ClinVar Miner

List of variants in gene SLC2A10 studied for Arterial tortuosity syndrome

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Gene type:
ClinVar version:
Total variants: 489
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HGVS dbSNP gnomAD frequency
NM_030777.4(SLC2A10):c.*2176T>C rs1059217 0.40292
NM_030777.4(SLC2A10):c.*2285T>G rs1136540 0.40283
NM_030777.4(SLC2A10):c.*2365T>A rs1136544 0.39312
NM_030777.4(SLC2A10):c.*1293T>C rs707507 0.38738
NM_030777.4(SLC2A10):c.1547+18T>G rs2425906 0.37519
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12280
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg) rs41283344 0.05817
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala) rs6018008 0.02748
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val) rs7348121 0.02113
NM_030777.4(SLC2A10):c.*56A>G rs112821000 0.02108
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) rs79849424 0.01835
NM_030777.4(SLC2A10):c.*143G>A rs35691491 0.01384
NM_030777.4(SLC2A10):c.*334A>G rs6018010 0.01363
NM_030777.4(SLC2A10):c.*280C>T rs6018009 0.01292
NM_030777.4(SLC2A10):c.-27C>T rs149481442 0.01226
NM_030777.4(SLC2A10):c.*1340G>A rs78189695 0.01153
NM_030777.4(SLC2A10):c.1288+10G>A rs76315093 0.00886
NM_030777.4(SLC2A10):c.*1100T>G rs6094450 0.00880
NM_030777.4(SLC2A10):c.*50T>C rs36103903 0.00845
NM_030777.4(SLC2A10):c.1548-18G>A rs113496485 0.00749
NM_030777.4(SLC2A10):c.*641G>A rs113629687 0.00741
NM_030777.4(SLC2A10):c.*478G>A rs113058599 0.00698
NM_030777.4(SLC2A10):c.*32T>C rs78864327 0.00696
NM_030777.4(SLC2A10):c.*513T>C rs111352987 0.00693
NM_030777.4(SLC2A10):c.*809C>T rs114681513 0.00646
NM_030777.4(SLC2A10):c.*958C>T rs189464814 0.00562
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=) rs114974138 0.00514
NM_030777.4(SLC2A10):c.*1449T>C rs181344940 0.00451
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=) rs139155480 0.00339
NM_030777.4(SLC2A10):c.*180A>G rs188370349 0.00321
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241 0.00302
NM_030777.4(SLC2A10):c.*29C>G rs34965637 0.00247
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=) rs116344406 0.00241
NM_030777.4(SLC2A10):c.*194G>T rs192739192 0.00240
NM_030777.4(SLC2A10):c.*389C>G rs147684335 0.00233
NM_030777.4(SLC2A10):c.*1272G>C rs562491351 0.00185
NM_030777.4(SLC2A10):c.-15C>T rs377142129 0.00164
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=) rs142431229 0.00100
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala) rs150745395 0.00070
NM_030777.4(SLC2A10):c.1415C>T (p.Thr472Ile) rs563376340 0.00061
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00060
NM_030777.4(SLC2A10):c.*401C>A rs142547155 0.00056
NM_030777.4(SLC2A10):c.1548-19C>T rs144623242 0.00046
NM_030777.4(SLC2A10):c.*410A>C rs146660985 0.00039
NM_030777.4(SLC2A10):c.*1758A>C rs529567587 0.00033
NM_030777.4(SLC2A10):c.1289-6C>T rs199967429 0.00033
NM_030777.4(SLC2A10):c.676G>A (p.Asp226Asn) rs142402955 0.00032
NM_030777.4(SLC2A10):c.746A>G (p.Asn249Ser) rs531533787 0.00031
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) rs139932041 0.00026
NM_030777.4(SLC2A10):c.696C>G (p.Thr232=) rs138679634 0.00025
NM_030777.4(SLC2A10):c.*1731C>T rs762351956 0.00023
NM_030777.4(SLC2A10):c.1079A>G (p.Asn360Ser) rs139117495 0.00023
NM_030777.4(SLC2A10):c.1481A>G (p.Tyr494Cys) rs374854180 0.00021
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00020
NM_030777.4(SLC2A10):c.1008C>T (p.Thr336=) rs370173604 0.00019
NM_030777.4(SLC2A10):c.388C>T (p.Arg130Trp) rs201150247 0.00019
NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile) rs372561968 0.00019
NM_030777.4(SLC2A10):c.1593G>A (p.Pro531=) rs148424607 0.00017
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) rs181500247 0.00017
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026 0.00015
NM_030777.4(SLC2A10):c.1559G>A (p.Ser520Asn) rs573480396 0.00015
NM_030777.4(SLC2A10):c.315C>T (p.Arg105=) rs150800734 0.00015
NM_030777.4(SLC2A10):c.808G>A (p.Val270Met) rs749220947 0.00015
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met) rs372596900 0.00015
NM_030777.4(SLC2A10):c.1453A>G (p.Thr485Ala) rs138245283 0.00014
NM_030777.4(SLC2A10):c.1324G>C (p.Glu442Gln) rs143265363 0.00013
NM_030777.4(SLC2A10):c.1600C>T (p.Arg534Cys) rs142577271 0.00013
NM_030777.4(SLC2A10):c.*191C>T rs774020636 0.00012
NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys) rs370141550 0.00012
NM_030777.4(SLC2A10):c.*116C>T rs377528530 0.00011
NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr) rs147710229 0.00011
NM_030777.4(SLC2A10):c.1411+2T>A rs761721442 0.00011
NM_030777.4(SLC2A10):c.1547+19G>A rs546525339 0.00011
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479 0.00011
NM_030777.4(SLC2A10):c.1208G>A (p.Arg403Gln) rs199912561 0.00010
NM_030777.4(SLC2A10):c.4+14G>C rs750912876 0.00010
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg) rs75218052 0.00010
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504 0.00010
NM_030777.4(SLC2A10):c.*2203C>A rs528071290 0.00009
NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys) rs562212724 0.00009
NM_030777.4(SLC2A10):c.1344C>T (p.Phe448=) rs553831434 0.00009
NM_030777.4(SLC2A10):c.1412-3C>T rs374857656 0.00009
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00009
NM_030777.4(SLC2A10):c.792T>C (p.His264=) rs377031320 0.00009
NM_030777.4(SLC2A10):c.162G>C (p.Leu54=) rs778830075 0.00008
NM_030777.4(SLC2A10):c.1401C>T (p.Leu467=) rs774586341 0.00007
NM_030777.4(SLC2A10):c.581C>T (p.Thr194Ile) rs763889166 0.00007
NM_030777.4(SLC2A10):c.1411+16A>G rs751264767 0.00006
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=) rs142639587 0.00006
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=) rs148470005 0.00006
NM_030777.4(SLC2A10):c.610G>A (p.Gly204Ser) rs755339268 0.00006
NM_030777.4(SLC2A10):c.797G>T (p.Gly266Val) rs369484751 0.00006
NM_030777.4(SLC2A10):c.949G>A (p.Val317Ile) rs781230863 0.00006
NM_030777.4(SLC2A10):c.*1000C>T rs886056733 0.00005
NM_030777.4(SLC2A10):c.*1162C>T rs185898725 0.00005
NM_030777.4(SLC2A10):c.*2316C>T rs757116033 0.00005
NM_030777.4(SLC2A10):c.-60G>T rs886056722 0.00005
NM_030777.4(SLC2A10):c.395G>A (p.Arg132Gln) rs376346077 0.00005
NM_030777.4(SLC2A10):c.878G>A (p.Arg293His) rs770882223 0.00005
NM_030777.4(SLC2A10):c.*2409A>G rs986161128 0.00004
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn) rs367623970 0.00004
NM_030777.4(SLC2A10):c.1203C>T (p.Pro401=) rs368021257 0.00004
NM_030777.4(SLC2A10):c.1234G>A (p.Ala412Thr) rs746203433 0.00004
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) rs121908172 0.00004
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 0.00004
NM_030777.4(SLC2A10):c.443T>C (p.Leu148Pro) rs863223732 0.00004
NM_030777.4(SLC2A10):c.644G>A (p.Arg215Gln) rs774497964 0.00004
NM_030777.4(SLC2A10):c.671C>G (p.Ala224Gly) rs371261694 0.00004
NM_030777.4(SLC2A10):c.680A>G (p.Asn227Ser) rs959288629 0.00004
NM_030777.4(SLC2A10):c.807C>T (p.Ala269=) rs144705080 0.00004
NM_030777.4(SLC2A10):c.924C>T (p.Ala308=) rs377173165 0.00004
NM_030777.4(SLC2A10):c.*1628T>A rs886056734 0.00003
