NM_020686.6(ABAT):c.*2884T>C
|
rs10261
|
0.00480
|
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys)
|
rs77696190
|
0.00287
|
NM_020686.6(ABAT):c.*1814T>C
|
rs41312250
|
0.00200
|
NM_020686.6(ABAT):c.-52G>T
|
rs532269694
|
0.00198
|
NM_020686.6(ABAT):c.*1922G>A
|
rs116752370
|
0.00161
|
NM_020686.6(ABAT):c.*1319C>G
|
rs186937149
|
0.00138
|
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val)
|
rs150914629
|
0.00116
|
NM_020686.6(ABAT):c.*1416T>A
|
rs553436440
|
0.00104
|
NM_020686.6(ABAT):c.*435G>A
|
rs572396439
|
0.00071
|
NM_020686.6(ABAT):c.109G>A (p.Val37Ile)
|
rs140119176
|
0.00042
|
NM_020686.6(ABAT):c.*2070G>C
|
rs150364609
|
0.00040
|
NM_020686.6(ABAT):c.*2276G>C
|
rs552096436
|
0.00034
|
NM_020686.6(ABAT):c.-107G>A
|
rs531589337
|
0.00026
|
NM_020686.6(ABAT):c.*1704G>C
|
rs752676943
|
0.00021
|
NM_020686.6(ABAT):c.*1110A>C
|
rs886052437
|
0.00019
|
NM_020686.6(ABAT):c.*2352G>C
|
rs886052446
|
0.00019
|
NM_020686.6(ABAT):c.*2284A>C
|
rs984367608
|
0.00018
|
NM_020686.6(ABAT):c.*1142G>T
|
rs574524165
|
0.00017
|
NM_020686.6(ABAT):c.*1771C>G
|
rs543197540
|
0.00016
|
NM_020686.6(ABAT):c.*283T>C
|
rs142722977
|
0.00015
|
NM_020686.6(ABAT):c.1269+6A>G
|
rs372790444
|
0.00012
|
NM_020686.6(ABAT):c.*2642T>G
|
rs538092815
|
0.00011
|
NM_020686.6(ABAT):c.*2749T>C
|
rs542532328
|
0.00011
|
NM_020686.6(ABAT):c.*2783G>A
|
rs572474401
|
0.00011
|
NM_020686.6(ABAT):c.45G>C (p.Gln15His)
|
rs138270964
|
0.00010
|
NM_020686.6(ABAT):c.1158G>A (p.Pro386=)
|
rs374865268
|
0.00009
|
NM_020686.6(ABAT):c.1345A>G (p.Ile449Val)
|
rs147782370
|
0.00009
|
NM_020686.6(ABAT):c.26G>A (p.Arg9His)
|
rs531783337
|
0.00009
|
NM_020686.6(ABAT):c.*959T>A
|
rs750089237
|
0.00008
|
NM_020686.6(ABAT):c.*2300G>A
|
rs886052445
|
0.00007
|
NM_020686.6(ABAT):c.1430C>T (p.Thr477Met)
|
rs778305265
|
0.00007
|
NM_020686.6(ABAT):c.864C>T (p.Ala288=)
|
rs149855547
|
0.00007
|
NM_020686.6(ABAT):c.929G>A (p.Arg310Gln)
|
rs778974775
|
0.00007
|
NM_020686.6(ABAT):c.*416C>T
|
rs76000284
|
0.00006
|
NM_020686.6(ABAT):c.*717G>A
|
rs563004736
|
0.00006
|
NM_020686.6(ABAT):c.1202G>A (p.Arg401Gln)
|
rs187929750
|
0.00006
|
NM_020686.6(ABAT):c.1274G>A (p.Arg425Gln)
|
rs368127499
|
0.00006
|
NM_020686.6(ABAT):c.1282C>G (p.Gln428Glu)
|
rs746205242
|
0.00006
|
NM_020686.6(ABAT):c.190A>G (p.Ile64Val)
|
rs756209600
|
0.00006
|
