ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 25 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 616
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HGVS dbSNP gnomAD frequency
NM_177550.5(SLC13A5):c.1092C>T (p.Ala364=) rs55698160 0.09029
NM_177550.5(SLC13A5):c.1005C>T (p.Pro335=) rs56224509 0.06724
NM_177550.5(SLC13A5):c.369-14C>T rs218677 0.02396
NM_177550.5(SLC13A5):c.716+11G>C rs7215596 0.01995
NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=) rs61520357 0.00855
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=) rs72836208 0.00241
NM_177550.5(SLC13A5):c.231+6C>A rs138834680 0.00091
NM_177550.5(SLC13A5):c.232-11C>T rs112805825 0.00061
NM_177550.5(SLC13A5):c.716+15G>A rs377090828 0.00046
NM_177550.5(SLC13A5):c.1576-13G>A rs377340234 0.00040
NM_177550.5(SLC13A5):c.369-17C>T rs372696631 0.00040
NM_177550.5(SLC13A5):c.582G>A (p.Gly194=) rs147260918 0.00040
NM_177550.5(SLC13A5):c.690C>T (p.Asn230=) rs146385318 0.00039
NM_177550.5(SLC13A5):c.1230C>T (p.Ile410=) rs149447388 0.00035
NM_177550.5(SLC13A5):c.717-16C>T rs558529852 0.00034
NM_177550.5(SLC13A5):c.801C>T (p.Phe267=) rs200645836 0.00032
NM_177550.5(SLC13A5):c.1095C>G (p.Thr365=) rs139660928 0.00030
NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile) rs146047560 0.00026
NM_177550.5(SLC13A5):c.232-7G>A rs376066820 0.00024
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met) rs372801738 0.00020
NM_177550.5(SLC13A5):c.642C>T (p.Tyr214=) rs148755614 0.00018
NM_177550.5(SLC13A5):c.1276-19C>A rs200223186 0.00017
NM_177550.5(SLC13A5):c.741C>T (p.Leu247=) rs138520827 0.00017
NM_177550.5(SLC13A5):c.1156+9C>T rs201530285 0.00016
NM_177550.5(SLC13A5):c.1395C>T (p.Asn465=) rs150722760 0.00016
NM_177550.5(SLC13A5):c.285C>T (p.Ile95=) rs149068818 0.00016
NM_177550.5(SLC13A5):c.504C>T (p.Ala168=) rs141506210 0.00015
NM_177550.5(SLC13A5):c.144C>T (p.Tyr48=) rs138537951 0.00014
NM_177550.5(SLC13A5):c.927G>A (p.Leu309=) rs141287518 0.00014
NM_177550.5(SLC13A5):c.103-15G>A rs374410291 0.00013
NM_177550.5(SLC13A5):c.1291G>A (p.Val431Met) rs201036096 0.00013
NM_177550.5(SLC13A5):c.752C>T (p.Ala251Val) rs150517372 0.00013
NM_177550.5(SLC13A5):c.882C>T (p.Asn294=) rs143504660 0.00013
NM_177550.5(SLC13A5):c.369-12C>T rs375349735 0.00012
NM_177550.5(SLC13A5):c.681G>A (p.Thr227=) rs139698810 0.00012
NM_177550.5(SLC13A5):c.4G>A (p.Ala2Thr) rs146396085 0.00011
NM_177550.5(SLC13A5):c.60C>T (p.Thr20=) rs141481217 0.00011
NM_177550.5(SLC13A5):c.1077G>A (p.Val359=) rs372363091 0.00010
NM_177550.5(SLC13A5):c.321G>A (p.Lys107=) rs138023567 0.00010
NM_177550.5(SLC13A5):c.357C>T (p.Ala119=) rs748950933 0.00010
NM_177550.5(SLC13A5):c.1365C>T (p.Leu455=) rs572994797 0.00008
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00008
NM_177550.5(SLC13A5):c.931C>T (p.Pro311Ser) rs201678684 0.00008
NM_177550.5(SLC13A5):c.1074T>C (p.Thr358=) rs369156060 0.00007
NM_177550.5(SLC13A5):c.1442G>A (p.Arg481His) rs762789388 0.00007
NM_177550.5(SLC13A5):c.1461G>A (p.Pro487=) rs374067396 0.00007
NM_177550.5(SLC13A5):c.663C>T (p.Thr221=) rs373831482 0.00007
NM_177550.5(SLC13A5):c.862G>A (p.Gly288Arg) rs761215437 0.00007
NM_177550.5(SLC13A5):c.1055+16A>C rs756534283 0.00006
NM_177550.5(SLC13A5):c.1068T>C (p.Asp356=) rs369080598 0.00006
NM_177550.5(SLC13A5):c.1138C>T (p.Arg380Cys) rs377270604 0.00006
NM_177550.5(SLC13A5):c.277G>A (p.Gly93Ser) rs201070023 0.00006
NM_177550.5(SLC13A5):c.548-17C>T rs761273591 0.00006
NM_177550.5(SLC13A5):c.714C>T (p.Asn238=) rs754553205 0.00006
NM_177550.5(SLC13A5):c.1449C>T (p.Ile483=) rs769760541 0.00005
NM_177550.5(SLC13A5):c.498C>T (p.Thr166=) rs906604048 0.00005
NM_177550.5(SLC13A5):c.547+8C>T rs1270343571 0.00005
NM_177550.5(SLC13A5):c.674C>T (p.Thr225Ile) rs182042247 0.00005
NM_177550.5(SLC13A5):c.1006G>A (p.Gly336Ser) rs1187250417 0.00004
NM_177550.5(SLC13A5):c.1156+20C>T rs368150158 0.00004
NM_177550.5(SLC13A5):c.1334C>T (p.Pro445Leu) rs558866003 0.00004
NM_177550.5(SLC13A5):c.1437+18G>A rs371350083 0.00004
NM_177550.5(SLC13A5):c.1441C>T (p.Arg481Cys) rs555139145 0.00004
NM_177550.5(SLC13A5):c.1560C>A (p.Leu520=) rs771239934 0.00004
NM_177550.5(SLC13A5):c.1582A>G (p.Thr528Ala) rs569395560 0.00004
NM_177550.5(SLC13A5):c.1584A>G (p.Thr528=) rs764993670 0.00004
NM_177550.5(SLC13A5):c.232-8C>T rs566063560 0.00004
NM_177550.5(SLC13A5):c.286G>A (p.Val96Met) rs770640829 0.00004
NM_177550.5(SLC13A5):c.320A>G (p.Lys107Arg) rs376995742 0.00004
