NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000466.3(PEX1):c.2926+1G>A
|
rs267608179
|
0.00006
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)
|
rs61750427
|
0.00003
|
NM_000466.3(PEX1):c.721del (p.Ser241fs)
|
rs894289737
|
0.00003
|
NM_000466.3(PEX1):c.1239+1G>T
|
rs756876301
|
0.00002
|
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter)
|
rs61750417
|
0.00002
|
NM_000466.3(PEX1):c.2730del (p.Leu910fs)
|
rs61750423
|
0.00002
|
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)
|
rs766020928
|
0.00002
|
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)
|
rs749067142
|
0.00002
|
NM_000466.3(PEX1):c.1126del (p.Glu376fs)
|
rs751829426
|
0.00001
|
NM_000466.3(PEX1):c.1795G>T (p.Gly599Ter)
|
rs1792222710
|
0.00001
|
NM_000466.3(PEX1):c.1A>T (p.Met1Leu)
|
rs1057517501
|
0.00001
|
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)
|
rs398123409
|
0.00001
|
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)
|
rs61750422
|
0.00001
|
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)
|
rs866184460
|
0.00001
|
NM_000466.3(PEX1):c.2926+2T>C
|
rs267608180
|
0.00001
|
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)
|
rs149806989
|
0.00001
|
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)
|
rs762679408
|
0.00001
|
NC_000007.13:g.(?_92116761)_(92136450_?)del
|
|
|
NC_000007.13:g.(?_92116771)_(92116875_?)del
|
|
|
NC_000007.13:g.(?_92126007)_(92126111_?)del
|
|
|
NC_000007.13:g.(?_92135552)_(92140371_?)del
|
|
|
NC_000007.13:g.(?_92135668)_(92140738_?)del
|
|
|
NC_000007.13:g.(?_92136298)_(92140371_?)del
|
|
|
NC_000007.13:g.(?_92143152)_(92143291_?)del
|
|
|
NC_000007.13:g.(?_92148299)_(92157759_?)del
|
|
|
NC_000007.14:g.(?_92489273)_(92491522_?)del
|
|
|
NC_000007.14:g.(?_92509319)_(92509421_?)del
|
|
|
NC_000007.14:g.92528411_92528711del
|
rs2116299216
|
|
NM_000466.3(PEX1):c.1012_1016del (p.Leu338fs)
|
rs2116243800
|
|
NM_000466.3(PEX1):c.1025del (p.Lys342fs)
|
|
|
NM_000466.3(PEX1):c.1027C>T (p.Gln343Ter)
|
|
|
NM_000466.3(PEX1):c.1048C>T (p.Gln350Ter)
|
|
|
NM_000466.3(PEX1):c.1076del (p.Lys359fs)
|
rs1057517465
|
|
NM_000466.3(PEX1):c.1099del (p.Gln367fs)
|
rs1403870448
|
|
NM_000466.3(PEX1):c.1108del (p.Ile370fs)
|
rs61750406
|
|
NM_000466.3(PEX1):c.1108dup (p.Ile370fs)
|
rs61750406
|
|
NM_000466.3(PEX1):c.1131del (p.Asp378fs)
|
rs886043479
|
|
NM_000466.3(PEX1):c.1163G>A (p.Trp388Ter)
|
rs1585254187
|
|
NM_000466.3(PEX1):c.1164G>A (p.Trp388Ter)
|
|
|
NM_000466.3(PEX1):c.1171_1183del (p.Leu391fs)
|
|
|
NM_000466.3(PEX1):c.1208del (p.Asn403fs)
|
rs1376037318
|
|
NM_000466.3(PEX1):c.1239G>A (p.Trp413Ter)
|
|
|
NM_000466.3(PEX1):c.1342C>T (p.Gln448Ter)
|
rs1467651370
|
|
NM_000466.3(PEX1):c.1375G>T (p.Glu459Ter)
|
|
|
NM_000466.3(PEX1):c.1393_1394del (p.Val465fs)
|
rs1164941642
|
|
