UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 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) | |
| 8 | g.76983565del | CA2573053054 | PEX2 | c.618del (p.Leu207SerfsTer10) | ClinVar dbSNP |
| 8 | g.76983562A>C | CA371556946 | PEX2 | c.617T>G (p.Phe206Cys) | |
| 8 | g.76983562A>G | CA371556947 | PEX2 | c.617T>C (p.Phe206Ser) | gnomAD v4 |
| 8 | g.76983562A>T | CA371556948 | PEX2 | c.617T>A (p.Phe206Tyr) | |
| 8 | g.76983563A= | CA1795351195 | PEX2 | c.616T= (p.Phe206=) | |
| 8 | g.76983563A>C | CA371556950 | PEX2 | c.616T>G (p.Phe206Val) | |
| 8 | g.76983563A>G | CA4788679 | PEX2 | c.616T>C (p.Phe206Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983563A>T | CA371556949 | PEX2 | c.616T>A (p.Phe206Ile) | |
| 8 | g.76983564A>C | CA371556951 | PEX2 | c.615T>G (p.Ile205Met) | |
| 8 | g.76983564A>G | CA461773322 | PEX2 | c.615T>C (p.Ile205=) | |
| 8 | g.76983564A>T | CA461773321 | PEX2 | c.615T>A (p.Ile205=) | |
| 8 | g.76983565A>C | CA371556952 | PEX2 | c.614T>G (p.Ile205Ser) | ClinVar |
| 8 | g.76983565A>G | CA371556953 | PEX2 | c.614T>C (p.Ile205Thr) | |
| 8 | g.76983565A>T | CA371556954 | PEX2 | c.614T>A (p.Ile205Asn) | |
| 8 | g.76983566T>A | CA371556955 | PEX2 | c.613A>T (p.Ile205Phe) | |
| 8 | g.76983566T>C | CA371556956 | PEX2 | c.613A>G (p.Ile205Val) | |
| 8 | g.76983566T>G | CA371556957 | PEX2 | c.613A>C (p.Ile205Leu) | |
| 8 | g.76983567C>A | CA461773324 | PEX2 | c.612G>T (p.Leu204=) | |
| 8 | g.76983567C= | CA1795351200 | PEX2 | c.612G= (p.Leu204=) | |
| 8 | g.76983567C>G | CA461773326 | PEX2 | c.612G>C (p.Leu204=) | |
| 8 | g.76983567C>T | CA4788680 | PEX2 | c.612G>A (p.Leu204=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983568A>C | CA371556958 | PEX2 | c.611T>G (p.Leu204Arg) | |
| 8 | g.76983568A>G | CA371556959 | PEX2 | c.611T>C (p.Leu204Pro) | |
| 8 | g.76983568A>T | CA371556960 | PEX2 | c.611T>A (p.Leu204Gln) | |
| 8 | g.76983569_76983570del | CA2580078952 | PEX2 | c.610_611del (p.Leu204AspfsTer28) | ClinVar |
| 8 | g.76983569G>A | CA461773329 | PEX2 | c.610C>T (p.Leu204=) | |
| 8 | g.76983569G>C | CA371556961 | PEX2 | c.610C>G (p.Leu204Val) | |
| 8 | g.76983569G>T | CA371556962 | PEX2 | c.610C>A (p.Leu204Met) | |
| 8 | g.76983570A>C | CA371556964 | PEX2 | c.609T>G (p.Phe203Leu) | |
| 8 | g.76983570A>G | CA461773330 | PEX2 | c.609T>C (p.Phe203=) | |
| 8 | g.76983570A>T | CA371556963 | PEX2 | c.609T>A (p.Phe203Leu) | gnomAD v4 |
| 8 | g.76983571A>C | CA371556965 | PEX2 | c.608T>G (p.Phe203Cys) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983571A>G | CA371556966 | PEX2 | c.608T>C (p.Phe203Ser) | |
| 8 | g.76983571A>T | CA371556967 | PEX2 | c.608T>A (p.Phe203Tyr) | |
