| 8 | g.76983305G>A | CA371556376 | PEX2 | c.874C>T (p.Pro292Ser)
| |
| 8 | g.76983305G>C | CA371556377 | PEX2 | c.874C>G (p.Pro292Ala)
| |
| 8 | g.76983305G>T | CA371556378 | PEX2 | c.874C>A (p.Pro292Thr)
| |
| 8 | g.76983306C>A | CA371556379 | PEX2 | c.873G>T (p.Gln291His)
| |
| 8 | g.76983306C>G | CA371556380 | PEX2 | c.873G>C (p.Gln291His)
| |
| 8 | g.76983306C>T | CA461773117 | PEX2 | c.873G>A (p.Gln291=)
| gnomAD v4 |
| 8 | g.76983307T>A | CA371556381 | PEX2 | c.872A>T (p.Gln291Leu)
| |
| 8 | g.76983307T>C | CA371556383 | PEX2 | c.872A>G (p.Gln291Arg)
| gnomAD v4 |
| 8 | g.76983307T>G | CA371556382 | PEX2 | c.872A>C (p.Gln291Pro)
| |
| 8 | g.76983308G>A | CA371556384 | PEX2 | c.871C>T (p.Gln291Ter)
| |
| 8 | g.76983308G>C | CA371556385 | PEX2 | c.871C>G (p.Gln291Glu)
| |
| 8 | g.76983308G>T | CA371556386 | PEX2 | c.871C>A (p.Gln291Lys)
| |
| 8 | g.76983309C>A | CA461773118 | PEX2 | c.870G>T (p.Leu290=)
| |
| 8 | g.76983309C= | CA1795350743 | PEX2 | c.870G= (p.Leu290=)
| |
| 8 | g.76983309C>G | CA4788638 | PEX2 | c.870G>C (p.Leu290=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983309C>T | CA461773119 | PEX2 | c.870G>A (p.Leu290=)
| |
| 8 | g.76983310A= | CA1795350746 | PEX2 | c.869T= (p.Leu290=)
| |
| 8 | g.76983310A>C | CA4788639 | PEX2 | c.869T>G (p.Leu290Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983310A>G | CA371556387 | PEX2 | c.869T>C (p.Leu290Pro)
| |
| 8 | g.76983310A>T | CA371556388 | PEX2 | c.869T>A (p.Leu290Gln)
| |
| 8 | g.76983311G>A | CA461773120 | PEX2 | c.868C>T (p.Leu290=)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983311G>C | CA371556389 | PEX2 | c.868C>G (p.Leu290Val)
| |
| 8 | g.76983311G>T | CA371556390 | PEX2 | c.868C>A (p.Leu290Met)
| |
| 8 | g.76983312A>C | CA371556391 | PEX2 | c.867T>G (p.Ser289Arg)
| gnomAD v4 |
| 8 | g.76983312A>G | CA461773121 | PEX2 | c.867T>C (p.Ser289=)
| |
| 8 | g.76983312A>T | CA371556392 | PEX2 | c.867T>A (p.Ser289Arg)
| |
| 8 | g.76983312_76983313insT | CA2695209858 | PEX2 | c.866_867insA (p.Ser289ArgfsTer?)
| |
| 8 | g.76983313C>A | CA371556394 | PEX2 | c.866G>T (p.Ser289Ile)
| |
| 8 | g.76983313C= | CA1795350748 | PEX2 | c.866G= (p.Ser289=)
| |
| 8 | g.76983313C>G | CA371556395 | PEX2 | c.866G>C (p.Ser289Thr)
| |
| 8 | g.76983313C>T | CA371556393 | PEX2 | c.866G>A (p.Ser289Asn)
| ClinVar |
| 8 | g.76983314T>A | CA371556396 | PEX2 | c.865A>T (p.Ser289Cys)
| |
| 8 | g.76983314T>C | CA371556397 | PEX2 | c.865A>G (p.Ser289Gly)
| ClinVar dbSNP |
| 8 | g.76983314T>G | CA371556398 | PEX2 | c.865A>C (p.Ser289Arg)
| |
| 8 | g.76983314T= | CA1795350757 | PEX2 | c.865A= (p.Ser289=)
| |
| 8 | g.76983314dup | CA175083 | PEX2 | c.865dup (p.Ser289LysfsTer?)
