NM_138773.4(SLC25A46):c.714G>A (p.Glu238=)
|
rs7724788
|
0.18468
|
NM_138773.4(SLC25A46):c.346T>C (p.Leu116=)
|
rs17446534
|
0.06929
|
NM_138773.4(SLC25A46):c.384+12T>G
|
rs7736017
|
0.03764
|
NM_138773.4(SLC25A46):c.1137G>T (p.Glu379Asp)
|
rs79149180
|
0.03322
|
NM_138773.4(SLC25A46):c.429C>T (p.Val143=)
|
rs35220834
|
0.03257
|
NM_138773.4(SLC25A46):c.147C>T (p.Ile49=)
|
rs145421520
|
0.02520
|
NM_138773.4(SLC25A46):c.563+6A>T
|
rs114546039
|
0.01313
|
NM_138773.4(SLC25A46):c.378A>G (p.Gln126=)
|
rs151055603
|
0.00430
|
NM_138773.4(SLC25A46):c.52G>T (p.Ala18Ser)
|
rs191332512
|
0.00357
|
NM_138773.4(SLC25A46):c.631G>A (p.Val211Met)
|
rs114859074
|
0.00257
|
NM_138773.4(SLC25A46):c.563+19C>T
|
rs114954533
|
0.00203
|
NM_138773.4(SLC25A46):c.767A>G (p.Lys256Arg)
|
rs141213807
|
0.00193
|
NM_138773.4(SLC25A46):c.742A>C (p.Ile248Leu)
|
rs149585060
|
0.00191
|
NM_138773.4(SLC25A46):c.278G>A (p.Ser93Asn)
|
rs73230112
|
0.00170
|
NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys)
|
rs200566665
|
0.00086
|
NM_138773.4(SLC25A46):c.385-18G>A
|
rs200817507
|
0.00065
|
NM_138773.4(SLC25A46):c.678+17del
|
rs371101588
|
0.00059
|
NM_138773.4(SLC25A46):c.148C>A (p.Pro50Thr)
|
rs147648476
|
0.00056
|
NM_138773.4(SLC25A46):c.416C>A (p.Thr139Asn)
|
rs202123515
|
0.00048
|
NM_138773.4(SLC25A46):c.326+13C>T
|
rs368429622
|
0.00039
|
NM_138773.4(SLC25A46):c.733G>A (p.Gly245Arg)
|
rs143029135
|
0.00021
|
NM_138773.4(SLC25A46):c.630C>T (p.Tyr210=)
|
rs201039547
|
0.00017
|
NM_138773.4(SLC25A46):c.1063C>G (p.Leu355Val)
|
rs139534651
|
0.00013
|
NM_138773.4(SLC25A46):c.283+10A>G
|
rs763772509
|
0.00013
|
NM_138773.4(SLC25A46):c.326+15A>G
|
rs372028597
|
0.00013
|
NM_138773.4(SLC25A46):c.385-4A>G
|
rs377289513
|
0.00009
|
NM_138773.4(SLC25A46):c.276G>C (p.Gln92His)
|
rs776022965
|
0.00008
|
NM_138773.4(SLC25A46):c.265G>C (p.Val89Leu)
|
rs777269362
|
0.00007
|
NM_138773.4(SLC25A46):c.273G>T (p.Gly91=)
|
rs770228533
|
0.00005
|
NM_138773.4(SLC25A46):c.144T>C (p.Asp48=)
|
rs139629514
|
0.00004
|
NM_138773.4(SLC25A46):c.203C>T (p.Thr68Ile)
|
rs763466158
|
0.00004
|
NM_138773.4(SLC25A46):c.326+6G>A
|
rs1376332022
|
0.00004
|
NM_138773.4(SLC25A46):c.679-9T>G
|
rs184715255
|
0.00004
|
NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys)
|
rs746681765
|
0.00003
|
NM_138773.4(SLC25A46):c.1176T>G (p.Val392=)
|