NM_177550.5(SLC13A5):c.342C>T (p.Leu114=) rs774031315 0.00004
NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile) rs140389204 0.00004
NM_177550.5(SLC13A5):c.441G>A (p.Met147Ile) rs764711084 0.00004
NM_177550.5(SLC13A5):c.489C>T (p.Ser163=) rs372231184 0.00004
NM_177550.5(SLC13A5):c.505G>A (p.Gly169Ser) rs199620361 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.945G>A (p.Ala315=) rs1057522909 0.00004
NM_177550.5(SLC13A5):c.1062C>T (p.Val354=) rs908065981 0.00003
NM_177550.5(SLC13A5):c.1156+15C>G rs367721453 0.00003
NM_177550.5(SLC13A5):c.1172T>C (p.Phe391Ser) rs777258503 0.00003
NM_177550.5(SLC13A5):c.1206C>T (p.Thr402=) rs143869456 0.00003
NM_177550.5(SLC13A5):c.1281G>A (p.Ser427=) rs377534564 0.00003
NM_177550.5(SLC13A5):c.1290C>T (p.Ser430=) rs756166033 0.00003
NM_177550.5(SLC13A5):c.1349T>C (p.Leu450Ser) rs139005493 0.00003
NM_177550.5(SLC13A5):c.1437+20G>A rs1410190409 0.00003
NM_177550.5(SLC13A5):c.1450G>A (p.Gly484Ser) rs779942374 0.00003
NM_177550.5(SLC13A5):c.1485C>G (p.Thr495=) rs907914369 0.00003
NM_177550.5(SLC13A5):c.1645C>T (p.Arg549Trp) rs770090939 0.00003
NM_177550.5(SLC13A5):c.232-15C>T rs199904860 0.00003
NM_177550.5(SLC13A5):c.292G>A (p.Val98Met) rs529524270 0.00003
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His) rs764688100 0.00003
NM_177550.5(SLC13A5):c.338C>T (p.Thr113Met) rs759069275 0.00003
NM_177550.5(SLC13A5):c.368+9G>A rs764226590 0.00003
NM_177550.5(SLC13A5):c.453C>T (p.Ile151=) rs144523287 0.00003
NM_177550.5(SLC13A5):c.468G>T (p.Leu156Phe) rs774491349 0.00003
NM_177550.5(SLC13A5):c.499G>A (p.Glu167Lys) rs373010067 0.00003
NM_177550.5(SLC13A5):c.602G>A (p.Arg201Gln) rs200275193 0.00003
NM_177550.5(SLC13A5):c.654C>T (p.Ile218=) rs547998800 0.00003
NM_177550.5(SLC13A5):c.864G>A (p.Gly288=) rs910523768 0.00003
NM_177550.5(SLC13A5):c.877A>G (p.Lys293Glu) rs759034052 0.00003
NM_177550.5(SLC13A5):c.906G>T (p.Leu302=) rs1334051824 0.00003
NM_177550.5(SLC13A5):c.920G>A (p.Arg307Gln) rs377021126 0.00003
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00003
NM_177550.5(SLC13A5):c.1055+14T>G rs374250891 0.00002
NM_177550.5(SLC13A5):c.1055+15C>A rs764186836 0.00002
NM_177550.5(SLC13A5):c.1127A>G (p.Lys376Arg) rs370020005 0.00002
NM_177550.5(SLC13A5):c.1156+7C>A rs1424052566 0.00002
NM_177550.5(SLC13A5):c.1179C>T (p.Pro393=) rs755751249 0.00002
NM_177550.5(SLC13A5):c.120C>T (p.Tyr40=) rs529673803 0.00002
NM_177550.5(SLC13A5):c.1275+9T>A rs760733802 0.00002
NM_177550.5(SLC13A5):c.1330C>T (p.Pro444Ser) rs765709852 0.00002
NM_177550.5(SLC13A5):c.1420C>T (p.Pro474Ser) rs777285678 0.00002
NM_177550.5(SLC13A5):c.1423A>G (p.Ile475Val) rs1223917376 0.00002
NM_177550.5(SLC13A5):c.1438-20G>A rs1329698702 0.00002
NM_177550.5(SLC13A5):c.1438-4G>A rs901014442 0.00002
NM_177550.5(SLC13A5):c.1447A>G (p.Ile483Val) rs143719876 0.00002
NM_177550.5(SLC13A5):c.1575+10C>A rs576242281 0.00002
NM_177550.5(SLC13A5):c.1628C>A (p.Ala543Asp) rs202208840 0.00002
NM_177550.5(SLC13A5):c.1673C>T (p.Pro558Leu) rs769020153 0.00002
NM_177550.5(SLC13A5):c.20A>G (p.Tyr7Cys) rs568118247 0.00002
NM_177550.5(SLC13A5):c.227G>A (p.Arg76Lys) rs778196660 0.00002
NM_177550.5(SLC13A5):c.276C>T (p.Gly92=) rs771703938 0.00002
NM_177550.5(SLC13A5):c.368+8C>T rs754086132 0.00002
NM_177550.5(SLC13A5):c.368G>A (p.Arg123Gln) rs530676026 0.00002
NM_177550.5(SLC13A5):c.390C>T (p.Gly130=) rs371499002 0.00002
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819 0.00002
NM_177550.5(SLC13A5):c.471G>A (p.Gln157=) rs367895721 0.00002
NM_177550.5(SLC13A5):c.512A>G (p.Glu171Gly) rs1412352155 0.00002
NM_177550.5(SLC13A5):c.675C>T (p.Thr225=) rs766223341 0.00002
NM_177550.5(SLC13A5):c.705C>T (p.Gly235=) rs1375520259 0.00002
NM_177550.5(SLC13A5):c.744G>C (p.Val248=) rs755035537 0.00002
NM_177550.5(SLC13A5):c.771C>T (p.Ala257=) rs1042746956 0.00002
NM_177550.5(SLC13A5):c.802G>A (p.Ala268Thr) rs777184227 0.00002
NM_177550.5(SLC13A5):c.816C>T (p.Leu272=) rs957223943 0.00002
NM_177550.5(SLC13A5):c.861C>T (p.Cys287=) rs148018915 0.00002
NM_177550.5(SLC13A5):c.942C>T (p.Phe314=) rs546617630 0.00002
NM_177550.5(SLC13A5):c.1002C>A (p.Asp334Glu) rs765942920 0.00001
NM_177550.5(SLC13A5):c.1015C>A (p.Pro339Thr) rs1447888403 0.00001
NM_177550.5(SLC13A5):c.1017C>T (p.Pro339=) rs200365614 0.00001
NM_177550.5(SLC13A5):c.102+19C>A rs1434528761 0.00001
NM_177550.5(SLC13A5):c.102+8G>C rs765725969 0.00001