NM_030777.4(SLC2A10):c.119T>C (p.Phe40Ser) rs372166877 0.00003
NM_030777.4(SLC2A10):c.1351T>G (p.Cys451Gly) rs199599532 0.00003
NM_030777.4(SLC2A10):c.1377C>T (p.Asn459=) rs756207829 0.00003
NM_030777.4(SLC2A10):c.1402G>A (p.Asp468Asn) rs768345011 0.00003
NM_030777.4(SLC2A10):c.1412-13C>T rs371888996 0.00003
NM_030777.4(SLC2A10):c.1446C>T (p.Tyr482=) rs150398871 0.00003
NM_030777.4(SLC2A10):c.1513T>C (p.Leu505=) rs2515599264 0.00003
NM_030777.4(SLC2A10):c.1547G>A (p.Arg516Gln) rs760437795 0.00003
NM_030777.4(SLC2A10):c.1566C>T (p.Gly522=) rs1980421137 0.00003
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=) rs886056727 0.00003
NM_030777.4(SLC2A10):c.189G>C (p.Leu63=) rs890578209 0.00003
NM_030777.4(SLC2A10):c.306C>T (p.Val102=) rs530216827 0.00003
NM_030777.4(SLC2A10):c.314G>A (p.Arg105His) rs753280877 0.00003
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile) rs373375540 0.00003
NM_030777.4(SLC2A10):c.699A>C (p.Thr233=) rs546032251 0.00003
NM_030777.4(SLC2A10):c.747C>T (p.Asn249=) rs41283042 0.00003
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp) rs145994112 0.00003
NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys) rs768142427 0.00003
NM_030777.4(SLC2A10):c.923C>T (p.Ala308Val) rs776373143 0.00003
NM_030777.4(SLC2A10):c.930C>T (p.Ser310=) rs766454875 0.00003
NM_030777.4(SLC2A10):c.948C>T (p.Leu316=) rs755109002 0.00003
NM_030777.4(SLC2A10):c.-55G>T rs933340480 0.00002
NM_030777.4(SLC2A10):c.1288+19C>T rs934121969 0.00002
NM_030777.4(SLC2A10):c.1288+2T>C rs768848335 0.00002
NM_030777.4(SLC2A10):c.1299T>C (p.Leu433=) rs879632885 0.00002
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) rs370547023 0.00002
NM_030777.4(SLC2A10):c.1443C>G (p.Leu481=) rs1168833604 0.00002
NM_030777.4(SLC2A10):c.1536C>T (p.Phe512=) rs745307904 0.00002
NM_030777.4(SLC2A10):c.1586G>A (p.Gly529Asp) rs750292263 0.00002
NM_030777.4(SLC2A10):c.1601G>A (p.Arg534His) rs746480018 0.00002
NM_030777.4(SLC2A10):c.1616C>T (p.Ala539Val) rs140312420 0.00002
NM_030777.4(SLC2A10):c.416A>G (p.Tyr139Cys) rs139858464 0.00002
NM_030777.4(SLC2A10):c.530T>C (p.Leu177Pro) rs777214287 0.00002
NM_030777.4(SLC2A10):c.643C>T (p.Arg215Trp) rs200565780 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_030777.4(SLC2A10):c.859G>A (p.Ala287Thr) rs780058786 0.00002
NM_030777.4(SLC2A10):c.876C>A (p.Asp292Glu) rs777604168 0.00002
NM_030777.4(SLC2A10):c.887G>A (p.Arg296His) rs558025597 0.00002
NM_030777.4(SLC2A10):c.915C>T (p.Ala305=) rs199975775 0.00002
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe) rs763521707 0.00002
NM_030777.4(SLC2A10):c.977G>A (p.Gly326Asp) rs1366164834 0.00002
NM_030777.4(SLC2A10):c.*1064G>A rs917707348 0.00001
NM_030777.4(SLC2A10):c.*1143G>T rs545129749 0.00001
NM_030777.4(SLC2A10):c.*1249G>A rs940735282 0.00001
NM_030777.4(SLC2A10):c.*1394G>A rs775775371 0.00001
NM_030777.4(SLC2A10):c.*171C>T rs886056728 0.00001
NM_030777.4(SLC2A10):c.*182T>G rs886056729 0.00001
NM_030777.4(SLC2A10):c.*1858T>G rs886056735 0.00001
NM_030777.4(SLC2A10):c.*214T>G rs764533992 0.00001
NM_030777.4(SLC2A10):c.*2254del rs886056737 0.00001
NM_030777.4(SLC2A10):c.*2482T>A rs1414419618 0.00001
NM_030777.4(SLC2A10):c.*414G>T rs1248315391 0.00001
NM_030777.4(SLC2A10):c.*608C>A rs1485666222 0.00001
NM_030777.4(SLC2A10):c.*659G>A rs868705835 0.00001
NM_030777.4(SLC2A10):c.-22A>G rs886056723 0.00001
NM_030777.4(SLC2A10):c.1009G>A (p.Gly337Arg) rs369238826 0.00001
NM_030777.4(SLC2A10):c.1014G>C (p.Gln338His) rs35833600 0.00001
NM_030777.4(SLC2A10):c.1023C>T (p.Leu341=) rs553451325 0.00001
