| 8 | g.76983756_76983768dup | CA2580078956 | PEX2 | c.414_426dup (p.Ile143CysfsTer15)
| ClinVar |
| 8 | g.76983767_76983768del | CA2580617183 | PEX2 | c.416_417del (p.Val139GlufsTer14)
| ClinVar dbSNP gnomAD v4 |
| 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)
| |
| 8 | g.76983809A>C | CA371557490 | PEX2 | c.370T>G (p.Phe124Val)
| |
| 8 | g.76983809A>G | CA371557491 | PEX2 | c.370T>C (p.Phe124Leu)
| |
| 8 | g.76983809A>T | CA371557492 | PEX2 | c.370T>A (p.Phe124Ile)
| |
| 8 | g.76983809_76983810delinsAC | CA1795351613 | PEX2 | c.369_370delinsGT (p.Leu123=)
| |
| 8 | g.76983810del | CA855437040 | PEX2 | c.369del (p.Leu123PhefsTer7)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983810C>A | CA371557493 | PEX2 | c.369G>T (p.Leu123Phe)
| gnomAD v4 |
| 8 | g.76983810C>G | CA371557494 | PEX2 | c.369G>C (p.Leu123Phe)
| |
| 8 | g.76983810C>T | CA461773293 | PEX2 | c.369G>A (p.Leu123=)
| ClinVar |
| 8 | g.76983811A>C | CA371557495 | PEX2 | c.368T>G (p.Leu123Trp)
| |
| 8 | g.76983811A>G | CA371557496 | PEX2 | c.368T>C (p.Leu123Ser)
| ClinVar dbSNP |
| 8 | g.76983811A>T | CA371557497 | PEX2 | c.368T>A (p.Leu123Ter)
| |
| 8 | g.76983812A>C | CA371557498 | PEX2 | c.367T>G (p.Leu123Val)
| |
| 8 | g.76983812A>G | CA461773295 | PEX2 | c.367T>C (p.Leu123=)
| |
| 8 | g.76983812A>T | CA371557499 | PEX2 | c.367T>A (p.Leu123Met)
| gnomAD v4 |
| 8 | g.76983813A>C | CA371557501 | PEX2 | c.366T>G (p.Asp122Glu)
| |
| 8 | g.76983813A>G | CA461773296 | PEX2 | c.366T>C (p.Asp122=)
| |
| 8 | g.76983813A>T | CA371557500 | PEX2 | c.366T>A (p.Asp122Glu)
| |
| 8 | g.76983814T>A | CA371557502 | PEX2 | c.365A>T (p.Asp122Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983814T>C | CA371557504 | PEX2 | c.365A>G (p.Asp122Gly)
| dbSNP gnomAD v2 |
| 8 | g.76983814T>G | CA371557503 | PEX2 | c.365A>C (p.Asp122Ala)
| |
| 8 | g.76983814T= | CA1795351620 | PEX2 | c.365A= (p.Asp122=)
| |
| 8 | g.76983815C>A | CA371557505 | PEX2 | c.364G>T (p.Asp122Tyr)
| |
| 8 | g.76983815C>G | CA371557506 | PEX2 | c.364G>C (p.Asp122His)
| |
| 8 | g.76983815C>T | CA371557507 | PEX2 | c.364G>A (p.Asp122Asn)
| gnomAD v4 |
| 8 | g.76983816A>C | CA371557508 | PEX2 | c.363T>G (p.Tyr121Ter)
| |
| 8 | g.76983816A>G | CA461773298 | PEX2 | c.363T>C (p.Tyr121=)
| |
| 8 | g.76983816A>T | CA371557509 | PEX2 | c.363T>A (p.Tyr121Ter)
| |
| 8 | g.76983817T>A | CA371557510 | PEX2 | c.362A>T (p.Tyr121Phe)
| |
| 8 | g.76983817T>C | CA4788721 | PEX2 | c.362A>G (p.Tyr121Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983817T>G | CA371557511 | PEX2 | c.362A>C (p.Tyr121Ser)
| |
| 8 | g.76983817T= | CA1795351623 | PEX2 | c.362A= (p.Tyr121=)
| |
| 8 | g.76983818A= | CA1795351627 | PEX2 | c.361T= (p.Tyr121=)
| |
| 8 | g.76983818A>C | CA371557512 | PEX2 | c.361T>G (p.Tyr121Asp)
| |