| ClinVar dbSNP gnomAD v2 |
| 8 | g.76983315G>A | CA461773122 | PEX2 | c.864C>T (p.His288=)
| ClinVar gnomAD v4 |
| 8 | g.76983315G>C | CA4788640 | PEX2 | c.864C>G (p.His288Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983315G= | CA1795350764 | PEX2 | c.864C= (p.His288=)
| |
| 8 | g.76983315G>T | CA371556399 | PEX2 | c.864C>A (p.His288Gln)
| |
| 8 | g.76983316T>A | CA371556402 | PEX2 | c.863A>T (p.His288Leu)
| |
| 8 | g.76983316T>C | CA371556401 | PEX2 | c.863A>G (p.His288Arg)
| dbSNP |
| 8 | g.76983316T>G | CA371556400 | PEX2 | c.863A>C (p.His288Pro)
| gnomAD v4 |
| 8 | g.76983316T= | CA1795350772 | PEX2 | c.863A= (p.His288=)
| |
| 8 | g.76983317G>A | CA179988253 | PEX2 | c.862C>T (p.His288Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983317G>C | CA371556403 | PEX2 | c.862C>G (p.His288Asp)
| |
| 8 | g.76983317G= | CA1795350775 | PEX2 | c.862C= (p.His288=)
| |
| 8 | g.76983317G>T | CA371556404 | PEX2 | c.862C>A (p.His288Asn)
| |
| 8 | g.76983318T>A | CA461773123 | PEX2 | c.861A>T (p.Val287=)
| |
| 8 | g.76983318T>C | CA461773124 | PEX2 | c.861A>G (p.Val287=)
| gnomAD v4 |
| 8 | g.76983318T>G | CA461773125 | PEX2 | c.861A>C (p.Val287=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.76983318T= | CA1795350778 | PEX2 | c.861A= (p.Val287=)
| |
| 8 | g.76983319_76983322del | CA913141891 | PEX2 | c.858_861del (p.Glu286AspfsTer7)
| |
| 8 | g.76983319A>C | CA371556405 | PEX2 | c.860T>G (p.Val287Gly)
| |
| 8 | g.76983319A>G | CA371556406 | PEX2 | c.860T>C (p.Val287Ala)
| |
| 8 | g.76983319A>T | CA371556407 | PEX2 | c.860T>A (p.Val287Glu)
| |
| 8 | g.76983319_76983322delinsACTT | CA1795350781 | PEX2 | c.857_860delinsAAGT (p.Glu286=)
| |
| 8 | g.76983320C>A | CA371556408 | PEX2 | c.859G>T (p.Val287Leu)
| |
| 8 | g.76983320C= | CA1795350789 | PEX2 | c.859G= (p.Val287=)
| |
| 8 | g.76983320C>G | CA371556410 | PEX2 | c.859G>C (p.Val287Leu)
| |
| 8 | g.76983320C>T | CA371556409 | PEX2 | c.859G>A (p.Val287Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983322_76983324del | CA658821642 | PEX2 | c.857_859del (p.Glu286del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983321T>A | CA371556411 | PEX2 | c.858A>T (p.Glu286Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983321T>C | CA461773126 | PEX2 | c.858A>G (p.Glu286=)
| ClinVar |
| 8 | g.76983321T>G | CA371556412 | PEX2 | c.858A>C (p.Glu286Asp)
| |
| 8 | g.76983321T= | CA1795350793 | PEX2 | c.858A= (p.Glu286=)
| |
| 8 | g.76983322T>A | CA371556413 | PEX2 | c.857A>T (p.Glu286Val)
| |
| 8 | g.76983322T>C | CA371556414 | PEX2 | c.857A>G (p.Glu286Gly)
| |
| 8 | g.76983322T>G | CA371556415 | PEX2 | c.857A>C (p.Glu286Ala)
| |
| 8 | g.76983323C>A | CA371556416 | PEX2 | c.856G>T (p.Glu286Ter)
| |
| 8 | g.76983323C>G | CA371556417 | PEX2 | c.856G>C (p.Glu286Gln)
| |
| 8 | g.76983323C>T | CA371556418 | PEX2 | c.856G>A (p.Glu286Lys)
| |
| 8 | g.76983324T>A | CA461773127 | PEX2 | c.855A>T (p.Thr285=)
| |
| 8 | g.76983324T>C | CA461773128 | PEX2 | c.855A>G (p.Thr285=)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983324T>G | CA461773129 | PEX2 | c.855A>C (p.Thr285=)
| |
| 8 | g.76983324T= | CA1795350795 | PEX2 | c.855A= (p.Thr285=)
| |
| 8 | g.76983325G>A | CA371556419 | PEX2 | c.854C>T (p.Thr285Ile)
| |
| 8 | g.76983325G>C | CA371556420 | PEX2 | c.854C>G (p.Thr285Arg)
| ClinVar |
| 8 | g.76983325G>T | CA371556421 | PEX2 | c.854C>A (p.Thr285Lys)
| |
| 8 | g.76983326T>A | CA371556424 | PEX2 | c.853A>T (p.Thr285Ser)
| |
| 8 | g.76983326T>C | CA371556423 | PEX2 | c.853A>G (p.Thr285Ala)
| |
| 8 | g.76983326T>G | CA371556422 | PEX2 | c.853A>C (p.Thr285Pro)
