| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.76983675T>A | CA371557199 | PEX2 | c.504A>T (p.Glu168Asp) | |
| 8 | g.76983675T>C | CA461773467 | PEX2 | c.504A>G (p.Glu168=) | |
| 8 | g.76983675T>G | CA371557200 | PEX2 | c.504A>C (p.Glu168Asp) | |
| 8 | g.76983675_76983677delinsTTC | CA1795351385 | PEX2 | c.502_504delinsGAA (p.Glu168=) | |
| 8 | g.76983676_76983678del | CA913141893 | PEX2 | c.502_504del (p.Glu168del) | |
| 8 | g.76983676T>A | CA371557201 | PEX2 | c.503A>T (p.Glu168Val) | |
| 8 | g.76983676T>C | CA371557202 | PEX2 | c.503A>G (p.Glu168Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983676T>G | CA371557203 | PEX2 | c.503A>C (p.Glu168Ala) | |
| 8 | g.76983676T= | CA1795351390 | PEX2 | c.503A= (p.Glu168=) | |
| 8 | g.76983677_76983678del | CA658821644 | PEX2 | c.502_503del (p.Glu168ThrfsTer17) c.502_503del (p.Glu168ThrfsTer?) | ClinVar dbSNP |
| 8 | g.76983677C>A | CA371557204 | PEX2 | c.502G>T (p.Glu168Ter) | ClinVar COSMIC |
| 8 | g.76983677C>G | CA371557205 | PEX2 | c.502G>C (p.Glu168Gln) | |
| 8 | g.76983677C>T | CA371557206 | PEX2 | c.502G>A (p.Glu168Lys) | |
| 8 | g.76983678T>A | CA461773469 | PEX2 | c.501A>T (p.Thr167=) | |
| 8 | g.76983678T>C | CA461773470 | PEX2 | c.501A>G (p.Thr167=) | |
| 8 | g.76983678T>G | CA461773471 | PEX2 | c.501A>C (p.Thr167=) | |
| 8 | g.76983679G>A | CA179988267 | PEX2 | c.500C>T (p.Thr167Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983679G>C | CA371557207 | PEX2 | c.500C>G (p.Thr167Arg) | ClinVar dbSNP |
| 8 | g.76983679G= | CA1795351398 | PEX2 | c.500C= (p.Thr167=) | |
| 8 | g.76983679G>T | CA371557208 | PEX2 | c.500C>A (p.Thr167Lys) | |
| 8 | g.76983680T>A | CA371557210 | PEX2 | c.499A>T (p.Thr167Ser) | |
| 8 | g.76983680T>C | CA371557211 | PEX2 | c.499A>G (p.Thr167Ala) | gnomAD v4 |
| 8 | g.76983680T>G | CA371557209 | PEX2 | c.499A>C (p.Thr167Pro) | |
| 8 | g.76983681C>A | CA371557213 | PEX2 | c.498G>T (p.Leu166Phe) | |
| 8 | g.76983681C>G | CA371557212 | PEX2 | c.498G>C (p.Leu166Phe) | |
| 8 | g.76983681C>T | CA461773476 | PEX2 | c.498G>A (p.Leu166=) | gnomAD v4 |
| 8 | g.76983681_76983683delinsCAA | CA1795351401 | PEX2 | c.496_498delinsTTG (p.Leu166=) | |
| 8 | g.76983682A= | CA1795351407 | PEX2 | c.497T= (p.Leu166=) | |
| 8 | g.76983682A>C | CA371557214 | PEX2 | c.497T>G (p.Leu166Trp) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983682A>G | CA371557215 | PEX2 | c.497T>C (p.Leu166Ser) | |
| 8 | g.76983682A>T | CA371557216 | PEX2 | c.497T>A (p.Leu166Ter) | ClinVar dbSNP |
| 8 | g.76983684dup | CA4788696 | PEX2 | c.497dup (p.Leu166PhefsTer20) c.497dup (p.Leu166PhefsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983683_76983684del | CA855436777 | PEX2 | c.496_497del (p.Leu166AspfsTer19) c.496_497del (p.Leu166AspfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983683A>C | CA371557217 | PEX2 | c.496T>G (p.Leu166Val) | gnomAD v4 |
| 8 | g.76983683A>G | CA461773479 | PEX2 | c.496T>C (p.Leu166=) | |
| 8 | g.76983683A>T | CA371557218 | PEX2 | c.496T>A (p.Leu166Met) | |
| 8 | g.76983684A>C | CA461773480 | PEX2 | c.495T>G (p.Thr165=) | |
| 8 | g.76983684A>G | CA461773482 | PEX2 | c.495T>C (p.Thr165=) | ClinVar |
| 8 | g.76983684A>T | CA461773484 | PEX2 | c.495T>A (p.Thr165=) | ClinVar |
| 8 | g.76983685G>A | CA371557219 | PEX2 | c.494C>T (p.Thr165Ile) | COSMIC |
| 8 | g.76983685G>C | CA371557220 | PEX2 | c.494C>G (p.Thr165Ser) | |
