| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.76983708del | CA658821645 | PEX2 | c.472del (p.Leu158PhefsTer9) | ClinVar dbSNP |
| 8 | g.76983708G>A | CA461773527 | PEX2 | c.471C>T (p.Phe157=) | gnomAD v4 COSMIC |
| 8 | g.76983708G>C | CA371557269 | PEX2 | c.471C>G (p.Phe157Leu) | |
| 8 | g.76983708G>T | CA371557270 | PEX2 | c.471C>A (p.Phe157Leu) | |
| 8 | g.76983709A>C | CA371557271 | PEX2 | c.470T>G (p.Phe157Cys) | gnomAD v4 |
| 8 | g.76983709A>G | CA371557272 | PEX2 | c.470T>C (p.Phe157Ser) | |
| 8 | g.76983709A>T | CA371557273 | PEX2 | c.470T>A (p.Phe157Tyr) | |
| 8 | g.76983712del | CA2739268832 | PEX2 | c.470del (p.Phe157SerfsTer10) | ClinVar |
| 8 | g.76983710A= | CA1795351458 | PEX2 | c.469T= (p.Phe157=) | |
| 8 | g.76983710A>C | CA371557274 | PEX2 | c.469T>G (p.Phe157Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983710A>G | CA371557275 | PEX2 | c.469T>C (p.Phe157Leu) | |
| 8 | g.76983710A>T | CA371557276 | PEX2 | c.469T>A (p.Phe157Ile) | gnomAD v4 |
| 8 | g.76983711A>C | CA371557277 | PEX2 | c.468T>G (p.Ile156Met) | |
| 8 | g.76983711A>G | CA461773533 | PEX2 | c.468T>C (p.Ile156=) | |
| 8 | g.76983711A>T | CA461773537 | PEX2 | c.468T>A (p.Ile156=) | |
| 8 | g.76983712A= | CA1795351461 | PEX2 | c.467T= (p.Ile156=) | |
| 8 | g.76983712A>C | CA371557278 | PEX2 | c.467T>G (p.Ile156Ser) | |
| 8 | g.76983712A>G | CA371557279 | PEX2 | c.467T>C (p.Ile156Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983712A>T | CA371557280 | PEX2 | c.467T>A (p.Ile156Asn) | |
| 8 | g.76983713T>A | CA371557282 | PEX2 | c.466A>T (p.Ile156Phe) | |
| 8 | g.76983713T>C | CA4788703 | PEX2 | c.466A>G (p.Ile156Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983713T>G | CA371557281 | PEX2 | c.466A>C (p.Ile156Leu) | |
| 8 | g.76983713T= | CA1795351464 | PEX2 | c.466A= (p.Ile156=) | |
| 8 | g.76983714C>A | CA371557283 | PEX2 | c.465G>T (p.Leu155Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983714C= | CA1795351468 | PEX2 | c.465G= (p.Leu155=) | |
| 8 | g.76983714C>G | CA371557284 | PEX2 | c.465G>C (p.Leu155Phe) | |
| 8 | g.76983714C>T | CA461773545 | PEX2 | c.465G>A (p.Leu155=) | ClinVar |
| 8 | g.76983715A>C | CA371557285 | PEX2 | c.464T>G (p.Leu155Trp) | |
| 8 | g.76983715A>G | CA371557286 | PEX2 | c.464T>C (p.Leu155Ser) | |
| 8 | g.76983715A>T | CA371557287 | PEX2 | c.464T>A (p.Leu155Ter) | |
| 8 | g.76983720dup | CA1795351473 | PEX2 | c.464dup (p.Leu155PhefsTer31) c.464dup (p.Leu155PhefsTer?) | |
| 8 | g.76983720del | CA2687718869 | PEX2 | c.464del (p.Leu155Ter) | gnomAD v4 |
| 8 | g.76983716A>C | CA371557288 | PEX2 | c.463T>G (p.Leu155Val) | |
| 8 | g.76983716A>G | CA461773550 | PEX2 | c.463T>C (p.Leu155=) | |
| 8 | g.76983716A>T | CA371557289 | PEX2 | c.463T>A (p.Leu155Met) | |
| 8 | g.76983717A>C | CA371557290 | PEX2 | c.462T>G (p.Phe154Leu) | |
| 8 | g.76983717A>G | CA461773553 | PEX2 | c.462T>C (p.Phe154=) | |
| 8 | g.76983717A>T | CA371557291 | PEX2 | c.462T>A (p.Phe154Leu) | |
| 8 | g.76983718A= | CA1795351475 | PEX2 | c.461T= (p.Phe154=) | |
| 8 | g.76983718A>C | CA4788704 | PEX2 | c.461T>G (p.Phe154Cys) | dbSNP ExAC gnomAD v2 |
| 8 | g.76983718A>G | CA4788705 | PEX2 | c.461T>C (p.Phe154Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983718A>T | CA371557292 | PEX2 | c.461T>A (p.Phe154Tyr) | |
| 8 | g.76983718_76983722delinsAAATT | CA1795351477 | PEX2 | c.457_461delinsAATTT (p.Asn153=) | |
