NM_001379110.1(SLC9A6):c.1768-167T>G
|
rs112451243
|
0.09055
|
NM_001379110.1(SLC9A6):c.1551-63T>C
|
rs10521848
|
0.07363
|
NM_001379110.1(SLC9A6):c.1195-63G>A
|
rs6654309
|
0.07356
|
NM_001379110.1(SLC9A6):c.886-297T>C
|
rs17001282
|
0.07344
|
NM_001379110.1(SLC9A6):c.1306+8G>A
|
rs6654310
|
0.05510
|
NM_001379110.1(SLC9A6):c.1689C>T (p.Ser563=)
|
rs2307131
|
0.03011
|
NM_001379110.1(SLC9A6):c.1080+31C>A
|
rs2291639
|
0.02716
|
NM_001379110.1(SLC9A6):c.1551-98T>G
|
rs2279595
|
0.02267
|
NM_001379110.1(SLC9A6):c.744-6C>T
|
rs17001258
|
0.01856
|
NM_006359.2(SLC9A6):c.-368G>A
|
rs145928242
|
0.01712
|
NM_006359.2(SLC9A6):c.-349C>T
|
rs138591582
|
0.01486
|
NM_001379110.1(SLC9A6):c.170-125C>T
|
rs138795073
|
0.01102
|
NM_001379110.1(SLC9A6):c.448-71G>C
|
rs116275343
|
0.00949
|
NM_001379110.1(SLC9A6):c.1768-219A>G
|
rs147850191
|
0.00758
|
NM_001379110.1(SLC9A6):c.1662-4G>A
|
rs188072063
|
0.00707
|
NM_001379110.1(SLC9A6):c.474T>C (p.Ser158=)
|
rs144316388
|
0.00625
|
NM_001379110.1(SLC9A6):c.170-197A>G
|
rs180893504
|
0.00552
|
NM_001379110.1(SLC9A6):c.448-5G>T
|
rs372580592
|
0.00549
|
NM_001379110.1(SLC9A6):c.1029A>C (p.Ala343=)
|
rs142049079
|
0.00390
|
NM_001379110.1(SLC9A6):c.885+179G>A
|
rs782297881
|
0.00293
|
NM_001379110.1(SLC9A6):c.1460+4A>G
|
rs180727016
|
0.00236
|
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln)
|
rs146263125
|
0.00166
|
NM_001379110.1(SLC9A6):c.*8A>T
|
rs200171451
|
0.00157
|
NM_001379110.1(SLC9A6):c.*5_*6del
|
rs781795776
|
0.00149
|
NM_001379110.1(SLC9A6):c.1460+6T>C
|
rs781963949
|
0.00047
|
NM_001379110.1(SLC9A6):c.1460+10A>G
|
rs185533973
|
0.00026
|
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=)
|
rs151178361
|
0.00022
|
NM_001379110.1(SLC9A6):c.1661+18A>G
|
rs782141247
|
0.00018
|
NM_001379110.1(SLC9A6):c.1582-3C>T
|
rs563279759
|
0.00017
|
NM_001379110.1(SLC9A6):c.852A>T (p.Ala284=)
|
rs371472909
|
0.00015
|
NM_001379110.1(SLC9A6):c.1581+11G>A
|
rs375145994
|
0.00012
|
NM_001379110.1(SLC9A6):c.338A>G (p.Asn113Ser)
|
rs377126261
|
0.00011
|
NM_001379110.1(SLC9A6):c.*12C>T
|
rs190788663
|
0.00010
|
NM_001379110.1(SLC9A6):c.2022G>A (p.Thr674=)
|
rs781885129
|
0.00010
|
NM_001379110.1(SLC9A6):c.-9G>T
|
rs367724979
|
0.00008
|
NM_001379110.1(SLC9A6):c.1734C>T (p.Ile578=)
|
rs375760367
|
0.00008
|
NM_001379110.1(SLC9A6):c.1551-11T>C
|
rs147479371
|
0.00007
|
NM_001379110.1(SLC9A6):c.524+3A>G
|
rs372679456
|
0.00007
|
NM_001379110.1(SLC9A6):c.1081-18T>C
|
rs376479501
|
0.00006
|
NM_001379110.1(SLC9A6):c.1287A>G (p.Gln429=)
|
rs142161862
|
0.00006
|
NM_001379110.1(SLC9A6):c.228T>C (p.Asn76=)
|
rs782529317
|
0.00006
|
NM_001379110.1(SLC9A6):c.1119C>T (p.Ile373=)
|
rs140158476
|
0.00005
|
NM_001379110.1(SLC9A6):c.*6C>T
|
rs781874329
|
0.00004
|
NM_001379110.1(SLC9A6):c.-4A>G
|
rs782090744
|
0.00004
|
NM_001379110.1(SLC9A6):c.1005A>G (p.Val335=)
|
rs782706500
|
0.00004
|
NM_001379110.1(SLC9A6):c.1307-17T>C
|
rs1212441893
|
0.00004
|
NM_001379110.1(SLC9A6):c.1359T>C (p.Tyr453=)
|
rs782608371
|
0.00004
|
NM_001379110.1(SLC9A6):c.1434T>C (p.Thr478=)
|
rs1057520374
|
0.00004
|
NM_001379110.1(SLC9A6):c.15C>G (p.Ile5Met)
|
rs782296172
|
0.00004
|
NM_001379110.1(SLC9A6):c.2021C>T (p.Thr674Met)
|
rs886044780
|
0.00004
|
NM_001379110.1(SLC9A6):c.262A>G (p.Thr88Ala)
|
rs372003999
|
0.00004
|
NM_001379110.1(SLC9A6):c.-16C>T
|
rs139299794
|
0.00003
|
NM_001379110.1(SLC9A6):c.1055C>T (p.Thr352Met)
|
rs782819852
|
0.00003
|
NM_001379110.1(SLC9A6):c.1307-12G>C
|
rs372153079
|
0.00003
|
NM_001379110.1(SLC9A6):c.1582-9T>C
|
rs782039050
|
0.00003
|
NM_001379110.1(SLC9A6):c.170-16T>A
|
rs548206389
|
0.00003
|
NM_001379110.1(SLC9A6):c.1922G>A (p.Arg641Gln)
|
rs781912974
|
0.00003
|
NM_001379110.1(SLC9A6):c.486C>T (p.Tyr162=)
|
rs782176162
|
0.00003
|
NM_001379110.1(SLC9A6):c.504A>G (p.Ala168=)
|
rs782010755
|
0.00003
|
NM_001379110.1(SLC9A6):c.564G>A (p.Thr188=)
|
rs782216766
|
0.00003
|
NM_001379110.1(SLC9A6):c.-25C>T
|
rs1343262050
|
0.00002
|
NM_001379110.1(SLC9A6):c.-53G>C
|
rs1382310975
|
0.00002
|
