Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.76983542C>A | CA371556907 | PEX2 | c.637G>T (p.Val213Phe) | |
8 | g.76983542C>G | CA371556908 | PEX2 | c.637G>C (p.Val213Leu) | |
8 | g.76983542C>T | CA371556906 | PEX2 | c.637G>A (p.Val213Ile) | |
8 | g.76983543A= | CA1795351131 | PEX2 | c.636T= (p.Asn212=) | |
8 | g.76983543A>C | CA371556909 | PEX2 | c.636T>G (p.Asn212Lys) | |
8 | g.76983543A>G | CA4788674 | PEX2 | c.636T>C (p.Asn212=) | dbSNP ExAC gnomAD v2 |
8 | g.76983543A>T | CA371556910 | PEX2 | c.636T>A (p.Asn212Lys) | |
8 | g.76983545_76983548del | CA2687718861 | PEX2 | c.633_636del (p.Ile211MetfsTer5) | gnomAD v4 |
8 | g.76983544T>A | CA371556911 | PEX2 | c.635A>T (p.Asn212Ile) | |
8 | g.76983544T>C | CA4788675 | PEX2 | c.635A>G (p.Asn212Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.76983544T>G | CA371556912 | PEX2 | c.635A>C (p.Asn212Thr) | |
8 | g.76983544T= | CA1795351136 | PEX2 | c.635A= (p.Asn212=) | |
8 | g.76983545T>A | CA371556913 | PEX2 | c.634A>T (p.Asn212Tyr) | |
8 | g.76983545T>C | CA371556915 | PEX2 | c.634A>G (p.Asn212Asp) | |
8 | g.76983545T>G | CA371556914 | PEX2 | c.634A>C (p.Asn212His) | |
8 | g.76983546G>A | CA461773307 | PEX2 | c.633C>T (p.Ile211=) | COSMIC |
8 | g.76983546G>C | CA371556916 | PEX2 | c.633C>G (p.Ile211Met) | |
8 | g.76983546G>T | CA461773306 | PEX2 | c.633C>A (p.Ile211=) | |
8 | g.76983547A= | CA1795351139 | PEX2 | c.632T= (p.Ile211=) | |
8 | g.76983547A>C | CA371556917 | PEX2 | c.632T>G (p.Ile211Ser) | |
8 | g.76983547A>G | CA4788676 | PEX2 | c.632T>C (p.Ile211Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983547A>T | CA371556918 | PEX2 | c.632T>A (p.Ile211Asn) | |
8 | g.76983548T>A | CA371556920 | PEX2 | c.631A>T (p.Ile211Phe) | |
8 | g.76983548T>C | CA371556919 | PEX2 | c.631A>G (p.Ile211Val) | COSMIC |
8 | g.76983548T>G | CA179988259 | PEX2 | c.631A>C (p.Ile211Leu) | ClinVar dbSNP gnomAD v4 |
8 | g.76983548T= | CA1795351142 | PEX2 | c.631A= (p.Ile211=) | |
8 | g.76983548dup | CA2687718862 | PEX2 | c.631dup (p.Ile211AsnfsTer22) | gnomAD v4 |
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=) | 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 |