| 8 | g.76983572A= | CA1795351203 | PEX2 | c.607T= (p.Phe203=) | |
| 8 | g.76983572A>C | CA371556968 | PEX2 | c.607T>G (p.Phe203Val) | |
| 8 | g.76983572A>G | CA371556969 | PEX2 | c.607T>C (p.Phe203Leu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983572A>T | CA371556970 | PEX2 | c.607T>A (p.Phe203Ile) | |
| 8 | g.76983573T>A | CA371556971 | PEX2 | c.606A>T (p.Glu202Asp) | ClinVar dbSNP |
| 8 | g.76983573T>C | CA4788681 | PEX2 | c.606A>G (p.Glu202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983573T>G | CA371556972 | PEX2 | c.606A>C (p.Glu202Asp) | |
| 8 | g.76983573T= | CA1795351204 | PEX2 | c.606A= (p.Glu202=) | |
| 8 | g.76983574T>A | CA371556973 | PEX2 | c.605A>T (p.Glu202Val) | |
| 8 | g.76983574T>C | CA371556974 | PEX2 | c.605A>G (p.Glu202Gly) | |
| 8 | g.76983574T>G | CA371556975 | PEX2 | c.605A>C (p.Glu202Ala) | dbSNP |
| 8 | g.76983575C>A | CA371556978 | PEX2 | c.604G>T (p.Glu202Ter) | |
| 8 | g.76983575C>G | CA371556977 | PEX2 | c.604G>C (p.Glu202Gln) | ClinVar gnomAD v4 |
| 8 | g.76983575C>T | CA371556976 | PEX2 | c.604G>A (p.Glu202Lys) | COSMIC |
| 8 | g.76983576A>C | CA461773334 | PEX2 | c.603T>G (p.Ala201=) | |
| 8 | g.76983576A>G | CA461773335 | PEX2 | c.603T>C (p.Ala201=) | ClinVar |
| 8 | g.76983576A>T | CA461773336 | PEX2 | c.603T>A (p.Ala201=) | |
| 8 | g.76983577G>A | CA371556979 | PEX2 | c.602C>T (p.Ala201Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983577G>C | CA371556981 | PEX2 | c.602C>G (p.Ala201Gly) | |
| 8 | g.76983577G= | CA1795351207 | PEX2 | c.602C= (p.Ala201=) | |
| 8 | g.76983577G>T | CA371556980 | PEX2 | c.602C>A (p.Ala201Asp) | |
| 8 | g.76983578C>A | CA371556982 | PEX2 | c.601G>T (p.Ala201Ser) | |
| 8 | g.76983578C= | CA1795351210 | PEX2 | c.601G= (p.Ala201=) | |
| 8 | g.76983578C>G | CA371556983 | PEX2 | c.601G>C (p.Ala201Pro) | |
| 8 | g.76983578C>T | CA4788682 | PEX2 | c.601G>A (p.Ala201Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983579A>C | CA371556984 | PEX2 | c.600T>G (p.Phe200Leu) | |
| 8 | g.76983579A>G | CA461773339 | PEX2 | c.600T>C (p.Phe200=) | ClinVar gnomAD v4 |
| 8 | g.76983579A>T | CA371556985 | PEX2 | c.600T>A (p.Phe200Leu) | |
| 8 | g.76983580A>C | CA371556986 | PEX2 | c.599T>G (p.Phe200Cys) | |
| 8 | g.76983580A>G | CA371556987 | PEX2 | c.599T>C (p.Phe200Ser) | |
| 8 | g.76983580A>T | CA371556988 | PEX2 | c.599T>A (p.Phe200Tyr) | |
| 8 | g.76983581A>C | CA371556989 | PEX2 | c.598T>G (p.Phe200Val) | |
| 8 | g.76983581A>G | CA371556990 | PEX2 | c.598T>C (p.Phe200Leu) | |
| 8 | g.76983581A>T | CA371556991 | PEX2 | c.598T>A (p.Phe200Ile) | gnomAD v4 |
| 8 | g.76983582A= | CA1795351213 | PEX2 | c.597T= (p.Gly199=) | |