NM_001379110.1(SLC9A6):c.-56-17T>G
|
rs782067262
|
0.00002
|
NM_001379110.1(SLC9A6):c.-56-22C>T
|
rs782655120
|
0.00002
|
NM_001379110.1(SLC9A6):c.-56-25C>G
|
rs782396686
|
0.00002
|
NM_001379110.1(SLC9A6):c.-56-35C>G
|
rs1282592417
|
0.00002
|
NM_001379110.1(SLC9A6):c.1080+7G>A
|
rs1184144149
|
0.00002
|
NM_001379110.1(SLC9A6):c.1143G>A (p.Leu381=)
|
rs782501407
|
0.00002
|
NM_001379110.1(SLC9A6):c.1157A>G (p.Asn386Ser)
|
rs782772247
|
0.00002
|
NM_001379110.1(SLC9A6):c.1170C>T (p.Asn390=)
|
rs781953296
|
0.00002
|
NM_001379110.1(SLC9A6):c.1269G>C (p.Lys423Asn)
|
rs781918578
|
0.00002
|
NM_001379110.1(SLC9A6):c.1428C>T (p.Gly476=)
|
rs782370742
|
0.00002
|
NM_001379110.1(SLC9A6):c.1551-18T>G
|
rs782056708
|
0.00002
|
NM_001379110.1(SLC9A6):c.1555G>A (p.Gly519Ser)
|
rs782731165
|
0.00002
|
NM_001379110.1(SLC9A6):c.1581+17G>A
|
rs917623322
|
0.00002
|
NM_001379110.1(SLC9A6):c.1599A>C (p.Glu533Asp)
|
rs781949645
|
0.00002
|
NM_001379110.1(SLC9A6):c.1833A>T (p.Thr611=)
|
rs782629258
|
0.00002
|
NM_001379110.1(SLC9A6):c.1844C>T (p.Ser615Phe)
|
rs782178607
|
0.00002
|
NM_001379110.1(SLC9A6):c.1862C>T (p.Pro621Leu)
|
rs782442071
|
0.00002
|
NM_001379110.1(SLC9A6):c.1873A>G (p.Ser625Gly)
|
rs558960349
|
0.00002
|
NM_001379110.1(SLC9A6):c.1955T>C (p.Ile652Thr)
|
rs2071568073
|
0.00002
|
NM_001379110.1(SLC9A6):c.2037C>T (p.Ala679=)
|
rs1256013560
|
0.00002
|
NM_001379110.1(SLC9A6):c.213G>A (p.Pro71=)
|
rs782600941
|
0.00002
|
NM_001379110.1(SLC9A6):c.220G>A (p.Val74Ile)
|
rs781798443
|
0.00002
|
NM_001379110.1(SLC9A6):c.403T>C (p.Leu135=)
|
rs375741763
|
0.00002
|
NM_001379110.1(SLC9A6):c.483A>G (p.Ala161=)
|
rs781961294
|
0.00002
|
NM_001379110.1(SLC9A6):c.516C>T (p.Phe172=)
|
rs1423014570
|
0.00002
|
NM_001379110.1(SLC9A6):c.525G>A (p.Gly175=)
|
rs143859232
|
0.00002
|
NM_001379110.1(SLC9A6):c.594A>G (p.Thr198=)
|
rs782072028
|
0.00002
|
NM_001379110.1(SLC9A6):c.637+12del
|
rs782060423
|
0.00002
|
NM_001379110.1(SLC9A6):c.660C>T (p.His220=)
|
rs1166825388
|
0.00002
|
NM_001379110.1(SLC9A6):c.801G>A (p.Ala267=)
|
rs185192141
|
0.00002
|
NM_001379110.1(SLC9A6):c.933C>A (p.Gly311=)
|
rs1312175298
|
0.00002
|
NM_001379110.1(SLC9A6):c.*16C>G
|
rs1057522565
|
0.00001
|
NM_001379110.1(SLC9A6):c.-35G>A
|
rs782774568
|
0.00001
|
NM_001379110.1(SLC9A6):c.-56-19C>T
|
rs781947192
|
0.00001
|
NM_001379110.1(SLC9A6):c.-56-21C>A
|
rs782242879
|
0.00001
|
NM_001379110.1(SLC9A6):c.-56-34A>G
|
rs796053277
|
0.00001
|
NM_001379110.1(SLC9A6):c.-56-4G>T
|
rs782312727
|
0.00001
|
NM_001379110.1(SLC9A6):c.1026A>G (p.Gln342=)
|
rs1556618901
|
0.00001
|
NM_001379110.1(SLC9A6):c.1038G>T (p.Thr346=)
|
rs782783023
|
0.00001
|
NM_001379110.1(SLC9A6):c.1059G>A (p.Glu353=)
|
rs536438925
|
0.00001
|
NM_001379110.1(SLC9A6):c.1080+10A>G
|
rs191388209
|
0.00001
|
NM_001379110.1(SLC9A6):c.1081-7G>A
|
rs1556619293
|
0.00001
|
NM_001379110.1(SLC9A6):c.1081-8C>T
|
rs1060504684
|
0.00001
|
NM_001379110.1(SLC9A6):c.1140A>G (p.Thr380=)
|
rs138074772
|
0.00001
|
NM_001379110.1(SLC9A6):c.1227T>C (p.Ile409=)
|
rs1556620031
|
0.00001
|
NM_001379110.1(SLC9A6):c.1307-13T>C
|
rs781876462
|
0.00001
|
NM_001379110.1(SLC9A6):c.1380C>T (p.Ser460=)
|
rs782177396
|
0.00001
|
NM_001379110.1(SLC9A6):c.1385C>T (p.Thr462Met)
|
rs1229345478
|
0.00001
|
NM_001379110.1(SLC9A6):c.13A>C (p.Ile5Leu)
|
rs1556614802
|
0.00001
|
NM_001379110.1(SLC9A6):c.1551-6C>T
|
rs1261135104
|
0.00001
|
NM_001379110.1(SLC9A6):c.1581+10C>T
|
rs1034902692
|
0.00001
|
NM_001379110.1(SLC9A6):c.1581+15T>C
|
rs990491678
|
0.00001
|
NM_001379110.1(SLC9A6):c.1588C>A (p.Pro530Thr)
|
rs782145804
|
0.00001
|
NM_001379110.1(SLC9A6):c.1690G>A (p.Gly564Arg)
|
rs782196157
|
0.00001
|
NM_001379110.1(SLC9A6):c.170-11C>T
|
rs782547014
|
0.00001
|
NM_001379110.1(SLC9A6):c.1711C>T (p.Leu571Phe)
|
rs149360465
|
0.00001
|
NM_001379110.1(SLC9A6):c.1738A>T (p.Arg580Trp)
|
rs144661402
|
0.00001
|
NM_001379110.1(SLC9A6):c.1764C>T (p.Tyr588=)
|
rs2071482902
|
0.00001
|
NM_001379110.1(SLC9A6):c.1839A>T (p.Gly613=)
|
rs1556623192
|
0.00001
|
NM_001379110.1(SLC9A6):c.1863G>A (p.Pro621=)
