Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |