| 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)
| |
| 8 | g.76983945C>A | CA371557799 | PEX2 | c.234G>T (p.Gln78His)
| |
| 8 | g.76983945C= | CA1795351698 | PEX2 | c.234G= (p.Gln78=)
| |
| 8 | g.76983945C>G | CA371557800 | PEX2 | c.234G>C (p.Gln78His)
| |
| 8 | g.76983945C>T | CA461773661 | PEX2 | c.234G>A (p.Gln78=)
| ClinVar dbSNP |
| 8 | g.76983946T>A | CA371557801 | PEX2 | c.233A>T (p.Gln78Leu)
| |
| 8 | g.76983946T>C | CA371557802 | PEX2 | c.233A>G (p.Gln78Arg)
| |
| 8 | g.76983946T>G | CA371557803 | PEX2 | c.233A>C (p.Gln78Pro)
| |
| 8 | g.76983946dup | CA583367342 | PEX2 | c.233dup (p.Ser79ValfsTer6)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983947G>A | CA371557804 | PEX2 | c.232C>T (p.Gln78Ter)
| ClinVar dbSNP COSMIC |
| 8 | g.76983947G>C | CA371557806 | PEX2 | c.232C>G (p.Gln78Glu)
| |
| 8 | g.76983947G= | CA1795351699 | PEX2 | c.232C= (p.Gln78=)
| |
| 8 | g.76983947G>T | CA371557805 | PEX2 | c.232C>A (p.Gln78Lys)
| |
| 8 | g.76983948T>A | CA461773664 | PEX2 | c.231A>T (p.Gly77=)
| |
| 8 | g.76983948T>C | CA4788749 | PEX2 | c.231A>G (p.Gly77=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983948T>G | CA461773665 | PEX2 | c.231A>C (p.Gly77=)
| gnomAD v4 |
| 8 | g.76983948T= | CA1795351702 | PEX2 | c.231A= (p.Gly77=)
| |
| 8 | g.76983949C>A | CA371557807 | PEX2 | c.230G>T (p.Gly77Val)
| |
| 8 | g.76983949C>G | CA371557808 | PEX2 | c.230G>C (p.Gly77Ala)
| |
| 8 | g.76983949C>T | CA371557809 | PEX2 | c.230G>A (p.Gly77Glu)
| |
| 8 | g.76983950C>A | CA371557810 | PEX2 | c.229G>T (p.Gly77Ter)
| |
| 8 | g.76983950C>G | CA371557811 | PEX2 | c.229G>C (p.Gly77Arg)
| |
| 8 | g.76983950C>T | CA371557812 | PEX2 | c.229G>A (p.Gly77Arg)
| |
| 8 | g.76983951C>A | CA461773667 | PEX2 | c.228G>T (p.Val76=)
| |
| 8 | g.76983951C>G | CA461773668 | PEX2 | c.228G>C (p.Val76=)
| |
| 8 | g.76983951C>T | CA461773669 | PEX2 | c.228G>A (p.Val76=)
| gnomAD v4 |
| 8 | g.76983952A>C | CA371557813 | PEX2 | c.227T>G (p.Val76Gly)
| |
| 8 | g.76983952A>G | CA371557814 | PEX2 | c.227T>C (p.Val76Ala)
| |
| 8 | g.76983952A>T | CA371557815 | PEX2 | c.227T>A (p.Val76Glu)
| |
| 8 | g.76983953C>A | CA371557818 | PEX2 | c.226G>T (p.Val76Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983953C= | CA1795351705 | PEX2 | c.226G= (p.Val76=)
| |
| 8 | g.76983953C>G | CA371557817 | PEX2 | c.226G>C (p.Val76Leu)
| |
| 8 | g.76983953C>T | CA371557816 | PEX2 | c.226G>A (p.Val76Met)
| |
| 8 | g.76983954T>A | CA461773672 | PEX2 | c.225A>T (p.Thr75=)
| |
| 8 | g.76983954T>C | CA461773673 | PEX2 | c.225A>G (p.Thr75=)
| |
| 8 | g.76983954T>G | CA461773674 | PEX2 | c.225A>C (p.Thr75=)
| |
| 8 | g.76983955G>A | CA371557819 | PEX2 | c.224C>T (p.Thr75Ile)