rs140617247
|
0.00003
|
NM_138773.4(SLC25A46):c.219C>T (p.Tyr73=)
|
rs755840361
|
0.00003
|
NM_138773.4(SLC25A46):c.314T>C (p.Ile105Thr)
|
rs375056013
|
0.00003
|
NM_138773.4(SLC25A46):c.410A>G (p.His137Arg)
|
rs754427464
|
0.00003
|
NM_138773.4(SLC25A46):c.458C>A (p.Thr153Asn)
|
rs775286893
|
0.00003
|
NM_138773.4(SLC25A46):c.598G>A (p.Gly200Arg)
|
rs767725140
|
0.00003
|
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp)
|
rs200725073
|
0.00003
|
NM_138773.4(SLC25A46):c.776T>G (p.Leu259Arg)
|
rs150754737
|
0.00003
|
NM_138773.4(SLC25A46):c.780G>A (p.Pro260=)
|
rs766154121
|
0.00003
|
NM_138773.4(SLC25A46):c.168C>T (p.His56=)
|
rs140606969
|
0.00002
|
NM_138773.4(SLC25A46):c.169T>C (p.Trp57Arg)
|
rs761045034
|
0.00002
|
NM_138773.4(SLC25A46):c.210C>T (p.Ser70=)
|
rs1438784180
|
0.00002
|
NM_138773.4(SLC25A46):c.370C>T (p.Arg124Cys)
|
rs750732884
|
0.00002
|
NM_138773.4(SLC25A46):c.558G>A (p.Leu186=)
|
rs200143217
|
0.00002
|
NM_138773.4(SLC25A46):c.678+15dup
|
rs762000801
|
0.00002
|
NM_138773.4(SLC25A46):c.849G>C (p.Gln283His)
|
rs772739765
|
0.00002
|
NM_138773.4(SLC25A46):c.908C>A (p.Thr303Asn)
|
rs754372484
|
0.00002
|
NM_138773.4(SLC25A46):c.977G>T (p.Cys326Phe)
|
rs762881271
|
0.00002
|
NM_138773.4(SLC25A46):c.985G>A (p.Val329Ile)
|
rs750717175
|
0.00002
|
NM_138773.4(SLC25A46):c.1008A>G (p.Thr336=)
|
rs753034037
|
0.00001
|
NM_138773.4(SLC25A46):c.1012T>C (p.Leu338=)
|
rs1427862087
|
0.00001
|
NM_138773.4(SLC25A46):c.1019G>A (p.Arg340His)
|
rs1406148342
|
0.00001
|
NM_138773.4(SLC25A46):c.1039C>T (p.Arg347Cys)
|
rs1800252146
|
0.00001
|
NM_138773.4(SLC25A46):c.1074A>G (p.Glu358=)
|
rs762830379
|
0.00001
|
NM_138773.4(SLC25A46):c.1101G>A (p.Glu367=)
|
rs768641525
|
0.00001
|
NM_138773.4(SLC25A46):c.1198G>A (p.Ala400Thr)
|
rs1800256724
|
0.00001
|
NM_138773.4(SLC25A46):c.1218C>A (p.Thr406=)
|
rs530497959
|
0.00001
|
NM_138773.4(SLC25A46):c.1248T>C (p.Asn416=)
|
rs776771749
|
0.00001
|
NM_138773.4(SLC25A46):c.124T>G (p.Trp42Gly)
|
rs1167256450
|
0.00001
|
NM_138773.4(SLC25A46):c.12G>A (p.Arg4=)
|
rs1443851670
|
0.00001
|
NM_138773.4(SLC25A46):c.166dup (p.His56fs)
|
rs1057519416
|
0.00001
|
NM_138773.4(SLC25A46):c.177G>A (p.Glu59=)
|
rs777324317
|
0.00001
|
NM_138773.4(SLC25A46):c.194G>C (p.Gly65Ala)
|
rs1410055577
|
0.00001
|
NM_138773.4(SLC25A46):c.19G>A (p.Asp7Asn)
|
rs1295016936
|