| 8 | g.76983818A>G | CA371557514 | PEX2 | c.361T>C (p.Tyr121His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983818A>T | CA371557513 | PEX2 | c.361T>A (p.Tyr121Asn)
| |
| 8 | g.76983819G>A | CA461773299 | PEX2 | c.360C>T (p.Cys120=)
| |
| 8 | g.76983819G>C | CA371557515 | PEX2 | c.360C>G (p.Cys120Trp)
| |
| 8 | g.76983819G>T | CA371557516 | PEX2 | c.360C>A (p.Cys120Ter)
| |
| 8 | g.76983820C>A | CA371557517 | PEX2 | c.359G>T (p.Cys120Phe)
| dbSNP |
| 8 | g.76983820C= | CA1795351629 | PEX2 | c.359G= (p.Cys120=)
| |
| 8 | g.76983820C>G | CA371557518 | PEX2 | c.359G>C (p.Cys120Ser)
| |
| 8 | g.76983820C>T | CA371557519 | PEX2 | c.359G>A (p.Cys120Tyr)
| |
| 8 | g.76983821A>C | CA371557520 | PEX2 | c.358T>G (p.Cys120Gly)
| |
| 8 | g.76983821A>G | CA371557522 | PEX2 | c.358T>C (p.Cys120Arg)
| |
| 8 | g.76983821A>T | CA371557521 | PEX2 | c.358T>A (p.Cys120Ser)
| |
| 8 | g.76983822T>A | CA461773303 | PEX2 | c.357A>T (p.Arg119=)
| |
| 8 | g.76983822T>C | CA461773304 | PEX2 | c.357A>G (p.Arg119=)
| gnomAD v4 |
| 8 | g.76983822T>G | CA4788722 | PEX2 | c.357A>C (p.Arg119=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983822T= | CA1795351630 | PEX2 | c.357A= (p.Arg119=)
| |
| 8 | g.76983823_76983825del | CA913141895 | PEX2 | c.355_357del (p.Arg119del)
| |
| 8 | g.76983824_76983827del | CA913141896 | PEX2 | c.354_357del (p.Glu118AspfsTer11)
| |
| 8 | g.76983823C>A | CA371557523 | PEX2 | c.356G>T (p.Arg119Leu)
| |
| 8 | g.76983823C>G | CA371557524 | PEX2 | c.356G>C (p.Arg119Pro)
| |
| 8 | g.76983823C>T | CA371557525 | PEX2 | c.356G>A (p.Arg119Gln)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983823_76983825delinsCGT | CA1795351631 | PEX2 | c.354_356delinsACG (p.Glu118=)
| |
| 8 | g.76983824G>A | CA123377 | PEX2 | c.355C>T (p.Arg119Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983824G>C | CA371557526 | PEX2 | c.355C>G (p.Arg119Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983824G= | CA1795351632 | PEX2 | c.355C= (p.Arg119=)
| |
| 8 | g.76983824G>T | CA461773305 | PEX2 | c.355C>A (p.Arg119=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983824_76983825del | CA658821646 | PEX2 | c.354_355del (p.Arg119MetfsTer3)
| ClinVar dbSNP |
| 8 | g.76983824_76983827delinsGTTC | CA1795351633 | PEX2 | c.352_355delinsGAAC (p.Glu118=)
| |
| 8 | g.76983825T>A | CA371557527 | PEX2 | c.354A>T (p.Glu118Asp)
| |
| 8 | g.76983825T>C | CA4788723 | PEX2 | c.354A>G (p.Glu118=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983825T>G | CA371557528 | PEX2 | c.354A>C (p.Glu118Asp)
| |
| 8 | g.76983825T= | CA1795351634 | PEX2 | c.354A= (p.Glu118=)
| |
| 8 | g.76983829_76983831del | CA658821647 | PEX2 | c.352_354del (p.Glu118del)
| ClinVar dbSNP |
| 8 | g.76983826T>A | CA371557529 | PEX2 | c.353A>T (p.Glu118Val)
| |
| 8 | g.76983826T>C | CA371557530 | PEX2 | c.353A>G (p.Glu118Gly)
| |
| 8 | g.76983826T>G | CA371557531 | PEX2 | c.353A>C (p.Glu118Ala)
