|
NM_177550.5(SLC13A5):c.1092C>T (p.Ala364=)
|
rs55698160
|
0.09334
|
|
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
|
0.02122
|
|
NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=)
|
rs61520357
|
0.00918
|
|
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=)
|
rs72836208
|
0.00250
|
|
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
|
0.00049
|
|
NM_177550.5(SLC13A5):c.690C>T (p.Asn230=)
|
rs146385318
|
0.00041
|
|
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.1230C>T (p.Ile410=)
|
rs149447388
|
0.00035
|
|
NM_177550.5(SLC13A5):c.801C>T (p.Phe267=)
|
rs200645836
|
0.00032
|
|
NM_177550.5(SLC13A5):c.1095C>G (p.Thr365=)
|
rs139660928
|
0.00029
|
|
NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile)
|
rs146047560
|
0.00026
|
|
NM_177550.5(SLC13A5):c.232-7G>A
|
rs376066820
|
0.00025
|
|
NM_177550.5(SLC13A5):c.642C>T (p.Tyr214=)
|
rs148755614
|
0.00018
|
|
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met)
|
rs372801738
|
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.1276-19C>A
|
rs200223186
|
0.00015
|
|
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.4G>A (p.Ala2Thr)
|
rs146396085
|
0.00013
|
|
NM_177550.5(SLC13A5):c.681G>A (p.Thr227=)
|
rs139698810
|
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.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.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
|
NM_177550.5(SLC13A5):c.1365C>T (p.Leu455=)
|
rs572994797
|
0.00008
|
|
NM_177550.5(SLC13A5):c.862G>A (p.Gly288Arg)
|
rs761215437
|
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.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.547+8C>T
|
rs1270343571
|
0.00006
|
|
NM_177550.5(SLC13A5):c.548-17C>T
|
rs761273591
|
0.00006
|
|
NM_177550.5(SLC13A5):c.663C>T (p.Thr221=)
|
rs373831482
|
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.1006G>A (p.Gly336Ser)
|
rs1187250417
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1156+20C>T
|
rs368150158
|
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.18C>T (p.Ser6=)
|
rs775174636
|
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.338C>T (p.Thr113Met)
|
rs759069275
|
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.864G>A (p.Gly288=)
|
rs910523768
|
0.00004
|
|
NM_177550.5(SLC13A5):c.920G>A (p.Arg307Gln)
|
rs377021126
|
0.00004
|
|
NM_177550.5(SLC13A5):c.945G>A (p.Ala315=)
|
rs1057522909
|
0.00004
|
|
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)
|
rs773770609
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1062C>T (p.Val354=)
|
rs908065981
|
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.1334C>T (p.Pro445Leu)
|
rs558866003
|
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.207C>T (p.Leu69=)
|
rs560691044
|
0.00003
|
|
NM_177550.5(SLC13A5):c.368+9G>A
|
rs764226590
|
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.877A>G (p.Lys293Glu)
|
rs759034052
|
0.00003
|
|
NM_177550.5(SLC13A5):c.906G>T (p.Leu302=)
|
rs1334051824
|
0.00003
|
|
NM_177550.5(SLC13A5):c.998G>A (p.Arg333Gln)
|
rs1379095103
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1037G>T (p.Trp346Leu)
|
rs746999375
|
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.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+7T>C
|
rs537439213
|
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.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.1591A>G (p.Ile531Val)
|
rs753629596
|
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.227G>A (p.Arg76Lys)
|
rs778196660
|
0.00002
|
|
NM_177550.5(SLC13A5):c.232-15C>T
|
rs199904860
|
0.00002