0.00001
|
NM_138773.4(SLC25A46):c.229A>C (p.Thr77Pro)
|
rs1799549657
|
0.00001
|
NM_138773.4(SLC25A46):c.230C>T (p.Thr77Met)
|
rs968966762
|
0.00001
|
NM_138773.4(SLC25A46):c.237A>C (p.Glu79Asp)
|
rs1235999169
|
0.00001
|
NM_138773.4(SLC25A46):c.23G>C (p.Gly8Ala)
|
rs960197684
|
0.00001
|
NM_138773.4(SLC25A46):c.261C>A (p.Gly87=)
|
rs955762085
|
0.00001
|
NM_138773.4(SLC25A46):c.26T>C (p.Phe9Ser)
|
rs1561595610
|
0.00001
|
NM_138773.4(SLC25A46):c.283+13G>A
|
rs1445933845
|
0.00001
|
NM_138773.4(SLC25A46):c.313A>T (p.Ile105Phe)
|
rs768960064
|
0.00001
|
NM_138773.4(SLC25A46):c.315T>G (p.Ile105Met)
|
rs761386224
|
0.00001
|
NM_138773.4(SLC25A46):c.323C>T (p.Ala108Val)
|
rs1400743911
|
0.00001
|
NM_138773.4(SLC25A46):c.326+20C>T
|
rs751750749
|
0.00001
|
NM_138773.4(SLC25A46):c.371G>A (p.Arg124His)
|
rs756258729
|
0.00001
|
NM_138773.4(SLC25A46):c.384+7G>A
|
rs760742549
|
0.00001
|
NM_138773.4(SLC25A46):c.385G>A (p.Val129Ile)
|
rs766440921
|
0.00001
|
NM_138773.4(SLC25A46):c.426A>T (p.Thr142=)
|
rs758691521
|
0.00001
|
NM_138773.4(SLC25A46):c.436A>G (p.Ile146Val)
|
rs770525652
|
0.00001
|
NM_138773.4(SLC25A46):c.43C>T (p.Arg15Trp)
|
rs369936836
|
0.00001
|
NM_138773.4(SLC25A46):c.55C>A (p.Arg19=)
|
rs1186440654
|
0.00001
|
NM_138773.4(SLC25A46):c.564-15A>G
|
rs1394762178
|
0.00001
|
NM_138773.4(SLC25A46):c.569T>C (p.Val190Ala)
|
rs372083789
|
0.00001
|
NM_138773.4(SLC25A46):c.626C>T (p.Thr209Ile)
|
rs752217990
|
0.00001
|
NM_138773.4(SLC25A46):c.632T>C (p.Val211Ala)
|
rs756983101
|
0.00001
|
NM_138773.4(SLC25A46):c.634G>T (p.Val212Leu)
|
rs543911130
|
0.00001
|
NM_138773.4(SLC25A46):c.661C>A (p.Leu221Met)
|
rs141365604
|
0.00001
|
NM_138773.4(SLC25A46):c.679-12T>C
|
rs1329331980
|
0.00001
|
NM_138773.4(SLC25A46):c.679-7A>G
|
rs775146466
|
0.00001
|
NM_138773.4(SLC25A46):c.711G>A (p.Leu237=)
|
rs1411625237
|
0.00001
|
NM_138773.4(SLC25A46):c.740T>C (p.Val247Ala)
|
rs1308587017
|
0.00001
|
NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu)
|
rs1580870705
|
0.00001
|
NM_138773.4(SLC25A46):c.804G>A (p.Thr268=)
|
rs757342761
|
0.00001
|
NM_138773.4(SLC25A46):c.81C>T (p.Ala27=)
|
rs1323118441
|
0.00001
|
NM_138773.4(SLC25A46):c.829A>C (p.Ile277Leu)
|
rs747810302
|
0.00001
|
NM_138773.4(SLC25A46):c.84C>T (p.Phe28=)
|
rs1460019948
|
0.00001
|
NM_138773.4(SLC25A46):c.884A>C (p.Tyr295Ser)
|
rs765131039