| 8 | g.76983719A= | CA1795351484 | PEX2 | c.460T= (p.Phe154=) | |
| 8 | g.76983719A>C | CA371557294 | PEX2 | c.460T>G (p.Phe154Val) | |
| 8 | g.76983719A>G | CA4788706 | PEX2 | c.460T>C (p.Phe154Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983719A>T | CA371557293 | PEX2 | c.460T>A (p.Phe154Ile) | |
| 8 | g.76983722_76983725del | CA583367324 | PEX2 | c.457_460del (p.Asn153PhefsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983720A>C | CA371557296 | PEX2 | c.459T>G (p.Asn153Lys) | |
| 8 | g.76983720A>G | CA461773562 | PEX2 | c.459T>C (p.Asn153=) | |
| 8 | g.76983720A>T | CA371557295 | PEX2 | c.459T>A (p.Asn153Lys) | |
| 8 | g.76983721T>A | CA371557297 | PEX2 | c.458A>T (p.Asn153Ile) | |
| 8 | g.76983721T>C | CA371557298 | PEX2 | c.458A>G (p.Asn153Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983721T>G | CA371557299 | PEX2 | c.458A>C (p.Asn153Thr) | |
| 8 | g.76983721T= | CA1795351490 | PEX2 | c.458A= (p.Asn153=) | |
| 8 | g.76983722T>A | CA371557300 | PEX2 | c.457A>T (p.Asn153Tyr) | |
| 8 | g.76983722T>C | CA371557301 | PEX2 | c.457A>G (p.Asn153Asp) | gnomAD v4 |
| 8 | g.76983722T>G | CA4788707 | PEX2 | c.457A>C (p.Asn153His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983722T= | CA1795351493 | PEX2 | c.457A= (p.Asn153=) | |
| 8 | g.76983723A= | CA1795351499 | PEX2 | c.456T= (p.Ile152=) | |
| 8 | g.76983723A>C | CA371557302 | PEX2 | c.456T>G (p.Ile152Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.76983723A>G | CA461773571 | PEX2 | c.456T>C (p.Ile152=) | |
| 8 | g.76983723A>T | CA461773574 | PEX2 | c.456T>A (p.Ile152=) | |
| 8 | g.76983723_76983724insC | CA2573143380 | PEX2 | c.455_456insG (p.Ile152MetfsTer2) | ClinVar dbSNP |
| 8 | g.76983724A>C | CA371557303 | PEX2 | c.455T>G (p.Ile152Ser) | |
| 8 | g.76983724A>G | CA371557304 | PEX2 | c.455T>C (p.Ile152Thr) | |
| 8 | g.76983724A>T | CA371557305 | PEX2 | c.455T>A (p.Ile152Asn) | |
| 8 | g.76983725T>A | CA371557306 | PEX2 | c.454A>T (p.Ile152Phe) | |
| 8 | g.76983725T>C | CA371557307 | PEX2 | c.454A>G (p.Ile152Val) | gnomAD v4 |
| 8 | g.76983725T>G | CA371557308 | PEX2 | c.454A>C (p.Ile152Leu) | |
| 8 | g.76983726C>A | CA461773582 | PEX2 | c.453G>T (p.Leu151=) | |
| 8 | g.76983726C>G | CA461773584 | PEX2 | c.453G>C (p.Leu151=) | |
| 8 | g.76983726C>T | CA461773585 | PEX2 | c.453G>A (p.Leu151=) | ClinVar gnomAD v4 |
| 8 | g.76983727A>C | CA371557309 | PEX2 | c.452T>G (p.Leu151Arg) | |
| 8 | g.76983727A>G | CA371557311 | PEX2 | c.452T>C (p.Leu151Pro) | ClinVar dbSNP |
| 8 | g.76983727A>T | CA371557310 | PEX2 | c.452T>A (p.Leu151Gln) | |
| 8 | g.76983728G>A | CA461773590 | PEX2 | c.451C>T (p.Leu151=) | |
| 8 | g.76983728G>C | CA371557312 | PEX2 | c.451C>G (p.Leu151Val) | |
| 8 | g.76983728G>T | CA371557313 | PEX2 | c.451C>A (p.Leu151Met) | |
| 8 | g.76983729C>A | CA461773592 | PEX2 | c.450G>T (p.Gly150=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983729C>G | CA461773593 | PEX2 | c.450G>C (p.Gly150=) | |
| 8 | g.76983729C>T | CA461773596 | PEX2 | c.450G>A (p.Gly150=) | |
| 8 | g.76983730C>A | CA371557314 | PEX2 | c.449G>T (p.Gly150Val) | |
| 8 | g.76983730C= | CA1795351506 | PEX2 | c.449G= (p.Gly150=) | |
| 8 | g.76983730C>G | CA4788708 | PEX2 | c.449G>C (p.Gly150Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983730C>T | CA4788709 | PEX2 | c.449G>A (p.Gly150Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983731C>A | CA371557315 | PEX2 | c.448G>T (p.Gly150Trp) | |