| |
| 8 | g.76983955G>C | CA371557820 | PEX2 | c.224C>G (p.Thr75Arg)
| gnomAD v4 |
| 8 | g.76983955G= | CA1795351708 | PEX2 | c.224C= (p.Thr75=)
| |
| 8 | g.76983955G>T | CA4788750 | PEX2 | c.224C>A (p.Thr75Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983956T>A | CA371557821 | PEX2 | c.223A>T (p.Thr75Ser)
| |
| 8 | g.76983956T>C | CA371557822 | PEX2 | c.223A>G (p.Thr75Ala)
| |
| 8 | g.76983956T>G | CA4788751 | PEX2 | c.223A>C (p.Thr75Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983956T= | CA1795351712 | PEX2 | c.223A= (p.Thr75=)
| |
| 8 | g.76983956dup | CA2717707969 | PEX2 | c.223dup (p.Thr75AsnfsTer10)
| dbSNP |
| 8 | g.76983957G>A | CA179988278 | PEX2 | c.222C>T (p.Ala74=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983957G>C | CA461773677 | PEX2 | c.222C>G (p.Ala74=)
| |
| 8 | g.76983957G= | CA1795351714 | PEX2 | c.222C= (p.Ala74=)
| |
| 8 | g.76983957G>T | CA461773676 | PEX2 | c.222C>A (p.Ala74=)
| |
| 8 | g.76983958G>A | CA371557823 | PEX2 | c.221C>T (p.Ala74Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983958G>C | CA371557824 | PEX2 | c.221C>G (p.Ala74Gly)
| ClinVar dbSNP |
| 8 | g.76983958G= | CA1795351717 | PEX2 | c.221C= (p.Ala74=)
| |
| 8 | g.76983958G>T | CA371557825 | PEX2 | c.221C>A (p.Ala74Asp)
| |
| 8 | g.76983959C>A | CA371557826 | PEX2 | c.220G>T (p.Ala74Ser)
| |
| 8 | g.76983959C>G | CA371557827 | PEX2 | c.220G>C (p.Ala74Pro)
| |
| 8 | g.76983959C>T | CA371557828 | PEX2 | c.220G>A (p.Ala74Thr)
| |
| 8 | g.76983959dup | CA4788752 | PEX2 | c.220dup (p.Ala74GlyfsTer11)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983960A= | CA1795351721 | PEX2 | c.219T= (p.Asn73=)
| |
| 8 | g.76983960A>C | CA371557829 | PEX2 | c.219T>G (p.Asn73Lys)
| |
| 8 | g.76983960A>G | CA461773681 | PEX2 | c.219T>C (p.Asn73=)
| dbSNP |
| 8 | g.76983960A>T | CA371557830 | PEX2 | c.219T>A (p.Asn73Lys)
| |
| 8 | g.76983960_76983961delinsAT | CA1795351722 | PEX2 | c.218_219delinsAT (p.Asn73=)
| |
| 8 | g.76983961T>A | CA371557831 | PEX2 | c.218A>T (p.Asn73Ile)
| |
| 8 | g.76983961T>C | CA371557832 | PEX2 | c.218A>G (p.Asn73Ser)
| |
| 8 | g.76983961T>G | CA371557833 | PEX2 | c.218A>C (p.Asn73Thr)
| |
| 8 | g.76983965del | CA915945750 | PEX2 | c.218del (p.Asn73MetfsTer9)
| ClinVar dbSNP |
| 8 | g.76983962T>A | CA371557834 | PEX2 | c.217A>T (p.Asn73Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983962T>C | CA371557835 | PEX2 | c.217A>G (p.Asn73Asp)
| |
| 8 | g.76983962T>G | CA371557836 | PEX2 | c.217A>C (p.Asn73His)
| |
| 8 | g.76983962T= | CA1795351724 | PEX2 | c.217A= (p.Asn73=)
| |
| 8 | g.76983963T>A | CA371557837 | PEX2 | c.216A>T (p.Lys72Asn)
| |
| 8 | g.76983963T>C | CA461773686 | PEX2 | c.216A>G (p.Lys72=)