| 8 | g.76983685G>T | CA371557221 | PEX2 | c.494C>A (p.Thr165Asn) | ClinVar |
| 8 | g.76983686T>A | CA371557222 | PEX2 | c.493A>T (p.Thr165Ser) | |
| 8 | g.76983686T>C | CA4788697 | PEX2 | c.493A>G (p.Thr165Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983686T>G | CA371557223 | PEX2 | c.493A>C (p.Thr165Pro) | |
| 8 | g.76983686T= | CA1795351413 | PEX2 | c.493A= (p.Thr165=) | |
| 8 | g.76983687T>A | CA461773486 | PEX2 | c.492A>T (p.Ala164=) | |
| 8 | g.76983687T>C | CA461773487 | PEX2 | c.492A>G (p.Ala164=) | |
| 8 | g.76983687T>G | CA461773488 | PEX2 | c.492A>C (p.Ala164=) | gnomAD v4 |
| 8 | g.76983688G>A | CA371557226 | PEX2 | c.491C>T (p.Ala164Val) | |
| 8 | g.76983688G>C | CA371557224 | PEX2 | c.491C>G (p.Ala164Gly) | |
| 8 | g.76983688G>T | CA371557225 | PEX2 | c.491C>A (p.Ala164Glu) | |
| 8 | g.76983689C>A | CA371557227 | PEX2 | c.490G>T (p.Ala164Ser) | |
| 8 | g.76983689C= | CA1795351419 | PEX2 | c.490G= (p.Ala164=) | |
| 8 | g.76983689C>G | CA371557228 | PEX2 | c.490G>C (p.Ala164Pro) | dbSNP |
| 8 | g.76983689C>T | CA371557229 | PEX2 | c.490G>A (p.Ala164Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983689_76983690delinsCA | CA1795351416 | PEX2 | c.489_490delinsTG (p.Phe163=) | |
| 8 | g.76983690A= | CA1795351423 | PEX2 | c.489T= (p.Phe163=) | |
| 8 | g.76983690A>C | CA371557230 | PEX2 | c.489T>G (p.Phe163Leu) | |
| 8 | g.76983690A>G | CA461773493 | PEX2 | c.489T>C (p.Phe163=) | ClinVar dbSNP |
| 8 | g.76983690A>T | CA371557231 | PEX2 | c.489T>A (p.Phe163Leu) | |
| 8 | g.76983692del | CA4788698 | PEX2 | c.489del (p.Phe163LeufsTer4) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983691_76983692del | CA2831039732 | PEX2 | c.488_489del (p.Phe163CysfsTer22) c.488_489del (p.Phe163CysfsTer?) | |
| 8 | g.76983691A= | CA1795351425 | PEX2 | c.488T= (p.Phe163=) | |
| 8 | g.76983691A>C | CA4788699 | PEX2 | c.488T>G (p.Phe163Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983691A>G | CA371557232 | PEX2 | c.488T>C (p.Phe163Ser) | |
| 8 | g.76983691A>T | CA371557233 | PEX2 | c.488T>A (p.Phe163Tyr) | |
| 8 | g.76983692A>C | CA371557234 | PEX2 | c.487T>G (p.Phe163Val) | |
| 8 | g.76983692A>G | CA371557235 | PEX2 | c.487T>C (p.Phe163Leu) | |
| 8 | g.76983692A>T | CA371557236 | PEX2 | c.487T>A (p.Phe163Ile) | |
| 8 | g.76983693C>A | CA371557238 | PEX2 | c.486G>T (p.Lys162Asn) | |
| 8 | g.76983693C>G | CA371557237 | PEX2 | c.486G>C (p.Lys162Asn) | |
| 8 | g.76983693C>T | CA461773497 | PEX2 | c.486G>A (p.Lys162=) | dbSNP gnomAD v4 |
| 8 | g.76983694T>A | CA371557239 | PEX2 | c.485A>T (p.Lys162Met) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983694T>C | CA371557240 | PEX2 | c.485A>G (p.Lys162Arg) | |
| 8 | g.76983694T>G | CA371557241 | PEX2 | c.485A>C (p.Lys162Thr) | dbSNP gnomAD v4 |
| 8 | g.76983694T= | CA1795351428 | PEX2 | c.485A= (p.Lys162=) | |
| 8 | g.76983694_76983704del | CA2687718868 | PEX2 | c.475_485del (p.Gln159ValfsTer23) c.475_485del (p.Gln159ValfsTer?) | gnomAD v4 |
| 8 | g.76983695T>A | CA371557242 | PEX2 | c.484A>T (p.Lys162Ter) | |
| 8 | g.76983695T>C | CA371557243 | PEX2 | c.484A>G (p.Lys162Glu) | |
| 8 | g.76983695T>G | CA371557244 | PEX2 | c.484A>C (p.Lys162Gln) | |
| 8 | g.76983696T>A | CA461773500 | PEX2 | c.483A>T (p.Gly161=) | |
| 8 | g.76983696T>C | CA461773501 | PEX2 | c.483A>G (p.Gly161=) | ClinVar dbSNP |