NM_020686.6(ABAT):c.25C>T (p.Arg9Cys)
|
rs201701679
|
0.00006
|
NM_020686.6(ABAT):c.367-3C>T
|
rs367740820
|
0.00006
|
NM_020686.6(ABAT):c.419T>C (p.Val140Ala)
|
rs886052429
|
0.00006
|
NM_020686.6(ABAT):c.816+19G>A
|
rs147226856
|
0.00006
|
NM_020686.6(ABAT):c.668-3C>T
|
rs375716049
|
0.00005
|
NM_020686.6(ABAT):c.950G>A (p.Arg317Lys)
|
rs768443644
|
0.00005
|
NM_020686.6(ABAT):c.*1907A>G
|
rs886052442
|
0.00004
|
NM_020686.6(ABAT):c.*493C>T
|
rs781153961
|
0.00004
|
NM_020686.6(ABAT):c.-127C>G
|
rs937622924
|
0.00004
|
NM_020686.6(ABAT):c.1241C>T (p.Ala414Val)
|
rs771801237
|
0.00004
|
NM_020686.6(ABAT):c.1307G>A (p.Arg436Gln)
|
rs764665721
|
0.00004
|
NM_020686.6(ABAT):c.1387G>A (p.Val463Met)
|
rs757912430
|
0.00004
|
NM_020686.6(ABAT):c.19G>A (p.Ala7Thr)
|
rs141213694
|
0.00004
|
NM_020686.6(ABAT):c.316+3A>G
|
rs376810382
|
0.00004
|
NM_020686.6(ABAT):c.370A>G (p.Met124Val)
|
rs370414705
|
0.00004
|
NM_020686.6(ABAT):c.44A>T (p.Gln15Leu)
|
rs375337638
|
0.00004
|
NM_020686.6(ABAT):c.555G>A (p.Gly185=)
|
rs147765799
|
0.00004
|
NM_020686.6(ABAT):c.928C>T (p.Arg310Trp)
|
rs757076760
|
0.00004
|
NM_020686.6(ABAT):c.*1826C>T
|
rs886052441
|
0.00003
|
NM_020686.6(ABAT):c.*3059C>T
|
rs886052449
|
0.00003
|
NM_020686.6(ABAT):c.1123-15C>T
|
rs376574278
|
0.00003
|
NM_020686.6(ABAT):c.1157C>T (p.Pro386Leu)
|
rs775339966
|
0.00003
|
NM_020686.6(ABAT):c.1349G>A (p.Arg450Gln)
|
rs374692453
|
0.00003
|
NM_020686.6(ABAT):c.168+13C>T
|
rs759610129
|
0.00003
|
NM_020686.6(ABAT):c.331G>A (p.Ala111Thr)
|
rs150783272
|
0.00003
|
NM_020686.6(ABAT):c.561G>C (p.Arg187Ser)
|
rs141279192
|
0.00003
|
NM_020686.6(ABAT):c.56G>A (p.Arg19His)
|
rs780368959
|
0.00003
|
NM_020686.6(ABAT):c.678G>A (p.Ala226=)
|
rs112564762
|
0.00003
|
NM_020686.6(ABAT):c.708C>T (p.Ile236=)
|
rs778110660
|
0.00003
|
NM_020686.6(ABAT):c.771G>C (p.Glu257Asp)
|
rs369478103
|
0.00003
|
NM_020686.6(ABAT):c.857C>T (p.Thr286Met)
|
rs778229930
|
0.00003
|
NM_020686.6(ABAT):c.*2794C>G
|
rs886052447
|
0.00002
|
NM_020686.6(ABAT):c.*479C>T
|
rs886052435
|
0.00002
|
NM_020686.6(ABAT):c.1054G>A (p.Val352Met)
|
rs775462540
|
0.00002
|
NM_020686.6(ABAT):c.106G>A (p.Asp36Asn)
|
rs766849835
|
0.00002
|
NM_020686.6(ABAT):c.431G>A (p.Arg144Gln)
|
rs745491786
|
0.00002
|
NM_020686.6(ABAT):c.484G>A (p.Ala162Thr)
|
rs750911984
|
0.00002
|
NM_020686.6(ABAT):c.486C>T (p.Ala162=)