| 8 | g.76983731C>G | CA371557316 | PEX2 | c.448G>C (p.Gly150Arg) | |
| 8 | g.76983731C>T | CA371557317 | PEX2 | c.448G>A (p.Gly150Arg) | gnomAD v4 |
| 8 | g.76983732A= | CA1795351513 | PEX2 | c.447T= (p.Gly149=) | |
| 8 | g.76983732A>C | CA4788710 | PEX2 | c.447T>G (p.Gly149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983732A>G | CA461773601 | PEX2 | c.447T>C (p.Gly149=) | |
| 8 | g.76983732A>T | CA461773599 | PEX2 | c.447T>A (p.Gly149=) | |
| 8 | g.76983733C>A | CA4788711 | PEX2 | c.446G>T (p.Gly149Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983733C= | CA1795351516 | PEX2 | c.446G= (p.Gly149=) | |
| 8 | g.76983733C>G | CA371557318 | PEX2 | c.446G>C (p.Gly149Ala) | |
| 8 | g.76983733C>T | CA371557319 | PEX2 | c.446G>A (p.Gly149Asp) | |
| 8 | g.76983734C>A | CA371557320 | PEX2 | c.445G>T (p.Gly149Cys) | gnomAD v4 |
| 8 | g.76983734C= | CA1795351522 | PEX2 | c.445G= (p.Gly149=) | |
| 8 | g.76983734C>G | CA371557321 | PEX2 | c.445G>C (p.Gly149Arg) | |
| 8 | g.76983734C>T | CA179988270 | PEX2 | c.445G>A (p.Gly149Ser) | dbSNP |
| 8 | g.76983735T>A | CA371557322 | PEX2 | c.444A>T (p.Leu148Phe) | |
| 8 | g.76983735T>C | CA461773608 | PEX2 | c.444A>G (p.Leu148=) | |
| 8 | g.76983735T>G | CA371557323 | PEX2 | c.444A>C (p.Leu148Phe) | gnomAD v4 |
| 8 | g.76983736A>C | CA371557324 | PEX2 | c.443T>G (p.Leu148Ter) | |
| 8 | g.76983736A>G | CA371557325 | PEX2 | c.443T>C (p.Leu148Ser) | |
| 8 | g.76983736A>T | CA371557326 | PEX2 | c.443T>A (p.Leu148Ter) | |
| 8 | g.76983737A>C | CA371557327 | PEX2 | c.442T>G (p.Leu148Val) | |
| 8 | g.76983737A>G | CA461773610 | PEX2 | c.442T>C (p.Leu148=) | |
| 8 | g.76983737A>T | CA371557328 | PEX2 | c.442T>A (p.Leu148Ile) | |
| 8 | g.76983738T>A | CA371557329 | PEX2 | c.441A>T (p.Lys147Asn) | |
| 8 | g.76983738T>C | CA461773612 | PEX2 | c.441A>G (p.Lys147=) | |
| 8 | g.76983738T>G | CA371557330 | PEX2 | c.441A>C (p.Lys147Asn) | |
| 8 | g.76983739T>A | CA371557331 | PEX2 | c.440A>T (p.Lys147Ile) | |
| 8 | g.76983739T>C | CA371557332 | PEX2 | c.440A>G (p.Lys147Arg) | |
| 8 | g.76983739T>G | CA371557333 | PEX2 | c.440A>C (p.Lys147Thr) | |
| 8 | g.76983740T>A | CA371557335 | PEX2 | c.439A>T (p.Lys147Ter) | |
| 8 | g.76983740T>C | CA371557336 | PEX2 | c.439A>G (p.Lys147Glu) | |
| 8 | g.76983740T>G | CA371557337 | PEX2 | c.439A>C (p.Lys147Gln) | |
| 8 | g.76983741C>A | CA371557338 | PEX2 | c.438G>T (p.Leu146Phe) | gnomAD v4 COSMIC |
| 8 | g.76983741C>G | CA371557339 | PEX2 | c.438G>C (p.Leu146Phe) | |
| 8 | g.76983741C>T | CA461773198 | PEX2 | c.438G>A (p.Leu146=) | dbSNP |
| 8 | g.76983742A= | CA1795351528 | PEX2 | c.437T= (p.Leu146=) | |
| 8 | g.76983742A>C | CA371557340 | PEX2 | c.437T>G (p.Leu146Trp) | |
| 8 | g.76983742A>G | CA4788712 | PEX2 | c.437T>C (p.Leu146Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983742A>T | CA371557341 | PEX2 | c.437T>A (p.Leu146Ter) | |
| 8 | g.76983743A>C | CA371557342 | PEX2 | c.436T>G (p.Leu146Val) | |
| 8 | g.76983743A>G | CA461773204 | PEX2 | c.436T>C (p.Leu146=) | ClinVar dbSNP |
| 8 | g.76983743A>T | CA371557343 | PEX2 | c.436T>A (p.Leu146Met) | |
| 8 | g.76983744A>C | CA461773205 | PEX2 | c.435T>G (p.Leu145=) | gnomAD v4 |
| 8 | g.76983744A>G | CA461773206 | PEX2 | c.435T>C (p.Leu145=) | |
