UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.76983337_76983344del | CA2687718855 | PEX2 | c.835_842del (p.Thr279Ter) | gnomAD v4 |
| 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=) | |
| 8 | g.76983406C>A | CA371556612 | PEX2 | c.773G>T (p.Gly258Val) | |
| 8 | g.76983406C= | CA1795350901 | PEX2 | c.773G= (p.Gly258=) | |
| 8 | g.76983406C>G | CA371556613 | PEX2 | c.773G>C (p.Gly258Ala) | ClinVar dbSNP |
| 8 | g.76983406C>T | CA371556614 | PEX2 | c.773G>A (p.Gly258Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983407C>A | CA371556615 | PEX2 | c.772G>T (p.Gly258Ter) | gnomAD v4 COSMIC |
| 8 | g.76983407C= | CA1795350904 | PEX2 | c.772G= (p.Gly258=) | |
| 8 | g.76983407C>G | CA371556616 | PEX2 | c.772G>C (p.Gly258Arg) | |
| 8 | g.76983407C>T | CA371556617 | PEX2 | c.772G>A (p.Gly258Arg) | dbSNP |
| 8 | g.76983408T>A | CA461773167 | PEX2 | c.771A>T (p.Ile257=) | ClinVar dbSNP |
| 8 | g.76983408T>C | CA371556618 | PEX2 | c.771A>G (p.Ile257Met) | |
| 8 | g.76983408T>G | CA461773168 | PEX2 | c.771A>C (p.Ile257=) | |
| 8 | g.76983408T= | CA1795350908 | PEX2 | c.771A= (p.Ile257=) | |
| 8 | g.76983409_76983410dup | CA4788655 | PEX2 | c.770_771dup (p.Gly258Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983409A>C | CA371556621 | PEX2 | c.770T>G (p.Ile257Arg) | |
| 8 | g.76983409A>G | CA371556620 | PEX2 | c.770T>C (p.Ile257Thr) | gnomAD v4 |
| 8 | g.76983409A>T | CA371556619 | PEX2 | c.770T>A (p.Ile257Lys) | |
| 8 | g.76983410del | CA2687718857 | PEX2 | c.769del (p.Ile257Ter) | gnomAD v4 |
| 8 | g.76983410T>A | CA371556622 | PEX2 | c.769A>T (p.Ile257Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983410T>C | CA4788656 | PEX2 | c.769A>G (p.Ile257Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983410T>G | CA371556623 | PEX2 | c.769A>C (p.Ile257Leu) | |
| 8 | g.76983410T= | CA1795350911 | PEX2 | c.769A= (p.Ile257=) | |
| 8 | g.76983411G>A | CA461773169 | PEX2 | c.768C>T (p.Thr256=) | ClinVar dbSNP COSMIC |
| 8 | g.76983411G>C | CA461773170 | PEX2 | c.768C>G (p.Thr256=) | |
| 8 | g.76983411G= | CA1795350915 | PEX2 | c.768C= (p.Thr256=) | |
| 8 | g.76983411G>T | CA461773171 | PEX2 | c.768C>A (p.Thr256=) | |
| 8 | g.76983412G>A | CA371556624 | PEX2 | c.767C>T (p.Thr256Ile) | dbSNP |
| 8 | g.76983412G>C | CA371556625 | PEX2 | c.767C>G (p.Thr256Ser) | |
| 8 | g.76983412G= | CA1795350917 | PEX2 | c.767C= (p.Thr256=) | |
| 8 | g.76983412G>T | CA371556626 | PEX2 | c.767C>A (p.Thr256Asn) | |
| 8 | g.76983413T>A | CA371556627 | PEX2 | c.766A>T (p.Thr256Ser) | |
| 8 | g.76983413T>C | CA371556628 | PEX2 | c.766A>G (p.Thr256Ala) | ClinVar dbSNP |
| 8 | g.76983413T>G | CA371556629 | PEX2 | c.766A>C (p.Thr256Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983413T= | CA1795350919 | PEX2 | c.766A= (p.Thr256=) | |
| 8 | g.76983414G>A | CA461773172 | PEX2 | c.765C>T (p.His255=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.76983414G>C | CA371556630 | PEX2 | c.765C>G (p.His255Gln) | |
| 8 | g.76983414G>T | CA371556631 | PEX2 | c.765C>A (p.His255Gln) | |
| 8 | g.76983415T>A | CA371556634 | PEX2 | c.764A>T (p.His255Leu) | |
| 8 | g.76983415T>C | CA371556633 | PEX2 | c.764A>G (p.His255Arg) | |
| 8 | g.76983415T>G | CA371556632 | PEX2 | c.764A>C (p.His255Pro) | |
| 8 | g.76983416G>A | CA371556635 | PEX2 | c.763C>T (p.His255Tyr) | |
| 8 | g.76983416G>C | CA371556637 | PEX2 | c.763C>G (p.His255Asp) | |
