ClinVar Miner

List of variants in gene SLC25A15 studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 405
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HGVS dbSNP gnomAD frequency
NM_014252.4(SLC25A15):c.*515A>G rs7322603 0.39342
NM_014252.4(SLC25A15):c.*353A>G rs9549293 0.39328
NM_014252.4(SLC25A15):c.*579C>T rs7321976 0.39308
NM_014252.4(SLC25A15):c.760A>T (p.Ile254Leu) rs17849654 0.34875
NM_014252.4(SLC25A15):c.*1855C>A rs9566580 0.20154
NM_014252.4(SLC25A15):c.333C>T (p.Ala111=) rs9577152 0.11997
NM_014252.4(SLC25A15):c.*2328G>T rs9577154 0.08819
NM_014252.4(SLC25A15):c.117G>A (p.Thr39=) rs41396747 0.08535
NM_014252.4(SLC25A15):c.*929G>C rs17061602 0.07878
NM_014252.4(SLC25A15):c.*684C>T rs111782657 0.07643
NM_014252.4(SLC25A15):c.*610G>T rs7320743 0.07290
NM_014252.4(SLC25A15):c.*1641G>T rs149457069 0.06406
NM_014252.4(SLC25A15):c.*1626A>G rs59670947 0.03522
NM_014252.4(SLC25A15):c.*2097T>A rs17592947 0.03453
NM_014252.4(SLC25A15):c.*48T>A rs145530626 0.03065
NM_014252.4(SLC25A15):c.*898C>T rs12585190 0.01899
NM_014252.4(SLC25A15):c.*1945G>A rs114817943 0.01135
NM_014252.4(SLC25A15):c.*1494A>G rs113342797 0.01105
NM_014252.4(SLC25A15):c.623-17A>G rs191780003 0.00905
NM_014252.4(SLC25A15):c.-67A>T rs112276566 0.00623
NM_014252.4(SLC25A15):c.*58G>T rs17090557 0.00553
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) rs34615430 0.00292
NM_014252.4(SLC25A15):c.*2040G>A rs41286983 0.00287
NM_014252.4(SLC25A15):c.*606C>G rs555003166 0.00174
NM_014252.4(SLC25A15):c.*1721C>T rs536553279 0.00173
NM_014252.4(SLC25A15):c.*420T>G rs75842883 0.00141
NM_014252.4(SLC25A15):c.*159C>G rs9577153 0.00139
NM_014252.4(SLC25A15):c.*2630C>T rs138530613 0.00138
NM_014252.4(SLC25A15):c.*1602T>G rs1003165090 0.00083
NM_014252.4(SLC25A15):c.564C>T (p.Phe188=) rs141028076 0.00077
NM_014252.4(SLC25A15):c.*2071C>T rs757326840 0.00061
NM_014252.4(SLC25A15):c.683A>T (p.Tyr228Phe) rs201625549 0.00060
NM_014252.4(SLC25A15):c.*639G>A rs192586176 0.00039
NM_014252.4(SLC25A15):c.632C>T (p.Pro211Leu) rs139034961 0.00033
NM_014252.4(SLC25A15):c.-41G>A rs375382325 0.00029
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=) rs35434090 0.00029
NM_014252.4(SLC25A15):c.55+6G>C rs200219313 0.00019
NM_014252.4(SLC25A15):c.*1595G>A rs886050245 0.00016
NM_014252.4(SLC25A15):c.*1852C>T rs189882750 0.00016
NM_014252.4(SLC25A15):c.277C>T (p.Arg93Trp) rs200014560 0.00015
NM_014252.4(SLC25A15):c.789G>A (p.Thr263=) rs144478411 0.00015
NM_014252.4(SLC25A15):c.*2190T>C rs117823875 0.00014
NM_014252.4(SLC25A15):c.*2264C>T rs544170849 0.00012
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568 0.00012
