ClinVar Miner

List of variants in gene SLC25A13 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 635
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) rs35539807 0.02629
NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=) rs79886797 0.01284
NM_014251.3(SLC25A13):c.93T>C (p.Gly31=) rs78430478 0.01089
NM_014251.3(SLC25A13):c.675G>A (p.Ser225=) rs78247004 0.01022
NM_014251.3(SLC25A13):c.1374G>A (p.Val458=) rs115266882 0.00605
NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=) rs150082469 0.00244
NM_014251.3(SLC25A13):c.1434G>T (p.Gly478=) rs146111714 0.00178
NM_014251.3(SLC25A13):c.329-17G>C rs185938432 0.00105
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.1230+11T>C rs201352939 0.00060
NM_014251.3(SLC25A13):c.1618C>T (p.Pro540Ser) rs75622628 0.00052
NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=) rs150021522 0.00032
NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val) rs35996658 0.00028
NM_014251.3(SLC25A13):c.1681G>A (p.Gly561Arg) rs142801864 0.00025
NM_014251.3(SLC25A13):c.882T>C (p.Ala294=) rs138094550 0.00024
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile) rs143877538 0.00019
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.1945G>C (p.Gly649Arg) rs757317844 0.00013
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.934-3C>T rs767051127 0.00011
NM_014251.3(SLC25A13):c.1814G>A (p.Arg605Gln) rs548194276 0.00010
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.848+3A>C rs369402461 0.00009
NM_014251.3(SLC25A13):c.1842-12C>A rs201468457 0.00008
NM_014251.3(SLC25A13):c.848G>A (p.Gly283Glu) rs544756381 0.00008
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.1813C>T (p.Arg605Ter) rs80338729 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.1079G>A (p.Arg360Gln) rs918547530 0.00005
NM_014251.3(SLC25A13):c.165A>G (p.Pro55=) rs945380705 0.00005
NM_014251.3(SLC25A13):c.1754G>A (p.Arg585His) rs367770143 0.00005
NM_014251.3(SLC25A13):c.1869T>C (p.Pro623=) rs201931382 0.00005
NM_014251.3(SLC25A13):c.454A>G (p.Thr152Ala) rs146131228 0.00005
NM_014251.3(SLC25A13):c.551G>A (p.Arg184Gln) rs142427515 0.00005
NM_014251.3(SLC25A13):c.960A>G (p.Pro320=) rs765358773 0.00005
NM_014251.3(SLC25A13):c.1231-1G>A rs781452100 0.00004
NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn) rs553863381 0.00004
NM_014251.3(SLC25A13):c.1475G>A (p.Arg492Gln) rs769939259 0.00004
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.421G>A (p.Glu141Lys) rs1131697 0.00004
NM_014251.3(SLC25A13):c.615+8G>A rs557575818 0.00004
NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter) rs758827458 0.00003
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter) rs780525233 0.00003
NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=) rs879255502 0.00003
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu) rs139149160 0.00003
NM_014251.3(SLC25A13):c.158C>T (p.Pro53Leu) rs753950441 0.00003
NM_014251.3(SLC25A13):c.1658G>A (p.Arg553Gln) rs201283753 0.00003
NM_014251.3(SLC25A13):c.1711C>T (p.Arg571Cys) rs753626243 0.00003
NM_014251.3(SLC25A13):c.212+16A>C rs780250852 0.00003
NM_014251.3(SLC25A13):c.615+5G>A rs80338717 0.00003
NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn) rs1312396424 0.00002
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.1631T>C (p.Ile544Thr) rs754054414 0.00002