| |
| 8 | g.76983963T>G | CA371557838 | PEX2 | c.216A>C (p.Lys72Asn)
| |
| 8 | g.76983964T>A | CA371557839 | PEX2 | c.215A>T (p.Lys72Ile)
| |
| 8 | g.76983964T>C | CA371557840 | PEX2 | c.215A>G (p.Lys72Arg)
| gnomAD v4 |
| 8 | g.76983964T>G | CA371557841 | PEX2 | c.215A>C (p.Lys72Thr)
| |
| 8 | g.76983965T>A | CA371557844 | PEX2 | c.214A>T (p.Lys72Ter)
| |
| 8 | g.76983965T>C | CA371557843 | PEX2 | c.214A>G (p.Lys72Glu)
| |
| 8 | g.76983965T>G | CA371557842 | PEX2 | c.214A>C (p.Lys72Gln)
| |
| 8 | g.76983966G>A | CA461773687 | PEX2 | c.213C>T (p.Ser71=)
| |
| 8 | g.76983966G>C | CA461773688 | PEX2 | c.213C>G (p.Ser71=)
| |
| 8 | g.76983966G>T | CA461773689 | PEX2 | c.213C>A (p.Ser71=)
| |
| 8 | g.76983967G>A | CA371557845 | PEX2 | c.212C>T (p.Ser71Phe)
| |
| 8 | g.76983967G>C | CA371557847 | PEX2 | c.212C>G (p.Ser71Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983967G= | CA1795351725 | PEX2 | c.212C= (p.Ser71=)
| |
| 8 | g.76983967G>T | CA371557846 | PEX2 | c.212C>A (p.Ser71Tyr)
| |
| 8 | g.76983968A>C | CA371557848 | PEX2 | c.211T>G (p.Ser71Ala)
| gnomAD v4 |
| 8 | g.76983968A>G | CA371557849 | PEX2 | c.211T>C (p.Ser71Pro)
| |
| 8 | g.76983968A>T | CA371557850 | PEX2 | c.211T>A (p.Ser71Thr)
| |
| 8 | g.76983969G>A | CA461773693 | PEX2 | c.210C>T (p.Tyr70=)
| gnomAD v4 |
| 8 | g.76983969G>C | CA371557851 | PEX2 | c.210C>G (p.Tyr70Ter)
| |
| 8 | g.76983969G>T | CA371557852 | PEX2 | c.210C>A (p.Tyr70Ter)
| |
| 8 | g.76983970T>A | CA371557853 | PEX2 | c.209A>T (p.Tyr70Phe)
| |
| 8 | g.76983970T>C | CA4788753 | PEX2 | c.209A>G (p.Tyr70Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983970T>G | CA371557854 | PEX2 | c.209A>C (p.Tyr70Ser)
| |
| 8 | g.76983970T= | CA1795351727 | PEX2 | c.209A= (p.Tyr70=)
| |
| 8 | g.76983971A= | CA1795351730 | PEX2 | c.208T= (p.Tyr70=)
| |
| 8 | g.76983971A>C | CA371557855 | PEX2 | c.208T>G (p.Tyr70Asp)
| |
| 8 | g.76983971A>G | CA371557856 | PEX2 | c.208T>C (p.Tyr70His)
| dbSNP |
| 8 | g.76983971A>T | CA371557857 | PEX2 | c.208T>A (p.Tyr70Asn)
| |
| 8 | g.76983972G>A | CA461773696 | PEX2 | c.207C>T (p.Ile69=)
| gnomAD v4 |
| 8 | g.76983972G>C | CA371557858 | PEX2 | c.207C>G (p.Ile69Met)
| gnomAD v4 |
| 8 | g.76983972G= | CA1795351732 | PEX2 | c.207C= (p.Ile69=)
| |
| 8 | g.76983972G>T | CA461773697 | PEX2 | c.207C>A (p.Ile69=)
| ClinVar dbSNP |
| 8 | g.76983973A= | CA1795351733 | PEX2 | c.206T= (p.Ile69=)
| |
| 8 | g.76983973A>C | CA371557861 | PEX2 | c.206T>G (p.Ile69Ser)
| |
| 8 | g.76983973A>G | CA371557859 | PEX2 | c.206T>C (p.Ile69Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983973A>T | CA371557860 | PEX2 | c.206T>A (p.Ile69Asn)
| |
| 8 | g.76983974del | CA2687718968 | PEX2 | c.205del (p.Ile69SerfsTer13)