| |
| 8 | g.76983826_76983827delinsTC | CA1795351636 | PEX2 | c.352_353delinsGA (p.Glu118=)
| |
| 8 | g.76983827del | CA4788724 | PEX2 | c.352del (p.Glu118AsnfsTer12)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983827C>A | CA371557532 | PEX2 | c.352G>T (p.Glu118Ter)
| |
| 8 | g.76983827C= | CA1795351638 | PEX2 | c.352G= (p.Glu118=)
| |
| 8 | g.76983827C>G | CA371557533 | PEX2 | c.352G>C (p.Glu118Gln)
| |
| 8 | g.76983827C>T | CA371557534 | PEX2 | c.352G>A (p.Glu118Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983828T>A | CA371557535 | PEX2 | c.351A>T (p.Glu117Asp)
| COSMIC |
| 8 | g.76983828T>C | CA461773308 | PEX2 | c.351A>G (p.Glu117=)
| ClinVar dbSNP |
| 8 | g.76983828T>G | CA371557536 | PEX2 | c.351A>C (p.Glu117Asp)
| |
| 8 | g.76983829T>A | CA371557537 | PEX2 | c.350A>T (p.Glu117Val)
| |
| 8 | g.76983829T>C | CA371557538 | PEX2 | c.350A>G (p.Glu117Gly)
| |
| 8 | g.76983829T>G | CA371557539 | PEX2 | c.350A>C (p.Glu117Ala)
| |
| 8 | g.76983830C>A | CA371557540 | PEX2 | c.349G>T (p.Glu117Ter)
| |
| 8 | g.76983830C>G | CA371557541 | PEX2 | c.349G>C (p.Glu117Gln)
| |
| 8 | g.76983830C>T | CA371557542 | PEX2 | c.349G>A (p.Glu117Lys)
| gnomAD v4 |
| 8 | g.76983831T>A | CA371557543 | PEX2 | c.348A>T (p.Leu116Phe)
| |
| 8 | g.76983831T>C | CA4788725 | PEX2 | c.348A>G (p.Leu116=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983831T>G | CA371557544 | PEX2 | c.348A>C (p.Leu116Phe)
| |
| 8 | g.76983831T= | CA1795351639 | PEX2 | c.348A= (p.Leu116=)
| |
| 8 | g.76983832A>C | CA371557546 | PEX2 | c.347T>G (p.Leu116Ter)
| |
| 8 | g.76983832A>G | CA371557547 | PEX2 | c.347T>C (p.Leu116Ser)
| |
| 8 | g.76983832A>T | CA371557545 | PEX2 | c.347T>A (p.Leu116Ter)
| |
| 8 | g.76983833A>C | CA371557548 | PEX2 | c.346T>G (p.Leu116Val)
| |
| 8 | g.76983833A>G | CA461773314 | PEX2 | c.346T>C (p.Leu116=)
| |
| 8 | g.76983833A>T | CA371557549 | PEX2 | c.346T>A (p.Leu116Ile)
| |
| 8 | g.76983833_76983840delinsACCACCTG | CA1795351640 | PEX2 | c.339_346delinsCAGGTGGT (p.Gly113=)
| |
| 8 | g.76983834C>A | CA371557550 | PEX2 | c.345G>T (p.Trp115Cys)
| |
| 8 | g.76983834C>G | CA371557551 | PEX2 | c.345G>C (p.Trp115Cys)
| |
| 8 | g.76983834C>T | CA371557552 | PEX2 | c.345G>A (p.Trp115Ter)
| |
| 8 | g.76983839_76983845del | CA4788726 | PEX2 | c.339_345del (p.Arg114Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983835C>A | CA371557553 | PEX2 | c.344G>T (p.Trp115Leu)
| |
| 8 | g.76983835C= | CA1795351641 | PEX2 | c.344G= (p.Trp115=)
| |
| 8 | g.76983835C>G | CA4788728 | PEX2 | c.344G>C (p.Trp115Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983835C>T | CA4788727 | PEX2 | c.344G>A (p.Trp115Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983836A= | CA1795351644 | PEX2 | c.343T= (p.Trp115=)
| |
| 8 | g.76983836A>C | CA371557554 | PEX2 | c.343T>G (p.Trp115Gly)
