ClinVar Miner

List of variants in gene SLC25A13 reported as likely benign for Citrin deficiency

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Gene type:
ClinVar version:
Total variants: 414
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.1311+3A>G rs180844972 0.00092
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) rs148962110 0.00075
NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=) rs150021522 0.00032
NM_014251.3(SLC25A13):c.882T>C (p.Ala294=) rs138094550 0.00024
NM_014251.3(SLC25A13):c.1903G>T (p.Asp635Tyr) rs761035791 0.00016
NM_014251.3(SLC25A13):c.756G>A (p.Glu252=) rs141152495 0.00016
NM_014251.3(SLC25A13):c.1841+11T>C rs370546671 0.00015
NM_014251.3(SLC25A13):c.408A>G (p.Leu136=) rs188486690 0.00015
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=) rs376416252 0.00014
NM_014251.3(SLC25A13):c.849-4A>G rs368491877 0.00012
NM_014251.3(SLC25A13):c.1170G>T (p.Leu390=) rs377724262 0.00011
NM_014251.3(SLC25A13):c.483G>A (p.Glu161=) rs762752651 0.00009
NM_014251.3(SLC25A13):c.543C>T (p.Ile181=) rs370372951 0.00009
NM_014251.3(SLC25A13):c.1751-24T>C rs375555060 0.00006
NM_014251.3(SLC25A13):c.1751-4_1751-3insT rs765170811 0.00006
NM_014251.3(SLC25A13):c.534C>T (p.Val178=) rs776288888 0.00006
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile) rs531991442 0.00006
NM_014251.3(SLC25A13):c.165A>G (p.Pro55=) rs945380705 0.00005
NM_014251.3(SLC25A13):c.1869T>C (p.Pro623=) rs201931382 0.00005
NM_014251.3(SLC25A13):c.960A>G (p.Pro320=) rs765358773 0.00005
NM_014251.3(SLC25A13):c.1638G>A (p.Thr546=) rs143706021 0.00004
NM_014251.3(SLC25A13):c.1722A>G (p.Gly574=) rs760315798 0.00004
NM_014251.3(SLC25A13):c.1770A>T (p.Ser590=) rs769993871 0.00004
NM_014251.3(SLC25A13):c.615+8G>A rs557575818 0.00004
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu) rs139149160 0.00003
NM_014251.3(SLC25A13):c.212+16A>C rs780250852 0.00003
NM_014251.3(SLC25A13):c.1344T>C (p.Pro448=) rs1037190907 0.00002
NM_014251.3(SLC25A13):c.1353C>T (p.Ile451=) rs267601652 0.00002
NM_014251.3(SLC25A13):c.1419C>T (p.Val473=) rs201598915 0.00002
NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=) rs144494809 0.00002
NM_014251.3(SLC25A13):c.16-4A>G rs369564645 0.00002
NM_014251.3(SLC25A13):c.1695C>T (p.Cys565=) rs765192701 0.00002
NM_014251.3(SLC25A13):c.798C>T (p.Pro266=) rs988236127 0.00002
NM_014251.3(SLC25A13):c.1019-6T>C rs1207471194 0.00001
NM_014251.3(SLC25A13):c.1047C>T (p.Ile349=) rs768322999 0.00001
NM_014251.3(SLC25A13):c.1083A>T (p.Ser361=) rs202177210 0.00001