|
rs763045532
|
0.00002
|
NM_020686.6(ABAT):c.830T>C (p.Ile277Thr)
|
rs540071491
|
0.00002
|
NM_020686.6(ABAT):c.961T>C (p.Cys321Arg)
|
rs1458922038
|
0.00002
|
NM_020686.6(ABAT):c.*1393C>T
|
rs537653612
|
0.00001
|
NM_020686.6(ABAT):c.*1602G>A
|
rs1477666290
|
0.00001
|
NM_020686.6(ABAT):c.*1861C>A
|
rs549811316
|
0.00001
|
NM_020686.6(ABAT):c.*1862C>T
|
rs1406159963
|
0.00001
|
NM_020686.6(ABAT):c.*2089G>A
|
rs1166367154
|
0.00001
|
NM_020686.6(ABAT):c.*2193T>G
|
rs1045051678
|
0.00001
|
NM_020686.6(ABAT):c.*2712T>C
|
rs2060496519
|
0.00001
|
NM_020686.6(ABAT):c.*3020A>G
|
rs886052448
|
0.00001
|
NM_020686.6(ABAT):c.*942C>T
|
rs886052436
|
0.00001
|
NM_020686.6(ABAT):c.1018G>A (p.Ala340Thr)
|
rs2060223213
|
0.00001
|
NM_020686.6(ABAT):c.1057A>G (p.Met353Val)
|
rs760898650
|
0.00001
|
NM_020686.6(ABAT):c.1082C>G (p.Thr361Ser)
|
rs774473099
|
0.00001
|
NM_020686.6(ABAT):c.110T>C (p.Val37Ala)
|
rs373781844
|
0.00001
|
NM_020686.6(ABAT):c.1129C>T (p.Arg377Trp)
|
rs1330995774
|
0.00001
|
NM_020686.6(ABAT):c.1130G>A (p.Arg377Gln)
|
rs370489933
|
0.00001
|
NM_020686.6(ABAT):c.1207G>A (p.Asp403Asn)
|
rs751974207
|
0.00001
|
NM_020686.6(ABAT):c.1239G>C (p.Lys413Asn)
|
rs2060265382
|
0.00001
|
NM_020686.6(ABAT):c.1327G>A (p.Asp443Asn)
|
rs750680169
|
0.00001
|
NM_020686.6(ABAT):c.1348C>T (p.Arg450Trp)
|
rs748725086
|
0.00001
|
NM_020686.6(ABAT):c.1353T>A (p.Asn451Lys)
|
rs778319783
|
0.00001
|
NM_020686.6(ABAT):c.1381+6G>A
|
rs777241102
|
0.00001
|
NM_020686.6(ABAT):c.1412C>G (p.Ser471Cys)
|
rs768495738
|
0.00001
|
NM_020686.6(ABAT):c.1424G>A (p.Arg475His)
|
rs762137050
|
0.00001
|
NM_020686.6(ABAT):c.1429A>G (p.Thr477Ala)
|
rs1292109941
|
0.00001
|
NM_020686.6(ABAT):c.1431G>A (p.Thr477=)
|
rs573157071
|
0.00001
|
NM_020686.6(ABAT):c.158C>T (p.Pro53Leu)
|
rs903906856
|
0.00001
|
NM_020686.6(ABAT):c.168+3G>A
|
rs1294985666
|
0.00001
|
NM_020686.6(ABAT):c.169-6C>T
|
rs758166055
|
0.00001
|
NM_020686.6(ABAT):c.170A>C (p.Glu57Ala)
|
rs539748102
|
0.00001
|
NM_020686.6(ABAT):c.205G>A (p.Glu69Lys)
|
rs752701740
|
0.00001
|
NM_020686.6(ABAT):c.232G>A (p.Glu78Lys)
|
rs565305929
|
0.00001
|
NM_020686.6(ABAT):c.279G>A (p.Met93Ile)
|
rs1555490154
|
0.00001
|
NM_020686.6(ABAT):c.285T>C (p.Asp95=)
|
rs917180192
|
0.00001
|
NM_020686.6(ABAT):c.365C>T (p.Ala122Val)
|
rs761782312
|
0.00001
|