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=) rs572717478 0.00011
NM_014252.4(SLC25A15):c.330A>G (p.Ala110=) rs754666431 0.00011
NM_014252.4(SLC25A15):c.513T>C (p.His171=) rs200321784 0.00011
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln) rs369201060 0.00010
NM_014252.4(SLC25A15):c.380C>T (p.Thr127Met) rs201902280 0.00010
NM_014252.4(SLC25A15):c.861C>T (p.Tyr287=) rs148422923 0.00010
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu) rs187685447 0.00009
NM_014252.4(SLC25A15):c.378C>T (p.Pro126=) rs1331945995 0.00009
NM_014252.4(SLC25A15):c.55+17C>G rs552201985 0.00009
NM_014252.4(SLC25A15):c.729T>G (p.Ser243=) rs1007126000 0.00009
NM_014252.4(SLC25A15):c.*1562G>A rs1205190482 0.00006
NM_014252.4(SLC25A15):c.324G>A (p.Gln108=) rs756644906 0.00006
NM_014252.4(SLC25A15):c.678G>A (p.Ala226=) rs183697658 0.00006
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter) rs202247807 0.00006
NM_014252.4(SLC25A15):c.381G>A (p.Thr127=) rs543205273 0.00005
NM_014252.4(SLC25A15):c.388G>A (p.Val130Met) rs553432772 0.00005
NM_014252.4(SLC25A15):c.417G>A (p.Glu139=) rs752316567 0.00005
NM_014252.4(SLC25A15):c.535C>T (p.Arg179Ter) rs104894429 0.00005
NM_014252.4(SLC25A15):c.788C>T (p.Thr263Met) rs140242288 0.00005
NM_014252.4(SLC25A15):c.*1982A>C rs886050247 0.00004
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=) rs536354947 0.00004
NM_014252.4(SLC25A15):c.334G>A (p.Ala112Thr) rs747998866 0.00004
NM_014252.4(SLC25A15):c.576A>G (p.Glu192=) rs774514708 0.00004
NM_014252.4(SLC25A15):c.751A>G (p.Arg251Gly) rs746683247 0.00004
NM_014252.4(SLC25A15):c.782-18C>T rs183166413 0.00004
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile) rs121908535 0.00004
NM_014252.4(SLC25A15):c.*217G>A rs886050241 0.00003
NM_014252.4(SLC25A15):c.*2373T>C rs886050249 0.00003
NM_014252.4(SLC25A15):c.*871T>C rs767132355 0.00003
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser) rs199894905 0.00003
NM_014252.4(SLC25A15):c.453-8C>T rs368094314 0.00003
NM_014252.4(SLC25A15):c.677C>T (p.Ala226Val) rs776523157 0.00003
NM_014252.4(SLC25A15):c.*2272G>A rs865875322 0.00002
NM_014252.4(SLC25A15):c.*640C>T rs763688411 0.00002
NM_014252.4(SLC25A15):c.*738C>T rs1424783770 0.00002
NM_014252.4(SLC25A15):c.*990T>C rs183698412 0.00002
NM_014252.4(SLC25A15):c.133C>T (p.Arg45Trp) rs540292884 0.00002
NM_014252.4(SLC25A15):c.144C>T (p.Thr48=) rs376634191 0.00002
NM_014252.4(SLC25A15):c.181C>T (p.Arg61Cys) rs552342390 0.00002
NM_014252.4(SLC25A15):c.217G>A (p.Ala73Thr) rs531611390 0.00002
NM_014252.4(SLC25A15):c.314+10G>A rs538900917 0.00002
NM_014252.4(SLC25A15):c.336C>T (p.Ala112=) rs371187770 0.00002