NM_014251.3(SLC25A13):c.108C>T (p.Ser36=) rs896670252 0.00001
NM_014251.3(SLC25A13):c.1177+8C>T rs1410802687 0.00001
NM_014251.3(SLC25A13):c.1185G>A (p.Leu395=) rs1794001316 0.00001
NM_014251.3(SLC25A13):c.1197G>A (p.Leu399=) rs373876605 0.00001
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=) rs747257110 0.00001
NM_014251.3(SLC25A13):c.1311+8C>G rs1415795866 0.00001
NM_014251.3(SLC25A13):c.1392T>G (p.Thr464=) rs770856997 0.00001
NM_014251.3(SLC25A13):c.1453-5T>C rs1339556280 0.00001
NM_014251.3(SLC25A13):c.1494C>T (p.Ala498=) rs1405058189 0.00001
NM_014251.3(SLC25A13):c.1560A>G (p.Pro520=) rs1792040995 0.00001
NM_014251.3(SLC25A13):c.1566C>T (p.Ser522=) rs771908277 0.00001
NM_014251.3(SLC25A13):c.1591+10C>A rs1457922451 0.00001
NM_014251.3(SLC25A13):c.1592-4G>A rs1283658557 0.00001
NM_014251.3(SLC25A13):c.1592-6C>T rs1380040472 0.00001
NM_014251.3(SLC25A13):c.1593T>C (p.Gly531=) rs1347392751 0.00001
NM_014251.3(SLC25A13):c.1665C>T (p.Gly555=) rs199735534 0.00001
NM_014251.3(SLC25A13):c.1750+8A>T rs749637750 0.00001
NM_014251.3(SLC25A13):c.1751-12A>G rs759064910 0.00001
NM_014251.3(SLC25A13):c.1751-14C>T rs11762136 0.00001
NM_014251.3(SLC25A13):c.1751-29A>G rs778800045 0.00001
NM_014251.3(SLC25A13):c.1800C>T (p.Tyr600=) rs765919667 0.00001
NM_014251.3(SLC25A13):c.1824C>T (p.Tyr608=) rs1053861538 0.00001
NM_014251.3(SLC25A13):c.1896G>A (p.Pro632=) rs764388459 0.00001
NM_014251.3(SLC25A13):c.1917C>T (p.Gly639=) rs769610597 0.00001
NM_014251.3(SLC25A13):c.1986G>A (p.Lys662=) rs778545092 0.00001
NM_014251.3(SLC25A13):c.225T>C (p.Phe75=) rs1796689041 0.00001
NM_014251.3(SLC25A13):c.255G>A (p.Leu85=) rs369071668 0.00001
NM_014251.3(SLC25A13):c.354G>A (p.Gln118=) rs1333222363 0.00001
NM_014251.3(SLC25A13):c.45T>C (p.Ala15=) rs142466552 0.00001
NM_014251.3(SLC25A13):c.507A>G (p.Gln169=) rs757796108 0.00001
NM_014251.3(SLC25A13):c.528G>C (p.Gly176=) rs769565327 0.00001
NM_014251.3(SLC25A13):c.558C>T (p.Ile186=) rs181615775 0.00001
NM_014251.3(SLC25A13):c.570C>T (p.Ile190=) rs1794922644 0.00001
NM_014251.3(SLC25A13):c.582C>T (p.Val194=) rs1311802793 0.00001
NM_014251.3(SLC25A13):c.606T>C (p.Cys202=) rs957746607 0.00001
NM_014251.3(SLC25A13):c.609A>G (p.Leu203=) rs751566503 0.00001
NM_014251.3(SLC25A13):c.666A>C (p.Gly222=) rs200838637 0.00001
NM_014251.3(SLC25A13):c.720G>A (p.Leu240=) rs545794488 0.00001
NM_014251.3(SLC25A13):c.755-6A>G rs747352641 0.00001
NM_014251.3(SLC25A13):c.75A>G (p.Ala25=) rs1024088586 0.00001
NM_014251.3(SLC25A13):c.768G>A (p.Leu256=) rs772252278 0.00001
