ClinVar Miner

List of variants studied for Peroxisome biogenesis disorder, complementation group 7 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 673
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_002617.4(PEX10):c.913-4G>A rs11586985 0.08566
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_002617.4(PEX10):c.843G>A (p.Arg281=) rs35082957 0.00846
NM_002617.4(PEX10):c.685G>C (p.Val229Leu) rs139345520 0.00686
NM_002617.4(PEX10):c.318G>A (p.Leu106=) rs146452560 0.00649
NM_002617.4(PEX10):c.332T>C (p.Leu111Pro) rs35426403 0.00554
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_002617.4(PEX10):c.621C>G (p.Pro207=) rs140107510 0.00350
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_002617.4(PEX10):c.495C>T (p.Phe165=) rs150344828 0.00145
NM_002617.4(PEX10):c.601-27A>G rs144264865 0.00103
NM_002617.4(PEX10):c.896C>T (p.Ala299Val) rs78620392 0.00058
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg) rs76530653 0.00045
NM_002617.4(PEX10):c.627G>A (p.Glu209=) rs141430704 0.00043
NM_002617.4(PEX10):c.816G>T (p.Leu272=) rs144440263 0.00040
NM_002617.4(PEX10):c.765G>A (p.Leu255=) rs140133667 0.00035
NM_002617.4(PEX10):c.812C>T (p.Pro271Leu) rs142088776 0.00034
NM_002617.4(PEX10):c.316C>T (p.Leu106=) rs140340426 0.00029
NM_002617.4(PEX10):c.622G>A (p.Gly208Arg) rs138489241 0.00025
NM_002617.4(PEX10):c.116C>T (p.Ala39Val) rs149421567 0.00024
NM_002617.4(PEX10):c.611G>A (p.Arg204His) rs199934621 0.00022
NM_002617.4(PEX10):c.776+8C>T rs370594705 0.00021
NM_002617.4(PEX10):c.894C>T (p.Thr298=) rs138406081 0.00019
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523 0.00018
NM_002617.4(PEX10):c.424C>T (p.Arg142Trp) rs372914003 0.00016
NM_002617.4(PEX10):c.275G>A (p.Arg92His) rs375649043 0.00014
NM_002617.4(PEX10):c.423G>A (p.Ala141=) rs138171306 0.00014
NM_002617.4(PEX10):c.425G>A (p.Arg142Gln) rs138843050 0.00014
NM_002617.4(PEX10):c.967C>T (p.Arg323Trp) rs148903253 0.00014
NM_002617.4(PEX10):c.268C>T (p.Leu90=) rs775772867 0.00011
NM_002617.4(PEX10):c.361C>A (p.Pro121Thr) rs1056200158 0.00011
NM_002617.4(PEX10):c.583C>T (p.Leu195Phe) rs116354317 0.00011
NM_002617.4(PEX10):c.776+20A>G rs769793734 0.00011
NM_002617.4(PEX10):c.915G>A (p.Ala305=) rs374891812 0.00011
NM_002617.4(PEX10):c.485G>A (p.Arg162Gln) rs756297578 0.00010
NM_002617.4(PEX10):c.895G>A (p.Ala299Thr) rs371030713 0.00010
NM_002617.4(PEX10):c.220G>A (p.Val74Ile) rs768438726 0.00009
NM_002617.4(PEX10):c.427C>T (p.Arg143Cys) rs199667764 0.00009
NM_002617.4(PEX10):c.641G>A (p.Arg214His) rs368143757 0.00009
NM_002617.4(PEX10):c.760G>A (p.Gly254Ser) rs761942658 0.00009
NM_002617.4(PEX10):c.576C>G (p.Ala192=) rs376805362 0.00008
NM_002617.4(PEX10):c.704dup (p.Leu236fs) rs61750435 0.00008
NM_002617.4(PEX10):c.78G>A (p.Arg26=) rs987035031 0.00008
NM_002617.4(PEX10):c.36C>T (p.Ile12=) rs952907703 0.00007
NM_002617.4(PEX10):c.527G>A (p.Arg176Gln) rs184150138 0.00007
NM_002617.4(PEX10):c.194-19C>T rs199777923 0.00006
NM_002617.4(PEX10):c.267G>A (p.Ser89=) rs746952615 0.00006
NM_002617.4(PEX10):c.555C>T (p.His185=) rs75377471 0.00006
NM_002617.4(PEX10):c.605G>A (p.Arg202His) rs371979619 0.00006
NM_002617.4(PEX10):c.725G>A (p.Arg242Gln) rs142257121 0.00006
NM_002617.4(PEX10):c.752T>C (p.Leu251Pro) rs780507609 0.00006
NM_002617.4(PEX10):c.771C>T (p.His257=) rs776503441 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_002617.4(PEX10):c.821C>T (p.Thr274Ile) rs199683357 0.00006
NM_002617.4(PEX10):c.839G>A (p.Arg280His) rs758678654 0.00006
NM_002617.4(PEX10):c.912+17C>T rs757219158 0.00006
NM_002617.4(PEX10):c.428G>A (p.Arg143His) rs766596553 0.00005
NM_002617.4(PEX10):c.51G>A (p.Lys17=) rs777938524 0.00005
NM_002617.4(PEX10):c.547T>G (p.Tyr183Asp) rs780485807 0.00005
NM_002617.4(PEX10):c.601-16G>A rs554294948 0.00005
NM_002617.4(PEX10):c.640C>T (p.Arg214Cys) rs536486149 0.00005
NM_002617.4(PEX10):c.711C>T (p.Tyr237=) rs761005209 0.00005
NM_002617.4(PEX10):c.960C>G (p.Ile320Met) rs371260973 0.00005
NM_002617.4(PEX10):c.144G>A (p.Glu48=) rs141263967 0.00004
NM_002617.4(PEX10):c.193+14C>A rs768652461 0.00004
NM_002617.4(PEX10):c.193+15G>A rs745845751 0.00004
NM_002617.4(PEX10):c.247C>T (p.Arg83Trp) rs377135853 0.00004
