NM_000466.3(PEX1):c.3439-14_3439-13del
|
rs150005994
|
0.02536
|
NM_000466.3(PEX1):c.2901G>A (p.Gln967=)
|
rs111704518
|
0.00792
|
NM_000466.3(PEX1):c.3720C>T (p.His1240=)
|
rs34825053
|
0.00582
|
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg)
|
rs139054881
|
0.00188
|
NM_000466.3(PEX1):c.*292G>A
|
rs138531138
|
0.00159
|
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=)
|
rs143220470
|
0.00124
|
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser)
|
rs147870525
|
0.00096
|
NM_000466.3(PEX1):c.2926+8T>C
|
rs369877998
|
0.00093
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)
|
rs142994610
|
0.00065
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)
|
rs182452430
|
0.00032
|
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala)
|
rs185181696
|
0.00029
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser)
|
rs754130942
|
0.00028
|
NM_000466.3(PEX1):c.2868T>A (p.Val956=)
|
rs200663477
|
0.00024
|
NM_000466.3(PEX1):c.3526G>T (p.Val1176Leu)
|
rs200059929
|
0.00024
|
NM_000466.3(PEX1):c.3030+19G>C
|
rs372197553
|
0.00023
|
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly)
|
rs539784253
|
0.00018
|
NM_000466.3(PEX1):c.3343G>A (p.Glu1115Lys)
|
rs372796096
|
0.00017
|
NM_000466.3(PEX1):c.2876G>A (p.Arg959Gln)
|
rs773206107
|
0.00016
|
NM_000466.3(PEX1):c.3439-16A>G
|
rs563019269
|
0.00016
|
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val)
|
rs781277635
|
0.00014
|
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn)
|
rs753699011
|
0.00014
|
NM_000466.3(PEX1):c.3198T>C (p.Ser1066=)
|
rs150190899
|
0.00012
|
NM_000466.3(PEX1):c.3207+15G>A
|
rs779395013
|
0.00012
|
NM_000466.3(PEX1):c.2954G>A (p.Arg985His)
|
rs202057449
|
0.00011
|
NM_000466.3(PEX1):c.3650T>G (p.Met1217Arg)
|
rs200306465
|
0.00010
|
NM_000466.3(PEX1):c.3130G>A (p.Gly1044Arg)
|
rs371136331
|
0.00009
|
NM_000466.3(PEX1):c.3637-14T>C
|
rs745612436
|
0.00008
|
NM_000466.3(PEX1):c.3762T>C (p.Ala1254=)
|
rs375213175
|
0.00008
|
NM_000466.3(PEX1):c.*428A>G
|
rs769772779
|
0.00007
|
NM_000466.3(PEX1):c.3398C>T (p.Ser1133Phe)
|
rs185115432
|
0.00007
|
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)
|
rs374167385
|
0.00006
|
NM_000466.3(PEX1):c.2843G>A (p.Arg948Gln)
|
rs535271603
|
0.00006
|
NM_000466.3(PEX1):c.2926+1G>A
|
rs267608179
|
0.00006
|
NM_000466.3(PEX1):c.2927-12T>A
|
rs375062546
|
0.00006
|
NM_000466.3(PEX1):c.3009A>G (p.Val1003=)
|
rs560095065
|
0.00006
|
NM_000466.3(PEX1):c.2953C>T (p.Arg985Cys)
|
rs371988432
|
0.00005
|
NM_000466.3(PEX1):c.3623G>A (p.Arg1208Gln)
|
rs767337582
|
0.00005
|
NM_000466.3(PEX1):c.*133G>C
|
rs886062500
|
0.00004
|
NM_000466.3(PEX1):c.*234T>C
|
rs1004289500
|
0.00004
|
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)
|
rs61750425
|
0.00004
|
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)
|
rs61750427
|
0.00003
|
NM_000466.3(PEX1):c.3068C>G (p.Ser1023Cys)
|
rs547203417
|
0.00003
|
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=)
|
rs776231556
|
0.00003
|
NM_000466.3(PEX1):c.3344A>G (p.Glu1115Gly)
|
rs762474729
|
0.00003
|
NM_000466.3(PEX1):c.3566C>T (p.Thr1189Ile)
|
rs749324355
|
0.00003
|
NM_000466.3(PEX1):c.*180A>G
|
rs996832628
|
0.00002
|
NM_000466.3(PEX1):c.2784-15G>T
|