| 8 | g.76983696T>G | CA461773503 | PEX2 | c.483A>C (p.Gly161=) | |
| 8 | g.76983696_76983697delinsTC | CA1795351433 | PEX2 | c.482_483delinsGA (p.Gly161=) | |
| 8 | g.76983697C>A | CA371557246 | PEX2 | c.482G>T (p.Gly161Val) | |
| 8 | g.76983697C= | CA1795351436 | PEX2 | c.482G= (p.Gly161=) | |
| 8 | g.76983697C>G | CA371557245 | PEX2 | c.482G>C (p.Gly161Ala) | |
| 8 | g.76983697C>T | CA179988269 | PEX2 | c.482G>A (p.Gly161Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983700del | CA179988268 | PEX2 | c.482del (p.Gly161GlufsTer6) | dbSNP gnomAD v4 |
| 8 | g.76983698C>A | CA371557247 | PEX2 | c.481G>T (p.Gly161Ter) | |
| 8 | g.76983698C= | CA1795351438 | PEX2 | c.481G= (p.Gly161=) | |
| 8 | g.76983698C>G | CA371557248 | PEX2 | c.481G>C (p.Gly161Arg) | |
| 8 | g.76983698C>T | CA4788700 | PEX2 | c.481G>A (p.Gly161Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983699C>A | CA371557249 | PEX2 | c.480G>T (p.Arg160Ser) | |
| 8 | g.76983699C>G | CA371557250 | PEX2 | c.480G>C (p.Arg160Ser) | |
| 8 | g.76983699C>T | CA461773509 | PEX2 | c.480G>A (p.Arg160=) | gnomAD v4 |
| 8 | g.76983700C>A | CA4788701 | PEX2 | c.479G>T (p.Arg160Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983700C= | CA1795351441 | PEX2 | c.479G= (p.Arg160=) | |
| 8 | g.76983700C>G | CA371557252 | PEX2 | c.479G>C (p.Arg160Thr) | |
| 8 | g.76983700C>T | CA371557251 | PEX2 | c.479G>A (p.Arg160Lys) | ClinVar |
| 8 | g.76983701T>A | CA371557253 | PEX2 | c.478A>T (p.Arg160Trp) | |
| 8 | g.76983701T>C | CA371557254 | PEX2 | c.478A>G (p.Arg160Gly) | |
| 8 | g.76983701T>G | CA461773514 | PEX2 | c.478A>C (p.Arg160=) | |
| 8 | g.76983702C>A | CA371557255 | PEX2 | c.477G>T (p.Gln159His) | |
| 8 | g.76983702C= | CA1795351444 | PEX2 | c.477G= (p.Gln159=) | |
| 8 | g.76983702C>G | CA371557256 | PEX2 | c.477G>C (p.Gln159His) | gnomAD v4 |
| 8 | g.76983702C>T | CA4788702 | PEX2 | c.477G>A (p.Gln159=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983703T>A | CA371557257 | PEX2 | c.476A>T (p.Gln159Leu) | |
| 8 | g.76983703T>C | CA371557258 | PEX2 | c.476A>G (p.Gln159Arg) | |
| 8 | g.76983703T>G | CA371557259 | PEX2 | c.476A>C (p.Gln159Pro) | |
| 8 | g.76983704G>A | CA371557260 | PEX2 | c.475C>T (p.Gln159Ter) | ClinVar |
| 8 | g.76983704G>C | CA371557261 | PEX2 | c.475C>G (p.Gln159Glu) | |
| 8 | g.76983704G>T | CA371557262 | PEX2 | c.475C>A (p.Gln159Lys) | |
| 8 | g.76983705A= | CA1795351449 | PEX2 | c.474T= (p.Leu158=) | |
| 8 | g.76983705A>C | CA461773522 | PEX2 | c.474T>G (p.Leu158=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983705A>G | CA461773518 | PEX2 | c.474T>C (p.Leu158=) | |
| 8 | g.76983705A>T | CA461773520 | PEX2 | c.474T>A (p.Leu158=) | |
| 8 | g.76983706A>C | CA371557265 | PEX2 | c.473T>G (p.Leu158Arg) | |
| 8 | g.76983706A>G | CA371557264 | PEX2 | c.473T>C (p.Leu158Pro) | |
| 8 | g.76983706A>T | CA371557263 | PEX2 | c.473T>A (p.Leu158His) | |
| 8 | g.76983706_76983707del | CA913141894 | PEX2 | c.472_473del (p.Leu158SerfsTer27) c.472_473del (p.Leu158SerfsTer?) | |
| 8 | g.76983706_76983707delinsAG | CA1795351450 | PEX2 | c.472_473delinsCT (p.Leu158=) | |
| 8 | g.76983707G>A | CA371557266 | PEX2 | c.472C>T (p.Leu158Phe) | gnomAD v4 COSMIC |
| 8 | g.76983707G>C | CA371557268 | PEX2 | c.472C>G (p.Leu158Val) | |
| 8 | g.76983707G>T | CA371557267 | PEX2 | c.472C>A (p.Leu158Ile) | COSMIC |
| 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) |