| 8 | g.76983582A>C | CA179988261 | PEX2 | c.597T>G (p.Gly199=) | dbSNP |
| 8 | g.76983582A>G | CA461773340 | PEX2 | c.597T>C (p.Gly199=) | |
| 8 | g.76983582A>T | CA461773341 | PEX2 | c.597T>A (p.Gly199=) | gnomAD v4 |
| 8 | g.76983583C>A | CA371556993 | PEX2 | c.596G>T (p.Gly199Val) | COSMIC |
| 8 | g.76983583C= | CA1795351223 | PEX2 | c.596G= (p.Gly199=) | |
| 8 | g.76983583C>G | CA4788683 | PEX2 | c.596G>C (p.Gly199Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983583C>T | CA371556992 | PEX2 | c.596G>A (p.Gly199Asp) | ClinVar gnomAD v4 |
| 8 | g.76983584C>A | CA371556994 | PEX2 | c.595G>T (p.Gly199Cys) | |
| 8 | g.76983584C>G | CA371556995 | PEX2 | c.595G>C (p.Gly199Arg) | |
| 8 | g.76983584C>T | CA371556996 | PEX2 | c.595G>A (p.Gly199Ser) | gnomAD v4 |
| 8 | g.76983585A>C | CA371556997 | PEX2 | c.594T>G (p.His198Gln) | |
| 8 | g.76983585A>G | CA461773345 | PEX2 | c.594T>C (p.His198=) | ClinVar |
| 8 | g.76983585A>T | CA371556998 | PEX2 | c.594T>A (p.His198Gln) | |
| 8 | g.76983586T>A | CA371556999 | PEX2 | c.593A>T (p.His198Leu) | |
| 8 | g.76983586T>C | CA371557000 | PEX2 | c.593A>G (p.His198Arg) | |
| 8 | g.76983586T>G | CA371557001 | PEX2 | c.593A>C (p.His198Pro) | |
| 8 | g.76983587G>A | CA371557002 | PEX2 | c.592C>T (p.His198Tyr) | |
| 8 | g.76983587G>C | CA371557003 | PEX2 | c.592C>G (p.His198Asp) | |
| 8 | g.76983587G>T | CA371557004 | PEX2 | c.592C>A (p.His198Asn) | |
| 8 | g.76983588C>A | CA4788684 | PEX2 | c.591G>T (p.Trp197Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983588C= | CA1795351226 | PEX2 | c.591G= (p.Trp197=) | |
| 8 | g.76983588C>G | CA371557006 | PEX2 | c.591G>C (p.Trp197Cys) | |
| 8 | g.76983588C>T | CA371557005 | PEX2 | c.591G>A (p.Trp197Ter) | |
| 8 | g.76983589C>A | CA371557007 | PEX2 | c.590G>T (p.Trp197Leu) | |
| 8 | g.76983589C= | CA1795351233 | PEX2 | c.590G= (p.Trp197=) | |
| 8 | g.76983589C>G | CA371557008 | PEX2 | c.590G>C (p.Trp197Ser) | dbSNP |
| 8 | g.76983589C>T | CA371557009 | PEX2 | c.590G>A (p.Trp197Ter) | |
| 8 | g.76983589_76983590del | CA2687718864 | PEX2 | c.589_590del (p.Trp197AlafsTer5) | gnomAD v4 |
| 8 | g.76983590A>C | CA371557010 | PEX2 | c.589T>G (p.Trp197Gly) | |
| 8 | g.76983590A>G | CA371557011 | PEX2 | c.589T>C (p.Trp197Arg) | COSMIC |
| 8 | g.76983590A>T | CA371557012 | PEX2 | c.589T>A (p.Trp197Arg) | |
| 8 | g.76983591G>A | CA461773349 | PEX2 | c.588C>T (p.Leu196=) | |
| 8 | g.76983591G>C | CA461773350 | PEX2 | c.588C>G (p.Leu196=) | gnomAD v4 COSMIC |
| 8 | g.76983591G>T | CA461773351 | PEX2 | c.588C>A (p.Leu196=) | |
| 8 | g.76983592A= | CA1795351237 | PEX2 | c.587T= (p.Leu196=) | |
| 8 | g.76983592A>C | CA371557013 | PEX2 | c.587T>G (p.Leu196Arg) | |