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=) rs1301992983 0.00001
NM_030777.4(SLC2A10):c.1087C>G (p.Gln363Glu) rs886038934 0.00001
NM_030777.4(SLC2A10):c.1096C>T (p.Pro366Ser) rs774664650 0.00001
NM_030777.4(SLC2A10):c.110_121del (p.Gln37_Gly41delinsArg) rs767211470 0.00001
NM_030777.4(SLC2A10):c.1185C>T (p.Leu395=) rs371752807 0.00001
NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu) rs755654519 0.00001
NM_030777.4(SLC2A10):c.120T>C (p.Phe40=) rs202176956 0.00001
NM_030777.4(SLC2A10):c.1233C>T (p.Thr411=) rs778452693 0.00001
NM_030777.4(SLC2A10):c.1269C>T (p.Phe423=) rs1057524067 0.00001
NM_030777.4(SLC2A10):c.1274T>C (p.Phe425Ser) rs546176728 0.00001
NM_030777.4(SLC2A10):c.1288+20A>G rs1979960478 0.00001
NM_030777.4(SLC2A10):c.1288+9A>C rs972796538 0.00001
NM_030777.4(SLC2A10):c.1289-18C>G rs200748428 0.00001
NM_030777.4(SLC2A10):c.1289-3T>G rs537606044 0.00001
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=) rs201159437 0.00001
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) rs763220502 0.00001
NM_030777.4(SLC2A10):c.1334G>A (p.Gly445Glu) rs753723351 0.00001
NM_030777.4(SLC2A10):c.1345G>A (p.Ala449Thr) rs1224390882 0.00001
NM_030777.4(SLC2A10):c.1371G>A (p.Ala457=) rs558894862 0.00001
NM_030777.4(SLC2A10):c.137A>G (p.Glu46Gly) rs756331165 0.00001
NM_030777.4(SLC2A10):c.1408A>T (p.Ile470Phe) rs1055500540 0.00001
NM_030777.4(SLC2A10):c.1411+12C>T rs762576278 0.00001
NM_030777.4(SLC2A10):c.1423T>G (p.Leu475Val) rs754355572 0.00001
NM_030777.4(SLC2A10):c.1426T>C (p.Ser476Pro) rs750625663 0.00001
NM_030777.4(SLC2A10):c.142G>C (p.Glu48Gln) rs1252274574 0.00001
NM_030777.4(SLC2A10):c.1437C>T (p.Phe479=) rs1457956300 0.00001
NM_030777.4(SLC2A10):c.1439T>A (p.Leu480Gln) rs1407824130 0.00001
NM_030777.4(SLC2A10):c.1455C>T (p.Thr485=) rs1285063741 0.00001
NM_030777.4(SLC2A10):c.1457C>A (p.Ala486Asp) rs775211875 0.00001
NM_030777.4(SLC2A10):c.1465G>C (p.Gly489Arg) rs201268555 0.00001
NM_030777.4(SLC2A10):c.1497A>G (p.Glu499=) rs780076629 0.00001
NM_030777.4(SLC2A10):c.1518A>G (p.Ala506=) rs548796220 0.00001
NM_030777.4(SLC2A10):c.1547+14del rs774372851 0.00001
NM_030777.4(SLC2A10):c.1548-9G>C rs763588370 0.00001
NM_030777.4(SLC2A10):c.1560C>T (p.Ser520=) rs960654927 0.00001
NM_030777.4(SLC2A10):c.1606G>A (p.Glu536Lys) rs1238866581 0.00001
NM_030777.4(SLC2A10):c.1611C>G (p.Ile537Met) rs1060502314 0.00001
NM_030777.4(SLC2A10):c.163C>T (p.Leu55Phe) rs745611450 0.00001
NM_030777.4(SLC2A10):c.170G>T (p.Gly57Val) rs369796310 0.00001
NM_030777.4(SLC2A10):c.173C>T (p.Ala58Val) rs141310869 0.00001
NM_030777.4(SLC2A10):c.180C>T (p.Leu60=) rs371988251 0.00001
NM_030777.4(SLC2A10):c.186C>T (p.Ser62=) rs761492208 0.00001
NM_030777.4(SLC2A10):c.195T>A (p.Gly65=) rs1002286842 0.00001
NM_030777.4(SLC2A10):c.219C>T (p.Gly73=) rs1337888457 0.00001
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230 0.00001
NM_030777.4(SLC2A10):c.252G>A (p.Val84=) rs878855129 0.00001
NM_030777.4(SLC2A10):c.259G>A (p.Ala87Thr) rs1319096126 0.00001
NM_030777.4(SLC2A10):c.264C>G (p.Gly88=) rs768512276 0.00001
NM_030777.4(SLC2A10):c.297C>T (p.Ala99=) rs1390850910 0.00001
NM_030777.4(SLC2A10):c.311G>A (p.Gly104Asp) rs1060502311 0.00001
NM_030777.4(SLC2A10):c.331G>A (p.Ala111Thr) rs780949856 0.00001
NM_030777.4(SLC2A10):c.333C>T (p.Ala111=) rs866552939 0.00001
NM_030777.4(SLC2A10):c.356G>A (p.Cys119Tyr) rs1167972669 0.00001
NM_030777.4(SLC2A10):c.367G>A (p.Val123Met) rs770619266 0.00001
NM_030777.4(SLC2A10):c.368T>C (p.Val123Ala) rs1309491576 0.00001