NM_002617.4(PEX10):c.271C>T (p.Arg91Cys) rs747921371 0.00004
NM_002617.4(PEX10):c.407G>A (p.Arg136His) rs745469808 0.00004
NM_002617.4(PEX10):c.601-55G>A rs751098874 0.00004
NM_002617.4(PEX10):c.601-7C>T rs772097260 0.00004
NM_002617.4(PEX10):c.773G>A (p.Arg258His) rs773147980 0.00004
NM_002617.4(PEX10):c.776+5G>A rs747776170 0.00004
NM_002617.4(PEX10):c.959T>C (p.Ile320Thr) rs769097644 0.00004
NM_002617.4(PEX10):c.111G>T (p.Ala37=) rs1227962505 0.00003
NM_002617.4(PEX10):c.280G>A (p.Val94Met) rs142626035 0.00003
NM_002617.4(PEX10):c.363C>T (p.Pro121=) rs543982780 0.00003
NM_002617.4(PEX10):c.435G>A (p.Met145Ile) rs368273118 0.00003
NM_002617.4(PEX10):c.446C>T (p.Thr149Met) rs764948458 0.00003
NM_002617.4(PEX10):c.477G>A (p.Ala159=) rs755353408 0.00003
NM_002617.4(PEX10):c.588G>A (p.Thr196=) rs766103610 0.00003
NM_002617.4(PEX10):c.601-75G>A rs369211467 0.00003
NM_002617.4(PEX10):c.652_657dup (p.Arg218_Leu219dup) rs1432526114 0.00003
NM_002617.4(PEX10):c.724C>T (p.Arg242Trp) rs745818681 0.00003
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter) rs61752092 0.00003
NM_002617.4(PEX10):c.758G>A (p.Arg253His) rs750769868 0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln) rs724160001 0.00003
NM_002617.4(PEX10):c.113-1G>A rs867305222 0.00002
NM_002617.4(PEX10):c.193+8C>T rs371502874 0.00002
NM_002617.4(PEX10):c.194-10T>C rs770764603 0.00002
NM_002617.4(PEX10):c.1A>G (p.Met1Val) rs886041314 0.00002
NM_002617.4(PEX10):c.219C>T (p.Tyr73=) rs531987102 0.00002
NM_002617.4(PEX10):c.296A>G (p.His99Arg) rs764465144 0.00002
NM_002617.4(PEX10):c.364G>A (p.Asp122Asn) rs375855913 0.00002
NM_002617.4(PEX10):c.447G>A (p.Thr149=) rs759220912 0.00002
NM_002617.4(PEX10):c.470G>A (p.Arg157Lys) rs772618705 0.00002
NM_002617.4(PEX10):c.484C>T (p.Arg162Trp) rs570706924 0.00002
NM_002617.4(PEX10):c.513C>T (p.Leu171=) rs772790675 0.00002
NM_002617.4(PEX10):c.556G>A (p.Gly186Ser) rs147848221 0.00002
NM_002617.4(PEX10):c.596C>T (p.Thr199Met) rs373559391 0.00002
NM_002617.4(PEX10):c.597G>A (p.Thr199=) rs750002192 0.00002
NM_002617.4(PEX10):c.600+14G>A rs763465246 0.00002
NM_002617.4(PEX10):c.600+1G>A rs267608183 0.00002
NM_002617.4(PEX10):c.766T>A (p.Ser256Thr) rs532149116 0.00002
NM_002617.4(PEX10):c.779C>A (p.Ala260Asp) rs747171383 0.00002
NM_002617.4(PEX10):c.782C>G (p.Ser261Cys) rs1208669638 0.00002
NM_002617.4(PEX10):c.857C>T (p.Thr286Met) rs774205482 0.00002
NM_002617.4(PEX10):c.865G>A (p.Gly289Ser) rs556603981 0.00002
NM_002617.4(PEX10):c.868C>G (p.His290Asp) rs61752094 0.00002
NM_002617.4(PEX10):c.912+18T>C rs778438020 0.00002
NM_002617.4(PEX10):c.112+11G>T rs1322541651 0.00001
NM_002617.4(PEX10):c.112+15C>A rs1028590508 0.00001
NM_002617.4(PEX10):c.112+16G>A rs755971878 0.00001
NM_002617.4(PEX10):c.114T>G (p.Gly38=) rs1365540789 0.00001
NM_002617.4(PEX10):c.120G>T (p.Arg40Ser) rs1363831554 0.00001
NM_002617.4(PEX10):c.123G>A (p.Lys41=) rs541080552 0.00001
NM_002617.4(PEX10):c.138G>A (p.Arg46=) rs752243854 0.00001
NM_002617.4(PEX10):c.151C>T (p.Leu51=) rs1643147523 0.00001
NM_002617.4(PEX10):c.159A>G (p.Ser53=) rs771349796 0.00001
NM_002617.4(PEX10):c.15C>T (p.Ala5=) rs965470939 0.00001
NM_002617.4(PEX10):c.168C>T (p.Ala56=) rs1343351949 0.00001
NM_002617.4(PEX10):c.180C>T (p.Leu60=) rs145668796 0.00001
NM_002617.4(PEX10):c.194-13C>T rs887880476 0.00001
NM_002617.4(PEX10):c.194-4G>A rs778931694 0.00001
NM_002617.4(PEX10):c.194-5C>T rs375032738 0.00001
NM_002617.4(PEX10):c.205C>T (p.Leu69=) rs1449501202 0.00001
NM_002617.4(PEX10):c.211G>T (p.Glu71Ter) rs1291325133 0.00001
NM_002617.4(PEX10):c.246G>A (p.Ser82=) rs370810788 0.00001
NM_002617.4(PEX10):c.248G>A (p.Arg83Gln) rs372894429 0.00001
NM_002617.4(PEX10):c.266C>T (p.Ser89Leu) rs769847524 0.00001
NM_002617.4(PEX10):c.272G>A (p.Arg91His) rs778774616 0.00001
NM_002617.4(PEX10):c.29A>C (p.Glu10Ala) rs1367685379 0.00001
NM_002617.4(PEX10):c.300C>T (p.Ala100=) rs759667036 0.00001
NM_002617.4(PEX10):c.307C>G (p.Pro103Ala) rs1299562078 0.00001
NM_002617.4(PEX10):c.333C>A (p.Leu111=) rs781710848 0.00001
NM_002617.4(PEX10):c.338T>C (p.Leu113Pro) rs757778155 0.00001
NM_002617.4(PEX10):c.344A>G (p.Gln115Arg) rs778031802 0.00001
