NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_000287.4(PEX6):c.2663G>A (p.Arg888His)
|
rs267608247
|
0.00004
|
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.1992G>C (p.Glu664Asp)
|
rs267608230
|
0.00002
|
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln)
|
rs61753231
|
0.00002
|
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr)
|
rs374549180
|
0.00002
|
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs)
|
rs1408438094
|
0.00001
|
NM_000287.4(PEX6):c.1130+2T>C
|
rs1416001981
|
0.00001
|
NM_000287.4(PEX6):c.1231A>G (p.Met411Val)
|
rs752177240
|
0.00001
|
NM_000287.4(PEX6):c.1233+1G>A
|
rs763459576
|
0.00001
|
NM_000287.4(PEX6):c.1234-1G>T
|
rs1554127533
|
0.00001
|
NM_000287.4(PEX6):c.1287del (p.Trp430fs)
|
rs1258472160
|
0.00001
|
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)
|
rs61753225
|
0.00001
|
NM_000287.4(PEX6):c.1841del (p.Leu614fs)
|
rs863225083
|
0.00001
|
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser)
|
rs1244339215
|
0.00001
|
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)
|
rs267608239
|
0.00001
|
NM_000287.4(PEX6):c.2362+1G>A
|
rs1443107232
|
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.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)
|
rs1010184002
|
0.00001
|
NM_000287.4(PEX6):c.2806+1G>A
|
rs751900826
|
0.00001
|
NM_000287.4(PEX6):c.2875C>T (p.Gln959Ter)
|
rs1437291000
|
0.00001
|
NM_000287.4(PEX6):c.406_407insT (p.Pro136fs)
|
rs1561830903
|
0.00001
|
NM_000287.4(PEX6):c.1027del (p.Arg343fs)
|
rs1388178333
|
|
NM_000287.4(PEX6):c.1036C>T (p.Gln346Ter)
|
|
|
NM_000287.4(PEX6):c.1046+1G>A
|
rs1554127968
|
|
NM_000287.4(PEX6):c.1046+1G>T
|
|
|
NM_000287.4(PEX6):c.1046+1del
|
|
|
NM_000287.4(PEX6):c.1094del (p.Val365fs)
|
|
|
NM_000287.4(PEX6):c.1119del (p.Lys374fs)
|
|
|
NM_000287.4(PEX6):c.1127_1128del (p.Pro376fs)
|
|
|
NM_000287.4(PEX6):c.1130+1G>A
|
rs267608213
|
|
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
|
|
|
NM_000287.4(PEX6):c.1200C>G (p.Tyr400Ter)
|
|
|
NM_000287.4(PEX6):c.1202T>A (p.Leu401Ter)
|
rs886044436
|
|
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn)
|
rs886043987
|
|
NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)
|
|
|
NM_000287.4(PEX6):c.1233+2T>C
|
|
|
NM_000287.4(PEX6):c.1234-2A>G
|
rs2114247797
|
|
NM_000287.4(PEX6):c.1238del (p.Gly413fs)
|
|
|
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp)
|
rs771063294
|
|
NM_000287.4(PEX6):c.1315del (p.Glu439fs)
|
|
|
NM_000287.4(PEX6):c.1326dup (p.Ser443fs)
|
rs2114247458
|
|
NM_000287.4(PEX6):c.1338_1339del (p.Ala447fs)
|
rs398123303
|
|
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter)
|
rs1356280167
|
|
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)
|
rs1554127491
|
|
NM_000287.4(PEX6):c.1367+1G>A
|
rs1769988075
|
|
NM_000287.4(PEX6):c.1367+1G>T
|
|
|
NM_000287.4(PEX6):c.1367+2T>C
|
|
|
NM_000287.4(PEX6):c.1368-2del
|
rs1554127415
|
|