| 8 | g.76983592A>G | CA371557014 | PEX2 | c.587T>C (p.Leu196Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983592A>T | CA371557015 | PEX2 | c.587T>A (p.Leu196His) | |
| 8 | g.76983593G>A | CA371557016 | PEX2 | c.586C>T (p.Leu196Phe) | |
| 8 | g.76983593G>C | CA371557017 | PEX2 | c.586C>G (p.Leu196Val) | |
| 8 | g.76983593G>T | CA371557018 | PEX2 | c.586C>A (p.Leu196Ile) | |
| 8 | g.76983594A>C | CA461773354 | PEX2 | c.585T>G (p.Leu195=) | |
| 8 | g.76983594A>G | CA461773355 | PEX2 | c.585T>C (p.Leu195=) | ClinVar gnomAD v4 |
| 8 | g.76983594A>T | CA461773356 | PEX2 | c.585T>A (p.Leu195=) | |
| 8 | g.76983595A= | CA1795351242 | PEX2 | c.584T= (p.Leu195=) | |
| 8 | g.76983595A>C | CA371557020 | PEX2 | c.584T>G (p.Leu195Arg) | |
| 8 | g.76983595A>G | CA179988262 | PEX2 | c.584T>C (p.Leu195Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983595A>T | CA371557019 | PEX2 | c.584T>A (p.Leu195His) | |
| 8 | g.76983596G>A | CA371557021 | PEX2 | c.583C>T (p.Leu195Phe) | gnomAD v4 |
| 8 | g.76983596G>C | CA371557022 | PEX2 | c.583C>G (p.Leu195Val) | |
| 8 | g.76983596G>T | CA371557023 | PEX2 | c.583C>A (p.Leu195Ile) | |
| 8 | g.76983597T>A | CA179988263 | PEX2 | c.582A>T (p.Glu194Asp) | dbSNP |
| 8 | g.76983597T>C | CA461773359 | PEX2 | c.582A>G (p.Glu194=) | COSMIC |
| 8 | g.76983597T>G | CA371557024 | PEX2 | c.582A>C (p.Glu194Asp) | |
| 8 | g.76983597T= | CA1795351246 | PEX2 | c.582A= (p.Glu194=) | |
| 8 | g.76983598T>A | CA371557027 | PEX2 | c.581A>T (p.Glu194Val) | |
| 8 | g.76983598T>C | CA371557025 | PEX2 | c.581A>G (p.Glu194Gly) | |
| 8 | g.76983598T>G | CA371557026 | PEX2 | c.581A>C (p.Glu194Ala) | |
| 8 | g.76983598_76983599insACA | CA2780922350 | PEX2 | c.580_581insTGT (p.Glu194ValfsTer2) | |
| 8 | g.76983599C>A | CA371557028 | PEX2 | c.580G>T (p.Glu194Ter) | |
| 8 | g.76983599C>G | CA371557029 | PEX2 | c.580G>C (p.Glu194Gln) | |
| 8 | g.76983599C>T | CA371557030 | PEX2 | c.580G>A (p.Glu194Lys) | |
| 8 | g.76983601del | CA2687718865 | PEX2 | c.580del (p.Glu194AsnfsTer11) | gnomAD v4 |
| 8 | g.76983600C>A | CA371557031 | PEX2 | c.579G>T (p.Arg193Ser) | |
| 8 | g.76983600C= | CA1795351251 | PEX2 | c.579G= (p.Arg193=) | |
| 8 | g.76983600C>G | CA371557032 | PEX2 | c.579G>C (p.Arg193Ser) | |
| 8 | g.76983600C>T | CA461773361 | PEX2 | c.579G>A (p.Arg193=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983601C>A | CA371557035 | PEX2 | c.578G>T (p.Arg193Met) | |
| 8 | g.76983601C= | CA1795351257 | PEX2 | c.578G= (p.Arg193=) | |
| 8 | g.76983601C>G | CA371557034 | PEX2 | c.578G>C (p.Arg193Thr) | |
| 8 | g.76983601C>T | CA371557033 | PEX2 | c.578G>A (p.Arg193Lys) | dbSNP gnomAD v4 |
| 8 | g.76983602T>A | CA371557036 | PEX2 | c.577A>T (p.Arg193Trp) | |