rs749338208
|
0.00002
|
NM_000466.3(PEX1):c.2961C>T (p.Asp987=)
|
rs750723164
|
0.00002
|
NM_000466.3(PEX1):c.3381G>A (p.Arg1127=)
|
rs148972713
|
0.00002
|
NM_000466.3(PEX1):c.3428C>G (p.Ser1143Cys)
|
rs1198978658
|
0.00002
|
NM_000466.3(PEX1):c.3824G>A (p.Arg1275Gln)
|
rs150793635
|
0.00002
|
NM_000466.3(PEX1):c.*236C>A
|
rs1403267319
|
0.00001
|
NM_000466.3(PEX1):c.2789A>G (p.Gln930Arg)
|
rs201376737
|
0.00001
|
NM_000466.3(PEX1):c.2833A>G (p.Ile945Val)
|
rs753349772
|
0.00001
|
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)
|
rs866184460
|
0.00001
|
NM_000466.3(PEX1):c.2853T>C (p.His951=)
|
rs768094112
|
0.00001
|
NM_000466.3(PEX1):c.2895G>C (p.Leu965=)
|
rs1585221185
|
0.00001
|
NM_000466.3(PEX1):c.2926+2T>C
|
rs267608180
|
0.00001
|
NM_000466.3(PEX1):c.2926+4A>G
|
rs749060853
|
0.00001
|
NM_000466.3(PEX1):c.2927-6C>T
|
rs770779494
|
0.00001
|
NM_000466.3(PEX1):c.2927-8T>C
|
rs778618662
|
0.00001
|
NM_000466.3(PEX1):c.2934T>C (p.Tyr978=)
|
rs755770436
|
0.00001
|
NM_000466.3(PEX1):c.2942C>T (p.Ala981Val)
|
rs780843399
|
0.00001
|
NM_000466.3(PEX1):c.2947A>C (p.Thr983Pro)
|
rs1791533248
|
0.00001
|
NM_000466.3(PEX1):c.2993G>A (p.Arg998Gln)
|
rs61750429
|
0.00001
|
NM_000466.3(PEX1):c.3007G>A (p.Val1003Ile)
|
rs147055244
|
0.00001
|
NM_000466.3(PEX1):c.3030+7A>G
|
rs373933048
|
0.00001
|
NM_000466.3(PEX1):c.3038G>C (p.Arg1013Pro)
|
rs1484321655
|
0.00001
|
NM_000466.3(PEX1):c.3042T>G (p.Leu1014=)
|
rs746546952
|
0.00001
|
NM_000466.3(PEX1):c.3102T>C (p.His1034=)
|
rs1199510404
|
0.00001
|
NM_000466.3(PEX1):c.3151C>A (p.Leu1051Ile)
|
rs138992611
|
0.00001
|
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)
|
rs1009877821
|
0.00001
|
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)
|
rs768417678
|
0.00001
|
NM_000466.3(PEX1):c.3207+9T>C
|
rs771463817
|
0.00001
|
NM_000466.3(PEX1):c.3208-1G>A
|
rs1057517518
|
0.00001
|
NM_000466.3(PEX1):c.3208-3T>C
|
rs763767937
|
0.00001
|
NM_000466.3(PEX1):c.3208-9G>T
|
rs1381356182
|
0.00001
|
NM_000466.3(PEX1):c.3222C>T (p.Ser1074=)
|
rs1327864856
|
0.00001
|
NM_000466.3(PEX1):c.3282C>T (p.Asp1094=)
|
rs577474412
|
0.00001
|
NM_000466.3(PEX1):c.3304T>C (p.Cys1102Arg)
|
rs752475812
|
0.00001
|
NM_000466.3(PEX1):c.3369C>T (p.Phe1123=)
|
rs773621481
|
0.00001
|
NM_000466.3(PEX1):c.3383T>A (p.Leu1128His)
|
rs747206901
|
0.00001
|
NM_000466.3(PEX1):c.3439-13A>G
|
rs756042510
|
0.00001
|
NM_000466.3(PEX1):c.3483G>C (p.Leu1161Phe)
|
rs375607384
|
0.00001
|
NM_000466.3(PEX1):c.3485C>G (p.Pro1162Arg)
|
rs139869362
|
0.00001
|
NM_000466.3(PEX1):c.3510G>A (p.Leu1170=)
|
rs368014758
|
0.00001
|
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=)
|
rs374673391
|
0.00001
|
NM_000466.3(PEX1):c.3585A>G (p.Gln1195=)
|
rs371622709
|
0.00001
|
NM_000466.3(PEX1):c.3594A>G (p.Ala1198=)
|
rs1234805996
|
0.00001
|
NM_000466.3(PEX1):c.3598A>T (p.Ile1200Phe)
|
rs886043722
|
0.00001
|
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=)
|
rs753334806
|
0.00001
|
NM_000466.3(PEX1):c.3636+4T>C
|
rs764752742
|
0.00001
|
NM_000466.3(PEX1):c.3637-19A>G
|
rs367814599
|
0.00001
|
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=)
|
rs777384403
|
0.00001
|
NM_000466.3(PEX1):c.3645A>G (p.Glu1215=)
|
rs483352694
