g.76983863A>C | CA371557610 | PEX2 | c.316T>G (p.Tyr106Asp)
| gnomAD v4 |
| 8 | g.76983863A>G | CA371557611 | PEX2 | c.316T>C (p.Tyr106His)
| gnomAD v4 |
| 8 | g.76983863A>T | CA371557612 | PEX2 | c.316T>A (p.Tyr106Asn)
| |
| 8 | g.76983864C>A | CA371557615 | PEX2 | c.315G>T (p.Trp105Cys)
| |
| 8 | g.76983864C>G | CA371557613 | PEX2 | c.315G>C (p.Trp105Cys)
| gnomAD v4 |
| 8 | g.76983864C>T | CA371557614 | PEX2 | c.315G>A (p.Trp105Ter)
| |
| 8 | g.76983865C>A | CA371557616 | PEX2 | c.314G>T (p.Trp105Leu)
| |
| 8 | g.76983865C= | CA1795351660 | PEX2 | c.314G= (p.Trp105=)
| |
| 8 | g.76983865C>G | CA371557617 | PEX2 | c.314G>C (p.Trp105Ser)
| COSMIC |
| 8 | g.76983865C>T | CA179988274 | PEX2 | c.314G>A (p.Trp105Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983866A>C | CA371557618 | PEX2 | c.313T>G (p.Trp105Gly)
| |
| 8 | g.76983866A>G | CA371557619 | PEX2 | c.313T>C (p.Trp105Arg)
| COSMIC |
| 8 | g.76983866A>T | CA371557620 | PEX2 | c.313T>A (p.Trp105Arg)
| |
| 8 | g.76983867G>A | CA461773360 | PEX2 | c.312C>T (p.Ile104=)
| gnomAD v4 COSMIC |
| 8 | g.76983867G>C | CA371557621 | PEX2 | c.312C>G (p.Ile104Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983867G= | CA1795351661 | PEX2 | c.312C= (p.Ile104=)
| |
| 8 | g.76983867G>T | CA461773362 | PEX2 | c.312C>A (p.Ile104=)
| ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.76983868A= | CA1795351662 | PEX2 | c.311T= (p.Ile104=)
| |
| 8 | g.76983868A>C | CA371557624 | PEX2 | c.311T>G (p.Ile104Ser)
| COSMIC |
| 8 | g.76983868A>G | CA371557622 | PEX2 | c.311T>C (p.Ile104Thr)
| |
| 8 | g.76983868A>T | CA371557623 | PEX2 | c.311T>A (p.Ile104Asn)
| |
| 8 | g.76983869T>A | CA371557625 | PEX2 | c.310A>T (p.Ile104Phe)
| |
| 8 | g.76983869T>C | CA371557626 | PEX2 | c.310A>G (p.Ile104Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983869T>G | CA371557627 | PEX2 | c.310A>C (p.Ile104Leu)
| |
| 8 | g.76983869T= | CA1795351663 | PEX2 | c.310A= (p.Ile104=)
| |
| 8 | g.76983874dup | CA461773489 | PEX2 | c.310dup (p.Ile104AsnfsTer19)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983874del | CA2695201489 | PEX2 | c.310del (p.Ile104SerfsTer13)
| ClinVar |
| 8 | g.76983870T>A | CA371557628 | PEX2 | c.309A>T (p.Lys103Asn)
| |
| 8 | g.76983870T>C | CA461773491 | PEX2 | c.309A>G (p.Lys103=)
| gnomAD v4 |
| 8 | g.76983870T>G | CA371557629 | PEX2 | c.309A>C (p.Lys103Asn)
| dbSNP gnomAD v4 |
| 8 | g.76983870T= | CA1795351664 | PEX2 | c.309A= (p.Lys103=)
| |
| 8 | g.76983871T>A | CA371557632 | PEX2 | c.308A>T (p.Lys103Ile)
| |
| 8 | g.76983871T>C | CA371557630 | PEX2 | c.308A>G (p.Lys103Arg)
| |
| 8 | g.76983871T>G | CA371557631 | PEX2 | c.308A>C (p.Lys103Thr)
| |
| 8 | g.76983872T>A | CA371557633 | PEX2 | c.307A>T (p.Lys103Ter)