| 8 | g.76983602T>C | CA371557037 | PEX2 | c.577A>G (p.Arg193Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983602T>G | CA461773363 | PEX2 | c.577A>C (p.Arg193=) | |
| 8 | g.76983602T= | CA1795351259 | PEX2 | c.577A= (p.Arg193=) | |
| 8 | g.76983603A= | CA1795351266 | PEX2 | c.576T= (p.Asn192=) | |
| 8 | g.76983603A>C | CA371557038 | PEX2 | c.576T>G (p.Asn192Lys) | |
| 8 | g.76983603A>G | CA461773364 | PEX2 | c.576T>C (p.Asn192=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983603A>T | CA371557039 | PEX2 | c.576T>A (p.Asn192Lys) | |
| 8 | g.76983604T>A | CA371557040 | PEX2 | c.575A>T (p.Asn192Ile) | |
| 8 | g.76983604T>C | CA371557042 | PEX2 | c.575A>G (p.Asn192Ser) | ClinVar gnomAD v4 |
| 8 | g.76983604T>G | CA371557041 | PEX2 | c.575A>C (p.Asn192Thr) | |
| 8 | g.76983605T>A | CA371557043 | PEX2 | c.574A>T (p.Asn192Tyr) | |
| 8 | g.76983605T>C | CA371557044 | PEX2 | c.574A>G (p.Asn192Asp) | |
| 8 | g.76983605T>G | CA371557045 | PEX2 | c.574A>C (p.Asn192His) | |
| 8 | g.76983606C>A | CA371557046 | PEX2 | c.573G>T (p.Met191Ile) | COSMIC |
| 8 | g.76983606C>G | CA371557047 | PEX2 | c.573G>C (p.Met191Ile) | ClinVar dbSNP |
| 8 | g.76983606C>T | CA371557048 | PEX2 | c.573G>A (p.Met191Ile) | |
| 8 | g.76983607A= | CA1795351268 | PEX2 | c.572T= (p.Met191=) | |
| 8 | g.76983607A>C | CA371557049 | PEX2 | c.572T>G (p.Met191Arg) | |
| 8 | g.76983607A>G | CA371557050 | PEX2 | c.572T>C (p.Met191Thr) | dbSNP gnomAD v4 |
| 8 | g.76983607A>T | CA371557051 | PEX2 | c.572T>A (p.Met191Lys) | |
| 8 | g.76983608del | CA2573143376 | PEX2 | c.571del (p.Met191Ter) | ClinVar dbSNP |
| 8 | g.76983608T>A | CA371557052 | PEX2 | c.571A>T (p.Met191Leu) | |
| 8 | g.76983608T>C | CA4788685 | PEX2 | c.571A>G (p.Met191Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983608T>G | CA371557053 | PEX2 | c.571A>C (p.Met191Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983608T= | CA1795351273 | PEX2 | c.571A= (p.Met191=) | |
| 8 | g.76983609G>A | CA4788686 | PEX2 | c.570C>T (p.Tyr190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983609G>C | CA371557054 | PEX2 | c.570C>G (p.Tyr190Ter) | gnomAD v4 |
| 8 | g.76983609G= | CA1795351276 | PEX2 | c.570C= (p.Tyr190=) | |
| 8 | g.76983609G>T | CA371557055 | PEX2 | c.570C>A (p.Tyr190Ter) | |
| 8 | g.76983610T>A | CA371557056 | PEX2 | c.569A>T (p.Tyr190Phe) | |
| 8 | g.76983610T>C | CA371557057 | PEX2 | c.569A>G (p.Tyr190Cys) | dbSNP |
| 8 | g.76983610T>G | CA371557058 | PEX2 | c.569A>C (p.Tyr190Ser) | |
| 8 | g.76983611A>C | CA371557059 | PEX2 | c.568T>G (p.Tyr190Asp) | |
| 8 | g.76983611A>G | CA371557060 | PEX2 | c.568T>C (p.Tyr190His) | |