NM_014251.3(SLC25A13):c.80T>G (p.Ile27Ser) rs774203119 0.00001
NM_014251.3(SLC25A13):c.822G>A (p.Gln274=) rs1322261920 0.00001
NM_014251.3(SLC25A13):c.849-8C>T rs927032469 0.00001
NM_014251.3(SLC25A13):c.849-9C>G rs775803606 0.00001
NM_014251.3(SLC25A13):c.84G>A (p.Glu28=) rs770435848 0.00001
NM_014251.3(SLC25A13):c.906C>T (p.Pro302=) rs1794753359 0.00001
NM_014251.3(SLC25A13):c.90C>T (p.Asn30=) rs777148254 0.00001
NM_014251.3(SLC25A13):c.933+10G>T rs774663950 0.00001
NM_014251.3(SLC25A13):c.984G>A (p.Ser328=) rs760851084 0.00001
NM_014251.3(SLC25A13):c.987C>G (p.Ala329=) rs1469897135 0.00001
NM_014251.3(SLC25A13):c.999T>G (p.Gly333=) rs748986342 0.00001
NM_014251.3(SLC25A13):c.1000C>T (p.Leu334=) rs769297213
NM_014251.3(SLC25A13):c.1008T>C (p.Ser336=) rs780663014
NM_014251.3(SLC25A13):c.1018+17del
NM_014251.3(SLC25A13):c.1018+7C>T
NM_014251.3(SLC25A13):c.1018+8A>G rs2116631280
NM_014251.3(SLC25A13):c.1018+9T>C
NM_014251.3(SLC25A13):c.1019-12G>A
NM_014251.3(SLC25A13):c.1019-20A>G
NM_014251.3(SLC25A13):c.1019-7A>C
NM_014251.3(SLC25A13):c.1020T>C (p.Ala340=)
NM_014251.3(SLC25A13):c.1029C>A (p.Ala343=) rs747945892
NM_014251.3(SLC25A13):c.1038G>A (p.Val346=) rs2116629531
NM_014251.3(SLC25A13):c.1053T>C (p.Leu351=)
NM_014251.3(SLC25A13):c.1056A>G (p.Val352=)
NM_014251.3(SLC25A13):c.1077A>G (p.Gln359=) rs2116629319
NM_014251.3(SLC25A13):c.1078C>A (p.Arg360=) rs80338721
NM_014251.3(SLC25A13):c.1080A>G (p.Arg360=)
NM_014251.3(SLC25A13):c.1084A>G (p.Thr362Ala)
NM_014251.3(SLC25A13):c.108C>G (p.Ser36=) rs896670252
NM_014251.3(SLC25A13):c.1104A>G (p.Glu368=) rs2116629184
NM_014251.3(SLC25A13):c.1107C>A (p.Leu369=) rs1372631359
NM_014251.3(SLC25A13):c.1107C>T (p.Leu369=) rs1372631359
NM_014251.3(SLC25A13):c.111C>T (p.Pro37=)
NM_014251.3(SLC25A13):c.1143G>A (p.Val381=) rs2116629012
NM_014251.3(SLC25A13):c.1158C>G (p.Gly386=)
NM_014251.3(SLC25A13):c.1177+12A>G
NM_014251.3(SLC25A13):c.1177+15C>G
NM_014251.3(SLC25A13):c.1177+17C>T
NM_014251.3(SLC25A13):c.1177+7G>A rs1330614401
NM_014251.3(SLC25A13):c.1178-13T>C
NM_014251.3(SLC25A13):c.1178-19A>G
NM_014251.3(SLC25A13):c.117C>T (p.Asp39=) rs2116939283
NM_014251.3(SLC25A13):c.1182G>A (p.Leu394=)
NM_014251.3(SLC25A13):c.1182G>C (p.Leu394=)
NM_014251.3(SLC25A13):c.1195T>C (p.Leu399=)
NM_014251.3(SLC25A13):c.1206C>T (p.Ala402=) rs774051691
NM_014251.3(SLC25A13):c.1230+15T>G
NM_014251.3(SLC25A13):c.1230+18G>A
NM_014251.3(SLC25A13):c.1230+18G>C
NM_014251.3(SLC25A13):c.1230+20G>A
NM_014251.3(SLC25A13):c.1230+20G>C