| |
| 8 | g.76983872T>C | CA371557634 | PEX2 | c.307A>G (p.Lys103Glu)
| |
| 8 | g.76983872T>G | CA371557635 | PEX2 | c.307A>C (p.Lys103Gln)
| |
| 8 | g.76983873T>A | CA4788736 | PEX2 | c.306A>T (p.Gln102His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983873T>C | CA461773495 | PEX2 | c.306A>G (p.Gln102=)
| |
| 8 | g.76983873T>G | CA371557636 | PEX2 | c.306A>C (p.Gln102His)
| |
| 8 | g.76983873T= | CA1795351665 | PEX2 | c.306A= (p.Gln102=)
| |
| 8 | g.76983874T>A | CA371557637 | PEX2 | c.305A>T (p.Gln102Leu)
| |
| 8 | g.76983874T>C | CA371557638 | PEX2 | c.305A>G (p.Gln102Arg)
| |
| 8 | g.76983874T>G | CA371557639 | PEX2 | c.305A>C (p.Gln102Pro)
| |
| 8 | g.76983875G>A | CA371557640 | PEX2 | c.304C>T (p.Gln102Ter)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983875G>C | CA371557641 | PEX2 | c.304C>G (p.Gln102Glu)
| gnomAD v4 |
| 8 | g.76983875G= | CA1795351666 | PEX2 | c.304C= (p.Gln102=)
| |
| 8 | g.76983875G>T | CA4788737 | PEX2 | c.304C>A (p.Gln102Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983876A>C | CA371557642 | PEX2 | c.303T>G (p.Asn101Lys)
| |
| 8 | g.76983876A>G | CA461773499 | PEX2 | c.303T>C (p.Asn101=)
| |
| 8 | g.76983876A>T | CA371557643 | PEX2 | c.303T>A (p.Asn101Lys)
| |
| 8 | g.76983877T>A | CA371557644 | PEX2 | c.302A>T (p.Asn101Ile)
| |
| 8 | g.76983877T>C | CA4788738 | PEX2 | c.302A>G (p.Asn101Ser)
| dbSNP ExAC gnomAD v2 |
| 8 | g.76983877T>G | CA371557645 | PEX2 | c.302A>C (p.Asn101Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983877T= | CA1795351667 | PEX2 | c.302A= (p.Asn101=)
| |
| 8 | g.76983878T>A | CA371557646 | PEX2 | c.301A>T (p.Asn101Tyr)
| |
| 8 | g.76983878T>C | CA371557647 | PEX2 | c.301A>G (p.Asn101Asp)
| |
| 8 | g.76983878T>G | CA371557648 | PEX2 | c.301A>C (p.Asn101His)
| |
| 8 | g.76983879T>A | CA371557649 | PEX2 | c.300A>T (p.Lys100Asn)
| |
| 8 | g.76983879T>C | CA461773505 | PEX2 | c.300A>G (p.Lys100=)
| |
| 8 | g.76983879T>G | CA371557650 | PEX2 | c.300A>C (p.Lys100Asn)
| |
| 8 | g.76983880T>A | CA371557651 | PEX2 | c.299A>T (p.Lys100Ile)
| |
| 8 | g.76983880T>C | CA371557652 | PEX2 | c.299A>G (p.Lys100Arg)
| |
| 8 | g.76983880T>G | CA371557653 | PEX2 | c.299A>C (p.Lys100Thr)
| |
| 8 | g.76983881T>A | CA371557654 | PEX2 | c.298A>T (p.Lys100Ter)
| |
| 8 | g.76983881T>C | CA371557655 | PEX2 | c.298A>G (p.Lys100Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983881T>G | CA371557656 | PEX2 | c.298A>C (p.Lys100Gln)
| |
| 8 | g.76983881T= | CA1795351668 | PEX2 | c.298A= (p.Lys100=)
| |
| 8 | g.76983882A>C | CA371557657 | PEX2 | c.297T>G (p.Ser99Arg)
| |
| 8 | g.76983882A>G | CA461773513 | PEX2 | c.297T>C (p.Ser99=)
| |
| 8 | g.76983882A>T | CA371557658 | PEX2 | c.297T>A (p.Ser99Arg)
| |
