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.2T>C (p.Met1Thr)
|
rs541276426
|
0.00041
|
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.6G>T (p.Ala2=)
|
rs774562949
|
0.00007
|
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.15+1G>A
|
rs748094224
|
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.12C>T (p.Ala4=)
|
rs961482670
|
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.15+5C>T
|
rs907269562
|
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.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
|
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|
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=)
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|
|
NM_014251.3(SLC25A13):c.1056A>G (p.Val352=)
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|
|
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=)
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|
|
NM_014251.3(SLC25A13):c.1084A>G (p.Thr362Ala)
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|
|
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)
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|
|
NM_014251.3(SLC25A13):c.111C>T (p.Pro37=)
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|
|
NM_014251.3(SLC25A13):c.111del (p.Asn38fs)
|
rs2116939333
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NM_014251.3(SLC25A13):c.1143G>A (p.Val381=)
|
rs2116629012
|
|
NM_014251.3(SLC25A13):c.1151A>T (p.Tyr384Phe)
|
rs1197228945
|
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NM_014251.3(SLC25A13):c.1158C>G (p.Gly386=)
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|
|
NM_014251.3(SLC25A13):c.1164del (p.Phe388fs)
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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
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|
NM_014251.3(SLC25A13):c.1177+17C>G
|
|
|
NM_014251.3(SLC25A13):c.1177+17C>T
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|
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=)
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|
|
NM_014251.3(SLC25A13):c.1193del (p.Leu398fs)
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|
NM_014251.3(SLC25A13):c.1195T>C (p.Leu399=)
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|
|
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
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|
NM_014251.3(SLC25A13):c.1231-20T>A
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|
NM_014251.3(SLC25A13):c.1245G>A (p.Val415=)
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|
NM_014251.3(SLC25A13):c.1248G>A (p.Arg416=)
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|
NM_014251.3(SLC25A13):c.124del (p.Thr42fs)
|
rs2116939236
|
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NM_014251.3(SLC25A13):c.1251T>C (p.Asp417=)
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|
|
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)
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|
|
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
|
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NM_014251.3(SLC25A13):c.129A>T (p.Arg43=)
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|
|
NM_014251.3(SLC25A13):c.1307G>A (p.Gly436Asp)
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|
NM_014251.3(SLC25A13):c.1311+1G>C
|
|
|
NM_014251.3(SLC25A13):c.1311+8C>T
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|
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NM_014251.3(SLC25A13):c.1311+9C>T
|
rs2116576668
|
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NM_014251.3(SLC25A13):c.1311C>A (p.Cys437Ter)
|
rs879255502
|
|
NM_014251.3(SLC25A13):c.1312-12del
|
rs771217878
|
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NM_014251.3(SLC25A13):c.1312-13T>C
|
|
|
NM_014251.3(SLC25A13):c.1316G>A (p.Gly439Glu)
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|
|
NM_014251.3(SLC25A13):c.1324C>T (p.Gln442Ter)
|
rs2116482158
|
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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
|
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NM_014251.3(SLC25A13):c.1362C>A (p.Ile454=)
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|
|
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)
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|
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NM_014251.3(SLC25A13):c.1410T>G (p.Ala470=)
|
rs2116481670
|
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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.15+15G>C
|
|
|
NM_014251.3(SLC25A13):c.15+2T>C
|
|
|
NM_014251.3(SLC25A13):c.15+7G>A
|
|
|
NM_014251.3(SLC25A13):c.15+8C>T
|
|
|
NM_014251.3(SLC25A13):c.15+9G>A
|
rs1044447024
|
|
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.15G>A (p.Lys5=)
|
rs80338715
|
|
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
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NM_014251.3(SLC25A13):c.754+16T>G
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NM_014251.3(SLC25A13):c.754+17C>T
|
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NM_014251.3(SLC25A13):c.754+8A>C
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NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)
|
rs973986984
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NM_014251.3(SLC25A13):c.755-10T>C
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NM_014251.3(SLC25A13):c.755-15T>G
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NM_014251.3(SLC25A13):c.755-1G>C
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NM_014251.3(SLC25A13):c.755-24_755-3del
|
rs746604745
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NM_014251.3(SLC25A13):c.755-5T>C
|
rs2116650285
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NM_014251.3(SLC25A13):c.755-7C>G
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NM_014251.3(SLC25A13):c.765T>C (p.Val255=)
|
rs2116650187
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NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter)
|
rs746155190
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NM_014251.3(SLC25A13):c.792del (p.Thr265fs)
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rs2116650029
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NM_014251.3(SLC25A13):c.79A>G (p.Ile27Val)
|
rs1798494534
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NM_014251.3(SLC25A13):c.807T>G (p.Val269=)
|
rs934024804
|
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NM_014251.3(SLC25A13):c.816G>A (p.Leu272=)
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NM_014251.3(SLC25A13):c.81T>C (p.Ile27=)
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NM_014251.3(SLC25A13):c.848+10C>G
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NM_014251.3(SLC25A13):c.848+12T>C
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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
|
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NM_014251.3(SLC25A13):c.849-6C>T
|
|
|
NM_014251.3(SLC25A13):c.850C>T (p.Arg284Cys)
|
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|
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
|
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NM_014251.3(SLC25A13):c.874C>A (p.Arg292=)
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|
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NM_014251.3(SLC25A13):c.876G>T (p.Arg292=)
|
rs1794755283
|
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NM_014251.3(SLC25A13):c.881_894del (p.Ala294fs)
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NM_014251.3(SLC25A13):c.885T>A (p.Pro295=)
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NM_014251.3(SLC25A13):c.885T>G (p.Pro295=)
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|
NM_014251.3(SLC25A13):c.89dup (p.Asn30fs)
|
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|
NM_014251.3(SLC25A13):c.906C>A (p.Pro302=)
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|
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
|
|
NM_014251.3(SLC25A13):c.9C>T (p.Ala3=)
|
rs771172427
|
|