NM_001371596.2(MFSD8):c.1268C>T (p.Ala423Val)
|
rs3733319
|
0.08088
|
NM_001371596.2(MFSD8):c.*533G>A
|
rs11940642
|
0.08086
|
NM_001371596.2(MFSD8):c.*2405G>A
|
rs11938181
|
0.02850
|
NM_001371596.2(MFSD8):c.*2465A>G
|
rs72616968
|
0.02684
|
NM_001358451.3(ABHD18):c.-18+315C>G
|
rs74561222
|
0.01575
|
NM_001371596.2(MFSD8):c.*1794G>T
|
rs79783621
|
0.01573
|
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=)
|
rs115275192
|
0.01140
|
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg)
|
rs11098943
|
0.01088
|
NM_001371596.2(MFSD8):c.*2464C>T
|
rs114689638
|
0.00731
|
NM_001371596.2(MFSD8):c.*258A>C
|
rs151190415
|
0.00610
|
NM_001371596.2(MFSD8):c.*675T>C
|
rs148636320
|
0.00481
|
NM_001371596.2(MFSD8):c.199-8T>C
|
rs112721309
|
0.00481
|
NM_001371596.2(MFSD8):c.*2689T>C
|
rs189321020
|
0.00326
|
NM_001371596.2(MFSD8):c.1041A>G (p.Val347=)
|
rs148291156
|
0.00302
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
NM_001371596.2(MFSD8):c.*427G>C
|
rs142139835
|
0.00226
|
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp)
|
rs145529594
|
0.00224
|
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp)
|
rs28544073
|
0.00184
|
NM_001371596.2(MFSD8):c.*2613T>C
|
rs539367239
|
0.00150
|
NM_001371596.2(MFSD8):c.*2021C>T
|
rs780466040
|
0.00091
|
NM_001371596.2(MFSD8):c.*2006A>C
|
rs181240021
|
0.00090
|
NM_001371596.2(MFSD8):c.*1147G>A
|
rs189901544
|
0.00082
|
NM_001371596.2(MFSD8):c.*1515T>A
|
rs74590222
|
0.00075
|
NM_001371596.2(MFSD8):c.1287C>T (p.Gly429=)
|
rs138072045
|
0.00073
|
NM_001371596.2(MFSD8):c.*463A>T
|
rs181696565
|
0.00054
|
NM_001371596.2(MFSD8):c.886G>A (p.Asp296Asn)
|
rs147295085
|
0.00054
|
NM_001371596.2(MFSD8):c.656T>C (p.Phe219Ser)
|
rs112734134
|
0.00048
|
NM_001371596.2(MFSD8):c.*1058A>G
|
rs531103173
|
0.00047
|
NM_001371596.2(MFSD8):c.*2309G>A
|
rs753944036
|
0.00034
|
NM_001371596.2(MFSD8):c.1311C>G (p.Ser437=)
|
rs145453022
|
0.00034
|
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser)
|
rs191172038
|
0.00030
|
NM_001371596.2(MFSD8):c.*2104T>C
|
rs139930263
|
0.00026
|
NM_001371596.2(MFSD8):c.677T>C (p.Ile226Thr)
|
rs200591471
|
0.00019
|
NM_001371596.2(MFSD8):c.864-16A>T
|
rs202196597
|
0.00016
|
NM_001371596.2(MFSD8):c.964G>A (p.Val322Ile)
|
rs1414250428
|
0.00016
|
NM_001371596.2(MFSD8):c.155-15T>C
|
rs374019724
|
0.00015
|
NM_001371596.2(MFSD8):c.199-11T>C
|
rs750871697
|
0.00015
|
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu)
|
rs147750747
|
0.00013
|
NM_001371596.2(MFSD8):c.934A>G (p.Ile312Val)
|
rs77098161
|
0.00013
|
NM_001371596.2(MFSD8):c.*1680A>G
|
rs1048664726
|
0.00012
|
NM_001371596.2(MFSD8):c.1205C>T (p.Ser402Leu)
|
rs200745039
|
0.00010
|
NM_001371596.2(MFSD8):c.576C>G (p.Phe192Leu)
|
rs777020801
|
0.00010
|
NM_001371596.2(MFSD8):c.592G>A (p.Val198Met)
|
rs377029630
|
0.00010
|
NM_001371596.2(MFSD8):c.1102+13A>G
|
rs371975482
|
0.00008
|
NM_001371596.2(MFSD8):c.*734A>G
|
rs1027710245
|
0.00007
|
NM_001371596.2(MFSD8):c.1423G>C (p.Val475Leu)
|
rs528664888
|
0.00007
|
NM_001371596.2(MFSD8):c.409G>A (p.Val137Ile)
|
rs146479250
|
0.00006
|
NM_001371596.2(MFSD8):c.689C>T (p.Ala230Val)
|
rs375681665
|
0.00006
|
NM_001371596.2(MFSD8):c.1335A>G (p.Leu445=)
|
rs145518709
|
0.00005
|
NM_001371596.2(MFSD8):c.342C>T (p.Ser114=)
|
rs201905099
|
0.00005
|
NM_001371596.2(MFSD8):c.772C>G (p.Gln258Glu)
|
rs976533060
|
0.00005
|
NM_001371596.2(MFSD8):c.1074A>G (p.Gly358=)
|
rs755236045
|
0.00004
|
NM_001371596.2(MFSD8):c.1174G>A (p.Glu392Lys)
|
rs773610115
|
0.00004
|
NM_001371596.2(MFSD8):c.1322A>G (p.Tyr441Cys)
|
rs749153763
|
0.00004
|
NM_001371596.2(MFSD8):c.1475T>C (p.Ile492Thr)
|
rs183448311
|
0.00004
|
NM_001371596.2(MFSD8):c.14G>C (p.Arg5Pro)
|
rs139409959
|
0.00004
|
NM_001371596.2(MFSD8):c.34C>T (p.Pro12Ser)
|
rs371882083
|
0.00004
|
NM_001371596.2(MFSD8):c.435A>C (p.Gly145=)
|
rs781299975
|
0.00004
|
NM_001371596.2(MFSD8):c.767A>C (p.Glu256Ala)
|
rs763119554
|
0.00004
|
NM_001371596.2(MFSD8):c.961G>A (p.Val321Ile)
|
rs76506918
|
0.00004
|
NM_001371596.2(MFSD8):c.978A>G (p.Gly326=)
|
rs138219028
|
0.00004
|
NM_001371596.2(MFSD8):c.*1161A>C
|
rs767418097
|
0.00003
|
NM_001371596.2(MFSD8):c.*2294G>A
|
rs924270202
|
0.00003
|
NM_001371596.2(MFSD8):c.*695A>G
|
rs886059068
|
0.00003
|
NM_001371596.2(MFSD8):c.1320A>G (p.Leu440=)
|
rs148864710
|
0.00003
|
NM_001371596.2(MFSD8):c.1377A>G (p.Ala459=)
|
rs185047041
|
0.00003
|
NM_001371596.2(MFSD8):c.1428T>C (p.Tyr476=)
|
rs1265498848
|
0.00003
|
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter)
|
rs724159971
|
0.00003
|
NM_001371596.2(MFSD8):c.1518C>T (p.Leu506=)
|
rs140732035
|
0.00003
|
NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys)
|
rs771879274
|
0.00003
|
NM_001371596.2(MFSD8):c.256G>A (p.Gly86Ser)
|
rs552923962
|
0.00003
|
NM_001371596.2(MFSD8):c.291G>C (p.Trp97Cys)
|
rs796052749
|
0.00003
|
NM_001371596.2(MFSD8):c.343G>A (p.Val115Met)
|
rs183450731
|
0.00003
|
NM_001371596.2(MFSD8):c.401A>G (p.Tyr134Cys)
|
rs1242219330
|
0.00003
|
NM_001371596.2(MFSD8):c.554-6A>G
|
rs759190605
|
0.00003
|
NM_001371596.2(MFSD8):c.652G>A (p.Ala218Thr)
|
rs368614789
|
0.00003
|
NM_001371596.2(MFSD8):c.707G>A (p.Arg236His)
|
rs371250204
|
0.00003
|
NM_001371596.2(MFSD8):c.754+2T>A
|
rs587778809
|
0.00003
|
NM_001371596.2(MFSD8):c.78A>G (p.Leu26=)
|
rs770986122
|
0.00003
|
NM_001371596.2(MFSD8):c.846C>A (p.Ile282=)
|
rs776272077
|
0.00003
|
NM_001371596.2(MFSD8):c.*1455G>A
|
rs979851286
|
0.00002
|
NM_001371596.2(MFSD8):c.*2314G>A
|
rs1386466120
|
0.00002
|
NM_001371596.2(MFSD8):c.1068T>C (p.Pro356=)
|
rs376258320
|
0.00002
|
NM_001371596.2(MFSD8):c.1080A>G (p.Gln360=)
|
rs751316775
|
0.00002
|
NM_001371596.2(MFSD8):c.1102+6G>A
|
rs772154101
|
0.00002
|
NM_001371596.2(MFSD8):c.1103-18A>G
|
rs748197230
|
0.00002
|
NM_001371596.2(MFSD8):c.1107G>C (p.Leu369Phe)
|
rs747197852
|
0.00002
|
NM_001371596.2(MFSD8):c.1251C>T (p.Ala417=)
|
rs1477931820
|
0.00002
|
NM_001371596.2(MFSD8):c.1445G>A (p.Arg482Gln)
|
rs547726489
|
0.00002
|
NM_001371596.2(MFSD8):c.1513A>C (p.Arg505=)
|
rs776622815
|
0.00002
|