|
rs782665428
|
0.00001
|
NM_001379110.1(SLC9A6):c.1887A>G (p.Arg629=)
|
rs782350079
|
0.00001
|
NM_001379110.1(SLC9A6):c.1958G>A (p.Arg653Gln)
|
rs1177738754
|
0.00001
|
NM_001379110.1(SLC9A6):c.1983G>A (p.Met661Ile)
|
rs782730126
|
0.00001
|
NM_001379110.1(SLC9A6):c.2000C>T (p.Pro667Leu)
|
rs782228236
|
0.00001
|
NM_001379110.1(SLC9A6):c.2001G>A (p.Pro667=)
|
rs782708610
|
0.00001
|
NM_001379110.1(SLC9A6):c.2006A>G (p.Asn669Ser)
|
rs370119753
|
0.00001
|
NM_001379110.1(SLC9A6):c.2039A>G (p.Ter680=)
|
rs142823492
|
0.00001
|
NM_001379110.1(SLC9A6):c.212C>T (p.Pro71Leu)
|
rs782469016
|
0.00001
|
NM_001379110.1(SLC9A6):c.233C>A (p.Thr78Asn)
|
rs782644535
|
0.00001
|
NM_001379110.1(SLC9A6):c.256A>G (p.Ser86Gly)
|
rs587784401
|
0.00001
|
NM_001379110.1(SLC9A6):c.370-8T>C
|
rs782106250
|
0.00001
|
NM_001379110.1(SLC9A6):c.425A>G (p.Tyr142Cys)
|
rs1556616834
|
0.00001
|
NM_001379110.1(SLC9A6):c.448-9_448-8insC
|
rs781959681
|
0.00001
|
NM_001379110.1(SLC9A6):c.448A>G (p.Arg150Gly)
|
rs796053280
|
0.00001
|
NM_001379110.1(SLC9A6):c.452A>T (p.His151Leu)
|
rs796053275
|
0.00001
|
NM_001379110.1(SLC9A6):c.461G>A (p.Arg154Gln)
|
rs782262088
|
0.00001
|
NM_001379110.1(SLC9A6):c.471G>A (p.Gly157=)
|
rs1292220528
|
0.00001
|
NM_001379110.1(SLC9A6):c.475A>G (p.Ile159Val)
|
rs1395246172
|
0.00001
|
NM_001379110.1(SLC9A6):c.517G>A (p.Val173Ile)
|
rs782117973
|
0.00001
|
NM_001379110.1(SLC9A6):c.533T>C (p.Met178Thr)
|
rs2521188242
|
0.00001
|
NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met)
|
rs782759179
|
0.00001
|
NM_001379110.1(SLC9A6):c.549G>A (p.Thr183=)
|
rs782386487
|
0.00001
|
NM_001379110.1(SLC9A6):c.57C>T (p.Ser19=)
|
rs781963863
|
0.00001
|
NM_001379110.1(SLC9A6):c.601C>T (p.Leu201=)
|
rs1556617009
|
0.00001
|
NM_001379110.1(SLC9A6):c.603A>G (p.Leu201=)
|
rs1060504685
|
0.00001
|
NM_001379110.1(SLC9A6):c.630T>C (p.Thr210=)
|
rs1556617019
|
0.00001
|
NM_001379110.1(SLC9A6):c.638-5A>G
|
rs1057520615
|
0.00001
|
NM_001379110.1(SLC9A6):c.652A>G (p.Ile218Val)
|
rs782677140
|
0.00001
|
NM_001379110.1(SLC9A6):c.674A>G (p.Asp225Gly)
|
rs1248694142
|
0.00001
|
NM_001379110.1(SLC9A6):c.743+11G>C
|
rs1556617460
|
0.00001
|
NM_001379110.1(SLC9A6):c.744-7T>C
|
rs1556618483
|
0.00001
|
NM_001379110.1(SLC9A6):c.756A>G (p.Ala252=)
|
rs1556618492
|
0.00001
|
NM_001379110.1(SLC9A6):c.819G>A (p.Gly273=)
|
rs1469270764
|
0.00001
|
NM_001379110.1(SLC9A6):c.885+10T>C
|
rs782141848
|
0.00001
|
NM_001379110.1(SLC9A6):c.885+7T>G
|
rs886044788
|
0.00001
|
NM_001379110.1(SLC9A6):c.936G>C (p.Leu312=)
|
rs2521309604
|
0.00001
|
GRCh37/hg19 Xq26.3(chrX:135067386-135068117)x0
|
|
|
GRCh37/hg19 Xq26.3(chrX:135092601-135092742)x4
|
|
|
NC_000023.10:g.(?_135067662)_(135068006_?)dup
|
|
|
NC_000023.10:g.(?_135067662)_(135084392_?)dup
|
|
|
NC_000023.10:g.(?_135067662)_(135126883_?)del
|
|
|
NC_000023.10:g.(?_135067662)_(135126883_?)dup
|
|
|
NC_000023.10:g.(?_135080247)_(135084392_?)dup
|
|
|
NC_000023.10:g.(?_135080247)_(135126903_?)dup
|
|
|
NC_000023.10:g.(?_135104725)_(135104876_?)del
|
|
|
NC_000023.10:g.(?_135104725)_(135106662_?)del
|
|
|
NC_000023.10:g.(?_135104735)_(135106652_?)del
|
|
|
NC_000023.10:g.(?_135112271)_(135112341_?)del
|
|
|
NC_000023.11:g.(?_135985483)_(136024503_?)dup
|
|
|
NM_001042537:c.916delC
|
|
|
NM_001379110.1(SLC9A6):c.*1G>C
|
rs2521487076
|
|
NM_001379110.1(SLC9A6):c.*4T>C
|
rs2521487124
|
|
NM_001379110.1(SLC9A6):c.*5_*8delinsTT
|
rs797044655
|
|
NM_001379110.1(SLC9A6):c.*7T>C
|
rs2148217238
|
|
NM_001379110.1(SLC9A6):c.-13A>C
|
rs2089322085
|
|
NM_001379110.1(SLC9A6):c.-19C>A
|
rs1030979223
|
|
NM_001379110.1(SLC9A6):c.-1C>T
|
rs911499882
|
|
NM_001379110.1(SLC9A6):c.-20G>A
|
rs782736274
|
|
NM_001379110.1(SLC9A6):c.-23G>A
|
rs2521064844
|
|
NM_001379110.1(SLC9A6):c.-25CGG[5]
|
rs796053292
|
|
NM_001379110.1(SLC9A6):c.-27G>A
|
rs2521064691
|
|
NM_001379110.1(SLC9A6):c.-43C>T
|
rs1569523768
|
|
NM_001379110.1(SLC9A6):c.-45G>A
|
|
|
NM_001379110.1(SLC9A6):c.-51G>A
|
rs2089321131
|
|
NM_001379110.1(SLC9A6):c.-56-28A>C