NM_014252.4(SLC25A15):c.397C>T (p.Arg133Trp) rs573469049 0.00002
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys) rs104894424 0.00002
NM_014252.4(SLC25A15):c.567T>C (p.Gly189=) rs1266409173 0.00002
NM_014252.4(SLC25A15):c.581G>A (p.Ser194Asn) rs746179010 0.00002
NM_014252.4(SLC25A15):c.756C>T (p.Thr252=) rs11618618 0.00002
NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg) rs104894430 0.00002
NM_014252.4(SLC25A15):c.862G>A (p.Glu288Lys) rs751176510 0.00002
NM_014252.4(SLC25A15):c.*1026G>A rs1399636214 0.00001
NM_014252.4(SLC25A15):c.*1203G>A rs1396590702 0.00001
NM_014252.4(SLC25A15):c.*1319G>C rs886050242 0.00001
NM_014252.4(SLC25A15):c.*1345G>C rs886050243 0.00001
NM_014252.4(SLC25A15):c.*1682C>T rs557871939 0.00001
NM_014252.4(SLC25A15):c.*1754A>G rs1882445253 0.00001
NM_014252.4(SLC25A15):c.*2105A>T rs886050248 0.00001
NM_014252.4(SLC25A15):c.*2332T>C rs551340341 0.00001
NM_014252.4(SLC25A15):c.*2494G>A rs886050250 0.00001
NM_014252.4(SLC25A15):c.*2498A>G rs1427156330 0.00001
NM_014252.4(SLC25A15):c.*333A>T rs1282966714 0.00001
NM_014252.4(SLC25A15):c.134G>A (p.Arg45Gln) rs201647638 0.00001
NM_014252.4(SLC25A15):c.175G>A (p.Gly59Ser) rs1206371362 0.00001
NM_014252.4(SLC25A15):c.177C>A (p.Gly59=) rs1057519112 0.00001
NM_014252.4(SLC25A15):c.18T>C (p.Ala6=) rs573033866 0.00001
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=) rs765380976 0.00001
NM_014252.4(SLC25A15):c.22C>T (p.Gln8Ter) rs1448259297 0.00001
NM_014252.4(SLC25A15):c.282A>G (p.Lys94=) rs761843636 0.00001
NM_014252.4(SLC25A15):c.292T>A (p.Leu98Met) rs752943501 0.00001
NM_014252.4(SLC25A15):c.346G>A (p.Ala116Thr) rs770726226 0.00001
NM_014252.4(SLC25A15):c.372C>G (p.Leu124=) rs1305315510 0.00001
NM_014252.4(SLC25A15):c.400C>T (p.Leu134=) rs1882124544 0.00001
NM_014252.4(SLC25A15):c.402G>A (p.Leu134=) rs1593294212 0.00001
NM_014252.4(SLC25A15):c.44C>T (p.Ala15Val) rs202247806 0.00001
NM_014252.4(SLC25A15):c.452+11C>G rs780976780 0.00001
NM_014252.4(SLC25A15):c.453-10C>G rs745823100 0.00001
NM_014252.4(SLC25A15):c.453-5C>T rs748169316 0.00001
NM_014252.4(SLC25A15):c.521C>A (p.Ser174Ter) rs200873328 0.00001
NM_014252.4(SLC25A15):c.55+8C>A rs1280804783 0.00001
NM_014252.4(SLC25A15):c.555C>T (p.Phe185=) rs1489139087 0.00001
NM_014252.4(SLC25A15):c.64G>A (p.Ala22Thr) rs772586133 0.00001
NM_014252.4(SLC25A15):c.688G>A (p.Val230Met) rs1185937987 0.00001
NM_014252.4(SLC25A15):c.701A>T (p.Lys234Ile) rs780409673 0.00001
NM_014252.4(SLC25A15):c.744A>G (p.Gly248=) rs1372683295 0.00001
NM_014252.4(SLC25A15):c.781+9A>G rs1353571695 0.00001
NM_014252.4(SLC25A15):c.782-17G>A rs375356896 0.00001