| 8 | g.76983883C>A | CA371557661 | PEX2 | c.296G>T (p.Ser99Ile)
| |
| 8 | g.76983883C>G | CA371557659 | PEX2 | c.296G>C (p.Ser99Thr)
| |
| 8 | g.76983883C>T | CA371557660 | PEX2 | c.296G>A (p.Ser99Asn)
| gnomAD v4 |
| 8 | g.76983884T>A | CA371557662 | PEX2 | c.295A>T (p.Ser99Cys)
| |
| 8 | g.76983884T>C | CA371557663 | PEX2 | c.295A>G (p.Ser99Gly)
| |
| 8 | g.76983884T>G | CA371557664 | PEX2 | c.295A>C (p.Ser99Arg)
| |
| 8 | g.76983885G>A | CA461773519 | PEX2 | c.294C>T (p.Pro98=)
| |
| 8 | g.76983885G>C | CA461773521 | PEX2 | c.294C>G (p.Pro98=)
| |
| 8 | g.76983885G>T | CA461773523 | PEX2 | c.294C>A (p.Pro98=)
| |
| 8 | g.76983886G>A | CA371557665 | PEX2 | c.293C>T (p.Pro98Leu)
| gnomAD v4 |
| 8 | g.76983886G>C | CA371557666 | PEX2 | c.293C>G (p.Pro98Arg)
| |
| 8 | g.76983886G>T | CA371557667 | PEX2 | c.293C>A (p.Pro98His)
| |
| 8 | g.76983887G>A | CA371557668 | PEX2 | c.292C>T (p.Pro98Ser)
| |
| 8 | g.76983887G>C | CA371557669 | PEX2 | c.292C>G (p.Pro98Ala)
| |
| 8 | g.76983887G>T | CA371557670 | PEX2 | c.292C>A (p.Pro98Thr)
| |
| 8 | g.76983888T>A | CA461773528 | PEX2 | c.291A>T (p.Pro97=)
| |
| 8 | g.76983888T>C | CA461773530 | PEX2 | c.291A>G (p.Pro97=)
| |
| 8 | g.76983888T>G | CA461773531 | PEX2 | c.291A>C (p.Pro97=)
| |
| 8 | g.76983889G>A | CA371557671 | PEX2 | c.290C>T (p.Pro97Leu)
| |
| 8 | g.76983889G>C | CA371557672 | PEX2 | c.290C>G (p.Pro97Arg)
| |
| 8 | g.76983889G>T | CA371557673 | PEX2 | c.290C>A (p.Pro97Gln)
| |
| 8 | g.76983890G>A | CA371557674 | PEX2 | c.289C>T (p.Pro97Ser)
| |
| 8 | g.76983890G>C | CA371557675 | PEX2 | c.289C>G (p.Pro97Ala)
| |
| 8 | g.76983890G= | CA1795351669 | PEX2 | c.289C= (p.Pro97=)
| |
| 8 | g.76983890G>T | CA4788739 | PEX2 | c.289C>A (p.Pro97Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983891C>A | CA371557676 | PEX2 | c.288G>T (p.Gln96His)
| |
| 8 | g.76983891C= | CA1795351670 | PEX2 | c.288G= (p.Gln96=)
| |
| 8 | g.76983891C>G | CA371557677 | PEX2 | c.288G>C (p.Gln96His)
| |
| 8 | g.76983891C>T | CA4788740 | PEX2 | c.288G>A (p.Gln96=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983892T>A | CA371557678 | PEX2 | c.287A>T (p.Gln96Leu)
| |
| 8 | g.76983892T>C | CA371557679 | PEX2 | c.287A>G (p.Gln96Arg)
| |
| 8 | g.76983892T>G | CA371557680 | PEX2 | c.287A>C (p.Gln96Pro)
| |
| 8 | g.76983893G>A | CA371557681 | PEX2 | c.286C>T (p.Gln96Ter)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983893G>C | CA371557682 | PEX2 | c.286C>G (p.Gln96Glu)
| |
| 8 | g.76983893G>T | CA371557683 | PEX2 | c.286C>A (p.Gln96Lys)
| |
| 8 | g.76983894A= | CA1795351671 | PEX2 | c.285T= (p.Tyr95=)
| |
| 8 | g.76983894A>C | CA371557684 | PEX2 | c.285T>G (p.Tyr95Ter)
| ClinVar |