|
0.00001
|
NM_000466.3(PEX1):c.3665C>T (p.Pro1222Leu)
|
rs371575516
|
0.00001
|
NM_000466.3(PEX1):c.3678A>T (p.Arg1226Ser)
|
rs1173172739
|
0.00001
|
NM_000466.3(PEX1):c.3687T>C (p.Ile1229=)
|
rs368274049
|
0.00001
|
NM_000466.3(PEX1):c.3692A>G (p.Gln1231Arg)
|
rs766682184
|
0.00001
|
NM_000466.3(PEX1):c.3710C>T (p.Ala1237Val)
|
rs1473858573
|
0.00001
|
NM_000466.3(PEX1):c.3767+13T>C
|
rs370369794
|
0.00001
|
NM_000466.3(PEX1):c.3767+16del
|
rs781629883
|
0.00001
|
NM_000466.3(PEX1):c.3772G>A (p.Glu1258Lys)
|
rs749050363
|
0.00001
|
NM_000466.3(PEX1):c.3801A>G (p.Lys1267=)
|
rs375758017
|
0.00001
|
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter)
|
rs755549316
|
0.00001
|
NM_000466.3(PEX1):c.3839T>A (p.Val1280Glu)
|
rs765142376
|
0.00001
|
NC_000007.14:g.(?_92489273)_(92491522_?)del
|
|
|
NM_000466.3(PEX1):c.*241T>C
|
rs886062499
|
|
NM_000466.3(PEX1):c.2784-15G>A
|
|
|
NM_000466.3(PEX1):c.2784-15_2784-13del
|
rs1432413300
|
|
NM_000466.3(PEX1):c.2784-1G>C
|
|
|
NM_000466.3(PEX1):c.2784-5C>T
|
|
|
NM_000466.3(PEX1):c.2784-6T>C
|
|
|
NM_000466.3(PEX1):c.2784-7T>C
|
rs777893142
|
|
NM_000466.3(PEX1):c.2784-9T>C
|
|
|
NM_000466.3(PEX1):c.2788C>T (p.Gln930Ter)
|
|
|
NM_000466.3(PEX1):c.2793T>C (p.Ala931=)
|
rs2116095814
|
|
NM_000466.3(PEX1):c.2798dup (p.Pro934fs)
|
rs1057517484
|
|
NM_000466.3(PEX1):c.2799G>A (p.Lys933=)
|
|
|
NM_000466.3(PEX1):c.2802C>G (p.Pro934=)
|
rs2116095731
|
|
NM_000466.3(PEX1):c.2816_2817del (p.Phe938_Phe939insTer)
|
rs1791555145
|
|
NM_000466.3(PEX1):c.2817T>C (p.Phe939=)
|
|
|
NM_000466.3(PEX1):c.2817TGA[1] (p.Asp940del)
|
rs1554368794
|
|
NM_000466.3(PEX1):c.2820T>C (p.Asp940=)
|
rs2116095539
|
|
NM_000466.3(PEX1):c.2822_2823del (p.Glu941fs)
|
rs2116095487
|
|
NM_000466.3(PEX1):c.2823A>G (p.Glu941=)
|
rs1585221444
|
|
NM_000466.3(PEX1):c.2826T>G (p.Phe942Leu)
|
rs756877568
|
|
NM_000466.3(PEX1):c.2832C>T (p.Ser944=)
|
|
|
NM_000466.3(PEX1):c.2841T>C (p.Pro947=)
|
rs2116095239
|
|
NM_000466.3(PEX1):c.2844G>T (p.Arg948=)
|
|
|
NM_000466.3(PEX1):c.2847G>T (p.Arg949=)
|
|
|
NM_000466.3(PEX1):c.2848G>T (p.Gly950Cys)
|
rs1791552137
|
|
NM_000466.3(PEX1):c.2849dup (p.His951fs)
|
|
|
NM_000466.3(PEX1):c.2852dup (p.His951fs)
|
rs767877383
|
|
NM_000466.3(PEX1):c.2854_2856del (p.Asp952del)
|
rs762236071
|
|
NM_000466.3(PEX1):c.2859T>C (p.Asn953=)
|
rs1554368757
|
|
NM_000466.3(PEX1):c.2859dup (p.Thr954fs)
|
rs1057517472
|
|
NM_000466.3(PEX1):c.2861_2862dup (p.Gly955fs)
|
|
|
NM_000466.3(PEX1):c.2862A>G (p.Thr954=)
|
rs774719262
|
|
NM_000466.3(PEX1):c.2862A>T (p.Thr954=)
|
|
|
NM_000466.3(PEX1):c.2873_2875delinsT (p.Asp958fs)
|
rs2116094537
|
|
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)
|
rs1057517481
|
|
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro)
|
rs773206107
|
|
NM_000466.3(PEX1):c.2879T>C (p.Val960Ala)
|
|
|
NM_000466.3(PEX1):c.2886C>T (p.Asn962=)
|
rs2116094397
|
|
NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter)
|
|
|
NM_000466.3(PEX1):c.2895G>A (p.Leu965=)
|
|
|
NM_000466.3(PEX1):c.2902T>C (p.Leu968=)
|
rs933191144
|
|
NM_000466.3(PEX1):c.2910A>T (p.Gly970=)
|
|
|
NM_000466.3(PEX1):c.2912T>A (p.Val971Glu)
|
rs745667444
|
|
NM_000466.3(PEX1):c.2912T>C (p.Val971Ala)
|
rs745667444
