NM_207352.4(CYP4V2):c.*1781A>C
|
rs6842047
|
0.89083
|
NM_207352.4(CYP4V2):c.*725C>T
|
rs10033577
|
0.89040
|
NM_207352.3(CYP4V2):c.-296A>C
|
rs7662717
|
0.86820
|
NM_207352.4(CYP4V2):c.*741C>T
|
rs10033581
|
0.81342
|
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=)
|
rs3736455
|
0.62273
|
NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys)
|
rs13146272
|
0.60911
|
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)
|
rs1055138
|
0.46276
|
NM_207352.4(CYP4V2):c.*1236A>T
|
rs1053094
|
0.45426
|
NM_207352.4(CYP4V2):c.-146C>T
|
rs1398007
|
0.41622
|
NM_207352.4(CYP4V2):c.-152A>G
|
rs2241819
|
0.39682
|
NM_207352.4(CYP4V2):c.802-7C>T
|
rs3817184
|
0.36293
|
NM_207352.4(CYP4V2):c.*2399C>T
|
rs56413992
|
0.15680
|
NM_207352.4(CYP4V2):c.846T>C (p.Cys282=)
|
rs3736456
|
0.07854
|
NM_207352.4(CYP4V2):c.1083C>T (p.Asp361=)
|
rs10029149
|
0.07706
|
NM_207352.4(CYP4V2):c.*1638G>A
|
rs72646300
|
0.07687
|
NM_207352.4(CYP4V2):c.*1148A>G
|
rs10011736
|
0.07494
|
NM_207352.4(CYP4V2):c.327+11G>C
|
rs62350517
|
0.05079
|
NM_207352.4(CYP4V2):c.555A>T (p.Ala185=)
|
rs11932764
|
0.04735
|
NM_207352.4(CYP4V2):c.823G>A (p.Glu275Lys)
|
rs34745240
|
0.03921
|
NM_207352.4(CYP4V2):c.*1503A>C
|
rs55678259
|
0.03671
|
NM_207352.4(CYP4V2):c.*1057T>C
|
rs62348766
|
0.02979
|
NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn)
|
rs34331648
|
0.02714
|
NM_207352.4(CYP4V2):c.*1474G>T
|
rs77175303
|
0.01464
|
NM_207352.4(CYP4V2):c.1091-4T>A
|
rs61748269
|
0.01211
|
NM_207352.4(CYP4V2):c.1536C>T (p.Gly512=)
|
rs72646298
|
0.01209
|
NM_207352.4(CYP4V2):c.-128A>G
|
rs531909464
|
0.01113
|
NM_207352.4(CYP4V2):c.-130del
|
rs200054565
|
0.01110
|
NM_207352.4(CYP4V2):c.*2106G>T
|
rs72646302
|
0.01061
|
NM_207352.4(CYP4V2):c.*1053C>T
|
rs62348765
|
0.00964
|
NM_207352.4(CYP4V2):c.*4T>C
|
rs76978024
|
0.00479
|
NM_207352.4(CYP4V2):c.*1023T>C
|
rs62348764
|
0.00326
|
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln)
|
rs72646291
|
0.00306
|
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr)
|
rs61745524
|
0.00299
|
NM_207352.4(CYP4V2):c.*160A>G
|
rs187506967
|
0.00263
|
NM_207352.4(CYP4V2):c.*392G>A
|
rs185369023
|
0.00239
|
NM_207352.4(CYP4V2):c.*2590T>C
|
rs532291947
|
0.00191
|
NM_207352.4(CYP4V2):c.99G>A (p.Leu33=)
|
rs145611966
|
0.00169
|
NM_207352.4(CYP4V2):c.*175A>G
|
rs192122143
|
0.00158
|
NM_207352.4(CYP4V2):c.*1463G>C
|
rs549421198
|
0.00123
|
NM_207352.4(CYP4V2):c.*1159T>A
|
rs565805219
|
0.00111
|
NM_207352.3(CYP4V2):c.-302G>A
|
rs549805175
|
0.00107
|
NM_207352.4(CYP4V2):c.*715C>T
|
rs770372165
|
0.00096
|
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=)
|
rs141950964
|
0.00089
|
NM_207352.4(CYP4V2):c.*2078T>C
|
rs531522779
|
0.00084
|
NM_207352.4(CYP4V2):c.24C>T (p.Leu8=)
|
rs202148693
|
0.00077
|
NM_207352.4(CYP4V2):c.*1589C>T
|
rs144839540
|
0.00071
|
NM_207352.4(CYP4V2):c.*1737A>G
|
rs78965616
