| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.76983441_76983442del | CA583367326 | PEX2 | c.738_739del (p.Cys247TrpfsTer13) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) |