NM_014251.3(SLC25A13):c.1230+7C>G
NM_014251.3(SLC25A13):c.1231-14T>A
NM_014251.3(SLC25A13):c.1231-19A>G
NM_014251.3(SLC25A13):c.1231-20T>A
NM_014251.3(SLC25A13):c.1245G>A (p.Val415=)
NM_014251.3(SLC25A13):c.1248G>A (p.Arg416=)
NM_014251.3(SLC25A13):c.1251T>C (p.Asp417=)
NM_014251.3(SLC25A13):c.1254A>G (p.Lys418=) rs1584404332
NM_014251.3(SLC25A13):c.1263C>T (p.His421=) rs1793936845
NM_014251.3(SLC25A13):c.1269T>C (p.Asp423=) rs2116576946
NM_014251.3(SLC25A13):c.1278C>T (p.Val426=) rs1584404250
NM_014251.3(SLC25A13):c.129A>T (p.Arg43=)
NM_014251.3(SLC25A13):c.1311+8C>T
NM_014251.3(SLC25A13):c.1311+9C>T rs2116576668
NM_014251.3(SLC25A13):c.1312-11G>C
NM_014251.3(SLC25A13):c.1312-13T>C
NM_014251.3(SLC25A13):c.1312-20del
NM_014251.3(SLC25A13):c.1345T>C (p.Leu449=)
NM_014251.3(SLC25A13):c.1362C>A (p.Ile454=)
NM_014251.3(SLC25A13):c.1377A>G (p.Ala459=) rs2116481872
NM_014251.3(SLC25A13):c.1410T>G (p.Ala470=) rs2116481670
NM_014251.3(SLC25A13):c.1410_1411delinsCT (p.Ala470_Leu471=) rs2116481663
NM_014251.3(SLC25A13):c.1411C>T (p.Leu471=) rs1379185703
NM_014251.3(SLC25A13):c.1413G>T (p.Leu471=) rs780063972
NM_014251.3(SLC25A13):c.1425G>A (p.Arg475=) rs761211929
NM_014251.3(SLC25A13):c.1425G>T (p.Arg475=)
NM_014251.3(SLC25A13):c.1431G>C (p.Leu477=)
NM_014251.3(SLC25A13):c.1449C>T (p.Tyr483=)
NM_014251.3(SLC25A13):c.1452+18T>G
NM_014251.3(SLC25A13):c.1452+19T>G
NM_014251.3(SLC25A13):c.1452+20A>T
NM_014251.3(SLC25A13):c.1452+20del
NM_014251.3(SLC25A13):c.1452+9_1452+10insG rs771592795
NM_014251.3(SLC25A13):c.1453-11C>T
NM_014251.3(SLC25A13):c.1453-17C>A
NM_014251.3(SLC25A13):c.1453-4G>T
NM_014251.3(SLC25A13):c.1453-7T>C
NM_014251.3(SLC25A13):c.1464A>C (p.Ala488=) rs1244207348
NM_014251.3(SLC25A13):c.1464A>G (p.Ala488=) rs1244207348
NM_014251.3(SLC25A13):c.1467C>T (p.Cys489=)
NM_014251.3(SLC25A13):c.1473G>A (p.Leu491=)
NM_014251.3(SLC25A13):c.1491G>A (p.Ser497=)
NM_014251.3(SLC25A13):c.1509C>T (p.Cys503=) rs2116425913
NM_014251.3(SLC25A13):c.1515T>C (p.Ala505=) rs1198514509
NM_014251.3(SLC25A13):c.1524G>A (p.Lys508=) rs1792043109
NM_014251.3(SLC25A13):c.153C>T (p.Ser51=) rs1584551771
NM_014251.3(SLC25A13):c.1548G>A (p.Gly516=) rs750610043
NM_014251.3(SLC25A13):c.1567C>T (p.Leu523=) rs2116425512
NM_014251.3(SLC25A13):c.1569G>C (p.Leu523=) rs1792040536
NM_014251.3(SLC25A13):c.1572C>T (p.Leu524=)
NM_014251.3(SLC25A13):c.1578T>G (p.Ala526=)
NM_014251.3(SLC25A13):c.1581T>G (p.Gly527=) rs1792040031
NM_014251.3(SLC25A13):c.1591+10C>G rs1457922451
NM_014251.3(SLC25A13):c.1591+10C>T