NM_002617.4(PEX10):c.351G>A (p.Leu117=) rs758743429 0.00001
NM_002617.4(PEX10):c.371G>A (p.Gly124Glu) rs1169193497 0.00001
NM_002617.4(PEX10):c.372G>A (p.Gly124=) rs766506813 0.00001
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter) rs61750434 0.00001
NM_002617.4(PEX10):c.378C>G (p.Pro126=) rs762783424 0.00001
NM_002617.4(PEX10):c.390C>G (p.Ser130Arg) rs1425257705 0.00001
NM_002617.4(PEX10):c.417A>G (p.Ser139=) rs780687424 0.00001
NM_002617.4(PEX10):c.421G>A (p.Ala141Thr) rs747538698 0.00001
NM_002617.4(PEX10):c.422C>T (p.Ala141Val) rs778322648 0.00001
NM_002617.4(PEX10):c.436C>T (p.Arg146Cys) rs1184194956 0.00001
NM_002617.4(PEX10):c.437G>A (p.Arg146His) rs1471507257 0.00001
NM_002617.4(PEX10):c.438T>C (p.Arg146=) rs1323790624 0.00001
NM_002617.4(PEX10):c.43G>A (p.Ala15Thr) rs1438725093 0.00001
NM_002617.4(PEX10):c.449C>T (p.Ala150Val) rs776218721 0.00001
NM_002617.4(PEX10):c.488C>T (p.Ala163Val) rs750507518 0.00001
NM_002617.4(PEX10):c.496G>A (p.Val166Ile) rs368864383 0.00001
NM_002617.4(PEX10):c.498C>T (p.Val166=) rs759306542 0.00001
NM_002617.4(PEX10):c.528G>C (p.Arg176=) rs1321961893 0.00001
NM_002617.4(PEX10):c.538G>T (p.Ala180Ser) rs769189410 0.00001
NM_002617.4(PEX10):c.600+13C>T rs375803322 0.00001
NM_002617.4(PEX10):c.600+19G>A rs776004824 0.00001
NM_002617.4(PEX10):c.601-13A>G rs1443291426 0.00001
NM_002617.4(PEX10):c.601-18G>C rs149822209 0.00001
NM_002617.4(PEX10):c.601-30C>T rs776096476 0.00001
NM_002617.4(PEX10):c.601-33G>A rs1187656235 0.00001
NM_002617.4(PEX10):c.601-39C>T rs1469160710 0.00001
NM_002617.4(PEX10):c.601-3C>G rs369643163 0.00001
NM_002617.4(PEX10):c.601-52G>A rs763636557 0.00001
NM_002617.4(PEX10):c.601-56C>T rs761449217 0.00001
NM_002617.4(PEX10):c.601-63C>T rs1172587431 0.00001
NM_002617.4(PEX10):c.623G>A (p.Gly208Glu) rs753300436 0.00001
NM_002617.4(PEX10):c.636G>A (p.Arg212=) rs1236839010 0.00001
NM_002617.4(PEX10):c.663G>A (p.Gly221=) rs1292668207 0.00001
NM_002617.4(PEX10):c.668T>C (p.Ile223Thr) rs780850148 0.00001
NM_002617.4(PEX10):c.677T>C (p.Leu226Pro) rs746710198 0.00001
NM_002617.4(PEX10):c.690G>A (p.Leu230=) rs755446919 0.00001
NM_002617.4(PEX10):c.698G>A (p.Gly233Glu) rs372574195 0.00001
NM_002617.4(PEX10):c.718A>G (p.Arg240Gly) rs1424367364 0.00001
NM_002617.4(PEX10):c.719G>A (p.Arg240Lys) rs1419912761 0.00001
NM_002617.4(PEX10):c.751C>A (p.Leu251Met) rs1355235678 0.00001
NM_002617.4(PEX10):c.776+12G>T rs940264722 0.00001
NM_002617.4(PEX10):c.776+9G>A rs528387404 0.00001
NM_002617.4(PEX10):c.798C>T (p.Ala266=) rs746394182 0.00001
NM_002617.4(PEX10):c.823C>T (p.Leu275=) rs752928632 0.00001
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe) rs1414973726 0.00001
NM_002617.4(PEX10):c.834G>A (p.Glu278=) rs542788558 0.00001
NM_002617.4(PEX10):c.835G>A (p.Glu279Lys) rs62641225 0.00001
NM_002617.4(PEX10):c.838C>T (p.Arg280Cys) rs750424221 0.00001
NM_002617.4(PEX10):c.84G>A (p.Ala28=) rs1425799977 0.00001
NM_002617.4(PEX10):c.855C>A (p.Ala285=) rs1171635215 0.00001
NM_002617.4(PEX10):c.858G>A (p.Thr286=) rs374678390 0.00001
NM_002617.4(PEX10):c.861C>T (p.Pro287=) rs1417688558 0.00001
NM_002617.4(PEX10):c.864C>T (p.Cys288=) rs762621687 0.00001
NM_002617.4(PEX10):c.888C>T (p.Cys296=) rs1338124684 0.00001
NM_002617.4(PEX10):c.897G>A (p.Ala299=) rs372779905 0.00001
NM_002617.4(PEX10):c.8C>G (p.Pro3Arg) rs528381804 0.00001
NM_002617.4(PEX10):c.912+13C>G rs753953758 0.00001
NM_002617.4(PEX10):c.913-15T>C rs1553231615 0.00001
NM_002617.4(PEX10):c.913-16T>C rs374203579 0.00001
NM_002617.4(PEX10):c.913-17_913-16del rs764894972 0.00001
NM_002617.4(PEX10):c.913-2A>C rs758250423 0.00001
NM_002617.4(PEX10):c.913-3C>T rs777570617 0.00001
NM_002617.4(PEX10):c.913-5C>T rs756094275 0.00001
NM_002617.4(PEX10):c.918G>A (p.Glu306=) rs1316677222 0.00001
NM_002617.4(PEX10):c.919T>C (p.Cys307Arg) rs1418762869 0.00001
NM_002617.4(PEX10):c.922C>T (p.Pro308Ser) rs1402121158 0.00001
NM_002617.4(PEX10):c.924C>A (p.Pro308=) rs1375703281 0.00001
NM_002617.4(PEX10):c.931C>T (p.Arg311Trp) rs765965290 0.00001
NM_002617.4(PEX10):c.93C>G (p.Gly31=) rs1027184356 0.00001
NM_002617.4(PEX10):c.940T>C (p.Phe314Leu) rs148057567 0.00001