|
|
NM_177550.5(SLC13A5):c.313C>T (p.Leu105=)
|
rs765334582
|
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.446T>C (p.Val149Ala)
|
rs761377416
|
0.00002
|
|
NM_177550.5(SLC13A5):c.471G>A (p.Gln157=)
|
rs367895721
|
0.00002
|
|
NM_177550.5(SLC13A5):c.497C>A (p.Thr166Asn)
|
rs758852137
|
0.00002
|
|
NM_177550.5(SLC13A5):c.675C>T (p.Thr225=)
|
rs766223341
|
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.1002C>A (p.Asp334Glu)
|
rs765942920
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1017C>T (p.Pro339=)
|
rs200365614
|
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.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.1106T>C (p.Ile369Thr)
|
rs773383980
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1125C>T (p.Pro375=)
|
rs1483419923
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1156+15C>G
|
rs367721453
|
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.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.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.1318T>C (p.Leu440=)
|
rs1341974633
|
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.134T>C (p.Met45Thr)
|
rs1208101006
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1396G>A (p.Val466Met)
|
rs750791192
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1407C>A (p.Thr469=)
|
rs1488808458
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1438-18del
|
rs759057646
|
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.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+10C>A
|
rs576242281
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1575+12G>A
|
rs748598074
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1575+5C>T
|
rs778223098
|
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.1691C>T (p.Thr564Ile)
|
rs771551520
|
0.00001
|
|
NM_177550.5(SLC13A5):c.186G>A (p.Met62Ile)
|
rs144640152
|
0.00001
|
|
NM_177550.5(SLC13A5):c.202C>T (p.Pro68Ser)
|
rs746055240
|
0.00001
|
|
NM_177550.5(SLC13A5):c.208T>C (p.Phe70Leu)
|
rs1458426377
|
0.00001
|
|
NM_177550.5(SLC13A5):c.264G>A (p.Met88Ile)
|
rs1414544534
|
0.00001
|
|
NM_177550.5(SLC13A5):c.276C>T (p.Gly92=)
|
rs771703938
|
0.00001
|
|
NM_177550.5(SLC13A5):c.279C>G (p.Gly93=)
|
rs1253377106
|
0.00001
|
|
NM_177550.5(SLC13A5):c.292G>A (p.Val98Met)
|
rs529524270
|
0.00001
|
|
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His)
|
rs764688100
|
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.358A>G (p.Lys120Glu)
|
rs777351597
|
0.00001
|
|
NM_177550.5(SLC13A5):c.361C>A (p.Pro121Thr)
|
rs368701407
|
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.453C>T (p.Ile151=)
|
rs144523287
|
0.00001
|
|
NM_177550.5(SLC13A5):c.466T>C (p.Leu156=)
|
rs1284550674
|
0.00001
|
|
NM_177550.5(SLC13A5):c.468G>T (p.Leu156Phe)
|
rs774491349
|
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.502G>A (p.Ala168Thr)
|
rs1555542943
|
0.00001
|
|
NM_177550.5(SLC13A5):c.516G>A (p.Leu172=)
|
rs1164489091
|
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+6C>T
|
rs372687638
|
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.618_626dup (p.Ala207_Thr209dup)
|
rs1490001751
|
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.674C>T (p.Thr225Ile)
|
rs182042247
|
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.717-16C>T
|
rs558529852
|
0.00001
|
|
NM_177550.5(SLC13A5):c.717-6T>C
|
rs779832945
|
0.00001
|
|
NM_177550.5(SLC13A5):c.742G>A (p.Val248Met)
|
rs1295906896
|
0.00001
|
|
NM_177550.5(SLC13A5):c.861C>T (p.Cys287=)
|
rs148018915
|
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.942C>T (p.Phe314=)