NM_014251.3(SLC25A13):c.1591+11C>T
NM_014251.3(SLC25A13):c.1591+13C>A
NM_014251.3(SLC25A13):c.1591+14A>G
NM_014251.3(SLC25A13):c.1591+17G>A
NM_014251.3(SLC25A13):c.1591+19G>A
NM_014251.3(SLC25A13):c.1591+7G>A rs1562782419
NM_014251.3(SLC25A13):c.1591+9C>G
NM_014251.3(SLC25A13):c.1591+9C>T rs1183597028
NM_014251.3(SLC25A13):c.1592-13G>A
NM_014251.3(SLC25A13):c.1592-13_1592-12del
NM_014251.3(SLC25A13):c.1592-14T>C
NM_014251.3(SLC25A13):c.1592-15G>T
NM_014251.3(SLC25A13):c.1592-20G>T
NM_014251.3(SLC25A13):c.1592-4G>T
NM_014251.3(SLC25A13):c.1592-7C>T rs2116384875
NM_014251.3(SLC25A13):c.1592-9C>G
NM_014251.3(SLC25A13):c.1592-9C>T rs2116384900
NM_014251.3(SLC25A13):c.159T>C (p.Pro53=) rs767377944
NM_014251.3(SLC25A13):c.16-10T>C
NM_014251.3(SLC25A13):c.16-12G>A
NM_014251.3(SLC25A13):c.16-12G>T
NM_014251.3(SLC25A13):c.16-14_16-13del
NM_014251.3(SLC25A13):c.16-8A>G
NM_014251.3(SLC25A13):c.1602A>G (p.Ala534=)
NM_014251.3(SLC25A13):c.1605A>G (p.Ala535=)
NM_014251.3(SLC25A13):c.1608T>C (p.Ser536=) rs768148130
NM_014251.3(SLC25A13):c.1611A>G (p.Leu537=)
NM_014251.3(SLC25A13):c.1617C>G (p.Thr539=)
NM_014251.3(SLC25A13):c.1635G>A (p.Lys545=) rs756177534
NM_014251.3(SLC25A13):c.1638G>C (p.Thr546=)
NM_014251.3(SLC25A13):c.1644A>G (p.Leu548=) rs1226619904
NM_014251.3(SLC25A13):c.1647G>A (p.Gln549=) rs2116384374
NM_014251.3(SLC25A13):c.1650G>T (p.Val550=) rs2116384346
NM_014251.3(SLC25A13):c.1653T>C (p.Ala551=) rs2116384330
NM_014251.3(SLC25A13):c.1656C>T (p.Ala552=) rs765072433
NM_014251.3(SLC25A13):c.1657C>A (p.Arg553=)
NM_014251.3(SLC25A13):c.1662T>C (p.Ala554=) rs2116384173
NM_014251.3(SLC25A13):c.1668A>G (p.Gln556=)
NM_014251.3(SLC25A13):c.1689A>T (p.Ile563=) rs2116383941
NM_014251.3(SLC25A13):c.168G>A (p.Lys56=)
NM_014251.3(SLC25A13):c.1722A>T (p.Gly574=) rs760315798
NM_014251.3(SLC25A13):c.1725A>G (p.Pro575=)
NM_014251.3(SLC25A13):c.1725A>T (p.Pro575=)
NM_014251.3(SLC25A13):c.1740G>A (p.Lys580=) rs1791522939
NM_014251.3(SLC25A13):c.1750+13T>C
NM_014251.3(SLC25A13):c.1750+14G>A
NM_014251.3(SLC25A13):c.1750+16G>A
NM_014251.3(SLC25A13):c.1750+18T>C
NM_014251.3(SLC25A13):c.1751-12_1751-10del rs752982681
NM_014251.3(SLC25A13):c.1751-21G>A
NM_014251.3(SLC25A13):c.1751-22T>C rs2116383375
NM_014251.3(SLC25A13):c.1751-23G>T
NM_014251.3(SLC25A13):c.1751-26T>C
NM_014251.3(SLC25A13):c.1751-27A>G rs368163332
NM_014251.3(SLC25A13):c.1751-27A>T rs368163332
NM_014251.3(SLC25A13):c.1751-28T>C
NM_014251.3(SLC25A13):c.1751-7T>C rs2116383263
NM_014251.3(SLC25A13):c.1751-9T>C
