ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 7

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ClinVar version:
Total variants: 838
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HGVS dbSNP gnomAD frequency
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
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)
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

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