NM_000466.3(PEX1):c.1411C>T (p.Gln471Ter)
|
rs758402265
|
|
NM_000466.3(PEX1):c.1422_1425del (p.Thr475fs)
|
|
|
NM_000466.3(PEX1):c.1456G>T (p.Glu486Ter)
|
rs2116209376
|
|
NM_000466.3(PEX1):c.1483+1G>A
|
rs1585244586
|
|
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs)
|
rs786204743
|
|
NM_000466.3(PEX1):c.1522dup (p.Glu508fs)
|
rs1057517463
|
|
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)
|
rs754983126
|
|
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
|
|
|
NM_000466.3(PEX1):c.1652dup (p.Leu551fs)
|
|
|
NM_000466.3(PEX1):c.1671_1672del
|
|
|
NM_000466.3(PEX1):c.1672G>T (p.Gly558Ter)
|
rs2116181877
|
|
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)
|
rs786204606
|
|
NM_000466.3(PEX1):c.1727dup (p.Arg577fs)
|
rs1585238595
|
|
NM_000466.3(PEX1):c.1728del (p.Arg577fs)
|
|
|
NM_000466.3(PEX1):c.1742_1756del (p.Arg581_Ser585del)
|
|
|
NM_000466.3(PEX1):c.1792del (p.Thr598fs)
|
rs886037783
|
|
NM_000466.3(PEX1):c.1817C>G (p.Ser606Ter)
|
rs1792186595
|
|
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)
|
rs1554372561
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
NM_000466.3(PEX1):c.1855A>T (p.Lys619Ter)
|
|
|
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)
|
rs1398892633
|
|
NM_000466.3(PEX1):c.1891del (p.Ala631fs)
|
rs2075434480
|
|
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)
|
rs61750409
|
|
NM_000466.3(PEX1):c.1897del (p.Arg633fs)
|
|
|
NM_000466.3(PEX1):c.1908del (p.Arg636fs)
|
rs1057517478
|
|
NM_000466.3(PEX1):c.1916dup (p.Asn639fs)
|
rs2116166262
|
|
NM_000466.3(PEX1):c.1927del (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1927dup (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1955del (p.Val652fs)
|
rs2116165935
|
|
NM_000466.3(PEX1):c.1963C>T (p.Gln655Ter)
|
rs2116165809
|
|
NM_000466.3(PEX1):c.1A>C (p.Met1Leu)
|
rs1057517501
|
|
NM_000466.3(PEX1):c.2001dup (p.Ala668fs)
|
|
|
NM_000466.3(PEX1):c.2034_2035del (p.His678fs)
|
rs61750412
|
|
NM_000466.3(PEX1):c.2039del (p.Pro680fs)
|
rs1269903353
|
|
NM_000466.3(PEX1):c.2050C>T (p.Gln684Ter)
|
|
|
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
|
|
|
NM_000466.3(PEX1):c.2083_2084del (p.Met695fs)
|
rs2116156265
|
|
NM_000466.3(PEX1):c.2085_2089del (p.Met695fs)
|
rs267608178
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)
|
rs1057517468
|
|
NM_000466.3(PEX1):c.2146C>T (p.Gln716Ter)
|
|
|
NM_000466.3(PEX1):c.2162T>A (p.Leu721Ter)
|
rs1792013985
|
|
NM_000466.3(PEX1):c.2164del (p.Val723fs)
|
rs1792013807
|
|
NM_000466.3(PEX1):c.2175_2176del (p.Gln726fs)
|
|
|
NM_000466.3(PEX1):c.2176C>T (p.Gln726Ter)
|
rs786205655
|
|
NM_000466.3(PEX1):c.2234del (p.Arg745fs)
|
|
|
NM_000466.3(PEX1):c.2268dup (p.Leu757fs)
|
|
|
NM_000466.3(PEX1):c.2308C>T (p.Gln770Ter)
|
|
|
NM_000466.3(PEX1):c.2330_2331delinsA (p.Gly777fs)
