NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_000287.4(PEX6):c.1941C>A (p.Cys647Ter)
|
rs781475201
|
0.00003
|
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
|
rs62641232
|
0.00003
|
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)
|
rs61753219
|
0.00003
|
NM_000287.4(PEX6):c.1962-1G>A
|
rs267608229
|
0.00002
|
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)
|
rs267608241
|
0.00002
|
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs)
|
rs1408438094
|
0.00001
|
NM_000287.4(PEX6):c.1287del (p.Trp430fs)
|
rs1258472160
|
0.00001
|
NM_000287.4(PEX6):c.1313dup (p.Glu439fs)
|
rs770055192
|
0.00001
|
NM_000287.4(PEX6):c.1798C>T (p.Gln600Ter)
|
rs1769875600
|
0.00001
|
NM_000287.4(PEX6):c.1841del (p.Leu614fs)
|
rs863225083
|
0.00001
|
NM_000287.4(PEX6):c.2205del (p.Arg736fs)
|
rs1197432552
|
0.00001
|
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)
|
rs267608239
|
0.00001
|
NM_000287.4(PEX6):c.2362G>A (p.Val788Met)
|
rs267608240
|
0.00001
|
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)
|
rs61753229
|
0.00001
|
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val)
|
rs764227040
|
0.00001
|
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)
|
rs1010184002
|
0.00001
|
NM_000287.4(PEX6):c.510_511del (p.Asp172fs)
|
rs61753211
|
0.00001
|
NM_000287.4(PEX6):c.517del (p.Ser173fs)
|
rs61753212
|
0.00001
|
NM_000287.4(PEX6):c.611C>G (p.Ser204Ter)
|
rs773056086
|
0.00001
|
NC_000006.11:g.(?_42941721)_(42942796_?)del
|
|
|
NC_000006.11:g.(?_42942593)_(42946888_?)del
|
|
|
NC_000006.12:g.(?_42968280)_(42979253_?)del
|
|
|
NC_000006.12:g.(?_42974865)_(42975048_?)del
|
|
|
NC_000006.12:g.42965156_42965157insTTTTTTTTTTTTTTTTTNNNNNNNNNNAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAGCTTGTCAAATCTTT
|
|
|
NM_000287.4(PEX6):c.1027del (p.Arg343fs)
|
rs1388178333
|
|
NM_000287.4(PEX6):c.1036C>T (p.Gln346Ter)
|
|
|
NM_000287.4(PEX6):c.1054C>T (p.Gln352Ter)
|
rs267608212
|
|
NM_000287.4(PEX6):c.1072del (p.Cys358fs)
|
|
|
NM_000287.4(PEX6):c.1074T>A (p.Cys358Ter)
|
rs1478799269
|
|
NM_000287.4(PEX6):c.1098_1099del (p.Glu366fs)
|
rs1189098622
|
|
NM_000287.4(PEX6):c.10_216delinsCCACCCGGGGGCCCGTGGCCGGCGGCGGAGCTGGGCCTGGTGCTGGCCCTGAGGC (p.Ala4fs)
|
rs2150240574
|
|
NM_000287.4(PEX6):c.1109_1112del (p.Gly370fs)
|
rs2150234919
|
|
NM_000287.4(PEX6):c.1130+1G>A
|
rs267608213
|
|
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
|
|
|
NM_000287.4(PEX6):c.1138dup (p.Glu380fs)
|
rs2114248372
|
|
NM_000287.4(PEX6):c.1149_1150insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGGAAATGTTTTTT (p.Lys384delinsPhePhePhePhePhePheXaaXaaXaaXaaProProProSerArgThrGlyArgLeuAlaArgArgGlyGlyGlyTer)
|
|
|
NM_000287.4(PEX6):c.1156A>T (p.Lys386Ter)
|
rs2114248288
|
|
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter)
|
rs886044436
|
|
NM_000287.4(PEX6):c.1216dup (p.His406fs)
|
rs2114248084
|
|
NM_000287.4(PEX6):c.1263G>A (p.Trp421Ter)
|
|
|
NM_000287.4(PEX6):c.1276G>T (p.Glu426Ter)