| 8 | g.76983744A>T | CA461773207 | PEX2 | c.435T>A (p.Leu145=) | |
| 8 | g.76983745A>C | CA371557344 | PEX2 | c.434T>G (p.Leu145Arg) | |
| 8 | g.76983745A>G | CA371557345 | PEX2 | c.434T>C (p.Leu145Pro) | |
| 8 | g.76983745A>T | CA371557346 | PEX2 | c.434T>A (p.Leu145His) | |
| 8 | g.76983746G>A | CA371557347 | PEX2 | c.433C>T (p.Leu145Phe) | |
| 8 | g.76983746G>C | CA371557348 | PEX2 | c.433C>G (p.Leu145Val) | |
| 8 | g.76983746G>T | CA371557349 | PEX2 | c.433C>A (p.Leu145Ile) | |
| 8 | g.76983747T>A | CA461773212 | PEX2 | c.432A>T (p.Gly144=) | |
| 8 | g.76983747T>C | CA461773214 | PEX2 | c.432A>G (p.Gly144=) | |
| 8 | g.76983747T>G | CA461773215 | PEX2 | c.432A>C (p.Gly144=) | |
| 8 | g.76983748C>A | CA371557351 | PEX2 | c.431G>T (p.Gly144Val) | |
| 8 | g.76983748C>G | CA371557352 | PEX2 | c.431G>C (p.Gly144Ala) | COSMIC |
| 8 | g.76983748C>T | CA371557350 | PEX2 | c.431G>A (p.Gly144Glu) | |
| 8 | g.76983749C>A | CA371557353 | PEX2 | c.430G>T (p.Gly144Ter) | |
| 8 | g.76983749C>G | CA371557354 | PEX2 | c.430G>C (p.Gly144Arg) | |
| 8 | g.76983749C>T | CA371557355 | PEX2 | c.430G>A (p.Gly144Arg) | |
| 8 | g.76983750A= | CA1795351532 | PEX2 | c.429T= (p.Ile143=) | |
| 8 | g.76983750A>C | CA371557356 | PEX2 | c.429T>G (p.Ile143Met) | ClinVar dbSNP |
| 8 | g.76983750A>G | CA461773217 | PEX2 | c.429T>C (p.Ile143=) | |
| 8 | g.76983750A>T | CA461773219 | PEX2 | c.429T>A (p.Ile143=) | ClinVar |
| 8 | g.76983751A= | CA1795351535 | PEX2 | c.428T= (p.Ile143=) | |
| 8 | g.76983751A>C | CA371557357 | PEX2 | c.428T>G (p.Ile143Ser) | |
| 8 | g.76983751A>G | CA371557358 | PEX2 | c.428T>C (p.Ile143Thr) | dbSNP |
| 8 | g.76983751A>T | CA371557359 | PEX2 | c.428T>A (p.Ile143Asn) | |
| 8 | g.76983752T>A | CA371557360 | PEX2 | c.427A>T (p.Ile143Phe) | |
| 8 | g.76983752T>C | CA371557361 | PEX2 | c.427A>G (p.Ile143Val) | gnomAD v4 |
| 8 | g.76983752T>G | CA371557362 | PEX2 | c.427A>C (p.Ile143Leu) | |
| 8 | g.76983753C>A | CA461773223 | PEX2 | c.426G>T (p.Val142=) | |
| 8 | g.76983753C>G | CA461773222 | PEX2 | c.426G>C (p.Val142=) | |
| 8 | g.76983753C>T | CA461773221 | PEX2 | c.426G>A (p.Val142=) | |
| 8 | g.76983756_76983768dup | CA2580078956 | PEX2 | c.414_426dup (p.Ile143CysfsTer15) | ClinVar |
| 8 | g.76983754A>C | CA371557363 | PEX2 | c.425T>G (p.Val142Gly) | |
| 8 | g.76983754A>G | CA371557364 | PEX2 | c.425T>C (p.Val142Ala) | |
| 8 | g.76983754A>T | CA371557365 | PEX2 | c.425T>A (p.Val142Glu) | |
| 8 | g.76983755C>A | CA371557368 | PEX2 | c.424G>T (p.Val142Leu) | |
| 8 | g.76983755C>G | CA371557367 | PEX2 | c.424G>C (p.Val142Leu) | |
| 8 | g.76983755C>T | CA371557366 | PEX2 | c.424G>A (p.Val142Met) | |
| 8 | g.76983756A>C | CA371557369 | PEX2 | c.423T>G (p.Phe141Leu) | |
| 8 | g.76983756A>G | CA461773228 | PEX2 | c.423T>C (p.Phe141=) | |
| 8 | g.76983756A>T | CA371557370 | PEX2 | c.423T>A (p.Phe141Leu) | |
| 8 | g.76983759dup | CA645556116 | PEX2 | c.423dup (p.Val142CysfsTer12) | COSMIC |
| 8 | g.76983756_76983757insT | CA461773229 | PEX2 | c.422_423insA (p.Phe141LeufsTer13) | |
| 8 | g.76983757A>C | CA371557371 | PEX2 | c.422T>G (p.Phe141Cys) | |
| 8 | g.76983757A>G | CA371557372 | PEX2 | c.422T>C (p.Phe141Ser) | |
| 8 | g.76983757A>T | CA371557373 | PEX2 | c.422T>A (p.Phe141Tyr) | |
| 8 | g.76983758A>C | CA371557374 | PEX2 | c.421T>G (p.Phe141Val) | |
| 8 | g.76983758A>G | CA371557375 | PEX2 | c.421T>C (p.Phe141Leu) | |