NM_002617.4(PEX10):c.963C>T (p.Tyr321=) rs780114946 0.00001
NM_002617.4(PEX10):c.977G>A (p.Arg326His) rs140890506 0.00001
NM_002617.4(PEX10):c.97C>T (p.Leu33=) rs994343573 0.00001
NM_002617.4(PEX10):c.980G>A (p.Ter327=) rs1432462972 0.00001
NC_000001.10:g.(?_1724664)_(2338414_?)dup
NC_000001.10:g.(?_2337195)_(2340307_?)del
NC_000001.10:g.(?_2337205)_(2338414_?)del
NC_000001.10:g.(?_2337205)_(2341910_?)del
NC_000001.10:g.(?_2337205)_(2343941_?)dup
NC_000001.10:g.(?_2339881)_(2340307_?)del
NC_000001.10:g.(?_2341800)_(2343951_?)del
NC_000001.10:g.(?_2343810)_(2343941_?)del
NC_000001.10:g.(?_861322)_(3768971_?)del
NC_000001.11:g.(?_2405746)_(2412522_?)del
NC_000001.11:g.(?_2405756)_(2412512_?)del
NM_002617.4(PEX10):c.102C>G (p.His34Gln)
NM_002617.4(PEX10):c.104G>C (p.Ser35Thr) rs2100441138
NM_002617.4(PEX10):c.105C>G (p.Ser35Arg) rs1339846247
NM_002617.4(PEX10):c.105C>T (p.Ser35=) rs1339846247
NM_002617.4(PEX10):c.107T>G (p.Leu36Arg)
NM_002617.4(PEX10):c.10G>A (p.Ala4Thr)
NM_002617.4(PEX10):c.110C>A (p.Ala37Glu) rs2100441107
NM_002617.4(PEX10):c.112+13C>T
NM_002617.4(PEX10):c.112+15C>T rs1028590508
NM_002617.4(PEX10):c.112+16G>T rs755971878
NM_002617.4(PEX10):c.112+9C>A rs1193998842
NM_002617.4(PEX10):c.112+9C>T rs1193998842
NM_002617.4(PEX10):c.113-11T>C
NM_002617.4(PEX10):c.113-14G>C
NM_002617.4(PEX10):c.113-18T>C
NM_002617.4(PEX10):c.113-19A>G
NM_002617.4(PEX10):c.113-19del
NM_002617.4(PEX10):c.113-1G>C
NM_002617.4(PEX10):c.113-4_113-3del rs2100434998
NM_002617.4(PEX10):c.113-5C>G rs2100435004
NM_002617.4(PEX10):c.113-7C>T rs750267481
NM_002617.4(PEX10):c.117G>A (p.Ala39=)
NM_002617.4(PEX10):c.120del (p.Lys41fs)
NM_002617.4(PEX10):c.122A>T (p.Lys41Met) rs112163061
NM_002617.4(PEX10):c.129G>A (p.Leu43=)
NM_002617.4(PEX10):c.12C>A (p.Ala4=)
NM_002617.4(PEX10):c.12C>G (p.Ala4=) rs1570124090
NM_002617.4(PEX10):c.12C>T (p.Ala4=)
NM_002617.4(PEX10):c.134G>A (p.Trp45Ter)
NM_002617.4(PEX10):c.148G>A (p.Glu50Lys)
NM_002617.4(PEX10):c.14C>T (p.Ala5Val)
NM_002617.4(PEX10):c.153G>C (p.Leu51=)
NM_002617.4(PEX10):c.157_158del (p.Ser53fs) rs1384671249
NM_002617.4(PEX10):c.160G>A (p.Asp54Asn) rs1289859085
NM_002617.4(PEX10):c.160G>C (p.Asp54His)
NM_002617.4(PEX10):c.163G>A (p.Val55Met)
NM_002617.4(PEX10):c.177C>A (p.Gly59=)
NM_002617.4(PEX10):c.177C>T (p.Gly59=)
NM_002617.4(PEX10):c.178C>A (p.Leu60Ile)
NM_002617.4(PEX10):c.178C>T (p.Leu60Phe) rs2100434691
NM_002617.4(PEX10):c.183C>A (p.Thr61=)
NM_002617.4(PEX10):c.18C>A (p.Ala6=)
NM_002617.4(PEX10):c.18C>G (p.Ala6=) rs1643277183
NM_002617.4(PEX10):c.18C>T (p.Ala6=)
NM_002617.4(PEX10):c.191C>G (p.Ala64Gly)
NM_002617.4(PEX10):c.193+12C>T
NM_002617.4(PEX10):c.193+14C>T rs768652461
NM_002617.4(PEX10):c.193+16G>A
NM_002617.4(PEX10):c.193+20C>A
NM_002617.4(PEX10):c.193+9del
NM_002617.4(PEX10):c.194-11C>A
NM_002617.4(PEX10):c.194-11C>T
NM_002617.4(PEX10):c.194-13C>G
NM_002617.4(PEX10):c.194-14C>T rs942084685
NM_002617.4(PEX10):c.194-15T>G
NM_002617.4(PEX10):c.194-17C>T
NM_002617.4(PEX10):c.194-4G>T rs778931694
NM_002617.4(PEX10):c.194-6T>C
NM_002617.4(PEX10):c.194-8C>A rs2100430284
NM_002617.4(PEX10):c.195C>T (p.Gly65=) rs2100430256
NM_002617.4(PEX10):c.198C>G (p.Tyr66Ter)
NM_002617.4(PEX10):c.1A>C (p.Met1Leu)
NM_002617.4(PEX10):c.1A>T (p.Met1Leu) rs886041314
NM_002617.4(PEX10):c.202A>T (p.Thr68Ser)
NM_002617.4(PEX10):c.204C>G (p.Thr68=)
NM_002617.4(PEX10):c.207G>C (p.Leu69=) rs1321969110
NM_002617.4(PEX10):c.207G>T (p.Leu69=)
NM_002617.4(PEX10):c.209G>T (p.Gly70Val) rs1643096230
NM_002617.4(PEX10):c.20G>A (p.Ser7Asn)
NM_002617.4(PEX10):c.211del (p.Glu71fs)
NM_002617.4(PEX10):c.213G>A (p.Glu71=)
NM_002617.4(PEX10):c.214G>A (p.Glu72Lys)
NM_002617.4(PEX10):c.216G>A (p.Glu72=) rs1643096018
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter) rs531987102
NM_002617.4(PEX10):c.21C>T (p.Ser7=) rs1296095268
NM_002617.4(PEX10):c.222C>T (p.Val74=) rs2100430140
NM_002617.4(PEX10):c.22C>A (p.Pro8Thr)
NM_002617.4(PEX10):c.22C>T (p.Pro8Ser)
NM_002617.4(PEX10):c.231C>T (p.Ile77=)
NM_002617.4(PEX10):c.235G>A (p.Val79Met)
NM_002617.4(PEX10):c.23C>A (p.Pro8His) rs2100441590
NM_002617.4(PEX10):c.246G>C (p.Ser82=) rs370810788
NM_002617.4(PEX10):c.247C>A (p.Arg83=) rs377135853