NM_001371596.2(MFSD8):c.1535G>A (p.Arg512Lys)
|
rs796052748
|
0.00002
|
NM_001371596.2(MFSD8):c.177C>T (p.Ser59=)
|
rs766788326
|
0.00002
|
NM_001371596.2(MFSD8):c.178A>G (p.Ile60Val)
|
rs143902749
|
0.00002
|
NM_001371596.2(MFSD8):c.186A>G (p.Pro62=)
|
rs750969105
|
0.00002
|
NM_001371596.2(MFSD8):c.277A>G (p.Ile93Val)
|
rs578102641
|
0.00002
|
NM_001371596.2(MFSD8):c.33G>A (p.Glu11=)
|
rs1339889094
|
0.00002
|
NM_001371596.2(MFSD8):c.400T>C (p.Tyr134His)
|
rs776316095
|
0.00002
|
NM_001371596.2(MFSD8):c.439+16T>A
|
rs1320386320
|
0.00002
|
NM_001371596.2(MFSD8):c.465T>C (p.Tyr155=)
|
rs753346740
|
0.00002
|
NM_001371596.2(MFSD8):c.493A>C (p.Arg165=)
|
rs761767969
|
0.00002
|
NM_001371596.2(MFSD8):c.553+20C>T
|
rs542955531
|
0.00002
|
NM_001371596.2(MFSD8):c.63-4C>T
|
rs764964269
|
0.00002
|
NM_001371596.2(MFSD8):c.863+9T>C
|
rs201046915
|
0.00002
|
NM_001371596.2(MFSD8):c.864-1G>A
|
rs571950296
|
0.00002
|
NM_001371596.2(MFSD8):c.931A>G (p.Ile311Val)
|
rs753930474
|
0.00002
|
NM_001371596.2(MFSD8):c.*1471T>C
|
rs886059066
|
0.00001
|
NM_001371596.2(MFSD8):c.*2146A>G
|
rs750676275
|
0.00001
|
NM_001371596.2(MFSD8):c.*2214A>G
|
rs886059065
|
0.00001
|
NM_001371596.2(MFSD8):c.*2270G>C
|
rs886059064
|
0.00001
|
NM_001371596.2(MFSD8):c.*250G>A
|
rs980825570
|
0.00001
|
NM_001371596.2(MFSD8):c.*2592A>G
|
rs924357088
|
0.00001
|
NM_001371596.2(MFSD8):c.*2683C>T
|
rs886059063
|
0.00001
|
NM_001371596.2(MFSD8):c.*369G>A
|
rs534031511
|
0.00001
|
NM_001371596.2(MFSD8):c.1010G>A (p.Arg337His)
|
rs200386040
|
0.00001
|
NM_001371596.2(MFSD8):c.1015A>G (p.Ile339Val)
|
rs1280781007
|
0.00001
|
NM_001371596.2(MFSD8):c.1035C>T (p.Ile345=)
|
rs141422574
|
0.00001
|
NM_001371596.2(MFSD8):c.1036G>A (p.Val346Ile)
|
rs746209973
|
0.00001
|
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter)
|
rs749315686
|
0.00001
|
NM_001371596.2(MFSD8):c.1040T>C (p.Val347Ala)
|
rs1331862351
|
0.00001
|
NM_001371596.2(MFSD8):c.104G>A (p.Arg35Gln)
|
rs146596875
|
0.00001
|
NM_001371596.2(MFSD8):c.1093C>T (p.Gln365Ter)
|
rs904329013
|
0.00001
|
NM_001371596.2(MFSD8):c.1102+9A>G
|
rs766114843
|
0.00001
|
NM_001371596.2(MFSD8):c.1116T>A (p.Asn372Lys)
|
rs758114648
|
0.00001
|
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter)
|
rs724159970
|
0.00001
|
NM_001371596.2(MFSD8):c.116T>A (p.Ile39Asn)
|
rs140349255
|
0.00001
|
NM_001371596.2(MFSD8):c.1206G>A (p.Ser402=)
|
rs772377066
|
0.00001
|
NM_001371596.2(MFSD8):c.1218C>T (p.Ala406=)
|
rs753832653
|
0.00001
|
NM_001371596.2(MFSD8):c.1228T>C (p.Tyr410His)
|
rs777361767
|
0.00001
|
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)
|
rs267607235
|
0.00001
|
NM_001371596.2(MFSD8):c.1258C>T (p.Leu420Phe)
|
rs1398267947
|
0.00001
|
NM_001371596.2(MFSD8):c.1262C>T (p.Thr421Ile)
|
rs765587961
|
0.00001
|
NM_001371596.2(MFSD8):c.1265C>T (p.Ser422Leu)
|
rs1394582555
|
0.00001
|
NM_001371596.2(MFSD8):c.1270G>A (p.Val424Met)
|
rs910297451
|
0.00001
|
NM_001371596.2(MFSD8):c.1273C>G (p.Leu425Val)
|
rs1334064077
|
0.00001
|
NM_001371596.2(MFSD8):c.1280G>A (p.Gly427Glu)
|
rs760640742
|
0.00001
|
NM_001371596.2(MFSD8):c.128A>G (p.Tyr43Cys)
|
rs1421635169
|
0.00001
|
NM_001371596.2(MFSD8):c.1307T>C (p.Met436Thr)
|
rs1405931975
|
0.00001
|
NM_001371596.2(MFSD8):c.133A>T (p.Thr45Ser)
|
rs1743087138
|
0.00001
|
NM_001371596.2(MFSD8):c.1346C>T (p.Pro449Leu)
|
rs780779080
|
0.00001
|
NM_001371596.2(MFSD8):c.1351-10C>T
|
rs1419970423
|
0.00001
|
NM_001371596.2(MFSD8):c.1351-1G>A
|
rs565253666
|
0.00001
|
NM_001371596.2(MFSD8):c.1351-6C>T
|
rs1288349006
|
0.00001
|
NM_001371596.2(MFSD8):c.136A>G (p.Met46Val)
|
rs1427310721
|
0.00001
|
NM_001371596.2(MFSD8):c.1391C>T (p.Ala464Val)
|
rs758095101
|
0.00001
|
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln)
|
rs1275962600
|
0.00001
|
NM_001371596.2(MFSD8):c.1416C>T (p.Ile472=)
|
rs1473670776
|
0.00001
|
NM_001371596.2(MFSD8):c.1448G>A (p.Trp483Ter)
|
rs1216600395
|
0.00001
|
NM_001371596.2(MFSD8):c.1461G>A (p.Leu487=)
|
rs1736221866
|
0.00001
|
NM_001371596.2(MFSD8):c.1481T>C (p.Leu494Pro)
|
rs1217401163
|
0.00001
|
NM_001371596.2(MFSD8):c.151G>T (p.Val51Leu)
|
rs1408300356
|
0.00001
|
NM_001371596.2(MFSD8):c.1538A>G (p.Tyr513Cys)
|
rs1385542021
|
0.00001
|
NM_001371596.2(MFSD8):c.154+11G>T
|
rs373643838
|
0.00001
|
NM_001371596.2(MFSD8):c.1550A>G (p.Gln517Arg)
|
rs1443934235
|
0.00001
|
NM_001371596.2(MFSD8):c.156G>T (p.Gly52=)
|
rs753433200
|
0.00001
|
NM_001371596.2(MFSD8):c.15G>A (p.Arg5=)
|
rs762559863
|
0.00001
|
NM_001371596.2(MFSD8):c.162T>G (p.Ser54=)
|
rs777277246
|
0.00001
|
NM_001371596.2(MFSD8):c.187T>C (p.Tyr63His)
|
rs1227280018
|
0.00001
|
NM_001371596.2(MFSD8):c.207G>A (p.Pro69=)
|
rs781051390
|
0.00001
|
NM_001371596.2(MFSD8):c.217dup (p.Thr73fs)
|
rs796052752
|
0.00001
|
NM_001371596.2(MFSD8):c.218C>T (p.Thr73Ile)
|
rs377555060
|
0.00001
|
NM_001371596.2(MFSD8):c.219A>G (p.Thr73=)
|
rs143654391
|
0.00001
|
NM_001371596.2(MFSD8):c.221G>C (p.Ser74Thr)
|
rs759313071
|
0.00001
|
NM_001371596.2(MFSD8):c.22A>G (p.Ser8Gly)
|
rs747446547
|
0.00001
|
NM_001371596.2(MFSD8):c.233G>A (p.Trp78Ter)
|
rs1578912362
|
0.00001
|
NM_001371596.2(MFSD8):c.270T>A (p.Ala90=)
|
rs754809138
|
0.00001
|
NM_001371596.2(MFSD8):c.27A>G (p.Glu9=)
|
rs1216544839
|
0.00001
|
NM_001371596.2(MFSD8):c.288A>G (p.Leu96=)
|
rs1008821019
|
0.00001
|
NM_001371596.2(MFSD8):c.300T>C (p.Tyr100=)
|
rs754739634
|
0.00001
|
NM_001371596.2(MFSD8):c.305C>T (p.Pro102Leu)
|
rs1458806628
|
0.00001
|
NM_001371596.2(MFSD8):c.306A>G (p.Pro102=)
|
rs746201253
|
0.00001
|
NM_001371596.2(MFSD8):c.309A>T (p.Arg103Ser)
|
rs148916499
|
0.00001
|
NM_001371596.2(MFSD8):c.315G>A (p.Glu105=)
|
rs1740610356
|
0.00001
|
NM_001371596.2(MFSD8):c.316C>T (p.Pro106Ser)
|
rs757793193
|
0.00001
|
NM_001371596.2(MFSD8):c.350C>G (p.Ala117Gly)
|
rs759795397
|
0.00001
|
NM_001371596.2(MFSD8):c.35C>T (p.Pro12Leu)
|
rs749496400
|
0.00001
|
NM_001371596.2(MFSD8):c.37C>A (p.Leu13Ile)
|
rs150892838
|
0.00001
|
NM_001371596.2(MFSD8):c.37C>G (p.Leu13Val)
|
rs150892838
|
0.00001
|
NM_001371596.2(MFSD8):c.403A>G (p.Met135Val)
|
rs768398882
|
0.00001
|