NM_014252.4(SLC25A15):c.78C>T (p.Thr26=) rs1450925149 0.00001
NM_014252.4(SLC25A15):c.805C>T (p.Leu269=) rs1397426904 0.00001
NM_014252.4(SLC25A15):c.81G>A (p.Gly27=) rs1395458736 0.00001
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln) rs104894431 0.00001
NM_014252.4(SLC25A15):c.846A>G (p.Ala282=) rs751245001 0.00001
NM_014252.4(SLC25A15):c.850T>C (p.Phe284Leu) rs1376001064 0.00001
NM_014252.4(SLC25A15):c.864A>G (p.Glu288=) rs756808391 0.00001
NM_014252.4(SLC25A15):c.873G>A (p.Arg291=) rs769268831 0.00001
NC_000013.10:g.(?_41363746)_(41386597_?)del
NC_000013.10:g.(?_41367353)_(41367427_?)del
NC_000013.10:g.(?_41367363)_(41383803_?)del
NC_000013.10:g.(?_41367363)_(41383803_?)dup
NC_000013.10:g.(?_41379234)_(41383803_?)del
NC_000013.10:g.(?_41379234)_(41383823_?)del
NC_000013.10:g.(?_41381410)_(41381619_?)del
NM_014252.4(SLC25A15):c.*1485T>A rs886050244
NM_014252.4(SLC25A15):c.*1737G>A rs574269155
NM_014252.4(SLC25A15):c.*1788C>T rs1882447087
NM_014252.4(SLC25A15):c.*1801G>A rs536912632
NM_014252.4(SLC25A15):c.*1829AAAAG[2] rs201178711
NM_014252.4(SLC25A15):c.*189A>C rs147308374
NM_014252.4(SLC25A15):c.*1974A>G rs1882457845
NM_014252.4(SLC25A15):c.*2279G>C rs962015601
NM_014252.4(SLC25A15):c.*2438G>A rs181523869
NM_014252.4(SLC25A15):c.*2451T>C rs1882481102
NM_014252.4(SLC25A15):c.*2563G>T rs574652330
NM_014252.4(SLC25A15):c.*2631G>A rs1882489563
NM_014252.4(SLC25A15):c.*2771A>G rs1882495767
NM_014252.4(SLC25A15):c.*490T>G rs1393402824
NM_014252.4(SLC25A15):c.*548G>A rs1882388715
NM_014252.4(SLC25A15):c.*748G>A rs1593297068
NM_014252.4(SLC25A15):c.-69-41_55+58del
NM_014252.4(SLC25A15):c.105G>T (p.Val35=) rs1206882399
NM_014252.4(SLC25A15):c.107del (p.Lys36fs)
NM_014252.4(SLC25A15):c.110T>G (p.Met37Arg) rs121908533
NM_014252.4(SLC25A15):c.112C>T (p.Gln38Ter)
NM_014252.4(SLC25A15):c.113_116dup (p.Phe40fs) rs756522093
NM_014252.4(SLC25A15):c.11A>G (p.Asn4Ser)
NM_014252.4(SLC25A15):c.120C>T (p.Phe40=)
NM_014252.4(SLC25A15):c.123T>C (p.Pro41=)
NM_014252.4(SLC25A15):c.129G>A (p.Leu43=) rs1881776190
NM_014252.4(SLC25A15):c.132C>T (p.Tyr44=) rs2138045756
NM_014252.4(SLC25A15):c.135G>A (p.Arg45=) rs2138045768
NM_014252.4(SLC25A15):c.138C>A (p.Gly46=) rs560300254
NM_014252.4(SLC25A15):c.138C>T (p.Gly46=) rs560300254
NM_014252.4(SLC25A15):c.145G>A (p.Asp49Asn) rs539373322
NM_014252.4(SLC25A15):c.154C>T (p.Leu52=)
NM_014252.4(SLC25A15):c.156G>A (p.Leu52=)
NM_014252.4(SLC25A15):c.158A>G (p.Lys53Arg) rs746560103
NM_014252.4(SLC25A15):c.169C>T (p.Gln57Ter)
NM_014252.4(SLC25A15):c.16G>C (p.Ala6Pro)
NM_014252.4(SLC25A15):c.172G>A (p.Val58Met)