| |
| 8 | g.76983327G>A | CA461773130 | PEX2 | c.852C>T (p.Gly284=)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983327G>C | CA461773131 | PEX2 | c.852C>G (p.Gly284=)
| |
| 8 | g.76983327G>T | CA461773132 | PEX2 | c.852C>A (p.Gly284=)
| |
| 8 | g.76983328C>A | CA371556425 | PEX2 | c.851G>T (p.Gly284Val)
| |
| 8 | g.76983328C>G | CA371556426 | PEX2 | c.851G>C (p.Gly284Ala)
| |
| 8 | g.76983328C>T | CA371556427 | PEX2 | c.851G>A (p.Gly284Asp)
| COSMIC |
| 8 | g.76983329C>A | CA371556428 | PEX2 | c.850G>T (p.Gly284Cys)
| |
| 8 | g.76983329C>G | CA371556429 | PEX2 | c.850G>C (p.Gly284Arg)
| |
| 8 | g.76983329C>T | CA371556430 | PEX2 | c.850G>A (p.Gly284Ser)
| gnomAD v4 |
| 8 | g.76983329_76983330delinsCA | CA1795350799 | PEX2 | c.849_850delinsTG (p.Cys283=)
| |
| 8 | g.76983330del | CA4788641 | PEX2 | c.849del (p.Cys283TrpfsTer11)
| dbSNP ExAC gnomAD v2 |
| 8 | g.76983330A>C | CA371556431 | PEX2 | c.849T>G (p.Cys283Trp)
| |
| 8 | g.76983330A>G | CA461773133 | PEX2 | c.849T>C (p.Cys283=)
| |
| 8 | g.76983330A>T | CA371556432 | PEX2 | c.849T>A (p.Cys283Ter)
| |
| 8 | g.76983331C>A | CA371556433 | PEX2 | c.848G>T (p.Cys283Phe)
| |
| 8 | g.76983331C>G | CA371556434 | PEX2 | c.848G>C (p.Cys283Ser)
| |
| 8 | g.76983331C>T | CA371556435 | PEX2 | c.848G>A (p.Cys283Tyr)
| |
| 8 | g.76983332A= | CA1795350805 | PEX2 | c.847T= (p.Cys283=)
| |
| 8 | g.76983332A>C | CA179988254 | PEX2 | c.847T>G (p.Cys283Gly)
| dbSNP |
| 8 | g.76983332A>G | CA371556437 | PEX2 | c.847T>C (p.Cys283Arg)
| dbSNP |
| 8 | g.76983332A>T | CA371556436 | PEX2 | c.847T>A (p.Cys283Ser)
| |
| 8 | g.76983333C>A | CA371556438 | PEX2 | c.846G>T (p.Lys282Asn)
| |
| 8 | g.76983333C= | CA1795350808 | PEX2 | c.846G= (p.Lys282=)
| |
| 8 | g.76983333C>G | CA371556439 | PEX2 | c.846G>C (p.Lys282Asn)
| |
| 8 | g.76983333C>T | CA461773134 | PEX2 | c.846G>A (p.Lys282=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983334T>A | CA371556440 | PEX2 | c.845A>T (p.Lys282Met)
| |
| 8 | g.76983334T>C | CA371556441 | PEX2 | c.845A>G (p.Lys282Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983334T>G | CA371556442 | PEX2 | c.845A>C (p.Lys282Thr)
| |
| 8 | g.76983334T= | CA1795350812 | PEX2 | c.845A= (p.Lys282=)
| |
| 8 | g.76983335T>A | CA371556445 | PEX2 | c.844A>T (p.Lys282Ter)
| |
| 8 | g.76983335T>C | CA371556443 | PEX2 | c.844A>G (p.Lys282Glu)
| dbSNP gnomAD v2 |
| 8 | g.76983335T>G | CA371556444 | PEX2 | c.844A>C (p.Lys282Gln)
| dbSNP gnomAD v4 |
| 8 | g.76983335T= | CA1795350815 | PEX2 | c.844A= (p.Lys282=)
| |
| 8 | g.76983336A= | CA1795350819 | PEX2 | c.843T= (p.Pro281=)
| |
| 8 | g.76983336A>C | CA461773135 | PEX2 | c.843T>G (p.Pro281=)
| |
| 8 | g.76983336A>G | CA461773136 | PEX2 | c.843T>C (p.Pro281=)
| ClinVar dbSNP |
| 8 | g.76983336A>T | CA461773137 | PEX2 | c.843T>A (p.Pro281=)
| |
| 8 | g.76983337G>A | CA4788642 | PEX2 | c.842C>T (p.Pro281Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983337G>C | CA371556446 | PEX2 | c.842C>G (p.Pro281Arg)
| |
| 8 | g.76983337G= | CA1795350821 | PEX2 | c.842C= (p.Pro281=)
| |
| 8 | g.76983337G>T | CA371556447 | PEX2 | c.842C>A (p.Pro281His)
| |
| 8 | g.76983337_76983344del | CA2687718855 | PEX2 | c.835_842del (p.Thr279Ter)
| gnomAD v4 |
| 8 | g.76983338G>A | CA371556448 | PEX2 | c.841C>T (p.Pro281Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983338G>C | CA371556449 | PEX2 | c.841C>G (p.Pro281Ala)
| |
| 8 | g.76983338G= | CA1795350823 | PEX2 | c.841C= (p.Pro281=)
| |
| 8 | g.76983338G>T | CA371556450 | PEX2 | c.841C>A (p.Pro281Thr)
| |
| 8 | g.76983339A>C | CA371556451 | PEX2 | c.840T>G (p.Cys280Trp)
