Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.76983548_76983553dup | CA2687718863 | PEX2 | c.626_631dup (p.Leu210_Ile211insThrLeu) | gnomAD v4 |
8 | g.76983549A= | CA1795351146 | PEX2 | c.630T= (p.Leu210=) | |
8 | g.76983549A>C | CA461773309 | PEX2 | c.630T>G (p.Leu210=) | |
8 | g.76983549A>G | CA4788677 | PEX2 | c.630T>C (p.Leu210=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983549A>T | CA461773310 | PEX2 | c.630T>A (p.Leu210=) | |
8 | g.76983550A>C | CA371556922 | PEX2 | c.629T>G (p.Leu210Arg) | |
8 | g.76983550A>G | CA371556921 | PEX2 | c.629T>C (p.Leu210Pro) | |
8 | g.76983550A>T | CA371556923 | PEX2 | c.629T>A (p.Leu210His) | |
8 | g.76983551G>A | CA371556924 | PEX2 | c.628C>T (p.Leu210Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.76983551G>C | CA371556925 | PEX2 | c.628C>G (p.Leu210Val) | |
8 | g.76983551G= | CA1795351150 | PEX2 | c.628C= (p.Leu210=) | |
8 | g.76983551G>T | CA371556926 | PEX2 | c.628C>A (p.Leu210Ile) | |
8 | g.76983552T>A | CA461773311 | PEX2 | c.627A>T (p.Pro209=) | |
8 | g.76983552T>C | CA461773312 | PEX2 | c.627A>G (p.Pro209=) | ClinVar dbSNP |
8 | g.76983552T>G | CA461773313 | PEX2 | c.627A>C (p.Pro209=) | |
8 | g.76983552T= | CA1795351155 | PEX2 | c.627A= (p.Pro209=) | |
8 | g.76983553G>A | CA371556927 | PEX2 | c.626C>T (p.Pro209Leu) | gnomAD v4 |
8 | g.76983553G>C | CA371556928 | PEX2 | c.626C>G (p.Pro209Arg) | |
8 | g.76983553G>T | CA371556929 | PEX2 | c.626C>A (p.Pro209Gln) | |
8 | g.76983554G>A | CA371556930 | PEX2 | c.625C>T (p.Pro209Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.76983554G>C | CA371556931 | PEX2 | c.625C>G (p.Pro209Ala) | gnomAD v4 |
8 | g.76983554G= | CA1795351158 | PEX2 | c.625C= (p.Pro209=) | |
8 | g.76983554G>T | CA371556932 | PEX2 | c.625C>A (p.Pro209Thr) | gnomAD v4 |
8 | g.76983555T>A | CA371556933 | PEX2 | c.624A>T (p.Leu208Phe) | |
8 | g.76983555T>C | CA461773315 | PEX2 | c.624A>G (p.Leu208=) | dbSNP gnomAD v4 |
8 | g.76983555T>G | CA371556934 | PEX2 | c.624A>C (p.Leu208Phe) | |
8 | g.76983555T= | CA1795351171 | PEX2 | c.624A= (p.Leu208=) | |
8 | g.76983555dup | CA583367320 | PEX2 | c.624dup (p.Pro209ThrfsTer24) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983556A>C | CA371556935 | PEX2 | c.623T>G (p.Leu208Ter) | |
8 | g.76983556A>G | CA371556936 | PEX2 | c.623T>C (p.Leu208Ser) | gnomAD v4 |
8 | g.76983556A>T | CA371556937 | PEX2 | c.623T>A (p.Leu208Ter) | |
8 | g.76983557dup | CA1795351175 | PEX2 | c.623dup (p.Leu208PhefsTer25) | dbSNP |
8 | g.76983557A>C | CA371556938 | PEX2 | c.622T>G (p.Leu208Val) | |
8 | g.76983557A>G | CA461773316 | PEX2 | c.622T>C (p.Leu208=) | |
8 | g.76983557A>T | CA371556939 | PEX2 | c.622T>A (p.Leu208Ile) | |
8 | g.76983558G>A | CA461773317 | PEX2 | c.621C>T (p.Leu207=) | ClinVar COSMIC |
8 | g.76983558G>C | CA461773318 | PEX2 | c.621C>G (p.Leu207=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983558G= | CA1795351178 | PEX2 | c.621C= (p.Leu207=) | |
8 | g.76983558G>T | CA461773319 | PEX2 | c.621C>A (p.Leu207=) | |
8 | g.76983559A= | CA1795351182 | PEX2 | c.620T= (p.Leu207=) | |
8 | g.76983559A>C | CA371556940 | PEX2 | c.620T>G (p.Leu207Arg) | |
8 | g.76983559A>G | CA179988260 | PEX2 | c.620T>C (p.Leu207Pro) | dbSNP |
8 | g.76983559A>T | CA371556941 | PEX2 | c.620T>A (p.Leu207His) | |
8 | g.76983560G>A | CA4788678 | PEX2 | c.619C>T (p.Leu207Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983560G>C | CA371556942 | PEX2 | c.619C>G (p.Leu207Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983560G= | CA1795351188 | PEX2 | c.619C= (p.Leu207=) | |
8 | g.76983560G>T | CA371556943 | PEX2 | c.619C>A (p.Leu207Ile) | |
8 | g.76983561A>C | CA371556944 | PEX2 | c.618T>G (p.Phe206Leu) | |
8 | g.76983561A>G | CA461773320 | PEX2 | c.618T>C (p.Phe206=) | |
8 | g.76983561A>T | CA371556945 | PEX2 | c.618T>A (p.Phe206Leu) |