|
rs546617630
|
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
|
|
GRCh38/hg38 17p13.1(chr17:6690682-6696039)x0
|
|
|
|
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.-5G>A
|
rs201070767
|
|
|
NM_177550.5(SLC13A5):c.-5G>C
|
rs201070767
|
|
|
NM_177550.5(SLC13A5):c.1000G>T (p.Asp334Tyr)
|
rs1183731879
|
|
|
NM_177550.5(SLC13A5):c.1005C>A (p.Pro335=)
|
rs56224509
|
|
|
NM_177550.5(SLC13A5):c.1015C>A (p.Pro339Thr)
|
|
|
|
NM_177550.5(SLC13A5):c.1017C>G (p.Pro339=)
|
rs200365614
|
|
|
NM_177550.5(SLC13A5):c.102+11T>A
|
|
|
|
NM_177550.5(SLC13A5):c.102+13del
|
rs2151505633
|
|
|
NM_177550.5(SLC13A5):c.102+19C>A
|
|
|
|
NM_177550.5(SLC13A5):c.102+20A>G
|
|
|
|
NM_177550.5(SLC13A5):c.102+9C>T
|
|
|
|
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
|
|
|
|
NM_177550.5(SLC13A5):c.103-1G>A
|
rs1597677742
|
|
|
NM_177550.5(SLC13A5):c.103-20C>G
|
|
|
|
NM_177550.5(SLC13A5):c.1052C>A (p.Thr351Lys)
|
|
|
|
NM_177550.5(SLC13A5):c.1053A>G (p.Thr351=)
|
|
|
|
NM_177550.5(SLC13A5):c.1055+10G>A
|
|
|
|
NM_177550.5(SLC13A5):c.1055+12A>G
|
rs1567617699
|
|
|
NM_177550.5(SLC13A5):c.1055+14T>G
|
|
|
|
NM_177550.5(SLC13A5):c.1056-15C>A
|
|
|
|
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.1071C>T (p.Ala357=)
|
|
|
|
NM_177550.5(SLC13A5):c.1087G>A (p.Val363Met)
|
rs2151485566
|
|
|
NM_177550.5(SLC13A5):c.1093A>C (p.Thr365Pro)
|
|
|
|
NM_177550.5(SLC13A5):c.1094C>T (p.Thr365Ile)
|
rs760586654
|
|
|
NM_177550.5(SLC13A5):c.1096del (p.Leu366fs)
|
|
|
|
NM_177550.5(SLC13A5):c.1097T>C (p.Leu366Pro)
|
|
|
|
NM_177550.5(SLC13A5):c.1098G>A (p.Leu366=)
|
|
|
|
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.1117C>T (p.Gln373Ter)
|
rs2151485506
|
|
|
NM_177550.5(SLC13A5):c.111G>C (p.Arg37Ser)
|
rs2151498848
|
|
|
NM_177550.5(SLC13A5):c.1126A>G (p.Lys376Glu)
|
|
|
|
NM_177550.5(SLC13A5):c.1137C>T (p.Phe379=)
|
|
|
|
NM_177550.5(SLC13A5):c.1139G>A (p.Arg380His)
|
rs747458897
|
|
|
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.1156+11T>G
|
rs1172086493
|
|
|
NM_177550.5(SLC13A5):c.1156+1G>A
|
rs1555541483
|
|
|
NM_177550.5(SLC13A5):c.1156+1_1156+5del
|
|
|
|
NM_177550.5(SLC13A5):c.1156+20C>A
|
rs368150158
|
|
|
NM_177550.5(SLC13A5):c.1156+3A>G
|
|
|
|
NM_177550.5(SLC13A5):c.1156+5G>A
|
|
|
|
NM_177550.5(SLC13A5):c.1156+7C>A
|
|
|
|
NM_177550.5(SLC13A5):c.1157-16T>G
|
|
|
|
NM_177550.5(SLC13A5):c.1157-19_1157-18insTGTA
|
|
|
|
NM_177550.5(SLC13A5):c.1157-4C>A
|
rs772441738
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[12]
|
|
|
|
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]
|
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[8]
|
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[9]
|
|
|
|
NM_177550.5(SLC13A5):c.1159A>G (p.Arg387Gly)
|
|
|
|
NM_177550.5(SLC13A5):c.1162A>G (p.Lys388Glu)
|
rs756710649
|
|
|
NM_177550.5(SLC13A5):c.1178C>T (p.Pro393Leu)
|
rs1973458109
|
|
|
NM_177550.5(SLC13A5):c.1181C>T (p.Pro394Leu)
|
|
|
|
NM_177550.5(SLC13A5):c.1182T>A (p.Pro394=)
|
|
|
|
NM_177550.5(SLC13A5):c.1189C>T (p.Leu397=)
|
|
|
|
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=)
|
|
|
|
NM_177550.5(SLC13A5):c.1207_1217dup (p.Pro407fs)
|
rs863225447
|
|
|
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)
|
|
|
|
NM_177550.5(SLC13A5):c.1242A>G (p.Leu414=)
|
|
|
|
NM_177550.5(SLC13A5):c.1247del (p.Gly416fs)
|
|
|
|
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)
|
|
|
|
NM_177550.5(SLC13A5):c.1258C>G (p.Leu420Val)
|
|
|
|
NM_177550.5(SLC13A5):c.1259T>C (p.Leu420Pro)
|
rs150738356
|
|
|
NM_177550.5(SLC13A5):c.1273G>A (p.Glu425Lys)