| 8 | g.76983758A>T | CA371557376 | PEX2 | c.421T>A (p.Phe141Ile) | COSMIC |
| 8 | g.76983759A>C | CA371557377 | PEX2 | c.420T>G (p.Asn140Lys) | |
| 8 | g.76983759A>G | CA461773233 | PEX2 | c.420T>C (p.Asn140=) | gnomAD v4 |
| 8 | g.76983759A>T | CA371557378 | PEX2 | c.420T>A (p.Asn140Lys) | |
| 8 | g.76983760T>A | CA371557379 | PEX2 | c.419A>T (p.Asn140Ile) | |
| 8 | g.76983760T>C | CA371557380 | PEX2 | c.419A>G (p.Asn140Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983760T>G | CA371557381 | PEX2 | c.419A>C (p.Asn140Thr) | |
| 8 | g.76983760T= | CA1795351537 | PEX2 | c.419A= (p.Asn140=) | |
| 8 | g.76983761T>A | CA371557382 | PEX2 | c.418A>T (p.Asn140Tyr) | |
| 8 | g.76983761T>C | CA371557384 | PEX2 | c.418A>G (p.Asn140Asp) | |
| 8 | g.76983761T>G | CA371557383 | PEX2 | c.418A>C (p.Asn140His) | |
| 8 | g.76983762C>A | CA461773237 | PEX2 | c.417G>T (p.Val139=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983762C= | CA1795351539 | PEX2 | c.417G= (p.Val139=) | |
| 8 | g.76983762C>G | CA461773238 | PEX2 | c.417G>C (p.Val139=) | |
| 8 | g.76983762C>T | CA461773239 | PEX2 | c.417G>A (p.Val139=) | |
| 8 | g.76983767_76983768del | CA2580617183 | PEX2 | c.416_417del (p.Val139GlufsTer14) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983763A>C | CA371557385 | PEX2 | c.416T>G (p.Val139Gly) | gnomAD v4 |
| 8 | g.76983763A>G | CA371557387 | PEX2 | c.416T>C (p.Val139Ala) | |
| 8 | g.76983763A>T | CA371557386 | PEX2 | c.416T>A (p.Val139Glu) | |
| 8 | g.76983764C>A | CA371557388 | PEX2 | c.415G>T (p.Val139Leu) | ClinVar dbSNP |
| 8 | g.76983764C= | CA1795351542 | PEX2 | c.415G= (p.Val139=) | |
| 8 | g.76983764C>G | CA371557390 | PEX2 | c.415G>C (p.Val139Leu) | |
| 8 | g.76983764C>T | CA371557389 | PEX2 | c.415G>A (p.Val139Met) | |
| 8 | g.76983765A>C | CA371557391 | PEX2 | c.414T>G (p.Cys138Trp) | |
| 8 | g.76983765A>G | CA461773243 | PEX2 | c.414T>C (p.Cys138=) | |
| 8 | g.76983765A>T | CA371557392 | PEX2 | c.414T>A (p.Cys138Ter) | |
| 8 | g.76983766C>A | CA371557393 | PEX2 | c.413G>T (p.Cys138Phe) | |
| 8 | g.76983766C>G | CA371557394 | PEX2 | c.413G>C (p.Cys138Ser) | |
| 8 | g.76983766C>T | CA371557395 | PEX2 | c.413G>A (p.Cys138Tyr) | |
| 8 | g.76983767A>C | CA371557396 | PEX2 | c.412T>G (p.Cys138Gly) | |
| 8 | g.76983767A>G | CA371557397 | PEX2 | c.412T>C (p.Cys138Arg) | gnomAD v4 |
| 8 | g.76983767A>T | CA371557398 | PEX2 | c.412T>A (p.Cys138Ser) | ClinVar dbSNP |
| 8 | g.76983768C>A | CA371557399 | PEX2 | c.411G>T (p.Gln137His) | |
| 8 | g.76983768C>G | CA371557400 | PEX2 | c.411G>C (p.Gln137His) | |
| 8 | g.76983768C>T | CA461773247 | PEX2 | c.411G>A (p.Gln137=) | |
| 8 | g.76983769T>A | CA371557403 | PEX2 | c.410A>T (p.Gln137Leu) | |
| 8 | g.76983769T>C | CA371557402 | PEX2 | c.410A>G (p.Gln137Arg) | ClinVar |
| 8 | g.76983769T>G | CA371557401 | PEX2 | c.410A>C (p.Gln137Pro) | |
| 8 | g.76983770G>A | CA371557404 | PEX2 | c.409C>T (p.Gln137Ter) | |
| 8 | g.76983770G>C | CA371557405 | PEX2 | c.409C>G (p.Gln137Glu) | gnomAD v4 |
| 8 | g.76983770G>T | CA371557406 | PEX2 | c.409C>A (p.Gln137Lys) | |
| 8 | g.76983771C>A | CA371557407 | PEX2 | c.408G>T (p.Lys136Asn) | |
| 8 | g.76983771C>G | CA371557408 | PEX2 | c.408G>C (p.Lys136Asn) | |
| 8 | g.76983771C>T | CA461773251 | PEX2 | c.408G>A (p.Lys136=) | |
| 8 | g.76983772T>A | CA371557409 | PEX2 | c.407A>T (p.Lys136Met) | |