| gnomAD v4 |
| 8 | g.76983974T>A | CA371557862 | PEX2 | c.205A>T (p.Ile69Phe)
| |
| 8 | g.76983974T>C | CA4788754 | PEX2 | c.205A>G (p.Ile69Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.76983974T>G | CA371557863 | PEX2 | c.205A>C (p.Ile69Leu)
| |
| 8 | g.76983974T= | CA1795351736 | PEX2 | c.205A= (p.Ile69=)
| |
| 8 | g.76983975G>A | CA461773699 | PEX2 | c.204C>T (p.Thr68=)
| |
| 8 | g.76983975G>C | CA461773700 | PEX2 | c.204C>G (p.Thr68=)
| |
| 8 | g.76983975G>T | CA461773701 | PEX2 | c.204C>A (p.Thr68=)
| |
| 8 | g.76983976G>A | CA371557864 | PEX2 | c.203C>T (p.Thr68Ile)
| |
| 8 | g.76983976G>C | CA371557865 | PEX2 | c.203C>G (p.Thr68Ser)
| |
| 8 | g.76983976G>T | CA371557866 | PEX2 | c.203C>A (p.Thr68Asn)
| |
| 8 | g.76983977T>A | CA371557867 | PEX2 | c.202A>T (p.Thr68Ser)
| |
| 8 | g.76983977T>C | CA371557868 | PEX2 | c.202A>G (p.Thr68Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983977T>G | CA371557869 | PEX2 | c.202A>C (p.Thr68Pro)
| |
| 8 | g.76983977T= | CA1795351738 | PEX2 | c.202A= (p.Thr68=)
| |
| 8 | g.76983977_76983978insA | CA2780920861 | PEX2 | c.201_202insT (p.Thr68TyrfsTer17)
| |
| 8 | g.76983978G>A | CA461773705 | PEX2 | c.201C>T (p.Phe67=)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983978G>C | CA371557870 | PEX2 | c.201C>G (p.Phe67Leu)
| gnomAD v4 |
| 8 | g.76983978G= | CA1795351741 | PEX2 | c.201C= (p.Phe67=)
| |
| 8 | g.76983978G>T | CA371557871 | PEX2 | c.201C>A (p.Phe67Leu)
| |
| 8 | g.76983979A>C | CA371557874 | PEX2 | c.200T>G (p.Phe67Cys)
| |
| 8 | g.76983979A>G | CA371557873 | PEX2 | c.200T>C (p.Phe67Ser)
| |
| 8 | g.76983979A>T | CA371557872 | PEX2 | c.200T>A (p.Phe67Tyr)
| |
| 8 | g.76983980A>C | CA371557877 | PEX2 | c.199T>G (p.Phe67Val)
| |
| 8 | g.76983980A>G | CA371557875 | PEX2 | c.199T>C (p.Phe67Leu)
| |
| 8 | g.76983980A>T | CA371557876 | PEX2 | c.199T>A (p.Phe67Ile)
| |
| 8 | g.76983981T>A | CA371557878 | PEX2 | c.198A>T (p.Arg66Ser)
| gnomAD v4 |
| 8 | g.76983981T>C | CA461773709 | PEX2 | c.198A>G (p.Arg66=)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983981T>G | CA371557879 | PEX2 | c.198A>C (p.Arg66Ser)
| |
| 8 | g.76983983_76983984del | CA2695201492 | PEX2 | c.197_198del (p.Arg66IlefsTer18)
| ClinVar |
| 8 | g.76983982C>A | CA371557880 | PEX2 | c.197G>T (p.Arg66Ile)
| dbSNP |
| 8 | g.76983982C= | CA1795351742 | PEX2 | c.197G= (p.Arg66=)
| |
| 8 | g.76983982C>G | CA371557881 | PEX2 | c.197G>C (p.Arg66Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983982C>T | CA371557882 | PEX2 | c.197G>A (p.Arg66Lys)
| gnomAD v4 |
| 8 | g.76983983T>A | CA371557883 | PEX2 | c.196A>T (p.Arg66Ter)
| |
| 8 | g.76983983T>C | CA371557884 | PEX2 | c.196A>G (p.Arg66Gly)