| 8 | g.76983611A>T | CA371557061 | PEX2 | c.568T>A (p.Tyr190Asn) | |
| 8 | g.76983612T>A | CA371557062 | PEX2 | c.567A>T (p.Glu189Asp) | |
| 8 | g.76983612T>C | CA461773366 | PEX2 | c.567A>G (p.Glu189=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983612T>G | CA371557063 | PEX2 | c.567A>C (p.Glu189Asp) | |
| 8 | g.76983612T= | CA1795351281 | PEX2 | c.567A= (p.Glu189=) | |
| 8 | g.76983613T>A | CA371557064 | PEX2 | c.566A>T (p.Glu189Val) | |
| 8 | g.76983613T>C | CA371557065 | PEX2 | c.566A>G (p.Glu189Gly) | gnomAD v4 |
| 8 | g.76983613T>G | CA371557066 | PEX2 | c.566A>C (p.Glu189Ala) | |
| 8 | g.76983614C>A | CA371557069 | PEX2 | c.565G>T (p.Glu189Ter) | |
| 8 | g.76983614C= | CA1795351284 | PEX2 | c.565G= (p.Glu189=) | |
| 8 | g.76983614C>G | CA371557068 | PEX2 | c.565G>C (p.Glu189Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983614C>T | CA371557067 | PEX2 | c.565G>A (p.Glu189Lys) | |
| 8 | g.76983615A>C | CA371557070 | PEX2 | c.564T>G (p.Phe188Leu) | |
| 8 | g.76983615A>G | CA461773369 | PEX2 | c.564T>C (p.Phe188=) | |
| 8 | g.76983615A>T | CA371557071 | PEX2 | c.564T>A (p.Phe188Leu) | |
| 8 | g.76983617del | CA2687718866 | PEX2 | c.564del (p.Phe188LeufsTer4) | gnomAD v4 |
| 8 | g.76983616_76983631del | CA2687718867 | PEX2 | c.549_564del (p.Ile183MetfsTer4) | gnomAD v4 |
| 8 | g.76983616A>C | CA371557072 | PEX2 | c.563T>G (p.Phe188Cys) | gnomAD v4 |
| 8 | g.76983616A>G | CA371557073 | PEX2 | c.563T>C (p.Phe188Ser) | |
| 8 | g.76983616A>T | CA371557074 | PEX2 | c.563T>A (p.Phe188Tyr) | |
| 8 | g.76983617A>C | CA371557077 | PEX2 | c.562T>G (p.Phe188Val) | |
| 8 | g.76983617A>G | CA371557076 | PEX2 | c.562T>C (p.Phe188Leu) | |
| 8 | g.76983617A>T | CA371557075 | PEX2 | c.562T>A (p.Phe188Ile) | |
| 8 | g.76983618G>A | CA461773372 | PEX2 | c.561C>T (p.Gly187=) | gnomAD v4 |
| 8 | g.76983618G>C | CA461773374 | PEX2 | c.561C>G (p.Gly187=) | |
| 8 | g.76983618G>T | CA461773375 | PEX2 | c.561C>A (p.Gly187=) | |
| 8 | g.76983619C>A | CA371557078 | PEX2 | c.560G>T (p.Gly187Val) | |
| 8 | g.76983619C>G | CA371557079 | PEX2 | c.560G>C (p.Gly187Ala) | |
| 8 | g.76983619C>T | CA371557080 | PEX2 | c.560G>A (p.Gly187Asp) | |
| 8 | g.76983620C>A | CA371557081 | PEX2 | c.559G>T (p.Gly187Cys) | |
| 8 | g.76983620C>G | CA371557082 | PEX2 | c.559G>C (p.Gly187Arg) | |
| 8 | g.76983620C>T | CA371557083 | PEX2 | c.559G>A (p.Gly187Ser) | |
| 8 | g.76983620_76983621del | CA2780922351 | PEX2 | c.558_559del (p.Gly187LeufsTer2) | |
| 8 | g.76983621A>C | CA461773381 | PEX2 | c.558T>G (p.Val186=) | gnomAD v4 |
| 8 | g.76983621A>G | CA461773380 | PEX2 | c.558T>C (p.Val186=) | |
| 8 | g.76983621A>T | CA461773379 | PEX2 | c.558T>A (p.Val186=) | |