|
|
NM_000466.3(PEX1):c.2913A>T (p.Val971=)
|
rs2116094067
|
|
NM_000466.3(PEX1):c.2915_2916dup (p.Gly973fs)
|
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
NM_000466.3(PEX1):c.2919C>G (p.Gly973=)
|
|
|
NM_000466.3(PEX1):c.2922del (p.Leu974fs)
|
rs762324548
|
|
NM_000466.3(PEX1):c.2926+11T>C
|
|
|
NM_000466.3(PEX1):c.2926+12A>G
|
|
|
NM_000466.3(PEX1):c.2926+13_2926+16del
|
|
|
NM_000466.3(PEX1):c.2926+1del
|
rs1791544171
|
|
NM_000466.3(PEX1):c.2926+9T>C
|
|
|
NM_000466.3(PEX1):c.2927-10T>A
|
rs2116092636
|
|
NM_000466.3(PEX1):c.2927-14_2927-12del
|
|
|
NM_000466.3(PEX1):c.2927-14_2927-13del
|
rs765202366
|
|
NM_000466.3(PEX1):c.2927-17G>A
|
|
|
NM_000466.3(PEX1):c.2927-17G>C
|
|
|
NM_000466.3(PEX1):c.2927-18T>A
|
|
|
NM_000466.3(PEX1):c.2927-19dup
|
|
|
NM_000466.3(PEX1):c.2927-2A>G
|
rs1057517531
|
|
NM_000466.3(PEX1):c.2927-4C>G
|
|
|
NM_000466.3(PEX1):c.2927-4C>T
|
rs1033915282
|
|
NM_000466.3(PEX1):c.2927-7C>A
|
rs1585220765
|
|
NM_000466.3(PEX1):c.2927-9T>C
|
|
|
NM_000466.3(PEX1):c.2929G>A (p.Val977Ile)
|
|
|
NM_000466.3(PEX1):c.2932dup (p.Tyr978fs)
|
|
|
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr)
|
rs566068815
|
|
NM_000466.3(PEX1):c.2943T>A (p.Ala981=)
|
|
|
NM_000466.3(PEX1):c.2949T>C (p.Thr983=)
|
|
|
NM_000466.3(PEX1):c.2951G>A (p.Ser984Asn)
|
|
|
NM_000466.3(PEX1):c.2967T>C (p.Ile989=)
|
|
|
NM_000466.3(PEX1):c.2973T>C (p.Pro991=)
|
|
|
NM_000466.3(PEX1):c.2977dup (p.Leu993fs)
|
rs2116091859
|
|
NM_000466.3(PEX1):c.2979G>A (p.Leu993=)
|
rs768697489
|
|
NM_000466.3(PEX1):c.2980C>T (p.Leu994Phe)
|
rs760620313
|
|
NM_000466.3(PEX1):c.2985G>A (p.Arg995=)
|
|
|
NM_000466.3(PEX1):c.2989G>C (p.Gly997Arg)
|
|
|
NM_000466.3(PEX1):c.2992C>A (p.Arg998=)
|
rs61750428
|
|
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)
|
rs61750428
|
|
NM_000466.3(PEX1):c.2995C>A (p.Leu999Ile)
|
rs1791529840
|
|
NM_000466.3(PEX1):c.3003del (p.Lys1001fs)
|
|
|
NM_000466.3(PEX1):c.3003dup (p.Cys1002fs)
|
rs1562847911
|
|
NM_000466.3(PEX1):c.3005_3011dup (p.Tyr1004Ter)
|
rs2116091512
|
|
NM_000466.3(PEX1):c.3014G>C (p.Cys1005Ser)
|
rs1367395648
|
|
NM_000466.3(PEX1):c.3030+10T>A
|
|
|
NM_000466.3(PEX1):c.3030+12A>G
|
rs1163936793
|
|
NM_000466.3(PEX1):c.3030+13T>C
|
|
|
NM_000466.3(PEX1):c.3030+15T>C
|
|
|
NM_000466.3(PEX1):c.3030+16T>G
|
rs1442744769
|
|
NM_000466.3(PEX1):c.3031-16A>T
|
|
|
NM_000466.3(PEX1):c.3031-1G>A
|
|
|
NM_000466.3(PEX1):c.3031-7C>T
|
|
|
NM_000466.3(PEX1):c.3031-9T>C
|
rs113162185
|
|
NM_000466.3(PEX1):c.3031-9T>G
|
rs113162185
|
|
NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys)
|
rs1791439311
|
|
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)
|
rs1484321655
|
|
NM_000466.3(PEX1):c.3043_3044del (p.Glu1015fs)
|
|
|
NM_000466.3(PEX1):c.3048T>C (p.Ile1016=)
|
|
|
NM_000466.3(PEX1):c.3053A>G (p.Asn1018Ser)
|
|
|
NM_000466.3(PEX1):c.3054T>C (p.Asn1018=)
|
|
|
NM_000466.3(PEX1):c.3057C>T (p.Val1019=)
|
rs1276724578
|
|
NM_000466.3(PEX1):c.3060C>T (p.Leu1020=)
|
rs2116079036
|
|
NM_000466.3(PEX1):c.3062G>A (p.Ser1021Asn)
|
rs1330798276
|
|
NM_000466.3(PEX1):c.3068C>T (p.Ser1023Phe)
|
rs547203417
|
|
NM_000466.3(PEX1):c.3068_3071del (p.Ser1023fs)
|
|
|
NM_000466.3(PEX1):c.3069T>C (p.Ser1023=)
|
|