NM_002617.4(PEX10):c.247del (p.Arg83fs)
NM_002617.4(PEX10):c.24C>T (p.Pro8=)
NM_002617.4(PEX10):c.250A>G (p.Ile84Val)
NM_002617.4(PEX10):c.255T>C (p.His85=) rs2100429976
NM_002617.4(PEX10):c.261C>G (p.Pro87=) rs1400578496
NM_002617.4(PEX10):c.261C>T (p.Pro87=)
NM_002617.4(PEX10):c.263C>A (p.Ser88Tyr) rs913840649
NM_002617.4(PEX10):c.264C>T (p.Ser88=) rs2100429934
NM_002617.4(PEX10):c.266C>G (p.Ser89Trp) rs769847524
NM_002617.4(PEX10):c.26C>A (p.Pro9Gln)
NM_002617.4(PEX10):c.26del (p.Pro9fs) rs1553232917
NM_002617.4(PEX10):c.26dup (p.Glu10fs) rs1553232917
NM_002617.4(PEX10):c.270G>A (p.Leu90=)
NM_002617.4(PEX10):c.271C>A (p.Arg91Ser) rs747921371
NM_002617.4(PEX10):c.274C>G (p.Arg92Gly) rs1214996893
NM_002617.4(PEX10):c.274C>T (p.Arg92Cys) rs1214996893
NM_002617.4(PEX10):c.280G>C (p.Val94Leu) rs142626035
NM_002617.4(PEX10):c.28dup (p.Glu10fs) rs1643275394
NM_002617.4(PEX10):c.290_291inv (p.Thr97Met)
NM_002617.4(PEX10):c.291A>T (p.Thr97=) rs2494598
NM_002617.4(PEX10):c.291_292insTGCTGGTGACG (p.Leu98delinsCysTrpTer) rs1643093232
NM_002617.4(PEX10):c.295del (p.His99fs) rs1557910651
NM_002617.4(PEX10):c.297T>G (p.His99Gln)
NM_002617.4(PEX10):c.299_300delinsAT (p.Ala100Asp) rs2100429705
NM_002617.4(PEX10):c.29A>G (p.Glu10Gly) rs1367685379
NM_002617.4(PEX10):c.2T>C (p.Met1Thr) rs724160002
NM_002617.4(PEX10):c.301G>A (p.Val101Ile)
NM_002617.4(PEX10):c.304C>T (p.Leu102=) rs2100429673
NM_002617.4(PEX10):c.306G>A (p.Leu102=)
NM_002617.4(PEX10):c.306G>T (p.Leu102=) rs1381528689
NM_002617.4(PEX10):c.30G>A (p.Glu10=) rs1643274987
NM_002617.4(PEX10):c.310T>G (p.Tyr104Asp)
NM_002617.4(PEX10):c.313C>G (p.Leu105Val) rs1450880054
NM_002617.4(PEX10):c.315G>A (p.Leu105=)
NM_002617.4(PEX10):c.31G>A (p.Val11Met) rs1643274878
NM_002617.4(PEX10):c.327C>G (p.Ala109=) rs2100429553
NM_002617.4(PEX10):c.327C>T (p.Ala109=) rs2100429553
NM_002617.4(PEX10):c.330G>C (p.Leu110=) rs779704977
NM_002617.4(PEX10):c.333C>T (p.Leu111=) rs781710848
NM_002617.4(PEX10):c.336C>A (p.Pro112=) rs1643091255
NM_002617.4(PEX10):c.336C>T (p.Pro112=)
NM_002617.4(PEX10):c.338T>A (p.Leu113Gln) rs757778155
NM_002617.4(PEX10):c.338del (p.Leu113fs) rs878853044
NM_002617.4(PEX10):c.341A>G (p.Glu114Gly) rs554490737
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter) rs369965266
NM_002617.4(PEX10):c.353A>C (p.Gln118Pro)
NM_002617.4(PEX10):c.357T>A (p.Ala119=)
NM_002617.4(PEX10):c.358G>C (p.Asp120His) rs2100429329
NM_002617.4(PEX10):c.361C>T (p.Pro121Ser) rs1056200158
NM_002617.4(PEX10):c.363del (p.Asp122fs)
NM_002617.4(PEX10):c.366C>T (p.Asp122=) rs1047847063
NM_002617.4(PEX10):c.369T>C (p.Ser123=)
NM_002617.4(PEX10):c.372G>C (p.Gly124=)
NM_002617.4(PEX10):c.374G>A (p.Arg125Gln)
NM_002617.4(PEX10):c.378C>T (p.Pro126=) rs762783424
NM_002617.4(PEX10):c.380T>C (p.Leu127Ser)
NM_002617.4(PEX10):c.384G>A (p.Gln128=)
NM_002617.4(PEX10):c.387G>A (p.Gly129=)
NM_002617.4(PEX10):c.387del (p.Ser130fs) rs2100429148
NM_002617.4(PEX10):c.390C>T (p.Ser130=) rs1425257705
NM_002617.4(PEX10):c.393G>A (p.Leu131=) rs2100429115
NM_002617.4(PEX10):c.394G>C (p.Gly132Arg)
NM_002617.4(PEX10):c.396G>A (p.Gly132=)
NM_002617.4(PEX10):c.399A>G (p.Pro133=)
NM_002617.4(PEX10):c.399A>T (p.Pro133=)
NM_002617.4(PEX10):c.39C>T (p.Arg13=)
NM_002617.4(PEX10):c.3G>A (p.Met1Ile)
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs) rs2100429011
NM_002617.4(PEX10):c.406C>T (p.Arg136Cys)
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
NM_002617.4(PEX10):c.416C>T (p.Ser139Leu)
NM_002617.4(PEX10):c.417A>T (p.Ser139=)
NM_002617.4(PEX10):c.417_418del (p.Arg142fs)
NM_002617.4(PEX10):c.41C>T (p.Ala14Val)
NM_002617.4(PEX10):c.422C>A (p.Ala141Glu)
NM_002617.4(PEX10):c.426G>A (p.Arg142=) rs2100428915
NM_002617.4(PEX10):c.42G>T (p.Ala14=)
NM_002617.4(PEX10):c.430_439del (p.Trp144fs) rs2100428812
NM_002617.4(PEX10):c.431G>C (p.Trp144Ser) rs760785367
NM_002617.4(PEX10):c.434T>C (p.Met145Thr)
NM_002617.4(PEX10):c.436C>G (p.Arg146Gly) rs1184194956
NM_002617.4(PEX10):c.444C>A (p.His148Gln)
NM_002617.4(PEX10):c.446C>G (p.Thr149Arg) rs764948458
NM_002617.4(PEX10):c.44C>T (p.Ala15Val)
NM_002617.4(PEX10):c.450C>T (p.Ala150=)
NM_002617.4(PEX10):c.450del (p.Thr151fs)