|
rs797044619
|
|
NM_001379110.1(SLC9A6):c.-56-31C>T
|
rs2148129457
|
|
NM_001379110.1(SLC9A6):c.-56-32G>A
|
rs2148129449
|
|
NM_001379110.1(SLC9A6):c.-56-36G>A
|
rs2089320091
|
|
NM_001379110.1(SLC9A6):c.-56-37C>G
|
|
|
NM_001379110.1(SLC9A6):c.-56-7C>A
|
rs2521064023
|
|
NM_001379110.1(SLC9A6):c.-5G>C
|
rs782509280
|
|
NM_001379110.1(SLC9A6):c.1006T>C (p.Leu336=)
|
rs1556618895
|
|
NM_001379110.1(SLC9A6):c.1008G>A (p.Leu336=)
|
|
|
NM_001379110.1(SLC9A6):c.1034A>C (p.Tyr345Ser)
|
|
|
NM_001379110.1(SLC9A6):c.1037C>T (p.Thr346Met)
|
rs2148174486
|
|
NM_001379110.1(SLC9A6):c.1038G>A (p.Thr346=)
|
rs782783023
|
|
NM_001379110.1(SLC9A6):c.1042A>C (p.Asn348His)
|
rs2521313706
|
|
NM_001379110.1(SLC9A6):c.1070G>C (p.Arg357Thr)
|
rs796053286
|
|
NM_001379110.1(SLC9A6):c.1072A>G (p.Thr358Ala)
|
rs2521314119
|
|
NM_001379110.1(SLC9A6):c.1080+17A>G
|
rs2070960570
|
|
NM_001379110.1(SLC9A6):c.1080+80dup
|
rs35492327
|
|
NM_001379110.1(SLC9A6):c.1081-3C>T
|
|
|
NM_001379110.1(SLC9A6):c.1128C>T (p.Tyr376=)
|
rs2521333027
|
|
NM_001379110.1(SLC9A6):c.1132G>A (p.Gly378Arg)
|
rs868989505
|
|
NM_001379110.1(SLC9A6):c.1142T>C (p.Leu381Pro)
|
|
|
NM_001379110.1(SLC9A6):c.1143_1144del (p.Phe382fs)
|
rs1064793575
|
|
NM_001379110.1(SLC9A6):c.1150T>C (p.Phe384Leu)
|
rs2148179151
|
|
NM_001379110.1(SLC9A6):c.1159C>T (p.His387Tyr)
|
rs2148179162
|
|
NM_001379110.1(SLC9A6):c.1164C>T (p.Val388=)
|
rs1556619315
|
|
NM_001379110.1(SLC9A6):c.1171C>A (p.Pro391Thr)
|
rs1162173194
|
|
NM_001379110.1(SLC9A6):c.1183G>A (p.Val395Ile)
|
rs1556619321
|
|
NM_001379110.1(SLC9A6):c.1186G>A (p.Gly396Arg)
|
rs2521333666
|
|
NM_001379110.1(SLC9A6):c.1186G>T (p.Gly396Ter)
|
|
|
NM_001379110.1(SLC9A6):c.1189del (p.Ala397fs)
|
rs2521333744
|
|
NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu)
|
rs1556619324
|
|
NM_001379110.1(SLC9A6):c.1194+15G>A
|
|
|
NM_001379110.1(SLC9A6):c.1194+16T>C
|
|
|
NM_001379110.1(SLC9A6):c.1195-13T>C
|
rs2521367032
|
|
NM_001379110.1(SLC9A6):c.1195-4T>G
|
rs1057522798
|
|
NM_001379110.1(SLC9A6):c.1195-4_1201delinsAGGTTGCTG
|
rs2071146308
|
|
NM_001379110.1(SLC9A6):c.1195-9T>C
|
rs2521367082
|
|
NM_001379110.1(SLC9A6):c.1201A>G (p.Ile401Val)
|
rs782377840
|
|
NM_001379110.1(SLC9A6):c.1223A>G (p.Asn408Ser)
|
rs2148186858
|
|
NM_001379110.1(SLC9A6):c.1224_1230delinsGTCTTGGGAAGAGCT (p.Asn408fs)
|
rs1556620027
|
|
NM_001379110.1(SLC9A6):c.1231C>A (p.Pro411Thr)
|
|
|
NM_001379110.1(SLC9A6):c.1246_1249del (p.Leu416fs)
|
rs2071147098
|
|
NM_001379110.1(SLC9A6):c.1260AAG[1] (p.Arg421del)
|
rs2521367951
|
|
NM_001379110.1(SLC9A6):c.1278A>G (p.Ser426=)
|
rs1194066499
|
|
NM_001379110.1(SLC9A6):c.1288C>G (p.His430Asp)
|
|
|
NM_001379110.1(SLC9A6):c.1306+15_1306+18del
|
rs782219193
|
|
NM_001379110.1(SLC9A6):c.1306+16C>G
|
rs782113931
|
|
NM_001379110.1(SLC9A6):c.1306+1G>C
|
rs2521368301
|
|
NM_001379110.1(SLC9A6):c.1307-19C>T
|
rs2148189827
|
|
NM_001379110.1(SLC9A6):c.1307-1G>A
|
rs1603215383
|
|
NM_001379110.1(SLC9A6):c.1307-20C>T
|
rs782640749
|
|
NM_001379110.1(SLC9A6):c.1307-298A>G
|
rs144085373
|
|
NM_001379110.1(SLC9A6):c.1307-8C>T
|
rs2071191984
|
|
NM_001379110.1(SLC9A6):c.1307-9C>T
|
|
|
NM_001379110.1(SLC9A6):c.1313G>A (p.Arg438His)
|
rs2148189865
|
|
NM_001379110.1(SLC9A6):c.1313G>T (p.Arg438Leu)
|
|
|
NM_001379110.1(SLC9A6):c.1316G>A (p.Gly439Asp)
|
rs1569525357
|
|
NM_001379110.1(SLC9A6):c.1321A>G (p.Met441Val)
|
rs2521382531
|
|
NM_001379110.1(SLC9A6):c.1330G>A (p.Ala444Thr)
|
rs2521382560
|
|
NM_001379110.1(SLC9A6):c.1338C>T (p.Ala446=)
|
rs2521382618
|
|
NM_001379110.1(SLC9A6):c.1342C>T (p.Arg448Ter)
|
rs122461162
|
|
NM_001379110.1(SLC9A6):c.1348A>G (p.Thr450Ala)
|
rs1556620334
|
|
NM_001379110.1(SLC9A6):c.1378A>G (p.Ser460Gly)
|
rs2521382855
|
|
NM_001379110.1(SLC9A6):c.1387C>G (p.Leu463Val)
|
rs2148189943
|
|
NM_001379110.1(SLC9A6):c.1387C>T (p.Leu463Phe)
|
rs2148189943
|
|
NM_001379110.1(SLC9A6):c.1389T>C (p.Leu463=)
|
rs1556620345
|
|
NM_001379110.1(SLC9A6):c.1394T>C (p.Ile465Thr)
|
rs2521383035
|
|
NM_001379110.1(SLC9A6):c.1408G>A (p.Val470Met)