NM_020686.6(ABAT):c.387C>T (p.Pro129=)
|
rs759203240
|
0.00001
|
NM_020686.6(ABAT):c.451G>A (p.Ala151Thr)
|
rs1210477111
|
0.00001
|
NM_020686.6(ABAT):c.482T>G (p.Met161Arg)
|
rs1323737693
|
0.00001
|
NM_020686.6(ABAT):c.511G>A (p.Ala171Thr)
|
rs903118661
|
0.00001
|
NM_020686.6(ABAT):c.531G>C (p.Met177Ile)
|
rs779411867
|
0.00001
|
NM_020686.6(ABAT):c.538C>T (p.Arg180Trp)
|
rs746589996
|
0.00001
|
NM_020686.6(ABAT):c.543C>G (p.Ser181Arg)
|
rs144238624
|
0.00001
|
NM_020686.6(ABAT):c.587C>T (p.Thr196Met)
|
rs546024063
|
0.00001
|
NM_020686.6(ABAT):c.58C>G (p.Leu20Val)
|
rs747283357
|
0.00001
|
NM_020686.6(ABAT):c.592A>G (p.Met198Val)
|
rs200207185
|
0.00001
|
NM_020686.6(ABAT):c.603+6T>G
|
rs966081353
|
0.00001
|
NM_020686.6(ABAT):c.619G>A (p.Asp207Asn)
|
rs772498753
|
0.00001
|
NM_020686.6(ABAT):c.626G>A (p.Ser209Asn)
|
rs1457964207
|
0.00001
|
NM_020686.6(ABAT):c.64G>C (p.Val22Leu)
|
rs762710511
|
0.00001
|
NM_020686.6(ABAT):c.680C>G (p.Thr227Ser)
|
rs1223056561
|
0.00001
|
NM_020686.6(ABAT):c.740C>T (p.Pro247Leu)
|
rs776487124
|
0.00001
|
NM_020686.6(ABAT):c.770A>T (p.Glu257Val)
|
rs1377874387
|
0.00001
|
NM_020686.6(ABAT):c.783G>C (p.Glu261Asp)
|
rs777951918
|
0.00001
|
NM_020686.6(ABAT):c.803G>A (p.Arg268His)
|
rs570490857
|
0.00001
|
NM_020686.6(ABAT):c.841C>T (p.Arg281Trp)
|
rs755955325
|
0.00001
|
NM_020686.6(ABAT):c.874G>A (p.Val292Met)
|
rs747354047
|
0.00001
|
NM_020686.6(ABAT):c.916G>A (p.Asp306Asn)
|
rs544512086
|
0.00001
|
NM_020686.6(ABAT):c.964G>A (p.Ala322Thr)
|
rs201221998
|
0.00001
|
NM_020686.6(ABAT):c.978C>T (p.Asp326=)
|
rs201727625
|
0.00001
|
NM_020686.6(ABAT):c.991G>A (p.Gly331Arg)
|
rs1064796422
|
0.00001
|
NM_020686.6(ABAT):c.999C>T (p.Gly333=)
|
rs1353981722
|
0.00001
|
GRCh37/hg19 16p13.2(chr16:8741774-8798255)x1
|
|
|
GRCh37/hg19 16p13.2(chr16:8766187-8822840)x3
|
|
|
GRCh37/hg19 16p13.2(chr16:8772316-8836090)x3
|
|
|
NC_000016.10:g.(?_8764059)_(8781430_?)dup
|
|
|
NC_000016.9:g.(?_8829577)_(8875307_?)dup
|
|
|
NC_000016.9:g.(?_8829597)_(8829676_?)dup
|
|
|
NC_000016.9:g.(?_8829597)_(8829686_?)dup
|
|
|
NC_000016.9:g.(?_8829597)_(8839975_?)dup
|
|
|
NC_000016.9:g.(?_8829597)_(8844416_?)dup
|
|
|
NC_000016.9:g.(?_8829597)_(8858707_?)dup
|
|
|
NC_000016.9:g.(?_8829597)_(8862850_?)dup
|
|
|
NC_000016.9:g.(?_8829597)_(8875287_?)dup
|
|
|
NC_000016.9:g.(?_8857906)_(8858707_?)del