NM_002617.4(PEX10):c.452C>T (p.Thr151Ile)
NM_002617.4(PEX10):c.458_461del (p.Thr153fs)
NM_002617.4(PEX10):c.459T>C (p.Thr153=)
NM_002617.4(PEX10):c.45G>A (p.Ala15=)
NM_002617.4(PEX10):c.45G>T (p.Ala15=)
NM_002617.4(PEX10):c.465G>A (p.Gln155=)
NM_002617.4(PEX10):c.471G>A (p.Arg157=)
NM_002617.4(PEX10):c.474G>A (p.Arg158=) rs2100428593
NM_002617.4(PEX10):c.475G>C (p.Ala159Pro)
NM_002617.4(PEX10):c.475del (p.Ala159fs) rs2100428583
NM_002617.4(PEX10):c.476C>T (p.Ala159Val)
NM_002617.4(PEX10):c.478C>T (p.Leu160=) rs2100428537
NM_002617.4(PEX10):c.479T>C (p.Leu160Pro) rs199877853
NM_002617.4(PEX10):c.484C>A (p.Arg162=)
NM_002617.4(PEX10):c.486G>A (p.Arg162=)
NM_002617.4(PEX10):c.486_496del (p.Ala163fs) rs2100428385
NM_002617.4(PEX10):c.489G>A (p.Ala163=) rs767442631
NM_002617.4(PEX10):c.489G>T (p.Ala163=) rs767442631
NM_002617.4(PEX10):c.492C>G (p.Val164=) rs1557910280
NM_002617.4(PEX10):c.496del (p.Val166fs) rs770937339
NM_002617.4(PEX10):c.4G>T (p.Ala2Ser) rs770336711
NM_002617.4(PEX10):c.4del (p.Ala2fs) rs62636524
NM_002617.4(PEX10):c.504_507del (p.Gln169fs) rs2100428321
NM_002617.4(PEX10):c.506_507del (p.Gln169fs) rs1643083325
NM_002617.4(PEX10):c.509del (p.Gly170fs)
NM_002617.4(PEX10):c.50A>G (p.Lys17Arg) rs1643273662
NM_002617.4(PEX10):c.510C>T (p.Gly170=)
NM_002617.4(PEX10):c.514G>A (p.Ala172Thr)
NM_002617.4(PEX10):c.522C>T (p.Leu174=) rs1643082506
NM_002617.4(PEX10):c.526C>A (p.Arg176=)
NM_002617.4(PEX10):c.526C>T (p.Arg176Trp)
NM_002617.4(PEX10):c.52G>C (p.Asp18His) rs61750432
NM_002617.4(PEX10):c.534T>C (p.His178=) rs1570105385
NM_002617.4(PEX10):c.537T>A (p.Val179=)
NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)
NM_002617.4(PEX10):c.54C>T (p.Asp18=) rs1570123615
NM_002617.4(PEX10):c.551_555del (p.Ile184fs)
NM_002617.4(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002617.4(PEX10):c.552C>T (p.Ile184=) rs1248786760
NM_002617.4(PEX10):c.558T>C (p.Gly186=)
NM_002617.4(PEX10):c.55G>T (p.Glu19Ter)
NM_002617.4(PEX10):c.561C>T (p.Val187=) rs944648966
NM_002617.4(PEX10):c.566A>G (p.Tyr189Cys) rs1278563588
NM_002617.4(PEX10):c.573G>A (p.Leu191=) rs2100427960
NM_002617.4(PEX10):c.576C>A (p.Ala192=)
NM_002617.4(PEX10):c.57G>C (p.Glu19Asp)
NM_002617.4(PEX10):c.582G>A (p.Arg194=) rs2100427884
NM_002617.4(PEX10):c.585C>G (p.Leu195=)
NM_002617.4(PEX10):c.589G>A (p.Gly197Arg) rs1397641277
NM_002617.4(PEX10):c.600+11G>A
NM_002617.4(PEX10):c.600+11G>T
NM_002617.4(PEX10):c.600+12G>A
NM_002617.4(PEX10):c.600+16T>C
NM_002617.4(PEX10):c.600+19G>C
NM_002617.4(PEX10):c.600+20G>A
NM_002617.4(PEX10):c.600+8G>A rs2100427732
NM_002617.4(PEX10):c.600C>T (p.Tyr200=)
NM_002617.4(PEX10):c.601-14del rs1643028060
NM_002617.4(PEX10):c.601-1G>C
NM_002617.4(PEX10):c.601-22T>C rs2100423367
NM_002617.4(PEX10):c.601-23G>A rs1643028725
NM_002617.4(PEX10):c.601-25G>A
NM_002617.4(PEX10):c.601-28G>C
NM_002617.4(PEX10):c.601-29T>C rs1195070492
NM_002617.4(PEX10):c.601-31C>T
NM_002617.4(PEX10):c.601-34G>A rs2100423459
NM_002617.4(PEX10):c.601-36A>T rs891345902
NM_002617.4(PEX10):c.601-37C>G
NM_002617.4(PEX10):c.601-38_601-37del rs1553231896
NM_002617.4(PEX10):c.601-39del
NM_002617.4(PEX10):c.601-3C>T rs369643163
NM_002617.4(PEX10):c.601-3_601-2del rs1643027426
NM_002617.4(PEX10):c.601-42C>A rs1164836731
NM_002617.4(PEX10):c.601-43T>C
NM_002617.4(PEX10):c.601-4dup rs2100423250
NM_002617.4(PEX10):c.601-61G>A
NM_002617.4(PEX10):c.601-65C>T
NM_002617.4(PEX10):c.601-66T>G
NM_002617.4(PEX10):c.601-67C>T rs2100423613
NM_002617.4(PEX10):c.601-6T>C rs2100423258
NM_002617.4(PEX10):c.601-70A>G rs1643031375
NM_002617.4(PEX10):c.601-72_601-71del
NM_002617.4(PEX10):c.601-75G>T rs369211467
NM_002617.4(PEX10):c.601-76C>G
NM_002617.4(PEX10):c.601-76C>T rs373676994
NM_002617.4(PEX10):c.601-79G>A
NM_002617.4(PEX10):c.601-80T>C
NM_002617.4(PEX10):c.601C>G (p.Leu201Val)
NM_002617.4(PEX10):c.603C>A (p.Leu201=)
NM_002617.4(PEX10):c.603C>T (p.Leu201=)
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser) rs149615608
NM_002617.4(PEX10):c.604C>T (p.Arg202Cys) rs149615608
NM_002617.4(PEX10):c.605G>C (p.Arg202Pro)
NM_002617.4(PEX10):c.606T>G (p.Arg202=) rs2100423185
NM_002617.4(PEX10):c.610C>T (p.Arg204Cys)
NM_002617.4(PEX10):c.611G>C (p.Arg204Pro)