|
|
|
NM_001379110.1(SLC9A6):c.1418_1419del (p.Phe473fs)
|
|
|
NM_001379110.1(SLC9A6):c.1420G>T (p.Gly474Cys)
|
rs2071193961
|
|
NM_001379110.1(SLC9A6):c.1423_1424insCA (p.Gly475fs)
|
rs2148189993
|
|
NM_001379110.1(SLC9A6):c.1438A>C (p.Met480Leu)
|
rs2148190021
|
|
NM_001379110.1(SLC9A6):c.1438A>G (p.Met480Val)
|
rs2148190021
|
|
NM_001379110.1(SLC9A6):c.1438dup (p.Met480fs)
|
rs2148190013
|
|
NM_001379110.1(SLC9A6):c.1454A>G (p.His485Arg)
|
rs1435740230
|
|
NM_001379110.1(SLC9A6):c.1460+14A>G
|
rs1057520998
|
|
NM_001379110.1(SLC9A6):c.1460+20C>T
|
rs2521384033
|
|
NM_001379110.1(SLC9A6):c.1503T>C (p.His501=)
|
rs2071271908
|
|
NM_001379110.1(SLC9A6):c.1551-19C>T
|
rs1182496104
|
|
NM_001379110.1(SLC9A6):c.1551-5T>C
|
rs2148196761
|
|
NM_001379110.1(SLC9A6):c.1551-9C>G
|
rs2521408972
|
|
NM_001379110.1(SLC9A6):c.1558G>A (p.Val520Ile)
|
rs797044645
|
|
NM_001379110.1(SLC9A6):c.1566A>C (p.Ser522=)
|
rs781843930
|
|
NM_001379110.1(SLC9A6):c.1570C>T (p.Gln524Ter)
|
rs2521409119
|
|
NM_001379110.1(SLC9A6):c.1572A>G (p.Gln524=)
|
rs1556620943
|
|
NM_001379110.1(SLC9A6):c.1573G>T (p.Glu525Ter)
|
rs398123003
|
|
NM_001379110.1(SLC9A6):c.1574A>T (p.Glu525Val)
|
|
|
NM_001379110.1(SLC9A6):c.1578C>T (p.His526=)
|
rs782430960
|
|
NM_001379110.1(SLC9A6):c.1581+16del
|
rs2521409379
|
|
NM_001379110.1(SLC9A6):c.1582-35del
|
rs2071360131
|
|
NM_001379110.1(SLC9A6):c.1582-6C>A
|
|
|
NM_001379110.1(SLC9A6):c.1582G>A (p.Gly528Ser)
|
rs2071360759
|
|
NM_001379110.1(SLC9A6):c.1588C>G (p.Pro530Ala)
|
rs782145804
|
|
NM_001379110.1(SLC9A6):c.1590T>A (p.Pro530=)
|
|
|
NM_001379110.1(SLC9A6):c.1599A>T (p.Glu533Asp)
|
rs781949645
|
|
NM_001379110.1(SLC9A6):c.1599_1603del (p.Arg534fs)
|
rs1603219805
|
|
NM_001379110.1(SLC9A6):c.15C>A (p.Ile5=)
|
rs782296172
|
|
NM_001379110.1(SLC9A6):c.1625_1643del (p.Ala542fs)
|
|
|
NM_001379110.1(SLC9A6):c.1636C>T (p.Arg546Trp)
|
rs782699547
|
|
NM_001379110.1(SLC9A6):c.1638G>A (p.Arg546=)
|
rs2148201776
|
|
NM_001379110.1(SLC9A6):c.1638G>T (p.Arg546=)
|
rs2148201776
|
|
NM_001379110.1(SLC9A6):c.1644del (p.Trp548fs)
|
rs2148201789
|
|
NM_001379110.1(SLC9A6):c.1658A>G (p.His553Arg)
|
rs2521427333
|
|
NM_001379110.1(SLC9A6):c.1661+114_1661+172del
|
rs1556621436
|
|
NM_001379110.1(SLC9A6):c.1661+1G>A
|
rs796053283
|
|
NM_001379110.1(SLC9A6):c.1661+28del
|
rs376371956
|
|
NM_001379110.1(SLC9A6):c.1661+28dup
|
rs376371956
|
|
NM_001379110.1(SLC9A6):c.1662-19_1662-3del
|
rs1569525894
|
|
NM_001379110.1(SLC9A6):c.1662-6C>T
|
rs2521459571
|
|
NM_001379110.1(SLC9A6):c.1664A>G (p.Tyr555Cys)
|
rs2521459703
|
|
NM_001379110.1(SLC9A6):c.1671G>A (p.Lys557=)
|
rs1556622336
|
|
NM_001379110.1(SLC9A6):c.1680G>A (p.Leu560=)
|
|
|
NM_001379110.1(SLC9A6):c.1684dup (p.His562fs)
|
rs2521459845
|
|
NM_001379110.1(SLC9A6):c.169+14C>G
|
rs1556614871
|
|
NM_001379110.1(SLC9A6):c.169+14C>T
|
rs1556614871
|
|
NM_001379110.1(SLC9A6):c.169+15C>T
|
rs2089327341
|
|
NM_001379110.1(SLC9A6):c.169+18T>C
|
rs2089327515
|
|
NM_001379110.1(SLC9A6):c.1690G>C (p.Gly564Arg)
|
rs782196157
|
|
NM_001379110.1(SLC9A6):c.1698G>A (p.Pro566=)
|
rs1060504687
|
|
NM_001379110.1(SLC9A6):c.16_42del (p.Val6_Ser14del)
|
|
|
NM_001379110.1(SLC9A6):c.170-6T>A
|
|
|
NM_001379110.1(SLC9A6):c.1700T>C (p.Leu567Pro)
|
rs2521460090
|
|
NM_001379110.1(SLC9A6):c.1702A>G (p.Thr568Ala)
|
rs2071481648
|
|
NM_001379110.1(SLC9A6):c.1709C>T (p.Thr570Ile)
|
|
|
NM_001379110.1(SLC9A6):c.170G>T (p.Gly57Val)
|
rs2148143998
|
|
NM_001379110.1(SLC9A6):c.1714C>A (p.Pro572Thr)
|
|
|
NM_001379110.1(SLC9A6):c.1718C>G (p.Ala573Gly)
|
rs2521460206
|
|
NM_001379110.1(SLC9A6):c.1721G>A (p.Cys574Tyr)
|
rs2148211264
|
|
NM_001379110.1(SLC9A6):c.1727G>A (p.Gly576Glu)
|
rs2071482037
|
|
NM_001379110.1(SLC9A6):c.1728A>G (p.Gly576=)
|
rs2148211280
|
|
NM_001379110.1(SLC9A6):c.1735G>A (p.Ala579Thr)
|
rs782109482
|
|
NM_001379110.1(SLC9A6):c.1746C>G (p.Leu582=)
|
rs2521460465
|
|
NM_001379110.1(SLC9A6):c.1751G>A (p.Ser584Asn)
|
rs796053288
|
|
NM_001379110.1(SLC9A6):c.1765G>A (p.Glu589Lys)
|
rs1556622379
