Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.76983536del | CA2687718860 | PEX2 | c.644del (p.Lys215SerfsTer2) | gnomAD v4 |
8 | g.76983536T>A | CA371556894 | PEX2 | c.643A>T (p.Lys215Ter) | |
8 | g.76983536T>C | CA371556893 | PEX2 | c.643A>G (p.Lys215Glu) | gnomAD v4 |
8 | g.76983536T>G | CA371556892 | PEX2 | c.643A>C (p.Lys215Gln) | |
8 | g.76983536_76983537delinsTC | CA1795351117 | PEX2 | c.642_643delinsGA (p.Gln214=) | |
8 | g.76983537del | CA179988258 | PEX2 | c.642del (p.Lys215SerfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.76983537C>A | CA371556895 | PEX2 | c.642G>T (p.Gln214His) | |
8 | g.76983537C= | CA1795351123 | PEX2 | c.642G= (p.Gln214=) | |
8 | g.76983537C>G | CA371556896 | PEX2 | c.642G>C (p.Gln214His) | dbSNP |
8 | g.76983537C>T | CA461773297 | PEX2 | c.642G>A (p.Gln214=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.76983538T>A | CA371556897 | PEX2 | c.641A>T (p.Gln214Leu) | COSMIC |
8 | g.76983538T>C | CA371556898 | PEX2 | c.641A>G (p.Gln214Arg) | gnomAD v4 |
8 | g.76983538T>G | CA371556899 | PEX2 | c.641A>C (p.Gln214Pro) | |
8 | g.76983539G>A | CA371556900 | PEX2 | c.640C>T (p.Gln214Ter) | COSMIC |
8 | g.76983539G>C | CA371556901 | PEX2 | c.640C>G (p.Gln214Glu) | |
8 | g.76983539G>T | CA371556902 | PEX2 | c.640C>A (p.Gln214Lys) | |
8 | g.76983540G>A | CA461773300 | PEX2 | c.639C>T (p.Val213=) | ClinVar dbSNP |
8 | g.76983540G>C | CA461773301 | PEX2 | c.639C>G (p.Val213=) | dbSNP |
8 | g.76983540G= | CA1795351129 | PEX2 | c.639C= (p.Val213=) | |
8 | g.76983540G>T | CA461773302 | PEX2 | c.639C>A (p.Val213=) | |
8 | g.76983541A>C | CA371556903 | PEX2 | c.638T>G (p.Val213Gly) | |
8 | g.76983541A>G | CA371556904 | PEX2 | c.638T>C (p.Val213Ala) | |
8 | g.76983541A>T | CA371556905 | PEX2 | c.638T>A (p.Val213Asp) | |
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 |