NM_014251.3(SLC25A13):c.1751-9T>G
NM_014251.3(SLC25A13):c.1773C>T (p.Pro591=)
NM_014251.3(SLC25A13):c.1788T>C (p.Thr596=)
NM_014251.3(SLC25A13):c.1789T>C (p.Leu597=)
NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=) rs757177279
NM_014251.3(SLC25A13):c.1797T>G (p.Thr599=)
NM_014251.3(SLC25A13):c.1806G>A (p.Leu602=) rs2116382744
NM_014251.3(SLC25A13):c.1809A>G (p.Leu603=) rs755823140
NM_014251.3(SLC25A13):c.1812G>A (p.Gln604=)
NM_014251.3(SLC25A13):c.1841+12G>C
NM_014251.3(SLC25A13):c.1841+13C>A
NM_014251.3(SLC25A13):c.1841+17A>G
NM_014251.3(SLC25A13):c.1841+18T>C
NM_014251.3(SLC25A13):c.1841+19C>T
NM_014251.3(SLC25A13):c.1841+9C>T rs2116382480
NM_014251.3(SLC25A13):c.1845A>G (p.Lys615=) rs751199034
NM_014251.3(SLC25A13):c.1854A>C (p.Gly618=) rs760572056
NM_014251.3(SLC25A13):c.1905T>C (p.Asp635=) rs1791493740
NM_014251.3(SLC25A13):c.1908C>T (p.His636=) rs2116380705
NM_014251.3(SLC25A13):c.1924C>T (p.Leu642=) rs2116380508
NM_014251.3(SLC25A13):c.1935T>G (p.Ala645=) rs1250676895
NM_014251.3(SLC25A13):c.1938A>G (p.Thr646=)
NM_014251.3(SLC25A13):c.1944A>C (p.Ala648=) rs1791491213
NM_014251.3(SLC25A13):c.195G>A (p.Val65=) rs2116938852
NM_014251.3(SLC25A13):c.1971C>T (p.Tyr657=)
NM_014251.3(SLC25A13):c.1972C>T (p.Leu658=) rs1791489001
NM_014251.3(SLC25A13):c.1977T>C (p.Pro659=)
NM_014251.3(SLC25A13):c.1983C>T (p.Phe661=) rs2116380137
NM_014251.3(SLC25A13):c.1995A>G (p.Val665=)
NM_014251.3(SLC25A13):c.1998T>C (p.Ser666=)
NM_014251.3(SLC25A13):c.2004A>G (p.Ser668=)
NM_014251.3(SLC25A13):c.2013T>C (p.Ile671=)
NM_014251.3(SLC25A13):c.201G>A (p.Gln67=)
NM_014251.3(SLC25A13):c.212+13T>G
NM_014251.3(SLC25A13):c.213-14_213-10del rs757915456
NM_014251.3(SLC25A13):c.213-19T>C
NM_014251.3(SLC25A13):c.213-20A>G
NM_014251.3(SLC25A13):c.213-4G>C
NM_014251.3(SLC25A13):c.213-7G>T rs2116815938
NM_014251.3(SLC25A13):c.21T>C (p.Ala7=) rs1336480972
NM_014251.3(SLC25A13):c.231A>G (p.Glu77=)
NM_014251.3(SLC25A13):c.252C>G (p.Val84=) rs2116815724
NM_014251.3(SLC25A13):c.255G>C (p.Leu85=)
NM_014251.3(SLC25A13):c.270T>A (p.Ala90=)
NM_014251.3(SLC25A13):c.270T>C (p.Ala90=)
NM_014251.3(SLC25A13):c.276T>C (p.Phe92=) rs2116815561
NM_014251.3(SLC25A13):c.294G>A (p.Leu98=)
NM_014251.3(SLC25A13):c.294G>T (p.Leu98=) rs1033654356
NM_014251.3(SLC25A13):c.328+10A>G rs2116815256
NM_014251.3(SLC25A13):c.328+14T>C
NM_014251.3(SLC25A13):c.328+14T>G
NM_014251.3(SLC25A13):c.328+18G>A
NM_014251.3(SLC25A13):c.328+7A>G
NM_014251.3(SLC25A13):c.328+8G>A rs2116815272
NM_014251.3(SLC25A13):c.329-11T>C
NM_014251.3(SLC25A13):c.329-13T>C