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter) rs150203483 0.00001
NM_177550.5(SLC13A5):c.1033G>T (p.Ala345Ser) rs776529961 0.00001
NM_177550.5(SLC13A5):c.1037G>T (p.Trp346Leu) rs746999375 0.00001
NM_177550.5(SLC13A5):c.1052C>A (p.Thr351Lys) rs1236953307 0.00001
NM_177550.5(SLC13A5):c.1053A>G (p.Thr351=) rs377546507 0.00001
NM_177550.5(SLC13A5):c.1065C>T (p.Ser355=) rs140940366 0.00001
NM_177550.5(SLC13A5):c.1066G>A (p.Asp356Asn) rs151050636 0.00001
NM_177550.5(SLC13A5):c.106G>A (p.Val36Ile) rs1354071715 0.00001
NM_177550.5(SLC13A5):c.1071C>T (p.Ala357=) rs1271211566 0.00001
NM_177550.5(SLC13A5):c.1094C>T (p.Thr365Ile) rs760586654 0.00001
NM_177550.5(SLC13A5):c.1106T>C (p.Ile369Thr) rs773383980 0.00001
NM_177550.5(SLC13A5):c.1125C>T (p.Pro375=) rs1483419923 0.00001
NM_177550.5(SLC13A5):c.1139G>A (p.Arg380His) rs747458897 0.00001
NM_177550.5(SLC13A5):c.1157-16T>G rs896810583 0.00001
NM_177550.5(SLC13A5):c.1162A>G (p.Lys388Glu) rs756710649 0.00001
NM_177550.5(SLC13A5):c.1163A>G (p.Lys388Arg) rs1423476132 0.00001
NM_177550.5(SLC13A5):c.1166C>T (p.Thr389Ile) rs748877090 0.00001
NM_177550.5(SLC13A5):c.1188G>A (p.Leu396=) rs570830621 0.00001
NM_177550.5(SLC13A5):c.1189C>T (p.Leu397=) rs140205948 0.00001
NM_177550.5(SLC13A5):c.1221C>T (p.Pro407=) rs547474199 0.00001
NM_177550.5(SLC13A5):c.1240C>T (p.Leu414=) rs1206208725 0.00001
NM_177550.5(SLC13A5):c.1272C>T (p.Ser424=) rs368030315 0.00001
NM_177550.5(SLC13A5):c.1273G>A (p.Glu425Lys) rs754804579 0.00001
NM_177550.5(SLC13A5):c.1275+7T>C rs537439213 0.00001
NM_177550.5(SLC13A5):c.1276-15C>T rs758133103 0.00001
NM_177550.5(SLC13A5):c.1276-17C>T rs1973392872 0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu) rs548065551 0.00001
NM_177550.5(SLC13A5):c.1286T>G (p.Leu429Arg) rs1231356601 0.00001
NM_177550.5(SLC13A5):c.1309A>T (p.Met437Leu) rs980479909 0.00001
NM_177550.5(SLC13A5):c.1323C>T (p.His441=) rs368369308 0.00001
NM_177550.5(SLC13A5):c.132C>T (p.Leu44=) rs1258344040 0.00001
NM_177550.5(SLC13A5):c.1336G>C (p.Ala446Pro) rs1399161589 0.00001
NM_177550.5(SLC13A5):c.1341C>T (p.Ala447=) rs780574026 0.00001
NM_177550.5(SLC13A5):c.134T>C (p.Met45Thr) rs1208101006 0.00001
NM_177550.5(SLC13A5):c.1371C>T (p.Ala457=) rs755054161 0.00001
NM_177550.5(SLC13A5):c.1396G>A (p.Val466Met) rs750791192 0.00001
NM_177550.5(SLC13A5):c.1403C>A (p.Thr468Asn) rs765658539 0.00001
NM_177550.5(SLC13A5):c.1407C>A (p.Thr469=) rs1488808458 0.00001
NM_177550.5(SLC13A5):c.1437G>A (p.Met479Ile) rs745564000 0.00001
NM_177550.5(SLC13A5):c.1438-18del rs759057646 0.00001
NM_177550.5(SLC13A5):c.1438-3C>A rs1973286161 0.00001
NM_177550.5(SLC13A5):c.1438-5C>T rs368120301 0.00001
NM_177550.5(SLC13A5):c.1454T>G (p.Leu485Arg) rs148049520 0.00001
NM_177550.5(SLC13A5):c.1460C>T (p.Pro487Leu) rs779336736 0.00001
NM_177550.5(SLC13A5):c.1508T>C (p.Met503Thr) rs765088400 0.00001
NM_177550.5(SLC13A5):c.1510T>C (p.Leu504=) rs759151984 0.00001
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu) rs936922976 0.00001
NM_177550.5(SLC13A5):c.1530A>G (p.Pro510=) rs762703163 0.00001
NM_177550.5(SLC13A5):c.1540G>A (p.Val514Met) rs201089077 0.00001
NM_177550.5(SLC13A5):c.1541T>C (p.Val514Ala) rs776701159 0.00001
NM_177550.5(SLC13A5):c.1575+12G>A rs748598074 0.00001
NM_177550.5(SLC13A5):c.1575+4A>T rs1378934738 0.00001
NM_177550.5(SLC13A5):c.1575+5C>T rs778223098 0.00001
NM_177550.5(SLC13A5):c.1591A>G (p.Ile531Val) rs753629596 0.00001
NM_177550.5(SLC13A5):c.1622T>C (p.Phe541Ser) rs1567612345 0.00001
NM_177550.5(SLC13A5):c.1629T>C (p.Ala543=) rs766561824 0.00001
NM_177550.5(SLC13A5):c.1646G>A (p.Arg549Gln) rs373799811 0.00001
NM_177550.5(SLC13A5):c.1689G>A (p.Val563=) rs1567612268 0.00001
NM_177550.5(SLC13A5):c.168G>A (p.Leu56=) rs1409050294 0.00001
NM_177550.5(SLC13A5):c.1691C>T (p.Thr564Ile) rs771551520 0.00001
NM_177550.5(SLC13A5):c.186G>A (p.Met62Ile) rs144640152 0.00001
NM_177550.5(SLC13A5):c.18C>T (p.Ser6=) rs775174636 0.00001
NM_177550.5(SLC13A5):c.202C>T (p.Pro68Ser) rs746055240 0.00001
NM_177550.5(SLC13A5):c.207C>T (p.Leu69=) rs560691044 0.00001
NM_177550.5(SLC13A5):c.208T>C (p.Phe70Leu) rs1458426377 0.00001
NM_177550.5(SLC13A5):c.221A>G (p.Asp74Gly) rs1187380199 0.00001
NM_177550.5(SLC13A5):c.231+20C>G rs766055832 0.00001
NM_177550.5(SLC13A5):c.264G>A (p.Met88Ile) rs1414544534 0.00001
NM_177550.5(SLC13A5):c.267G>C (p.Leu89=) rs776197235 0.00001
NM_177550.5(SLC13A5):c.271C>T (p.Leu91=) rs1471511272 0.00001