|
|
NM_001379110.1(SLC9A6):c.1767+12T>G
|
rs2521460846
|
|
NM_001379110.1(SLC9A6):c.1767+4A>G
|
rs1556622382
|
|
NM_001379110.1(SLC9A6):c.1767+9G>A
|
rs782093593
|
|
NM_001379110.1(SLC9A6):c.1768-13T>A
|
rs2521484071
|
|
NM_001379110.1(SLC9A6):c.1768-17dup
|
|
|
NM_001379110.1(SLC9A6):c.1768-6A>G
|
rs1556623179
|
|
NM_001379110.1(SLC9A6):c.1768-9T>G
|
rs2148216706
|
|
NM_001379110.1(SLC9A6):c.1768A>C (p.Asn590His)
|
rs2071563497
|
|
NM_001379110.1(SLC9A6):c.1770C>T (p.Asn590=)
|
rs2071563584
|
|
NM_001379110.1(SLC9A6):c.1777C>G (p.Gln593Glu)
|
rs2521484199
|
|
NM_001379110.1(SLC9A6):c.178G>A (p.Val60Met)
|
rs906567942
|
|
NM_001379110.1(SLC9A6):c.1796C>T (p.Ser599Phe)
|
|
|
NM_001379110.1(SLC9A6):c.1799del (p.Asp600fs)
|
|
|
NM_001379110.1(SLC9A6):c.1812T>C (p.Asn604=)
|
|
|
NM_001379110.1(SLC9A6):c.1814A>T (p.Asp605Val)
|
rs1556623185
|
|
NM_001379110.1(SLC9A6):c.1817G>T (p.Gly606Val)
|
rs2071564269
|
|
NM_001379110.1(SLC9A6):c.1826G>A (p.Ser609Asn)
|
rs1401623269
|
|
NM_001379110.1(SLC9A6):c.1832C>T (p.Thr611Ile)
|
rs2071564662
|
|
NM_001379110.1(SLC9A6):c.1844C>G (p.Ser615Cys)
|
|
|
NM_001379110.1(SLC9A6):c.1849G>A (p.Val617Met)
|
rs2148216878
|
|
NM_001379110.1(SLC9A6):c.1857T>C (p.Thr619=)
|
rs398124223
|
|
NM_001379110.1(SLC9A6):c.1869A>T (p.Thr623=)
|
rs2071565905
|
|
NM_001379110.1(SLC9A6):c.1871C>A (p.Ser624Tyr)
|
rs2071566010
|
|
NM_001379110.1(SLC9A6):c.1871C>G (p.Ser624Cys)
|
|
|
NM_001379110.1(SLC9A6):c.1875C>T (p.Ser625=)
|
rs782373596
|
|
NM_001379110.1(SLC9A6):c.1876G>A (p.Ala626Thr)
|
rs1556623211
|
|
NM_001379110.1(SLC9A6):c.1891A>G (p.Met631Val)
|
rs1556623217
|
|
NM_001379110.1(SLC9A6):c.1899C>T (p.Asn633=)
|
|
|
NM_001379110.1(SLC9A6):c.1900A>G (p.Ser634Gly)
|
rs2521485607
|
|
NM_001379110.1(SLC9A6):c.190dup (p.Leu64fs)
|
rs796053293
|
|
NM_001379110.1(SLC9A6):c.1921C>T (p.Arg641Trp)
|
rs2521485746
|
|
NM_001379110.1(SLC9A6):c.1934T>G (p.Phe645Cys)
|
rs2071567769
|
|
NM_001379110.1(SLC9A6):c.1938G>A (p.Gly646=)
|
rs2521485929
|
|
NM_001379110.1(SLC9A6):c.1939G>A (p.Asp647Asn)
|
rs2148217048
|
|
NM_001379110.1(SLC9A6):c.1940A>G (p.Asp647Gly)
|
|
|
NM_001379110.1(SLC9A6):c.1951G>A (p.Val651Ile)
|
rs2521486045
|
|
NM_001379110.1(SLC9A6):c.1953C>T (p.Val651=)
|
rs2071567975
|
|
NM_001379110.1(SLC9A6):c.1958G>T (p.Arg653Leu)
|
rs1177738754
|
|
NM_001379110.1(SLC9A6):c.1966C>T (p.Arg656Cys)
|
rs782140621
|
|
NM_001379110.1(SLC9A6):c.1992T>G (p.Ser664=)
|
rs782053418
|
|
NM_001379110.1(SLC9A6):c.1996C>T (p.Pro666Ser)
|
rs2071569462
|
|
NM_001379110.1(SLC9A6):c.2004A>G (p.Leu668=)
|
|
|
NM_001379110.1(SLC9A6):c.2011T>G (p.Leu671Val)
|
|
|
NM_001379110.1(SLC9A6):c.2012T>G (p.Leu671Ter)
|
rs587784399
|
|
NM_001379110.1(SLC9A6):c.2018A>G (p.Asn673Ser)
|
rs2071570215
|
|
NM_001379110.1(SLC9A6):c.2019T>C (p.Asn673=)
|
rs1603225936
|
|
NM_001379110.1(SLC9A6):c.2031T>A (p.Gly677=)
|
rs1603225948
|
|
NM_001379110.1(SLC9A6):c.206A>G (p.His69Arg)
|
rs1060502675
|
|
NM_001379110.1(SLC9A6):c.208G>T (p.Val70Phe)
|
rs1315183165
|
|
NM_001379110.1(SLC9A6):c.211C>G (p.Pro71Ala)
|
rs587784400
|
|
NM_001379110.1(SLC9A6):c.211C>T (p.Pro71Ser)
|
rs587784400
|
|
NM_001379110.1(SLC9A6):c.21C>T (p.Ser7=)
|
|
|
NM_001379110.1(SLC9A6):c.22G>C (p.Glu8Gln)
|
rs2148129792
|
|
NM_001379110.1(SLC9A6):c.239G>A (p.Ser80Asn)
|
rs1451637533
|
|
NM_001379110.1(SLC9A6):c.261A>G (p.Pro87=)
|
rs2148144184
|
|
NM_001379110.1(SLC9A6):c.27del (p.Lys9fs)
|
rs587784398
|
|
NM_001379110.1(SLC9A6):c.283A>G (p.Ser95Gly)
|
rs2521144142
|
|
NM_001379110.1(SLC9A6):c.284del (p.Ser95fs)
|
rs2521144179
|
|
NM_001379110.1(SLC9A6):c.290A>G (p.Lys97Arg)
|
rs2148144215
|
|
NM_001379110.1(SLC9A6):c.29A>G (p.Gln10Arg)
|
|
|
NM_001379110.1(SLC9A6):c.321T>C (p.Ile107=)
|
|
|
NM_001379110.1(SLC9A6):c.346C>T (p.Gln116Ter)
|
|
|
NM_001379110.1(SLC9A6):c.370-3C>T
|
rs2148149795
|
|
NM_001379110.1(SLC9A6):c.370-9_370-5del
|
rs796053290
|
|
NM_001379110.1(SLC9A6):c.370G>A (p.Val124Ile)
|
rs1556616820
|
|
NM_001379110.1(SLC9A6):c.370G>T (p.Val124Phe)
|
rs1556616820
|
|
NM_001379110.1(SLC9A6):c.372T>A (p.Val124=)