NM_000287.4(PEX6):c.1369_1370dup
|
|
|
NM_000287.4(PEX6):c.1373_1380del (p.Ala458fs)
|
|
|
NM_000287.4(PEX6):c.1402_1403del (p.Leu468fs)
|
|
|
NM_000287.4(PEX6):c.1415del (p.Pro472fs)
|
rs267608219
|
|
NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del)
|
rs1554127389
|
|
NM_000287.4(PEX6):c.1452T>A (p.Cys484Ter)
|
|
|
NM_000287.4(PEX6):c.1479+1G>A
|
|
|
NM_000287.4(PEX6):c.1479+2del
|
rs1554127383
|
|
NM_000287.4(PEX6):c.1500_1501del (p.Ala501fs)
|
|
|
NM_000287.4(PEX6):c.1522del (p.Glu508fs)
|
rs754684285
|
|
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln)
|
rs374396138
|
|
NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del)
|
rs1770436260
|
|
NM_000287.4(PEX6):c.1640_1641del (p.Val547fs)
|
|
|
NM_000287.4(PEX6):c.1689-1G>A
|
rs267608223
|
|
NM_000287.4(PEX6):c.1691del (p.Cys564fs)
|
rs2114242920
|
|
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro)
|
rs61752140
|
|
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)
|
rs61753224
|
|
NM_000287.4(PEX6):c.1774G>T (p.Glu592Ter)
|
rs375288192
|
|
NM_000287.4(PEX6):c.1797del (p.Gln600fs)
|
|
|
NM_000287.4(PEX6):c.1824del (p.Thr609fs)
|
|
|
NM_000287.4(PEX6):c.1881T>A (p.Cys627Ter)
|
|
|
NM_000287.4(PEX6):c.1884+1G>A
|
|
|
NM_000287.4(PEX6):c.1885-1G>A
|
|
|
NM_000287.4(PEX6):c.1933dup (p.Ala645fs)
|
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
NM_000287.4(PEX6):c.1963_1965delinsCT (p.Ala656fs)
|
|
|
NM_000287.4(PEX6):c.196G>T (p.Glu66Ter)
|
|
|
NM_000287.4(PEX6):c.2010del (p.Gly671fs)
|
|
|
NM_000287.4(PEX6):c.2020_2022delinsGTCTCTTATACACATCTGT (p.Leu674fs)
|
|
|
NM_000287.4(PEX6):c.2025_2035del (p.Ala676fs)
|
rs2114240428
|
|
NM_000287.4(PEX6):c.2041C>T (p.Gln681Ter)
|
|
|
NM_000287.4(PEX6):c.2050G>T (p.Glu684Ter)
|
|
|
NM_000287.4(PEX6):c.2074C>T (p.Gln692Ter)
|
rs201306028
|
|
NM_000287.4(PEX6):c.2082del (p.Gly695fs)
|
rs766483138
|
|
NM_000287.4(PEX6):c.2094+1G>A
|
rs1581760572
|
|
NM_000287.4(PEX6):c.2095-21_2095-10del
|
rs772869377
|
|
NM_000287.4(PEX6):c.2095-2A>G
|
|
|
NM_000287.4(PEX6):c.2124_2127del (p.Gly709fs)
|
|
|
NM_000287.4(PEX6):c.2154_2155del (p.Glu719fs)
|
|
|
NM_000287.4(PEX6):c.2165_2166del (p.Gln722fs)
|
|
|
NM_000287.4(PEX6):c.2227del (p.His743fs)
|
|
|
NM_000287.4(PEX6):c.2237del (p.Pro746fs)
|
|
|
NM_000287.4(PEX6):c.2265_2266insCTCCCCAGCCT (p.Ala756fs)
|
|
|
NM_000287.4(PEX6):c.2289del (p.Thr764fs)
|
|
|
NM_000287.4(PEX6):c.2300+2T>C
|
rs1581760028
|
|
NM_000287.4(PEX6):c.2313_2315delinsTGCCCCTCCCT (p.Glu772fs)
|
|
|
NM_000287.4(PEX6):c.2314G>T (p.Glu772Ter)
|
|
|
NM_000287.4(PEX6):c.2315del (p.Glu772fs)
|
|
|
NM_000287.4(PEX6):c.2361del (p.Val788fs)
|
|
|
NM_000287.4(PEX6):c.2363-2A>C
|
rs1769772582
|
|
NM_000287.4(PEX6):c.2363-2A>G
|
|
|
NM_000287.4(PEX6):c.2364_2365del
|
rs755716911
|
|
NM_000287.4(PEX6):c.2406del (p.Phe802fs)
|
rs1554126965
|
|
NM_000287.4(PEX6):c.2414_2417dup (p.Ser807fs)
|
|
|
NM_000287.4(PEX6):c.2422_2423del (p.Leu808fs)
|
|
|