| dbSNP |
| 8 | g.76983836A>G | CA371557555 | PEX2 | c.343T>C (p.Trp115Arg)
| |
| 8 | g.76983836A>T | CA371557556 | PEX2 | c.343T>A (p.Trp115Arg)
| |
| 8 | g.76983837C>A | CA371557558 | PEX2 | c.342G>T (p.Arg114Ser)
| |
| 8 | g.76983837C= | CA1795351645 | PEX2 | c.342G= (p.Arg114=)
| |
| 8 | g.76983837C>G | CA371557557 | PEX2 | c.342G>C (p.Arg114Ser)
| |
| 8 | g.76983837C>T | CA4788729 | PEX2 | c.342G>A (p.Arg114=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983838C>A | CA371557559 | PEX2 | c.341G>T (p.Arg114Met)
| |
| 8 | g.76983838C>G | CA371557560 | PEX2 | c.341G>C (p.Arg114Thr)
| |
| 8 | g.76983838C>T | CA371557561 | PEX2 | c.341G>A (p.Arg114Lys)
| COSMIC |
| 8 | g.76983839T>A | CA371557562 | PEX2 | c.340A>T (p.Arg114Trp)
| |
| 8 | g.76983839T>C | CA371557563 | PEX2 | c.340A>G (p.Arg114Gly)
| |
| 8 | g.76983839T>G | CA461773323 | PEX2 | c.340A>C (p.Arg114=)
| |
| 8 | g.76983840G>A | CA461773325 | PEX2 | c.339C>T (p.Gly113=)
| |
| 8 | g.76983840G>C | CA461773328 | PEX2 | c.339C>G (p.Gly113=)
| |
| 8 | g.76983840G>T | CA461773327 | PEX2 | c.339C>A (p.Gly113=)
| |
| 8 | g.76983841C>A | CA371557566 | PEX2 | c.338G>T (p.Gly113Val)
| gnomAD v4 |
| 8 | g.76983841C>G | CA371557565 | PEX2 | c.338G>C (p.Gly113Ala)
| |
| 8 | g.76983841C>T | CA371557564 | PEX2 | c.338G>A (p.Gly113Asp)
| ClinVar |
| 8 | g.76983842C>A | CA371557567 | PEX2 | c.337G>T (p.Gly113Cys)
| |
| 8 | g.76983842C>G | CA371557568 | PEX2 | c.337G>C (p.Gly113Arg)
| |
| 8 | g.76983842C>T | CA371557569 | PEX2 | c.337G>A (p.Gly113Ser)
| |
| 8 | g.76983843A>C | CA461773331 | PEX2 | c.336T>G (p.Gly112=)
| |
| 8 | g.76983843A>G | CA461773332 | PEX2 | c.336T>C (p.Gly112=)
| |
| 8 | g.76983843A>T | CA461773333 | PEX2 | c.336T>A (p.Gly112=)
| |
| 8 | g.76983844C>A | CA371557570 | PEX2 | c.335G>T (p.Gly112Val)
| gnomAD v4 |
| 8 | g.76983844C= | CA1795351648 | PEX2 | c.335G= (p.Gly112=)
| |
| 8 | g.76983844C>G | CA4788730 | PEX2 | c.335G>C (p.Gly112Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983844C>T | CA371557571 | PEX2 | c.335G>A (p.Gly112Asp)
| |
| 8 | g.76983845C>A | CA371557574 | PEX2 | c.334G>T (p.Gly112Cys)
| gnomAD v4 |
| 8 | g.76983845C>G | CA371557572 | PEX2 | c.334G>C (p.Gly112Arg)
| |
| 8 | g.76983845C>T | CA371557573 | PEX2 | c.334G>A (p.Gly112Ser)
| |
| 8 | g.76983846A= | CA1795351649 | PEX2 | c.333T= (p.Ile111=)
| |
| 8 | g.76983846A>C | CA371557575 | PEX2 | c.333T>G (p.Ile111Met)
| |
| 8 | g.76983846A>G | CA461773337 | PEX2 | c.333T>C (p.Ile111=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983846A>T | CA461773338 | PEX2 | c.333T>A (p.Ile111=)
| |
| 8 | g.76983847A= | CA1795351650 | PEX2 | c.332T= (p.Ile111=)
| |
| 8 | g.76983847A>C | CA371557576 | PEX2 | c.332T>G (p.Ile111Ser)
| gnomAD v4 |
| 8 | g.76983847A>G | CA4788731 | PEX2 | c.332T>C (p.Ile111Thr)
| dbSNP ExAC gnomAD v2 |