|
0.00001
|
NM_138773.4(SLC25A46):c.887A>G (p.Asn296Ser)
|
rs201789237
|
0.00001
|
NM_138773.4(SLC25A46):c.930G>T (p.Leu310Phe)
|
rs746484775
|
0.00001
|
NC_000005.10:g.(?_110743720)_(110743797_?)del
|
|
|
NC_000005.9:g.(?_110074801)_(110151791_?)del
|
|
|
NC_000005.9:g.(?_110074821)_(110097482_?)del
|
|
|
NC_000005.9:g.(?_110074821)_110097482del
|
|
|
NC_000005.9:g.(?_110077728)_(110083984_?)dup
|
|
|
NC_000005.9:g.(?_110096884)_(110097482_?)dup
|
|
|
NM_138773.4(SLC25A46):c.1005A>T (p.Glu335Asp)
|
rs1057518748
|
|
NM_138773.4(SLC25A46):c.100A>G (p.Ser34Gly)
|
rs1580850073
|
|
NM_138773.4(SLC25A46):c.1015C>T (p.His339Tyr)
|
rs777283215
|
|
NM_138773.4(SLC25A46):c.1019G>C (p.Arg340Pro)
|
rs1406148342
|
|
NM_138773.4(SLC25A46):c.1036A>G (p.Thr346Ala)
|
rs1561610023
|
|
NM_138773.4(SLC25A46):c.1042A>T (p.Thr348Ser)
|
|
|
NM_138773.4(SLC25A46):c.1045A>G (p.Ile349Val)
|
rs1800252268
|
|
NM_138773.4(SLC25A46):c.105C>T (p.Thr35=)
|
rs1295091261
|
|
NM_138773.4(SLC25A46):c.106G>A (p.Gly36Arg)
|
rs761259380
|
|
NM_138773.4(SLC25A46):c.106G>C (p.Gly36Arg)
|
|
|
NM_138773.4(SLC25A46):c.1070A>G (p.Tyr357Cys)
|
rs1229680117
|
|
NM_138773.4(SLC25A46):c.1072G>C (p.Glu358Gln)
|
rs977278982
|
|
NM_138773.4(SLC25A46):c.1078_1087dup (p.Asn363delinsThrSerAsnTer)
|
rs1561610094
|
|
NM_138773.4(SLC25A46):c.1092A>C (p.Thr364=)
|
rs1800253655
|
|
NM_138773.4(SLC25A46):c.1107G>A (p.Met369Ile)
|
rs1019423413
|
|
NM_138773.4(SLC25A46):c.1113C>G (p.Asp371Glu)
|
|
|
NM_138773.4(SLC25A46):c.1125C>T (p.Thr375=)
|
rs2150419387
|
|
NM_138773.4(SLC25A46):c.1134G>A (p.Gln378=)
|
rs1164068029
|
|
NM_138773.4(SLC25A46):c.1134G>C (p.Gln378His)
|
rs1164068029
|
|
NM_138773.4(SLC25A46):c.1135G>C (p.Glu379Gln)
|
rs370880304
|
|
NM_138773.4(SLC25A46):c.1152T>C (p.Gly384=)
|
rs2150419425
|
|
NM_138773.4(SLC25A46):c.115C>T (p.Leu39=)
|
|
|
NM_138773.4(SLC25A46):c.116T>C (p.Leu39Pro)
|
rs2150404217
|
|
NM_138773.4(SLC25A46):c.1180A>G (p.Ile394Val)
|
|
|
NM_138773.4(SLC25A46):c.1190C>G (p.Thr397Arg)
|
rs1342717502
|
|
NM_138773.4(SLC25A46):c.11_12insTG (p.Arg5fs)
|
rs1064795772
|
|
NM_138773.4(SLC25A46):c.1200A>G (p.Ala400=)
|
rs2150419453
|
|
NM_138773.4(SLC25A46):c.1203T>C (p.Ala401=)
|
rs1580871216
|
|
NM_138773.4(SLC25A46):c.1213A>G (p.Ile405Val)
|
rs1561610274
|
|
NM_138773.4(SLC25A46):c.1231T>C (p.Ser411Pro)
|
|
|