|
|
|
NC_000016.9:g.(?_8857906)_(8862850_?)del
|
|
|
NC_000016.9:g.(?_8873316)_(8875287_?)dup
|
|
|
NM_020686.5(ABAT):c.-150C>A
|
rs886052387
|
|
NM_020686.6(ABAT):c.*1051C>T
|
rs1275277312
|
|
NM_020686.6(ABAT):c.*1193G>T
|
rs755959210
|
|
NM_020686.6(ABAT):c.*1483G>T
|
rs139932869
|
|
NM_020686.6(ABAT):c.*1515_*1516dup
|
rs756127537
|
|
NM_020686.6(ABAT):c.*1516del
|
rs756127537
|
|
NM_020686.6(ABAT):c.*1593T>C
|
rs1061842
|
|
NM_020686.6(ABAT):c.*1698C>G
|
rs2060477590
|
|
NM_020686.6(ABAT):c.*1965C>T
|
rs553329538
|
|
NM_020686.6(ABAT):c.*1976C>A
|
rs886052443
|
|
NM_020686.6(ABAT):c.*1988C>T
|
rs886052444
|
|
NM_020686.6(ABAT):c.*2059C>A
|
rs2060484570
|
|
NM_020686.6(ABAT):c.*2308A>G
|
rs1039454012
|
|
NM_020686.6(ABAT):c.*259G>A
|
rs886052433
|
|
NM_020686.6(ABAT):c.*2698C>G
|
rs922229332
|
|
NM_020686.6(ABAT):c.*316A>C
|
rs1596475891
|
|
NM_020686.6(ABAT):c.*426C>T
|
rs2060446680
|
|
NM_020686.6(ABAT):c.*430C>T
|
rs886052434
|
|
NM_020686.6(ABAT):c.*578G>A
|
rs2060450686
|
|
NM_020686.6(ABAT):c.1004C>T (p.Thr335Met)
|
rs2060222738
|
|
NM_020686.6(ABAT):c.1027C>T (p.His343Tyr)
|
rs1280175936
|
|
NM_020686.6(ABAT):c.102A>C (p.Lys34Asn)
|
|
|
NM_020686.6(ABAT):c.1033G>A (p.Gly345Ser)
|
|
|
NM_020686.6(ABAT):c.1034G>A (p.Gly345Asp)
|
rs2142996825
|
|
NM_020686.6(ABAT):c.1036C>G (p.Leu346Val)
|
|
|
NM_020686.6(ABAT):c.1039G>A (p.Asp347Asn)
|
|
|
NM_020686.6(ABAT):c.1045C>T (p.Pro349Ser)
|
|
|
NM_020686.6(ABAT):c.1049C>A (p.Ala350Glu)
|
rs2060224233
|
|
NM_020686.6(ABAT):c.1058T>G (p.Met353Arg)
|
rs2060224524
|
|
NM_020686.6(ABAT):c.1075A>G (p.Met359Val)
|
rs2060225110
|
|
NM_020686.6(ABAT):c.1080G>A (p.Met360Ile)
|
rs2142996879
|
|
NM_020686.6(ABAT):c.108C>A (p.Asp36Glu)
|
rs751650520
|
|
NM_020686.6(ABAT):c.1092C>A (p.Phe364Leu)
|
|
|
NM_020686.6(ABAT):c.110T>G (p.Val37Gly)
|
rs373781844
|
|
NM_020686.6(ABAT):c.1123-14G>A
|
rs758870080
|
|
NM_020686.6(ABAT):c.1139A>G (p.Asn380Ser)
|
rs1555493454
|
|
NM_020686.6(ABAT):c.1140C>T (p.Asn380=)
|
rs770156912
|
|
NM_020686.6(ABAT):c.1148T>A (p.Leu383Gln)
|
rs2142998232
|
|
NM_020686.6(ABAT):c.1153G>T (p.Asp385Tyr)
|
rs2142998238
|
|
NM_020686.6(ABAT):c.1155C>A (p.Asp385Glu)
|
rs2142998239
|
|
NM_020686.6(ABAT):c.1163A>G (p.Lys388Arg)
|
|
|
NM_020686.6(ABAT):c.1168C>G (p.Leu390Val)
|
rs537999087
|
|
NM_020686.6(ABAT):c.1172T>C (p.Leu391Ser)