NM_177550.5(SLC13A5):c.279C>G (p.Gly93=) rs1253377106 0.00001
NM_177550.5(SLC13A5):c.291C>T (p.Ala97=) rs748998615 0.00001
NM_177550.5(SLC13A5):c.303G>A (p.Glu101=) rs781176593 0.00001
NM_177550.5(SLC13A5):c.304C>T (p.Arg102Cys) rs1435998726 0.00001
NM_177550.5(SLC13A5):c.313C>T (p.Leu105=) rs765334582 0.00001
NM_177550.5(SLC13A5):c.317A>G (p.His106Arg) rs762062274 0.00001
NM_177550.5(SLC13A5):c.327C>T (p.Ile109=) rs761010502 0.00001
NM_177550.5(SLC13A5):c.335G>A (p.Arg112His) rs772720272 0.00001
NM_177550.5(SLC13A5):c.339G>A (p.Thr113=) rs1461955174 0.00001
NM_177550.5(SLC13A5):c.358A>G (p.Lys120Glu) rs777351597 0.00001
NM_177550.5(SLC13A5):c.361C>A (p.Pro121Thr) rs368701407 0.00001
NM_177550.5(SLC13A5):c.367C>T (p.Arg123Trp) rs754937425 0.00001
NM_177550.5(SLC13A5):c.368+12T>C rs1973870403 0.00001
NM_177550.5(SLC13A5):c.368+15T>C rs368170908 0.00001
NM_177550.5(SLC13A5):c.369-13C>T rs1387018006 0.00001
NM_177550.5(SLC13A5):c.369-9C>A rs1301686731 0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met) rs761917087 0.00001
NM_177550.5(SLC13A5):c.435G>A (p.Thr145=) rs560631853 0.00001
NM_177550.5(SLC13A5):c.450C>T (p.Pro150=) rs763748475 0.00001
NM_177550.5(SLC13A5):c.466T>C (p.Leu156=) rs1284550674 0.00001
NM_177550.5(SLC13A5):c.48C>T (p.Ile16=) rs1162464041 0.00001
NM_177550.5(SLC13A5):c.490G>A (p.Ala164Thr) rs769026137 0.00001
NM_177550.5(SLC13A5):c.496A>G (p.Thr166Ala) rs1415995914 0.00001
NM_177550.5(SLC13A5):c.516G>A (p.Leu172=) rs1164489091 0.00001
NM_177550.5(SLC13A5):c.522C>T (p.Asp174=) rs1160099071 0.00001
NM_177550.5(SLC13A5):c.52T>C (p.Phe18Leu) rs1249830087 0.00001
NM_177550.5(SLC13A5):c.547+15A>G rs200767134 0.00001
NM_177550.5(SLC13A5):c.547+19C>T rs1417551792 0.00001
NM_177550.5(SLC13A5):c.547+6C>T rs372687638 0.00001
NM_177550.5(SLC13A5):c.548-20C>T rs746243092 0.00001
NM_177550.5(SLC13A5):c.548-2A>G rs966681982 0.00001
NM_177550.5(SLC13A5):c.555A>G (p.Gln185=) rs752221899 0.00001
NM_177550.5(SLC13A5):c.569G>A (p.Gly190Asp) rs766313348 0.00001
NM_177550.5(SLC13A5):c.576T>C (p.Thr192=) rs1274573548 0.00001
NM_177550.5(SLC13A5):c.581G>A (p.Gly194Glu) rs772459786 0.00001
NM_177550.5(SLC13A5):c.629T>C (p.Leu210Pro) rs1437917977 0.00001
NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val) rs777563695 0.00001
NM_177550.5(SLC13A5):c.645G>A (p.Ala215=) rs771306101 0.00001
NM_177550.5(SLC13A5):c.650G>A (p.Ser217Asn) rs1200030293 0.00001
NM_177550.5(SLC13A5):c.657G>A (p.Gly219=) rs2151493926 0.00001
NM_177550.5(SLC13A5):c.689A>G (p.Asn230Ser) rs760650951 0.00001
NM_177550.5(SLC13A5):c.691G>A (p.Val231Met) rs759705331 0.00001
NM_177550.5(SLC13A5):c.699C>T (p.Leu233=) rs200076864 0.00001
NM_177550.5(SLC13A5):c.69G>T (p.Leu23=) rs1280438112 0.00001
NM_177550.5(SLC13A5):c.702G>C (p.Leu234=) rs1353818031 0.00001
NM_177550.5(SLC13A5):c.712A>G (p.Asn238Asp) rs747576233 0.00001
NM_177550.5(SLC13A5):c.717-6T>C rs779832945 0.00001
NM_177550.5(SLC13A5):c.718T>C (p.Leu240=) rs867541857 0.00001
NM_177550.5(SLC13A5):c.742G>A (p.Val248Met) rs1295906896 0.00001
NM_177550.5(SLC13A5):c.807G>T (p.Trp269Cys) rs1185777681 0.00001
NM_177550.5(SLC13A5):c.831G>A (p.Met277Ile) rs1973697429 0.00001
NM_177550.5(SLC13A5):c.839+16T>C rs977131461 0.00001
NM_177550.5(SLC13A5):c.849G>A (p.Lys283=) rs141681787 0.00001
NM_177550.5(SLC13A5):c.873C>T (p.Ser291=) rs767067775 0.00001
NM_177550.5(SLC13A5):c.901G>A (p.Val301Met) rs1973547380 0.00001
NM_177550.5(SLC13A5):c.944C>T (p.Ala315Val) rs138841868 0.00001
NM_177550.5(SLC13A5):c.954C>T (p.Asn318=) rs764495638 0.00001
NM_177550.5(SLC13A5):c.955G>A (p.Val319Met) rs199612064 0.00001
NM_177550.5(SLC13A5):c.970T>C (p.Phe324Leu) rs146116408 0.00001
NM_177550.5(SLC13A5):c.991T>A (p.Phe331Ile) rs142301014 0.00001
NC_000017.10:g.(?_5289526)_(6616652_?)dup
NC_000017.10:g.(?_6328760)_(6616672_?)del
NC_000017.10:g.(?_6328780)_(7128416_?)dup
NC_000017.10:g.(?_6607177)_(6607395_?)del
NC_000017.10:g.(?_6607177)_(6610495_?)del
NC_000017.10:g.(?_6607177)_(6616652_?)dup
NC_000017.10:g.(?_6609941)_(6616652_?)del
NC_000017.10:g.(?_6616531)_(6616672_?)del
NC_000017.11:g.(?_6686187)_(6713353_?)del
NC_000017.11:g.(?_6686187)_(6713353_?)dup
NC_000017.11:g.6702964ACTC[3]
NM_177550.5(SLC13A5):c.1000G>T (p.Asp334Tyr) rs1183731879
NM_177550.5(SLC13A5):c.1002C>T (p.Asp334=) rs765942920
NM_177550.5(SLC13A5):c.1005C>A (p.Pro335=) rs56224509
NM_177550.5(SLC13A5):c.1017C>G (p.Pro339=) rs200365614