NM_014251.3(SLC25A13):c.329-16T>C
NM_014251.3(SLC25A13):c.329-20C>G
NM_014251.3(SLC25A13):c.333T>C (p.Asp111=) rs1349801909
NM_014251.3(SLC25A13):c.357C>T (p.Thr119=)
NM_014251.3(SLC25A13):c.36A>C (p.Ala12=)
NM_014251.3(SLC25A13):c.378A>G (p.Pro126=) rs1318385882
NM_014251.3(SLC25A13):c.402G>A (p.Val134=) rs1795572796
NM_014251.3(SLC25A13):c.42A>C (p.Pro14=)
NM_014251.3(SLC25A13):c.438G>T (p.Leu146=) rs140121008
NM_014251.3(SLC25A13):c.444T>C (p.Tyr148=) rs1179803348
NM_014251.3(SLC25A13):c.453T>C (p.Phe151=)
NM_014251.3(SLC25A13):c.466T>C (p.Leu156=) rs1795568578
NM_014251.3(SLC25A13):c.468+10G>C
NM_014251.3(SLC25A13):c.468+11C>A
NM_014251.3(SLC25A13):c.468+11C>T
NM_014251.3(SLC25A13):c.468+19_468+20insT
NM_014251.3(SLC25A13):c.468+7C>T
NM_014251.3(SLC25A13):c.468+8T>A rs1436723624
NM_014251.3(SLC25A13):c.469-12C>A
NM_014251.3(SLC25A13):c.469-12_469-9del
NM_014251.3(SLC25A13):c.469-13T>G
NM_014251.3(SLC25A13):c.469-13del
NM_014251.3(SLC25A13):c.469-14T>A
NM_014251.3(SLC25A13):c.469-17A>C
NM_014251.3(SLC25A13):c.469-17A>G
NM_014251.3(SLC25A13):c.469-17A>T
NM_014251.3(SLC25A13):c.469-19T>C
NM_014251.3(SLC25A13):c.471A>G (p.Glu157=)
NM_014251.3(SLC25A13):c.477A>G (p.Gln159=) rs2116663498
NM_014251.3(SLC25A13):c.486C>T (p.His162=) rs1562831788
NM_014251.3(SLC25A13):c.48G>A (p.Glu16=)
NM_014251.3(SLC25A13):c.492G>A (p.Lys164=) rs2116663375
NM_014251.3(SLC25A13):c.504G>A (p.Val168=)
NM_014251.3(SLC25A13):c.508C>A (p.Arg170=)
NM_014251.3(SLC25A13):c.528G>A (p.Gly176=)
NM_014251.3(SLC25A13):c.534C>G (p.Val178=)
NM_014251.3(SLC25A13):c.537A>C (p.Thr179=)
NM_014251.3(SLC25A13):c.543C>A (p.Ile181=) rs370372951
NM_014251.3(SLC25A13):c.564C>T (p.Val188=)
NM_014251.3(SLC25A13):c.567C>T (p.Thr189=) rs2116662877
NM_014251.3(SLC25A13):c.573C>T (p.Arg191=)
NM_014251.3(SLC25A13):c.582C>A (p.Val194=) rs1311802793
NM_014251.3(SLC25A13):c.582C>G (p.Val194=)
NM_014251.3(SLC25A13):c.597A>G (p.Val199=)
NM_014251.3(SLC25A13):c.60A>T (p.Ile20=) rs745497684
NM_014251.3(SLC25A13):c.615+13T>C
NM_014251.3(SLC25A13):c.615+15G>T
NM_014251.3(SLC25A13):c.615+19T>C
NM_014251.3(SLC25A13):c.615+8G>T rs557575818
NM_014251.3(SLC25A13):c.616-15T>C
NM_014251.3(SLC25A13):c.624A>C (p.Gly208=)
NM_014251.3(SLC25A13):c.633A>C (p.Thr211=) rs1794836188
NM_014251.3(SLC25A13):c.633A>G (p.Thr211=)
NM_014251.3(SLC25A13):c.654C>T (p.Ser218=) rs1794834839
NM_014251.3(SLC25A13):c.663T>C (p.Asn221=) rs1794834417
NM_014251.3(SLC25A13):c.666A>T (p.Gly222=)
NM_014251.3(SLC25A13):c.66G>A (p.Leu22=) rs2116994800