|
0.00053
|
NM_207352.4(CYP4V2):c.*232G>A
|
rs145900260
|
0.00052
|
NM_207352.4(CYP4V2):c.*2010G>A
|
rs190455204
|
0.00043
|
NM_207352.4(CYP4V2):c.*1774C>T
|
rs779828762
|
0.00035
|
NM_207352.4(CYP4V2):c.*923G>A
|
rs943194261
|
0.00035
|
NM_207352.4(CYP4V2):c.282C>T (p.Val94=)
|
rs142775374
|
0.00035
|
NM_207352.4(CYP4V2):c.*2163G>A
|
rs565869902
|
0.00031
|
NM_207352.4(CYP4V2):c.*452C>T
|
rs564129543
|
0.00025
|
NM_207352.4(CYP4V2):c.*2266A>G
|
rs934968593
|
0.00024
|
NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg)
|
rs119103282
|
0.00024
|
NM_207352.4(CYP4V2):c.1103G>A (p.Arg368His)
|
rs138739819
|
0.00021
|
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)
|
rs149684063
|
0.00021
|
NM_207352.4(CYP4V2):c.674+14T>C
|
rs201205689
|
0.00020
|
NM_207352.4(CYP4V2):c.414-1G>A
|
rs767779208
|
0.00015
|
NM_207352.4(CYP4V2):c.1120G>T (p.Asp374Tyr)
|
rs376015936
|
0.00013
|
NM_207352.4(CYP4V2):c.*1986G>A
|
rs146050895
|
0.00012
|
NM_207352.4(CYP4V2):c.*1851A>G
|
rs886059293
|
0.00010
|
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys)
|
rs138444697
|
0.00010
|
NM_207352.4(CYP4V2):c.1289C>T (p.Pro430Leu)
|
rs144008429
|
0.00010
|
NM_207352.4(CYP4V2):c.*1238C>T
|
rs180813595
|
0.00009
|
NM_207352.4(CYP4V2):c.-178C>T
|
rs886059279
|
0.00009
|
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro)
|
rs199476197
|
0.00008
|
NM_207352.4(CYP4V2):c.1184T>C (p.Val395Ala)
|
rs143711287
|
0.00007
|
NM_207352.4(CYP4V2):c.*1690C>T
|
rs536605930
|
0.00006
|
NM_207352.4(CYP4V2):c.*2176T>C
|
rs543284486
|
0.00006
|
NM_207352.4(CYP4V2):c.*2303G>C
|
rs576134216
|
0.00006
|
NM_207352.4(CYP4V2):c.1339G>A (p.Glu447Lys)
|
rs200623218
|
0.00006
|
NM_207352.4(CYP4V2):c.*2189A>G
|
rs537197865
|
0.00005
|
NM_207352.4(CYP4V2):c.*2373G>C
|
rs572480731
|
0.00005
|
NM_207352.4(CYP4V2):c.*810C>G
|
rs11947391
|
0.00005
|
NM_207352.4(CYP4V2):c.1091-2A>G
|
rs199476183
|
0.00005
|
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr)
|
rs119103283
|
0.00005
|
NM_207352.4(CYP4V2):c.400G>T (p.Gly134Ter)
|
rs199476189
|
0.00005
|
NM_207352.4(CYP4V2):c.*172T>C
|
rs1043961395
|
0.00004
|
NM_207352.4(CYP4V2):c.*2017T>C
|
rs886059295
|
0.00004
|
NM_207352.4(CYP4V2):c.*2281A>G
|
rs759670605
|
0.00004
|
NM_207352.4(CYP4V2):c.*2622A>T
|
rs561265305
|
0.00004
|
NM_207352.4(CYP4V2):c.163C>A (p.Arg55Ser)
|
rs760001831
|
0.00004
|
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp)
|
rs199476185
|
0.00004
|
NM_207352.4(CYP4V2):c.662G>A (p.Arg221His)
|
rs763083895
|
0.00004
|
NM_207352.4(CYP4V2):c.*2139G>A
|
rs546961288
|
0.00003
|
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His)
|
rs199476203
|
0.00003
|
NM_207352.4(CYP4V2):c.1423A>G (p.Met475Val)
|
rs762821992
|
0.00003
|
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His)
|
rs119103284
|
0.00003
|
NM_207352.4(CYP4V2):c.626T>C (p.Ile209Thr)
|
rs376640607
|
0.00003