|
|
|
NM_020686.6(ABAT):c.1183G>A (p.Val395Ile)
|
rs1390975236
|
|
NM_020686.6(ABAT):c.1192A>C (p.Ile398Leu)
|
rs2060264213
|
|
NM_020686.6(ABAT):c.1208A>G (p.Asp403Gly)
|
rs1395351659
|
|
NM_020686.6(ABAT):c.1232C>A (p.Ala411Asp)
|
|
|
NM_020686.6(ABAT):c.1238A>G (p.Lys413Arg)
|
|
|
NM_020686.6(ABAT):c.1270G>A (p.Ala424Thr)
|
rs886052432
|
|
NM_020686.6(ABAT):c.1273C>T (p.Arg425Trp)
|
|
|
NM_020686.6(ABAT):c.1274G>T (p.Arg425Leu)
|
rs368127499
|
|
NM_020686.6(ABAT):c.1287C>A (p.Phe429Leu)
|
rs772526517
|
|
NM_020686.6(ABAT):c.1306C>T (p.Arg436Ter)
|
|
|
NM_020686.6(ABAT):c.1323del (p.Phe442fs)
|
rs2060370206
|
|
NM_020686.6(ABAT):c.1324T>G (p.Phe442Val)
|
rs2143002786
|
|
NM_020686.6(ABAT):c.1326C>A (p.Phe442Leu)
|
rs201566019
|
|
NM_020686.6(ABAT):c.1327G>C (p.Asp443His)
|
|
|
NM_020686.6(ABAT):c.1333C>T (p.Pro445Ser)
|
rs1345863425
|
|
NM_020686.6(ABAT):c.1336G>A (p.Asp446Asn)
|
|
|
NM_020686.6(ABAT):c.1354A>T (p.Lys452Ter)
|
rs1596474539
|
|
NM_020686.6(ABAT):c.1356G>T (p.Lys452Asn)
|
rs1219517329
|
|
NM_020686.6(ABAT):c.1363T>G (p.Leu455Val)
|
rs1555493999
|
|
NM_020686.6(ABAT):c.1366A>G (p.Ile456Val)
|
rs1485966037
|
|
NM_020686.6(ABAT):c.1367T>C (p.Ile456Thr)
|
|
|
NM_020686.6(ABAT):c.1369G>A (p.Ala457Thr)
|
|
|
NM_020686.6(ABAT):c.1370C>T (p.Ala457Val)
|
rs769027199
|
|
NM_020686.6(ABAT):c.1381+1G>T
|
|
|
NM_020686.6(ABAT):c.1381+6G>T
|
rs777241102
|
|
NM_020686.6(ABAT):c.1384G>A (p.Val462Met)
|
|
|
NM_020686.6(ABAT):c.1389G>A (p.Val463=)
|
rs2060432508
|
|
NM_020686.6(ABAT):c.1394G>A (p.Gly465Asp)
|
rs1057523345
|
|
NM_020686.6(ABAT):c.1407C>G (p.Asp469Glu)
|
|
|
NM_020686.6(ABAT):c.1410_1411delinsGA (p.Ser471Thr)
|
rs1596475613
|
|
NM_020686.6(ABAT):c.1417C>T (p.Arg473Cys)
|
|
|
NM_020686.6(ABAT):c.1421T>G (p.Phe474Cys)
|
rs1280757572
|
|
NM_020686.6(ABAT):c.1423C>T (p.Arg475Cys)
|
|
|
NM_020686.6(ABAT):c.1435G>T (p.Val479Phe)
|
rs1555494309
|
|
NM_020686.6(ABAT):c.143C>T (p.Thr48Met)
|
|
|
NM_020686.6(ABAT):c.1449C>A (p.His483Gln)
|
|
|
NM_020686.6(ABAT):c.1453G>A (p.Ala485Thr)
|
|
|
NM_020686.6(ABAT):c.1454C>G (p.Ala485Gly)
|
|
|
NM_020686.6(ABAT):c.1459C>G (p.Leu487Val)
|
|
|
NM_020686.6(ABAT):c.1492G>A (p.Asp498Asn)
|
|
|
NM_020686.6(ABAT):c.1498A>G (p.Lys500Glu)
|
|
|
NM_020686.6(ABAT):c.14T>G (p.Leu5Trp)
|
rs1346245434
|
|
NM_020686.6(ABAT):c.1501_*2del (p.Ter501LysextTer?)
