Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.76983447_76983457del | CA2687718859 | PEX2 | c.724_734del (p.Lys242SerfsTer15) | gnomAD v4 |
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=) |