| |
| 8 | g.76983339A>G | CA461773138 | PEX2 | c.840T>C (p.Cys280=)
| |
| 8 | g.76983339A>T | CA371556452 | PEX2 | c.840T>A (p.Cys280Ter)
| |
| 8 | g.76983340C>A | CA4788643 | PEX2 | c.839G>T (p.Cys280Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983340C= | CA1795350827 | PEX2 | c.839G= (p.Cys280=)
| |
| 8 | g.76983340C>G | CA371556454 | PEX2 | c.839G>C (p.Cys280Ser)
| |
| 8 | g.76983340C>T | CA371556453 | PEX2 | c.839G>A (p.Cys280Tyr)
| |
| 8 | g.76983340_76983345delinsCAAGTA | CA1795350826 | PEX2 | c.834_839delinsTACTTG (p.Phe278=)
| |
| 8 | g.76983341A>C | CA371556455 | PEX2 | c.838T>G (p.Cys280Gly)
| |
| 8 | g.76983341A>G | CA371556456 | PEX2 | c.838T>C (p.Cys280Arg)
| |
| 8 | g.76983341A>T | CA371556457 | PEX2 | c.838T>A (p.Cys280Ser)
| |
| 8 | g.76983346_76983350del | CA16041186 | PEX2 | c.834_838del (p.Phe278LeufsTer3)
| ClinVar dbSNP |
| 8 | g.76983342A>C | CA461773139 | PEX2 | c.837T>G (p.Thr279=)
| |
| 8 | g.76983342A>G | CA461773141 | PEX2 | c.837T>C (p.Thr279=)
| |
| 8 | g.76983342A>T | CA461773140 | PEX2 | c.837T>A (p.Thr279=)
| |
| 8 | g.76983343G>A | CA371556458 | PEX2 | c.836C>T (p.Thr279Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983343G>C | CA371556459 | PEX2 | c.836C>G (p.Thr279Ser)
| |
| 8 | g.76983343G= | CA1795350832 | PEX2 | c.836C= (p.Thr279=)
| |
| 8 | g.76983343G>T | CA371556460 | PEX2 | c.836C>A (p.Thr279Asn)
| |
| 8 | g.76983344T>A | CA371556461 | PEX2 | c.835A>T (p.Thr279Ser)
| |
| 8 | g.76983344T>C | CA371556462 | PEX2 | c.835A>G (p.Thr279Ala)
| |
| 8 | g.76983344T>G | CA371556463 | PEX2 | c.835A>C (p.Thr279Pro)
| |
| 8 | g.76983345A= | CA1795350835 | PEX2 | c.834T= (p.Phe278=)
| |
| 8 | g.76983345A>C | CA371556464 | PEX2 | c.834T>G (p.Phe278Leu)
| |
| 8 | g.76983345A>G | CA4788644 | PEX2 | c.834T>C (p.Phe278=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983345A>T | CA371556465 | PEX2 | c.834T>A (p.Phe278Leu)
| |
| 8 | g.76983346A>C | CA371556468 | PEX2 | c.833T>G (p.Phe278Cys)
| |
| 8 | g.76983346A>G | CA371556467 | PEX2 | c.833T>C (p.Phe278Ser)
| |
| 8 | g.76983346A>T | CA371556466 | PEX2 | c.833T>A (p.Phe278Tyr)
| |
| 8 | g.76983347_76983350dup | CA918294494 | PEX2 | c.830_833dup (p.Phe278LeufsTer6)
| dbSNP |
| 8 | g.76983347A>C | CA371556469 | PEX2 | c.832T>G (p.Phe278Val)
| |
| 8 | g.76983347A>G | CA371556470 | PEX2 | c.832T>C (p.Phe278Leu)
| |
| 8 | g.76983347A>T | CA371556471 | PEX2 | c.832T>A (p.Phe278Ile)
| |
| 8 | g.76983348G>A | CA461773142 | PEX2 | c.831C>T (p.Tyr277=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983348G>C | CA371556472 | PEX2 | c.831C>G (p.Tyr277Ter)
| |
| 8 | g.76983348G= | CA1795350838 | PEX2 | c.831C= (p.Tyr277=)
| |
| 8 | g.76983348G>T | CA371556473 | PEX2 | c.831C>A (p.Tyr277Ter)
| |
| 8 | g.76983348delinsTAAGAAAC | CA2695201487 | PEX2 | c.831delinsGTTTCTTA (p.Tyr277Ter)
| ClinVar |
| 8 | g.76983349T>A | CA371556474 | PEX2 | c.830A>T (p.Tyr277Phe)
| |
| 8 | g.76983349T>C | CA371556475 | PEX2 | c.830A>G (p.Tyr277Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983349T>G | CA371556476 | PEX2 | c.830A>C (p.Tyr277Ser)
| gnomAD v4 |
| 8 | g.76983349T= | CA1795350840 | PEX2 | c.830A= (p.Tyr277=)
| |
| 8 | g.76983350A>C | CA371556477 | PEX2 | c.829T>G (p.Tyr277Asp)
| gnomAD v4 |
| 8 | g.76983350A>G | CA371556478 | PEX2 | c.829T>C (p.Tyr277His)
| |
| 8 | g.76983350A>T | CA371556479 | PEX2 | c.829T>A (p.Tyr277Asn)
| |
| 8 | g.76983351C>A | CA461773143 | PEX2 | c.828G>T (p.Val276=)
| |
| 8 | g.76983351C>G | CA461773144 | PEX2 | c.828G>C (p.Val276=)
| |
| 8 | g.76983351C>T | CA461773145 | PEX2 | c.828G>A (p.Val276=)