|
rs756457894
|
|
NM_020686.6(ABAT):c.163T>C (p.Ser55Pro)
|
rs2059320233
|
|
NM_020686.6(ABAT):c.168+5G>T
|
rs539641450
|
|
NM_020686.6(ABAT):c.168+6T>A
|
rs2059320859
|
|
NM_020686.6(ABAT):c.169-5T>A
|
|
|
NM_020686.6(ABAT):c.199A>T (p.Asn67Tyr)
|
|
|
NM_020686.6(ABAT):c.1A>G (p.Met1Val)
|
rs1160815812
|
|
NM_020686.6(ABAT):c.208G>T (p.Ala70Ser)
|
rs540109350
|
|
NM_020686.6(ABAT):c.214C>A (p.His72Asn)
|
|
|
NM_020686.6(ABAT):c.224G>T (p.Cys75Phe)
|
|
|
NM_020686.6(ABAT):c.226A>G (p.Asn76Asp)
|
|
|
NM_020686.6(ABAT):c.236A>T (p.Glu79Val)
|
rs1596454363
|
|
NM_020686.6(ABAT):c.307G>T (p.Val103Phe)
|
rs2142726624
|
|
NM_020686.6(ABAT):c.314T>C (p.Ile105Thr)
|
rs1596454443
|
|
NM_020686.6(ABAT):c.317-5C>G
|
rs781499078
|
|
NM_020686.6(ABAT):c.323G>A (p.Ser108Asn)
|
|
|
NM_020686.6(ABAT):c.328C>T (p.Pro110Ser)
|
rs2142848668
|
|
NM_020686.6(ABAT):c.332C>A (p.Ala111Asp)
|
rs771274821
|
|
NM_020686.6(ABAT):c.366G>A (p.Ala122=)
|
rs866554267
|
|
NM_020686.6(ABAT):c.42C>G (p.Phe14Leu)
|
rs1567293995
|
|
NM_020686.6(ABAT):c.434A>T (p.Gln145Leu)
|
|
|
NM_020686.6(ABAT):c.437C>T (p.Ser146Phe)
|
|
|
NM_020686.6(ABAT):c.441G>C (p.Leu147Phe)
|
rs747914194
|
|
NM_020686.6(ABAT):c.442C>T (p.Leu148Phe)
|
|
|
NM_020686.6(ABAT):c.446C>G (p.Ser149Trp)
|
rs374113959
|
|
NM_020686.6(ABAT):c.446C>T (p.Ser149Leu)
|
rs374113959
|
|
NM_020686.6(ABAT):c.447G>A (p.Ser149=)
|
|
|
NM_020686.6(ABAT):c.447G>C (p.Ser149=)
|
rs376531387
|
|
NM_020686.6(ABAT):c.447G>T (p.Ser149=)
|
rs376531387
|
|
NM_020686.6(ABAT):c.448-18C>T
|
rs2142927888
|
|
NM_020686.6(ABAT):c.458A>G (p.Lys153Arg)
|
rs2142928367
|
|
NM_020686.6(ABAT):c.493T>G (p.Ser165Ala)
|
|
|
NM_020686.6(ABAT):c.502A>G (p.Asn168Asp)
|
rs1596464782
|
|
NM_020686.6(ABAT):c.503A>G (p.Asn168Ser)
|
rs757056947
|
|
NM_020686.6(ABAT):c.531G>A (p.Met177Ile)
|
|
|
NM_020686.6(ABAT):c.535T>A (p.Tyr179Asn)
|
|
|
NM_020686.6(ABAT):c.539G>A (p.Arg180Gln)
|
rs776431473
|
|
NM_020686.6(ABAT):c.540+14CA[13]
|
rs35745596
|
|
NM_020686.6(ABAT):c.540+14CA[14]
|
rs35745596
|
|
NM_020686.6(ABAT):c.540+5G>T
|
rs2059896686
|
|
NM_020686.6(ABAT):c.55C>A (p.Arg19Ser)
|
rs77696190
|
|
NM_020686.6(ABAT):c.560G>C (p.Arg187Thr)
|
rs1156477140
|
|
NM_020686.6(ABAT):c.563G>C (p.Gly188Ala)
|
|
|
NM_020686.6(ABAT):c.56G>T (p.Arg19Leu)
|
rs780368959
|
|
NM_020686.6(ABAT):c.572A>T (p.Gln191Leu)
|
|
|
NM_020686.6(ABAT):c.583G>C (p.Glu195Gln)
|
rs1596465746
|
|
NM_020686.6(ABAT):c.589T>A (p.Cys197Ser)
|
rs1567311566
|
|
NM_020686.6(ABAT):c.604G>T (p.Ala202Ser)
|
rs756890572
|
|