|
NM_000466.3(PEX1):c.3070C>T (p.Leu1024=)
|
|
|
NM_000466.3(PEX1):c.3070_3071del (p.Leu1024fs)
|
rs1312351030
|
|
NM_000466.3(PEX1):c.3076C>T (p.Leu1026=)
|
|
|
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)
|
rs954814470
|
|
NM_000466.3(PEX1):c.3080C>T (p.Ala1027Val)
|
|
|
NM_000466.3(PEX1):c.3085G>T (p.Asp1029Tyr)
|
|
|
NM_000466.3(PEX1):c.3094dup (p.Leu1032fs)
|
|
|
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=)
|
rs1030151030
|
|
NM_000466.3(PEX1):c.3111A>T (p.Ser1037=)
|
|
|
NM_000466.3(PEX1):c.3115A>G (p.Thr1039Ala)
|
|
|
NM_000466.3(PEX1):c.3115del (p.Thr1039fs)
|
rs1562846257
|
|
NM_000466.3(PEX1):c.3117T>C (p.Thr1039=)
|
|
|
NM_000466.3(PEX1):c.3118_3121del (p.Asp1040fs)
|
|
|
NM_000466.3(PEX1):c.3119_3130del (p.Asp1040_Thr1043del)
|
rs1554368148
|
|
NM_000466.3(PEX1):c.3120C>G (p.Asp1040Glu)
|
rs2116078096
|
|
NM_000466.3(PEX1):c.3120C>T (p.Asp1040=)
|
rs2116078096
|
|
NM_000466.3(PEX1):c.3122C>T (p.Ser1041Phe)
|
|
|
NM_000466.3(PEX1):c.3123C>T (p.Ser1041=)
|
|
|
NM_000466.3(PEX1):c.3129T>C (p.Thr1043=)
|
rs374905629
|
|
NM_000466.3(PEX1):c.3129T>G (p.Thr1043=)
|
rs374905629
|
|
NM_000466.3(PEX1):c.3132A>C (p.Gly1044=)
|
|
|
NM_000466.3(PEX1):c.3151C>T (p.Leu1051Phe)
|
|
|
NM_000466.3(PEX1):c.3152_3156del (p.Leu1051fs)
|
rs2116077430
|
|
NM_000466.3(PEX1):c.3153T>G (p.Leu1051=)
|
rs2116077487
|
|
NM_000466.3(PEX1):c.3158dup (p.Asn1053fs)
|
rs2116077400
|
|
NM_000466.3(PEX1):c.3161C>T (p.Ala1054Val)
|
rs886062503
|
|
NM_000466.3(PEX1):c.3172G>A (p.Ala1058Thr)
|
rs1791428584
|
|
NM_000466.3(PEX1):c.3173C>G (p.Ala1058Gly)
|
|
|
NM_000466.3(PEX1):c.3174C>T (p.Ala1058=)
|
rs2116077059
|
|
NM_000466.3(PEX1):c.3176T>C (p.Leu1059Ser)
|
|
|
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs)
|
rs61750430
|
|
NM_000466.3(PEX1):c.3181G>A (p.Gly1061Arg)
|
rs1230486358
|
|
NM_000466.3(PEX1):c.3189G>T (p.Leu1063=)
|
rs2116076833
|
|
NM_000466.3(PEX1):c.3194C>T (p.Ser1065Leu)
|
|
|
NM_000466.3(PEX1):c.3195G>C (p.Ser1065=)
|
|
|
NM_000466.3(PEX1):c.3195G>T (p.Ser1065=)
|
rs768417678
|
|
NM_000466.3(PEX1):c.3196A>C (p.Ser1066Arg)
|
rs1791427153
|
|
NM_000466.3(PEX1):c.3204C>T (p.Leu1068=)
|
rs775109675
|
|
NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter)
|
rs1562846113
|
|
NM_000466.3(PEX1):c.3207+11T>C
|
|
|
NM_000466.3(PEX1):c.3207+14G>C
|
|
|
NM_000466.3(PEX1):c.3207+14G>T
|
rs1456695265
|
|
NM_000466.3(PEX1):c.3207+1G>C
|
rs267608181
|
|
NM_000466.3(PEX1):c.3207+2C>A
|
rs1554368097
|
|
NM_000466.3(PEX1):c.3207+8A>T
|
|
|
NM_000466.3(PEX1):c.3208-19G>A
|
|
|
NM_000466.3(PEX1):c.3208-9G>A
|
rs1381356182
|
|
NM_000466.3(PEX1):c.3221G>T (p.Ser1074Ile)
|
rs1164302223
|
|
NM_000466.3(PEX1):c.3228T>C (p.Asp1076=)
|
|
|
NM_000466.3(PEX1):c.3235C>T (p.Leu1079=)
|
rs770075964
|
|
NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs)
|
rs1057517509
|
|
NM_000466.3(PEX1):c.3241C>T (p.Leu1081=)
|
|
|
NM_000466.3(PEX1):c.3242T>C (p.Leu1081Pro)
|
rs2116060032
|
|
NM_000466.3(PEX1):c.3249A>G (p.Ser1083=)
|
|
|
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
|
|
|
NM_000466.3(PEX1):c.3258del (p.Asn1088fs)
|
rs2116059954
|
|
NM_000466.3(PEX1):c.3259_3260del (p.Phe1086_Leu1087insTer)
|
rs2116059937
|
|