NM_030777.4(SLC2A10):c.389G>A (p.Arg130Gln) rs1438650724 0.00001
NM_030777.4(SLC2A10):c.4+9C>G rs1057521373 0.00001
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=) rs371344477 0.00001
NM_030777.4(SLC2A10):c.455C>T (p.Ala152Val) rs775987124 0.00001
NM_030777.4(SLC2A10):c.475G>T (p.Gly159Cys) rs761947206 0.00001
NM_030777.4(SLC2A10):c.476G>C (p.Gly159Ala) rs983582627 0.00001
NM_030777.4(SLC2A10):c.484del (p.Trp162fs) rs1979855248 0.00001
NM_030777.4(SLC2A10):c.4G>A (p.Gly2Ser) rs1208065053 0.00001
NM_030777.4(SLC2A10):c.501G>A (p.Met167Ile) rs763979126 0.00001
NM_030777.4(SLC2A10):c.505G>A (p.Gly169Ser) rs35151194 0.00001
NM_030777.4(SLC2A10):c.517G>A (p.Ala173Thr) rs1060502312 0.00001
NM_030777.4(SLC2A10):c.562G>C (p.Gly188Arg) rs374246708 0.00001
NM_030777.4(SLC2A10):c.577G>A (p.Ala193Thr) rs780965802 0.00001
NM_030777.4(SLC2A10):c.589G>T (p.Asp197Tyr) rs761874387 0.00001
NM_030777.4(SLC2A10):c.601C>T (p.Leu201Phe) rs199861432 0.00001
NM_030777.4(SLC2A10):c.609A>G (p.Gly203=) rs374470112 0.00001
NM_030777.4(SLC2A10):c.613G>A (p.Glu205Lys) rs917083925 0.00001
NM_030777.4(SLC2A10):c.633G>A (p.Pro211=) rs770919957 0.00001
NM_030777.4(SLC2A10):c.646T>A (p.Tyr216Asn) rs1269438372 0.00001
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) rs1015798796 0.00001
NM_030777.4(SLC2A10):c.666C>T (p.Phe222=) rs776448517 0.00001
NM_030777.4(SLC2A10):c.675C>T (p.Arg225=) rs954404406 0.00001
NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser) rs760225405 0.00001
NM_030777.4(SLC2A10):c.681C>T (p.Asn227=) rs201625851 0.00001
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) rs756457861 0.00001
NM_030777.4(SLC2A10):c.697A>C (p.Thr233Pro) rs190252962 0.00001
NM_030777.4(SLC2A10):c.720C>A (p.Leu240=) rs374985824 0.00001
NM_030777.4(SLC2A10):c.727C>A (p.Gln243Lys) rs1434246419 0.00001
NM_030777.4(SLC2A10):c.737G>A (p.Gly246Glu) rs564317065 0.00001
NM_030777.4(SLC2A10):c.739C>A (p.Gln247Lys) rs1238405484 0.00001
NM_030777.4(SLC2A10):c.810G>C (p.Val270=) rs774452914 0.00001
NM_030777.4(SLC2A10):c.826C>A (p.Leu276Ile) rs760309737 0.00001
NM_030777.4(SLC2A10):c.858C>T (p.Thr286=) rs758420381 0.00001
NM_030777.4(SLC2A10):c.873G>A (p.Val291=) rs755197578 0.00001
NM_030777.4(SLC2A10):c.877C>T (p.Arg293Cys) rs539783215 0.00001
NM_030777.4(SLC2A10):c.886C>T (p.Arg296Cys) rs552106000 0.00001
NM_030777.4(SLC2A10):c.899T>G (p.Leu300Trp) rs771702107 0.00001
NM_030777.4(SLC2A10):c.905C>G (p.Ala302Gly) rs1269792513 0.00001
NM_030777.4(SLC2A10):c.95C>G (p.Ala32Gly) rs1488882150 0.00001
NM_030777.4(SLC2A10):c.960C>T (p.Ala320=) rs369162285 0.00001
NM_030777.4(SLC2A10):c.995T>C (p.Val332Ala) rs570363463 0.00001
NC_000020.10:g.(?_45353660)_(45355645_?)del
NC_000020.10:g.(?_45357972)_(45358147_?)del
NC_000020.10:g.(?_45362375)_(45362493_?)del
NC_000020.11:g.(?_46709717)_(46733854_?)del
NM_030777.4(SLC2A10):c.*1141G>A rs571798872
NM_030777.4(SLC2A10):c.*1230C>T rs1980503486
NM_030777.4(SLC2A10):c.*1502C>T rs1980516262
NM_030777.4(SLC2A10):c.*1715G>A rs1980525551
NM_030777.4(SLC2A10):c.*194G>A rs192739192
NM_030777.4(SLC2A10):c.*2018C>T rs886056736
NM_030777.4(SLC2A10):c.*2098A>G rs1600677122
NM_030777.4(SLC2A10):c.*2137C>G rs1980545509
NM_030777.4(SLC2A10):c.*2150C>A rs6012025
NM_030777.4(SLC2A10):c.*2416_*2418del rs528431199
NM_030777.4(SLC2A10):c.*269del rs113206025
NM_030777.4(SLC2A10):c.*470_*472del rs3091691
NM_030777.4(SLC2A10):c.*472dup rs3091691
NM_030777.4(SLC2A10):c.*579G>C rs1980468037
NM_030777.4(SLC2A10):c.*712A>G rs886056732
NM_030777.4(SLC2A10):c.*852T>C rs747965744