NM_138773.4(SLC25A46):c.1234A>G (p.Thr412Ala)
|
|
|
NM_138773.4(SLC25A46):c.123C>T (p.His41=)
|
|
|
NM_138773.4(SLC25A46):c.1247A>C (p.Asn416Thr)
|
rs2150419511
|
|
NM_138773.4(SLC25A46):c.1250A>G (p.Asn417Ser)
|
|
|
NM_138773.4(SLC25A46):c.1254T>C (p.Ile418=)
|
|
|
NM_138773.4(SLC25A46):c.1256G>C (p.Ter419Ser)
|
rs1365339601
|
|
NM_138773.4(SLC25A46):c.1257A>G (p.Ter419Trp)
|
rs1800259229
|
|
NM_138773.4(SLC25A46):c.127G>A (p.Val43Met)
|
|
|
NM_138773.4(SLC25A46):c.134C>T (p.Thr45Ile)
|
rs1554091122
|
|
NM_138773.4(SLC25A46):c.135T>C (p.Thr45=)
|
|
|
NM_138773.4(SLC25A46):c.13C>A (p.Arg5Ser)
|
rs778529430
|
|
NM_138773.4(SLC25A46):c.146T>C (p.Ile49Thr)
|
|
|
NM_138773.4(SLC25A46):c.147C>A (p.Ile49=)
|
rs145421520
|
|
NM_138773.4(SLC25A46):c.14G>T (p.Arg5Leu)
|
rs1272997827
|
|
NM_138773.4(SLC25A46):c.158G>T (p.Arg53Leu)
|
rs867841573
|
|
NM_138773.4(SLC25A46):c.160A>C (p.Asn54His)
|
|
|
NM_138773.4(SLC25A46):c.185_189del (p.Pro62fs)
|
rs1799544883
|
|
NM_138773.4(SLC25A46):c.186G>T (p.Pro62=)
|
|
|
NM_138773.4(SLC25A46):c.18G>T (p.Pro6=)
|
|
|
NM_138773.4(SLC25A46):c.193_201dup (p.Gly65_Pro67dup)
|
rs2150404461
|
|
NM_138773.4(SLC25A46):c.196G>T (p.Val66Leu)
|
rs758140632
|
|
NM_138773.4(SLC25A46):c.198G>T (p.Val66=)
|
rs761232447
|
|
NM_138773.4(SLC25A46):c.203C>G (p.Thr68Ser)
|
rs763466158
|
|
NM_138773.4(SLC25A46):c.209C>G (p.Ser70Cys)
|
rs904962071
|
|
NM_138773.4(SLC25A46):c.211A>G (p.Thr71Ala)
|
|
|
NM_138773.4(SLC25A46):c.239C>A (p.Pro80His)
|
rs773343482
|
|
NM_138773.4(SLC25A46):c.241T>C (p.Phe81Leu)
|
rs747086911
|
|
NM_138773.4(SLC25A46):c.247A>G (p.Ser83Gly)
|
rs892374338
|
|
NM_138773.4(SLC25A46):c.273del (p.Gln92fs)
|
rs1022269942
|
|
NM_138773.4(SLC25A46):c.283+15G>A
|
|
|
NM_138773.4(SLC25A46):c.283+17C>T
|
|
|
NM_138773.4(SLC25A46):c.283+9C>G
|
|
|
NM_138773.4(SLC25A46):c.284-11T>C
|
rs2150408031
|
|
NM_138773.4(SLC25A46):c.284-16T>C
|
|
|
NM_138773.4(SLC25A46):c.284-3T>C
|
rs770457308
|
|
NM_138773.4(SLC25A46):c.284-8dup
|
rs559871816
|
|
NM_138773.4(SLC25A46):c.288G>A (p.Gln96=)
|
rs2150408040
|
|
NM_138773.4(SLC25A46):c.303T>C (p.Ala101=)
|
|
|
NM_138773.4(SLC25A46):c.304G>T (p.Gly102Ter)
|
|
|
NM_138773.4(SLC25A46):c.313A>G (p.Ile105Val)
|
rs768960064
|
|
NM_138773.4(SLC25A46):c.322G>A (p.Ala108Thr)
|
rs766964934
|
|
NM_138773.4(SLC25A46):c.326+11A>G
|
rs760216361
|
|