|
rs1791951634
|
|
NM_000466.3(PEX1):c.2361del (p.Val788fs)
|
|
|
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)
|
rs61750414
|
|
NM_000466.3(PEX1):c.2396dup (p.Ser800fs)
|
rs778871894
|
|
NM_000466.3(PEX1):c.2416+1G>A
|
|
|
NM_000466.3(PEX1):c.2420T>A (p.Leu807Ter)
|
|
|
NM_000466.3(PEX1):c.2464_2477dup (p.Leu826fs)
|
rs1463323645
|
|
NM_000466.3(PEX1):c.2468del (p.Pro823fs)
|
rs766947924
|
|
NM_000466.3(PEX1):c.2471del (p.Ala824fs)
|
rs1585231093
|
|
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter)
|
rs1232449804
|
|
NM_000466.3(PEX1):c.2480del (p.Arg827fs)
|
|
|
NM_000466.3(PEX1):c.249del (p.Lys83fs)
|
rs1793076317
|
|
NM_000466.3(PEX1):c.2516G>A (p.Trp839Ter)
|
rs2116145324
|
|
NM_000466.3(PEX1):c.2550dup (p.Ile851fs)
|
rs2116145117
|
|
NM_000466.3(PEX1):c.2582del (p.Lys861fs)
|
|
|
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)
|
rs886043984
|
|
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)
|
rs1057517485
|
|
NM_000466.3(PEX1):c.2692_2693del (p.Glu897_Ser898insTer)
|
rs2116132444
|
|
NM_000466.3(PEX1):c.269del (p.Gly90fs)
|
rs1275822594
|
|
NM_000466.3(PEX1):c.2738_2741dup (p.Tyr914Ter)
|
rs2116110975
|
|
NM_000466.3(PEX1):c.2760del (p.Ala921fs)
|
rs1256376226
|
|
NM_000466.3(PEX1):c.2783+1del
|
|
|
NM_000466.3(PEX1):c.2788C>T (p.Gln930Ter)
|
|
|
NM_000466.3(PEX1):c.2798dup (p.Pro934fs)
|
rs1057517484
|
|
NM_000466.3(PEX1):c.2816_2817del (p.Phe938_Phe939insTer)
|
rs1791555145
|
|
NM_000466.3(PEX1):c.2852dup (p.His951fs)
|
rs767877383
|
|
NM_000466.3(PEX1):c.2859dup (p.Thr954fs)
|
rs1057517472
|
|
NM_000466.3(PEX1):c.2861_2862dup (p.Gly955fs)
|
|
|
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)
|
rs1057517481
|
|
NM_000466.3(PEX1):c.2915_2916dup (p.Gly973fs)
|
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
NM_000466.3(PEX1):c.2922del (p.Leu974fs)
|
rs762324548
|
|
NM_000466.3(PEX1):c.2926+1del
|
rs1791544171
|
|
NM_000466.3(PEX1):c.2977dup (p.Leu993fs)
|
rs2116091859
|
|
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)
|
rs61750428
|
|
NM_000466.3(PEX1):c.2T>G (p.Met1Arg)
|
rs766020928
|
|
NM_000466.3(PEX1):c.3003dup (p.Cys1002fs)
|
rs1562847911
|
|
NM_000466.3(PEX1):c.3005_3011dup (p.Tyr1004Ter)
|
rs2116091512
|
|
NM_000466.3(PEX1):c.3037C>T (p.Arg1013Cys)
|
rs1791439311
|
|
NM_000466.3(PEX1):c.3068_3071del (p.Ser1023fs)
|
|
|
NM_000466.3(PEX1):c.3070_3071del (p.Leu1024fs)
|
rs1312351030
|
|
NM_000466.3(PEX1):c.3094dup (p.Leu1032fs)
|
|
|
NM_000466.3(PEX1):c.3115del (p.Thr1039fs)
|
rs1562846257
|
|
NM_000466.3(PEX1):c.3118_3121del (p.Asp1040fs)
|
|
|
NM_000466.3(PEX1):c.3152_3156del (p.Leu1051fs)
|
rs2116077430
|
|
NM_000466.3(PEX1):c.3158dup (p.Asn1053fs)
|
rs2116077400
|
|
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs)
|
rs61750430
|
|