| 8 | g.76983894A>G | CA179988275 | PEX2 | c.285T>C (p.Tyr95=)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983894A>T | CA371557685 | PEX2 | c.285T>A (p.Tyr95Ter)
| |
| 8 | g.76983895T>A | CA371557686 | PEX2 | c.284A>T (p.Tyr95Phe)
| |
| 8 | g.76983895T>C | CA371557687 | PEX2 | c.284A>G (p.Tyr95Cys)
| dbSNP |
| 8 | g.76983895T>G | CA371557688 | PEX2 | c.284A>C (p.Tyr95Ser)
| |
| 8 | g.76983895T= | CA1795351673 | PEX2 | c.284A= (p.Tyr95=)
| |
| 8 | g.76983895_76983900delinsTATCTC | CA1795351672 | PEX2 | c.279_284delinsGAGATA (p.Leu93=)
| |
| 8 | g.76983896A>C | CA371557691 | PEX2 | c.283T>G (p.Tyr95Asp)
| |
| 8 | g.76983896A>G | CA371557689 | PEX2 | c.283T>C (p.Tyr95His)
| |
| 8 | g.76983896A>T | CA371557690 | PEX2 | c.283T>A (p.Tyr95Asn)
| |
| 8 | g.76983897_76983901del | CA163283 | PEX2 | c.279_283del (p.Arg94SerfsTer5)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983897T>A | CA4788741 | PEX2 | c.282A>T (p.Arg94Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983897T>C | CA461773548 | PEX2 | c.282A>G (p.Arg94=)
| dbSNP gnomAD v4 |
| 8 | g.76983897T>G | CA371557692 | PEX2 | c.282A>C (p.Arg94Ser)
| |
| 8 | g.76983897T= | CA1795351674 | PEX2 | c.282A= (p.Arg94=)
| |
| 8 | g.76983898C>A | CA371557693 | PEX2 | c.281G>T (p.Arg94Ile)
| |
| 8 | g.76983898C= | CA1795351675 | PEX2 | c.281G= (p.Arg94=)
| |
| 8 | g.76983898C>G | CA371557694 | PEX2 | c.281G>C (p.Arg94Thr)
| |
| 8 | g.76983898C>T | CA371557695 | PEX2 | c.281G>A (p.Arg94Lys)
| dbSNP |
| 8 | g.76983899T>A | CA371557696 | PEX2 | c.280A>T (p.Arg94Ter)
| |
| 8 | g.76983899T>C | CA371557697 | PEX2 | c.280A>G (p.Arg94Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983899T>G | CA461773555 | PEX2 | c.280A>C (p.Arg94=)
| |
| 8 | g.76983899T= | CA1795351676 | PEX2 | c.280A= (p.Arg94=)
| |
| 8 | g.76983900C>A | CA461773558 | PEX2 | c.279G>T (p.Leu93=)
| |
| 8 | g.76983900C>G | CA461773557 | PEX2 | c.279G>C (p.Leu93=)
| |
| 8 | g.76983900C>T | CA461773556 | PEX2 | c.279G>A (p.Leu93=)
| gnomAD v4 |
| 8 | g.76983901A>C | CA371557698 | PEX2 | c.278T>G (p.Leu93Arg)
| |
| 8 | g.76983901A>G | CA371557699 | PEX2 | c.278T>C (p.Leu93Pro)
| ClinVar gnomAD v4 |
| 8 | g.76983901A>T | CA371557700 | PEX2 | c.278T>A (p.Leu93Gln)
| |
| 8 | g.76983902G>A | CA461773559 | PEX2 | c.277C>T (p.Leu93=)
| |
| 8 | g.76983902G>C | CA371557701 | PEX2 | c.277C>G (p.Leu93Val)
| |
| 8 | g.76983902G>T | CA371557702 | PEX2 | c.277C>A (p.Leu93Met)
| |
| 8 | g.76983903G>A | CA4788742 | PEX2 | c.276C>T (p.Asn92=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983903G>C | CA371557703 | PEX2 | c.276C>G (p.Asn92Lys)
| |
| 8 | g.76983903G= | CA1795351677 | PEX2 | c.276C= (p.Asn92=)
| |
| 8 | g.76983903G>T | CA371557704 | PEX2 | c.276C>A (p.Asn92Lys)
| |
| 8 | g.76983904T>A | CA371557705 | PEX2 | c.275A>T (p.Asn92Ile)