NM_014252.4(SLC25A15):c.172del (p.Val58fs)
NM_014252.4(SLC25A15):c.182G>C (p.Arg61Pro) rs34615430
NM_014252.4(SLC25A15):c.191A>T (p.Tyr64Phe)
NM_014252.4(SLC25A15):c.192C>T (p.Tyr64=) rs1008259618
NM_014252.4(SLC25A15):c.1A>G (p.Met1Val)
NM_014252.4(SLC25A15):c.201C>A (p.Thr67=)
NM_014252.4(SLC25A15):c.207A>G (p.Pro69=)
NM_014252.4(SLC25A15):c.208_209delinsTT (p.Ala70Leu) rs1064793683
NM_014252.4(SLC25A15):c.212T>A (p.Leu71Gln) rs121908534
NM_014252.4(SLC25A15):c.213A>G (p.Leu71=)
NM_014252.4(SLC25A15):c.216C>A (p.Ile72=) rs572717478
NM_014252.4(SLC25A15):c.217G>T (p.Ala73Ser)
NM_014252.4(SLC25A15):c.21C>T (p.Ile7=) rs1360586910
NM_014252.4(SLC25A15):c.225C>A (p.Ile75=)
NM_014252.4(SLC25A15):c.228T>C (p.Ala76=) rs1881786415
NM_014252.4(SLC25A15):c.231G>A (p.Glu77=)
NM_014252.4(SLC25A15):c.236C>G (p.Ser79Ter) rs2138045987
NM_014252.4(SLC25A15):c.237A>C (p.Ser79=)
NM_014252.4(SLC25A15):c.237A>G (p.Ser79=) rs2138045991
NM_014252.4(SLC25A15):c.243C>T (p.Leu81=) rs1355172390
NM_014252.4(SLC25A15):c.246C>T (p.Phe82=) rs2138046007
NM_014252.4(SLC25A15):c.248T>C (p.Met83Thr)
NM_014252.4(SLC25A15):c.249G>A (p.Met83Ile) rs765128094
NM_014252.4(SLC25A15):c.258C>T (p.Gly86=)
NM_014252.4(SLC25A15):c.264C>T (p.Cys88=) rs2138046037
NM_014252.4(SLC25A15):c.265C>T (p.Gln89Ter)
NM_014252.4(SLC25A15):c.274del (p.Val92fs)
NM_014252.4(SLC25A15):c.286G>T (p.Ala96Ser)
NM_014252.4(SLC25A15):c.292T>C (p.Leu98=)
NM_014252.4(SLC25A15):c.294G>A (p.Leu98=)
NM_014252.4(SLC25A15):c.300G>A (p.Lys100=)
NM_014252.4(SLC25A15):c.303G>A (p.Gln101=)
NM_014252.4(SLC25A15):c.309_310delinsAT (p.Lys103_Leu104=) rs2138046122
NM_014252.4(SLC25A15):c.310C>T (p.Leu104=)
NM_014252.4(SLC25A15):c.314+12AC[3]
NM_014252.4(SLC25A15):c.314+17C>A rs1333416722
NM_014252.4(SLC25A15):c.314+18A>G
NM_014252.4(SLC25A15):c.314+19C>T
NM_014252.4(SLC25A15):c.314+19_314+20del
NM_014252.4(SLC25A15):c.314+24_314+26del rs754389895
NM_014252.4(SLC25A15):c.315-12G>A
NM_014252.4(SLC25A15):c.315-12G>C
NM_014252.4(SLC25A15):c.315-12G>T
NM_014252.4(SLC25A15):c.315-14T>G
NM_014252.4(SLC25A15):c.315-17dup
NM_014252.4(SLC25A15):c.315-1G>A rs2138053997
NM_014252.4(SLC25A15):c.315-20G>C
NM_014252.4(SLC25A15):c.315-2A>C
NM_014252.4(SLC25A15):c.315-7C>T rs2138053984
NM_014252.4(SLC25A15):c.315-8G>A
NM_014252.4(SLC25A15):c.31_55del (p.Ile11fs)
NM_014252.4(SLC25A15):c.321G>A (p.Leu107=) rs750924937
NM_014252.4(SLC25A15):c.321G>T (p.Leu107=)
NM_014252.4(SLC25A15):c.326_452+374del
NM_014252.4(SLC25A15):c.326del (p.Asn109fs)
NM_014252.4(SLC25A15):c.32T>C (p.Ile11Thr) rs1279446692
NM_014252.4(SLC25A15):c.331_335del (p.Ala111fs)
NM_014252.4(SLC25A15):c.337G>T (p.Gly113Cys) rs199894905