| 8 | g.76983416G>T | CA371556636 | PEX2 | c.763C>A (p.His255Asn) | |
| 8 | g.76983417A>C | CA461773173 | PEX2 | c.762T>G (p.Pro254=) | |
| 8 | g.76983417A>G | CA461773175 | PEX2 | c.762T>C (p.Pro254=) | gnomAD v4 |
| 8 | g.76983417A>T | CA461773174 | PEX2 | c.762T>A (p.Pro254=) | |
| 8 | g.76983418G>A | CA371556638 | PEX2 | c.761C>T (p.Pro254Leu) | |
| 8 | g.76983418G>C | CA371556639 | PEX2 | c.761C>G (p.Pro254Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983418G= | CA1795350921 | PEX2 | c.761C= (p.Pro254=) | |
| 8 | g.76983418G>T | CA371556640 | PEX2 | c.761C>A (p.Pro254His) | |
| 8 | g.76983419G>A | CA4788657 | PEX2 | c.760C>T (p.Pro254Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983419G>C | CA371556641 | PEX2 | c.760C>G (p.Pro254Ala) | |
| 8 | g.76983419G= | CA1795350924 | PEX2 | c.760C= (p.Pro254=) | |
| 8 | g.76983419G>T | CA371556642 | PEX2 | c.760C>A (p.Pro254Thr) | |
| 8 | g.76983420C>A | CA371556643 | PEX2 | c.759G>T (p.Met253Ile) | |
| 8 | g.76983420C>G | CA371556644 | PEX2 | c.759G>C (p.Met253Ile) | |
| 8 | g.76983420C>T | CA371556645 | PEX2 | c.759G>A (p.Met253Ile) | |
| 8 | g.76983421A>C | CA371556646 | PEX2 | c.758T>G (p.Met253Arg) | |
| 8 | g.76983421A>G | CA371556647 | PEX2 | c.758T>C (p.Met253Thr) | |
| 8 | g.76983421A>T | CA371556648 | PEX2 | c.758T>A (p.Met253Lys) | |
| 8 | g.76983422T>A | CA371556649 | PEX2 | c.757A>T (p.Met253Leu) | |
| 8 | g.76983422T>C | CA371556651 | PEX2 | c.757A>G (p.Met253Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983422T>G | CA371556650 | PEX2 | c.757A>C (p.Met253Leu) | |
| 8 | g.76983422T= | CA1795350926 | PEX2 | c.757A= (p.Met253=) | |
| 8 | g.76983423G>A | CA461773176 | PEX2 | c.756C>T (p.Thr252=) | ClinVar |
| 8 | g.76983423G>C | CA461773177 | PEX2 | c.756C>G (p.Thr252=) | |
| 8 | g.76983423G>T | CA461773178 | PEX2 | c.756C>A (p.Thr252=) | |
| 8 | g.76983424G>A | CA371556652 | PEX2 | c.755C>T (p.Thr252Ile) | |
| 8 | g.76983424G>C | CA371556653 | PEX2 | c.755C>G (p.Thr252Ser) | |
| 8 | g.76983424G>T | CA371556654 | PEX2 | c.755C>A (p.Thr252Asn) | |
| 8 | g.76983425T>A | CA371556655 | PEX2 | c.754A>T (p.Thr252Ser) | |
| 8 | g.76983425T>C | CA371556656 | PEX2 | c.754A>G (p.Thr252Ala) | gnomAD v4 |
| 8 | g.76983425T>G | CA371556657 | PEX2 | c.754A>C (p.Thr252Pro) | |
| 8 | g.76983426G>A | CA461773180 | PEX2 | c.753C>T (p.Pro251=) | |
| 8 | g.76983426G>C | CA461773181 | PEX2 | c.753C>G (p.Pro251=) | gnomAD v4 |
| 8 | g.76983426G>T | CA461773179 | PEX2 | c.753C>A (p.Pro251=) | |
| 8 | g.76983427G>A | CA4788658 | PEX2 | c.752C>T (p.Pro251Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983427G>C | CA371556658 | PEX2 | c.752C>G (p.Pro251Arg) | ClinVar |
| 8 | g.76983427G= | CA1795350928 | PEX2 | c.752C= (p.Pro251=) | |
| 8 | g.76983427G>T | CA371556659 | PEX2 | c.752C>A (p.Pro251His) | |
| 8 | g.76983428G>A | CA371556661 | PEX2 | c.751C>T (p.Pro251Ser) | gnomAD v4 |
| 8 | g.76983428G>C | CA371556662 | PEX2 | c.751C>G (p.Pro251Ala) | |
| 8 | g.76983428G>T | CA371556660 | PEX2 | c.751C>A (p.Pro251Thr) | |
| 8 | g.76983429C>A | CA371556663 | PEX2 | c.750G>T (p.Trp250Cys) | |
| 8 | g.76983429C>G | CA371556664 | PEX2 | c.750G>C (p.Trp250Cys) | |
| 8 | g.76983429C>T | CA371556665 | PEX2 | c.750G>A (p.Trp250Ter) | |
| 8 | g.76983430C>A | CA371556666 | PEX2 | c.749G>T (p.Trp250Leu) | |