|
NM_207352.4(CYP4V2):c.*1721A>G
|
rs925222658
|
0.00002
|
NM_207352.4(CYP4V2):c.*2748A>G
|
rs111816209
|
0.00002
|
NM_207352.4(CYP4V2):c.-22C>G
|
rs894067959
|
0.00002
|
NM_207352.4(CYP4V2):c.1344T>C (p.Asn448=)
|
rs72646292
|
0.00002
|
NM_207352.4(CYP4V2):c.694C>T (p.Arg232Ter)
|
rs369063468
|
0.00002
|
NM_207352.4(CYP4V2):c.*1417T>A
|
rs886059292
|
0.00001
|
NM_207352.4(CYP4V2):c.*1756T>C
|
rs1046943032
|
0.00001
|
NM_207352.4(CYP4V2):c.*2166C>G
|
rs192436436
|
0.00001
|
NM_207352.4(CYP4V2):c.*2708A>G
|
rs1463658668
|
0.00001
|
NM_207352.4(CYP4V2):c.*282A>C
|
rs994768815
|
0.00001
|
NM_207352.4(CYP4V2):c.1187C>T (p.Pro396Leu)
|
rs199476202
|
0.00001
|
NM_207352.4(CYP4V2):c.120C>G (p.Tyr40Ter)
|
rs1481160549
|
0.00001
|
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter)
|
rs199476204
|
0.00001
|
NM_207352.4(CYP4V2):c.253C>T (p.Arg85Cys)
|
rs199476186
|
0.00001
|
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)
|
rs199476187
|
0.00001
|
NM_207352.4(CYP4V2):c.302C>T (p.Ala101Val)
|
rs143272248
|
0.00001
|
NM_207352.4(CYP4V2):c.661C>T (p.Arg221Cys)
|
rs745471184
|
0.00001
|
NM_207352.4(CYP4V2):c.736C>G (p.Leu246Val)
|
rs531538384
|
0.00001
|
NM_207352.4(CYP4V2):c.761A>G (p.His254Arg)
|
rs199476193
|
0.00001
|
NM_207352.4(CYP4V2):c.772C>A (p.Leu258Ile)
|
rs761190623
|
0.00001
|
NM_207352.4(CYP4V2):c.801+1G>A
|
rs761362530
|
0.00001
|
NM_207352.4(CYP4V2):c.974C>T (p.Thr325Ile)
|
rs199476196
|
0.00001
|
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)
|
rs387906385
|
|
NM_000350.3(ABCA4):c.3522+6T>C
|
rs1570370713
|
|
NM_207352.4(CYP4V2):c.*1023_*1024del
|
rs886059287
|
|
NM_207352.4(CYP4V2):c.*1023_*1026del
|
rs886059286
|
|
NM_207352.4(CYP4V2):c.*1025CA[18]
|
rs60425964
|
|
NM_207352.4(CYP4V2):c.*1025CA[19]
|
rs60425964
|
|
NM_207352.4(CYP4V2):c.*1027C>T
|
rs541778964
|
|
NM_207352.4(CYP4V2):c.*1052A>T
|
rs961919705
|
|
NM_207352.4(CYP4V2):c.*1054_*1055insTA
|
rs144125100
|
|
NM_207352.4(CYP4V2):c.*1056_*1057insCACACATACA
|
rs1554075269
|
|
NM_207352.4(CYP4V2):c.*1056_*1057insCATACA
|
rs1554075269
|
|
NM_207352.4(CYP4V2):c.*1057delinsCACACACAC
|
rs869178465
|
|
NM_207352.4(CYP4V2):c.*1057delinsCACACACACAC
|
rs869178465
|
|
NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACAC
|
rs869178465
|
|
NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACAC
|
rs869178465
|
|
NM_207352.4(CYP4V2):c.*1057delinsCACACACACACACACACACACATACAC
|
rs869178465
|
|
NM_207352.4(CYP4V2):c.*1057delinsCACACACACATACAC
|
rs869178465
|
|
NM_207352.4(CYP4V2):c.*1057delinsCACACATACAC
|
rs869178465
|
|
NM_207352.4(CYP4V2):c.*1057delinsCACATACAC
|
rs869178465
|
|
NM_207352.4(CYP4V2):c.*1059CA[5]
|
rs58524374
|
|
NM_207352.4(CYP4V2):c.*1123_*1127del
|
rs574084304
|
|
NM_207352.4(CYP4V2):c.*1317T>C
|
rs886059291
|
|
NM_207352.4(CYP4V2):c.*1496G>C
|
rs1736743651
|
|
NM_207352.4(CYP4V2):c.*1705C>T
|
rs1736750061
|
|