| ClinVar |
| 8 | g.76983352A= | CA1795350842 | PEX2 | c.827T= (p.Val276=)
| |
| 8 | g.76983352A>C | CA371556482 | PEX2 | c.827T>G (p.Val276Gly)
| |
| 8 | g.76983352A>G | CA371556481 | PEX2 | c.827T>C (p.Val276Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983352A>T | CA371556480 | PEX2 | c.827T>A (p.Val276Glu)
| |
| 8 | g.76983353C>A | CA371556483 | PEX2 | c.826G>T (p.Val276Leu)
| |
| 8 | g.76983353C= | CA1795350848 | PEX2 | c.826G= (p.Val276=)
| |
| 8 | g.76983353C>G | CA4788645 | PEX2 | c.826G>C (p.Val276Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983353C>T | CA4788646 | PEX2 | c.826G>A (p.Val276Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983354G>A | CA4788647 | PEX2 | c.825C>T (p.Asp275=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.76983354G>C | CA371556484 | PEX2 | c.825C>G (p.Asp275Glu)
| |
| 8 | g.76983354G= | CA1795350850 | PEX2 | c.825C= (p.Asp275=)
| |
| 8 | g.76983354G>T | CA371556485 | PEX2 | c.825C>A (p.Asp275Glu)
| |
| 8 | g.76983355T>A | CA371556488 | PEX2 | c.824A>T (p.Asp275Val)
| |
| 8 | g.76983355T>C | CA371556486 | PEX2 | c.824A>G (p.Asp275Gly)
| |
| 8 | g.76983355T>G | CA371556487 | PEX2 | c.824A>C (p.Asp275Ala)
| |
| 8 | g.76983356C>A | CA371556489 | PEX2 | c.823G>T (p.Asp275Tyr)
| |
| 8 | g.76983356C= | CA1795350853 | PEX2 | c.823G= (p.Asp275=)
| |
| 8 | g.76983356C>G | CA371556490 | PEX2 | c.823G>C (p.Asp275His)
| dbSNP gnomAD v4 |
| 8 | g.76983356C>T | CA371556491 | PEX2 | c.823G>A (p.Asp275Asn)
| gnomAD v4 |
| 8 | g.76983357A>C | CA371556492 | PEX2 | c.822T>G (p.Phe274Leu)
| |
| 8 | g.76983357A>G | CA461773146 | PEX2 | c.822T>C (p.Phe274=)
| |
| 8 | g.76983357A>T | CA371556493 | PEX2 | c.822T>A (p.Phe274Leu)
| |
| 8 | g.76983358A>C | CA371556494 | PEX2 | c.821T>G (p.Phe274Cys)
| |
| 8 | g.76983358A>G | CA371556496 | PEX2 | c.821T>C (p.Phe274Ser)
| |
| 8 | g.76983358A>T | CA371556495 | PEX2 | c.821T>A (p.Phe274Tyr)
| |
| 8 | g.76983359A= | CA1795350855 | PEX2 | c.820T= (p.Phe274=)
| |
| 8 | g.76983359A>C | CA371556497 | PEX2 | c.820T>G (p.Phe274Val)
| |
| 8 | g.76983359A>G | CA371556498 | PEX2 | c.820T>C (p.Phe274Leu)
| dbSNP gnomAD v4 |
| 8 | g.76983359A>T | CA371556499 | PEX2 | c.820T>A (p.Phe274Ile)
| |
| 8 | g.76983360T>A | CA371556500 | PEX2 | c.819A>T (p.Leu273Phe)
| |
| 8 | g.76983360T>C | CA461773147 | PEX2 | c.819A>G (p.Leu273=)
| |
| 8 | g.76983360T>G | CA371556501 | PEX2 | c.819A>C (p.Leu273Phe)
| |
| 8 | g.76983360_76983363delinsTAAG | CA1795350857 | PEX2 | c.816_819delinsCTTA (p.Phe272=)
| |
| 8 | g.76983361A>C | CA371556502 | PEX2 | c.818T>G (p.Leu273Ter)
| |
| 8 | g.76983361A>G | CA371556503 | PEX2 | c.818T>C (p.Leu273Ser)
| |
| 8 | g.76983361A>T | CA371556504 | PEX2 | c.818T>A (p.Leu273Ter)
| |
| 8 | g.76983363_76983365del | CA4788648 | PEX2 | c.816_818del (p.Phe272del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983362A>C | CA371556505 | PEX2 | c.817T>G (p.Leu273Val)
| |
| 8 | g.76983362A>G | CA461773148 | PEX2 | c.817T>C (p.Leu273=)
| |
| 8 | g.76983362A>T | CA371556506 | PEX2 | c.817T>A (p.Leu273Ile)
| |
| 8 | g.76983363G>A | CA461773149 | PEX2 | c.816C>T (p.Phe272=)
| |
| 8 | g.76983363G>C | CA371556507 | PEX2 | c.816C>G (p.Phe272Leu)
| gnomAD v4 |
| 8 | g.76983363G>T | CA371556508 | PEX2 | c.816C>A (p.Phe272Leu)
| |
| 8 | g.76983364A>C | CA371556509 | PEX2 | c.815T>G (p.Phe272Cys)
| |
| 8 | g.76983364A>G | CA371556510 | PEX2 | c.815T>C (p.Phe272Ser)
| |
| 8 | g.76983364A>T | CA371556511 | PEX2 | c.815T>A (p.Phe272Tyr)
| gnomAD v4 |
| 8 | g.76983365A>C | CA371556512 | PEX2 | c.814T>G (p.Phe272Val)