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His)
|
rs749704755
|
0.00001
|
NM_001371596.2(MFSD8):c.421T>C (p.Leu141=)
|
rs778330834
|
0.00001
|
NM_001371596.2(MFSD8):c.431T>C (p.Ile144Thr)
|
rs1227703492
|
0.00001
|
NM_001371596.2(MFSD8):c.436G>A (p.Ala146Thr)
|
rs755152088
|
0.00001
|
NM_001371596.2(MFSD8):c.479C>T (p.Thr160Ile)
|
rs1162750836
|
0.00001
|
NM_001371596.2(MFSD8):c.531A>G (p.Ala177=)
|
rs376733427
|
0.00001
|
NM_001371596.2(MFSD8):c.544C>T (p.Leu182=)
|
rs929058333
|
0.00001
|
NM_001371596.2(MFSD8):c.54T>G (p.Pro18=)
|
rs1243416801
|
0.00001
|
NM_001371596.2(MFSD8):c.566G>A (p.Cys189Tyr)
|
rs1355954321
|
0.00001
|
NM_001371596.2(MFSD8):c.596C>T (p.Thr199Ile)
|
rs1175598258
|
0.00001
|
NM_001371596.2(MFSD8):c.604G>A (p.Val202Met)
|
rs757623473
|
0.00001
|
NM_001371596.2(MFSD8):c.63-9T>C
|
rs754893282
|
0.00001
|
NM_001371596.2(MFSD8):c.632C>T (p.Thr211Ile)
|
rs925670950
|
0.00001
|
NM_001371596.2(MFSD8):c.63A>C (p.Arg21Ser)
|
rs201926015
|
0.00001
|
NM_001371596.2(MFSD8):c.651C>T (p.Ser217=)
|
rs1298333228
|
0.00001
|
NM_001371596.2(MFSD8):c.681G>T (p.Leu227=)
|
rs754149229
|
0.00001
|
NM_001371596.2(MFSD8):c.699-5T>G
|
rs751010275
|
0.00001
|
NM_001371596.2(MFSD8):c.6C>T (p.Ala2=)
|
rs1261295844
|
0.00001
|
NM_001371596.2(MFSD8):c.706C>T (p.Arg236Cys)
|
rs758002981
|
0.00001
|
NM_001371596.2(MFSD8):c.714T>C (p.Asp238=)
|
rs1012101360
|
0.00001
|
NM_001371596.2(MFSD8):c.726A>G (p.Arg242=)
|
rs753174925
|
0.00001
|
NM_001371596.2(MFSD8):c.72C>T (p.Asp24=)
|
rs775812921
|
0.00001
|
NM_001371596.2(MFSD8):c.755-6C>T
|
rs752118814
|
0.00001
|
NM_001371596.2(MFSD8):c.769G>A (p.Ala257Thr)
|
rs1255391064
|
0.00001
|
NM_001371596.2(MFSD8):c.770C>T (p.Ala257Val)
|
rs1300137848
|
0.00001
|
NM_001371596.2(MFSD8):c.774G>A (p.Gln258=)
|
rs773465316
|
0.00001
|
NM_001371596.2(MFSD8):c.778C>T (p.Pro260Ser)
|
rs1174831833
|
0.00001
|
NM_001371596.2(MFSD8):c.77T>G (p.Leu26Ter)
|
rs760049336
|
0.00001
|
NM_001371596.2(MFSD8):c.787A>G (p.Asn263Asp)
|
rs374234685
|
0.00001
|
NM_001371596.2(MFSD8):c.807T>A (p.Val269=)
|
rs1199001687
|
0.00001
|
NM_001371596.2(MFSD8):c.813C>T (p.Ala271=)
|
rs768499490
|
0.00001
|
NM_001371596.2(MFSD8):c.832G>A (p.Val278Met)
|
rs796052743
|
0.00001
|
NM_001371596.2(MFSD8):c.838C>G (p.Leu280Val)
|
rs749001842
|
0.00001
|
NM_001371596.2(MFSD8):c.840A>G (p.Leu280=)
|
rs199982542
|
0.00001
|
NM_001371596.2(MFSD8):c.852C>T (p.Ala284=)
|
rs1405791431
|
0.00001
|
NM_001371596.2(MFSD8):c.863+4A>G
|
rs752035164
|
0.00001
|
NM_001371596.2(MFSD8):c.863+8T>C
|
rs766959611
|
0.00001
|
NM_001371596.2(MFSD8):c.863C>T (p.Thr288Ile)
|
rs755384900
|
0.00001
|
NM_001371596.2(MFSD8):c.864-4T>C
|
rs1487175945
|
0.00001
|
NM_001371596.2(MFSD8):c.876A>G (p.Pro292=)
|
rs770483205
|
0.00001
|
NM_001371596.2(MFSD8):c.897C>T (p.Ala299=)
|
rs747352043
|
0.00001
|
NM_001371596.2(MFSD8):c.91C>G (p.His31Asp)
|
rs1296514095
|
0.00001
|
NM_001371596.2(MFSD8):c.923A>G (p.Tyr308Cys)
|
rs757345902
|
0.00001
|
NM_001371596.2(MFSD8):c.927T>C (p.Asn309=)
|
rs1217108120
|
0.00001
|
NM_001371596.2(MFSD8):c.954T>C (p.Val318=)
|
rs1299370477
|
0.00001
|
NM_001371596.2(MFSD8):c.960C>T (p.Ala320=)
|
rs376954943
|
0.00001
|
NM_001371596.2(MFSD8):c.975A>G (p.Leu325=)
|
rs570989221
|
0.00001
|
NM_001371596.2(MFSD8):c.999-12G>A
|
rs766315917
|
0.00001
|
NM_001371596.2(MFSD8):c.999G>C (p.Lys333Asn)
|
rs1057520312
|
0.00001
|
GRCh38/hg38 4q28.2(chr4:127949707-127984521)x0
|
|
|
GRCh38/hg38 4q28.2(chr4:127964562-127965767)x0
|
|
|
NC_000004.11:g.(?_128544537)_(129131208_?)del
|
|
|
NC_000004.11:g.(?_128554190)_(128886288_?)dup
|
|
|
NC_000004.11:g.(?_128802290)_(128886288_?)dup
|
|
|
NC_000004.11:g.(?_128804417)_(129131208_?)dup
|
|
|
NC_000004.11:g.(?_128841775)_(128878757_?)del
|
|
|
NC_000004.11:g.(?_128841775)_(128886298_?)del
|
|
|
NC_000004.11:g.(?_128841785)_(128843128_?)del
|
|
|
NC_000004.11:g.(?_128841785)_(128851992_?)del
|
|
|
NC_000004.11:g.(?_128841785)_(128851992_?)dup
|
|
|
NC_000004.11:g.(?_128851818)_(128886288_?)dup
|
|
|
NC_000004.11:g.(?_128851818)_(128886308_?)dup
|
|
|
NC_000004.11:g.(?_128851828)_(128851982_?)del
|
|
|
NC_000004.11:g.(?_128851838)_(128886363_?)dup
|
|
|
NC_000004.11:g.(?_128860988)_(128863333_?)del
|
|
|
NC_000004.11:g.(?_128864897)_(128886298_?)del
|
|
|
NC_000004.11:g.(?_128870939)_(128871022_?)del
|
|
|
NC_000004.11:g.(?_128870949)_(128871012_?)dup
|
|
|
NC_000004.11:g.(?_128878636)_(128886288_?)del
|
|
|
NC_000004.11:g.(?_128878646)_(128878757_?)del
|
|
|
NC_000004.11:g.(?_128878646)_(128886298_?)del
|
|
|
NC_000004.11:g.(?_128886207)_(128886288_?)del
|
|
|
NC_000004.11:g.(?_128886207)_(128886288_?)dup
|
|
|
NC_000004.11:g.(?_128886217)_(128886288_?)del
|
|
|
NC_000004.12:g.(?_127920610)_(127957612_?)del
|
|
|
NC_000004.12:g.(?_127920610)_(127965153_?)dup
|
|
|
NC_000004.12:g.(?_127930663)_(127933113_?)del
|
|
|
NC_000004.12:g.(?_127930663)_(127965153_?)del
|
|
|
NC_000004.12:g.(?_127932965)_(127933113_?)del
|
|
|
NC_000004.12:g.(?_127957491)_(127957602_?)dup
|
|
|
NC_000004.12:g.(?_127965052)_(127965153_?)del
|
|
|
NC_000004.12:g.(?_127965062)_(127965143_?)del
|
|
|
NM_001371596.2(MFSD8):c.*1280T>A
|
rs146441639
|
|
NM_001371596.2(MFSD8):c.*1603C>T
|
rs536079775
|
|
NM_001371596.2(MFSD8):c.*1709G>C
|
rs1736073397
|
|
NM_001371596.2(MFSD8):c.*1918T>C
|
rs1736059247
|
|
NM_001371596.2(MFSD8):c.*1969G>C
|
rs547746685
|
|
NM_001371596.2(MFSD8):c.*2010T>C
|
rs1736052846
|
|
NM_001371596.2(MFSD8):c.*208C>T
|
rs886059069
|
|
NM_001371596.2(MFSD8):c.*2369C>G
|
rs150664430
|
|
NM_001371596.2(MFSD8):c.*414C>A
|
rs566768714
|
|
NM_001371596.2(MFSD8):c.*492A>T
|
rs534206104
|
|
NM_001371596.2(MFSD8):c.*839C>A
|
rs886059067
|
|
NM_001371596.2(MFSD8):c.*842T>G
|
rs1736132516
|
|
NM_001371596.2(MFSD8):c.1001T>C (p.Ile334Thr)
|
|
|
NM_001371596.2(MFSD8):c.1002T>C (p.Ile334=)
|
|
|
NM_001371596.2(MFSD8):c.1005C>A (p.Gly335=)
|
rs772735057
|
|
NM_001371596.2(MFSD8):c.1005C>T (p.Gly335=)
|
|
|
NM_001371596.2(MFSD8):c.1006G>A (p.Glu336Lys)
|
rs150418024
|
|
NM_001371596.2(MFSD8):c.1008G>A (p.Glu336=)
|
|
|