NM_177550.5(SLC13A5):c.102+11T>A rs2544660814
NM_177550.5(SLC13A5):c.102+13del rs2151505633
NM_177550.5(SLC13A5):c.102+20A>G rs2544660794
NM_177550.5(SLC13A5):c.102+9C>T rs1371878551
NM_177550.5(SLC13A5):c.102G>A (p.Lys34=) rs2151505650
NM_177550.5(SLC13A5):c.103-10G>A rs2151498872
NM_177550.5(SLC13A5):c.103-14G>A rs755556256
NM_177550.5(SLC13A5):c.103-20C>G rs754331257
NM_177550.5(SLC13A5):c.1055+10G>A rs1973541277
NM_177550.5(SLC13A5):c.1055+12A>G rs1567617699
NM_177550.5(SLC13A5):c.1055+18T>C
NM_177550.5(SLC13A5):c.1056-15C>A rs1973497120
NM_177550.5(SLC13A5):c.1056-1G>C rs113208940
NM_177550.5(SLC13A5):c.1056-4C>A rs763014412
NM_177550.5(SLC13A5):c.1056-5C>T rs1597661291
NM_177550.5(SLC13A5):c.1056-6A>G rs1597661297
NM_177550.5(SLC13A5):c.1087G>A (p.Val363Met) rs2151485566
NM_177550.5(SLC13A5):c.1093A>C (p.Thr365Pro) rs1597661181
NM_177550.5(SLC13A5):c.1096del (p.Leu366fs) rs2544620617
NM_177550.5(SLC13A5):c.1097T>C (p.Leu366Pro) rs2544620607
NM_177550.5(SLC13A5):c.1098G>A (p.Leu366=) rs1355898652
NM_177550.5(SLC13A5):c.1098G>T (p.Leu366=) rs1355898652
NM_177550.5(SLC13A5):c.10G>C (p.Ala4Pro) rs2151505878
NM_177550.5(SLC13A5):c.1101A>T (p.Leu367=)
NM_177550.5(SLC13A5):c.1113T>C (p.Pro371=)
NM_177550.5(SLC13A5):c.1117C>T (p.Gln373Ter) rs2151485506
NM_177550.5(SLC13A5):c.111G>C (p.Arg37Ser) rs2151498848
NM_177550.5(SLC13A5):c.1126A>G (p.Lys376Glu) rs1597661075
NM_177550.5(SLC13A5):c.1137C>T (p.Phe379=) rs894084232
NM_177550.5(SLC13A5):c.1139G>T (p.Arg380Leu) rs747458897
NM_177550.5(SLC13A5):c.1141del (p.Ser381fs) rs1555541486
NM_177550.5(SLC13A5):c.1150G>A (p.Glu384Lys) rs1461948332
NM_177550.5(SLC13A5):c.1152G>A (p.Glu384=)
NM_177550.5(SLC13A5):c.1156+10C>T
NM_177550.5(SLC13A5):c.1156+11T>G rs1172086493
NM_177550.5(SLC13A5):c.1156+1G>A rs1555541483
NM_177550.5(SLC13A5):c.1156+1_1156+5del rs2544620374
NM_177550.5(SLC13A5):c.1156+20C>A rs368150158
NM_177550.5(SLC13A5):c.1156+3A>G rs890208913
NM_177550.5(SLC13A5):c.1156+5G>A rs1597661022
NM_177550.5(SLC13A5):c.1157-17_1157-16insTGTGTGT
NM_177550.5(SLC13A5):c.1157-19_1157-18insTGTA rs2544618225
NM_177550.5(SLC13A5):c.1157-4C>A rs772441738
NM_177550.5(SLC13A5):c.1157-5C>T
NM_177550.5(SLC13A5):c.1157-68GT[12] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[13] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[14] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[16] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[17] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[18] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[19] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[20] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[21] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[22] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[23] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[24] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[25] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[27] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[28] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[29] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[30] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[31] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[32] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[33] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[34] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[35] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[36] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[38] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[8] rs200900896
NM_177550.5(SLC13A5):c.1157-68GT[9] rs200900896
NM_177550.5(SLC13A5):c.1178C>T (p.Pro393Leu) rs1973458109
NM_177550.5(SLC13A5):c.1181C>T (p.Pro394Leu) rs752313679
NM_177550.5(SLC13A5):c.1182T>A (p.Pro394=) rs1320803111
NM_177550.5(SLC13A5):c.1198A>C (p.Lys400Gln) rs1597659809
NM_177550.5(SLC13A5):c.1199A>T (p.Lys400Met) rs1973457144
NM_177550.5(SLC13A5):c.11C>T (p.Ala4Val) rs1356594210
NM_177550.5(SLC13A5):c.1206C>G (p.Thr402=) rs143869456
NM_177550.5(SLC13A5):c.1207_1217dup (p.Pro407fs) rs863225447
NM_177550.5(SLC13A5):c.1218G>A (p.Val406=)
NM_177550.5(SLC13A5):c.1219C>T (p.Pro407Ser) rs974605915
NM_177550.5(SLC13A5):c.1231G>A (p.Val411Met) rs1207618696
NM_177550.5(SLC13A5):c.1240C>G (p.Leu414Val) rs1206208725
NM_177550.5(SLC13A5):c.1241T>C (p.Leu414Pro) rs2544617601