| |
| 8 | g.76983904T>C | CA371557706 | PEX2 | c.275A>G (p.Asn92Ser)
| |
| 8 | g.76983904T>G | CA371557707 | PEX2 | c.275A>C (p.Asn92Thr)
| ClinVar dbSNP |
| 8 | g.76983905T>A | CA371557708 | PEX2 | c.274A>T (p.Asn92Tyr)
| |
| 8 | g.76983905T>C | CA371557709 | PEX2 | c.274A>G (p.Asn92Asp)
| |
| 8 | g.76983905T>G | CA371557710 | PEX2 | c.274A>C (p.Asn92His)
| |
| 8 | g.76983905_76983906delinsTA | CA1795351678 | PEX2 | c.273_274delinsTA (p.Pro91=)
| |
| 8 | g.76983906del | CA179988276 | PEX2 | c.273del (p.Asn92ThrfsTer2)
| dbSNP |
| 8 | g.76983906A>C | CA461773578 | PEX2 | c.273T>G (p.Pro91=)
| |
| 8 | g.76983906A>G | CA461773572 | PEX2 | c.273T>C (p.Pro91=)
| |
| 8 | g.76983906A>T | CA461773577 | PEX2 | c.273T>A (p.Pro91=)
| |
| 8 | g.76983907G>A | CA371557711 | PEX2 | c.272C>T (p.Pro91Leu)
| gnomAD v4 |
| 8 | g.76983907G>C | CA371557712 | PEX2 | c.272C>G (p.Pro91Arg)
| |
| 8 | g.76983907G>T | CA371557713 | PEX2 | c.272C>A (p.Pro91His)
| |
| 8 | g.76983910dup | CA2697549974 | PEX2 | c.272dup (p.Asn92Ter)
| ClinVar |
| 8 | g.76983908G>A | CA371557716 | PEX2 | c.271C>T (p.Pro91Ser)
| |
| 8 | g.76983908G>C | CA371557714 | PEX2 | c.271C>G (p.Pro91Ala)
| |
| 8 | g.76983908G>T | CA371557715 | PEX2 | c.271C>A (p.Pro91Thr)
| |
| 8 | g.76983909G>A | CA461773583 | PEX2 | c.270C>T (p.Ser90=)
| |
| 8 | g.76983909G>C | CA461773586 | PEX2 | c.270C>G (p.Ser90=)
| |
| 8 | g.76983909G>T | CA461773588 | PEX2 | c.270C>A (p.Ser90=)
| |
| 8 | g.76983910G>A | CA234531 | PEX2 | c.269C>T (p.Ser90Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.76983910G>C | CA371557717 | PEX2 | c.269C>G (p.Ser90Cys)
| |
| 8 | g.76983910G= | CA1795351679 | PEX2 | c.269C= (p.Ser90=)
| |
| 8 | g.76983910G>T | CA371557718 | PEX2 | c.269C>A (p.Ser90Tyr)
| |
| 8 | g.76983911A= | CA1795351680 | PEX2 | c.268T= (p.Ser90=)
| |
| 8 | g.76983911A>C | CA371557719 | PEX2 | c.268T>G (p.Ser90Ala)
| |
| 8 | g.76983911A>G | CA371557720 | PEX2 | c.268T>C (p.Ser90Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983911A>T | CA371557721 | PEX2 | c.268T>A (p.Ser90Thr)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983915del | CA461773591 | PEX2 | c.268del (p.Ser90ProfsTer4)
| COSMIC |
| 8 | g.76983912A>C | CA371557722 | PEX2 | c.267T>G (p.Phe89Leu)
| |
| 8 | g.76983912A>G | CA461773598 | PEX2 | c.267T>C (p.Phe89=)
| |
| 8 | g.76983912A>T | CA371557723 | PEX2 | c.267T>A (p.Phe89Leu)
| |
| 8 | g.76983913A>C | CA371557724 | PEX2 | c.266T>G (p.Phe89Cys)
| |
| 8 | g.76983913A>G | CA371557725 | PEX2 | c.266T>C (p.Phe89Ser)
| |
| 8 | g.76983913A>T | CA371557726 | PEX2 | c.266T>A (p.Phe89Tyr)
| |
| 8 | g.76983914A= | CA1795351681 | PEX2 | c.265T= (p.Phe89=)
| |
| 8 | g.76983914A>C | CA371557727 | PEX2 | c.265T>G (p.Phe89Val)