NM_001371596.2(MFSD8):c.1009C>T (p.Arg337Cys)
|
|
|
NM_001371596.2(MFSD8):c.1010G>C (p.Arg337Pro)
|
rs200386040
|
|
NM_001371596.2(MFSD8):c.1013C>A (p.Ala338Asp)
|
|
|
NM_001371596.2(MFSD8):c.1014T>A (p.Ala338=)
|
rs2148841418
|
|
NM_001371596.2(MFSD8):c.1016T>G (p.Ile339Ser)
|
rs2148841393
|
|
NM_001371596.2(MFSD8):c.1020A>C (p.Leu340=)
|
|
|
NM_001371596.2(MFSD8):c.1024G>C (p.Gly342Arg)
|
|
|
NM_001371596.2(MFSD8):c.1029A>G (p.Gly343=)
|
rs1220404877
|
|
NM_001371596.2(MFSD8):c.1029A>T (p.Gly343=)
|
|
|
NM_001371596.2(MFSD8):c.102C>T (p.Ser34=)
|
rs139212190
|
|
NM_001371596.2(MFSD8):c.1032C>T (p.Leu344=)
|
|
|
NM_001371596.2(MFSD8):c.1033_1038delinsCC (p.Ile345fs)
|
|
|
NM_001371596.2(MFSD8):c.1036del (p.Val346fs)
|
rs1439582451
|
|
NM_001371596.2(MFSD8):c.1039G>A (p.Val347Ile)
|
|
|
NM_001371596.2(MFSD8):c.1040dup (p.Trp348fs)
|
rs1560718555
|
|
NM_001371596.2(MFSD8):c.1047T>G (p.Val349=)
|
rs2148841201
|
|
NM_001371596.2(MFSD8):c.1050C>T (p.Gly350=)
|
rs2148841187
|
|
NM_001371596.2(MFSD8):c.105A>G (p.Arg35=)
|
|
|
NM_001371596.2(MFSD8):c.105A>T (p.Arg35=)
|
|
|
NM_001371596.2(MFSD8):c.1060T>C (p.Leu354=)
|
rs2148841165
|
|
NM_001371596.2(MFSD8):c.1064T>G (p.Leu355Ter)
|
rs2148841110
|
|
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr)
|
rs756204684
|
|
NM_001371596.2(MFSD8):c.106T>C (p.Trp36Arg)
|
rs200001979
|
|
NM_001371596.2(MFSD8):c.1071G>A (p.Trp357Ter)
|
|
|
NM_001371596.2(MFSD8):c.1072G>A (p.Gly358Arg)
|
rs781391960
|
|
NM_001371596.2(MFSD8):c.1086C>G (p.Pro362=)
|
|
|
NM_001371596.2(MFSD8):c.1086del (p.Ile364fs)
|
rs1460276679
|
|
NM_001371596.2(MFSD8):c.1090del (p.Ile364fs)
|
rs2148840973
|
|
NM_001371596.2(MFSD8):c.1093C>G (p.Gln365Glu)
|
rs904329013
|
|
NM_001371596.2(MFSD8):c.1094A>G (p.Gln365Arg)
|
|
|
NM_001371596.2(MFSD8):c.1095G>A (p.Gln365=)
|
rs1578795529
|
|
NM_001371596.2(MFSD8):c.1096T>C (p.Trp366Arg)
|
|
|
NM_001371596.2(MFSD8):c.10C>T (p.Leu4=)
|
|
|
NM_001371596.2(MFSD8):c.1102+11A>T
|
|
|
NM_001371596.2(MFSD8):c.1102+12C>T
|
|
|
NM_001371596.2(MFSD8):c.1102+14T>C
|
rs765323039
|
|
NM_001371596.2(MFSD8):c.1102+18T>A
|
|
|
NM_001371596.2(MFSD8):c.1102+1G>A
|
|
|
NM_001371596.2(MFSD8):c.1102+2T>C
|
|
|
NM_001371596.2(MFSD8):c.1102G>C (p.Asp368His)
|
rs727502800
|
|
NM_001371596.2(MFSD8):c.1103-10_1103-6del
|
rs1212979817
|
|
NM_001371596.2(MFSD8):c.1103-10_1103-8del
|
|
|
NM_001371596.2(MFSD8):c.1103-11del
|
|
|
NM_001371596.2(MFSD8):c.1103-16G>A
|
|
|
NM_001371596.2(MFSD8):c.1103-18A>T
|
|
|
NM_001371596.2(MFSD8):c.1103-2A>T
|
|
|
NM_001371596.2(MFSD8):c.1103-2del
|
rs1736369601
|
|
NM_001371596.2(MFSD8):c.1103-4A>G
|
|
|
NM_001371596.2(MFSD8):c.1103-5T>C
|
rs2148840518
|
|
NM_001371596.2(MFSD8):c.1103-9T>G
|
|
|
NM_001371596.2(MFSD8):c.1103A>G (p.Asp368Gly)
|
|
|
NM_001371596.2(MFSD8):c.1106T>C (p.Leu369Ser)
|
rs2148840460
|
|
NM_001371596.2(MFSD8):c.1109A>T (p.His370Leu)
|
rs1578794999
|
|
NM_001371596.2(MFSD8):c.110G>A (p.Arg37Lys)
|
|
|
NM_001371596.2(MFSD8):c.110G>T (p.Arg37Ile)
|
rs915454873
|
|
NM_001371596.2(MFSD8):c.1112A>G (p.Asn371Ser)
|
|
|
NM_001371596.2(MFSD8):c.1113del (p.Asn371fs)
|
rs2148840426
|
|
NM_001371596.2(MFSD8):c.1119_1122del (p.Ile374fs)
|
|
|
NM_001371596.2(MFSD8):c.1120A>G (p.Ile374Val)
|
rs1736367637
|
|
NM_001371596.2(MFSD8):c.1120del (p.Ile374fs)
|
rs2148840396
|
|
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs)
|
rs1578794927
|
|
NM_001371596.2(MFSD8):c.112T>G (p.Ser38Ala)
|
|
|
NM_001371596.2(MFSD8):c.1131C>T (p.Thr377=)
|
rs760689362
|
|
NM_001371596.2(MFSD8):c.1135T>A (p.Phe379Ile)
|
|
|
NM_001371596.2(MFSD8):c.1140G>T (p.Gly380=)
|
|
|
NM_001371596.2(MFSD8):c.1146T>A (p.Ile382=)
|
rs2148840260
|
|
NM_001371596.2(MFSD8):c.1149T>C (p.Ile383=)
|
|
|
NM_001371596.2(MFSD8):c.114T>C (p.Ser38=)
|
rs2148972697
|
|
NM_001371596.2(MFSD8):c.1151T>C (p.Ile384Thr)
|
|
|
NM_001371596.2(MFSD8):c.1155T>C (p.Gly385=)
|
rs1736362173
|
|
NM_001371596.2(MFSD8):c.1158_1167del (p.Trp387fs)
|
rs2148840216
|
|
NM_001371596.2(MFSD8):c.115A>G (p.Ile39Val)
|
rs201739608
|
|
NM_001371596.2(MFSD8):c.115A>T (p.Ile39Phe)
|
rs201739608
|
|
NM_001371596.2(MFSD8):c.1161G>C (p.Trp387Cys)
|
|
|
NM_001371596.2(MFSD8):c.1168C>G (p.Pro390Ala)
|
rs767262517
|
|
NM_001371596.2(MFSD8):c.1170A>G (p.Pro390=)
|
rs2148840190
|
|
NM_001371596.2(MFSD8):c.1171A>G (p.Met391Val)
|
|
|
NM_001371596.2(MFSD8):c.1172T>C (p.Met391Thr)
|
|
|
NM_001371596.2(MFSD8):c.1176A>C (p.Glu392Asp)
|
|
|
NM_001371596.2(MFSD8):c.1178A>T (p.Asp393Val)
|
rs762336516
|
|
NM_001371596.2(MFSD8):c.1179T>C (p.Asp393=)
|
|
|
NM_001371596.2(MFSD8):c.1188A>G (p.Glu396=)
|
|
|
NM_001371596.2(MFSD8):c.1190G>T (p.Arg397Ile)
|
rs1736357135
|
|
NM_001371596.2(MFSD8):c.1196C>T (p.Thr399Ile)
|
|
|
NM_001371596.2(MFSD8):c.119G>C (p.Arg40Thr)
|
|
|
NM_001371596.2(MFSD8):c.1206G>T (p.Ser402=)
|
rs772377066
|
|
NM_001371596.2(MFSD8):c.1208T>A (p.Ile403Asn)
|
|
|
NM_001371596.2(MFSD8):c.1208T>C (p.Ile403Thr)
|
|
|
NM_001371596.2(MFSD8):c.1213C>T (p.Gln405Ter)
|
rs778875017
|
|
NM_001371596.2(MFSD8):c.1217C>G (p.Ala406Gly)
|
|
|
NM_001371596.2(MFSD8):c.1217_1218dup (p.Trp407fs)
|
rs2148839960
|
|
NM_001371596.2(MFSD8):c.1225C>G (p.Leu409Val)
|
|
|
NM_001371596.2(MFSD8):c.1227C>T (p.Leu409=)
|
|
|
NM_001371596.2(MFSD8):c.1229dup (p.Tyr410Ter)
|
rs2148839909
|
|
NM_001371596.2(MFSD8):c.1230C>T (p.Tyr410=)
|
rs1057520928
|
|
NM_001371596.2(MFSD8):c.1231A>G (p.Thr411Ala)
|
rs755570201
|
|
NM_001371596.2(MFSD8):c.1234_1235inv (p.Pro412Gly)
|
|
|
NM_001371596.2(MFSD8):c.1235del (p.Pro412fs)
|
|
|
NM_001371596.2(MFSD8):c.1236G>A (p.Pro412=)
|
|
|
NM_001371596.2(MFSD8):c.1236G>C (p.Pro412=)
|
|
|
NM_001371596.2(MFSD8):c.1249G>A (p.Ala417Thr)
|
|
|
NM_001371596.2(MFSD8):c.1257C>T (p.Phe419=)
|
rs750743360
|
|
NM_001371596.2(MFSD8):c.1263A>G (p.Thr421=)
|
|
|
NM_001371596.2(MFSD8):c.1266A>G (p.Ser422=)
|
|
|
NM_001371596.2(MFSD8):c.1267G>C (p.Ala423Pro)
|
|
|
NM_001371596.2(MFSD8):c.126A>G (p.Leu42=)
|
|
|
NM_001371596.2(MFSD8):c.1273C>T (p.Leu425=)
|
|
|
NM_001371596.2(MFSD8):c.1278A>G (p.Ile426Met)
|
rs769272117
|
|
NM_001371596.2(MFSD8):c.1280G>T (p.Gly427Val)