|
rs2148149814
|
|
NM_001379110.1(SLC9A6):c.393T>G (p.Phe131Leu)
|
rs1603198044
|
|
NM_001379110.1(SLC9A6):c.400A>G (p.Ile134Val)
|
rs2089531604
|
|
NM_001379110.1(SLC9A6):c.401T>A (p.Ile134Lys)
|
|
|
NM_001379110.1(SLC9A6):c.413C>A (p.Pro138His)
|
|
|
NM_001379110.1(SLC9A6):c.420A>G (p.Ile140Met)
|
rs1556616830
|
|
NM_001379110.1(SLC9A6):c.420_421del (p.Phe141fs)
|
rs1603198063
|
|
NM_001379110.1(SLC9A6):c.42C>T (p.Ser14=)
|
rs1057523594
|
|
NM_001379110.1(SLC9A6):c.442_444delinsC (p.Lys148fs)
|
rs2148149936
|
|
NM_001379110.1(SLC9A6):c.445del (p.Arg149fs)
|
rs2521178978
|
|
NM_001379110.1(SLC9A6):c.447+20A>C
|
rs2089532535
|
|
NM_001379110.1(SLC9A6):c.447+20A>G
|
rs2089532535
|
|
NM_001379110.1(SLC9A6):c.447+3_447+4delinsCC
|
rs730882187
|
|
NM_001379110.1(SLC9A6):c.448-1G>A
|
rs797044508
|
|
NM_001379110.1(SLC9A6):c.448-6del
|
rs375038684
|
|
NM_001379110.1(SLC9A6):c.448-6dup
|
rs375038684
|
|
NM_001379110.1(SLC9A6):c.448-7_448-6dup
|
rs375038684
|
|
NM_001379110.1(SLC9A6):c.448-8_448-7insG
|
rs782131315
|
|
NM_001379110.1(SLC9A6):c.448-9_459del
|
rs2521182259
|
|
NM_001379110.1(SLC9A6):c.450A>G (p.Arg150=)
|
rs1556616909
|
|
NM_001379110.1(SLC9A6):c.452A>C (p.His151Pro)
|
|
|
NM_001379110.1(SLC9A6):c.452_453del (p.His151fs)
|
rs730882188
|
|
NM_001379110.1(SLC9A6):c.454T>G (p.Phe152Val)
|
rs797044736
|
|
NM_001379110.1(SLC9A6):c.459T>C (p.Phe153=)
|
rs2521183135
|
|
NM_001379110.1(SLC9A6):c.459dup (p.Arg154fs)
|
|
|
NM_001379110.1(SLC9A6):c.460C>T (p.Arg154Ter)
|
|
|
NM_001379110.1(SLC9A6):c.465del (p.Ser158fs)
|
rs2089536867
|
|
NM_001379110.1(SLC9A6):c.471G>T (p.Gly157=)
|
rs1292220528
|
|
NM_001379110.1(SLC9A6):c.481G>T (p.Ala161Ser)
|
rs2521183715
|
|
NM_001379110.1(SLC9A6):c.487G>A (p.Ala163Thr)
|
rs796053281
|
|
NM_001379110.1(SLC9A6):c.492T>C (p.Phe164=)
|
rs2521183867
|
|
NM_001379110.1(SLC9A6):c.497G>A (p.Gly166Glu)
|
|
|
NM_001379110.1(SLC9A6):c.506T>A (p.Ile169Asn)
|
rs2521184115
|
|
NM_001379110.1(SLC9A6):c.512G>A (p.Cys171Tyr)
|
rs2521184143
|
|
NM_001379110.1(SLC9A6):c.524+5G>A
|
rs796053284
|
|
NM_001379110.1(SLC9A6):c.524+8_524+12del
|
rs782802858
|
|
NM_001379110.1(SLC9A6):c.525-13_525-10del
|
rs2148151047
|
|
NM_001379110.1(SLC9A6):c.529A>G (p.Ile177Val)
|
rs587784402
|
|
NM_001379110.1(SLC9A6):c.534G>A (p.Met178Ile)
|
rs186896302
|
|
NM_001379110.1(SLC9A6):c.539G>A (p.Gly180Asp)
|
rs2521188381
|
|
NM_001379110.1(SLC9A6):c.54C>T (p.Asp18=)
|
rs1220363660
|
|
NM_001379110.1(SLC9A6):c.559G>A (p.Val187Ile)
|
rs1556616995
|
|
NM_001379110.1(SLC9A6):c.55A>G (p.Ser19Gly)
|
rs2089324047
|
|
NM_001379110.1(SLC9A6):c.563C>T (p.Thr188Met)
|
rs372747388
|
|
NM_001379110.1(SLC9A6):c.565_583del (p.Gly189fs)
|
|
|
NM_001379110.1(SLC9A6):c.569A>G (p.Gln190Arg)
|
rs2521188813
|
|
NM_001379110.1(SLC9A6):c.570A>C (p.Gln190His)
|
|
|
NM_001379110.1(SLC9A6):c.574G>T (p.Ala192Ser)
|
rs2089542923
|
|
NM_001379110.1(SLC9A6):c.586T>C (p.Tyr196His)
|
rs2521189030
|
|
NM_001379110.1(SLC9A6):c.593C>G (p.Thr198Arg)
|
|
|
NM_001379110.1(SLC9A6):c.609T>C (p.Phe203=)
|
rs2521189382
|
|
NM_001379110.1(SLC9A6):c.609T>G (p.Phe203Leu)
|
rs2521189382
|
|
NM_001379110.1(SLC9A6):c.619G>T (p.Val207Leu)
|
|
|
NM_001379110.1(SLC9A6):c.622T>A (p.Ser208Thr)
|
rs2521189516
|
|
NM_001379110.1(SLC9A6):c.634C>G (p.Pro212Ala)
|
rs2148151197
|
|
NM_001379110.1(SLC9A6):c.637+16G>A
|
rs781893363
|
|
NM_001379110.1(SLC9A6):c.637+1G>A
|
rs1603198937
|
|
NM_001379110.1(SLC9A6):c.637+206dup
|
rs1241262472
|
|
NM_001379110.1(SLC9A6):c.638-10dup
|
rs2089592364
|
|
NM_001379110.1(SLC9A6):c.638-18A>C
|
rs373916408
|
|
NM_001379110.1(SLC9A6):c.638-1G>A
|
rs2148156504
|
|
NM_001379110.1(SLC9A6):c.638-2A>G
|
rs2521219756
|
|
NM_001379110.1(SLC9A6):c.638-8C>T
|
rs2148156491
|
|
NM_001379110.1(SLC9A6):c.657C>T (p.Phe219=)
|
rs2521219942
|
|
NM_001379110.1(SLC9A6):c.663G>A (p.Glu221=)
|
rs2521220038
|
|
NM_001379110.1(SLC9A6):c.679G>A (p.Glu227Lys)
|
rs2521220191
|
|
NM_001379110.1(SLC9A6):c.682C>T (p.Leu228Phe)
|
rs2148156546
|
|
NM_001379110.1(SLC9A6):c.691CTT[1] (p.Leu232del)
