Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.76983438A>C | CA371556684 | PEX2 | c.741T>G (p.Cys247Trp) | |
8 | g.76983438A>G | CA461773186 | PEX2 | c.741T>C (p.Cys247=) | |
8 | g.76983438A>T | CA371556685 | PEX2 | c.741T>A (p.Cys247Ter) | |
8 | g.76983439C>A | CA371556686 | PEX2 | c.740G>T (p.Cys247Phe) | COSMIC |
8 | g.76983439C= | CA1795350943 | PEX2 | c.740G= (p.Cys247=) | |
8 | g.76983439C>G | CA371556687 | PEX2 | c.740G>C (p.Cys247Ser) | |
8 | g.76983439C>T | CA10588463 | PEX2 | c.740G>A (p.Cys247Tyr) | ClinVar dbSNP |
8 | g.76983439_76983441delinsCAT | CA1795350946 | PEX2 | c.738_740delinsATG (p.Leu246=) | |
8 | g.76983440A= | CA1795350950 | PEX2 | c.739T= (p.Cys247=) | |
8 | g.76983440A>C | CA371556689 | PEX2 | c.739T>G (p.Cys247Gly) | |
8 | g.76983440A>G | CA163284 | PEX2 | c.739T>C (p.Cys247Arg) | ClinVar dbSNP |
8 | g.76983440A>T | CA371556688 | PEX2 | c.739T>A (p.Cys247Ser) | |
8 | g.76983441_76983442del | CA583367326 | PEX2 | c.738_739del (p.Cys247TrpfsTer13) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983441T>A | CA461773187 | PEX2 | c.738A>T (p.Leu246=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.76983441T>C | CA4788660 | PEX2 | c.738A>G (p.Leu246=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983441T>G | CA461773188 | PEX2 | c.738A>C (p.Leu246=) | dbSNP gnomAD v4 |
8 | g.76983441T= | CA1795350955 | PEX2 | c.738A= (p.Leu246=) | |
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) |