NM_002617.4(PEX10):c.618G>A (p.Leu206=)
NM_002617.4(PEX10):c.619C>T (p.Pro207Ser)
NM_002617.4(PEX10):c.61T>C (p.Tyr21His) rs2100441317
NM_002617.4(PEX10):c.621C>T (p.Pro207=) rs140107510
NM_002617.4(PEX10):c.622G>T (p.Gly208Ter)
NM_002617.4(PEX10):c.624A>G (p.Gly208=) rs765658863
NM_002617.4(PEX10):c.632T>C (p.Leu211Pro)
NM_002617.4(PEX10):c.633G>C (p.Leu211=) rs1442790649
NM_002617.4(PEX10):c.638C>T (p.Ala213Val)
NM_002617.4(PEX10):c.639C>T (p.Ala213=)
NM_002617.4(PEX10):c.63C>T (p.Tyr21=) rs2100441307
NM_002617.4(PEX10):c.640C>G (p.Arg214Gly)
NM_002617.4(PEX10):c.640del (p.Arg214fs)
NM_002617.4(PEX10):c.643G>A (p.Val215Ile)
NM_002617.4(PEX10):c.645T>A (p.Val215=) rs972385999
NM_002617.4(PEX10):c.64C>T (p.Arg22Cys)
NM_002617.4(PEX10):c.655C>T (p.Leu219=) rs1643024162
NM_002617.4(PEX10):c.660G>A (p.Leu220=) rs1570100349
NM_002617.4(PEX10):c.663G>T (p.Gly221=) rs1292668207
NM_002617.4(PEX10):c.664G>T (p.Val222Phe)
NM_002617.4(PEX10):c.664del (p.Val222fs)
NM_002617.4(PEX10):c.664dup (p.Val222fs) rs1357189926
NM_002617.4(PEX10):c.669C>T (p.Ile223=)
NM_002617.4(PEX10):c.672A>G (p.Ser224=) rs2100422892
NM_002617.4(PEX10):c.673C>T (p.Leu225=)
NM_002617.4(PEX10):c.675G>A (p.Leu225=) rs1643023305
NM_002617.4(PEX10):c.676C>T (p.Leu226=) rs757071778
NM_002617.4(PEX10):c.678G>A (p.Leu226=)
NM_002617.4(PEX10):c.67G>A (p.Gly23Ser)
NM_002617.4(PEX10):c.681C>T (p.His227=)
NM_002617.4(PEX10):c.682C>T (p.Leu228=) rs2100422860
NM_002617.4(PEX10):c.687G>A (p.Val229=)
NM_002617.4(PEX10):c.688C>A (p.Leu230Met) rs1208421193
NM_002617.4(PEX10):c.68G>A (p.Gly23Asp) rs753786568
NM_002617.4(PEX10):c.68G>C (p.Gly23Ala)
NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer) rs768893724
NM_002617.4(PEX10):c.693C>G (p.Ser231=)
NM_002617.4(PEX10):c.695T>C (p.Met232Thr)
NM_002617.4(PEX10):c.6C>T (p.Ala2=) rs112471479
NM_002617.4(PEX10):c.700C>T (p.Leu234=)
NM_002617.4(PEX10):c.702G>A (p.Leu234=)
NM_002617.4(PEX10):c.703C>T (p.Gln235Ter) rs1295555837
NM_002617.4(PEX10):c.708G>A (p.Leu236=) rs779713764
NM_002617.4(PEX10):c.708_709dup (p.Tyr237fs)
NM_002617.4(PEX10):c.712G>A (p.Gly238Ser) rs61736380
NM_002617.4(PEX10):c.727C>T (p.Gln243Ter) rs2100422652
NM_002617.4(PEX10):c.729G>C (p.Gln243His) rs2100422638
NM_002617.4(PEX10):c.731G>A (p.Arg244Gln)
NM_002617.4(PEX10):c.735_738del (p.Lys247fs)
NM_002617.4(PEX10):c.737G>A (p.Arg246Lys) rs1335499698
NM_002617.4(PEX10):c.740A>G (p.Lys247Arg) rs1553231833
NM_002617.4(PEX10):c.741G>A (p.Lys247=) rs1335976315
NM_002617.4(PEX10):c.742G>A (p.Glu248Lys)
NM_002617.4(PEX10):c.744G>C (p.Glu248Asp)
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
NM_002617.4(PEX10):c.747G>A (p.Trp249Ter) rs2100422532
NM_002617.4(PEX10):c.749G>A (p.Arg250Lys)
NM_002617.4(PEX10):c.751C>T (p.Leu251=)
NM_002617.4(PEX10):c.755_756del (p.His252fs) rs1325771720
NM_002617.4(PEX10):c.756C>T (p.His252=) rs1370683677
NM_002617.4(PEX10):c.757C>G (p.Arg253Gly)
NM_002617.4(PEX10):c.757C>T (p.Arg253Cys) rs756537855
NM_002617.4(PEX10):c.758G>T (p.Arg253Leu) rs750769868
NM_002617.4(PEX10):c.759C>T (p.Arg253=) rs767807384
NM_002617.4(PEX10):c.761del (p.Gly254fs) rs1553231820
NM_002617.4(PEX10):c.762_776+10dup rs1433344985
NM_002617.4(PEX10):c.763C>T (p.Leu255=) rs1570099784
NM_002617.4(PEX10):c.768T>G (p.Ser256=) rs368439785
NM_002617.4(PEX10):c.772C>G (p.Arg258Gly) rs760632208
NM_002617.4(PEX10):c.772C>T (p.Arg258Cys)
NM_002617.4(PEX10):c.773_776+17del
NM_002617.4(PEX10):c.776+10G>A rs1241597904
NM_002617.4(PEX10):c.776+11G>C
NM_002617.4(PEX10):c.776+13G>A
NM_002617.4(PEX10):c.776+14C>A
NM_002617.4(PEX10):c.776+15del
NM_002617.4(PEX10):c.776+1G>A
NM_002617.4(PEX10):c.776+1G>C rs869312935
NM_002617.4(PEX10):c.776+4C>G
NM_002617.4(PEX10):c.776+4C>T rs374719922
NM_002617.4(PEX10):c.776+7G>C rs908929901
NM_002617.4(PEX10):c.776+9G>C rs528387404
NM_002617.4(PEX10):c.777-10C>T rs2100421986
NM_002617.4(PEX10):c.777-12C>T rs2100421995
NM_002617.4(PEX10):c.777-12del
NM_002617.4(PEX10):c.777-13C>T
NM_002617.4(PEX10):c.777-14C>T
NM_002617.4(PEX10):c.777-15C>T
NM_002617.4(PEX10):c.777-16G>A
NM_002617.4(PEX10):c.777-17T>C
NM_002617.4(PEX10):c.777-19T>A
NM_002617.4(PEX10):c.777-20C>T