NM_138773.4(SLC25A46):c.327-19A>C
|
|
|
NM_138773.4(SLC25A46):c.327-2A>C
|
|
|
NM_138773.4(SLC25A46):c.32G>A (p.Gly11Asp)
|
rs1187287545
|
|
NM_138773.4(SLC25A46):c.354T>A (p.His118Gln)
|
|
|
NM_138773.4(SLC25A46):c.354T>C (p.His118=)
|
rs748251446
|
|
NM_138773.4(SLC25A46):c.356C>T (p.Pro119Leu)
|
rs2150408930
|
|
NM_138773.4(SLC25A46):c.358T>C (p.Cys120Arg)
|
rs1799746442
|
|
NM_138773.4(SLC25A46):c.359G>T (p.Cys120Phe)
|
rs772344091
|
|
NM_138773.4(SLC25A46):c.361A>G (p.Ile121Val)
|
|
|
NM_138773.4(SLC25A46):c.384+4A>C
|
rs755470887
|
|
NM_138773.4(SLC25A46):c.385-15A>G
|
rs2150410313
|
|
NM_138773.4(SLC25A46):c.385-2A>T
|
rs1799815535
|
|
NM_138773.4(SLC25A46):c.389A>C (p.Asn130Thr)
|
rs1007822688
|
|
NM_138773.4(SLC25A46):c.398C>T (p.Ala133Val)
|
|
|
NM_138773.4(SLC25A46):c.3G>A (p.Met1Ile)
|
rs1799527654
|
|
NM_138773.4(SLC25A46):c.402G>C (p.Gln134His)
|
rs1799816585
|
|
NM_138773.4(SLC25A46):c.407A>G (p.Tyr136Cys)
|
rs1799816715
|
|
NM_138773.4(SLC25A46):c.413T>G (p.Leu138Arg)
|
rs1057519295
|
|
NM_138773.4(SLC25A46):c.426A>C (p.Thr142=)
|
rs758691521
|
|
NM_138773.4(SLC25A46):c.426A>G (p.Thr142=)
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|
|
NM_138773.4(SLC25A46):c.427G>A (p.Val143Ile)
|
rs1554092069
|
|
NM_138773.4(SLC25A46):c.42C>T (p.Tyr14=)
|
|
|
NM_138773.4(SLC25A46):c.435T>C (p.Asn145=)
|
|
|
NM_138773.4(SLC25A46):c.439A>G (p.Met147Val)
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|
|
NM_138773.4(SLC25A46):c.444C>T (p.Tyr148=)
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|
|
NM_138773.4(SLC25A46):c.44G>A (p.Arg15Gln)
|
rs372382932
|
|
NM_138773.4(SLC25A46):c.462+10T>C
|
rs1580858938
|
|
NM_138773.4(SLC25A46):c.462+12G>T
|
|
|
NM_138773.4(SLC25A46):c.462+1G>A
|
rs1799819389
|
|
NM_138773.4(SLC25A46):c.462+2T>C
|
|
|
NM_138773.4(SLC25A46):c.463-3del
|
rs769567758
|
|
NM_138773.4(SLC25A46):c.468T>C (p.Pro156=)
|
rs2150411201
|
|
NM_138773.4(SLC25A46):c.46G>T (p.Gly16Cys)
|
rs770562376
|
|
NM_138773.4(SLC25A46):c.470G>C (p.Arg157Thr)
|
|
|
NM_138773.4(SLC25A46):c.479G>C (p.Trp160Ser)
|
|
|
NM_138773.4(SLC25A46):c.47del (p.Gly16fs)
|
rs1580849841
|
|
NM_138773.4(SLC25A46):c.489G>C (p.Met163Ile)
|
|
|
NM_138773.4(SLC25A46):c.48T>C (p.Gly16=)
|
rs2150404063
|
|
NM_138773.4(SLC25A46):c.50G>A (p.Gly17Asp)
|
rs1561595689
|
|
NM_138773.4(SLC25A46):c.54C>T (p.Ala18=)
|
|
|