| 8 | g.76983847A>T | CA371557578 | PEX2 | c.332T>A (p.Ile111Asn)
| |
| 8 | g.76983848T>A | CA371557579 | PEX2 | c.331A>T (p.Ile111Phe)
| gnomAD v4 |
| 8 | g.76983848T>C | CA4788732 | PEX2 | c.331A>G (p.Ile111Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983848T>G | CA371557580 | PEX2 | c.331A>C (p.Ile111Leu)
| |
| 8 | g.76983848T= | CA1795351651 | PEX2 | c.331A= (p.Ile111=)
| |
| 8 | g.76983849T>A | CA461773343 | PEX2 | c.330A>T (p.Thr110=)
| |
| 8 | g.76983849T>C | CA461773344 | PEX2 | c.330A>G (p.Thr110=)
| |
| 8 | g.76983849T>G | CA461773342 | PEX2 | c.330A>C (p.Thr110=)
| |
| 8 | g.76983850G>A | CA371557581 | PEX2 | c.329C>T (p.Thr110Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983850G>C | CA371557582 | PEX2 | c.329C>G (p.Thr110Arg)
| |
| 8 | g.76983850G= | CA1795351652 | PEX2 | c.329C= (p.Thr110=)
| |
| 8 | g.76983850G>T | CA371557583 | PEX2 | c.329C>A (p.Thr110Lys)
| |
| 8 | g.76983851T>A | CA371557584 | PEX2 | c.328A>T (p.Thr110Ser)
| |
| 8 | g.76983851T>C | CA371557585 | PEX2 | c.328A>G (p.Thr110Ala)
| |
| 8 | g.76983851T>G | CA371557586 | PEX2 | c.328A>C (p.Thr110Pro)
| |
| 8 | g.76983852A= | CA1795351653 | PEX2 | c.327T= (p.Cys109=)
| |
| 8 | g.76983852A>C | CA371557587 | PEX2 | c.327T>G (p.Cys109Trp)
| |
| 8 | g.76983852A>G | CA4788733 | PEX2 | c.327T>C (p.Cys109=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983852A>T | CA371557588 | PEX2 | c.327T>A (p.Cys109Ter)
| |
| 8 | g.76983853C>A | CA371557589 | PEX2 | c.326G>T (p.Cys109Phe)
| |
| 8 | g.76983853C= | CA1795351654 | PEX2 | c.326G= (p.Cys109=)
| |
| 8 | g.76983853C>G | CA371557590 | PEX2 | c.326G>C (p.Cys109Ser)
| |
| 8 | g.76983853C>T | CA371557591 | PEX2 | c.326G>A (p.Cys109Tyr)
| |
| 8 | g.76983855_76983861del | CA2739268833 | PEX2 | c.320_326del (p.Ala107ValfsTer8)
| ClinVar |
| 8 | g.76983854A= | CA1795351655 | PEX2 | c.325T= (p.Cys109=)
| |
| 8 | g.76983854A>C | CA371557592 | PEX2 | c.325T>G (p.Cys109Gly)
| |
| 8 | g.76983854A>G | CA179988273 | PEX2 | c.325T>C (p.Cys109Arg)
| dbSNP |
| 8 | g.76983854A>T | CA371557593 | PEX2 | c.325T>A (p.Cys109Ser)
| |
| 8 | g.76983856dup | CA179988272 | PEX2 | c.325dup (p.Cys109LeufsTer14)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983855A>C | CA461773346 | PEX2 | c.324T>G (p.Val108=)
| |
| 8 | g.76983855A>G | CA461773347 | PEX2 | c.324T>C (p.Val108=)
| COSMIC |
| 8 | g.76983855A>T | CA461773348 | PEX2 | c.324T>A (p.Val108=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983856A= | CA1795351656 | PEX2 | c.323T= (p.Val108=)
| |
| 8 | g.76983856A>C | CA371557594 | PEX2 | c.323T>G (p.Val108Gly)
| dbSNP |
| 8 | g.76983856A>G | CA371557595 | PEX2 | c.323T>C (p.Val108Ala)
| |
| 8 | g.76983856A>T | CA371557596 | PEX2 | c.323T>A (p.Val108Asp)
| |
| 8 | g.76983857C>A | CA371557597 | PEX2 | c.322G>T (p.Val108Phe)
| |
| 8 | g.76983857C= | CA1795351657 | PEX2 | c.322G= (p.Val108=)