NM_014251.3(SLC25A13):c.1695C>T (p.Cys565=) rs765192701 0.00002
NM_014251.3(SLC25A13):c.332A>G (p.Asp111Gly) rs766809778 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.1064G>A (p.Arg355Gln) rs398122839 0.00001
NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter) rs80338721 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.1147C>T (p.Arg383Cys) rs983514448 0.00001
NM_014251.3(SLC25A13):c.1173T>G (p.Tyr391Ter) rs762925301 0.00001
NM_014251.3(SLC25A13):c.1177+1G>A rs80338722 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.1231G>A (p.Val411Met) rs768922690 0.00001
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=) rs747257110 0.00001
NM_014251.3(SLC25A13):c.1311+1G>A rs80338723 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.1438T>C (p.Phe480Leu) rs759905821 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.1547G>A (p.Gly516Glu) rs763244253 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.1637C>G (p.Thr546Arg) rs548769905 0.00001
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) rs80338725 0.00001
NM_014251.3(SLC25A13):c.1660G>A (p.Ala554Thr) rs774907889 0.00001
NM_014251.3(SLC25A13):c.1665C>T (p.Gly555=) rs199735534 0.00001
NM_014251.3(SLC25A13):c.1677C>G (p.Tyr559Ter) rs201168119 0.00001
NM_014251.3(SLC25A13):c.173T>C (p.Val58Ala) rs1397231627 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.1762C>T (p.Arg588Ter) rs1261058897 0.00001
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln) rs121908532 0.00001
NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter) rs80338726 0.00001
NM_014251.3(SLC25A13):c.1800C>T (p.Tyr600=) rs765919667 0.00001
NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys) rs80338727 0.00001
NM_014251.3(SLC25A13):c.1824C>T (p.Tyr608=) rs1053861538 0.00001
NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn) rs577901657 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.318A>G (p.Glu106=) rs772488794 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.550C>T (p.Arg184Ter) rs80338716 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.576C>G (p.Pro192=) rs753114158 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.70-1G>A rs962082210 0.00001
NM_014251.3(SLC25A13):c.710A>G (p.Tyr237Cys) rs748764269 0.00001
NM_014251.3(SLC25A13):c.720G>A (p.Leu240=) rs545794488 0.00001
NM_014251.3(SLC25A13):c.723T>G (p.Ala241=) rs577055233 0.00001
NM_014251.3(SLC25A13):c.73G>A (p.Ala25Thr) rs759288496 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.809A>G (p.Asp270Gly) rs751343245 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.848+1G>T rs761370420 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.874C>T (p.Arg292Trp) rs142308242 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.916G>A (p.Ala306Thr) rs1365501165 0.00001
NM_014251.3(SLC25A13):c.922G>A (p.Ala308Thr) rs922613966 0.00001
NM_014251.3(SLC25A13):c.933+10G>T rs774663950 0.00001
NM_014251.3(SLC25A13):c.955C>T (p.Arg319Ter) rs763191789 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
NC_000007.13:g.(?_95749522)_(95751319_?)del
NC_000007.13:g.(?_95761045)_(95761203_?)dup
NC_000007.13:g.(?_95799347)_(95800846_?)del
NC_000007.13:g.(?_95799347)_(95838299_?)dup
NC_000007.13:g.(?_95812693)_(95813744_?)del