NM_014251.3(SLC25A13):c.675G>T (p.Ser225=) rs78247004
NM_014251.3(SLC25A13):c.678C>G (p.Leu226=) rs760655625
NM_014251.3(SLC25A13):c.69+12G>A
NM_014251.3(SLC25A13):c.69+15A>G
NM_014251.3(SLC25A13):c.69+7A>G
NM_014251.3(SLC25A13):c.693A>G (p.Glu231=)
NM_014251.3(SLC25A13):c.70-13T>G
NM_014251.3(SLC25A13):c.70-17T>A
NM_014251.3(SLC25A13):c.70-18T>C
NM_014251.3(SLC25A13):c.70-4dup
NM_014251.3(SLC25A13):c.70-7T>A
NM_014251.3(SLC25A13):c.70-7T>C
NM_014251.3(SLC25A13):c.711T>C (p.Tyr237=) rs886062529
NM_014251.3(SLC25A13):c.714C>T (p.Ser238=)
NM_014251.3(SLC25A13):c.729C>G (p.Thr243=)
NM_014251.3(SLC25A13):c.732G>A (p.Arg244=)
NM_014251.3(SLC25A13):c.744A>G (p.Glu248=)
NM_014251.3(SLC25A13):c.747G>C (p.Val249=)
NM_014251.3(SLC25A13):c.747G>T (p.Val249=)
NM_014251.3(SLC25A13):c.754+10A>C
NM_014251.3(SLC25A13):c.754+13A>T
NM_014251.3(SLC25A13):c.754+16T>G
NM_014251.3(SLC25A13):c.754+17C>T
NM_014251.3(SLC25A13):c.754+8A>C
NM_014251.3(SLC25A13):c.755-10T>C
NM_014251.3(SLC25A13):c.755-15T>G
NM_014251.3(SLC25A13):c.755-24_755-3del rs746604745
NM_014251.3(SLC25A13):c.755-5T>C rs2116650285
NM_014251.3(SLC25A13):c.755-7C>G
NM_014251.3(SLC25A13):c.765T>C (p.Val255=) rs2116650187
NM_014251.3(SLC25A13):c.807T>G (p.Val269=) rs934024804
NM_014251.3(SLC25A13):c.816G>A (p.Leu272=)
NM_014251.3(SLC25A13):c.81T>C (p.Ile27=)
NM_014251.3(SLC25A13):c.848+10C>G
NM_014251.3(SLC25A13):c.848+12T>C
NM_014251.3(SLC25A13):c.848+13T>C
NM_014251.3(SLC25A13):c.848+15T>C
NM_014251.3(SLC25A13):c.848+15T>G rs779039067
NM_014251.3(SLC25A13):c.848+8G>A rs761126981
NM_014251.3(SLC25A13):c.848+9G>A rs201395793
NM_014251.3(SLC25A13):c.849-12T>C
NM_014251.3(SLC25A13):c.849-6C>T
NM_014251.3(SLC25A13):c.858C>T (p.Thr286=) rs2116648520
NM_014251.3(SLC25A13):c.864A>G (p.Ala288=)
NM_014251.3(SLC25A13):c.873A>G (p.Glu291=) rs1223728106
NM_014251.3(SLC25A13):c.874C>A (p.Arg292=)
NM_014251.3(SLC25A13):c.876G>T (p.Arg292=) rs1794755283
NM_014251.3(SLC25A13):c.885T>A (p.Pro295=)
NM_014251.3(SLC25A13):c.885T>G (p.Pro295=)
NM_014251.3(SLC25A13):c.906C>A (p.Pro302=)
NM_014251.3(SLC25A13):c.930G>A (p.Arg310=)
NM_014251.3(SLC25A13):c.933+12G>A
NM_014251.3(SLC25A13):c.934-11A>C
NM_014251.3(SLC25A13):c.934-11A>G
NM_014251.3(SLC25A13):c.934-16T>C
NM_014251.3(SLC25A13):c.934-7A>G
NM_014251.3(SLC25A13):c.957A>G (p.Arg319=)
NM_014251.3(SLC25A13):c.963T>C (p.Val321=)
NM_014251.3(SLC25A13):c.978A>G (p.Ala326=) rs776848302
NM_014251.3(SLC25A13):c.990C>T (p.Tyr330=) rs534585904

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