|
rs754804579
|
|
|
NM_177550.5(SLC13A5):c.1275+15C>T
|
rs2150966936
|
|
|
NM_177550.5(SLC13A5):c.1275+9T>A
|
|
|
|
NM_177550.5(SLC13A5):c.1275+9_1275+70del
|
rs2150966895
|
|
|
NM_177550.5(SLC13A5):c.1276-11G>A
|
rs1597657068
|
|
|
NM_177550.5(SLC13A5):c.1276-15C>T
|
|
|
|
NM_177550.5(SLC13A5):c.1276-1G>A
|
rs1597657030
|
|
|
NM_177550.5(SLC13A5):c.1276-9G>T
|
|
|
|
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.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.1341C>T (p.Ala447=)
|
|
|
|
NM_177550.5(SLC13A5):c.1348T>C (p.Leu450=)
|
|
|
|
NM_177550.5(SLC13A5):c.1349T>C (p.Leu450Ser)
|
|
|
|
NM_177550.5(SLC13A5):c.1356G>A (p.Leu452=)
|
|
|
|
NM_177550.5(SLC13A5):c.1357T>A (p.Ser453Thr)
|
rs2150964801
|
|
|
NM_177550.5(SLC13A5):c.135G>A (p.Met45Ile)
|
rs1311732049
|
|
|
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.1371C>T (p.Ala457=)
|
|
|
|
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=)
|
|
|
|
NM_177550.5(SLC13A5):c.1403C>A (p.Thr468Asn)
|
|
|
|
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)
|
|
|
|
NM_177550.5(SLC13A5):c.1414T>C (p.Phe472Leu)
|
|
|
|
NM_177550.5(SLC13A5):c.1422C>T (p.Pro474=)
|
rs2150964713
|
|
|
NM_177550.5(SLC13A5):c.1423A>G (p.Ile475Val)
|
|
|
|
NM_177550.5(SLC13A5):c.1428T>C (p.Phe476=)
|
rs1450058801
|
|
|
NM_177550.5(SLC13A5):c.1437+15del
|
rs1555540915
|
|
|
NM_177550.5(SLC13A5):c.1437+20G>A
|
|
|
|
NM_177550.5(SLC13A5):c.1437+20G>C
|
|
|
|
NM_177550.5(SLC13A5):c.1437+9C>T
|
rs1216705623
|
|
|
NM_177550.5(SLC13A5):c.1437G>A (p.Met479Ile)
|
|
|
|
NM_177550.5(SLC13A5):c.1438-19C>T
|
|
|
|
NM_177550.5(SLC13A5):c.1438-2A>G
|
|
|
|
NM_177550.5(SLC13A5):c.1438-3C>A
|
|
|
|
NM_177550.5(SLC13A5):c.1438-4G>T
|
|
|
|
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)
|
|
|
|
NM_177550.5(SLC13A5):c.1462C>A (p.Leu488Met)
|
rs754295995
|
|
|
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro)
|
rs587777578
|
|
|
NM_177550.5(SLC13A5):c.1471A>C (p.Met491Leu)
|
|
|
|
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro)
|
rs1057519449
|
|
|
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)
|
|
|
|
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.1510T>C (p.Leu504=)
|
rs759151984
|
|
|
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs)
|
rs1211773372
|
|
|
NM_177550.5(SLC13A5):c.1519G>T (p.Ala507Ser)
|
|
|
|
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.1570G>C (p.Asp524His)
|
rs863225448
|
|
|
NM_177550.5(SLC13A5):c.1573A>C (p.Met525Leu)
|
|
|
|
NM_177550.5(SLC13A5):c.1575+4A>T
|
|
|
|
NM_177550.5(SLC13A5):c.1575+8A>G
|
|
|
|
NM_177550.5(SLC13A5):c.1576-20T>A
|
rs2150960911
|
|
|
NM_177550.5(SLC13A5):c.1576-4C>G
|
|
|
|
NM_177550.5(SLC13A5):c.1585G>A (p.Gly529Arg)
|
|
|
|
NM_177550.5(SLC13A5):c.1599C>A (p.Asn533Lys)
|
rs1973250595
|
|
|
NM_177550.5(SLC13A5):c.15_19del (p.Ser6fs)
|
|
|
|
NM_177550.5(SLC13A5):c.1600A>G (p.Ile534Val)
|
rs1973250507
|
|
|
NM_177550.5(SLC13A5):c.1602A>G (p.Ile534Met)
|
|
|
|
NM_177550.5(SLC13A5):c.1606G>A (p.Gly536Arg)
|
|
|
|
NM_177550.5(SLC13A5):c.1615T>C (p.Cys539Arg)
|
rs1597651569
|
|
|
NM_177550.5(SLC13A5):c.1622T>C (p.Phe541Ser)
|
|
|
|
NM_177550.5(SLC13A5):c.1622T>G (p.Phe541Cys)
|
|
|
|
NM_177550.5(SLC13A5):c.1624T>C (p.Leu542=)
|
|
|
|
NM_177550.5(SLC13A5):c.1632C>T (p.Val544=)
|
rs1597651519
|
|
|
NM_177550.5(SLC13A5):c.1643G>A (p.Gly548Glu)
|
|
|
|
NM_177550.5(SLC13A5):c.1654T>A (p.Phe552Ile)
|
rs1453393447
|
|
|
NM_177550.5(SLC13A5):c.1687G>A (p.Val563Met)
|
rs1973247421
|
|
|
NM_177550.5(SLC13A5):c.168G>A (p.Leu56=)
|
|
|
|