| |
| 8 | g.76983914A>G | CA371557729 | PEX2 | c.265T>C (p.Phe89Leu)
| |
| 8 | g.76983914A>T | CA371557728 | PEX2 | c.265T>A (p.Phe89Ile)
| ClinVar dbSNP gnomAD v2 |
| 8 | g.76983915A= | CA1795351683 | PEX2 | c.264T= (p.Asp88=)
| |
| 8 | g.76983915A>C | CA371557730 | PEX2 | c.264T>G (p.Asp88Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983915A>G | CA461773602 | PEX2 | c.264T>C (p.Asp88=)
| |
| 8 | g.76983915A>T | CA371557731 | PEX2 | c.264T>A (p.Asp88Glu)
| |
| 8 | g.76983916T>A | CA179988277 | PEX2 | c.263A>T (p.Asp88Val)
| dbSNP |
| 8 | g.76983916T>C | CA371557733 | PEX2 | c.263A>G (p.Asp88Gly)
| ClinVar |
| 8 | g.76983916T>G | CA371557732 | PEX2 | c.263A>C (p.Asp88Ala)
| |
| 8 | g.76983916T= | CA1795351685 | PEX2 | c.263A= (p.Asp88=)
| |
| 8 | g.76983917C>A | CA371557734 | PEX2 | c.262G>T (p.Asp88Tyr)
| |
| 8 | g.76983917C>G | CA371557735 | PEX2 | c.262G>C (p.Asp88His)
| |
| 8 | g.76983917C>T | CA371557736 | PEX2 | c.262G>A (p.Asp88Asn)
| |
| 8 | g.76983918A>C | CA371557737 | PEX2 | c.261T>G (p.Asn87Lys)
| |
| 8 | g.76983918A>G | CA461773611 | PEX2 | c.261T>C (p.Asn87=)
| |
| 8 | g.76983918A>T | CA371557738 | PEX2 | c.261T>A (p.Asn87Lys)
| |
| 8 | g.76983919T>A | CA371557739 | PEX2 | c.260A>T (p.Asn87Ile)
| |
| 8 | g.76983919T>C | CA371557740 | PEX2 | c.260A>G (p.Asn87Ser)
| |
| 8 | g.76983919T>G | CA371557741 | PEX2 | c.260A>C (p.Asn87Thr)
| |
| 8 | g.76983923dup | CA2579209569 | PEX2 | c.260dup (p.Asn87LysfsTer2)
| |
| 8 | g.76983923del | CA2695201490 | PEX2 | c.260del (p.Asn87MetfsTer7)
| ClinVar |
| 8 | g.76983920T>A | CA371557742 | PEX2 | c.259A>T (p.Asn87Tyr)
| |
| 8 | g.76983920T>C | CA371557743 | PEX2 | c.259A>G (p.Asn87Asp)
| |
| 8 | g.76983920T>G | CA371557744 | PEX2 | c.259A>C (p.Asn87His)
| |
| 8 | g.76983921T>A | CA371557745 | PEX2 | c.258A>T (p.Lys86Asn)
| |
| 8 | g.76983921T>C | CA461773618 | PEX2 | c.258A>G (p.Lys86=)
| |
| 8 | g.76983921T>G | CA371557746 | PEX2 | c.258A>C (p.Lys86Asn)
| |
| 8 | g.76983922T>A | CA371557748 | PEX2 | c.257A>T (p.Lys86Ile)
| |
| 8 | g.76983922T>C | CA371557747 | PEX2 | c.257A>G (p.Lys86Arg)
| dbSNP gnomAD v4 |
| 8 | g.76983922T>G | CA4788743 | PEX2 | c.257A>C (p.Lys86Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983922T= | CA1795351686 | PEX2 | c.257A= (p.Lys86=)
| |
| 8 | g.76983923T>A | CA371557749 | PEX2 | c.256A>T (p.Lys86Ter)
| |
| 8 | g.76983923T>C | CA371557750 | PEX2 | c.256A>G (p.Lys86Glu)
| dbSNP |
| 8 | g.76983923T>G | CA371557751 | PEX2 | c.256A>C (p.Lys86Gln)
| |
| 8 | g.76983923T= | CA1795351687 | PEX2 | c.256A= (p.Lys86=)
| |
| 8 | g.76983924G>A | CA461773622 | PEX2 | c.255C>T (p.Tyr85=)
| |
| 8 | g.76983924G>C | CA371557752 | PEX2 | c.255C>G (p.Tyr85Ter)
| |