NM_030777.4(SLC2A10):c.*898A>C rs777660140
NM_030777.4(SLC2A10):c.*926C>T rs1980487818
NM_030777.4(SLC2A10):c.1002T>A (p.Asn334Lys) rs377238665
NM_030777.4(SLC2A10):c.1012C>A (p.Gln338Lys) rs1315880375
NM_030777.4(SLC2A10):c.104C>T (p.Pro35Leu) rs758877524
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val) rs200196034
NM_030777.4(SLC2A10):c.10del (p.Ser4fs) rs2515585670
NM_030777.4(SLC2A10):c.1110T>C (p.Thr370=) rs760859018
NM_030777.4(SLC2A10):c.1117A>G (p.Lys373Glu)
NM_030777.4(SLC2A10):c.1129del (p.His377fs)
NM_030777.4(SLC2A10):c.1132C>G (p.Pro378Ala) rs928597934
NM_030777.4(SLC2A10):c.1134C>T (p.Pro378=) rs892020307
NM_030777.4(SLC2A10):c.114T>G (p.Leu38=) rs2123042176
NM_030777.4(SLC2A10):c.1154C>T (p.Ala385Val) rs79849424
NM_030777.4(SLC2A10):c.1162C>T (p.Arg388Trp) rs374891798
NM_030777.4(SLC2A10):c.1168G>A (p.Ala390Thr) rs1281543071
NM_030777.4(SLC2A10):c.1183C>T (p.Leu395Phe) rs1979943098
NM_030777.4(SLC2A10):c.1190G>T (p.Gly397Val)
NM_030777.4(SLC2A10):c.1192C>T (p.Pro398Ser) rs1001679023
NM_030777.4(SLC2A10):c.1203C>A (p.Pro401=) rs368021257
NM_030777.4(SLC2A10):c.1212G>A (p.Gly404=) rs139155480
NM_030777.4(SLC2A10):c.1216G>A (p.Ala406Thr) rs1301553883
NM_030777.4(SLC2A10):c.1217C>A (p.Ala406Glu) rs752635709
NM_030777.4(SLC2A10):c.1219C>T (p.Leu407=) rs1194888660
NM_030777.4(SLC2A10):c.1221G>T (p.Leu407=)
NM_030777.4(SLC2A10):c.1225C>G (p.Arg409Gly) rs562212724
NM_030777.4(SLC2A10):c.1239G>A (p.Leu413=) rs2123051382
NM_030777.4(SLC2A10):c.1248G>C (p.Leu416=) rs2515592953
NM_030777.4(SLC2A10):c.1265C>G (p.Ala422Gly) rs1600668873
NM_030777.4(SLC2A10):c.1289-16T>C
NM_030777.4(SLC2A10):c.1289-2A>G rs2515594540
NM_030777.4(SLC2A10):c.1292C>T (p.Thr431Ile) rs772160405
NM_030777.4(SLC2A10):c.12C>A (p.Ser4=) rs1185805141
NM_030777.4(SLC2A10):c.1305C>A (p.Leu435=) rs201159437
NM_030777.4(SLC2A10):c.1325A>G (p.Glu442Gly) rs2515594774
NM_030777.4(SLC2A10):c.1326G>A (p.Glu442=) rs2123053808
NM_030777.4(SLC2A10):c.1333G>A (p.Gly445Arg)
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_030777.4(SLC2A10):c.1337G>C (p.Arg446Thr) rs761324818
NM_030777.4(SLC2A10):c.1338A>G (p.Arg446=) rs34605643
NM_030777.4(SLC2A10):c.1365C>G (p.Asn455Lys)
NM_030777.4(SLC2A10):c.1375A>C (p.Asn459His) rs781676521
NM_030777.4(SLC2A10):c.1375A>G (p.Asn459Asp) rs781676521
NM_030777.4(SLC2A10):c.1384A>G (p.Ile462Val) rs545801780
NM_030777.4(SLC2A10):c.1387A>C (p.Ser463Arg) rs771091234
NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs) rs1980007276
NM_030777.4(SLC2A10):c.1401C>A (p.Leu467=) rs774586341
NM_030777.4(SLC2A10):c.1403A>G (p.Asp468Gly) rs776612935
NM_030777.4(SLC2A10):c.1411+1G>A rs864309479
NM_030777.4(SLC2A10):c.1411+480_1547+299del
NM_030777.4(SLC2A10):c.1412G>A (p.Gly471Asp) rs774133507
NM_030777.4(SLC2A10):c.1414A>T (p.Thr472Ser) rs1600671602
NM_030777.4(SLC2A10):c.1419C>T (p.Ile473=)
NM_030777.4(SLC2A10):c.1424T>A (p.Leu475Ter) rs2123062030
NM_030777.4(SLC2A10):c.1440G>T (p.Leu480=) rs777798841
NM_030777.4(SLC2A10):c.1446C>A (p.Tyr482Ter)
NM_030777.4(SLC2A10):c.1448G>A (p.Gly483Glu) rs1980151023
NM_030777.4(SLC2A10):c.144G>A (p.Glu48=) rs375145963
NM_030777.4(SLC2A10):c.1456G>A (p.Ala486Thr) rs759205774
NM_030777.4(SLC2A10):c.1465G>T (p.Gly489Cys)
NM_030777.4(SLC2A10):c.1478T>G (p.Ile493Ser)
NM_030777.4(SLC2A10):c.147C>G (p.Phe49Leu) rs1600666532
NM_030777.4(SLC2A10):c.1489G>A (p.Val497Ile) rs758538766
NM_030777.4(SLC2A10):c.1539G>C (p.Gln513His) rs1334989775
NM_030777.4(SLC2A10):c.153G>A (p.Val51=) rs1367206658
NM_030777.4(SLC2A10):c.1544G>A (p.Arg515Lys)