| |
| 8 | g.76983365A>G | CA371556513 | PEX2 | c.814T>C (p.Phe272Leu)
| |
| 8 | g.76983365A>T | CA371556514 | PEX2 | c.814T>A (p.Phe272Ile)
| |
| 8 | g.76983366A>C | CA371556515 | PEX2 | c.813T>G (p.Ser271Arg)
| |
| 8 | g.76983366A>G | CA461773150 | PEX2 | c.813T>C (p.Ser271=)
| |
| 8 | g.76983366A>T | CA371556516 | PEX2 | c.813T>A (p.Ser271Arg)
| |
| 8 | g.76983367C>A | CA371556517 | PEX2 | c.812G>T (p.Ser271Ile)
| |
| 8 | g.76983367C= | CA1795350860 | PEX2 | c.812G= (p.Ser271=)
| |
| 8 | g.76983367C>G | CA371556518 | PEX2 | c.812G>C (p.Ser271Thr)
| |
| 8 | g.76983367C>T | CA371556519 | PEX2 | c.812G>A (p.Ser271Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983368T>A | CA371556520 | PEX2 | c.811A>T (p.Ser271Cys)
| |
| 8 | g.76983368T>C | CA4788649 | PEX2 | c.811A>G (p.Ser271Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983368T>G | CA371556521 | PEX2 | c.811A>C (p.Ser271Arg)
| |
| 8 | g.76983368T= | CA1795350862 | PEX2 | c.811A= (p.Ser271=)
| |
| 8 | g.76983369A>C | CA371556523 | PEX2 | c.810T>G (p.Ser270Arg)
| |
| 8 | g.76983369A>G | CA461773151 | PEX2 | c.810T>C (p.Ser270=)
| |
| 8 | g.76983369A>T | CA371556522 | PEX2 | c.810T>A (p.Ser270Arg)
| |
| 8 | g.76983370C>A | CA371556524 | PEX2 | c.809G>T (p.Ser270Ile)
| |
| 8 | g.76983370C= | CA1795350864 | PEX2 | c.809G= (p.Ser270=)
| |
| 8 | g.76983370C>G | CA4788650 | PEX2 | c.809G>C (p.Ser270Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983370C>T | CA371556525 | PEX2 | c.809G>A (p.Ser270Asn)
| |
| 8 | g.76983371T>A | CA371556526 | PEX2 | c.808A>T (p.Ser270Cys)
| |
| 8 | g.76983371T>C | CA371556527 | PEX2 | c.808A>G (p.Ser270Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983371T>G | CA371556528 | PEX2 | c.808A>C (p.Ser270Arg)
| |
| 8 | g.76983371T= | CA1795350866 | PEX2 | c.808A= (p.Ser270=)
| |
| 8 | g.76983371_76983372insA | CA2695201488 | PEX2 | c.807_808insT (p.Ser270Ter)
| ClinVar |
| 8 | g.76983372C>A | CA371556530 | PEX2 | c.807G>T (p.Lys269Asn)
| |
| 8 | g.76983372C>G | CA371556529 | PEX2 | c.807G>C (p.Lys269Asn)
| |
| 8 | g.76983372C>T | CA461773152 | PEX2 | c.807G>A (p.Lys269=)
| |
| 8 | g.76983373T>A | CA371556531 | PEX2 | c.806A>T (p.Lys269Met)
| |
| 8 | g.76983373T>C | CA371556532 | PEX2 | c.806A>G (p.Lys269Arg)
| |
| 8 | g.76983373T>G | CA371556533 | PEX2 | c.806A>C (p.Lys269Thr)
| |
| 8 | g.76983374T>A | CA371556534 | PEX2 | c.805A>T (p.Lys269Ter)
| |
| 8 | g.76983374T>C | CA371556535 | PEX2 | c.805A>G (p.Lys269Glu)
| |
| 8 | g.76983374T>G | CA4788651 | PEX2 | c.805A>C (p.Lys269Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983374T= | CA1795350868 | PEX2 | c.805A= (p.Lys269=)
| |
| 8 | g.76983375A>C | CA461773153 | PEX2 | c.804T>G (p.Ala268=)
| |
| 8 | g.76983375A>G | CA461773154 | PEX2 | c.804T>C (p.Ala268=)
| COSMIC |
| 8 | g.76983375A>T | CA461773155 | PEX2 | c.804T>A (p.Ala268=)
| |
| 8 | g.76983376G>A | CA371556536 | PEX2 | c.803C>T (p.Ala268Val)
| |
| 8 | g.76983376G>C | CA371556538 | PEX2 | c.803C>G (p.Ala268Gly)
| |
| 8 | g.76983376G>T | CA371556537 | PEX2 | c.803C>A (p.Ala268Asp)
| |
| 8 | g.76983377C>A | CA371556539 | PEX2 | c.802G>T (p.Ala268Ser)
| |
| 8 | g.76983377C= | CA1795350870 | PEX2 | c.802G= (p.Ala268=)
| |
| 8 | g.76983377C>G | CA371556540 | PEX2 | c.802G>C (p.Ala268Pro)
| dbSNP |
| 8 | g.76983377C>T | CA371556541 | PEX2 | c.802G>A (p.Ala268Thr)
| |
| 8 | g.76983378A>C | CA371556542 | PEX2 | c.801T>G (p.Cys267Trp)
| |
| 8 | g.76983378A>G | CA461773156 | PEX2 | c.801T>C (p.Cys267=)
| |
| 8 | g.76983378A>T | CA371556543 | PEX2 | c.801T>A (p.Cys267Ter)
| |