NM_014252.4(SLC25A15):c.338G>T (p.Gly113Val) rs2138054088
NM_014252.4(SLC25A15):c.339T>A (p.Gly113=)
NM_014252.4(SLC25A15):c.343T>G (p.Phe115Val) rs886050240
NM_014252.4(SLC25A15):c.354C>A (p.Ala118=)
NM_014252.4(SLC25A15):c.354C>T (p.Ala118=) rs775654159
NM_014252.4(SLC25A15):c.355_376del (p.Phe119fs)
NM_014252.4(SLC25A15):c.357del (p.Phe119fs)
NM_014252.4(SLC25A15):c.363A>C (p.Ala121=)
NM_014252.4(SLC25A15):c.363A>G (p.Ala121=) rs1882121523
NM_014252.4(SLC25A15):c.364C>G (p.Leu122Val) rs1438281063
NM_014252.4(SLC25A15):c.364C>T (p.Leu122=)
NM_014252.4(SLC25A15):c.372C>T (p.Leu124=) rs1305315510
NM_014252.4(SLC25A15):c.375C>T (p.Cys125=) rs1882122356
NM_014252.4(SLC25A15):c.387C>G (p.Leu129=)
NM_014252.4(SLC25A15):c.387C>T (p.Leu129=) rs151093794
NM_014252.4(SLC25A15):c.391A>C (p.Lys131Gln)
NM_014252.4(SLC25A15):c.391A>T (p.Lys131Ter)
NM_014252.4(SLC25A15):c.391_395del (p.Lys131fs)
NM_014252.4(SLC25A15):c.393G>A (p.Lys131=)
NM_014252.4(SLC25A15):c.403C>T (p.Gln135Ter)
NM_014252.4(SLC25A15):c.408del (p.Met137fs) rs780201405
NM_014252.4(SLC25A15):c.411G>T (p.Met137Ile) rs1882125551
NM_014252.4(SLC25A15):c.423G>A (p.Glu141=)
NM_014252.4(SLC25A15):c.429_430del (p.Gly144fs)
NM_014252.4(SLC25A15):c.42A>C (p.Thr14=)
NM_014252.4(SLC25A15):c.443A>T (p.Lys148Met)
NM_014252.4(SLC25A15):c.446del (p.Ser149fs) rs1566123619
NM_014252.4(SLC25A15):c.452+19C>T
NM_014252.4(SLC25A15):c.452+1del
NM_014252.4(SLC25A15):c.452+2T>C rs1882127556
NM_014252.4(SLC25A15):c.452+7A>G rs2138054291
NM_014252.4(SLC25A15):c.452+9C>T
NM_014252.4(SLC25A15):c.453-12_453-11del
NM_014252.4(SLC25A15):c.453-14G>C
NM_014252.4(SLC25A15):c.453-16C>T
NM_014252.4(SLC25A15):c.453-19T>C
NM_014252.4(SLC25A15):c.453-2A>C
NM_014252.4(SLC25A15):c.453-7C>T rs2138056608
NM_014252.4(SLC25A15):c.45G>A (p.Ala15=) rs200958757
NM_014252.4(SLC25A15):c.47G>A (p.Gly16Glu) rs2138039633
NM_014252.4(SLC25A15):c.489A>G (p.Lys163=)
NM_014252.4(SLC25A15):c.494_495insGGTTCTA (p.Pro166fs) rs2138056681
NM_014252.4(SLC25A15):c.495C>A (p.Gly165=) rs2138056684
NM_014252.4(SLC25A15):c.498del (p.Leu167fs) rs2138056689
NM_014252.4(SLC25A15):c.504G>T (p.Gly168=) rs770229041
NM_014252.4(SLC25A15):c.506T>C (p.Phe169Ser) rs796052041
NM_014252.4(SLC25A15):c.507C>T (p.Phe169=)
NM_014252.4(SLC25A15):c.50C>G (p.Ala17Gly)
NM_014252.4(SLC25A15):c.512A>G (p.His171Arg)
NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter) rs1480063127
NM_014252.4(SLC25A15):c.519C>T (p.Leu173=)
NM_014252.4(SLC25A15):c.525dup (p.Thr176fs)
NM_014252.4(SLC25A15):c.530T>A (p.Leu177Ter)
NM_014252.4(SLC25A15):c.530T>C (p.Leu177Ser) rs2138056755