NM_030777.4(SLC2A10):c.1547+16G>A rs765696201
NM_030777.4(SLC2A10):c.1547+16G>C rs765696201
NM_030777.4(SLC2A10):c.1547+16G>T
NM_030777.4(SLC2A10):c.1547+17dup rs761387869
NM_030777.4(SLC2A10):c.1547G>C (p.Arg516Pro) rs760437795
NM_030777.4(SLC2A10):c.1548-10T>C
NM_030777.4(SLC2A10):c.1548-2A>T rs2123074047
NM_030777.4(SLC2A10):c.1573del (p.Gln525fs) rs2123074215
NM_030777.4(SLC2A10):c.1583C>G (p.Thr528Ser) rs1379143650
NM_030777.4(SLC2A10):c.1586G>C (p.Gly529Ala) rs750292263
NM_030777.4(SLC2A10):c.1588A>G (p.Ile530Val) rs2515604963
NM_030777.4(SLC2A10):c.1604T>G (p.Ile535Ser) rs2123074423
NM_030777.4(SLC2A10):c.1611C>A (p.Ile537=) rs1060502314
NM_030777.4(SLC2A10):c.1611C>T (p.Ile537=) rs1060502314
NM_030777.4(SLC2A10):c.163C>A (p.Leu55Ile)
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro) rs1555887820
NM_030777.4(SLC2A10):c.183C>G (p.Ala61=) rs776067514
NM_030777.4(SLC2A10):c.187del (p.Leu63fs)
NM_030777.4(SLC2A10):c.18T>C (p.Pro6=) rs1414654111
NM_030777.4(SLC2A10):c.192T>G (p.Val64=) rs2515586543
NM_030777.4(SLC2A10):c.193G>T (p.Gly65Cys) rs1979815162
NM_030777.4(SLC2A10):c.197G>A (p.Gly66Asp) rs1555887829
NM_030777.4(SLC2A10):c.1A>C (p.Met1Leu)
NM_030777.4(SLC2A10):c.1A>G (p.Met1Val) rs1355346296
NM_030777.4(SLC2A10):c.1A>T (p.Met1Leu)
NM_030777.4(SLC2A10):c.204C>A (p.Leu68=)
NM_030777.4(SLC2A10):c.206T>C (p.Ile69Thr) rs1979816863
NM_030777.4(SLC2A10):c.209A>G (p.Asp70Gly) rs1979817884
NM_030777.4(SLC2A10):c.218G>A (p.Gly73Asp) rs1979819377
NM_030777.4(SLC2A10):c.224A>G (p.Lys75Arg) rs2123043051
NM_030777.4(SLC2A10):c.22del (p.Leu8fs)
NM_030777.4(SLC2A10):c.231C>T (p.Ala77=) rs2515586733
NM_030777.4(SLC2A10):c.237C>T (p.Leu79=) rs201323237
NM_030777.4(SLC2A10):c.246C>T (p.Asn82=) rs2515586814
NM_030777.4(SLC2A10):c.252G>C (p.Val84=) rs878855129
NM_030777.4(SLC2A10):c.258G>A (p.Leu86=)
NM_030777.4(SLC2A10):c.267C>T (p.Ser89=) rs747559824
NM_030777.4(SLC2A10):c.273C>G (p.Thr91=) rs2515587028
NM_030777.4(SLC2A10):c.278G>T (p.Gly93Val) rs769322801
NM_030777.4(SLC2A10):c.289del (p.Ser97fs) rs2515587114
NM_030777.4(SLC2A10):c.291C>T (p.Ser97=)
NM_030777.4(SLC2A10):c.292C>T (p.Leu98=) rs762605429
NM_030777.4(SLC2A10):c.296C>T (p.Ala99Val) rs1163995599
NM_030777.4(SLC2A10):c.297_301del (p.Trp100fs)
NM_030777.4(SLC2A10):c.300G>C (p.Trp100Cys) rs886056725
NM_030777.4(SLC2A10):c.303G>T (p.Leu101=) rs527497095
NM_030777.4(SLC2A10):c.30G>A (p.Leu10=) rs1979798159
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr) rs6094438
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438
NM_030777.4(SLC2A10):c.343_832delinsC (p.Ser115_Ala278delinsPro) rs2515587479
NM_030777.4(SLC2A10):c.345C>T (p.Ser115=)
NM_030777.4(SLC2A10):c.354T>G (p.Ala118=) rs2123044063
NM_030777.4(SLC2A10):c.363C>A (p.Ile121=)
NM_030777.4(SLC2A10):c.365A>G (p.Tyr122Cys) rs1979838213
NM_030777.4(SLC2A10):c.370T>C (p.Ser124Pro) rs2123044219
NM_030777.4(SLC2A10):c.395G>T (p.Arg132Leu) rs376346077
NM_030777.4(SLC2A10):c.397G>A (p.Gly133Arg) rs1555887907
NM_030777.4(SLC2A10):c.4+10G>A rs1978796306
NM_030777.4(SLC2A10):c.4+14G>T rs750912876
NM_030777.4(SLC2A10):c.4+17C>A
NM_030777.4(SLC2A10):c.411C>T (p.Ser137=) rs1979846423
NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter) rs572620317
NM_030777.4(SLC2A10):c.421G>A (p.Ala141Thr) rs756110797
NM_030777.4(SLC2A10):c.425G>T (p.Gly142Val) rs864309480
NM_030777.4(SLC2A10):c.432C>A (p.Thr144=) rs371344477
NM_030777.4(SLC2A10):c.433G>A (p.Val145Met) rs772308135
NM_030777.4(SLC2A10):c.447C>T (p.Leu149=)
NM_030777.4(SLC2A10):c.473_476del (p.Ala158fs) rs2123045055