| |
| 8 | g.76983983T>G | CA461773713 | PEX2 | c.196A>C (p.Arg66=)
| |
| 8 | g.76983984C>A | CA4788755 | PEX2 | c.195G>T (p.Trp65Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983984C= | CA1795351746 | PEX2 | c.195G= (p.Trp65=)
| |
| 8 | g.76983984C>G | CA371557885 | PEX2 | c.195G>C (p.Trp65Cys)
| |
| 8 | g.76983984C>T | CA371557886 | PEX2 | c.195G>A (p.Trp65Ter)
| gnomAD v4 COSMIC |
| 8 | g.76983985C>A | CA371557889 | PEX2 | c.194G>T (p.Trp65Leu)
| |
| 8 | g.76983985C>G | CA371557888 | PEX2 | c.194G>C (p.Trp65Ser)
| |
| 8 | g.76983985C>T | CA371557887 | PEX2 | c.194G>A (p.Trp65Ter)
| |
| 8 | g.76983986A= | CA1795351748 | PEX2 | c.193T= (p.Trp65=)
| |
| 8 | g.76983986A>C | CA4788756 | PEX2 | c.193T>G (p.Trp65Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983986A>G | CA371557890 | PEX2 | c.193T>C (p.Trp65Arg)
| gnomAD v4 |
| 8 | g.76983986A>T | CA371557891 | PEX2 | c.193T>A (p.Trp65Arg)
| |
| 8 | g.76983987C>A | CA371557892 | PEX2 | c.192G>T (p.Leu64Phe)
| |
| 8 | g.76983987C= | CA1795351750 | PEX2 | c.192G= (p.Leu64=)
| |
| 8 | g.76983987C>G | CA371557893 | PEX2 | c.192G>C (p.Leu64Phe)
| |
| 8 | g.76983987C>T | CA4788757 | PEX2 | c.192G>A (p.Leu64=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983988A>C | CA371557894 | PEX2 | c.191T>G (p.Leu64Trp)
| |
| 8 | g.76983988A>G | CA371557895 | PEX2 | c.191T>C (p.Leu64Ser)
| gnomAD v4 |
| 8 | g.76983988A>T | CA371557896 | PEX2 | c.191T>A (p.Leu64Ter)
| |
| 8 | g.76983989A= | CA1795351752 | PEX2 | c.190T= (p.Leu64=)
| |
| 8 | g.76983989A>C | CA371557897 | PEX2 | c.190T>G (p.Leu64Val)
| |
| 8 | g.76983989A>G | CA461773720 | PEX2 | c.190T>C (p.Leu64=)
| ClinVar |
| 8 | g.76983989A>T | CA371557898 | PEX2 | c.190T>A (p.Leu64Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983990G>A | CA461773721 | PEX2 | c.189C>T (p.Phe63=)
| |
| 8 | g.76983990G>C | CA371557899 | PEX2 | c.189C>G (p.Phe63Leu)
| |
| 8 | g.76983990G>T | CA371557900 | PEX2 | c.189C>A (p.Phe63Leu)
| |
| 8 | g.76983991A>C | CA371557902 | PEX2 | c.188T>G (p.Phe63Cys)
| |
| 8 | g.76983991A>G | CA371557903 | PEX2 | c.188T>C (p.Phe63Ser)
| |
| 8 | g.76983991A>T | CA371557901 | PEX2 | c.188T>A (p.Phe63Tyr)
| |
| 8 | g.76983994dup | CA2695201493 | PEX2 | c.188dup (p.Trp65ValfsTer20)
| ClinVar |
| 8 | g.76983992A>C | CA371557904 | PEX2 | c.187T>G (p.Phe63Val)
| |
| 8 | g.76983992A>G | CA371557906 | PEX2 | c.187T>C (p.Phe63Leu)
| |
| 8 | g.76983992A>T | CA371557905 | PEX2 | c.187T>A (p.Phe63Ile)
| |
| 8 | g.76983993A>C | CA461773723 | PEX2 | c.186T>G (p.Val62=)
| |
| 8 | g.76983993A>G | CA461773724 | PEX2 | c.186T>C (p.Val62=)
| |
| 8 | g.76983993A>T | CA461773725 | PEX2 | c.186T>A (p.Val62=)
| |