NM_020686.6(ABAT):c.616C>T (p.Pro206Ser)
|
rs2142971411
|
|
NM_020686.6(ABAT):c.61C>G (p.Leu21Val)
|
|
|
NM_020686.6(ABAT):c.625A>G (p.Ser209Gly)
|
rs2060001644
|
|
NM_020686.6(ABAT):c.643G>A (p.Gly215Ser)
|
rs762050203
|
|
NM_020686.6(ABAT):c.645C>A (p.Gly215=)
|
rs1139522
|
|
NM_020686.6(ABAT):c.645C>T (p.Gly215=)
|
rs1139522
|
|
NM_020686.6(ABAT):c.646G>A (p.Ala216Thr)
|
|
|
NM_020686.6(ABAT):c.64_66del (p.Val22del)
|
rs1412155029
|
|
NM_020686.6(ABAT):c.65T>A (p.Val22Glu)
|
|
|
NM_020686.6(ABAT):c.665T>C (p.Met222Thr)
|
|
|
NM_020686.6(ABAT):c.667+7_667+8dup
|
rs748783252
|
|
NM_020686.6(ABAT):c.677C>G (p.Ala226Gly)
|
|
|
NM_020686.6(ABAT):c.677C>T (p.Ala226Val)
|
rs372807667
|
|
NM_020686.6(ABAT):c.678G>C (p.Ala226=)
|
rs112564762
|
|
NM_020686.6(ABAT):c.683C>T (p.Thr228Met)
|
rs1174585175
|
|
NM_020686.6(ABAT):c.689C>G (p.Ser230Cys)
|
|
|
NM_020686.6(ABAT):c.68C>A (p.Pro23His)
|
rs369376388
|
|
NM_020686.6(ABAT):c.693A>T (p.Lys231Asn)
|
|
|
NM_020686.6(ABAT):c.70+6C>A
|
rs369944447
|
|
NM_020686.6(ABAT):c.706A>G (p.Ile236Val)
|
rs2142977210
|
|
NM_020686.6(ABAT):c.70G>A (p.Gly24Arg)
|
|
|
NM_020686.6(ABAT):c.731C>T (p.Pro244Leu)
|
|
|
NM_020686.6(ABAT):c.733A>G (p.Ile245Val)
|
|
|
NM_020686.6(ABAT):c.736G>A (p.Ala246Thr)
|
|
|
NM_020686.6(ABAT):c.736G>C (p.Ala246Pro)
|
rs768632370
|
|
NM_020686.6(ABAT):c.748C>G (p.Arg250Gly)
|
|
|
NM_020686.6(ABAT):c.749G>A (p.Arg250Gln)
|
rs375002262
|
|
NM_020686.6(ABAT):c.749G>T (p.Arg250Leu)
|
rs375002262
|
|
NM_020686.6(ABAT):c.74C>G (p.Ser25Cys)
|
|
|
NM_020686.6(ABAT):c.761C>T (p.Pro254Leu)
|
rs2060022335
|
|
NM_020686.6(ABAT):c.772T>C (p.Phe258Leu)
|
rs1179196079
|
|
NM_020686.6(ABAT):c.77G>C (p.Arg26Thr)
|
rs2142623083
|
|
NM_020686.6(ABAT):c.79C>A (p.His27Asn)
|
|
|
NM_020686.6(ABAT):c.806G>A (p.Cys269Tyr)
|
|
|
NM_020686.6(ABAT):c.842G>A (p.Arg281Gln)
|
|
|
NM_020686.6(ABAT):c.844A>G (p.Lys282Glu)
|
rs2142993736
|
|
NM_020686.6(ABAT):c.848AGA[2] (p.Lys285del)
|
rs748632743
|
|
NM_020686.6(ABAT):c.866_874dup (p.Gly289_Ile291dup)
|
rs2060152853
|
|
NM_020686.6(ABAT):c.871A>G (p.Ile291Val)
|
|
|
NM_020686.6(ABAT):c.892G>A (p.Glu298Lys)
|
rs1443323102
|
|
NM_020686.6(ABAT):c.8C>A (p.Ser3Tyr)
|
|
|
NM_020686.6(ABAT):c.933G>C (p.Lys311Asn)
|
rs886043117
|
|
NM_020686.6(ABAT):c.938G>C (p.Arg313Thr)
|
rs2142993864
|
|
NM_020686.6(ABAT):c.957T>G (p.His319Gln)
|
rs886052431
|
|
NM_020686.6(ABAT):c.959G>T (p.Gly320Val)
|
|
|
NM_020686.6(ABAT):c.972G>T (p.Leu324Phe)
|
|
|
NM_020686.6(ABAT):c.979G>A (p.Glu327Lys)
|
|
|
NM_020686.6(ABAT):c.997G>C (p.Gly333Arg)
|
|
|