| 8 | g.76983772T>C | CA371557410 | PEX2 | c.407A>G (p.Lys136Arg) | |
| 8 | g.76983772T>G | CA371557411 | PEX2 | c.407A>C (p.Lys136Thr) | |
| 8 | g.76983773T>A | CA371557412 | PEX2 | c.406A>T (p.Lys136Ter) | COSMIC |
| 8 | g.76983773T>C | CA371557413 | PEX2 | c.406A>G (p.Lys136Glu) | gnomAD v4 |
| 8 | g.76983773T>G | CA371557414 | PEX2 | c.406A>C (p.Lys136Gln) | |
| 8 | g.76983774G>A | CA461773254 | PEX2 | c.405C>T (p.Val135=) | |
| 8 | g.76983774G>C | CA461773253 | PEX2 | c.405C>G (p.Val135=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983774G= | CA1795351547 | PEX2 | c.405C= (p.Val135=) | |
| 8 | g.76983774G>T | CA461773252 | PEX2 | c.405C>A (p.Val135=) | ClinVar |
| 8 | g.76983775A= | CA1795351553 | PEX2 | c.404T= (p.Val135=) | |
| 8 | g.76983775A>C | CA4788714 | PEX2 | c.404T>G (p.Val135Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983775A>G | CA4788713 | PEX2 | c.404T>C (p.Val135Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983775A>T | CA371557415 | PEX2 | c.404T>A (p.Val135Asp) | |
| 8 | g.76983776C>A | CA371557416 | PEX2 | c.403G>T (p.Val135Phe) | |
| 8 | g.76983776C>G | CA371557417 | PEX2 | c.403G>C (p.Val135Leu) | gnomAD v4 |
| 8 | g.76983776C>T | CA371557418 | PEX2 | c.403G>A (p.Val135Ile) | |
| 8 | g.76983777T>A | CA371557419 | PEX2 | c.402A>T (p.Lys134Asn) | |
| 8 | g.76983777T>C | CA179988271 | PEX2 | c.402A>G (p.Lys134=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983777T>G | CA371557420 | PEX2 | c.402A>C (p.Lys134Asn) | |
| 8 | g.76983777T= | CA1795351559 | PEX2 | c.402A= (p.Lys134=) | |
| 8 | g.76983778T>A | CA371557421 | PEX2 | c.401A>T (p.Lys134Ile) | |
| 8 | g.76983778T>C | CA371557422 | PEX2 | c.401A>G (p.Lys134Arg) | gnomAD v4 |
| 8 | g.76983778T>G | CA371557423 | PEX2 | c.401A>C (p.Lys134Thr) | |
| 8 | g.76983779T>A | CA371557424 | PEX2 | c.400A>T (p.Lys134Ter) | |
| 8 | g.76983779T>C | CA371557425 | PEX2 | c.400A>G (p.Lys134Glu) | dbSNP |
| 8 | g.76983779T>G | CA371557426 | PEX2 | c.400A>C (p.Lys134Gln) | |
| 8 | g.76983779T= | CA1795351564 | PEX2 | c.400A= (p.Lys134=) | |
| 8 | g.76983780C>A | CA461773258 | PEX2 | c.399G>T (p.Gly133=) | |
| 8 | g.76983780C= | CA1795351565 | PEX2 | c.399G= (p.Gly133=) | |
| 8 | g.76983780C>G | CA4788715 | PEX2 | c.399G>C (p.Gly133=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.76983780C>T | CA461773259 | PEX2 | c.399G>A (p.Gly133=) | ClinVar dbSNP |
| 8 | g.76983781C>A | CA371557428 | PEX2 | c.398G>T (p.Gly133Val) | |
| 8 | g.76983781C= | CA1795351568 | PEX2 | c.398G= (p.Gly133=) | |
| 8 | g.76983781C>G | CA4788716 | PEX2 | c.398G>C (p.Gly133Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983781C>T | CA371557427 | PEX2 | c.398G>A (p.Gly133Glu) | |
| 8 | g.76983782C>A | CA371557429 | PEX2 | c.397G>T (p.Gly133Trp) | |
| 8 | g.76983782C>G | CA371557430 | PEX2 | c.397G>C (p.Gly133Arg) | |
| 8 | g.76983782C>T | CA371557431 | PEX2 | c.397G>A (p.Gly133Arg) | gnomAD v4 |
| 8 | g.76983783A= | CA1795351575 | PEX2 | c.396T= (p.Phe132=) | |
| 8 | g.76983783A>C | CA371557432 | PEX2 | c.396T>G (p.Phe132Leu) | dbSNP gnomAD v4 |
| 8 | g.76983783A>G | CA461773260 | PEX2 | c.396T>C (p.Phe132=) | |
| 8 | g.76983783A>T | CA371557433 | PEX2 | c.396T>A (p.Phe132Leu) | |
| 8 | g.76983784_76983785del | CA2695201486 | PEX2 | c.395_396del (p.Phe132TrpfsTer21) | ClinVar |
