NM_000466.3(PEX1):c.2331C>A (p.Gly777=)
|
rs10278857
|
0.93013
|
NM_000466.3(PEX1):c.1804-144A>T
|
rs6465359
|
0.91679
|
NM_000466.3(PEX1):c.1359+155C>A
|
rs38807
|
0.87539
|
NM_000466.3(PEX1):c.358-15G>A
|
rs38809
|
0.86650
|
NM_000466.3(PEX1):c.2584-245A>T
|
rs10953071
|
0.86496
|
NM_000466.3(PEX1):c.1670+219T>C
|
rs11767684
|
0.31565
|
NM_000466.3(PEX1):c.1484-36G>A
|
rs2111200
|
0.25489
|
NM_000466.3(PEX1):c.1671-314C>T
|
rs7791858
|
0.24006
|
NM_000466.3(PEX1):c.2718+183C>A
|
rs10269874
|
0.12962
|
NM_000466.3(PEX1):c.1804-28G>A
|
rs10236856
|
0.07802
|
NM_000466.3(PEX1):c.1803+235A>G
|
rs7809455
|
0.05706
|
NM_000466.3(PEX1):c.2417-42T>C
|
rs3213609
|
0.05567
|
NM_000466.3(PEX1):c.2719-244G>A
|
rs73710409
|
0.05413
|
NM_000466.3(PEX1):c.358-11G>C
|
rs113104510
|
0.04153
|
NM_000466.3(PEX1):c.1240-279G>A
|
rs112904813
|
0.04145
|
NM_000466.3(PEX1):c.473-18G>A
|
rs2066743
|
0.03344
|
NM_000466.3(PEX1):c.1360-209G>A
|
rs6946364
|
0.03237
|
NM_000466.3(PEX1):c.1360-336A>C
|
rs61492841
|
0.02935
|
NM_000466.3(PEX1):c.2718+134A>G
|
rs76587269
|
0.02817
|
NM_000466.3(PEX1):c.2584-20T>A
|
rs111535201
|
0.02687
|
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)
|
rs35996821
|
0.02553
|
NM_000466.3(PEX1):c.2226+139A>G
|
rs111474000
|
0.01659
|
NM_000466.3(PEX1):c.1671-7T>C
|
rs74519968
|
0.01312
|
NM_000466.3(PEX1):c.1239+161C>G
|
rs113848550
|
0.00886
|
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser)
|
rs138183109
|
0.00874
|
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)
|
rs112822975
|
0.00803
|
NM_000466.3(PEX1):c.1484-106A>G
|
rs200489532
|
0.00720
|
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
NM_000466.3(PEX1):c.934A>G (p.Ile312Val)
|
rs146312634
|
0.00223
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
NM_000466.3(PEX1):c.473-3C>T
|
rs150576000
|
0.00213
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu)
|
rs141764012
|
0.00066
|
NM_000466.3(PEX1):c.645C>G (p.Thr215=)
|
rs151041559
|
0.00066
|
NM_000466.3(PEX1):c.1360-4G>T
|
rs199716270
|
0.00038
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
NM_000466.3(PEX1):c.1360-7C>T
|
rs371890000
|
0.00029
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=)
|
rs201719745
|
0.00022
|
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val)
|
rs145350631
|
0.00021
|
NM_000466.3(PEX1):c.2584-9G>T
|
rs370692491
|
0.00020
|
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)
|
rs141510219
|
0.00016
|
NM_000466.3(PEX1):c.293C>T (p.Ser98Phe)
|
rs369100815
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn)
|
rs143273433
|
0.00014
|
NM_000466.3(PEX1):c.159C>T (p.His53=)
|
rs200950057
|
0.00014
|
NM_000466.3(PEX1):c.1271T>C (p.Ile424Thr)
|
rs201807430
|
0.00013
|
NM_000466.3(PEX1):c.891A>G (p.Ile297Met)
|
rs143206380