NC_000007.13:g.(?_95838130)_(95838309_?)del
NC_000007.13:g.(?_95838140)_(95838299_?)del
NC_000007.13:g.(?_95906488)_(95951268_?)dup
NC_000007.13:g.(?_95906498)_(95906660_?)del
NC_000007.13:g.(?_95906498)_(95926273_?)dup
NC_000007.14:g.(?_96121171)_(96321976_?)dup
NC_000007.14:g.(?_96191099)_(96193193_?)del
NC_000007.14:g.(?_96234792)_(96234927_?)del
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.1012G>C (p.Ala338Pro) rs2116631318
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.1063C>G (p.Arg355Gly) rs758827458
NM_014251.3(SLC25A13):c.1075C>T (p.Gln359Ter) rs1794541339
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.107C>G (p.Ser36Cys) rs1447976736
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.1095del (p.Phe365fs) rs1794540164
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.110C>G (p.Pro37Arg)
NM_014251.3(SLC25A13):c.111C>T (p.Pro37=)
NM_014251.3(SLC25A13):c.111del (p.Asn38fs) rs2116939333
NM_014251.3(SLC25A13):c.1143G>A (p.Val381=) rs2116629012
NM_014251.3(SLC25A13):c.1151A>T (p.Tyr384Phe) rs1197228945
NM_014251.3(SLC25A13):c.1158C>G (p.Gly386=)
NM_014251.3(SLC25A13):c.1164del (p.Phe388fs)
NM_014251.3(SLC25A13):c.1173dup (p.Arg392Ter) rs1794536022
NM_014251.3(SLC25A13):c.1177+12A>G
NM_014251.3(SLC25A13):c.1177+15C>G
NM_014251.3(SLC25A13):c.1177+17C>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.1178-1G>C
NM_014251.3(SLC25A13):c.1178-1G>T rs1794001446
NM_014251.3(SLC25A13):c.117C>T (p.Asp39=) rs2116939283
NM_014251.3(SLC25A13):c.1182G>C (p.Leu394=)
NM_014251.3(SLC25A13):c.1193del (p.Leu398fs)
NM_014251.3(SLC25A13):c.1195T>C (p.Leu399=)
NM_014251.3(SLC25A13):c.1196T>A (p.Leu399Ter) rs1004549438
NM_014251.3(SLC25A13):c.1206C>T (p.Ala402=) rs774051691
NM_014251.3(SLC25A13):c.1228dup (p.Thr410fs) rs1286193203
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+1G>A
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.1231-20T>A
NM_014251.3(SLC25A13):c.1245G>A (p.Val415=)
NM_014251.3(SLC25A13):c.1248G>A (p.Arg416=)
NM_014251.3(SLC25A13):c.124del (p.Thr42fs) rs2116939236
NM_014251.3(SLC25A13):c.1251T>C (p.Asp417=)
NM_014251.3(SLC25A13):c.1254A>G (p.Lys418=) rs1584404332
NM_014251.3(SLC25A13):c.1256T>G (p.Phe419Cys) rs2116577055
NM_014251.3(SLC25A13):c.1258del (p.Met420fs)
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.1274C>T (p.Ser425Leu)
NM_014251.3(SLC25A13):c.1278C>T (p.Val426=) rs1584404250
NM_014251.3(SLC25A13):c.129A>T (p.Arg43=)
NM_014251.3(SLC25A13):c.1307G>A (p.Gly436Asp)
NM_014251.3(SLC25A13):c.1311+1G>C
NM_014251.3(SLC25A13):c.1311+8C>T
NM_014251.3(SLC25A13):c.1311+9C>T rs2116576668
NM_014251.3(SLC25A13):c.1311C>A (p.Cys437Ter) rs879255502
NM_014251.3(SLC25A13):c.1312-12del rs771217878
NM_014251.3(SLC25A13):c.1312-13T>C
NM_014251.3(SLC25A13):c.1316G>A (p.Gly439Glu)
NM_014251.3(SLC25A13):c.1324C>T (p.Gln442Ter) rs2116482158
NM_014251.3(SLC25A13):c.132C>G (p.Tyr44Ter) rs2116939192
NM_014251.3(SLC25A13):c.1340A>G (p.Asn447Ser)
NM_014251.3(SLC25A13):c.1345T>C (p.Leu449=)
NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe) rs1798490375
NM_014251.3(SLC25A13):c.1362C>A (p.Ile454=)
NM_014251.3(SLC25A13):c.1375del (p.Ala459fs) rs1178306013
NM_014251.3(SLC25A13):c.1377A>G (p.Ala459=) rs2116481872
NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter) rs540149539