|
|
|
NM_001371596.2(MFSD8):c.1286G>A (p.Gly429Asp)
|
rs118203976
|
|
NM_001371596.2(MFSD8):c.1287C>G (p.Gly429=)
|
|
|
NM_001371596.2(MFSD8):c.1291C>G (p.Pro431Ala)
|
rs2148839575
|
|
NM_001371596.2(MFSD8):c.12G>A (p.Leu4=)
|
|
|
NM_001371596.2(MFSD8):c.1310C>A (p.Ser437Tyr)
|
rs1464046484
|
|
NM_001371596.2(MFSD8):c.1314T>C (p.Tyr438=)
|
rs2148839504
|
|
NM_001371596.2(MFSD8):c.1316_1322del (p.Thr439fs)
|
rs2148839459
|
|
NM_001371596.2(MFSD8):c.1318C>G (p.Leu440Val)
|
rs879270594
|
|
NM_001371596.2(MFSD8):c.1323T>C (p.Tyr441=)
|
|
|
NM_001371596.2(MFSD8):c.1325C>A (p.Ser442Ter)
|
rs953995815
|
|
NM_001371596.2(MFSD8):c.1337del (p.Gly446fs)
|
|
|
NM_001371596.2(MFSD8):c.133dup (p.Thr45fs)
|
|
|
NM_001371596.2(MFSD8):c.1344A>G (p.Lys448=)
|
|
|
NM_001371596.2(MFSD8):c.1350+14C>A
|
rs1311770324
|
|
NM_001371596.2(MFSD8):c.1350+16T>C
|
|
|
NM_001371596.2(MFSD8):c.1350+17G>A
|
|
|
NM_001371596.2(MFSD8):c.1350+19C>T
|
|
|
NM_001371596.2(MFSD8):c.1350+1G>A
|
|
|
NM_001371596.2(MFSD8):c.1350+2T>C
|
rs1736332381
|
|
NM_001371596.2(MFSD8):c.1350+8A>G
|
rs1736330551
|
|
NM_001371596.2(MFSD8):c.1351-11_1351-10insAT
|
|
|
NM_001371596.2(MFSD8):c.1351-5A>G
|
rs1560716066
|
|
NM_001371596.2(MFSD8):c.1351-6del
|
rs777941105
|
|
NM_001371596.2(MFSD8):c.1351-7C>A
|
|
|
NM_001371596.2(MFSD8):c.1351-7C>T
|
|
|
NM_001371596.2(MFSD8):c.1351-9C>A
|
rs75039907
|
|
NM_001371596.2(MFSD8):c.1351-9C>G
|
|
|
NM_001371596.2(MFSD8):c.1351-9C>T
|
rs75039907
|
|
NM_001371596.2(MFSD8):c.1354_1369del (p.Gly451_Val452insTer)
|
rs2148837382
|
|
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)
|
rs559155109
|
|
NM_001371596.2(MFSD8):c.136_137del (p.Met46fs)
|
rs2148972564
|
|
NM_001371596.2(MFSD8):c.1378T>C (p.Ser460Pro)
|
|
|
NM_001371596.2(MFSD8):c.1383A>C (p.Gly461=)
|
|
|
NM_001371596.2(MFSD8):c.1387G>A (p.Gly463Arg)
|
|
|
NM_001371596.2(MFSD8):c.1390G>A (p.Ala464Thr)
|
|
|
NM_001371596.2(MFSD8):c.1392C>T (p.Ala464=)
|
|
|
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp)
|
rs1043984708
|
|
NM_001371596.2(MFSD8):c.1399C>A (p.Leu467Ile)
|
rs754100928
|
|
NM_001371596.2(MFSD8):c.1401T>A (p.Leu467=)
|
|
|
NM_001371596.2(MFSD8):c.1403G>A (p.Gly468Glu)
|
rs1560715852
|
|
NM_001371596.2(MFSD8):c.1404G>C (p.Gly468=)
|
rs2148837253
|
|
NM_001371596.2(MFSD8):c.1408A>G (p.Met470Val)
|
rs764549054
|
|
NM_001371596.2(MFSD8):c.1412del (p.Phe471fs)
|
|
|
NM_001371596.2(MFSD8):c.1415T>A (p.Ile472Asn)
|
|
|
NM_001371596.2(MFSD8):c.1416C>A (p.Ile472=)
|
|
|
NM_001371596.2(MFSD8):c.1417A>G (p.Ser473Gly)
|
rs1736228639
|
|
NM_001371596.2(MFSD8):c.1418G>A (p.Ser473Asn)
|
|
|
NM_001371596.2(MFSD8):c.1420C>G (p.Gln474Glu)
|
|
|
NM_001371596.2(MFSD8):c.1420C>T (p.Gln474Ter)
|
rs370663969
|
|
NM_001371596.2(MFSD8):c.1425G>A (p.Val475=)
|
rs1736226991
|
|
NM_001371596.2(MFSD8):c.1427A>G (p.Tyr476Cys)
|
rs1291422135
|
|
NM_001371596.2(MFSD8):c.1429G>A (p.Ala477Thr)
|
rs878855229
|
|
NM_001371596.2(MFSD8):c.1431T>G (p.Ala477=)
|
|
|
NM_001371596.2(MFSD8):c.1433A>T (p.His478Leu)
|
rs1736225136
|
|
NM_001371596.2(MFSD8):c.1434C>A (p.His478Gln)
|
rs2148837142
|
|
NM_001371596.2(MFSD8):c.1434C>T (p.His478=)
|
rs2148837142
|
|
NM_001371596.2(MFSD8):c.1437G>A (p.Trp479Ter)
|
rs2148837137
|
|
NM_001371596.2(MFSD8):c.1441C>G (p.Pro481Ala)
|
|
|
NM_001371596.2(MFSD8):c.144C>T (p.Leu48=)
|
rs2148972539
|
|
NM_001371596.2(MFSD8):c.1452A>G (p.Ala484=)
|
rs2148837080
|
|
NM_001371596.2(MFSD8):c.1458_1459delinsAA (p.Ser486_Leu487delinsArgMet)
|
|
|
NM_001371596.2(MFSD8):c.145A>G (p.Ser49Gly)
|
|
|
NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=)
|
rs1477527807
|
|
NM_001371596.2(MFSD8):c.1474A>G (p.Ile492Val)
|
|
|
NM_001371596.2(MFSD8):c.147C>T (p.Ser49=)
|
|
|
NM_001371596.2(MFSD8):c.1480C>T (p.Leu494Phe)
|
|
|
NM_001371596.2(MFSD8):c.1485C>T (p.Thr495=)
|
rs2148836945
|
|
NM_001371596.2(MFSD8):c.1488C>A (p.Ile496=)
|
rs2148836936
|
|
NM_001371596.2(MFSD8):c.148A>T (p.Ser50Cys)
|
rs1355810376
|
|
NM_001371596.2(MFSD8):c.1490C>T (p.Thr497Ile)
|
|
|
NM_001371596.2(MFSD8):c.1494C>T (p.Leu498=)
|
rs769642042
|
|
NM_001371596.2(MFSD8):c.1495C>T (p.Leu499=)
|
rs1553943451
|
|
NM_001371596.2(MFSD8):c.14G>A (p.Arg5Gln)
|
rs139409959
|
|
NM_001371596.2(MFSD8):c.1509C>A (p.Tyr503Ter)
|
|
|
NM_001371596.2(MFSD8):c.150T>C (p.Ser50=)
|
|
|
NM_001371596.2(MFSD8):c.1511A>G (p.Lys504Arg)
|
rs1736213182
|
|
NM_001371596.2(MFSD8):c.1516C>G (p.Leu506Val)
|
rs570757797
|
|
NM_001371596.2(MFSD8):c.1517T>C (p.Leu506Pro)
|
rs1736211859
|
|
NM_001371596.2(MFSD8):c.1521T>G (p.Ile507Met)
|
rs779560159
|
|
NM_001371596.2(MFSD8):c.1533A>G (p.Val511=)
|
rs2148836761
|
|
NM_001371596.2(MFSD8):c.1534A>G (p.Arg512Gly)
|
rs745541140
|
|
NM_001371596.2(MFSD8):c.1539T>C (p.Tyr513=)
|
|
|
NM_001371596.2(MFSD8):c.153A>G (p.Val51=)
|
rs587781037
|
|
NM_001371596.2(MFSD8):c.154+11_154+13del
|
|
|
NM_001371596.2(MFSD8):c.154+13A>G
|
|
|
NM_001371596.2(MFSD8):c.154+17C>G
|
|
|
NM_001371596.2(MFSD8):c.154+17C>T
|
|
|
NM_001371596.2(MFSD8):c.154+19T>C
|
rs1057521818
|
|
NM_001371596.2(MFSD8):c.154+1G>A
|
|
|
NM_001371596.2(MFSD8):c.154+4_154+7del
|
|
|
NM_001371596.2(MFSD8):c.154+7A>G
|
rs2148972452
|
|
NM_001371596.2(MFSD8):c.154+8T>G
|
rs2148972443
|
|
NM_001371596.2(MFSD8):c.154G>A (p.Gly52Arg)
|
|
|
NM_001371596.2(MFSD8):c.155-10T>C
|
|
|
NM_001371596.2(MFSD8):c.155-10T>G
|
rs1343380061
|
|
NM_001371596.2(MFSD8):c.155-11C>T
|
|
|
NM_001371596.2(MFSD8):c.155-12G>A
|
|
|
NM_001371596.2(MFSD8):c.155-19C>T
|
|
|
NM_001371596.2(MFSD8):c.155-19del
|
|
|
NM_001371596.2(MFSD8):c.155-20C>T
|
rs2148944010
|
|
NM_001371596.2(MFSD8):c.155-8C>T
|
rs2148943930
|
|
NM_001371596.2(MFSD8):c.155-8del
|
|
|
NM_001371596.2(MFSD8):c.155-9del
|
rs1060504501
|
|
NM_001371596.2(MFSD8):c.1554A>G (p.Glu518=)
|
|
|
NM_001371596.2(MFSD8):c.1556A>G (p.Ter519=)
|
|
|
NM_001371596.2(MFSD8):c.1557A>C (p.Ter519Tyr)
|
rs2148836666
|
|
NM_001371596.2(MFSD8):c.161del (p.Ser54fs)
|
rs1560764227
|
|
NM_001371596.2(MFSD8):c.162T>C (p.Ser54=)
|
|
|
NM_001371596.2(MFSD8):c.163G>A (p.Val55Ile)
|
|
|
NM_001371596.2(MFSD8):c.165A>G (p.Val55=)
|
|
|