|
0.00013
|
NM_000466.3(PEX1):c.1587+5T>C
|
rs199526105
|
0.00011
|
NM_000466.3(PEX1):c.1815A>G (p.Lys605=)
|
rs112688556
|
0.00011
|
NM_000466.3(PEX1):c.2060G>A (p.Arg687Gln)
|
rs201443294
|
0.00011
|
NM_000466.3(PEX1):c.2509C>T (p.Leu837=)
|
rs371701421
|
0.00010
|
NM_000466.3(PEX1):c.2021C>T (p.Pro674Leu)
|
rs141509344
|
0.00007
|
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala)
|
rs371309198
|
0.00006
|
NM_000466.3(PEX1):c.1256G>A (p.Arg419Lys)
|
rs748937542
|
0.00006
|
NM_000466.3(PEX1):c.1284C>T (p.Ala428=)
|
rs145153467
|
0.00006
|
NM_000466.3(PEX1):c.2750C>T (p.Ala917Val)
|
rs371327573
|
0.00006
|
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn)
|
rs372485912
|
0.00006
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
NM_000466.3(PEX1):c.147G>A (p.Val49=)
|
rs202230667
|
0.00005
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
NM_000466.3(PEX1):c.2124G>C (p.Leu708=)
|
rs200258130
|
0.00004
|
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)
|
rs374010060
|
0.00004
|
NM_000466.3(PEX1):c.2675G>A (p.Gly892Glu)
|
rs769356901
|
0.00004
|
NM_000466.3(PEX1):c.611G>A (p.Arg204Lys)
|
rs369126779
|
0.00004
|
NM_000466.3(PEX1):c.1283C>T (p.Ala428Val)
|
rs376883207
|
0.00003
|
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala)
|
rs775544654
|
0.00003
|
NM_000466.3(PEX1):c.2268A>G (p.Lys756=)
|
rs1434174453
|
0.00003
|
NM_000466.3(PEX1):c.254G>A (p.Gly85Glu)
|
rs771224088
|
0.00003
|
NM_000466.3(PEX1):c.2646G>A (p.Pro882=)
|
rs775421085
|
0.00003
|
NM_000466.3(PEX1):c.721del (p.Ser241fs)
|
rs894289737
|
0.00003
|
NM_000466.3(PEX1):c.889A>G (p.Ile297Val)
|
rs181796768
|
0.00003
|
NM_000466.3(PEX1):c.1239+1G>T
|
rs756876301
|
0.00002
|
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val)
|
rs759491353
|
0.00002
|
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)
|
rs398123408
|
0.00002
|
NM_000466.3(PEX1):c.2730del (p.Leu910fs)
|
rs61750423
|
0.00002
|
NM_000466.3(PEX1):c.357G>A (p.Leu119=)
|
rs1485077349
|
0.00002
|
NM_000466.3(PEX1):c.665C>T (p.Thr222Ile)
|
rs773922257
|
0.00002
|
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)
|
rs749067142
|
0.00002
|
NM_000466.3(PEX1):c.1187A>G (p.Asn396Ser)
|
rs398123407
|
0.00001
|
NM_000466.3(PEX1):c.1199A>T (p.Tyr400Phe)
|
rs772086409
|
0.00001
|
NM_000466.3(PEX1):c.1407G>T (p.Trp469Cys)
|
rs746349696
|
0.00001
|
NM_000466.3(PEX1):c.1412A>G (p.Gln471Arg)
|
rs1219227236
|
0.00001
|
NM_000466.3(PEX1):c.1507A>G (p.Ile503Val)
|
rs771520057
|
0.00001
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
NM_000466.3(PEX1):c.2071+1G>T
|
rs267608177
|
0.00001
|
NM_000466.3(PEX1):c.2084T>C (p.Met695Thr)
|
rs112747515
|
0.00001
|
NM_000466.3(PEX1):c.2195A>G (p.Gln732Arg)
|
rs147069266
|
0.00001
|
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)
