NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
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.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.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.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.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.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.1240A>G (p.Ile414Val)
|
rs759491353
|
0.00002
|
NM_000466.3(PEX1):c.2268A>G (p.Lys756=)
|
rs1434174453
|
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.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.2084T>C (p.Met695Thr)
|
rs112747515
|
0.00001
|
NM_000466.3(PEX1):c.2195A>G (p.Gln732Arg)
|
rs147069266
|
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.2636T>C (p.Leu879Ser)
|
rs1362906637
|
0.00001
|
NM_000466.3(PEX1):c.2687G>A (p.Arg896Gln)
|
rs748798206
|
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.1111A>T (p.Arg371Trp)
|
rs769973410
|
|
NM_000466.3(PEX1):c.1141G>C (p.Ala381Pro)
|
|
|
NM_000466.3(PEX1):c.1183A>G (p.Asn395Asp)
|
rs769902926
|
|
NM_000466.3(PEX1):c.1246G>A (p.Asp416Asn)
|
rs1562862971
|
|
NM_000466.3(PEX1):c.1359+5G>A
|
rs727504077
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
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.1627G>A (p.Glu543Lys)
|
rs767103504
|
|
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.1823T>C (p.Leu608Ser)
|
|
|
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.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.2017G>C (p.Val673Leu)
|
|
|
NM_000466.3(PEX1):c.2019C>G (p.Val673=)
|
|
|
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.2542G>T (p.Val848Phe)
|
|
|
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.273G>A (p.Gln91=)
|
rs1562869817
|
|
NM_000466.3(PEX1):c.363G>A (p.Leu121=)
|
rs200866361
|
|
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.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.753C>T (p.Ser251=)
|
rs1554375514
|
|