NM_177550.5(SLC13A5):c.1696_1697del (p.His565_Ile566insTer)
|
rs1311685227
|
|
|
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.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.20A>G (p.Tyr7Cys)
|
rs568118247
|
|
|
NM_177550.5(SLC13A5):c.215T>C (p.Ile72Thr)
|
|
|
|
NM_177550.5(SLC13A5):c.21T>C (p.Tyr7=)
|
|
|
|
NM_177550.5(SLC13A5):c.221A>G (p.Asp74Gly)
|
|
|
|
NM_177550.5(SLC13A5):c.231+12C>T
|
|
|
|
NM_177550.5(SLC13A5):c.231+20C>G
|
|
|
|
NM_177550.5(SLC13A5):c.232-14G>A
|
rs551601158
|
|
|
NM_177550.5(SLC13A5):c.232-2A>G
|
rs1973878360
|
|
|
NM_177550.5(SLC13A5):c.232-5T>A
|
|
|
|
NM_177550.5(SLC13A5):c.232-8_232-7delinsTA
|
rs2151498313
|
|
|
NM_177550.5(SLC13A5):c.234G>A (p.Val78=)
|
|
|
|
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.245A>G (p.Tyr82Cys)
|
rs747526311
|
|
|
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=)
|
|
|
|
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.267G>C (p.Leu89=)
|
|
|
|
NM_177550.5(SLC13A5):c.271C>T (p.Leu91=)
|
|
|
|
NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro)
|
rs1555543400
|
|
|
NM_177550.5(SLC13A5):c.276C>A (p.Gly92=)
|
rs771703938
|
|
|
NM_177550.5(SLC13A5):c.279C>T (p.Gly93=)
|
|
|
|
NM_177550.5(SLC13A5):c.285CGTGGC[3] (p.97AV[3])
|
rs1555543390
|
|
|
NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr)
|
rs1597676768
|
|
|
NM_177550.5(SLC13A5):c.291C>T (p.Ala97=)
|
|
|
|
NM_177550.5(SLC13A5):c.303G>A (p.Glu101=)
|
|
|
|
NM_177550.5(SLC13A5):c.304C>T (p.Arg102Cys)
|
rs1435998726
|
|
|
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=)
|
|
|
|
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.339G>A (p.Thr113=)
|
|
|
|
NM_177550.5(SLC13A5):c.356C>A (p.Ala119Asp)
|
|
|
|
NM_177550.5(SLC13A5):c.362C>T (p.Pro121Leu)
|
rs1973871631
|
|
|
NM_177550.5(SLC13A5):c.366A>G (p.Ala122=)
|
|
|
|
NM_177550.5(SLC13A5):c.367C>T (p.Arg123Trp)
|
rs754937425
|
|
|
NM_177550.5(SLC13A5):c.368+12T>C
|
|
|
|
NM_177550.5(SLC13A5):c.368+15T>C
|
|
|
|
NM_177550.5(SLC13A5):c.368+16C>G
|
|
|
|
NM_177550.5(SLC13A5):c.368+1G>A
|
|
|
|
NM_177550.5(SLC13A5):c.368+9G>T
|
|
|
|
NM_177550.5(SLC13A5):c.369-19C>G
|
|
|
|
NM_177550.5(SLC13A5):c.369-2A>G
|
rs1973796030
|
|
|
NM_177550.5(SLC13A5):c.378G>C (p.Leu126=)
|
|
|
|
NM_177550.5(SLC13A5):c.382T>C (p.Phe128Leu)
|
rs771925824
|
|
|
NM_177550.5(SLC13A5):c.393C>T (p.Val131=)
|
|
|
|
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.40T>C (p.Phe14Leu)
|
rs1974091514
|
|
|
NM_177550.5(SLC13A5):c.414G>A (p.Trp138Ter)
|
|
|
|
NM_177550.5(SLC13A5):c.417C>T (p.Ile139=)
|
|
|
|
NM_177550.5(SLC13A5):c.425del (p.Thr142fs)
|
rs2151495220
|
|
|
NM_177550.5(SLC13A5):c.426G>C (p.Thr142=)
|
|
|
|
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.434C>A (p.Thr145Lys)
|
rs1202091819
|
|
|
NM_177550.5(SLC13A5):c.435G>A (p.Thr145=)
|
|
|
|
NM_177550.5(SLC13A5):c.436G>C (p.Ala146Pro)
|
|
|
|
NM_177550.5(SLC13A5):c.43G>A (p.Val15Met)
|
rs1223974189
|
|
|
NM_177550.5(SLC13A5):c.450C>T (p.Pro150=)
|
|
|
|
NM_177550.5(SLC13A5):c.451A>G (p.Ile151Val)
|
|
|
|
NM_177550.5(SLC13A5):c.454G>A (p.Val152Met)
|
|
|
|
NM_177550.5(SLC13A5):c.454G>C (p.Val152Leu)
|
|
|
|
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.48C>T (p.Ile16=)
|
|
|
|
NM_177550.5(SLC13A5):c.499G>C (p.Glu167Gln)
|
rs373010067
|
|
|
NM_177550.5(SLC13A5):c.503C>T (p.Ala168Val)
|
|
|
|
NM_177550.5(SLC13A5):c.512A>G (p.Glu171Gly)
|
rs1412352155
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NM_177550.5(SLC13A5):c.517G>A (p.Val173Met)
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rs2151494980