NM_177550.5(SLC13A5):c.1242A>G (p.Leu414=) rs2544617590
NM_177550.5(SLC13A5):c.1248C>A (p.Gly416=) rs139042926
NM_177550.5(SLC13A5):c.1248C>G (p.Gly416=) rs139042926
NM_177550.5(SLC13A5):c.1248C>T (p.Gly416=) rs139042926
NM_177550.5(SLC13A5):c.124A>C (p.Ile42Leu) rs2151498818
NM_177550.5(SLC13A5):c.1252T>A (p.Phe418Ile) rs1567616033
NM_177550.5(SLC13A5):c.1258C>G (p.Leu420Val) rs1973453486
NM_177550.5(SLC13A5):c.1259T>C (p.Leu420Pro) rs150738356
NM_177550.5(SLC13A5):c.1275+15C>T rs2150966936
NM_177550.5(SLC13A5):c.1275+9_1275+70del rs2150966895
NM_177550.5(SLC13A5):c.1276-11G>A rs1597657068
NM_177550.5(SLC13A5):c.1276-1G>A rs1597657030
NM_177550.5(SLC13A5):c.1276-9G>T rs1237239783
NM_177550.5(SLC13A5):c.1290C>G (p.Ser430=) rs756166033
NM_177550.5(SLC13A5):c.1291G>T (p.Val431Leu) rs201036096
NM_177550.5(SLC13A5):c.1298T>C (p.Met433Thr) rs1064796654
NM_177550.5(SLC13A5):c.1300G>A (p.Gly434Arg) rs759705304
NM_177550.5(SLC13A5):c.1300G>C (p.Gly434Arg) rs759705304
NM_177550.5(SLC13A5):c.1308_1322del (p.Gln436_Leu440del) rs1197782289
NM_177550.5(SLC13A5):c.1318T>C (p.Leu440=) rs1341974633
NM_177550.5(SLC13A5):c.1333C>A (p.Pro445Thr) rs373587508
NM_177550.5(SLC13A5):c.1335G>A (p.Pro445=) rs138802643
NM_177550.5(SLC13A5):c.1335G>C (p.Pro445=) rs138802643
NM_177550.5(SLC13A5):c.1348T>C (p.Leu450=) rs1448054489
NM_177550.5(SLC13A5):c.1354_1358dup (p.Leu454fs)
NM_177550.5(SLC13A5):c.1356G>A (p.Leu452=) rs1854850819
NM_177550.5(SLC13A5):c.1357T>A (p.Ser453Thr) rs2150964801
NM_177550.5(SLC13A5):c.1362G>C (p.Leu454Phe) rs778880558
NM_177550.5(SLC13A5):c.1363C>T (p.Leu455Phe) rs1386156410
NM_177550.5(SLC13A5):c.1379C>A (p.Thr460Asn) rs2150964787
NM_177550.5(SLC13A5):c.137C>T (p.Ala46Val) rs762903735
NM_177550.5(SLC13A5):c.1383G>A (p.Glu461=) rs766564731
NM_177550.5(SLC13A5):c.1405A>G (p.Thr469Ala) rs1475919318
NM_177550.5(SLC13A5):c.1411T>G (p.Leu471Val) rs1209800037
NM_177550.5(SLC13A5):c.1412del (p.Leu471fs) rs2544612394
NM_177550.5(SLC13A5):c.1414T>C (p.Phe472Leu) rs2544612379
NM_177550.5(SLC13A5):c.1422C>T (p.Pro474=) rs2150964713
NM_177550.5(SLC13A5):c.1428T>C (p.Phe476=) rs1450058801
NM_177550.5(SLC13A5):c.1437+11T>C
NM_177550.5(SLC13A5):c.1437+15del rs1555540915
NM_177550.5(SLC13A5):c.1437+1G>T
NM_177550.5(SLC13A5):c.1437+20G>C rs1410190409
NM_177550.5(SLC13A5):c.1437+9C>T rs1216705623
NM_177550.5(SLC13A5):c.1438-19C>T rs2544606036
NM_177550.5(SLC13A5):c.1438-1G>A
NM_177550.5(SLC13A5):c.1438-2A>G rs2544605962
NM_177550.5(SLC13A5):c.1438-4G>T rs901014442
NM_177550.5(SLC13A5):c.1438T>C (p.Ser480Pro) rs2150961873
NM_177550.5(SLC13A5):c.1445C>T (p.Ser482Phe) rs1236635295
NM_177550.5(SLC13A5):c.1454T>C (p.Leu485Pro) rs148049520
NM_177550.5(SLC13A5):c.1457A>G (p.Asn486Ser) rs746077894
NM_177550.5(SLC13A5):c.1461G>T (p.Pro487=)
NM_177550.5(SLC13A5):c.1462C>A (p.Leu488Met) rs754295995
NM_177550.5(SLC13A5):c.1464G>A (p.Leu488=)
NM_177550.5(SLC13A5):c.1471A>C (p.Met491Leu) rs1973284945
NM_177550.5(SLC13A5):c.1475del (p.Leu492fs) rs766330201
NM_177550.5(SLC13A5):c.1483_1491del (p.Thr495_Ser497del) rs1255190713
NM_177550.5(SLC13A5):c.1484C>T (p.Thr495Ile) rs2544605785
NM_177550.5(SLC13A5):c.1494C>T (p.Ala498=) rs1046475172
NM_177550.5(SLC13A5):c.1497C>A (p.Ser499=) rs949451311
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177550.5(SLC13A5):c.1519G>T (p.Ala507Ser) rs751195634
NM_177550.5(SLC13A5):c.1524C>T (p.Thr508=) rs2150961768
NM_177550.5(SLC13A5):c.1536C>T (p.Ala512=) rs1973282772
NM_177550.5(SLC13A5):c.1558C>T (p.Leu520Phe) rs779246920
NM_177550.5(SLC13A5):c.1563G>A (p.Lys521=) rs1597653033
NM_177550.5(SLC13A5):c.1564G>A (p.Val522Ile) rs1221511903
NM_177550.5(SLC13A5):c.1573A>C (p.Met525Leu) rs749545913
NM_177550.5(SLC13A5):c.1575+8A>G rs1252888019
NM_177550.5(SLC13A5):c.1576-20T>A rs2150960911
NM_177550.5(SLC13A5):c.1576-4C>G rs1392358462
NM_177550.5(SLC13A5):c.1585G>A (p.Gly529Arg) rs2544603162
NM_177550.5(SLC13A5):c.1599C>A (p.Asn533Lys) rs1973250595
NM_177550.5(SLC13A5):c.15_19del (p.Ser6fs) rs2544661194
NM_177550.5(SLC13A5):c.1600A>G (p.Ile534Val) rs1973250507
NM_177550.5(SLC13A5):c.1602A>G (p.Ile534Met) rs1234607889
NM_177550.5(SLC13A5):c.1606G>A (p.Gly536Arg) rs2544603102
NM_177550.5(SLC13A5):c.1615T>C (p.Cys539Arg) rs1597651569
NM_177550.5(SLC13A5):c.1622T>G (p.Phe541Cys) rs1567612345
NM_177550.5(SLC13A5):c.1624T>C (p.Leu542=) rs2544603042
NM_177550.5(SLC13A5):c.1632C>T (p.Val544=) rs1597651519