NM_014251.3(SLC25A13):c.1400G>A (p.Arg467Gln)
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>G (p.Leu471Val)
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.1415C>T (p.Ser472Phe) rs749990010
NM_014251.3(SLC25A13):c.1416_1419del (p.Val473fs) rs773624358
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met) rs554809009
NM_014251.3(SLC25A13):c.1420G>C (p.Val474Leu)
NM_014251.3(SLC25A13):c.1424G>A (p.Arg475Gln)
NM_014251.3(SLC25A13):c.1425G>A (p.Arg475=) rs761211929
NM_014251.3(SLC25A13):c.1431G>C (p.Leu477=)
NM_014251.3(SLC25A13):c.1433G>A (p.Gly478Glu) rs1792802405
NM_014251.3(SLC25A13):c.1448A>G (p.Tyr483Cys)
NM_014251.3(SLC25A13):c.1449C>A (p.Tyr483Ter) rs1792801432
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+1G>A rs2116481274
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.1453-1G>A rs1792048079
NM_014251.3(SLC25A13):c.1453-2A>G
NM_014251.3(SLC25A13):c.1453-2A>T rs2116426311
NM_014251.3(SLC25A13):c.1453-3C>T
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.1486_1489del (p.Phe496fs) rs756182703
NM_014251.3(SLC25A13):c.1491G>A (p.Ser497=)
NM_014251.3(SLC25A13):c.1495A>G (p.Ile499Val) rs1388764303
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.152del (p.Ser51fs)
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+4A>G
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.1592G>A (p.Gly531Asp) rs80338724
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.16-2A>G rs1799374421
NM_014251.3(SLC25A13):c.16-8A>G
NM_014251.3(SLC25A13):c.1602A>G (p.Ala534=)
NM_014251.3(SLC25A13):c.1603_1609dup (p.Leu537fs) rs1791532136
NM_014251.3(SLC25A13):c.1605A>G (p.Ala535=)
NM_014251.3(SLC25A13):c.1608T>C (p.Ser536=) rs768148130
NM_014251.3(SLC25A13):c.1610del (p.Ser536_Leu537insTer) rs750225643
NM_014251.3(SLC25A13):c.1611A>G (p.Leu537=)
NM_014251.3(SLC25A13):c.1612del (p.Leu537_Val538insTer) rs2116384695
NM_014251.3(SLC25A13):c.1617C>G (p.Thr539=)
NM_014251.3(SLC25A13):c.1622C>A (p.Ala541Asp)
NM_014251.3(SLC25A13):c.1633_1637dup (p.Leu548fs) rs2116384455
NM_014251.3(SLC25A13):c.1635G>A (p.Lys545=) rs756177534
NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met) rs548769905
NM_014251.3(SLC25A13):c.1643T>G (p.Leu548Ter)
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.1653_1655del (p.Ala552del) rs781077173
NM_014251.3(SLC25A13):c.1656C>T (p.Ala552=) rs765072433
NM_014251.3(SLC25A13):c.1658_1661dup (p.Gln556fs) rs2116384200
NM_014251.3(SLC25A13):c.1662T>C (p.Ala554=) rs2116384173
NM_014251.3(SLC25A13):c.1666_1842-31del rs2116381204
NM_014251.3(SLC25A13):c.1668A>G (p.Gln556=)
NM_014251.3(SLC25A13):c.1676dup (p.Tyr559Ter)
NM_014251.3(SLC25A13):c.1677C>A (p.Tyr559Ter)
NM_014251.3(SLC25A13):c.1689A>T (p.Ile563=) rs2116383941
NM_014251.3(SLC25A13):c.168G>A (p.Lys56=)
NM_014251.3(SLC25A13):c.1712G>A (p.Arg571His)
NM_014251.3(SLC25A13):c.1712del (p.Arg571fs) rs1554335461
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.173_174del (p.Val58fs) rs1798487766
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.1750+1G>C rs771583670
NM_014251.3(SLC25A13):c.1750+2T>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.1751-5_1751-4insGATTTCTCCATTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCC
NM_014251.3(SLC25A13):c.1751-5del rs1173610818