NM_001371596.2(MFSD8):c.168G>T (p.Val56=)
|
rs1741654669
|
|
NM_001371596.2(MFSD8):c.16A>C (p.Asn6His)
|
|
|
NM_001371596.2(MFSD8):c.170T>C (p.Met57Thr)
|
rs895772342
|
|
NM_001371596.2(MFSD8):c.173T>C (p.Met58Thr)
|
rs1578944380
|
|
NM_001371596.2(MFSD8):c.174G>T (p.Met58Ile)
|
|
|
NM_001371596.2(MFSD8):c.17A>C (p.Asn6Thr)
|
rs2149008801
|
|
NM_001371596.2(MFSD8):c.186A>C (p.Pro62=)
|
rs750969105
|
|
NM_001371596.2(MFSD8):c.186A>T (p.Pro62=)
|
rs750969105
|
|
NM_001371596.2(MFSD8):c.18C>T (p.Asn6=)
|
|
|
NM_001371596.2(MFSD8):c.192C>A (p.Leu64=)
|
rs1741648648
|
|
NM_001371596.2(MFSD8):c.195A>G (p.Gln65=)
|
rs2148943646
|
|
NM_001371596.2(MFSD8):c.198+14A>T
|
|
|
NM_001371596.2(MFSD8):c.198+16T>A
|
|
|
NM_001371596.2(MFSD8):c.198+17C>A
|
|
|
NM_001371596.2(MFSD8):c.198+18T>G
|
|
|
NM_001371596.2(MFSD8):c.198+1G>A
|
|
|
NM_001371596.2(MFSD8):c.198+2T>C
|
rs2148943607
|
|
NM_001371596.2(MFSD8):c.198+7A>G
|
rs776834172
|
|
NM_001371596.2(MFSD8):c.199-12C>A
|
|
|
NM_001371596.2(MFSD8):c.199-12C>G
|
|
|
NM_001371596.2(MFSD8):c.199-13C>T
|
rs1740632149
|
|
NM_001371596.2(MFSD8):c.199-16G>A
|
rs971319854
|
|
NM_001371596.2(MFSD8):c.199-16G>C
|
|
|
NM_001371596.2(MFSD8):c.199-17T>C
|
|
|
NM_001371596.2(MFSD8):c.199-1G>A
|
|
|
NM_001371596.2(MFSD8):c.199-1G>C
|
rs1449062348
|
|
NM_001371596.2(MFSD8):c.199-2A>G
|
rs1578912759
|
|
NM_001371596.2(MFSD8):c.199-5T>C
|
rs1578912790
|
|
NM_001371596.2(MFSD8):c.199-8T>G
|
rs112721309
|
|
NM_001371596.2(MFSD8):c.199-8_199-7insGG
|
rs2148922788
|
|
NM_001371596.2(MFSD8):c.1A>G (p.Met1Val)
|
|
|
NM_001371596.2(MFSD8):c.204T>C (p.Asp68=)
|
|
|
NM_001371596.2(MFSD8):c.213T>C (p.Ala71=)
|
|
|
NM_001371596.2(MFSD8):c.216T>C (p.Asp72=)
|
|
|
NM_001371596.2(MFSD8):c.219A>C (p.Thr73=)
|
|
|
NM_001371596.2(MFSD8):c.225T>C (p.Phe75=)
|
rs2148922604
|
|
NM_001371596.2(MFSD8):c.235G>C (p.Val79Leu)
|
rs749244700
|
|
NM_001371596.2(MFSD8):c.235G>T (p.Val79Phe)
|
rs749244700
|
|
NM_001371596.2(MFSD8):c.23G>C (p.Ser8Thr)
|
rs780548594
|
|
NM_001371596.2(MFSD8):c.240T>C (p.Ile80=)
|
rs1578912301
|
|
NM_001371596.2(MFSD8):c.240T>G (p.Ile80Met)
|
rs1578912301
|
|
NM_001371596.2(MFSD8):c.245C>T (p.Ser82Leu)
|
rs2148922530
|
|
NM_001371596.2(MFSD8):c.246A>C (p.Ser82=)
|
|
|
NM_001371596.2(MFSD8):c.246A>G (p.Ser82=)
|
rs2148922522
|
|
NM_001371596.2(MFSD8):c.248A>G (p.Tyr83Cys)
|
rs1740619758
|
|
NM_001371596.2(MFSD8):c.249T>C (p.Tyr83=)
|
rs2148922498
|
|
NM_001371596.2(MFSD8):c.249_250dup (p.Ser84fs)
|
|
|
NM_001371596.2(MFSD8):c.24T>C (p.Ser8=)
|
rs2149008674
|
|
NM_001371596.2(MFSD8):c.251G>A (p.Ser84Asn)
|
|
|
NM_001371596.2(MFSD8):c.259C>T (p.Gln87Ter)
|
rs1300341137
|
|
NM_001371596.2(MFSD8):c.268G>C (p.Ala90Pro)
|
rs1553950970
|
|
NM_001371596.2(MFSD8):c.27_33delinsCC (p.Glu9fs)
|
rs1744829646
|
|
NM_001371596.2(MFSD8):c.291G>A (p.Trp97Ter)
|
|
|
NM_001371596.2(MFSD8):c.291del (p.Trp97fs)
|
|
|
NM_001371596.2(MFSD8):c.294T>A (p.Ser98=)
|
|
|
NM_001371596.2(MFSD8):c.29A>G (p.Gln10Arg)
|
|
|
NM_001371596.2(MFSD8):c.2T>A (p.Met1Lys)
|
|
|
NM_001371596.2(MFSD8):c.2T>C (p.Met1Thr)
|
|
|
NM_001371596.2(MFSD8):c.306A>T (p.Pro102=)
|
rs746201253
|
|
NM_001371596.2(MFSD8):c.319C>G (p.Leu107Val)
|
|
|
NM_001371596.2(MFSD8):c.32A>G (p.Glu11Gly)
|
rs1485138561
|
|
NM_001371596.2(MFSD8):c.348A>G (p.Ala116=)
|
rs2148922108
|
|
NM_001371596.2(MFSD8):c.356G>A (p.Cys119Tyr)
|
|
|
NM_001371596.2(MFSD8):c.356_357insA (p.Cys119Ter)
|
|
|
NM_001371596.2(MFSD8):c.357C>T (p.Cys119=)
|
rs1553950874
|
|
NM_001371596.2(MFSD8):c.358C>G (p.Leu120Val)
|
|
|
NM_001371596.2(MFSD8):c.360C>T (p.Leu120=)
|
rs2148922029
|
|
NM_001371596.2(MFSD8):c.362A>C (p.Tyr121Ser)
|
rs118203978
|
|
NM_001371596.2(MFSD8):c.362A>G (p.Tyr121Cys)
|
rs118203978
|
|
NM_001371596.2(MFSD8):c.362_363del (p.Tyr121fs)
|
rs2148922004
|
|
NM_001371596.2(MFSD8):c.363T>C (p.Tyr121=)
|
|
|
NM_001371596.2(MFSD8):c.366A>G (p.Ala122=)
|
rs1283789637
|
|
NM_001371596.2(MFSD8):c.36G>T (p.Pro12=)
|
rs1053504874
|
|
NM_001371596.2(MFSD8):c.372C>T (p.Leu124=)
|
|
|
NM_001371596.2(MFSD8):c.373C>T (p.His125Tyr)
|
rs1560754109
|
|
NM_001371596.2(MFSD8):c.375C>T (p.His125=)
|
rs1578911454
|
|
NM_001371596.2(MFSD8):c.378C>T (p.Ile126=)
|
|
|
NM_001371596.2(MFSD8):c.379C>A (p.Pro127Thr)
|
|
|
NM_001371596.2(MFSD8):c.37C>T (p.Leu13Phe)
|
rs150892838
|
|
NM_001371596.2(MFSD8):c.380C>T (p.Pro127Leu)
|
|
|
NM_001371596.2(MFSD8):c.381A>G (p.Pro127=)
|
|
|
NM_001371596.2(MFSD8):c.393T>C (p.Asn131=)
|
rs1553950849
|
|
NM_001371596.2(MFSD8):c.39C>G (p.Leu13=)
|
|
|
NM_001371596.2(MFSD8):c.402C>T (p.Tyr134=)
|
|
|
NM_001371596.2(MFSD8):c.408G>T (p.Leu136=)
|
rs1578911241
|
|
NM_001371596.2(MFSD8):c.411T>C (p.Val137=)
|
rs201652718
|
|
NM_001371596.2(MFSD8):c.414T>G (p.Ala138=)
|
|
|
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys)
|
rs993001712
|
|
NM_001371596.2(MFSD8):c.416G>T (p.Arg139Leu)
|
|
|
NM_001371596.2(MFSD8):c.420A>G (p.Gly140=)
|
|
|
NM_001371596.2(MFSD8):c.422T>C (p.Leu141Ser)
|
rs1740590363
|
|
NM_001371596.2(MFSD8):c.423G>T (p.Leu141Phe)
|
rs1462440516
|
|
NM_001371596.2(MFSD8):c.424T>C (p.Leu142=)
|
rs2148921676
|
|
NM_001371596.2(MFSD8):c.428G>A (p.Gly143Glu)
|
|
|
NM_001371596.2(MFSD8):c.42A>G (p.Leu14=)
|
|
|
NM_001371596.2(MFSD8):c.433G>A (p.Gly145Arg)
|
|
|
NM_001371596.2(MFSD8):c.439+12T>G
|
|
|
NM_001371596.2(MFSD8):c.439+13G>A
|
|
|
NM_001371596.2(MFSD8):c.439+15A>G
|
|
|
NM_001371596.2(MFSD8):c.439+15A>T
|
|
|
NM_001371596.2(MFSD8):c.439+17A>G
|
|
|
NM_001371596.2(MFSD8):c.439+17_439+18del
|
|
|
NM_001371596.2(MFSD8):c.439+18T>C
|
|
|
NM_001371596.2(MFSD8):c.439+20_439+23del
|
rs1740580816
|
|
NM_001371596.2(MFSD8):c.439+2T>A
|
|
|
NM_001371596.2(MFSD8):c.439+4A>G
|
rs751782767
|
|
NM_001371596.2(MFSD8):c.439+5G>A
|
|
|
NM_001371596.2(MFSD8):c.439+6G>A
|
|
|
NM_001371596.2(MFSD8):c.439+6G>T
|
|
|
NM_001371596.2(MFSD8):c.439+9G>T
|
rs1339979382
|
|
NM_001371596.2(MFSD8):c.440-14G>A
|
|
|
NM_001371596.2(MFSD8):c.440-16G>A
|
|
|
NM_001371596.2(MFSD8):c.440-2A>T
|
rs751696703
|
|
NM_001371596.2(MFSD8):c.440-7T>A
|
rs2148915878
|
|
NM_001371596.2(MFSD8):c.440-7T>G