NM_138773.4(SLC25A46):c.563+19C>A
|
|
|
NM_138773.4(SLC25A46):c.563+4C>A
|
rs999030471
|
|
NM_138773.4(SLC25A46):c.563+7T>C
|
|
|
NM_138773.4(SLC25A46):c.56G>T (p.Arg19Leu)
|
|
|
NM_138773.4(SLC25A46):c.579A>T (p.Lys193Asn)
|
rs1580866176
|
|
NM_138773.4(SLC25A46):c.597A>G (p.Ile199Met)
|
rs924688251
|
|
NM_138773.4(SLC25A46):c.598_599dup (p.His202fs)
|
|
|
NM_138773.4(SLC25A46):c.59A>T (p.Asp20Val)
|
rs1799533031
|
|
NM_138773.4(SLC25A46):c.601G>C (p.Glu201Gln)
|
rs1390370205
|
|
NM_138773.4(SLC25A46):c.618del (p.Lys206fs)
|
rs1371249361
|
|
NM_138773.4(SLC25A46):c.61G>A (p.Glu21Lys)
|
|
|
NM_138773.4(SLC25A46):c.620+15A>G
|
|
|
NM_138773.4(SLC25A46):c.620+18G>A
|
|
|
NM_138773.4(SLC25A46):c.620+19C>T
|
|
|
NM_138773.4(SLC25A46):c.620+1G>A
|
|
|
NM_138773.4(SLC25A46):c.620+2dup
|
rs1409708415
|
|
NM_138773.4(SLC25A46):c.620+4_620+7del
|
rs1580866253
|
|
NM_138773.4(SLC25A46):c.620C>A (p.Ser207Tyr)
|
rs766116322
|
|
NM_138773.4(SLC25A46):c.621-13T>C
|
|
|
NM_138773.4(SLC25A46):c.621-16G>A
|
|
|
NM_138773.4(SLC25A46):c.621-17T>G
|
|
|
NM_138773.4(SLC25A46):c.621-5T>C
|
|
|
NM_138773.4(SLC25A46):c.63G>T (p.Glu21Asp)
|
rs1561595734
|
|
NM_138773.4(SLC25A46):c.640A>G (p.Met214Val)
|
|
|
NM_138773.4(SLC25A46):c.665T>C (p.Ile222Thr)
|
|
|
NM_138773.4(SLC25A46):c.670A>G (p.Thr224Ala)
|
|
|
NM_138773.4(SLC25A46):c.678+10T>C
|
rs760016782
|
|
NM_138773.4(SLC25A46):c.678+10T>G
|
|
|
NM_138773.4(SLC25A46):c.678+14del
|
|
|
NM_138773.4(SLC25A46):c.678+14dup
|
rs539229853
|
|
NM_138773.4(SLC25A46):c.678+20C>T
|
|
|
NM_138773.4(SLC25A46):c.678+3G>A
|
rs1580867186
|
|
NM_138773.4(SLC25A46):c.679-16A>G
|
|
|
NM_138773.4(SLC25A46):c.679-17C>T
|
rs1392231722
|
|
NM_138773.4(SLC25A46):c.679-1G>A
|
rs1800238919
|
|
NM_138773.4(SLC25A46):c.679-8dup
|
rs751152278
|
|
NM_138773.4(SLC25A46):c.699T>A (p.Asn233Lys)
|
|
|
NM_138773.4(SLC25A46):c.702T>C (p.Thr234=)
|
rs1183572047
|
|
NM_138773.4(SLC25A46):c.709T>C (p.Leu237=)
|
|
|
NM_138773.4(SLC25A46):c.717T>C (p.Cys239=)
|
|
|
NM_138773.4(SLC25A46):c.722A>C (p.Lys241Thr)
|
rs2150419004
|
|
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter)
|
rs1554093168
|
|
NM_138773.4(SLC25A46):c.741G>A (p.Val247=)
|
rs1800241437
|
|
NM_138773.4(SLC25A46):c.75C>A (p.Gly25=)
|
|
|
NM_138773.4(SLC25A46):c.762T>C (p.His254=)
|
|
|
NM_138773.4(SLC25A46):c.764G>C (p.Ser255Thr)
|
|
|