NM_014252.4(SLC25A15):c.536G>T (p.Arg179Leu) rs1172814707
NM_014252.4(SLC25A15):c.541G>C (p.Val181Leu)
NM_014252.4(SLC25A15):c.55+11G>C
NM_014252.4(SLC25A15):c.55+12T>C rs575712830
NM_014252.4(SLC25A15):c.55+15C>T
NM_014252.4(SLC25A15):c.55+17C>T
NM_014252.4(SLC25A15):c.55+18A>C
NM_014252.4(SLC25A15):c.55+6_55+9dup rs2138039659
NM_014252.4(SLC25A15):c.55+8C>T rs1280804783
NM_014252.4(SLC25A15):c.552T>C (p.Tyr184=) rs374352017
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del) rs202247803
NM_014252.4(SLC25A15):c.554T>C (p.Phe185Ser)
NM_014252.4(SLC25A15):c.554_557del (p.Phe185fs) rs1882233400
NM_014252.4(SLC25A15):c.558C>T (p.Phe186=)
NM_014252.4(SLC25A15):c.56-13G>T
NM_014252.4(SLC25A15):c.56-15_56-14del
NM_014252.4(SLC25A15):c.56-16T>C
NM_014252.4(SLC25A15):c.56-17A>G
NM_014252.4(SLC25A15):c.56-1G>A
NM_014252.4(SLC25A15):c.56-6T>C
NM_014252.4(SLC25A15):c.56-8G>A rs2138045584
NM_014252.4(SLC25A15):c.56-9T>C
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu) rs141028076
NM_014252.4(SLC25A15):c.565G>A (p.Gly189Ser) rs151239794
NM_014252.4(SLC25A15):c.569G>A (p.Gly190Asp) rs202247804
NM_014252.4(SLC25A15):c.56G>C (p.Gly19Ala)
NM_014252.4(SLC25A15):c.570del (p.Tyr191fs) rs2138056832
NM_014252.4(SLC25A15):c.579G>C (p.Leu193=) rs2138056841
NM_014252.4(SLC25A15):c.584G>A (p.Arg195Gln)
NM_014252.4(SLC25A15):c.585G>A (p.Arg195=)
NM_014252.4(SLC25A15):c.588C>T (p.Ser196=) rs2138056870
NM_014252.4(SLC25A15):c.594dup (p.Ala199fs)
NM_014252.4(SLC25A15):c.597A>G (p.Ala199=) rs1001813690
NM_014252.4(SLC25A15):c.59del (p.Gly20fs) rs1566121215
NM_014252.4(SLC25A15):c.622+1G>A rs957788324
NM_014252.4(SLC25A15):c.622+20C>T
NM_014252.4(SLC25A15):c.622+24_622+25insCATTTGCATTGACAGCA
NM_014252.4(SLC25A15):c.622+9G>A rs2138056932
NM_014252.4(SLC25A15):c.623-13T>C
NM_014252.4(SLC25A15):c.623-16T>C
NM_014252.4(SLC25A15):c.623-17A>T rs191780003
NM_014252.4(SLC25A15):c.623-18_623-17insG rs1212518673
NM_014252.4(SLC25A15):c.623-1G>A
NM_014252.4(SLC25A15):c.623-5T>C
NM_014252.4(SLC25A15):c.623-5del
NM_014252.4(SLC25A15):c.623-7del
NM_014252.4(SLC25A15):c.623-7dup rs150927352
NM_014252.4(SLC25A15):c.623-9T>C
NM_014252.4(SLC25A15):c.624C>A (p.Gly208=)
NM_014252.4(SLC25A15):c.624C>T (p.Gly208=)
NM_014252.4(SLC25A15):c.627T>C (p.Pro209=) rs1882286895
NM_014252.4(SLC25A15):c.631C>T (p.Pro211Ser)
NM_014252.4(SLC25A15):c.633T>G (p.Pro211=)
NM_014252.4(SLC25A15):c.639_640del (p.Met213fs) rs2138057963
NM_014252.4(SLC25A15):c.646G>A (p.Gly216Ser) rs1417167600
NM_014252.4(SLC25A15):c.657T>A (p.Gly219=)
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg) rs202247805
NM_014252.4(SLC25A15):c.669del (p.Trp224fs)