NM_000466.3(PEX1):c.3205C>T (p.Gln1069Ter)
|
rs1562846113
|
|
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.3301G>T (p.Glu1101Ter)
|
rs2116059303
|
|
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)
|
rs886043558
|
|
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)
|
rs1585214453
|
|
NM_000466.3(PEX1):c.3400dup (p.Tyr1134fs)
|
|
|
NM_000466.3(PEX1):c.3409G>T (p.Glu1137Ter)
|
|
|
NM_000466.3(PEX1):c.3450T>A (p.Cys1150Ter)
|
rs1459743428
|
|
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs)
|
rs759183382
|
|
NM_000466.3(PEX1):c.34G>T (p.Gly12Ter)
|
rs1793402720
|
|
NM_000466.3(PEX1):c.3505C>T (p.Gln1169Ter)
|
|
|
NM_000466.3(PEX1):c.3505_3517del (p.Gln1169fs)
|
rs727504076
|
|
NM_000466.3(PEX1):c.3530dup (p.Leu1177fs)
|
|
|
NM_000466.3(PEX1):c.357+1G>T
|
rs866144313
|
|
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)
|
rs1057517467
|
|
NM_000466.3(PEX1):c.3592del (p.Ala1198fs)
|
|
|
NM_000466.3(PEX1):c.3622del (p.Arg1208fs)
|
rs1791174009
|
|
NM_000466.3(PEX1):c.3624del (p.Ser1209fs)
|
|
|
NM_000466.3(PEX1):c.3691C>T (p.Gln1231Ter)
|
|
|
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)
|
rs769836601
|
|
NM_000466.3(PEX1):c.3767+2T>C
|
|
|
NM_000466.3(PEX1):c.3G>A (p.Met1Ile)
|
rs786204704
|
|
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)
|
rs201415996
|
|
NM_000466.3(PEX1):c.43del (p.Ala15fs)
|
|
|
NM_000466.3(PEX1):c.46del (p.Ala16fs)
|
|
|
NM_000466.3(PEX1):c.538_541dup (p.Thr181fs)
|
rs1792878019
|
|
NM_000466.3(PEX1):c.556G>T (p.Glu186Ter)
|
|
|
NM_000466.3(PEX1):c.568del (p.Ser190fs)
|
|
|
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)
|
rs1554375599
|
|
NM_000466.3(PEX1):c.56_57del (p.Val19fs)
|
|
|
NM_000466.3(PEX1):c.56_80del (p.Val19fs)
|
rs1793398751
|
|
NM_000466.3(PEX1):c.607G>T (p.Gly203Ter)
|
rs1472300213
|
|
NM_000466.3(PEX1):c.643_647del (p.Thr215fs)
|
rs786204544
|
|
NM_000466.3(PEX1):c.651dup (p.Leu218fs)
|
|
|
NM_000466.3(PEX1):c.657_660del (p.Ser220fs)
|
rs786205656
|
|
NM_000466.3(PEX1):c.786_787del (p.Glu262fs)
|
rs2116245705
|
|
NM_000466.3(PEX1):c.788_789del (p.Thr263fs)
|
rs61750404
|
|
NM_000466.3(PEX1):c.794G>A (p.Trp265Ter)
|
|
|
NM_000466.3(PEX1):c.819_835delinsGTCT (p.Phe273fs)
|
rs1792860966
|
|
NM_000466.3(PEX1):c.821_824del (p.Lys274fs)
|
|
|
NM_000466.3(PEX1):c.831_834del (p.Ser278fs)
|
rs2116245323
|
|
NM_000466.3(PEX1):c.833C>G (p.Ser278Ter)
|
|
|
NM_000466.3(PEX1):c.877C>T (p.Gln293Ter)
|
|
|
NM_000466.3(PEX1):c.894del (p.Ile297_Tyr298insTer)
|
|
|
NM_000466.3(PEX1):c.8dup (p.Ser4fs)
|
|
|
NM_000466.3(PEX1):c.911_912del (p.Ser304fs)
|
rs786204638
|
|
NM_000466.3(PEX1):c.912dup (p.Val305fs)
|
|
|
NM_000466.3(PEX1):c.951G>A (p.Trp317Ter)
|
|
|
NM_000466.3(PEX1):c.955C>T (p.Gln319Ter)
|
rs2116244185
|
|
NM_000466.3(PEX1):c.995_996del (p.Tyr332fs)
|
|
|