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln)
|
rs1184021143
|
|
NM_138773.4(SLC25A46):c.780G>T (p.Pro260=)
|
rs766154121
|
|
NM_138773.4(SLC25A46):c.78C>T (p.Gly26=)
|
rs2150404110
|
|
NM_138773.4(SLC25A46):c.798C>A (p.Phe266Leu)
|
rs1800243883
|
|
NM_138773.4(SLC25A46):c.799_800dup (p.Thr268fs)
|
rs1800243948
|
|
NM_138773.4(SLC25A46):c.803C>T (p.Thr268Met)
|
rs751900293
|
|
NM_138773.4(SLC25A46):c.813T>C (p.His271=)
|
|
|
NM_138773.4(SLC25A46):c.816A>T (p.Gly272=)
|
|
|
NM_138773.4(SLC25A46):c.848A>C (p.Gln283Pro)
|
rs2150419144
|
|
NM_138773.4(SLC25A46):c.84C>G (p.Phe28Leu)
|
rs1460019948
|
|
NM_138773.4(SLC25A46):c.859C>T (p.Leu287=)
|
|
|
NM_138773.4(SLC25A46):c.864_866dup (p.Ile289dup)
|
rs1800246194
|
|
NM_138773.4(SLC25A46):c.870A>C (p.Leu290=)
|
rs372999666
|
|
NM_138773.4(SLC25A46):c.870A>G (p.Leu290=)
|
|
|
NM_138773.4(SLC25A46):c.878A>T (p.Lys293Met)
|
rs1800246681
|
|
NM_138773.4(SLC25A46):c.879G>C (p.Lys293Asn)
|
rs1800246744
|
|
NM_138773.4(SLC25A46):c.892C>T (p.His298Tyr)
|
|
|
NM_138773.4(SLC25A46):c.903G>C (p.Glu301Asp)
|
rs2150419215
|
|
NM_138773.4(SLC25A46):c.927G>T (p.Met309Ile)
|
rs777447707
|
|
NM_138773.4(SLC25A46):c.928T>C (p.Leu310=)
|
rs1800248230
|
|
NM_138773.4(SLC25A46):c.92G>A (p.Arg31Lys)
|
|
|
NM_138773.4(SLC25A46):c.931G>A (p.Asp311Asn)
|
rs894545180
|
|
NM_138773.4(SLC25A46):c.938_940del (p.Tyr313del)
|
rs374899270
|
|
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup)
|
rs374899270
|
|
NM_138773.4(SLC25A46):c.939T>C (p.Tyr313=)
|
rs1188835273
|
|
NM_138773.4(SLC25A46):c.93G>C (p.Arg31Ser)
|
rs2150404149
|
|
NM_138773.4(SLC25A46):c.945A>C (p.Pro315=)
|
|
|
NM_138773.4(SLC25A46):c.946G>A (p.Glu316Lys)
|
rs2150419254
|
|
NM_138773.4(SLC25A46):c.953T>C (p.Ile318Thr)
|
rs201858314
|
|
NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro)
|
rs1390567933
|
|
NM_138773.4(SLC25A46):c.960C>A (p.Asn320Lys)
|
rs1800249439
|
|
NM_138773.4(SLC25A46):c.965C>G (p.Ala322Gly)
|
|
|
NM_138773.4(SLC25A46):c.96C>T (p.Ser32=)
|
|
|
NM_138773.4(SLC25A46):c.984C>T (p.Asp328=)
|
|
|
NM_138773.4(SLC25A46):c.992T>C (p.Leu331Pro)
|
rs1580870952
|
|
NM_138773.4(SLC25A46):c.996C>G (p.Tyr332Ter)
|
rs530045841
|
|
NM_138773.4(SLC25A46):c.999A>G (p.Pro333=)
|
|
|
NM_138773.4(SLC25A46):c.9G>A (p.Pro3=)
|
|
|
NM_138773.4(SLC25A46):c.9GCG[1] (p.Arg5del)
|
rs2150403955
|
|