| 8 | g.76983430C>G | CA371556667 | PEX2 | c.749G>C (p.Trp250Ser) | |
| 8 | g.76983430C>T | CA371556668 | PEX2 | c.749G>A (p.Trp250Ter) | |
| 8 | g.76983431A= | CA1795350932 | PEX2 | c.748T= (p.Trp250=) | |
| 8 | g.76983431A>C | CA371556669 | PEX2 | c.748T>G (p.Trp250Gly) | ClinVar dbSNP |
| 8 | g.76983431A>G | CA154235 | PEX2 | c.748T>C (p.Trp250Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983431A>T | CA371556670 | PEX2 | c.748T>A (p.Trp250Arg) | |
| 8 | g.76983432C>A | CA371556671 | PEX2 | c.747G>T (p.Glu249Asp) | |
| 8 | g.76983432C>G | CA371556672 | PEX2 | c.747G>C (p.Glu249Asp) | |
| 8 | g.76983432C>T | CA461773182 | PEX2 | c.747G>A (p.Glu249=) | gnomAD v4 COSMIC |
| 8 | g.76983433T>A | CA371556674 | PEX2 | c.746A>T (p.Glu249Val) | |
| 8 | g.76983433T>C | CA4788659 | PEX2 | c.746A>G (p.Glu249Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983433T>G | CA371556673 | PEX2 | c.746A>C (p.Glu249Ala) | |
| 8 | g.76983433T= | CA1795350936 | PEX2 | c.746A= (p.Glu249=) | |
| 8 | g.76983434C>A | CA371556675 | PEX2 | c.745G>T (p.Glu249Ter) | |
| 8 | g.76983434C>G | CA371556676 | PEX2 | c.745G>C (p.Glu249Gln) | dbSNP |
| 8 | g.76983434C>T | CA371556677 | PEX2 | c.745G>A (p.Glu249Lys) | |
| 8 | g.76983435T>A | CA461773183 | PEX2 | c.744A>T (p.Gly248=) | gnomAD v4 |
| 8 | g.76983435T>C | CA461773184 | PEX2 | c.744A>G (p.Gly248=) | |
| 8 | g.76983435T>G | CA461773185 | PEX2 | c.744A>C (p.Gly248=) | |
| 8 | g.76983436C>A | CA371556678 | PEX2 | c.743G>T (p.Gly248Val) | |
| 8 | g.76983436C>G | CA371556679 | PEX2 | c.743G>C (p.Gly248Ala) | |
| 8 | g.76983436C>T | CA371556680 | PEX2 | c.743G>A (p.Gly248Glu) | gnomAD v4 |
| 8 | g.76983437C>A | CA371556681 | PEX2 | c.742G>T (p.Gly248Ter) | COSMIC |
| 8 | g.76983437C= | CA1795350940 | PEX2 | c.742G= (p.Gly248=) | |
| 8 | g.76983437C>G | CA371556683 | PEX2 | c.742G>C (p.Gly248Arg) | |
| 8 | g.76983437C>T | CA371556682 | PEX2 | c.742G>A (p.Gly248Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983438A>C | CA371556684 | PEX2 | c.741T>G (p.Cys247Trp) | |
| 8 | g.76983438A>G | CA461773186 | PEX2 | c.741T>C (p.Cys247=) | |
| 8 | g.76983438A>T | CA371556685 | PEX2 | c.741T>A (p.Cys247Ter) | |
| 8 | g.76983439C>A | CA371556686 | PEX2 | c.740G>T (p.Cys247Phe) | COSMIC |
| 8 | g.76983439C= | CA1795350943 | PEX2 | c.740G= (p.Cys247=) | |
| 8 | g.76983439C>G | CA371556687 | PEX2 | c.740G>C (p.Cys247Ser) | |
| 8 | g.76983439C>T | CA10588463 | PEX2 | c.740G>A (p.Cys247Tyr) | ClinVar dbSNP |
| 8 | g.76983439_76983441delinsCAT | CA1795350946 | PEX2 | c.738_740delinsATG (p.Leu246=) | |
| 8 | g.76983440A= | CA1795350950 | PEX2 | c.739T= (p.Cys247=) | |
| 8 | g.76983440A>C | CA371556689 | PEX2 | c.739T>G (p.Cys247Gly) | |
| 8 | g.76983440A>G | CA163284 | PEX2 | c.739T>C (p.Cys247Arg) | ClinVar dbSNP |
| 8 | g.76983440A>T | CA371556688 | PEX2 | c.739T>A (p.Cys247Ser) | |
| 8 | g.76983441_76983442del | CA583367326 | PEX2 | c.738_739del (p.Cys247TrpfsTer13) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983441T>A | CA461773187 | PEX2 | c.738A>T (p.Leu246=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.76983441T>C | CA4788660 | PEX2 | c.738A>G (p.Leu246=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983441T>G | CA461773188 | PEX2 | c.738A>C (p.Leu246=) | dbSNP gnomAD v4 |
| 8 | g.76983441T= | CA1795350955 | PEX2 | c.738A= (p.Leu246=) |