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NM_177550.5(SLC13A5):c.51G>C (p.Leu17Phe)
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rs941552722
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NM_177550.5(SLC13A5):c.522C>G (p.Asp174Glu)
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rs1160099071
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NM_177550.5(SLC13A5):c.522C>T (p.Asp174=)
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NM_177550.5(SLC13A5):c.526G>T (p.Gly176Cys)
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rs1973787933
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NM_177550.5(SLC13A5):c.547+19C>T
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NM_177550.5(SLC13A5):c.547+6C>A
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NM_177550.5(SLC13A5):c.547+9C>T
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rs1203815263
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NM_177550.5(SLC13A5):c.548-10C>T
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rs2151494144
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NM_177550.5(SLC13A5):c.548-11G>C
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NM_177550.5(SLC13A5):c.548-13G>C
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NM_177550.5(SLC13A5):c.548-14T>G
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NM_177550.5(SLC13A5):c.548-16G>A
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NM_177550.5(SLC13A5):c.548-16G>T
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NM_177550.5(SLC13A5):c.548-1G>A
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NM_177550.5(SLC13A5):c.548-20C>T
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NM_177550.5(SLC13A5):c.561T>A (p.Ile187=)
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NM_177550.5(SLC13A5):c.561T>C (p.Ile187=)
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NM_177550.5(SLC13A5):c.568G>A (p.Gly190Ser)
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rs1973761446
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NM_177550.5(SLC13A5):c.570C>A (p.Gly190=)
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NM_177550.5(SLC13A5):c.570C>T (p.Gly190=)
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NM_177550.5(SLC13A5):c.582G>C (p.Gly194=)
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rs147260918
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NM_177550.5(SLC13A5):c.601C>A (p.Arg201=)
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NM_177550.5(SLC13A5):c.601C>T (p.Arg201Trp)
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rs142320179
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NM_177550.5(SLC13A5):c.608G>A (p.Arg203Lys)
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NM_177550.5(SLC13A5):c.609G>A (p.Arg203=)
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rs2151494038
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NM_177550.5(SLC13A5):c.60C>G (p.Thr20=)
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NM_177550.5(SLC13A5):c.61C>G (p.Pro21Ala)
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rs1567628652
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NM_177550.5(SLC13A5):c.623T>C (p.Met208Thr)
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rs1973759255
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NM_177550.5(SLC13A5):c.627C>A (p.Thr209=)
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rs1259516551
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NM_177550.5(SLC13A5):c.627C>T (p.Thr209=)