| 8 | g.76983791_76983800dup | CA2573143381 | PEX2 | c.387_396dup (p.Gly133SerfsTer24) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983784A= | CA1795351579 | PEX2 | c.395T= (p.Phe132=) | |
| 8 | g.76983784A>C | CA371557434 | PEX2 | c.395T>G (p.Phe132Cys) | |
| 8 | g.76983784A>G | CA371557435 | PEX2 | c.395T>C (p.Phe132Ser) | dbSNP |
| 8 | g.76983784A>T | CA371557436 | PEX2 | c.395T>A (p.Phe132Tyr) | gnomAD v4 |
| 8 | g.76983785A>C | CA371557437 | PEX2 | c.394T>G (p.Phe132Val) | |
| 8 | g.76983785A>G | CA371557438 | PEX2 | c.394T>C (p.Phe132Leu) | |
| 8 | g.76983785A>T | CA371557439 | PEX2 | c.394T>A (p.Phe132Ile) | |
| 8 | g.76983786T>A | CA461773264 | PEX2 | c.393A>T (p.Ser131=) | |
| 8 | g.76983786T>C | CA461773265 | PEX2 | c.393A>G (p.Ser131=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983786T>G | CA461773266 | PEX2 | c.393A>C (p.Ser131=) | |
| 8 | g.76983786T= | CA1795351580 | PEX2 | c.393A= (p.Ser131=) | |
| 8 | g.76983787G>A | CA371557441 | PEX2 | c.392C>T (p.Ser131Leu) | |
| 8 | g.76983787G>C | CA371557442 | PEX2 | c.392C>G (p.Ser131Ter) | |
| 8 | g.76983787G>T | CA371557440 | PEX2 | c.392C>A (p.Ser131Ter) | |
| 8 | g.76983788A>C | CA371557445 | PEX2 | c.391T>G (p.Ser131Ala) | |
| 8 | g.76983788A>G | CA371557443 | PEX2 | c.391T>C (p.Ser131Pro) | |
| 8 | g.76983788A>T | CA371557444 | PEX2 | c.391T>A (p.Ser131Thr) | COSMIC |
| 8 | g.76983789T>A | CA461773267 | PEX2 | c.390A>T (p.Ala130=) | |
| 8 | g.76983789T>C | CA461773269 | PEX2 | c.390A>G (p.Ala130=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983789T>G | CA461773271 | PEX2 | c.390A>C (p.Ala130=) | |
| 8 | g.76983789T= | CA1795351581 | PEX2 | c.390A= (p.Ala130=) | |
| 8 | g.76983790G>A | CA371557446 | PEX2 | c.389C>T (p.Ala130Val) | |
| 8 | g.76983790G>C | CA371557447 | PEX2 | c.389C>G (p.Ala130Gly) | |
| 8 | g.76983790G>T | CA371557448 | PEX2 | c.389C>A (p.Ala130Glu) | |
| 8 | g.76983791C>A | CA371557449 | PEX2 | c.388G>T (p.Ala130Ser) | |
| 8 | g.76983791C>G | CA371557450 | PEX2 | c.388G>C (p.Ala130Pro) | |
| 8 | g.76983791C>T | CA371557451 | PEX2 | c.388G>A (p.Ala130Thr) | gnomAD v4 |
| 8 | g.76983792T>A | CA371557452 | PEX2 | c.387A>T (p.Leu129Phe) | |
| 8 | g.76983792T>C | CA461773276 | PEX2 | c.387A>G (p.Leu129=) | |
| 8 | g.76983792T>G | CA371557453 | PEX2 | c.387A>C (p.Leu129Phe) | |
| 8 | g.76983793A= | CA1795351582 | PEX2 | c.386T= (p.Leu129=) | |
| 8 | g.76983793A>C | CA371557454 | PEX2 | c.386T>G (p.Leu129Ter) | |
| 8 | g.76983793A>G | CA371557455 | PEX2 | c.386T>C (p.Leu129Ser) | |
| 8 | g.76983793A>T | CA371557456 | PEX2 | c.386T>A (p.Leu129Ter) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983794A>C | CA371557458 | PEX2 | c.385T>G (p.Leu129Val) | |
| 8 | g.76983794A>G | CA461773278 | PEX2 | c.385T>C (p.Leu129=) | |
| 8 | g.76983794A>T | CA371557457 | PEX2 | c.385T>A (p.Leu129Ile) | |
| 8 | g.76983795A= | CA1795351584 | PEX2 | c.384T= (p.His128=) | |
| 8 | g.76983795A>C | CA371557459 | PEX2 | c.384T>G (p.His128Gln) | |
| 8 | g.76983795A>G | CA461773280 | PEX2 | c.384T>C (p.His128=) | ClinVar |
| 8 | g.76983795A>T | CA371557460 | PEX2 | c.384T>A (p.His128Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983796T>A | CA371557461 | PEX2 | c.383A>T (p.His128Leu) | |
| 8 | g.76983796T>C | CA371557462 | PEX2 | c.383A>G (p.His128Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983796T>G | CA371557463 | PEX2 | c.383A>C (p.His128Pro) | |