NM_014252.4(SLC25A15):c.672G>A (p.Trp224Ter) rs1593295876
NM_014252.4(SLC25A15):c.678G>C (p.Ala226=) rs183697658
NM_014252.4(SLC25A15):c.681A>G (p.Val227=) rs767671614
NM_014252.4(SLC25A15):c.693T>C (p.Asp231=)
NM_014252.4(SLC25A15):c.699C>T (p.Ile233=)
NM_014252.4(SLC25A15):c.69T>C (p.Cys23=) rs2138045632
NM_014252.4(SLC25A15):c.70G>A (p.Val24Ile)
NM_014252.4(SLC25A15):c.714A>G (p.Gln238=)
NM_014252.4(SLC25A15):c.715G>A (p.Val239Ile)
NM_014252.4(SLC25A15):c.723C>T (p.Ser241=)
NM_014252.4(SLC25A15):c.727_730dup (p.Gly244fs)
NM_014252.4(SLC25A15):c.72A>T (p.Val24=) rs1392943139
NM_014252.4(SLC25A15):c.731G>T (p.Gly244Val) rs747658091
NM_014252.4(SLC25A15):c.73C>T (p.Leu25=)
NM_014252.4(SLC25A15):c.755_756insA (p.Phe253fs)
NM_014252.4(SLC25A15):c.75G>C (p.Leu25=) rs2138045646
NM_014252.4(SLC25A15):c.760A>C (p.Ile254Leu) rs17849654
NM_014252.4(SLC25A15):c.76del (p.Thr26fs) rs2138045649
NM_014252.4(SLC25A15):c.776dup (p.Asn259fs)
NM_014252.4(SLC25A15):c.778G>T (p.Glu260Ter) rs1882296594
NM_014252.4(SLC25A15):c.781+12C>T
NM_014252.4(SLC25A15):c.781+15G>A
NM_014252.4(SLC25A15):c.781+1G>A
NM_014252.4(SLC25A15):c.781+2T>A
NM_014252.4(SLC25A15):c.781+9dup rs2138058178
NM_014252.4(SLC25A15):c.782-10T>G rs2138059526
NM_014252.4(SLC25A15):c.782-18C>G
NM_014252.4(SLC25A15):c.782-19C>T
NM_014252.4(SLC25A15):c.782-20A>G
NM_014252.4(SLC25A15):c.782-2A>G
NM_014252.4(SLC25A15):c.782-6del
NM_014252.4(SLC25A15):c.789G>T (p.Thr263=) rs144478411
NM_014252.4(SLC25A15):c.792C>G (p.Ala264=) rs768406331
NM_014252.4(SLC25A15):c.800C>G (p.Ser267Cys)
NM_014252.4(SLC25A15):c.804A>G (p.Gly268=) rs2138059571
NM_014252.4(SLC25A15):c.818T>A (p.Met273Lys) rs202247808
NM_014252.4(SLC25A15):c.831C>T (p.Phe277=) rs2138059638
NM_014252.4(SLC25A15):c.843A>T (p.Gly281=) rs199850093
NM_014252.4(SLC25A15):c.847C>T (p.Leu283Phe) rs202247809
NM_014252.4(SLC25A15):c.854T>C (p.Leu285Ser) rs1882361798
NM_014252.4(SLC25A15):c.855G>A (p.Leu285=)
NM_014252.4(SLC25A15):c.862dup (p.Glu288fs)
NM_014252.4(SLC25A15):c.866A>G (p.Tyr289Cys)
NM_014252.4(SLC25A15):c.883A>G (p.Met295Val)
NM_014252.4(SLC25A15):c.888C>T (p.Asn296=) rs2138059719
NM_014252.4(SLC25A15):c.891G>A (p.Gln297=)
NM_014252.4(SLC25A15):c.900A>T (p.Ala300=)
NM_014252.4(SLC25A15):c.905G>A (p.Ter302=) rs2138059746
NM_014252.4(SLC25A15):c.93C>T (p.Asp31=)
NM_014252.4(SLC25A15):c.95C>G (p.Thr32Arg) rs121908536
NM_014252.4(SLC25A15):c.95C>T (p.Thr32Ile)
NM_014252.4(SLC25A15):c.95_96dup (p.Met33fs)
NM_014252.4(SLC25A15):c.97del (p.Thr32_Met33insTer)
NM_014252.4(SLC25A15):c.98_101del (p.Met33fs)

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