|
rs398123409
|
0.00001
|
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala)
|
rs886062505
|
0.00001
|
NM_000466.3(PEX1):c.2375T>C (p.Ile792Thr)
|
rs747899377
|
0.00001
|
NM_000466.3(PEX1):c.2408C>T (p.Thr803Ile)
|
rs750911436
|
0.00001
|
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)
|
rs61750422
|
0.00001
|
NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser)
|
rs1362906637
|
0.00001
|
NM_000466.3(PEX1):c.2687G>A (p.Arg896Gln)
|
rs748798206
|
0.00001
|
NM_000466.3(PEX1):c.282C>G (p.Leu94=)
|
rs201368809
|
0.00001
|
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del)
|
rs754890130
|
0.00001
|
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg)
|
rs886062506
|
0.00001
|
GRCh37/hg19 7q21.2(chr7:92119403-92149555)x3
|
|
|
NM_000466.2(PEX1):c.2010_2018del (p.Ala672_Pro674del)
|
rs1357462196
|
|
NM_000466.3(PEX1):c.1070A>C (p.Lys357Thr)
|
rs2116243553
|
|
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn)
|
rs138905930
|
|
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.1111A>T (p.Arg371Trp)
|
rs769973410
|
|
NM_000466.3(PEX1):c.1131del (p.Asp378fs)
|
rs886043479
|
|
NM_000466.3(PEX1):c.1141G>C (p.Ala381Pro)
|
|
|
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp)
|
rs73404416
|
|
NM_000466.3(PEX1):c.1183A>G (p.Asn395Asp)
|
rs769902926
|
|
NM_000466.3(PEX1):c.1230G>A (p.Gly410=)
|
rs539382251
|
|
NM_000466.3(PEX1):c.1246G>A (p.Asp416Asn)
|
rs1562862971
|
|
NM_000466.3(PEX1):c.130-180del
|
rs71841826
|
|
NM_000466.3(PEX1):c.130-2A>G
|
rs1585260993
|
|
NM_000466.3(PEX1):c.1359+5G>A
|
rs727504077
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
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.1434T>G (p.Leu478=)
|
rs757668497
|
|
NM_000466.3(PEX1):c.1472A>C (p.Glu491Ala)
|
|
|
NM_000466.3(PEX1):c.1484-11_1484-6del
|
rs766638581
|
|
NM_000466.3(PEX1):c.1484-95del
|
rs5885807
|
|
NM_000466.3(PEX1):c.1484-96_1484-95del
|
rs5885807
|
|
NM_000466.3(PEX1):c.1627G>A (p.Glu543Lys)
|
rs767103504
|
|
NM_000466.3(PEX1):c.1670+193del
|
rs202132988
|
|
NM_000466.3(PEX1):c.1671-120del
|
rs79143453
|
|
NM_000466.3(PEX1):c.1671-66dup
|
rs79002315
|
|
NM_000466.3(PEX1):c.1699T>G (p.Leu567Val)
|
rs775665629
|
|
NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln)
|
rs370483961
|
|
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del)
|
rs1554372756
|
|
NM_000466.3(PEX1):c.1803+185_1803+187del
|
rs150645900
|
|
NM_000466.3(PEX1):c.1803+1G>T
|
rs1562857871
|
|
NM_000466.3(PEX1):c.1823T>C (p.Leu608Ser)
|
|
|
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)
|
rs1554372561
|
|
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.1892C>A (p.Ala631Asp)
|
rs745554964
|
|
NM_000466.3(PEX1):c.1899A>T (p.Arg633=)
|
rs2116175839
|
|