| 8 | g.76983796T= | CA1795351586 | PEX2 | c.383A= (p.His128=) | |
| 8 | g.76983797G>A | CA371557464 | PEX2 | c.382C>T (p.His128Tyr) | |
| 8 | g.76983797G>C | CA371557465 | PEX2 | c.382C>G (p.His128Asp) | |
| 8 | g.76983797G>T | CA371557466 | PEX2 | c.382C>A (p.His128Asn) | |
| 8 | g.76983798A= | CA1795351587 | PEX2 | c.381T= (p.His127=) | |
| 8 | g.76983798A>C | CA371557467 | PEX2 | c.381T>G (p.His127Gln) | |
| 8 | g.76983798A>G | CA461773284 | PEX2 | c.381T>C (p.His127=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983798A>T | CA371557468 | PEX2 | c.381T>A (p.His127Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983799T>A | CA371557469 | PEX2 | c.380A>T (p.His127Leu) | |
| 8 | g.76983799T>C | CA371557470 | PEX2 | c.380A>G (p.His127Arg) | |
| 8 | g.76983799T>G | CA371557471 | PEX2 | c.380A>C (p.His127Pro) | |
| 8 | g.76983800G>A | CA371557474 | PEX2 | c.379C>T (p.His127Tyr) | dbSNP |
| 8 | g.76983800G>C | CA371557473 | PEX2 | c.379C>G (p.His127Asp) | |
| 8 | g.76983800G= | CA1795351591 | PEX2 | c.379C= (p.His127=) | |
| 8 | g.76983800G>T | CA371557472 | PEX2 | c.379C>A (p.His127Asn) | |
| 8 | g.76983801G>A | CA461773286 | PEX2 | c.378C>T (p.Asn126=) | gnomAD v4 |
| 8 | g.76983801G>C | CA371557475 | PEX2 | c.378C>G (p.Asn126Lys) | |
| 8 | g.76983801G= | CA1795351597 | PEX2 | c.378C= (p.Asn126=) | |
| 8 | g.76983801G>T | CA4788717 | PEX2 | c.378C>A (p.Asn126Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983802T>A | CA371557476 | PEX2 | c.377A>T (p.Asn126Ile) | |
| 8 | g.76983802T>C | CA371557477 | PEX2 | c.377A>G (p.Asn126Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983802T>G | CA371557478 | PEX2 | c.377A>C (p.Asn126Thr) | |
| 8 | g.76983803T>A | CA371557479 | PEX2 | c.376A>T (p.Asn126Tyr) | |
| 8 | g.76983803T>C | CA371557480 | PEX2 | c.376A>G (p.Asn126Asp) | |
| 8 | g.76983803T>G | CA371557481 | PEX2 | c.376A>C (p.Asn126His) | |
| 8 | g.76983804T>A | CA461773287 | PEX2 | c.375A>T (p.Arg125=) | |
| 8 | g.76983804T>C | CA461773288 | PEX2 | c.375A>G (p.Arg125=) | ClinVar |
| 8 | g.76983804T>G | CA461773289 | PEX2 | c.375A>C (p.Arg125=) | |
| 8 | g.76983805C>A | CA371557482 | PEX2 | c.374G>T (p.Arg125Leu) | dbSNP gnomAD v2 |
| 8 | g.76983805C= | CA1795351602 | PEX2 | c.374G= (p.Arg125=) | |
| 8 | g.76983805C>G | CA371557483 | PEX2 | c.374G>C (p.Arg125Pro) | dbSNP gnomAD v4 |
| 8 | g.76983805C>T | CA4788718 | PEX2 | c.374G>A (p.Arg125Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.76983806G>A | CA4788719 | PEX2 | c.373C>T (p.Arg125Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.76983806G>C | CA371557484 | PEX2 | c.373C>G (p.Arg125Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983806G= | CA1795351605 | PEX2 | c.373C= (p.Arg125=) | |
| 8 | g.76983806G>T | CA4788720 | PEX2 | c.373C>A (p.Arg125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983807A>C | CA371557485 | PEX2 | c.372T>G (p.Phe124Leu) | |
| 8 | g.76983807A>G | CA461773291 | PEX2 | c.372T>C (p.Phe124=) | |
| 8 | g.76983807A>T | CA371557486 | PEX2 | c.372T>A (p.Phe124Leu) | |
| 8 | g.76983810_76983813dup | CA2687718870 | PEX2 | c.369_372dup (p.Arg125ValfsTer30) | gnomAD v4 |
| 8 | g.76983808A>C | CA371557487 | PEX2 | c.371T>G (p.Phe124Cys) | |
| 8 | g.76983808A>G | CA371557488 | PEX2 | c.371T>C (p.Phe124Ser) | |
| 8 | g.76983808A>T | CA371557489 | PEX2 | c.371T>A (p.Phe124Tyr) |