| 8 | g.76983379C>A | CA371556544 | PEX2 | c.800G>T (p.Cys267Phe)
| |
| 8 | g.76983379C>G | CA371556545 | PEX2 | c.800G>C (p.Cys267Ser)
| |
| 8 | g.76983379C>T | CA371556546 | PEX2 | c.800G>A (p.Cys267Tyr)
| |
| 8 | g.76983380A= | CA1795350872 | PEX2 | c.799T= (p.Cys267=)
| |
| 8 | g.76983380A>C | CA371556547 | PEX2 | c.799T>G (p.Cys267Gly)
| dbSNP |
| 8 | g.76983380A>G | CA371556548 | PEX2 | c.799T>C (p.Cys267Arg)
| |
| 8 | g.76983380A>T | CA371556549 | PEX2 | c.799T>A (p.Cys267Ser)
| |
| 8 | g.76983381G>A | CA4788652 | PEX2 | c.798C>T (p.Phe266=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983381G>C | CA371556551 | PEX2 | c.798C>G (p.Phe266Leu)
| gnomAD v4 |
| 8 | g.76983381G= | CA1795350874 | PEX2 | c.798C= (p.Phe266=)
| |
| 8 | g.76983381G>T | CA371556550 | PEX2 | c.798C>A (p.Phe266Leu)
| |
| 8 | g.76983382A>C | CA371556552 | PEX2 | c.797T>G (p.Phe266Cys)
| |
| 8 | g.76983382A>G | CA371556553 | PEX2 | c.797T>C (p.Phe266Ser)
| |
| 8 | g.76983382A>T | CA371556554 | PEX2 | c.797T>A (p.Phe266Tyr)
| |
| 8 | g.76983383_76983387del | CA2573143375 | PEX2 | c.793_797del (p.Tyr265LeufsTer3)
| ClinVar dbSNP |
| 8 | g.76983383A>C | CA371556555 | PEX2 | c.796T>G (p.Phe266Val)
| |
| 8 | g.76983383A>G | CA371556556 | PEX2 | c.796T>C (p.Phe266Leu)
| |
| 8 | g.76983383A>T | CA371556557 | PEX2 | c.796T>A (p.Phe266Ile)
| |
| 8 | g.76983383_76983388delinsAATAAC | CA1795350876 | PEX2 | c.791_796delinsGTTATT (p.Cys264=)
| |
| 8 | g.76983384A= | CA1795350880 | PEX2 | c.795T= (p.Tyr265=)
| |
| 8 | g.76983384A>C | CA371556558 | PEX2 | c.795T>G (p.Tyr265Ter)
| |
| 8 | g.76983384A>G | CA4788653 | PEX2 | c.795T>C (p.Tyr265=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983384A>T | CA371556559 | PEX2 | c.795T>A (p.Tyr265Ter)
| gnomAD v4 |
| 8 | g.76983385_76983389del | CA855436104 | PEX2 | c.791_795del (p.Cys264PhefsTer4)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983385T>A | CA371556560 | PEX2 | c.794A>T (p.Tyr265Phe)
| gnomAD v4 |
| 8 | g.76983385T>C | CA371556561 | PEX2 | c.794A>G (p.Tyr265Cys)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983385T>G | CA371556562 | PEX2 | c.794A>C (p.Tyr265Ser)
| |
| 8 | g.76983386A>C | CA371556565 | PEX2 | c.793T>G (p.Tyr265Asp)
| |
| 8 | g.76983386A>G | CA371556564 | PEX2 | c.793T>C (p.Tyr265His)
| |
| 8 | g.76983386A>T | CA371556563 | PEX2 | c.793T>A (p.Tyr265Asn)
| |
| 8 | g.76983387A>C | CA371556566 | PEX2 | c.792T>G (p.Cys264Trp)
| |
| 8 | g.76983387A>G | CA461773157 | PEX2 | c.792T>C (p.Cys264=)
| |
| 8 | g.76983387A>T | CA371556567 | PEX2 | c.792T>A (p.Cys264Ter)
| |
| 8 | g.76983388C>A | CA371556568 | PEX2 | c.791G>T (p.Cys264Phe)
| gnomAD v4 |
| 8 | g.76983388C>G | CA371556570 | PEX2 | c.791G>C (p.Cys264Ser)
| gnomAD v4 |
| 8 | g.76983388C>T | CA371556569 | PEX2 | c.791G>A (p.Cys264Tyr)
| |
| 8 | g.76983388_76983390delinsCAG | CA1795350884 | PEX2 | c.789_791delinsCTG (p.Phe263=)
| |
| 8 | g.76983389A>C | CA371556571 | PEX2 | c.790T>G (p.Cys264Gly)
| |
| 8 | g.76983389A>G | CA371556573 | PEX2 | c.790T>C (p.Cys264Arg)
| |
| 8 | g.76983389A>T | CA371556572 | PEX2 | c.790T>A (p.Cys264Ser)
| |
| 8 | g.76983390_76983391del | CA1115556724 | PEX2 | c.789_790del (p.Phe263LeufsTer6)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983390G>A | CA461773158 | PEX2 | c.789C>T (p.Phe263=)
| |
| 8 | g.76983390G>C | CA371556574 | PEX2 | c.789C>G (p.Phe263Leu)
| |
| 8 | g.76983390G= | CA1795350887 | PEX2 | c.789C= (p.Phe263=)
| |
| 8 | g.76983390G>T | CA371556575 | PEX2 | c.789C>A (p.Phe263Leu)
| dbSNP |
| 8 | g.76983391A>C | CA371556576 | PEX2 | c.788T>G (p.Phe263Cys)
| |