NM_000466.3(PEX1):c.1900+142_1900+143insTCTTAGAAATTTTAAG
|
rs11269897
|
|
NM_000466.3(PEX1):c.1900+2T>C
|
rs1562857198
|
|
NM_000466.3(PEX1):c.1951G>A (p.Ala651Thr)
|
rs1562856189
|
|
NM_000466.3(PEX1):c.1954G>T (p.Val652Leu)
|
rs559310827
|
|
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe)
|
rs193221288
|
|
NM_000466.3(PEX1):c.1976T>G (p.Val659Gly)
|
rs1792104355
|
|
NM_000466.3(PEX1):c.2017G>C (p.Val673Leu)
|
|
|
NM_000466.3(PEX1):c.2019C>G (p.Val673=)
|
|
|
NM_000466.3(PEX1):c.2039del (p.Pro680fs)
|
rs1269903353
|
|
NM_000466.3(PEX1):c.2083_2084del (p.Met695fs)
|
rs2116156265
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.2176C>T (p.Gln726Ter)
|
rs786205655
|
|
NM_000466.3(PEX1):c.2205A>G (p.Gln735=)
|
rs201308230
|
|
NM_000466.3(PEX1):c.2226+2T>C
|
rs1792005848
|
|
NM_000466.3(PEX1):c.2226+57del
|
rs138118520
|
|
NM_000466.3(PEX1):c.2226G>C (p.Gln742His)
|
|
|
NM_000466.3(PEX1):c.2227-11T>A
|
rs760316851
|
|
NM_000466.3(PEX1):c.2227-3T>A
|
|
|
NM_000466.3(PEX1):c.2234G>T (p.Arg745Ile)
|
rs1562854190
|
|
NM_000466.3(PEX1):c.2368C>G (p.Arg790Gly)
|
rs61750417
|
|
NM_000466.3(PEX1):c.2396dup (p.Ser800fs)
|
rs778871894
|
|
NM_000466.3(PEX1):c.2426del (p.Val808_Leu809insTer)
|
rs1791933271
|
|
NM_000466.3(PEX1):c.2468del (p.Pro823fs)
|
rs766947924
|
|
NM_000466.3(PEX1):c.2542G>T (p.Val848Phe)
|
|
|
NM_000466.3(PEX1):c.2583+136del
|
rs3842627
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-11_2584-10del
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-21dup
|
rs5885806
|
|
NM_000466.3(PEX1):c.2584-9_2584-8del
|
rs1554370144
|
|
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)
|
rs886043984
|
|
NM_000466.3(PEX1):c.2693G>A (p.Ser898Asn)
|
rs1791831263
|
|
NM_000466.3(PEX1):c.2708T>C (p.Ile903Thr)
|
|
|
NM_000466.3(PEX1):c.2719-4A>G
|
|
|
NM_000466.3(PEX1):c.2724dup (p.Glu909fs)
|
rs1554369227
|
|
NM_000466.3(PEX1):c.273G>A (p.Gln91=)
|
rs1562869817
|
|
NM_000466.3(PEX1):c.363G>A (p.Leu121=)
|
rs200866361
|
|
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)
|
rs201415996
|
|
NM_000466.3(PEX1):c.453G>A (p.Thr151=)
|
rs368714078
|
|
NM_000466.3(PEX1):c.464T>C (p.Ile155Thr)
|
rs1562867275
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
NM_000466.3(PEX1):c.475G>T (p.Ala159Ser)
|
rs372455445
|
|
NM_000466.3(PEX1):c.484C>T (p.Pro162Ser)
|
rs2116247732
|
|
NM_000466.3(PEX1):c.525C>A (p.Leu175=)
|
rs886043502
|
|
NM_000466.3(PEX1):c.535C>T (p.Pro179Ser)
|
rs760387811
|
|
NM_000466.3(PEX1):c.547C>G (p.Arg183Gly)
|
rs149806989
|
|
NM_000466.3(PEX1):c.630G>C (p.Met210Ile)
|
rs1562866915
|
|
NM_000466.3(PEX1):c.657_660del (p.Ser220fs)
|
rs786205656
|
|
NM_000466.3(PEX1):c.753C>T (p.Ser251=)
|
rs1554375514
|
|
NM_000466.3(PEX1):c.829C>T (p.Gln277Ter)
|
|
|
NM_000466.3(PEX1):c.91C>T (p.Leu31=)
|
rs1585269118
|
|