| 8 | g.76983924G>T | CA371557753 | PEX2 | c.255C>A (p.Tyr85Ter)
| |
| 8 | g.76983925T>A | CA371557754 | PEX2 | c.254A>T (p.Tyr85Phe)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983925T>C | CA371557755 | PEX2 | c.254A>G (p.Tyr85Cys)
| dbSNP |
| 8 | g.76983925T>G | CA371557756 | PEX2 | c.254A>C (p.Tyr85Ser)
| |
| 8 | g.76983925T= | CA1795351688 | PEX2 | c.254A= (p.Tyr85=)
| |
| 8 | g.76983926A= | CA1795351689 | PEX2 | c.253T= (p.Tyr85=)
| |
| 8 | g.76983926A>C | CA371557757 | PEX2 | c.253T>G (p.Tyr85Asp)
| |
| 8 | g.76983926A>G | CA371557758 | PEX2 | c.253T>C (p.Tyr85His)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983926A>T | CA371557759 | PEX2 | c.253T>A (p.Tyr85Asn)
| |
| 8 | g.76983926dup | CA2695201491 | PEX2 | c.253dup (p.Tyr85LeufsTer4)
| ClinVar |
| 8 | g.76983927C>A | CA371557760 | PEX2 | c.252G>T (p.Lys84Asn)
| |
| 8 | g.76983927C= | CA1795351690 | PEX2 | c.252G= (p.Lys84=)
| |
| 8 | g.76983927C>G | CA371557761 | PEX2 | c.252G>C (p.Lys84Asn)
| |
| 8 | g.76983927C>T | CA461773627 | PEX2 | c.252G>A (p.Lys84=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983928T>A | CA371557763 | PEX2 | c.251A>T (p.Lys84Met)
| |
| 8 | g.76983928T>C | CA371557764 | PEX2 | c.251A>G (p.Lys84Arg)
| |
| 8 | g.76983928T>G | CA371557762 | PEX2 | c.251A>C (p.Lys84Thr)
| |
| 8 | g.76983929T>A | CA371557765 | PEX2 | c.250A>T (p.Lys84Ter)
| |
| 8 | g.76983929T>C | CA371557766 | PEX2 | c.250A>G (p.Lys84Glu)
| |
| 8 | g.76983929T>G | CA371557767 | PEX2 | c.250A>C (p.Lys84Gln)
| |
| 8 | g.76983930A>C | CA371557768 | PEX2 | c.249T>G (p.Ile83Met)
| |
| 8 | g.76983930A>G | CA461773632 | PEX2 | c.249T>C (p.Ile83=)
| |
| 8 | g.76983930A>T | CA461773634 | PEX2 | c.249T>A (p.Ile83=)
| |
| 8 | g.76983931A= | CA1795351691 | PEX2 | c.248T= (p.Ile83=)
| |
| 8 | g.76983931A>C | CA371557769 | PEX2 | c.248T>G (p.Ile83Ser)
| |
| 8 | g.76983931A>G | CA371557770 | PEX2 | c.248T>C (p.Ile83Thr)
| ClinVar dbSNP |
| 8 | g.76983931A>T | CA371557771 | PEX2 | c.248T>A (p.Ile83Asn)
| |
| 8 | g.76983932T>A | CA371557772 | PEX2 | c.247A>T (p.Ile83Phe)
| |
| 8 | g.76983932T>C | CA371557773 | PEX2 | c.247A>G (p.Ile83Val)
| ClinVar |
| 8 | g.76983932T>G | CA371557774 | PEX2 | c.247A>C (p.Ile83Leu)
| |
| 8 | g.76983933A>C | CA371557775 | PEX2 | c.246T>G (p.Asn82Lys)
| |
| 8 | g.76983933A>G | CA461773636 | PEX2 | c.246T>C (p.Asn82=)
| |
| 8 | g.76983933A>T | CA371557776 | PEX2 | c.246T>A (p.Asn82Lys)
| |
| 8 | g.76983934T>A | CA371557778 | PEX2 | c.245A>T (p.Asn82Ile)
| |
| 8 | g.76983934T>C | CA371557777 | PEX2 | c.245A>G (p.Asn82Ser)
| gnomAD v4 |
| 8 | g.76983934T>G | CA4788744 | PEX2 | c.245A>C (p.Asn82Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983934T= | CA1795351692 | PEX2 | c.245A= (p.Asn82=)
| |