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NM_177550.5(SLC13A5):c.629T>C (p.Leu210Pro)
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NM_177550.5(SLC13A5):c.643G>A (p.Ala215Thr)
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rs1271011718
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NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val)
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rs777563695
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NM_177550.5(SLC13A5):c.646del (p.Ala216fs)
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NM_177550.5(SLC13A5):c.648C>T (p.Ala216=)
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NM_177550.5(SLC13A5):c.657G>A (p.Gly219=)
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NM_177550.5(SLC13A5):c.659G>A (p.Gly220Asp)
|
rs2151493922
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NM_177550.5(SLC13A5):c.664G>A (p.Ala222Thr)
|
rs201674669
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NM_177550.5(SLC13A5):c.666C>T (p.Ala222=)
|
rs1973756878
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NM_177550.5(SLC13A5):c.669C>A (p.Thr223=)
|
rs1425515226
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NM_177550.5(SLC13A5):c.669C>T (p.Thr223=)
|
rs1425515226
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NM_177550.5(SLC13A5):c.66C>T (p.Leu22=)
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NM_177550.5(SLC13A5):c.705C>T (p.Gly235=)
|
rs1375520259
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NM_177550.5(SLC13A5):c.714C>A (p.Asn238Lys)
|
rs754553205
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NM_177550.5(SLC13A5):c.715G>A (p.Glu239Lys)
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NM_177550.5(SLC13A5):c.716+11_716+21del
|
rs554361040
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NM_177550.5(SLC13A5):c.716+14C>T
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NM_177550.5(SLC13A5):c.716+15G>T
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NM_177550.5(SLC13A5):c.716+19C>T
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NM_177550.5(SLC13A5):c.716+5G>A
|
rs1057518298
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NM_177550.5(SLC13A5):c.716+8C>T
|
rs746595823
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NM_177550.5(SLC13A5):c.716A>G (p.Glu239Gly)
|
rs1973754222
|
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NM_177550.5(SLC13A5):c.717-18G>T
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NM_177550.5(SLC13A5):c.717-20G>A
|
rs777013140
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NM_177550.5(SLC13A5):c.717G>A (p.Glu239=)
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NM_177550.5(SLC13A5):c.718T>C (p.Leu240=)
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NM_177550.5(SLC13A5):c.723T>G (p.Phe241Leu)
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NM_177550.5(SLC13A5):c.72G>A (p.Leu24=)
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NM_177550.5(SLC13A5):c.737A>G (p.Asp246Gly)
|
rs778721131
|
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NM_177550.5(SLC13A5):c.748T>C (p.Phe250Leu)
|
rs2151492071
|
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NM_177550.5(SLC13A5):c.750T>C (p.Phe250=)
|
rs2151492066
|
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NM_177550.5(SLC13A5):c.758G>A (p.Trp253Ter)
|
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NM_177550.5(SLC13A5):c.761T>G (p.Phe254Cys)
|
rs763190407
|
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NM_177550.5(SLC13A5):c.781A>G (p.Met261Val)