|
rs1603201557
|
|
NM_001379110.1(SLC9A6):c.704_709del (p.Glu235_Ser236del)
|
rs886037619
|
|
NM_001379110.1(SLC9A6):c.716A>G (p.Asn239Ser)
|
|
|
NM_001379110.1(SLC9A6):c.717T>C (p.Asn239=)
|
rs2089593239
|
|
NM_001379110.1(SLC9A6):c.726del (p.Ala243fs)
|
rs1057519394
|
|
NM_001379110.1(SLC9A6):c.731T>G (p.Ile244Arg)
|
rs1556617452
|
|
NM_001379110.1(SLC9A6):c.736C>T (p.Leu246=)
|
|
|
NM_001379110.1(SLC9A6):c.740C>T (p.Ser247Phe)
|
|
|
NM_001379110.1(SLC9A6):c.743+11_743+14del
|
|
|
NM_001379110.1(SLC9A6):c.743+1G>A
|
rs1556617455
|
|
NM_001379110.1(SLC9A6):c.743+2dup
|
rs1603201598
|
|
NM_001379110.1(SLC9A6):c.743+3_743+6del
|
rs2148156632
|
|
NM_001379110.1(SLC9A6):c.743C>T (p.Ser248Phe)
|
|
|
NM_001379110.1(SLC9A6):c.744-12T>C
|
rs1556618479
|
|
NM_001379110.1(SLC9A6):c.744-18G>A
|
|
|
NM_001379110.1(SLC9A6):c.744-208del
|
rs376254654
|
|
NM_001379110.1(SLC9A6):c.744-208dup
|
rs376254654
|
|
NM_001379110.1(SLC9A6):c.744-209_744-208dup
|
rs376254654
|
|
NM_001379110.1(SLC9A6):c.744-48dup
|
rs200585663
|
|
NM_001379110.1(SLC9A6):c.746C>T (p.Ser249Leu)
|
rs2521289517
|
|
NM_001379110.1(SLC9A6):c.750A>G (p.Ile250Met)
|
rs2521289602
|
|
NM_001379110.1(SLC9A6):c.766G>C (p.Ala256Pro)
|
rs782376733
|
|
NM_001379110.1(SLC9A6):c.775A>G (p.Asn259Asp)
|
rs2521289866
|
|
NM_001379110.1(SLC9A6):c.786C>T (p.Thr262=)
|
rs1393599406
|
|
NM_001379110.1(SLC9A6):c.797_798del (p.Thr266fs)
|
rs796053297
|
|
NM_001379110.1(SLC9A6):c.800C>T (p.Ala267Val)
|
|
|
NM_001379110.1(SLC9A6):c.803T>A (p.Met268Lys)
|
rs2148169885
|
|
NM_001379110.1(SLC9A6):c.803T>C (p.Met268Thr)
|
rs2148169885
|
|
NM_001379110.1(SLC9A6):c.806dup (p.Lys270fs)
|
rs2148169894
|
|
NM_001379110.1(SLC9A6):c.814A>G (p.Ile272Val)
|
rs2521290220
|
|
NM_001379110.1(SLC9A6):c.821T>C (p.Ile274Thr)
|
rs2521290342
|
|
NM_001379110.1(SLC9A6):c.825C>G (p.Phe275Leu)
|
rs797044779
|
|
NM_001379110.1(SLC9A6):c.828T>C (p.Leu276=)
|
rs2521290412
|
|
NM_001379110.1(SLC9A6):c.833T>G (p.Ile278Ser)
|
|
|
NM_001379110.1(SLC9A6):c.837C>T (p.Phe279=)
|
rs2521290502
|
|
NM_001379110.1(SLC9A6):c.841_842delinsAA (p.Gly281Lys)
|
|
|
NM_001379110.1(SLC9A6):c.856_864del (p.Gly286_Ala288del)
|
rs398122849
|
|
NM_001379110.1(SLC9A6):c.881C>T (p.Ala294Val)
|
|
|
NM_001379110.1(SLC9A6):c.885+14A>G
|
|
|
NM_001379110.1(SLC9A6):c.885+5C>T
|
rs2070901186
|
|
NM_001379110.1(SLC9A6):c.886-17A>G
|
rs2070950996
|
|
NM_001379110.1(SLC9A6):c.886-1C>A
|
rs149044510
|
|
NM_001379110.1(SLC9A6):c.886-1C>T
|
|
|
NM_001379110.1(SLC9A6):c.886-8A>G
|
rs2148173826
|
|
NM_001379110.1(SLC9A6):c.886G>A (p.Val296Met)
|
rs1556618832
|
|
NM_001379110.1(SLC9A6):c.897C>G (p.Phe299Leu)
|
rs2521308904
|
|
NM_001379110.1(SLC9A6):c.900C>T (p.Thr300=)
|
rs1057520676
|
|
NM_001379110.1(SLC9A6):c.902A>G (p.Lys301Arg)
|
rs2148173863
|
|
NM_001379110.1(SLC9A6):c.908G>T (p.Arg303Leu)
|
rs782263851
|
|
NM_001379110.1(SLC9A6):c.916C>T (p.Gln306Ter)
|
rs398124224
|
|
NM_001379110.1(SLC9A6):c.921G>C (p.Leu307Phe)
|
rs1556618846
|
|
NM_001379110.1(SLC9A6):c.932G>A (p.Gly311Asp)
|
rs2521309493
|
|
NM_001379110.1(SLC9A6):c.937_939delinsCTG (p.Phe313Leu)
|
|
|
NM_001379110.1(SLC9A6):c.953G>A (p.Trp318Ter)
|
rs2148173968
|
|
NM_001379110.1(SLC9A6):c.959C>G (p.Thr320Ser)
|
rs2148173982
|
|
NM_001379110.1(SLC9A6):c.960C>G (p.Thr320=)
|
rs1060504686
|
|
NM_001379110.1(SLC9A6):c.971C>T (p.Ala324Val)
|
rs2070952678
|
|
NM_001379110.1(SLC9A6):c.980G>A (p.Trp327Ter)
|
rs2521310108
|
|
NM_001379110.1(SLC9A6):c.982G>A (p.Gly328Ser)
|
rs1327086146
|
|
NM_001379110.1(SLC9A6):c.991+15C>G
|
rs2148174041
|
|
NM_001379110.1(SLC9A6):c.991+1G>A
|
rs2521310197
|
|
NM_001379110.1(SLC9A6):c.991G>C (p.Gly331Arg)
|
rs2148174022
|
|
NM_001379110.1(SLC9A6):c.992-3T>C
|
rs2070958568
|
|
NM_001379110.1(SLC9A6):c.992-4A>G
|
|
|
NM_001379110.1(SLC9A6):c.992G>A (p.Gly331Asp)
|
rs782108464
|
|
NM_006359.2(SLC9A6):c.509_510delGA
|
rs1064795183
|
|
NM_006359.2(SLC9A6):c.585dupG
|
rs796053291
|
|
SLC9A6, 1-BP INS, NT1464
|
|
|
SLC9A6, 3-BP DEL, NT1357
|
|
|
SLC9A6, TRP89ARG
|
|
|