NM_030777.4(SLC2A10):c.47T>C (p.Leu16Ser) rs2515585839
NM_030777.4(SLC2A10):c.483del (p.Trp162fs) rs2123045187
NM_030777.4(SLC2A10):c.483dup (p.Trp162fs)
NM_030777.4(SLC2A10):c.485G>A (p.Trp162Ter) rs2123045274
NM_030777.4(SLC2A10):c.5-13T>C
NM_030777.4(SLC2A10):c.5-18C>T rs1600666278
NM_030777.4(SLC2A10):c.5-2A>G rs770701918
NM_030777.4(SLC2A10):c.5-7T>G rs1979795209
NM_030777.4(SLC2A10):c.5-9_5-6del rs2123041402
NM_030777.4(SLC2A10):c.5-9_5-7del rs1600666288
NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu) rs540023880
NM_030777.4(SLC2A10):c.504C>T (p.Phe168=) rs540023880
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) rs80358229
NM_030777.4(SLC2A10):c.51G>T (p.Leu17=) rs2515585857
NM_030777.4(SLC2A10):c.520C>G (p.Pro174Ala) rs1271983394
NM_030777.4(SLC2A10):c.533A>G (p.Gln178Arg) rs1326794091
NM_030777.4(SLC2A10):c.54T>A (p.Gly18=) rs772186491
NM_030777.4(SLC2A10):c.557C>T (p.Pro186Leu)
NM_030777.4(SLC2A10):c.560C>T (p.Ala187Val) rs774586340
NM_030777.4(SLC2A10):c.56dup (p.Leu20fs) rs2515585891
NM_030777.4(SLC2A10):c.579A>G (p.Ala193=) rs2515588907
NM_030777.4(SLC2A10):c.58C>T (p.Leu20=)
NM_030777.4(SLC2A10):c.597C>A (p.Ile199=)
NM_030777.4(SLC2A10):c.5G>C (p.Gly2Ala) rs1555887782
NM_030777.4(SLC2A10):c.611G>A (p.Gly204Asp) rs1555887956
NM_030777.4(SLC2A10):c.615G>A (p.Glu205=) rs2123046162
NM_030777.4(SLC2A10):c.617C>T (p.Ala206Val) rs879052180
NM_030777.4(SLC2A10):c.621C>A (p.Pro207=)
NM_030777.4(SLC2A10):c.621C>G (p.Pro207=) rs1222577461
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=) rs748662135
NM_030777.4(SLC2A10):c.628G>T (p.Gly210Cys)
NM_030777.4(SLC2A10):c.632C>G (p.Pro211Arg) rs151324893
NM_030777.4(SLC2A10):c.632C>T (p.Pro211Leu) rs151324893
NM_030777.4(SLC2A10):c.639G>A (p.Arg213=) rs2515589274
NM_030777.4(SLC2A10):c.645G>C (p.Arg215=) rs367742782
NM_030777.4(SLC2A10):c.65T>G (p.Phe22Cys) rs1060502313
NM_030777.4(SLC2A10):c.673C>T (p.Arg225Cys) rs199659394
NM_030777.4(SLC2A10):c.68G>T (p.Gly23Val) rs1979801533
NM_030777.4(SLC2A10):c.699A>G (p.Thr233=) rs546032251
NM_030777.4(SLC2A10):c.712C>T (p.Leu238=)
NM_030777.4(SLC2A10):c.71A>T (p.Tyr24Phe) rs886056724
NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs) rs864309481
NM_030777.4(SLC2A10):c.736G>A (p.Gly246Arg) rs1568985955
NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter) rs864309478
NM_030777.4(SLC2A10):c.774C>T (p.Phe258=)
NM_030777.4(SLC2A10):c.797G>A (p.Gly266Glu) rs369484751
NM_030777.4(SLC2A10):c.801C>T (p.Ser267=) rs2515590230
NM_030777.4(SLC2A10):c.816C>A (p.Ala272=) rs148058006
NM_030777.4(SLC2A10):c.816C>T (p.Ala272=) rs148058006
NM_030777.4(SLC2A10):c.82G>A (p.Val28Ile) rs2515586013
NM_030777.4(SLC2A10):c.831C>A (p.Gly277=) rs142697617
NM_030777.4(SLC2A10):c.831C>T (p.Gly277=) rs142697617
NM_030777.4(SLC2A10):c.851C>A (p.Thr284Asn) rs765689972
NM_030777.4(SLC2A10):c.861C>G (p.Ala287=) rs747254570
NM_030777.4(SLC2A10):c.897G>A (p.Leu299=) rs1979908015
NM_030777.4(SLC2A10):c.897G>C (p.Leu299=) rs1979908015
NM_030777.4(SLC2A10):c.8A>C (p.His3Pro) rs1254965156
NM_030777.4(SLC2A10):c.901C>T (p.Leu301=)
NM_030777.4(SLC2A10):c.961del (p.Val321fs) rs587776599
NM_030777.4(SLC2A10):c.965C>T (p.Pro322Leu) rs886056726
NM_030777.4(SLC2A10):c.976G>C (p.Gly326Arg) rs1445963609
NM_030777.4(SLC2A10):c.979C>A (p.Pro327Thr) rs2515591432
NM_030777.4(SLC2A10):c.991G>T (p.Ala331Ser) rs2123049348
NM_030777.4(SLC2A10):c.996G>A (p.Val332=)
NM_030777.4(SLC2A10):c.9C>T (p.His3=) rs1423610543

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