| |
| 8 | g.76983857C>G | CA4788734 | PEX2 | c.322G>C (p.Val108Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983857C>T | CA371557598 | PEX2 | c.322G>A (p.Val108Ile)
| dbSNP |
| 8 | g.76983858A= | CA1795351658 | PEX2 | c.321T= (p.Ala107=)
| |
| 8 | g.76983858A>C | CA461773352 | PEX2 | c.321T>G (p.Ala107=)
| |
| 8 | g.76983858A>G | CA4788735 | PEX2 | c.321T>C (p.Ala107=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983858A>T | CA461773353 | PEX2 | c.321T>A (p.Ala107=)
| |
| 8 | g.76983859G>A | CA371557601 | PEX2 | c.320C>T (p.Ala107Val)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983859G>C | CA371557599 | PEX2 | c.320C>G (p.Ala107Gly)
| |
| 8 | g.76983859G>T | CA371557600 | PEX2 | c.320C>A (p.Ala107Asp)
| ClinVar |
| 8 | g.76983860C>A | CA371557602 | PEX2 | c.319G>T (p.Ala107Ser)
| |
| 8 | g.76983860C= | CA1795351659 | PEX2 | c.319G= (p.Ala107=)
| |
| 8 | g.76983860C>G | CA371557603 | PEX2 | c.319G>C (p.Ala107Pro)
| |
| 8 | g.76983860C>T | CA371557604 | PEX2 | c.319G>A (p.Ala107Thr)
| dbSNP |
| 8 | g.76983861A>C | CA371557605 | PEX2 | c.318T>G (p.Tyr106Ter)
| |
| 8 | g.76983861A>G | CA461773357 | PEX2 | c.318T>C (p.Tyr106=)
| |
| 8 | g.76983861A>T | CA371557606 | PEX2 | c.318T>A (p.Tyr106Ter)
| ClinVar |
| 8 | g.76983862T>A | CA371557607 | PEX2 | c.317A>T (p.Tyr106Phe)
| |
| 8 | g.76983862T>C | CA371557608 | PEX2 | c.317A>G (p.Tyr106Cys)
| gnomAD v4 |
| 8 | g.76983862T>G | CA371557609 | PEX2 | c.317A>C (p.Tyr106Ser)
| |
| 8 | g.76983863A>C | CA371557610 | PEX2 | c.316T>G (p.Tyr106Asp)
| gnomAD v4 |
| 8 | g.76983863A>G | CA371557611 | PEX2 | c.316T>C (p.Tyr106His)
| gnomAD v4 |
| 8 | g.76983863A>T | CA371557612 | PEX2 | c.316T>A (p.Tyr106Asn)
| |
| 8 | g.76983864C>A | CA371557615 | PEX2 | c.315G>T (p.Trp105Cys)
| |
| 8 | g.76983864C>G | CA371557613 | PEX2 | c.315G>C (p.Trp105Cys)
| gnomAD v4 |
| 8 | g.76983864C>T | CA371557614 | PEX2 | c.315G>A (p.Trp105Ter)
| |
| 8 | g.76983865C>A | CA371557616 | PEX2 | c.314G>T (p.Trp105Leu)
| |
| 8 | g.76983865C= | CA1795351660 | PEX2 | c.314G= (p.Trp105=)
| |
| 8 | g.76983865C>G | CA371557617 | PEX2 | c.314G>C (p.Trp105Ser)
| COSMIC |
| 8 | g.76983865C>T | CA179988274 | PEX2 | c.314G>A (p.Trp105Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983866A>C | CA371557618 | PEX2 | c.313T>G (p.Trp105Gly)
| |
| 8 | g.76983866A>G | CA371557619 | PEX2 | c.313T>C (p.Trp105Arg)
| COSMIC |
| 8 | g.76983866A>T | CA371557620 | PEX2 | c.313T>A (p.Trp105Arg)
| |
| 8 | g.76983867G>A | CA461773360 | PEX2 | c.312C>T (p.Ile104=)
| gnomAD v4 COSMIC |
| 8 | g.76983867G>C | CA371557621 | PEX2 | c.312C>G (p.Ile104Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983867G= | CA1795351661 | PEX2 | c.312C= (p.Ile104=)
| |
| 8 | g.76983867G>T | CA461773362 | PEX2 | c.312C>A (p.Ile104=)
| ClinVar dbSNP gnomAD v4 COSMIC |