| 8 | g.76983622A>C | CA371557084 | PEX2 | c.557T>G (p.Val186Gly) | |
| 8 | g.76983622A>G | CA371557086 | PEX2 | c.557T>C (p.Val186Ala) | |
| 8 | g.76983622A>T | CA371557085 | PEX2 | c.557T>A (p.Val186Asp) | |
| 8 | g.76983623C>A | CA371557087 | PEX2 | c.556G>T (p.Val186Phe) | |
| 8 | g.76983623C= | CA1795351288 | PEX2 | c.556G= (p.Val186=) | |
| 8 | g.76983623C>G | CA371557088 | PEX2 | c.556G>C (p.Val186Leu) | |
| 8 | g.76983623C>T | CA179988264 | PEX2 | c.556G>A (p.Val186Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983624T>A | CA371557089 | PEX2 | c.555A>T (p.Glu185Asp) | |
| 8 | g.76983624T>C | CA461773384 | PEX2 | c.555A>G (p.Glu185=) | ClinVar gnomAD v4 |
| 8 | g.76983624T>G | CA179988265 | PEX2 | c.555A>C (p.Glu185Asp) | dbSNP gnomAD v4 |
| 8 | g.76983624T= | CA1795351292 | PEX2 | c.555A= (p.Glu185=) | |
| 8 | g.76983625T>A | CA371557090 | PEX2 | c.554A>T (p.Glu185Val) | |
| 8 | g.76983625T>C | CA371557091 | PEX2 | c.554A>G (p.Glu185Gly) | dbSNP |
| 8 | g.76983625T>G | CA371557092 | PEX2 | c.554A>C (p.Glu185Ala) | |
| 8 | g.76983625T= | CA1795351296 | PEX2 | c.554A= (p.Glu185=) | |
| 8 | g.76983626C>A | CA371557093 | PEX2 | c.553G>T (p.Glu185Ter) | |
| 8 | g.76983626C>G | CA371557094 | PEX2 | c.553G>C (p.Glu185Gln) | |
| 8 | g.76983626C>T | CA371557095 | PEX2 | c.553G>A (p.Glu185Lys) | gnomAD v4 |
| 8 | g.76983627A= | CA1795351298 | PEX2 | c.552T= (p.Cys184=) c.552T= (p.Arg184=) | |
| 8 | g.76983627A>C | CA371557097 | PEX2 | c.552T>G (p.Cys184Trp) c.552T>G (p.Arg184=) | dbSNP |
| 8 | g.76983627A>G | CA461773388 | PEX2 | c.552T>C (p.Cys184=) c.552T>C (p.Arg184=) | |
| 8 | g.76983627A>T | CA371557096 | PEX2 | c.552T>A (p.Cys184Ter) c.552T>A (p.Arg184=) | |
| 8 | g.76983628C>A | CA4788688 | PEX2 | c.551G>T (p.Cys184Phe) c.551G>T (p.Arg184Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983628C= | CA1795351306 | PEX2 | c.551G= (p.Cys184=) c.551G= (p.Arg184=) | |
| 8 | g.76983628C>G | CA371557098 | PEX2 | c.551G>C (p.Cys184Ser) c.551G>C (p.Arg184Pro) | |
| 8 | g.76983628C>T | CA4788687 | PEX2 | c.551G>A (p.Cys184Tyr) c.551G>A (p.Arg184His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983628_76983629delinsAG | CA2573143377 | PEX2 | c.550_551delinsCT (p.Cys184Leu) | ClinVar dbSNP |
| 8 | g.76983628_76983629delinsCA | CA1795351303 | PEX2 | c.550_551delinsTG (p.Cys184=) | |
| 8 | g.76983628_76983629delinsTG | CA658797117 | PEX2 | c.550_551delinsCA (p.Cys184His) | |
| 8 | g.76983628_76983630delinsCAT | CA1795351304 | PEX2 | c.549_551delinsATG (p.Ile183=) | |
| 8 | g.76983628_76983629insG | CA2573143378 | PEX2 | c.550_551insC (p.Cys184SerfsTer2) | ClinVar dbSNP |