|
|
|
NM_000287.4(PEX6):c.1301del (p.Ser434fs)
|
rs62641231
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
NM_000287.4(PEX6):c.1326dup (p.Ser443fs)
|
rs2114247458
|
|
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs)
|
rs398123303
|
|
NM_000287.4(PEX6):c.1352del (p.Pro451fs)
|
|
|
NM_000287.4(PEX6):c.1357del (p.Leu453fs)
|
rs2114247385
|
|
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)
|
rs1554127491
|
|
NM_000287.4(PEX6):c.1404del (p.Arg469fs)
|
rs267608218
|
|
NM_000287.4(PEX6):c.1406_1474del (p.Arg469_Leu491del)
|
|
|
NM_000287.4(PEX6):c.1409G>C (p.Gly470Ala)
|
rs1561823098
|
|
NM_000287.4(PEX6):c.1415del (p.Pro472fs)
|
rs267608219
|
|
NM_000287.4(PEX6):c.1415dup (p.Gly473fs)
|
|
|
NM_000287.4(PEX6):c.1504G>T (p.Glu502Ter)
|
|
|
NM_000287.4(PEX6):c.1522del (p.Glu508fs)
|
rs754684285
|
|
NM_000287.4(PEX6):c.1573dup (p.Val525fs)
|
rs2114244815
|
|
NM_000287.4(PEX6):c.1586_1587dup (p.Ala530fs)
|
|
|
NM_000287.4(PEX6):c.1601T>C (p.Leu534Pro)
|
rs387906809
|
|
NM_000287.4(PEX6):c.1681del (p.Leu561fs)
|
rs1200299979
|
|
NM_000287.4(PEX6):c.1688+1G>A
|
rs112298166
|
|
NM_000287.4(PEX6):c.1688+1G>T
|
rs112298166
|
|
NM_000287.4(PEX6):c.1690_1693dup (p.Pro565fs)
|
rs2114242907
|
|
NM_000287.4(PEX6):c.1691del (p.Cys564fs)
|
rs2114242920
|
|
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)
|
rs61753224
|
|
NM_000287.4(PEX6):c.1750C>T (p.Gln584Ter)
|
|
|
NM_000287.4(PEX6):c.1774G>T (p.Glu592Ter)
|
rs375288192
|
|
NM_000287.4(PEX6):c.1782_1807dup (p.Ser603fs)
|
rs2114242538
|
|
NM_000287.4(PEX6):c.1790C>G (p.Ser597Ter)
|
|
|
NM_000287.4(PEX6):c.1805del (p.Leu602fs)
|
rs2114242547
|
|
NM_000287.4(PEX6):c.1891del (p.Val631fs)
|
rs2114241031
|
|
NM_000287.4(PEX6):c.1908T>A (p.Tyr636Ter)
|
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
NM_000287.4(PEX6):c.1996G>T (p.Glu666Ter)
|
rs1769818844
|
|
NM_000287.4(PEX6):c.1A>G (p.Met1Val)
|
|
|
NM_000287.4(PEX6):c.1A>T (p.Met1Leu)
|
|
|
NM_000287.4(PEX6):c.2010del (p.Gly671fs)
|
|
|
NM_000287.4(PEX6):c.2063del (p.Thr688fs)
|
|
|
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter)
|
rs201306028
|
|
NM_000287.4(PEX6):c.2082del (p.Gly695fs)
|
rs766483138
|
|
NM_000287.4(PEX6):c.2094G>A (p.Lys698=)
|
|
|
NM_000287.4(PEX6):c.2095-21_2095-10del
|
rs772869377
|
|
NM_000287.4(PEX6):c.2120dup (p.Gly709fs)
|
|
|
NM_000287.4(PEX6):c.212del (p.Pro71fs)
|
rs2150240582
|
|
NM_000287.4(PEX6):c.217C>T (p.Gln73Ter)
|
|
|
NM_000287.4(PEX6):c.2244del (p.Gly749fs)
|
|
|
NM_000287.4(PEX6):c.2276_2277del (p.Thr759fs)
|
|
|
NM_000287.4(PEX6):c.2315del (p.Glu772fs)
|
|
|
NM_000287.4(PEX6):c.2364_2365del
|
rs755716911
|
|
NM_000287.4(PEX6):c.237_238del (p.Leu80fs)
|
rs1178535907
|
|
NM_000287.4(PEX6):c.2398_2417delinsT (p.Ile800fs)
|
rs62653602
|
|
NM_000287.4(PEX6):c.2410G>T (p.Glu804Ter)
|
|
|
NM_000287.4(PEX6):c.2434del (p.Arg812fs)
|
|
|
NM_000287.4(PEX6):c.2439del (p.Arg814fs)
|
rs1554126955
|
|