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.175del (p.Glu59fs)
NM_014251.3(SLC25A13):c.1769C>A (p.Ser590Ter)
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.1801G>T (p.Glu601Ter) rs80338727
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.1818G>T (p.Trp606Cys) rs893906065
NM_014251.3(SLC25A13):c.1833del (p.Phe611fs) rs1791512056
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+3_1841+4del
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.1894C>T (p.Pro632Ser) rs2116380826
NM_014251.3(SLC25A13):c.1895C>T (p.Pro632Leu)
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.1955A>G (p.Asn652Ser)
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.2026T>C (p.Ter676Gln)
NM_014251.3(SLC25A13):c.212+13T>G
NM_014251.3(SLC25A13):c.212+14del
NM_014251.3(SLC25A13):c.213-10dup rs752612661
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.213-2A>C
NM_014251.3(SLC25A13):c.213-2A>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.229G>T (p.Glu77Ter) rs1254503252
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.276del (p.Phe92fs) rs2116815571
NM_014251.3(SLC25A13):c.27del (p.Lys10fs)
NM_014251.3(SLC25A13):c.294G>A (p.Leu98=)
NM_014251.3(SLC25A13):c.294G>T (p.Leu98=) rs1033654356
NM_014251.3(SLC25A13):c.306T>C (p.Ala102=) rs565008080
NM_014251.3(SLC25A13):c.308G>A (p.Gly103Asp) rs2116815391
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+1G>T rs1796684525
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.329-1G>A
NM_014251.3(SLC25A13):c.329-20C>G
NM_014251.3(SLC25A13):c.329-2A>G
NM_014251.3(SLC25A13):c.329-4dup rs1472181392
NM_014251.3(SLC25A13):c.333T>C (p.Asp111=) rs1349801909
NM_014251.3(SLC25A13):c.357C>T (p.Thr119=)
NM_014251.3(SLC25A13):c.363del (p.His122fs)
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.415G>A (p.Gly139Arg) rs1269555090
NM_014251.3(SLC25A13):c.415_428del (p.Gly139fs)
NM_014251.3(SLC25A13):c.416G>A (p.Gly139Glu)
NM_014251.3(SLC25A13):c.420del (p.Glu141fs) rs1562844289
NM_014251.3(SLC25A13):c.429_430del (p.Arg144fs) rs2116717319
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.457C>T (p.Gln153Ter) rs2116717136
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.469-2A>G
NM_014251.3(SLC25A13):c.471A>G (p.Glu157=)
NM_014251.3(SLC25A13):c.475C>T (p.Gln159Ter) rs2116663520
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.493C>T (p.Gln165Ter) rs1562831765
NM_014251.3(SLC25A13):c.504G>A (p.Val168=)
NM_014251.3(SLC25A13):c.508C>A (p.Arg170=)
NM_014251.3(SLC25A13):c.517G>T (p.Ala173Ser) rs1387446179
NM_014251.3(SLC25A13):c.528G>A (p.Gly176=)
NM_014251.3(SLC25A13):c.528dup (p.Arg177fs) rs1794924933
NM_014251.3(SLC25A13):c.534C>G (p.Val178=)
NM_014251.3(SLC25A13):c.535dup (p.Thr179fs)
NM_014251.3(SLC25A13):c.537A>C (p.Thr179=)
NM_014251.3(SLC25A13):c.53G>C (p.Arg18Thr)
NM_014251.3(SLC25A13):c.543C>A (p.Ile181=) rs370372951
NM_014251.3(SLC25A13):c.550del (p.Arg184fs)
NM_014251.3(SLC25A13):c.564C>T (p.Val188=)
NM_014251.3(SLC25A13):c.567C>T (p.Thr189=) rs2116662877
NM_014251.3(SLC25A13):c.571del (p.Arg191fs) rs1482630982
NM_014251.3(SLC25A13):c.573C>T (p.Arg191=)
NM_014251.3(SLC25A13):c.580G>A (p.Val194Ile)
NM_014251.3(SLC25A13):c.582C>A (p.Val194=) rs1311802793
NM_014251.3(SLC25A13):c.582C>G (p.Val194=)