NM_000287.4(PEX6):c.2429del (p.Pro810fs)
|
|
|
NM_000287.4(PEX6):c.2435_2436delinsAA (p.Arg812Gln)
|
rs2114238521
|
|
NM_000287.4(PEX6):c.2439del (p.Arg814fs)
|
rs1554126955
|
|
NM_000287.4(PEX6):c.2439dup (p.Arg814fs)
|
rs1554126955
|
|
NM_000287.4(PEX6):c.2462del (p.Val821fs)
|
|
|
NM_000287.4(PEX6):c.2471+1G>A
|
|
|
NM_000287.4(PEX6):c.2472-1G>A
|
|
|
NM_000287.4(PEX6):c.2472-2A>G
|
rs267608242
|
|
NM_000287.4(PEX6):c.2482C>T (p.Gln828Ter)
|
rs267608243
|
|
NM_000287.4(PEX6):c.2544del (p.Asn849fs)
|
rs2114237595
|
|
NM_000287.4(PEX6):c.254del (p.Ala85fs)
|
|
|
NM_000287.4(PEX6):c.2553_2560dup (p.Leu854fs)
|
|
|
NM_000287.4(PEX6):c.2563del (p.Asp855fs)
|
|
|
NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg)
|
|
|
NM_000287.4(PEX6):c.2589-1G>A
|
|
|
NM_000287.4(PEX6):c.2589-1G>T
|
rs2114237186
|
|
NM_000287.4(PEX6):c.2661_2662dup (p.Arg888fs)
|
|
|
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro)
|
rs267608247
|
|
NM_000287.4(PEX6):c.2666+1G>T
|
rs2114236937
|
|
NM_000287.4(PEX6):c.2667-2A>G
|
rs267608249
|
|
NM_000287.4(PEX6):c.2684dup (p.Val896fs)
|
|
|
NM_000287.4(PEX6):c.2692del (p.Leu898fs)
|
rs1554126798
|
|
NM_000287.4(PEX6):c.2702del (p.Val901fs)
|
rs1769688206
|
|
NM_000287.4(PEX6):c.2780_2783delinsTGACCAGGT (p.Lys927fs)
|
|
|
NM_000287.4(PEX6):c.292_296dup (p.Pro100fs)
|
|
|
NM_000287.4(PEX6):c.2T>G (p.Met1Arg)
|
rs1554128597
|
|
NM_000287.4(PEX6):c.311del (p.Gly104fs)
|
rs61753209
|
|
NM_000287.4(PEX6):c.35T>C (p.Phe12Ser)
|
rs61752139
|
|
NM_000287.4(PEX6):c.385_388del (p.Glu129fs)
|
rs1554128501
|
|
NM_000287.4(PEX6):c.386A>T (p.Glu129Val)
|
rs1561831003
|
|
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs)
|
rs1554128488
|
|
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs)
|
rs1554128586
|
|
NM_000287.4(PEX6):c.462del (p.Leu155fs)
|
rs1554128476
|
|
NM_000287.4(PEX6):c.500_501del (p.Cys167fs)
|
|
|
NM_000287.4(PEX6):c.506_507del (p.Glu169fs)
|
rs1554128461
|
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
|
NM_000287.4(PEX6):c.53del (p.Pro18fs)
|
|
|
NM_000287.4(PEX6):c.600del (p.Thr201fs)
|
|
|
NM_000287.4(PEX6):c.659G>T (p.Gly220Val)
|
rs267608203
|
|
NM_000287.4(PEX6):c.661G>T (p.Glu221Ter)
|
rs786205580
|
|
NM_000287.4(PEX6):c.668dup (p.Trp224fs)
|
|
|
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter)
|
rs61753215
|
|
NM_000287.4(PEX6):c.747G>A (p.Trp249Ter)
|
rs1770400284
|
|
NM_000287.4(PEX6):c.830T>A (p.Leu277Ter)
|
|
|
NM_000287.4(PEX6):c.837dup (p.Asn280Ter)
|
|
|
NM_000287.4(PEX6):c.872_873del (p.Leu291fs)
|
|
|
NM_000287.4(PEX6):c.883-2A>G
|
|
|
NM_000287.4(PEX6):c.883-6_887del
|
|
|
NM_000287.4(PEX6):c.890T>A (p.Leu297Ter)
|
|
|
NM_000287.4(PEX6):c.916_919del (p.Lys306fs)
|
rs2150236148
|
|
NM_000287.4(PEX6):c.929C>T (p.Ser310Leu)
|
rs2150236110
|
|
NM_000287.4(PEX6):c.954del (p.Arg319fs)
|
|
|
NM_000287.4(PEX6):c.959_960del (p.Glu320fs)
|
|
|
NM_000287.4(PEX6):c.993C>A (p.Tyr331Ter)
|
|
|