NM_000287.4(PEX6):c.2470del (p.Arg824fs)
|
rs2114238399
|
|
NM_000287.4(PEX6):c.2518C>T (p.Gln840Ter)
|
|
|
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)
|
rs61753230
|
|
NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)
|
|
|
NM_000287.4(PEX6):c.2667-2A>C
|
rs267608249
|
|
NM_000287.4(PEX6):c.2722C>T (p.Gln908Ter)
|
rs2114236416
|
|
NM_000287.4(PEX6):c.2754_2758del (p.Cys918_Asp920delinsTer)
|
rs2114236281
|
|
NM_000287.4(PEX6):c.286_289del (p.Ala96fs)
|
|
|
NM_000287.4(PEX6):c.2T>C (p.Met1Thr)
|
rs1554128597
|
|
NM_000287.4(PEX6):c.311del (p.Gly104fs)
|
rs61753209
|
|
NM_000287.4(PEX6):c.315G>A (p.Trp105Ter)
|
|
|
NM_000287.4(PEX6):c.371T>C (p.Leu124Pro)
|
rs1770427781
|
|
NM_000287.4(PEX6):c.385_388del (p.Glu129fs)
|
rs1554128501
|
|
NM_000287.4(PEX6):c.392_395del (p.Leu131fs)
|
|
|
NM_000287.4(PEX6):c.402del (p.Gly135fs)
|
|
|
NM_000287.4(PEX6):c.427_485del (p.Pro143fs)
|
|
|
NM_000287.4(PEX6):c.503_504del (p.Pro168fs)
|
|
|
NM_000287.4(PEX6):c.506_507del (p.Glu169fs)
|
rs1554128461
|
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
|
NM_000287.4(PEX6):c.514del (p.Asp172fs)
|
|
|
NM_000287.4(PEX6):c.514dup (p.Asp172fs)
|
rs2150239907
|
|
NM_000287.4(PEX6):c.530del (p.Pro177fs)
|
|
|
NM_000287.4(PEX6):c.531del (p.Pro179fs)
|
rs2150239870
|
|
NM_000287.4(PEX6):c.573_882+237delinsTGGTCA
|
|
|
NM_000287.4(PEX6):c.621_882+2del
|
rs1554128347
|
|
NM_000287.4(PEX6):c.630del (p.Cys211fs)
|
rs2150239689
|
|
NM_000287.4(PEX6):c.655C>T (p.Gln219Ter)
|
|
|
NM_000287.4(PEX6):c.655del (p.Gln219fs)
|
|
|
NM_000287.4(PEX6):c.656del (p.Gln219fs)
|
rs267608202
|
|
NM_000287.4(PEX6):c.668dup (p.Trp224fs)
|
|
|
NM_000287.4(PEX6):c.671G>A (p.Trp224Ter)
|
|
|
NM_000287.4(PEX6):c.689_690del (p.Glu230fs)
|
rs398123305
|
|
NM_000287.4(PEX6):c.689_690dup (p.Ser232fs)
|
rs398123305
|
|
NM_000287.4(PEX6):c.692C>G (p.Ser231Ter)
|
|
|
NM_000287.4(PEX6):c.698del (p.Asn233fs)
|
|
|
NM_000287.4(PEX6):c.706C>T (p.Gln236Ter)
|
rs779526175
|
|
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter)
|
rs61753215
|
|
NM_000287.4(PEX6):c.738_741del (p.Glu246fs)
|
rs2150239487
|
|
NM_000287.4(PEX6):c.740dup (p.Arg248fs)
|
|
|
NM_000287.4(PEX6):c.746G>A (p.Trp249Ter)
|
|
|
NM_000287.4(PEX6):c.747G>A (p.Trp249Ter)
|
rs1770400284
|
|
NM_000287.4(PEX6):c.755_756del (p.Leu251_Ser252insTer)
|
|
|
NM_000287.4(PEX6):c.802_815del (p.Asp268fs)
|
rs63749004
|
|
NM_000287.4(PEX6):c.814_817dup (p.Val273fs)
|
rs367543282
|
|
NM_000287.4(PEX6):c.831_834del (p.Leu277fs)
|
|
|
NM_000287.4(PEX6):c.856del (p.Leu286fs)
|
rs267608205
|
|
NM_000287.4(PEX6):c.87G>A (p.Trp29Ter)
|
|
|
NM_000287.4(PEX6):c.882+1G>A
|
rs267608207
|
|
NM_000287.4(PEX6):c.896del (p.Gly299fs)
|
|
|
NM_000287.4(PEX6):c.909del (p.Glu304fs)
|
|
|
NM_000287.4(PEX6):c.914_923del (p.Asp305fs)
|
rs1364614470
|
|
NM_000287.4(PEX6):c.916_919del (p.Lys306fs)
|
rs2150236148
|
|
NM_000287.4(PEX6):c.959_960del (p.Glu320fs)
|
|
|
NM_000287.4(PEX6):c.993C>A (p.Tyr331Ter)
|
|
|