NM_000466.3(PEX1):c.3261_3262insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCTGGCGGTCGGGCGGCGGCGGCTGCCTCAATGGTCTTTCTT (p.Leu1087_Asn1088insPhePhePhePhePhePheXaaXaaXaaXaaAlaAlaAlaLysThrGluThrAlaProLeuProAlaGluLeuHisProProGlyGlyArgAlaAlaAlaAlaAlaSerMetValPheLeu)
|
|
|
NM_000466.3(PEX1):c.3267T>C (p.His1089=)
|
|
|
NM_000466.3(PEX1):c.3269_3270insTAAAGGA (p.Ser1091fs)
|
|
|
NM_000466.3(PEX1):c.3270C>T (p.Ser1090=)
|
|
|
NM_000466.3(PEX1):c.3271A>G (p.Ser1091Gly)
|
|
|
NM_000466.3(PEX1):c.3273T>C (p.Ser1091=)
|
rs2116059800
|
|
NM_000466.3(PEX1):c.3280G>A (p.Asp1094Asn)
|
|
|
NM_000466.3(PEX1):c.3287C>G (p.Ser1096Ter)
|
|
|
NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)
|
|
|
NM_000466.3(PEX1):c.3301G>T (p.Glu1101Ter)
|
rs2116059303
|
|
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)
|
rs886043558
|
|
NM_000466.3(PEX1):c.3308del (p.Gly1103fs)
|
|
|
NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter)
|
|
|
NM_000466.3(PEX1):c.3321C>T (p.Ser1107=)
|
|
|
NM_000466.3(PEX1):c.3324T>C (p.Leu1108=)
|
rs2116058719
|
|
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)
|
rs1585214453
|
|
NM_000466.3(PEX1):c.3330T>C (p.Ser1110=)
|
rs2116058613
|
|
NM_000466.3(PEX1):c.3330T>G (p.Ser1110=)
|
|
|
NM_000466.3(PEX1):c.3332_3354del (p.Ser1110_Leu1111insTer)
|
rs1554367358
|
|
NM_000466.3(PEX1):c.3340T>A (p.Ser1114Thr)
|
|
|
NM_000466.3(PEX1):c.3341C>T (p.Ser1114Phe)
|
|
|
NM_000466.3(PEX1):c.3342C>T (p.Ser1114=)
|
rs1248223186
|
|
NM_000466.3(PEX1):c.3351T>C (p.Leu1117=)
|
rs2116058345
|
|
NM_000466.3(PEX1):c.3354A>C (p.Pro1118=)
|
|
|
NM_000466.3(PEX1):c.3360A>G (p.Glu1120=)
|
|
|
NM_000466.3(PEX1):c.3378C>T (p.Tyr1126=)
|
rs61750431
|
|
NM_000466.3(PEX1):c.3379C>T (p.Arg1127Trp)
|
|
|
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs)
|
rs794729652
|
|
NM_000466.3(PEX1):c.3380G>A (p.Arg1127Gln)
|
|
|
NM_000466.3(PEX1):c.3384C>A (p.Leu1128=)
|
|
|
NM_000466.3(PEX1):c.3395G>A (p.Ser1132Asn)
|
rs2116057948
|
|
NM_000466.3(PEX1):c.3396C>T (p.Ser1132=)
|
|
|
NM_000466.3(PEX1):c.3400dup (p.Tyr1134fs)
|
|
|
NM_000466.3(PEX1):c.3402T>C (p.Tyr1134=)
|
rs758575707
|
|
NM_000466.3(PEX1):c.3409G>T (p.Glu1137Ter)
|
|
|
NM_000466.3(PEX1):c.3416G>A (p.Gly1139Glu)
|
|
|
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del)
|
rs758076338
|
|
NM_000466.3(PEX1):c.3420T>C (p.Asn1140=)
|
|
|
NM_000466.3(PEX1):c.3422del (p.Gly1141fs)
|
|
|
NM_000466.3(PEX1):c.3425C>A (p.Thr1142Asn)
|
|
|
NM_000466.3(PEX1):c.3426C>A (p.Thr1142=)
|
rs143220470
|
|
NM_000466.3(PEX1):c.3426C>G (p.Thr1142=)
|
rs143220470
|
|
NM_000466.3(PEX1):c.3436T>C (p.Leu1146=)
|
rs1307285416
|
|
NM_000466.3(PEX1):c.3438+17T>A
|
|
|
NM_000466.3(PEX1):c.3438+1G>A
|
rs1554367284
|
|
NM_000466.3(PEX1):c.3438+1G>T
|
rs1554367284
|
|
NM_000466.3(PEX1):c.3438+20T>C
|
|
|
NM_000466.3(PEX1):c.3438+7T>C
|
rs2116057339
|
|
NM_000466.3(PEX1):c.3438+8G>A
|
rs2116057302
|
|
NM_000466.3(PEX1):c.3438+9T>C
|
rs2116057274
|
|
NM_000466.3(PEX1):c.3438G>A (p.Leu1146=)
|
rs1585214175
|
|
NM_000466.3(PEX1):c.3439-11T>C
|
|
|
NM_000466.3(PEX1):c.3439-15C>T
|
|
|
NM_000466.3(PEX1):c.3439-21_3439-16dup
|
|
|
NM_000466.3(PEX1):c.3439-2A>G
|
|
|
NM_000466.3(PEX1):c.3439-5T>C
|
rs1483920015
|
|
NM_000466.3(PEX1):c.3439-5T>G