| 8 | g.76983629del | CA179988266 | PEX2 | c.550del (p.Cys184ValfsTer8) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983629A= | CA658683512 | PEX2 | c.550T= (p.Cys184=) | |
| 8 | g.76983629A>C | CA371557099 | PEX2 | c.550T>G (p.Cys184Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983629A>G | CA180286 | PEX2 | c.550T>C (p.Cys184Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983629A>T | CA371557100 | PEX2 | c.550T>A (p.Cys184Ser) | gnomAD v4 |
| 8 | g.76983629delinsGG | CA2695201484 | PEX2 | c.550delinsCC (p.Cys184ProfsTer2) | ClinVar |
| 8 | g.76983631_76983632del | CA4788689 | PEX2 | c.549_550del (p.Ile183MetfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983630T>A | CA461773396 | PEX2 | c.549A>T (p.Ile183=) | |
| 8 | g.76983630T>C | CA371557101 | PEX2 | c.549A>G (p.Ile183Met) | |
| 8 | g.76983630T>G | CA461773397 | PEX2 | c.549A>C (p.Ile183=) | |
| 8 | g.76983630_76983631insGT | CA1115556906 | PEX2 | c.549_550insCA (p.Cys184HisfsTer9) c.549_550insCA (p.Arg184HisfsTer9) | gnomAD v3 gnomAD v4 |
| 8 | g.76983631A= | CA1795351332 | PEX2 | c.548T= (p.Ile183=) | |
| 8 | g.76983631A>C | CA371557102 | PEX2 | c.548T>G (p.Ile183Arg) | |
| 8 | g.76983631A>G | CA4788690 | PEX2 | c.548T>C (p.Ile183Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983631A>T | CA371557103 | PEX2 | c.548T>A (p.Ile183Lys) | |
| 8 | g.76983632del | CA2555174319 | PEX2 | c.547del (p.Ile183TyrfsTer9) | |
| 8 | g.76983632T>A | CA371557104 | PEX2 | c.547A>T (p.Ile183Leu) | |
| 8 | g.76983632T>C | CA371557105 | PEX2 | c.547A>G (p.Ile183Val) | gnomAD v4 |
| 8 | g.76983632T>G | CA371557106 | PEX2 | c.547A>C (p.Ile183Leu) | |
| 8 | g.76983633G>A | CA461773400 | PEX2 | c.546C>T (p.Asn182=) | |
| 8 | g.76983633G>C | CA371557107 | PEX2 | c.546C>G (p.Asn182Lys) | |
| 8 | g.76983633G>T | CA371557108 | PEX2 | c.546C>A (p.Asn182Lys) | |
| 8 | g.76983634T>A | CA371557109 | PEX2 | c.545A>T (p.Asn182Ile) | |
| 8 | g.76983634T>C | CA371557110 | PEX2 | c.545A>G (p.Asn182Ser) | gnomAD v4 |
| 8 | g.76983634T>G | CA371557111 | PEX2 | c.545A>C (p.Asn182Thr) | |
| 8 | g.76983635T>A | CA371557112 | PEX2 | c.544A>T (p.Asn182Tyr) | |
| 8 | g.76983635T>C | CA371557113 | PEX2 | c.544A>G (p.Asn182Asp) | |
| 8 | g.76983635T>G | CA371557114 | PEX2 | c.544A>C (p.Asn182His) | |
| 8 | g.76983636T>A | CA371557115 | PEX2 | c.543A>T (p.Gln181His) | |
| 8 | g.76983636T>C | CA461773408 | PEX2 | c.543A>G (p.Gln181=) | |
| 8 | g.76983636T>G | CA371557116 | PEX2 | c.543A>C (p.Gln181His) | |
| 8 | g.76983637T>A | CA371557117 | PEX2 | c.542A>T (p.Gln181Leu) | |
| 8 | g.76983637T>C | CA371557118 | PEX2 | c.542A>G (p.Gln181Arg) | COSMIC |
| 8 | g.76983637T>G | CA371557119 | PEX2 | c.542A>C (p.Gln181Pro) |