|
|
|
NM_001371596.2(MFSD8):c.440-9G>A
|
|
|
NM_001371596.2(MFSD8):c.447A>G (p.Val149=)
|
|
|
NM_001371596.2(MFSD8):c.453T>C (p.Val151=)
|
rs750205976
|
|
NM_001371596.2(MFSD8):c.454G>T (p.Val152Phe)
|
rs2148915793
|
|
NM_001371596.2(MFSD8):c.459A>G (p.Arg153=)
|
rs2148915775
|
|
NM_001371596.2(MFSD8):c.459A>T (p.Arg153Ser)
|
|
|
NM_001371596.2(MFSD8):c.45C>A (p.Gly15=)
|
|
|
NM_001371596.2(MFSD8):c.462A>G (p.Ser154=)
|
rs2148915757
|
|
NM_001371596.2(MFSD8):c.467C>T (p.Thr156Ile)
|
rs1740291651
|
|
NM_001371596.2(MFSD8):c.468_469delinsCC (p.Ala157Pro)
|
rs1740291234
|
|
NM_001371596.2(MFSD8):c.46G>A (p.Asp16Asn)
|
rs752624076
|
|
NM_001371596.2(MFSD8):c.475G>T (p.Ala159Ser)
|
rs1740290508
|
|
NM_001371596.2(MFSD8):c.483C>T (p.Ser161=)
|
rs2148915652
|
|
NM_001371596.2(MFSD8):c.496A>G (p.Thr166Ala)
|
|
|
NM_001371596.2(MFSD8):c.4G>A (p.Ala2Thr)
|
|
|
NM_001371596.2(MFSD8):c.503C>T (p.Ser168Phe)
|
|
|
NM_001371596.2(MFSD8):c.511A>G (p.Asn171Asp)
|
|
|
NM_001371596.2(MFSD8):c.513C>A (p.Asn171Lys)
|
|
|
NM_001371596.2(MFSD8):c.514A>G (p.Ile172Val)
|
rs540305093
|
|
NM_001371596.2(MFSD8):c.519C>T (p.Ser173=)
|
|
|
NM_001371596.2(MFSD8):c.525T>A (p.Cys175Ter)
|
rs556661896
|
|
NM_001371596.2(MFSD8):c.525T>C (p.Cys175=)
|
rs556661896
|
|
NM_001371596.2(MFSD8):c.529G>A (p.Ala177Thr)
|
rs1560751131
|
|
NM_001371596.2(MFSD8):c.52C>T (p.Pro18Ser)
|
rs2149008240
|
|
NM_001371596.2(MFSD8):c.531_537del (p.Gly179fs)
|
rs1271198944
|
|
NM_001371596.2(MFSD8):c.534A>G (p.Leu178=)
|
rs1740280377
|
|
NM_001371596.2(MFSD8):c.541A>C (p.Ile181Leu)
|
rs770057458
|
|
NM_001371596.2(MFSD8):c.541A>G (p.Ile181Val)
|
rs770057458
|
|
NM_001371596.2(MFSD8):c.553+16A>T
|
|
|
NM_001371596.2(MFSD8):c.553+18_553+19del
|
|
|
NM_001371596.2(MFSD8):c.553+1G>A
|
rs1553950197
|
|
NM_001371596.2(MFSD8):c.553+3A>G
|
|
|
NM_001371596.2(MFSD8):c.553G>C (p.Val185Leu)
|
rs1740277571
|
|
NM_001371596.2(MFSD8):c.554-10T>C
|
|
|
NM_001371596.2(MFSD8):c.554-17A>G
|
|
|
NM_001371596.2(MFSD8):c.554-1G>C
|
rs773886985
|
|
NM_001371596.2(MFSD8):c.554-4T>A
|
|
|
NM_001371596.2(MFSD8):c.554-7T>C
|
|
|
NM_001371596.2(MFSD8):c.562A>G (p.Thr188Ala)
|
rs1739868697
|
|
NM_001371596.2(MFSD8):c.562A>T (p.Thr188Ser)
|
rs1739868697
|
|
NM_001371596.2(MFSD8):c.563C>T (p.Thr188Ile)
|
|
|
NM_001371596.2(MFSD8):c.572C>T (p.Thr191Ile)
|
|
|
NM_001371596.2(MFSD8):c.573A>T (p.Thr191=)
|
|
|
NM_001371596.2(MFSD8):c.578T>A (p.Leu193His)
|
rs914063167
|
|
NM_001371596.2(MFSD8):c.579T>C (p.Leu193=)
|
|
|
NM_001371596.2(MFSD8):c.590del (p.Gly197fs)
|
rs776253867
|
|
NM_001371596.2(MFSD8):c.593_594del (p.Val198fs)
|
rs1407346059
|
|
NM_001371596.2(MFSD8):c.597A>G (p.Thr199=)
|
|
|
NM_001371596.2(MFSD8):c.598T>C (p.Trp200Arg)
|
rs2148907604
|
|
NM_001371596.2(MFSD8):c.599G>A (p.Trp200Ter)
|
rs558274487
|
|
NM_001371596.2(MFSD8):c.5C>T (p.Ala2Val)
|
rs867524398
|
|
NM_001371596.2(MFSD8):c.600G>A (p.Trp200Ter)
|
|
|
NM_001371596.2(MFSD8):c.616C>T (p.Gln206Ter)
|
rs1209722075
|
|
NM_001371596.2(MFSD8):c.62+18G>A
|
|
|
NM_001371596.2(MFSD8):c.62+18G>T
|
|
|
NM_001371596.2(MFSD8):c.62+4A>C
|
|
|
NM_001371596.2(MFSD8):c.62+8G>A
|
rs2149008103
|
|
NM_001371596.2(MFSD8):c.621A>G (p.Ile207Met)
|
|
|
NM_001371596.2(MFSD8):c.624C>T (p.Asn208=)
|
rs2148907532
|
|
NM_001371596.2(MFSD8):c.627_643del (p.Met209fs)
|
rs1578889355
|
|
NM_001371596.2(MFSD8):c.63-12_63-10del
|
rs2148973081
|
|
NM_001371596.2(MFSD8):c.63-13del
|
|
|
NM_001371596.2(MFSD8):c.63-14T>A
|
|
|
NM_001371596.2(MFSD8):c.63-15C>T
|
|
|
NM_001371596.2(MFSD8):c.63-16T>C
|
rs2148973104
|
|
NM_001371596.2(MFSD8):c.63-16del
|
rs749859985
|
|
NM_001371596.2(MFSD8):c.63-16dup
|
|
|
NM_001371596.2(MFSD8):c.63-1G>A
|
rs1314967038
|
|
NM_001371596.2(MFSD8):c.63-4del
|
rs755011754
|
|
NM_001371596.2(MFSD8):c.63-652_74del
|
rs1743097125
|
|
NM_001371596.2(MFSD8):c.63-8A>G
|
rs751480930
|
|
NM_001371596.2(MFSD8):c.63-8A>T
|
|
|
NM_001371596.2(MFSD8):c.630T>C (p.Tyr210=)
|
rs2148907497
|
|
NM_001371596.2(MFSD8):c.631A>G (p.Thr211Ala)
|
|
|
NM_001371596.2(MFSD8):c.639A>C (p.Pro213=)
|
|
|
NM_001371596.2(MFSD8):c.639A>G (p.Pro213=)
|
|
|
NM_001371596.2(MFSD8):c.64G>T (p.Glu22Ter)
|
rs1560776422
|
|
NM_001371596.2(MFSD8):c.654C>A (p.Ala218=)
|
|
|
NM_001371596.2(MFSD8):c.654C>T (p.Ala218=)
|
rs766992766
|
|
NM_001371596.2(MFSD8):c.658C>G (p.Leu220Val)
|
rs142063476
|
|
NM_001371596.2(MFSD8):c.658C>T (p.Leu220=)
|
rs142063476
|
|
NM_001371596.2(MFSD8):c.65_66del (p.Glu22fs)
|
rs2148972962
|
|
NM_001371596.2(MFSD8):c.662G>A (p.Gly221Glu)
|
rs2148907334
|
|
NM_001371596.2(MFSD8):c.66A>G (p.Glu22=)
|
rs145529594
|
|
NM_001371596.2(MFSD8):c.670A>C (p.Asn224His)
|
|
|
NM_001371596.2(MFSD8):c.674T>G (p.Ile225Ser)
|
|
|
NM_001371596.2(MFSD8):c.675T>C (p.Ile225=)
|
rs1739848967
|
|
NM_001371596.2(MFSD8):c.680T>C (p.Leu227Pro)
|
rs2148907246
|
|
NM_001371596.2(MFSD8):c.68G>A (p.Trp23Ter)
|
|
|
NM_001371596.2(MFSD8):c.690dup (p.Ile231fs)
|
rs2148907184
|
|
NM_001371596.2(MFSD8):c.693A>T (p.Ile231=)
|
|
|
NM_001371596.2(MFSD8):c.694C>T (p.Leu232=)
|
rs2148907140
|
|
NM_001371596.2(MFSD8):c.695T>C (p.Leu232Pro)
|
|
|
NM_001371596.2(MFSD8):c.695T>G (p.Leu232Arg)
|
|
|
NM_001371596.2(MFSD8):c.698+10_698+13del
|
rs1739839175
|
|
NM_001371596.2(MFSD8):c.698+15A>G
|
|
|
NM_001371596.2(MFSD8):c.698+16T>C
|
|
|
NM_001371596.2(MFSD8):c.698+17G>C
|
|
|
NM_001371596.2(MFSD8):c.698+18A>G
|
|
|
NM_001371596.2(MFSD8):c.698+7A>G
|
rs1437168458
|
|
NM_001371596.2(MFSD8):c.699-17G>A
|
|
|
NM_001371596.2(MFSD8):c.699-1G>A
|
rs1739594685
|
|
NM_001371596.2(MFSD8):c.699-1G>C
|
rs1739594685
|
|
NM_001371596.2(MFSD8):c.699-2A>G
|
|
|
NM_001371596.2(MFSD8):c.699-4T>C
|
rs2148902864
|
|
NM_001371596.2(MFSD8):c.699-4del
|
rs2148902873
|
|
NM_001371596.2(MFSD8):c.6C>G (p.Ala2=)
|
rs1261295844
|
|
NM_001371596.2(MFSD8):c.704A>T (p.His235Leu)
|
rs886059070
|
|
NM_001371596.2(MFSD8):c.708T>G (p.Arg236=)
|
rs2148902785
|
|
NM_001371596.2(MFSD8):c.718T>C (p.Ser240Pro)
|
|
|
NM_001371596.2(MFSD8):c.724A>G (p.Arg242Gly)
|
|
|
NM_001371596.2(MFSD8):c.727C>T (p.Gln243Ter)
|
|
|
NM_001371596.2(MFSD8):c.72C>A (p.Asp24Glu)