NM_014251.3(SLC25A13):c.595G>A (p.Val199Ile) rs2116662640
NM_014251.3(SLC25A13):c.597A>G (p.Val199=)
NM_014251.3(SLC25A13):c.605_608dup (p.Val204fs) rs762941850
NM_014251.3(SLC25A13):c.607_611dup (p.Val204_Ala205insTer) rs1794918929
NM_014251.3(SLC25A13):c.60A>T (p.Ile20=) rs745497684
NM_014251.3(SLC25A13):c.614C>T (p.Ala205Val) rs1562831497
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+1G>A
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.640C>T (p.Gln214Ter) rs2116656505
NM_014251.3(SLC25A13):c.654C>T (p.Ser218=) rs1794834839
NM_014251.3(SLC25A13):c.65_66insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACAATATTTTT (p.Leu22delinsPhePhePhePhePhePhePheXaaXaaXaaXaaProArgProProLysValLeuGlyLeuGlnAlaTer)
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.66_67insC (p.Lys23fs) rs1255908000
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) rs80338719
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.687del (p.Asn229fs)
NM_014251.3(SLC25A13):c.688A>G (p.Met230Val) rs767411822
NM_014251.3(SLC25A13):c.69+12G>A
NM_014251.3(SLC25A13):c.69+15A>G
NM_014251.3(SLC25A13):c.69+5G>C
NM_014251.3(SLC25A13):c.69+7A>G
NM_014251.3(SLC25A13):c.693A>G (p.Glu231=)
NM_014251.3(SLC25A13):c.70-12_72del
NM_014251.3(SLC25A13):c.70-13T>G
NM_014251.3(SLC25A13):c.70-14dup rs751240780
NM_014251.3(SLC25A13):c.70-17T>A
NM_014251.3(SLC25A13):c.70-18T>C
NM_014251.3(SLC25A13):c.70-1G>T rs962082210
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.70-7del rs751240780
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.754G>A (p.Glu252Lys) rs973986984
NM_014251.3(SLC25A13):c.755-10T>C
NM_014251.3(SLC25A13):c.755-15T>G
NM_014251.3(SLC25A13):c.755-1G>C
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.775C>T (p.Gln259Ter) rs746155190
NM_014251.3(SLC25A13):c.792del (p.Thr265fs) rs2116650029
NM_014251.3(SLC25A13):c.79A>G (p.Ile27Val) rs1798494534
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+1G>A rs761370420
NM_014251.3(SLC25A13):c.848+1del
NM_014251.3(SLC25A13):c.848+8G>A rs761126981
NM_014251.3(SLC25A13):c.848+9G>A rs201395793
NM_014251.3(SLC25A13):c.848+9G>T rs201395793
NM_014251.3(SLC25A13):c.849-6C>T
NM_014251.3(SLC25A13):c.850C>T (p.Arg284Cys)
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) rs80338720
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.881_894del (p.Ala294fs)
NM_014251.3(SLC25A13):c.885T>A (p.Pro295=)
NM_014251.3(SLC25A13):c.885T>G (p.Pro295=)
NM_014251.3(SLC25A13):c.89dup (p.Asn30fs)
NM_014251.3(SLC25A13):c.906C>A (p.Pro302=)
NM_014251.3(SLC25A13):c.919G>T (p.Glu307Ter)
NM_014251.3(SLC25A13):c.91G>A (p.Gly31Ser)
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.934-2A>T rs1794574986
NM_014251.3(SLC25A13):c.934-7A>G
NM_014251.3(SLC25A13):c.94G>T (p.Glu32Ter) rs2116939424
NM_014251.3(SLC25A13):c.957A>G (p.Arg319=)
NM_014251.3(SLC25A13):c.963T>C (p.Val321=)
NM_014251.3(SLC25A13):c.970C>T (p.Gln324Ter) rs1012084121
NM_014251.3(SLC25A13):c.977C>T (p.Ala326Val)
NM_014251.3(SLC25A13):c.978A>G (p.Ala326=) rs776848302
NM_014251.3(SLC25A13):c.979G>T (p.Glu327Ter)
NM_014251.3(SLC25A13):c.980_981del (p.Glu327fs) rs764401478
NM_014251.3(SLC25A13):c.990C>A (p.Tyr330Ter)
NM_014251.3(SLC25A13):c.990C>T (p.Tyr330=) rs534585904

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