|
|
|
NM_000466.3(PEX1):c.3439-8C>T
|
|
|
NM_000466.3(PEX1):c.3444A>C (p.Ser1148=)
|
|
|
NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)
|
|
|
NM_000466.3(PEX1):c.3447A>G (p.Gln1149=)
|
rs781059210
|
|
NM_000466.3(PEX1):c.3447A>T (p.Gln1149His)
|
rs781059210
|
|
NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter)
|
rs1459743428
|
|
NM_000466.3(PEX1):c.3450T>C (p.Cys1150=)
|
rs1459743428
|
|
NM_000466.3(PEX1):c.3453C>G (p.Leu1151=)
|
|
|
NM_000466.3(PEX1):c.3453C>T (p.Leu1151=)
|
|
|
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs)
|
rs759183382
|
|
NM_000466.3(PEX1):c.3455_3456dup (p.Ala1153fs)
|
rs759183382
|
|
NM_000466.3(PEX1):c.3459A>C (p.Ala1153=)
|
rs2116045162
|
|
NM_000466.3(PEX1):c.3463A>C (p.Ser1155Arg)
|
rs1791190751
|
|
NM_000466.3(PEX1):c.3489A>T (p.Gly1163=)
|
|
|
NM_000466.3(PEX1):c.3490G>A (p.Val1164Ile)
|
|
|
NM_000466.3(PEX1):c.3494C>T (p.Pro1165Leu)
|
|
|
NM_000466.3(PEX1):c.3501A>G (p.Lys1167=)
|
rs2116044708
|
|
NM_000466.3(PEX1):c.3502G>A (p.Asp1168Asn)
|
|
|
NM_000466.3(PEX1):c.3503A>C (p.Asp1168Ala)
|
rs182452430
|
|
NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)
|
|
|
NM_000466.3(PEX1):c.3505_3517del (p.Gln1169fs)
|
rs727504076
|
|
NM_000466.3(PEX1):c.3513T>C (p.Phe1171=)
|
|
|
NM_000466.3(PEX1):c.3522T>G (p.Pro1174=)
|
rs1791183949
|
|
NM_000466.3(PEX1):c.3525A>G (p.Pro1175=)
|
rs1791183728
|
|
NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)
|
|
|
NM_000466.3(PEX1):c.3546A>G (p.Gln1182=)
|
rs886062502
|
|
NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter)
|
rs1057517480
|
|
NM_000466.3(PEX1):c.3549G>C (p.Glu1183Asp)
|
|
|
NM_000466.3(PEX1):c.3552T>C (p.Gly1184=)
|
rs1246785455
|
|
NM_000466.3(PEX1):c.3567A>C (p.Thr1189=)
|
rs2116043815
|
|
NM_000466.3(PEX1):c.3567A>G (p.Thr1189=)
|
|
|
NM_000466.3(PEX1):c.3568C>T (p.Gln1190Ter)
|
rs1281995042
|
|
NM_000466.3(PEX1):c.3572A>C (p.Glu1191Ala)
|
rs2116043736
|
|
NM_000466.3(PEX1):c.3573del (p.Glu1191fs)
|
rs1585211048
|
|
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)
|
rs1057517467
|
|
NM_000466.3(PEX1):c.3579del (p.Asp1194fs)
|
rs1554366802
|
|
NM_000466.3(PEX1):c.3580_3581del (p.Asp1194fs)
|
rs1160117945
|
|
NM_000466.3(PEX1):c.3582T>C (p.Asp1194=)
|
|
|
NM_000466.3(PEX1):c.3585A>T (p.Gln1195His)
|
|
|
NM_000466.3(PEX1):c.3588G>A (p.Leu1196=)
|
|
|
NM_000466.3(PEX1):c.3592del (p.Ala1198fs)
|
|
|
NM_000466.3(PEX1):c.3602G>A (p.Ser1201Asn)
|
rs1791175493
|
|
NM_000466.3(PEX1):c.3610A>G (p.Lys1204Glu)
|
|
|
NM_000466.3(PEX1):c.3617G>T (p.Arg1206Ile)
|
rs574785174
|
|
NM_000466.3(PEX1):c.3618A>G (p.Arg1206=)
|
|
|
NM_000466.3(PEX1):c.3622C>T (p.Arg1208Trp)
|
|
|
NM_000466.3(PEX1):c.3622del (p.Arg1208fs)
|
rs1791174009
|
|
NM_000466.3(PEX1):c.3624del (p.Ser1209fs)
|
|
|
NM_000466.3(PEX1):c.3626del (p.Ser1209fs)
|
rs1554366766
|
|
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=)
|
rs886062501
|
|
NM_000466.3(PEX1):c.3632G>A (p.Ser1211Asn)
|
|
|
NM_000466.3(PEX1):c.3634G>C (p.Gly1212Arg)
|
|
|
NM_000466.3(PEX1):c.3636+12T>C
|
|
|
NM_000466.3(PEX1):c.3636+14C>T
|
|
|
NM_000466.3(PEX1):c.3636+17C>A
|
|
|
NM_000466.3(PEX1):c.3636+19C>T
|
|
|
NM_000466.3(PEX1):c.3636+20A>G
|
|
|
NM_000466.3(PEX1):c.3636+6G>C
|
|
|