|
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NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro)
|
rs1973699059
|
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NM_177550.5(SLC13A5):c.793C>T (p.Leu265=)
|
|
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NM_177550.5(SLC13A5):c.807G>T (p.Trp269Cys)
|
|
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NM_177550.5(SLC13A5):c.812G>A (p.Trp271Ter)
|
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NM_177550.5(SLC13A5):c.816C>T (p.Leu272=)
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NM_177550.5(SLC13A5):c.822T>C (p.Phe274=)
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NM_177550.5(SLC13A5):c.831G>A (p.Met277Ile)
|
rs1973697429
|
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NM_177550.5(SLC13A5):c.839+16T>C
|
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NM_177550.5(SLC13A5):c.839+1G>A
|
rs1973697345
|
|
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NM_177550.5(SLC13A5):c.839+4A>C
|
rs1973697168
|
|
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NM_177550.5(SLC13A5):c.839+7T>G
|
|
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NM_177550.5(SLC13A5):c.839+8T>C
|
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NM_177550.5(SLC13A5):c.840-2A>G
|
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NM_177550.5(SLC13A5):c.849G>A (p.Lys283=)
|
rs141681787
|
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NM_177550.5(SLC13A5):c.858C>T (p.Gly286=)
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NM_177550.5(SLC13A5):c.85_101delinsT (p.Ile29fs)
|
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NM_177550.5(SLC13A5):c.872G>A (p.Ser291Asn)
|
|
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NM_177550.5(SLC13A5):c.882C>A (p.Asn294Lys)
|
|
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NM_177550.5(SLC13A5):c.883G>A (p.Glu295Lys)
|
rs749077002
|
|
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NM_177550.5(SLC13A5):c.889G>A (p.Ala297Thr)
|
rs1057524830
|
|
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NM_177550.5(SLC13A5):c.89T>C (p.Leu30Pro)
|
|
|
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NM_177550.5(SLC13A5):c.8C>G (p.Ser3Trp)
|
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NM_177550.5(SLC13A5):c.903G>A (p.Val301=)
|
|
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NM_177550.5(SLC13A5):c.90G>A (p.Leu30=)
|
|
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NM_177550.5(SLC13A5):c.919C>G (p.Arg307Gly)
|
rs769595777
|
|
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NM_177550.5(SLC13A5):c.919C>T (p.Arg307Trp)
|
rs769595777
|
|
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NM_177550.5(SLC13A5):c.930del (p.Leu312fs)
|
rs1973546077
|
|
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NM_177550.5(SLC13A5):c.944C>A (p.Ala315Glu)
|
rs138841868
|
|
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NM_177550.5(SLC13A5):c.949A>T (p.Ile317Phe)
|
|
|
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NM_177550.5(SLC13A5):c.981C>T (p.Val327=)
|
rs2151487186
|
|
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NM_177550.5(SLC13A5):c.987G>A (p.Leu329=)
|
rs1597663120
|
|
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NM_177550.5(SLC13A5):c.98C>A (p.Ala33Asp)
|
|
|
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NM_177550.5(SLC13A5):c.9G>A (p.Ser3=)
|
rs1318559097
|
|
|
Single allele
|
|
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