|
rs775812921
|
|
NM_001371596.2(MFSD8):c.735A>G (p.Lys245=)
|
rs2148902676
|
|
NM_001371596.2(MFSD8):c.738dup (p.Ile247fs)
|
|
|
NM_001371596.2(MFSD8):c.742_746del (p.Ile247_Asn248insTer)
|
|
|
NM_001371596.2(MFSD8):c.748G>C (p.Glu250Gln)
|
|
|
NM_001371596.2(MFSD8):c.750A>G (p.Glu250=)
|
rs2148902616
|
|
NM_001371596.2(MFSD8):c.753A>G (p.Glu251=)
|
|
|
NM_001371596.2(MFSD8):c.754+11C>T
|
|
|
NM_001371596.2(MFSD8):c.754+16T>C
|
|
|
NM_001371596.2(MFSD8):c.754+1G>A
|
rs868732642
|
|
NM_001371596.2(MFSD8):c.754+1G>T
|
rs868732642
|
|
NM_001371596.2(MFSD8):c.754G>T (p.Ala252Ser)
|
rs1739583922
|
|
NM_001371596.2(MFSD8):c.755-14C>A
|
|
|
NM_001371596.2(MFSD8):c.755-15C>A
|
rs767947557
|
|
NM_001371596.2(MFSD8):c.755-15C>T
|
|
|
NM_001371596.2(MFSD8):c.755-18T>C
|
|
|
NM_001371596.2(MFSD8):c.755-1G>A
|
|
|
NM_001371596.2(MFSD8):c.755-2A>C
|
|
|
NM_001371596.2(MFSD8):c.755-4A>G
|
rs766510873
|
|
NM_001371596.2(MFSD8):c.755-7C>T
|
rs2148882528
|
|
NM_001371596.2(MFSD8):c.759T>C (p.Ser253=)
|
rs2148882499
|
|
NM_001371596.2(MFSD8):c.765T>C (p.Asp255=)
|
|
|
NM_001371596.2(MFSD8):c.773A>T (p.Gln258Leu)
|
rs2148882430
|
|
NM_001371596.2(MFSD8):c.776T>A (p.Val259Asp)
|
rs1553947509
|
|
NM_001371596.2(MFSD8):c.780C>G (p.Pro260=)
|
|
|
NM_001371596.2(MFSD8):c.782A>C (p.Gln261Pro)
|
|
|
NM_001371596.2(MFSD8):c.792T>A (p.Ile264=)
|
rs1738427095
|
|
NM_001371596.2(MFSD8):c.798G>A (p.Gln266=)
|
rs2148882297
|
|
NM_001371596.2(MFSD8):c.7G>A (p.Gly3Ser)
|
rs773799172
|
|
NM_001371596.2(MFSD8):c.807T>C (p.Val269=)
|
rs1199001687
|
|
NM_001371596.2(MFSD8):c.809T>C (p.Val270Ala)
|
rs200284184
|
|
NM_001371596.2(MFSD8):c.818A>G (p.Asn273Ser)
|
|
|
NM_001371596.2(MFSD8):c.820G>A (p.Val274Ile)
|
rs745354809
|
|
NM_001371596.2(MFSD8):c.821T>C (p.Val274Ala)
|
|
|
NM_001371596.2(MFSD8):c.823_824del (p.Leu275fs)
|
|
|
NM_001371596.2(MFSD8):c.831dup (p.Val278fs)
|
rs775699005
|
|
NM_001371596.2(MFSD8):c.842_845del (p.Phe281fs)
|
|
|
NM_001371596.2(MFSD8):c.84T>C (p.Thr28=)
|
|
|
NM_001371596.2(MFSD8):c.850G>T (p.Ala284Ser)
|
|
|
NM_001371596.2(MFSD8):c.863+14C>T
|
|
|
NM_001371596.2(MFSD8):c.863+15A>C
|
|
|
NM_001371596.2(MFSD8):c.863+15A>G
|
|
|
NM_001371596.2(MFSD8):c.863+1G>A
|
rs200319160
|
|
NM_001371596.2(MFSD8):c.863+1G>C
|
|
|
NM_001371596.2(MFSD8):c.863+1G>T
|
rs200319160
|
|
NM_001371596.2(MFSD8):c.863+1del
|
|
|
NM_001371596.2(MFSD8):c.863+20C>A
|
|
|
NM_001371596.2(MFSD8):c.863+2dup
|
|
|
NM_001371596.2(MFSD8):c.863+3_863+4insT
|
rs727502801
|
|
NM_001371596.2(MFSD8):c.863+995_998+1480del
|
|
|
NM_001371596.2(MFSD8):c.864-10T>C
|
|
|
NM_001371596.2(MFSD8):c.864-14T>C
|
|
|
NM_001371596.2(MFSD8):c.864-15T>A
|
|
|
NM_001371596.2(MFSD8):c.864-17_864-15del
|
|
|
NM_001371596.2(MFSD8):c.864-19A>T
|
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|
NM_001371596.2(MFSD8):c.864-20A>T
|
|
|
NM_001371596.2(MFSD8):c.864-2A>G
|
|
|
NM_001371596.2(MFSD8):c.864-6del
|
rs200526922
|
|
NM_001371596.2(MFSD8):c.864-6dup
|
rs200526922
|
|
NM_001371596.2(MFSD8):c.864-8_864-6del
|
rs200526922
|
|
NM_001371596.2(MFSD8):c.873T>A (p.Thr291=)
|
rs1737992977
|
|
NM_001371596.2(MFSD8):c.878del (p.Pro292_Leu293insTer)
|
rs2148873794
|
|
NM_001371596.2(MFSD8):c.87A>G (p.Glu29=)
|
|
|
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)
|
rs140948465
|
|
NM_001371596.2(MFSD8):c.882A>G (p.Thr294=)
|
|
|
NM_001371596.2(MFSD8):c.885G>A (p.Met295Ile)
|
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|
NM_001371596.2(MFSD8):c.887A>T (p.Asp296Val)
|
|
|
NM_001371596.2(MFSD8):c.888T>C (p.Asp296=)
|
|
|
NM_001371596.2(MFSD8):c.889A>C (p.Met297Leu)
|
rs1419909769
|
|
NM_001371596.2(MFSD8):c.889A>G (p.Met297Val)
|
|
|
NM_001371596.2(MFSD8):c.894T>C (p.Tyr298=)
|
rs118203977
|
|
NM_001371596.2(MFSD8):c.894T>G (p.Tyr298Ter)
|
rs118203977
|
|
NM_001371596.2(MFSD8):c.897C>G (p.Ala299=)
|
rs747352043
|
|
NM_001371596.2(MFSD8):c.900G>A (p.Trp300Ter)
|
|
|
NM_001371596.2(MFSD8):c.901A>G (p.Thr301Ala)
|
|
|
NM_001371596.2(MFSD8):c.902C>A (p.Thr301Asn)
|
|
|
NM_001371596.2(MFSD8):c.910C>A (p.Gln304Lys)
|
rs1737985759
|
|
NM_001371596.2(MFSD8):c.917T>C (p.Val306Ala)
|
|
|
NM_001371596.2(MFSD8):c.918G>A (p.Val306=)
|
rs2148873600
|
|
NM_001371596.2(MFSD8):c.918del (p.Leu307fs)
|
|
|
NM_001371596.2(MFSD8):c.919T>C (p.Leu307=)
|
rs1737983796
|
|
NM_001371596.2(MFSD8):c.926A>G (p.Asn309Ser)
|
rs1737983004
|
|
NM_001371596.2(MFSD8):c.929G>A (p.Gly310Asp)
|
rs118203975
|
|
NM_001371596.2(MFSD8):c.929G>C (p.Gly310Ala)
|
rs118203975
|
|
NM_001371596.2(MFSD8):c.930C>T (p.Gly310=)
|
|
|
NM_001371596.2(MFSD8):c.932_935dup (p.Leu313fs)
|
rs1737980148
|
|
NM_001371596.2(MFSD8):c.933A>T (p.Ile311=)
|
rs2148873518
|
|
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr)
|
rs556875684
|
|
NM_001371596.2(MFSD8):c.939T>G (p.Leu313=)
|
|
|
NM_001371596.2(MFSD8):c.939del (p.Ala314fs)
|
|
|
NM_001371596.2(MFSD8):c.93T>C (p.His31=)
|
|
|
NM_001371596.2(MFSD8):c.944C>A (p.Ala315Asp)
|
rs767331120
|
|
NM_001371596.2(MFSD8):c.945T>C (p.Ala315=)
|
rs2148873447
|
|
NM_001371596.2(MFSD8):c.958G>C (p.Ala320Pro)
|
rs1737976227
|
|
NM_001371596.2(MFSD8):c.963T>A (p.Val321=)
|
|
|
NM_001371596.2(MFSD8):c.963T>C (p.Val321=)
|
rs762491362
|
|
NM_001371596.2(MFSD8):c.96T>C (p.Tyr32=)
|
rs1014332712
|
|
NM_001371596.2(MFSD8):c.974T>G (p.Leu325Ter)
|
|
|
NM_001371596.2(MFSD8):c.979del (p.Val327fs)
|
|
|
NM_001371596.2(MFSD8):c.993C>T (p.Ser331=)
|
rs2148873268
|
|
NM_001371596.2(MFSD8):c.995A>C (p.Lys332Thr)
|
rs2148873265
|
|
NM_001371596.2(MFSD8):c.998+11T>G
|
|
|
NM_001371596.2(MFSD8):c.998+13T>C
|
rs1737968072
|
|
NM_001371596.2(MFSD8):c.998+17T>G
|
|
|
NM_001371596.2(MFSD8):c.998+18G>T
|
|
|
NM_001371596.2(MFSD8):c.998+1G>C
|
|
|
NM_001371596.2(MFSD8):c.998+2T>G
|
|
|
NM_001371596.2(MFSD8):c.998+4A>G
|
rs796052745
|
|
NM_001371596.2(MFSD8):c.998+9A>G
|
|
|
NM_001371596.2(MFSD8):c.999-10T>C
|
|
|
NM_001371596.2(MFSD8):c.999-1G>A
|
rs2148841537
|
|
NM_001371596.2(MFSD8):c.999-4A>G
|
|
|
NM_001371596.2(MFSD8):c.999-4A>T
|
rs910246095
|
|
NM_001371596.2(MFSD8):c.999G>A (p.Lys333=)
|
rs1057520312
|
|