NM_000466.3(PEX1):c.3636+7C>T
|
rs761255965
|
|
NM_000466.3(PEX1):c.3637-15C>A
|
|
|
NM_000466.3(PEX1):c.3637-18T>C
|
|
|
NM_000466.3(PEX1):c.3637-19A>T
|
|
|
NM_000466.3(PEX1):c.3637-19del
|
|
|
NM_000466.3(PEX1):c.3637-1G>A
|
|
|
NM_000466.3(PEX1):c.3637-3_3637-1del
|
rs2116039871
|
|
NM_000466.3(PEX1):c.3637-6C>T
|
rs2116039914
|
|
NM_000466.3(PEX1):c.3637-8T>A
|
rs778635449
|
|
NM_000466.3(PEX1):c.3637-8T>C
|
|
|
NM_000466.3(PEX1):c.3637-8del
|
rs775743560
|
|
NM_000466.3(PEX1):c.3637-8dup
|
rs775743560
|
|
NM_000466.3(PEX1):c.3637-9T>C
|
rs1251346880
|
|
NM_000466.3(PEX1):c.3637-9T>G
|
|
|
NM_000466.3(PEX1):c.3639G>A (p.Glu1213=)
|
rs756953510
|
|
NM_000466.3(PEX1):c.3678A>G (p.Arg1226=)
|
|
|
NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)
|
|
|
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)
|
rs769836601
|
|
NM_000466.3(PEX1):c.3696A>G (p.Ser1232=)
|
rs2116039237
|
|
NM_000466.3(PEX1):c.3697C>T (p.His1233Tyr)
|
|
|
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu)
|
rs1473858573
|
|
NM_000466.3(PEX1):c.3722C>T (p.Thr1241Ile)
|
rs1791136903
|
|
NM_000466.3(PEX1):c.3723A>G (p.Thr1241=)
|
rs1048574377
|
|
NM_000466.3(PEX1):c.3726A>G (p.Arg1242=)
|
rs1585209870
|
|
NM_000466.3(PEX1):c.3732C>G (p.Ser1244=)
|
rs2116038940
|
|
NM_000466.3(PEX1):c.3732_3736dup (p.Ser1246fs)
|
rs1554366550
|
|
NM_000466.3(PEX1):c.3735T>C (p.Ile1245=)
|
|
|
NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)
|
rs553001596
|
|
NM_000466.3(PEX1):c.3767+11G>A
|
|
|
NM_000466.3(PEX1):c.3767+12A>T
|
|
|
NM_000466.3(PEX1):c.3767+15_3767+16del
|
|
|
NM_000466.3(PEX1):c.3767+16T>C
|
|
|
NM_000466.3(PEX1):c.3767+1_3767+2dup
|
rs1383361108
|
|
NM_000466.3(PEX1):c.3767+2T>C
|
|
|
NM_000466.3(PEX1):c.3767+9C>T
|
|
|
NM_000466.3(PEX1):c.3768-10C>A
|
|
|
NM_000466.3(PEX1):c.3768-10_3768-7del
|
|
|
NM_000466.3(PEX1):c.3768-11T>C
|
rs1585206248
|
|
NM_000466.3(PEX1):c.3768-12_3768-11del
|
|
|
NM_000466.3(PEX1):c.3768-14_3768-13del
|
|
|
NM_000466.3(PEX1):c.3768-16C>A
|
|
|
NM_000466.3(PEX1):c.3768-17T>A
|
|
|
NM_000466.3(PEX1):c.3768-1G>A
|
rs770868309
|
|
NM_000466.3(PEX1):c.3768-20T>A
|
|
|
NM_000466.3(PEX1):c.3768-22_3768-18del
|
|
|
NM_000466.3(PEX1):c.3768-2A>T
|
rs1554365998
|
|
NM_000466.3(PEX1):c.3768-4dup
|
rs1459472276
|
|
NM_000466.3(PEX1):c.3771T>C (p.Tyr1257=)
|
rs2116022961
|
|
NM_000466.3(PEX1):c.3774A>G (p.Glu1258=)
|
|
|
NM_000466.3(PEX1):c.3776G>C (p.Ser1259Thr)
|
|
|
NM_000466.3(PEX1):c.3781C>A (p.Gln1261Lys)
|
rs2116022906
|
|
NM_000466.3(PEX1):c.3783A>G (p.Gln1261=)
|
rs1790992143
|
|
NM_000466.3(PEX1):c.3788C>A (p.Pro1263Gln)
|
|
|
NM_000466.3(PEX1):c.3788C>G (p.Pro1263Arg)
|
|
|
NM_000466.3(PEX1):c.3792G>A (p.Lys1264=)
|
rs2116022815
|
|
NM_000466.3(PEX1):c.3803dup (p.Asn1268fs)
|
rs1293931061
|
|
NM_000466.3(PEX1):c.3807_3808dup (p.Ser1270fs)
|
rs758748151
|
|
NM_000466.3(PEX1):c.3808A>C (p.Ser1270Arg)
|
|
|
NM_000466.3(PEX1):c.3816A>G (p.Thr1272=)
|
|
|
NM_000466.3(PEX1):c.3828T>A (p.Pro1276=)
|
|
|
NM_000466.3(PEX1):c.3832C>A (p.Gln1278Lys)
|
rs750722718
|
|
NM_000466.3(PEX1):c.3840A>G (p.Val1280=)
|
rs2116022170
|
|
NM_000466.3(PEX1):c.3846A>G (p.Leu1282=)
|
rs2116022091
|
|
NM_000466.3(PEX1):c.3851A>G (p.Ter1284=)
|
rs957039229
|
|