NM_177550.5(SLC13A5):c.1643G>A (p.Gly548Glu) rs2544602963
NM_177550.5(SLC13A5):c.1674T>C (p.Pro558=)
NM_177550.5(SLC13A5):c.1687G>A (p.Val563Met) rs1973247421
NM_177550.5(SLC13A5):c.1696_1697del (p.His565_Ile566insTer) rs1311685227
NM_177550.5(SLC13A5):c.1698T>C (p.Ile566=)
NM_177550.5(SLC13A5):c.169G>T (p.Ala57Ser) rs1223073326
NM_177550.5(SLC13A5):c.1705T>C (p.Ter569Gln) rs2150960732
NM_177550.5(SLC13A5):c.1707G>A (p.Ter569=)
NM_177550.5(SLC13A5):c.171T>C (p.Ala57=) rs1379801780
NM_177550.5(SLC13A5):c.175_192del (p.Thr59_Val64del) rs1973889353
NM_177550.5(SLC13A5):c.178T>C (p.Ser60Pro) rs1973889704
NM_177550.5(SLC13A5):c.190G>A (p.Val64Ile) rs376024540
NM_177550.5(SLC13A5):c.201C>T (p.Phe67=) rs900258843
NM_177550.5(SLC13A5):c.215T>C (p.Ile72Thr) rs771281348
NM_177550.5(SLC13A5):c.21T>C (p.Tyr7=) rs745716856
NM_177550.5(SLC13A5):c.231+12C>T rs751163812
NM_177550.5(SLC13A5):c.231+20C>T
NM_177550.5(SLC13A5):c.232-14G>A rs551601158
NM_177550.5(SLC13A5):c.232-2A>G rs1973878360
NM_177550.5(SLC13A5):c.232-4C>A
NM_177550.5(SLC13A5):c.232-5T>A rs1408446451
NM_177550.5(SLC13A5):c.232-8_232-7delinsTA rs2151498313
NM_177550.5(SLC13A5):c.234G>A (p.Val78=) rs2544647195
NM_177550.5(SLC13A5):c.237T>C (p.Cys79=) rs768939788
NM_177550.5(SLC13A5):c.239T>C (p.Val80Ala) rs930818882
NM_177550.5(SLC13A5):c.248T>G (p.Met83Arg) rs1973877779
NM_177550.5(SLC13A5):c.24C>A (p.Val8=) rs2151505851
NM_177550.5(SLC13A5):c.252G>A (p.Lys84=) rs2544647094
NM_177550.5(SLC13A5):c.253G>A (p.Asp85Asn) rs2151498276
NM_177550.5(SLC13A5):c.25T>G (p.Ser9Ala) rs2151505845
NM_177550.5(SLC13A5):c.262A>C (p.Met88Leu) rs919457838
NM_177550.5(SLC13A5):c.276C>A (p.Gly92=) rs771703938
NM_177550.5(SLC13A5):c.279C>T (p.Gly93=) rs1253377106
NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr) rs1597676768
NM_177550.5(SLC13A5):c.308G>A (p.Trp103Ter) rs1597676674
NM_177550.5(SLC13A5):c.312C>A (p.Asn104Lys) rs750520927
NM_177550.5(SLC13A5):c.312C>T (p.Asn104=) rs750520927
NM_177550.5(SLC13A5):c.313C>A (p.Leu105Met) rs765334582
NM_177550.5(SLC13A5):c.318C>T (p.His106=) rs1973874419
NM_177550.5(SLC13A5):c.325A>G (p.Ile109Val) rs1973874074
NM_177550.5(SLC13A5):c.327C>G (p.Ile109Met) rs761010502
NM_177550.5(SLC13A5):c.334C>T (p.Arg112Cys) rs372771266
NM_177550.5(SLC13A5):c.356C>A (p.Ala119Asp) rs2544646557
NM_177550.5(SLC13A5):c.362C>T (p.Pro121Leu) rs1973871631
NM_177550.5(SLC13A5):c.366A>G (p.Ala122=) rs2544646485
NM_177550.5(SLC13A5):c.368+16C>G rs753134985
NM_177550.5(SLC13A5):c.368+9G>T rs764226590
NM_177550.5(SLC13A5):c.369-19C>G rs1230045010
NM_177550.5(SLC13A5):c.369-2A>G rs1973796030
NM_177550.5(SLC13A5):c.374T>G (p.Met125Arg)
NM_177550.5(SLC13A5):c.378G>C (p.Leu126=) rs986709248
NM_177550.5(SLC13A5):c.382T>C (p.Phe128Leu) rs771925824
NM_177550.5(SLC13A5):c.393C>T (p.Val131=) rs1973794870
NM_177550.5(SLC13A5):c.395_396del (p.Thr132fs)
NM_177550.5(SLC13A5):c.39C>G (p.Ser13=) rs2151505818
NM_177550.5(SLC13A5):c.3G>A (p.Met1Ile) rs1597686195
NM_177550.5(SLC13A5):c.414G>A (p.Trp138Ter) rs2544641047
NM_177550.5(SLC13A5):c.417C>T (p.Ile139=) rs1973793732
NM_177550.5(SLC13A5):c.426G>C (p.Thr142=) rs72836208
NM_177550.5(SLC13A5):c.426G>T (p.Thr142=) rs72836208
NM_177550.5(SLC13A5):c.429_437del (p.Thr144_Ala146del) rs769931974
NM_177550.5(SLC13A5):c.436G>C (p.Ala146Pro) rs1973792554
NM_177550.5(SLC13A5):c.43G>A (p.Val15Met) rs1223974189
NM_177550.5(SLC13A5):c.446T>C (p.Val149Ala) rs761377416
NM_177550.5(SLC13A5):c.451A>G (p.Ile151Val) rs1973791521
NM_177550.5(SLC13A5):c.454G>C (p.Val152Leu) rs575033281
NM_177550.5(SLC13A5):c.459G>A (p.Glu153=) rs1057521689
NM_177550.5(SLC13A5):c.485_487dup (p.Thr162dup) rs748215544
NM_177550.5(SLC13A5):c.486A>G (p.Thr162=) rs1438628302
NM_177550.5(SLC13A5):c.487A>G (p.Ser163Gly) rs1973790070
NM_177550.5(SLC13A5):c.497C>A (p.Thr166Asn) rs758852137
NM_177550.5(SLC13A5):c.499G>C (p.Glu167Gln) rs373010067
NM_177550.5(SLC13A5):c.503C>T (p.Ala168Val) rs2544640670
NM_177550.5(SLC13A5):c.517G>A (p.Val173Met) rs2151494980
NM_177550.5(SLC13A5):c.51G>C (p.Leu17Phe) rs941552722
NM_177550.5(SLC13A5):c.522C>G (p.Asp174Glu) rs1160099071
NM_177550.5(SLC13A5):c.526G>T (p.Gly176Cys) rs1973787933
NM_177550.5(SLC13A5):c.547+6C>A rs372687638
NM_177550.5(SLC13A5):c.547+9C>T rs1203815263
NM_177550.5(SLC13A5):c.548-10C>T rs2151494144
NM_177550.5(SLC13A5):c.548-11G>C rs201440162
NM_177550.5(SLC13A5):c.548-13G>C rs2544638788
NM_177550.5(SLC13A5):c.548-14T>G rs2544638791