NM_207352.4(CYP4V2):c.*1722T>C
|
rs1736750645
|
|
NM_207352.4(CYP4V2):c.*1967C>T
|
rs886059294
|
|
NM_207352.4(CYP4V2):c.*198A>T
|
rs150697121
|
|
NM_207352.4(CYP4V2):c.*204T>C
|
rs577711483
|
|
NM_207352.4(CYP4V2):c.*210dup
|
rs199938898
|
|
NM_207352.4(CYP4V2):c.*2116A>C
|
rs1736768091
|
|
NM_207352.4(CYP4V2):c.*2751A>G
|
rs963988307
|
|
NM_207352.4(CYP4V2):c.*364T>A
|
rs7697077
|
|
NM_207352.4(CYP4V2):c.*364T>G
|
rs7697077
|
|
NM_207352.4(CYP4V2):c.*449C>T
|
rs1736705065
|
|
NM_207352.4(CYP4V2):c.*636A>G
|
rs1736711167
|
|
NM_207352.4(CYP4V2):c.*659A>G
|
rs886059284
|
|
NM_207352.4(CYP4V2):c.*829C>T
|
rs886059285
|
|
NM_207352.4(CYP4V2):c.*836C>A
|
rs535179510
|
|
NM_207352.4(CYP4V2):c.*888G>A
|
rs769774997
|
|
NM_207352.4(CYP4V2):c.*999C>T
|
rs556923527
|
|
NM_207352.4(CYP4V2):c.-133G>T
|
rs562885669
|
|
NM_207352.4(CYP4V2):c.-199C>T
|
rs886059278
|
|
NM_207352.4(CYP4V2):c.-56C>G
|
rs886059280
|
|
NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter)
|
rs199476198
|
|
NM_207352.4(CYP4V2):c.1021T>C (p.Ser341Pro)
|
rs199476199
|
|
NM_207352.4(CYP4V2):c.1062A>G (p.Lys354=)
|
rs1736463662
|
|
NM_207352.4(CYP4V2):c.1091-15A>G
|
rs1300763823
|
|
NM_207352.4(CYP4V2):c.1123del (p.Asp374_Leu375insTer)
|
rs1579976512
|
|
NM_207352.4(CYP4V2):c.1157A>C (p.Lys386Thr)
|
rs199476200
|
|
NM_207352.4(CYP4V2):c.1169G>A (p.Arg390His)
|
rs199476201
|
|
NM_207352.4(CYP4V2):c.1169G>T (p.Arg390Leu)
|
rs199476201
|
|
NM_207352.4(CYP4V2):c.1219G>T (p.Glu407Ter)
|
rs2126600867
|
|
NM_207352.4(CYP4V2):c.1225+14A>G
|
rs886059282
|
|
NM_207352.4(CYP4V2):c.1226-6_1235del
|
rs199476184
|
|
NM_207352.4(CYP4V2):c.1338C>G (p.Pro446=)
|
rs35524919
|
|
NM_207352.4(CYP4V2):c.1338C>T (p.Pro446=)
|
rs35524919
|
|
NM_207352.4(CYP4V2):c.1396A>G (p.Asn466Asp)
|
rs797045181
|
|
NM_207352.4(CYP4V2):c.1445C>A (p.Ser482Ter)
|
rs146494374
|
|
NM_207352.4(CYP4V2):c.1526C>T (p.Pro509Leu)
|
rs199476205
|
|
NM_207352.4(CYP4V2):c.176del (p.Leu59fs)
|
rs1735999769
|
|
NM_207352.4(CYP4V2):c.181G>A (p.Gly61Ser)
|
rs119103285
|
|
NM_207352.4(CYP4V2):c.267del (p.Leu89_Leu90insTer)
|
rs2126582121
|
|
NM_207352.4(CYP4V2):c.311A>G (p.Asn104Ser)
|
rs886059281
|
|
NM_207352.4(CYP4V2):c.327+1G>A
|
rs199476182
|
|
NM_207352.4(CYP4V2):c.335T>G (p.Leu112Ter)
|
rs199476188
|
|
NM_207352.4(CYP4V2):c.501_504del (p.Glu168fs)
|
rs746484929
|
|
NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp)
|
rs199476190
|
|
NM_207352.4(CYP4V2):c.655T>C (p.Tyr219His)
|
rs199476191
|
|
NM_207352.4(CYP4V2):c.759dup (p.His254fs)
|
rs199476192
|
|
NM_207352.4(CYP4V2):c.802-8_810delinsGC
|
rs207482233
|
|
NM_207352.4(CYP4V2):c.833C>T (p.Ala278Val)
|
|
|
NM_207352.4(CYP4V2):c.841G>A (p.Asp281Asn)
|
rs913510827
|
|
NM_207352.4(CYP4V2):c.958C>T (p.Arg320Ter)
|
rs199476194
|
|
NM_207352.4(CYP4V2):c.971A>T (p.Asp324Val)
|
rs199476195
|
|
NM_207352.4(CYP4V2):c.987+7T>C
|
rs1736302352
|
|