| 8 | g.76983391A>G | CA371556578 | PEX2 | c.788T>C (p.Phe263Ser)
| |
| 8 | g.76983391A>T | CA371556577 | PEX2 | c.788T>A (p.Phe263Tyr)
| |
| 8 | g.76983392A>C | CA371556579 | PEX2 | c.787T>G (p.Phe263Val)
| |
| 8 | g.76983392A>G | CA371556580 | PEX2 | c.787T>C (p.Phe263Leu)
| |
| 8 | g.76983392A>T | CA371556581 | PEX2 | c.787T>A (p.Phe263Ile)
| |
| 8 | g.76983393A= | CA1795350889 | PEX2 | c.786T= (p.Ile262=)
| |
| 8 | g.76983393A>C | CA371556582 | PEX2 | c.786T>G (p.Ile262Met)
| dbSNP |
| 8 | g.76983393A>G | CA461773159 | PEX2 | c.786T>C (p.Ile262=)
| gnomAD v4 |
| 8 | g.76983393A>T | CA461773160 | PEX2 | c.786T>A (p.Ile262=)
| |
| 8 | g.76983394A>C | CA371556583 | PEX2 | c.785T>G (p.Ile262Ser)
| |
| 8 | g.76983394A>G | CA371556584 | PEX2 | c.785T>C (p.Ile262Thr)
| |
| 8 | g.76983394A>T | CA371556585 | PEX2 | c.785T>A (p.Ile262Asn)
| |
| 8 | g.76983395T>A | CA371556586 | PEX2 | c.784A>T (p.Ile262Phe)
| |
| 8 | g.76983395T>C | CA371556587 | PEX2 | c.784A>G (p.Ile262Val)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.76983395T>G | CA371556588 | PEX2 | c.784A>C (p.Ile262Leu)
| |
| 8 | g.76983395T= | CA1795350891 | PEX2 | c.784A= (p.Ile262=)
| |
| 8 | g.76983396A= | CA1795350893 | PEX2 | c.783T= (p.His261=)
| |
| 8 | g.76983396A>C | CA371556589 | PEX2 | c.783T>G (p.His261Gln)
| |
| 8 | g.76983396A>G | CA461773161 | PEX2 | c.783T>C (p.His261=)
| ClinVar dbSNP |
| 8 | g.76983396A>T | CA371556590 | PEX2 | c.783T>A (p.His261Gln)
| |
| 8 | g.76983397T>A | CA371556592 | PEX2 | c.782A>T (p.His261Leu)
| |
| 8 | g.76983397T>C | CA4788654 | PEX2 | c.782A>G (p.His261Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983397T>G | CA371556591 | PEX2 | c.782A>C (p.His261Pro)
| |
| 8 | g.76983397T= | CA1795350897 | PEX2 | c.782A= (p.His261=)
| |
| 8 | g.76983398G>A | CA371556593 | PEX2 | c.781C>T (p.His261Tyr)
| COSMIC |
| 8 | g.76983398G>C | CA371556594 | PEX2 | c.781C>G (p.His261Asp)
| gnomAD v4 |
| 8 | g.76983398G>T | CA371556595 | PEX2 | c.781C>A (p.His261Asn)
| |
| 8 | g.76983399C>A | CA371556596 | PEX2 | c.780G>T (p.Glu260Asp)
| |
| 8 | g.76983399C>G | CA371556597 | PEX2 | c.780G>C (p.Glu260Asp)
| |
| 8 | g.76983399C>T | CA461773162 | PEX2 | c.780G>A (p.Glu260=)
| gnomAD v4 |
| 8 | g.76983400T>A | CA371556598 | PEX2 | c.779A>T (p.Glu260Val)
| |
| 8 | g.76983400T>C | CA371556599 | PEX2 | c.779A>G (p.Glu260Gly)
| |
| 8 | g.76983400T>G | CA371556600 | PEX2 | c.779A>C (p.Glu260Ala)
| |
| 8 | g.76983401C>A | CA371556601 | PEX2 | c.778G>T (p.Glu260Ter)
| |
| 8 | g.76983401C>G | CA371556602 | PEX2 | c.778G>C (p.Glu260Gln)
| |
| 8 | g.76983401C>T | CA371556603 | PEX2 | c.778G>A (p.Glu260Lys)
| COSMIC |
| 8 | g.76983402A>C | CA371556604 | PEX2 | c.777T>G (p.Cys259Trp)
| |
| 8 | g.76983402A>G | CA461773163 | PEX2 | c.777T>C (p.Cys259=)
| |
| 8 | g.76983402A>T | CA371556605 | PEX2 | c.777T>A (p.Cys259Ter)
| |
| 8 | g.76983403C>A | CA371556607 | PEX2 | c.776G>T (p.Cys259Phe)
| |
| 8 | g.76983403C>G | CA371556608 | PEX2 | c.776G>C (p.Cys259Ser)
| |
| 8 | g.76983403C>T | CA371556606 | PEX2 | c.776G>A (p.Cys259Tyr)
| |
| 8 | g.76983404A>C | CA371556609 | PEX2 | c.775T>G (p.Cys259Gly)
| |
| 8 | g.76983404A>G | CA371556610 | PEX2 | c.775T>C (p.Cys259Arg)
| gnomAD v4 |
| 8 | g.76983404A>T | CA371556611 | PEX2 | c.775T>A (p.Cys259Ser)
| |
| 8 | g.76983405del | CA2687718856 | PEX2 | c.774del (p.Cys259ValfsTer?)
| gnomAD v4 |
| 8 | g.76983405T>A | CA461773166 | PEX2 | c.774A>T (p.Gly258=)
| |
| 8 | g.76983405T>C | CA461773164 | PEX2 | c.774A>G (p.Gly258=)
| |
| 8 | g.76983405T>G | CA461773165 | PEX2 | c.774A>C (p.Gly258=)
| |