NM_177550.5(SLC13A5):c.548-16G>A rs754384059
NM_177550.5(SLC13A5):c.548-16G>T rs754384059
NM_177550.5(SLC13A5):c.548-1G>A rs2544638751
NM_177550.5(SLC13A5):c.561T>A (p.Ile187=) rs775666858
NM_177550.5(SLC13A5):c.561T>C (p.Ile187=) rs775666858
NM_177550.5(SLC13A5):c.568G>A (p.Gly190Ser) rs1973761446
NM_177550.5(SLC13A5):c.570C>A (p.Gly190=) rs1973760996
NM_177550.5(SLC13A5):c.570C>T (p.Gly190=) rs1973760996
NM_177550.5(SLC13A5):c.582G>C (p.Gly194=) rs147260918
NM_177550.5(SLC13A5):c.601C>A (p.Arg201=) rs142320179
NM_177550.5(SLC13A5):c.601C>T (p.Arg201Trp) rs142320179
NM_177550.5(SLC13A5):c.608G>A (p.Arg203Lys) rs949110880
NM_177550.5(SLC13A5):c.609G>A (p.Arg203=) rs2151494038
NM_177550.5(SLC13A5):c.60C>G (p.Thr20=) rs141481217
NM_177550.5(SLC13A5):c.618_626dup (p.Ala207_Thr209dup) rs1490001751
NM_177550.5(SLC13A5):c.61C>G (p.Pro21Ala) rs1567628652
NM_177550.5(SLC13A5):c.623T>C (p.Met208Thr) rs1973759255
NM_177550.5(SLC13A5):c.627C>A (p.Thr209=) rs1259516551
NM_177550.5(SLC13A5):c.627C>T (p.Thr209=) rs1259516551
NM_177550.5(SLC13A5):c.643G>A (p.Ala215Thr) rs1271011718
NM_177550.5(SLC13A5):c.646del (p.Ala216fs) rs2544638357
NM_177550.5(SLC13A5):c.648C>T (p.Ala216=) rs2544638336
NM_177550.5(SLC13A5):c.664G>A (p.Ala222Thr) rs201674669
NM_177550.5(SLC13A5):c.666C>T (p.Ala222=) rs1973756878
NM_177550.5(SLC13A5):c.669C>A (p.Thr223=) rs1425515226
NM_177550.5(SLC13A5):c.669C>T (p.Thr223=) rs1425515226
NM_177550.5(SLC13A5):c.66C>T (p.Leu22=) rs1974089281
NM_177550.5(SLC13A5):c.714C>A (p.Asn238Lys) rs754553205
NM_177550.5(SLC13A5):c.715G>A (p.Glu239Lys) rs1338244280
NM_177550.5(SLC13A5):c.716+11G>A
NM_177550.5(SLC13A5):c.716+11G>T
NM_177550.5(SLC13A5):c.716+11_716+21del rs554361040
NM_177550.5(SLC13A5):c.716+14C>A
NM_177550.5(SLC13A5):c.716+14C>T rs778685847
NM_177550.5(SLC13A5):c.716+15G>T rs377090828
NM_177550.5(SLC13A5):c.716+18C>A
NM_177550.5(SLC13A5):c.716+19C>T rs1973753277
NM_177550.5(SLC13A5):c.716+8C>T rs746595823
NM_177550.5(SLC13A5):c.716A>G (p.Glu239Gly) rs1973754222
NM_177550.5(SLC13A5):c.717-18G>T rs1040248435
NM_177550.5(SLC13A5):c.717-20G>A rs777013140
NM_177550.5(SLC13A5):c.717-4G>A
NM_177550.5(SLC13A5):c.717G>A (p.Glu239=) rs2544634549
NM_177550.5(SLC13A5):c.723T>G (p.Phe241Leu) rs771892236
NM_177550.5(SLC13A5):c.72G>A (p.Leu24=) rs2544660949
NM_177550.5(SLC13A5):c.737A>G (p.Asp246Gly) rs778721131
NM_177550.5(SLC13A5):c.748T>C (p.Phe250Leu) rs2151492071
NM_177550.5(SLC13A5):c.750T>C (p.Phe250=) rs2151492066
NM_177550.5(SLC13A5):c.758G>A (p.Trp253Ter) rs1973699766
NM_177550.5(SLC13A5):c.761T>G (p.Phe254Cys) rs763190407
NM_177550.5(SLC13A5):c.780C>T (p.Asn260=)
NM_177550.5(SLC13A5):c.781A>G (p.Met261Val) rs2544634391
NM_177550.5(SLC13A5):c.793C>T (p.Leu265=) rs2544634363
NM_177550.5(SLC13A5):c.806G>A (p.Trp269Ter)
NM_177550.5(SLC13A5):c.812G>A (p.Trp271Ter) rs2544634307
NM_177550.5(SLC13A5):c.822T>C (p.Phe274=) rs1973697965
NM_177550.5(SLC13A5):c.839+18A>G
NM_177550.5(SLC13A5):c.839+1G>A rs1973697345
NM_177550.5(SLC13A5):c.839+4A>C rs1973697168
NM_177550.5(SLC13A5):c.839+7T>G rs991712370
NM_177550.5(SLC13A5):c.839+8T>C rs775100779
NM_177550.5(SLC13A5):c.840-2A>G rs2544624572
NM_177550.5(SLC13A5):c.840-9A>G
NM_177550.5(SLC13A5):c.858C>T (p.Gly286=) rs754297638
NM_177550.5(SLC13A5):c.85_101delinsT (p.Ile29fs) rs2544660833
NM_177550.5(SLC13A5):c.872G>A (p.Ser291Asn) rs2544624426
NM_177550.5(SLC13A5):c.882C>A (p.Asn294Lys) rs143504660
NM_177550.5(SLC13A5):c.883G>A (p.Glu295Lys) rs749077002
NM_177550.5(SLC13A5):c.889G>A (p.Ala297Thr) rs1057524830
NM_177550.5(SLC13A5):c.894C>T (p.Ala298=)
NM_177550.5(SLC13A5):c.89T>C (p.Leu30Pro) rs1974087582
NM_177550.5(SLC13A5):c.8C>G (p.Ser3Trp) rs2544661247
NM_177550.5(SLC13A5):c.903G>A (p.Val301=) rs1973547281
NM_177550.5(SLC13A5):c.90G>A (p.Leu30=) rs758719176
NM_177550.5(SLC13A5):c.919C>G (p.Arg307Gly) rs769595777
NM_177550.5(SLC13A5):c.919C>T (p.Arg307Trp) rs769595777
NM_177550.5(SLC13A5):c.930del (p.Leu312fs) rs1973546077
NM_177550.5(SLC13A5):c.944C>A (p.Ala315Glu) rs138841868
NM_177550.5(SLC13A5):c.949A>T (p.Ile317Phe) rs1315824408
NM_177550.5(SLC13A5):c.951C>A (p.Ile317=)
NM_177550.5(SLC13A5):c.981C>T (p.Val327=) rs2151487186
NM_177550.5(SLC13A5):c.987G>A (p.Leu329=) rs1597663120
NM_177550.5(SLC13A5):c.98C>A (p.Ala33Asp) rs1296132660
NM_177550.5(SLC13A5):c.9G>A (p.Ser3=) rs1318559097

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