| 8 | g.76983935T>A | CA371557779 | PEX2 | c.244A>T (p.Asn82Tyr)
| |
| 8 | g.76983935T>C | CA371557780 | PEX2 | c.244A>G (p.Asn82Asp)
| |
| 8 | g.76983935T>G | CA4788745 | PEX2 | c.244A>C (p.Asn82His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983935T= | CA1795351693 | PEX2 | c.244A= (p.Asn82=)
| |
| 8 | g.76983936C>A | CA371557781 | PEX2 | c.243G>T (p.Leu81Phe)
| gnomAD v4 |
| 8 | g.76983936C>G | CA371557782 | PEX2 | c.243G>C (p.Leu81Phe)
| |
| 8 | g.76983936C>T | CA461773643 | PEX2 | c.243G>A (p.Leu81=)
| |
| 8 | g.76983937A= | CA1795351694 | PEX2 | c.242T= (p.Leu81=)
| |
| 8 | g.76983937A>C | CA371557783 | PEX2 | c.242T>G (p.Leu81Trp)
| |
| 8 | g.76983937A>G | CA371557784 | PEX2 | c.242T>C (p.Leu81Ser)
| |
| 8 | g.76983937A>T | CA371557785 | PEX2 | c.242T>A (p.Leu81Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983938A>C | CA371557786 | PEX2 | c.241T>G (p.Leu81Val)
| |
| 8 | g.76983938A>G | CA461773647 | PEX2 | c.241T>C (p.Leu81=)
| |
| 8 | g.76983938A>T | CA371557787 | PEX2 | c.241T>A (p.Leu81Met)
| |
| 8 | g.76983939A>C | CA461773649 | PEX2 | c.240T>G (p.Val80=)
| |
| 8 | g.76983939A>G | CA461773650 | PEX2 | c.240T>C (p.Val80=)
| |
| 8 | g.76983939A>T | CA461773651 | PEX2 | c.240T>A (p.Val80=)
| |
| 8 | g.76983939_76983943delinsAACTG | CA1795351695 | PEX2 | c.236_240delinsCAGTT (p.Ser79=)
| |
| 8 | g.76983940A>C | CA371557789 | PEX2 | c.239T>G (p.Val80Gly)
| |
| 8 | g.76983940A>G | CA371557788 | PEX2 | c.239T>C (p.Val80Ala)
| |
| 8 | g.76983940A>T | CA371557790 | PEX2 | c.239T>A (p.Val80Asp)
| |
| 8 | g.76983944_76983947del | CA4788746 | PEX2 | c.236_239del (p.Ser79PhefsTer2)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983941C>A | CA371557792 | PEX2 | c.238G>T (p.Val80Phe)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983941C= | CA1795351696 | PEX2 | c.238G= (p.Val80=)
| |
| 8 | g.76983941C>G | CA371557791 | PEX2 | c.238G>C (p.Val80Leu)
| |
| 8 | g.76983941C>T | CA4788747 | PEX2 | c.238G>A (p.Val80Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983942T>A | CA461773654 | PEX2 | c.237A>T (p.Ser79=)
| |
| 8 | g.76983942T>C | CA4788748 | PEX2 | c.237A>G (p.Ser79=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983942T>G | CA461773653 | PEX2 | c.237A>C (p.Ser79=)
| |
| 8 | g.76983942T= | CA1795351697 | PEX2 | c.237A= (p.Ser79=)
| |
| 8 | g.76983943G>A | CA371557793 | PEX2 | c.236C>T (p.Ser79Leu)
| |
| 8 | g.76983943G>C | CA371557794 | PEX2 | c.236C>G (p.Ser79Ter)
| |
| 8 | g.76983943G>T | CA371557795 | PEX2 | c.236C>A (p.Ser79Ter)
| |
| 8 | g.76983944A>C | CA371557798 | PEX2 | c.235T>G (p.Ser79Ala)
| |
| 8 | g.76983944A>G | CA371557796 | PEX2 | c.235T>C (p.Ser79Pro)
| |
| 8 | g.76983944A>T | CA371557797 | PEX2 | c.235T>A (p.Ser79Thr)
| |