NM_002617.4(PEX10):c.777-4C>T rs2100421969
NM_002617.4(PEX10):c.777-7T>A
NM_002617.4(PEX10):c.778G>C (p.Ala260Pro)
NM_002617.4(PEX10):c.77G>A (p.Arg26Gln)
NM_002617.4(PEX10):c.780C>G (p.Ala260=)
NM_002617.4(PEX10):c.785T>G (p.Leu262Trp) rs748829349
NM_002617.4(PEX10):c.786G>A (p.Leu262=)
NM_002617.4(PEX10):c.787GAG[1] (p.Glu264del)
NM_002617.4(PEX10):c.794_807del (p.Arg265fs)
NM_002617.4(PEX10):c.795A>C (p.Arg265Ser) rs1643011506
NM_002617.4(PEX10):c.795_796del (p.Arg265fs) rs1553231787
NM_002617.4(PEX10):c.799G>A (p.Val267Ile)
NM_002617.4(PEX10):c.810C>T (p.Asn270=)
NM_002617.4(PEX10):c.811C>T (p.Pro271Ser) rs886043542
NM_002617.4(PEX10):c.813C>T (p.Pro271=)
NM_002617.4(PEX10):c.814_815insG (p.Leu272fs)
NM_002617.4(PEX10):c.816G>A (p.Leu272=)
NM_002617.4(PEX10):c.817T>C (p.Cys273Arg)
NM_002617.4(PEX10):c.817T>G (p.Cys273Gly) rs747389749
NM_002617.4(PEX10):c.819C>T (p.Cys273=) rs1570098961
NM_002617.4(PEX10):c.820_828del (p.Thr274_Cys276del)
NM_002617.4(PEX10):c.825G>A (p.Leu275=)
NM_002617.4(PEX10):c.828C>T (p.Cys276=) rs1570098863
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro) rs724160000
NM_002617.4(PEX10):c.831G>A (p.Leu277=)
NM_002617.4(PEX10):c.832dup (p.Glu278fs)
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter) rs62641225
NM_002617.4(PEX10):c.837G>A (p.Glu279=)
NM_002617.4(PEX10):c.841A>G (p.Arg281Gly) rs2100421628
NM_002617.4(PEX10):c.849A>G (p.Pro283=) rs2100421591
NM_002617.4(PEX10):c.84G>C (p.Ala28=)
NM_002617.4(PEX10):c.855C>T (p.Ala285=)
NM_002617.4(PEX10):c.858_870del (p.Pro287fs)
NM_002617.4(PEX10):c.867C>T (p.Gly289=) rs1189215652
NM_002617.4(PEX10):c.868dup (p.His290fs)
NM_002617.4(PEX10):c.87G>A (p.Ala29=) rs1570123397
NM_002617.4(PEX10):c.882G>A (p.Trp294Ter)
NM_002617.4(PEX10):c.882G>C (p.Trp294Cys)
NM_002617.4(PEX10):c.885G>A (p.Glu295=)
NM_002617.4(PEX10):c.887del (p.Cys296fs)
NM_002617.4(PEX10):c.899G>A (p.Trp300Ter)
NM_002617.4(PEX10):c.8C>T (p.Pro3Leu)
NM_002617.4(PEX10):c.8del (p.Pro3fs)
NM_002617.4(PEX10):c.903del (p.Trp300_Cys301insTer)
NM_002617.4(PEX10):c.905G>A (p.Ser302Asn)
NM_002617.4(PEX10):c.907_908insCTTA (p.Ser303delinsThrTer)
NM_002617.4(PEX10):c.908G>C (p.Ser303Thr) rs2100421331
NM_002617.4(PEX10):c.909C>T (p.Ser303=)
NM_002617.4(PEX10):c.90C>A (p.Gly30=) rs1482910211
NM_002617.4(PEX10):c.90C>T (p.Gly30=) rs1482910211
NM_002617.4(PEX10):c.911A>G (p.Lys304Arg)
NM_002617.4(PEX10):c.912+10del rs2100421300
NM_002617.4(PEX10):c.912+14C>A rs2100421277
NM_002617.4(PEX10):c.912+16G>A
NM_002617.4(PEX10):c.912+19G>C
NM_002617.4(PEX10):c.912+1G>C rs1553231739
NM_002617.4(PEX10):c.912+20C>T
NM_002617.4(PEX10):c.912+8G>A
NM_002617.4(PEX10):c.913-11C>T
NM_002617.4(PEX10):c.913-14T>C
NM_002617.4(PEX10):c.913-15_913-14del
NM_002617.4(PEX10):c.913-17C>G
NM_002617.4(PEX10):c.913-17del
NM_002617.4(PEX10):c.913-19C>T
NM_002617.4(PEX10):c.913-20C>T
NM_002617.4(PEX10):c.913-9T>C rs1642980853
NM_002617.4(PEX10):c.913G>A (p.Ala305Thr) rs2100419175
NM_002617.4(PEX10):c.914C>T (p.Ala305Val)
NM_002617.4(PEX10):c.916del (p.Glu306fs) rs2100419143
NM_002617.4(PEX10):c.924C>T (p.Pro308=)
NM_002617.4(PEX10):c.926T>A (p.Leu309His) rs1175081963
NM_002617.4(PEX10):c.928T>C (p.Cys310Arg)
NM_002617.4(PEX10):c.929G>A (p.Cys310Tyr)
NM_002617.4(PEX10):c.92G>A (p.Gly31Asp) rs1643271462
NM_002617.4(PEX10):c.931C>G (p.Arg311Gly) rs765965290
NM_002617.4(PEX10):c.933G>A (p.Arg311=)
NM_002617.4(PEX10):c.942C>T (p.Phe314=)
NM_002617.4(PEX10):c.944C>G (p.Pro315Arg) rs2100418995
NM_002617.4(PEX10):c.945T>C (p.Pro315=)
NM_002617.4(PEX10):c.946C>T (p.Pro316Ser) rs1642979023
NM_002617.4(PEX10):c.952A>G (p.Lys318Glu) rs762351770
NM_002617.4(PEX10):c.953A>G (p.Lys318Arg) rs995942123
NM_002617.4(PEX10):c.957C>T (p.Leu319=) rs1458600804
NM_002617.4(PEX10):c.968G>C (p.Arg323Pro)
NM_002617.4(PEX10):c.96C>T (p.Ala32=)
NM_002617.4(PEX10):c.976C>A (p.Arg326Ser)
NM_002617.4(PEX10):c.976C>T (p.Arg326Cys)
NM_002617.4(PEX10):c.978C>G (p.Arg326=)
NM_002617.4(PEX10):c.9G>A (p.Pro3=)
NM_002617.4(PEX10):c.9G>C (p.Pro3=) rs977160082
NM_002617.4(PEX10):c.9G>T (p.Pro3=) rs977160082
NM_002617.4(PEX10):c.9_17del (p.Ala4_Ala6del) rs2100441672

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.