ClinVar Miner

List of variants in gene ABAT studied for amino acid metabolism disease

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 688
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HGVS dbSNP gnomAD frequency
NM_020686.6(ABAT):c.668-90T>C rs1273407 0.99996
NM_020686.6(ABAT):c.*1933T>C rs4985036 0.92763
NM_020686.6(ABAT):c.667+99C>T rs8049072 0.87870
NM_020686.6(ABAT):c.667+120del rs33948976 0.86768
NM_020686.6(ABAT):c.448-15T>A rs2302608 0.86261
NM_020686.6(ABAT):c.*2114G>A rs11648372 0.62549
NM_020686.6(ABAT):c.*990G>C rs4985000 0.62271
NM_020686.6(ABAT):c.*2567C>G rs12597124 0.62254
NM_020686.6(ABAT):c.*1131G>A rs7205816 0.54125
NM_020686.6(ABAT):c.167A>G (p.Gln56Arg) rs1731017 0.53047
NM_020686.6(ABAT):c.366+104C>T rs12930438 0.52142
NM_020686.6(ABAT):c.169-5T>C rs1641010 0.49394
NM_020686.6(ABAT):c.1381+46C>T rs1079349 0.47341
NM_020686.6(ABAT):c.*915C>G rs3743801 0.41460
NM_020686.6(ABAT):c.*512G>A rs3743798 0.39781
NM_020686.6(ABAT):c.*476T>C rs1731071 0.37627
NM_020686.6(ABAT):c.*574A>G rs1641032 0.37580
NM_020686.6(ABAT):c.*571A>C rs1641031 0.37567
NM_020686.6(ABAT):c.70+49T>C rs1640998 0.34626
NM_020686.6(ABAT):c.1381+9T>C rs1079348 0.33159
NM_020686.6(ABAT):c.984C>A (p.Val328=) rs1641022 0.32625
NM_020686.6(ABAT):c.*258G>C rs737695 0.31975
NM_020686.6(ABAT):c.*1405C>T rs7201586 0.26539
NM_020686.6(ABAT):c.*2304T>A rs9456 0.14101
NM_020686.6(ABAT):c.*1558G>A rs45515994 0.14096
NM_020686.6(ABAT):c.*2545C>T rs8275 0.14070
NM_020686.6(ABAT):c.*1575A>G rs45615432 0.14064
NM_020686.6(ABAT):c.*244C>A rs2270289 0.13709
NM_020686.6(ABAT):c.309C>T (p.Val103=) rs2229157 0.09544
NM_020686.6(ABAT):c.1270-4A>G rs12447235 0.07354
NM_020686.6(ABAT):c.*1210T>C rs17674530 0.05905
NM_020686.6(ABAT):c.*1333A>G rs17566580 0.04725
NM_020686.6(ABAT):c.*298C>T rs737694 0.04305
NM_020686.6(ABAT):c.129G>A (p.Gly43=) rs2228081 0.03085
NM_020686.6(ABAT):c.1147C>T (p.Leu383=) rs2229158 0.02911
NM_020686.6(ABAT):c.*1501A>G rs17651562 0.02340
NM_020686.6(ABAT):c.*1819G>A rs78819878 0.01479
NM_020686.6(ABAT):c.*318T>C rs78352097 0.01478
NM_020686.6(ABAT):c.*99G>C rs76717569 0.01330
NM_020686.6(ABAT):c.168+12A>G rs75151311 0.00925
NM_020686.6(ABAT):c.603+3G>A rs41312254 0.00925
NM_020686.6(ABAT):c.1269+4A>C rs183947905 0.00716
NM_020686.6(ABAT):c.*31C>T rs147333757 0.00712
NM_020686.6(ABAT):c.*1202G>A rs75730008 0.00704
NM_020686.6(ABAT):c.954+16C>T rs41311266 0.00550
NM_020686.6(ABAT):c.*2884T>C rs10261 0.00480
NM_020686.6(ABAT):c.*1075C>T rs117516993 0.00462
NM_020686.6(ABAT):c.1452C>T (p.His484=) rs61730647 0.00407
NM_020686.6(ABAT):c.816+7C>A rs376046736 0.00332
NM_020686.6(ABAT):c.817-6A>G rs140106845 0.00319
NM_020686.6(ABAT):c.366+11G>T rs141893184 0.00318
NM_020686.6(ABAT):c.*32G>A rs737696 0.00296
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys) rs77696190 0.00287
NM_020686.6(ABAT):c.641T>C (p.Met214Thr) rs149271402 0.00219
NM_020686.6(ABAT):c.*204A>G rs141010230 0.00205
NM_020686.6(ABAT):c.*1814T>C rs41312250 0.00200
NM_020686.6(ABAT):c.30G>A (p.Leu10=) rs34813662 0.00200
NM_020686.6(ABAT):c.-52G>T rs532269694 0.00198
NM_020686.6(ABAT):c.*2744G>C rs192892941 0.00171
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.366+10G>A rs61307956 0.00097
NM_020686.6(ABAT):c.*2986T>C rs79763179 0.00071
NM_020686.6(ABAT):c.*435G>A rs572396439 0.00071
NM_020686.6(ABAT):c.*2629G>A rs186857840 0.00065
NM_020686.6(ABAT):c.448-20G>A rs200644195 0.00065
NM_020686.6(ABAT):c.267C>T (p.Asp89=) rs199666932 0.00057
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.684G>A (p.Thr228=) rs148143485 0.00030
NM_020686.6(ABAT):c.-107G>A rs531589337 0.00026
NM_020686.6(ABAT):c.955-19C>T rs200209214 0.00026
NM_020686.6(ABAT):c.*1704G>C rs752676943 0.00021
NM_020686.6(ABAT):c.*989T>C rs533930699 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.393C>T (p.Leu131=) rs139142171 0.00017
NM_020686.6(ABAT):c.540+15A>G rs773662763 0.00017
NM_020686.6(ABAT):c.*1771C>G rs543197540 0.00016
NM_020686.6(ABAT):c.1270-14T>C rs200844116 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.735C>T (p.Ile245=) rs367831947 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.408G>A (p.Pro136=) rs149959823 0.00011
NM_020686.6(ABAT):c.45G>C (p.Gln15His) rs138270964 0.00010
NM_020686.6(ABAT):c.489C>T (p.Cys163=) rs200627621 0.00010
NM_020686.6(ABAT):c.741G>A (p.Pro247=) rs201170840 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.1392G>A (p.Leu464=) rs140054038 0.00009
NM_020686.6(ABAT):c.26G>A (p.Arg9His) rs531783337 0.00009
NM_020686.6(ABAT):c.748C>T (p.Arg250Trp) rs201397255 0.00009
NM_020686.6(ABAT):c.858G>A (p.Thr286=) rs375480247 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.1488A>G (p.Leu496=) rs772187224 0.00007
NM_020686.6(ABAT):c.330C>T (p.Pro110=) rs142857998 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.955-7C>T rs771443083 0.00007
NM_020686.6(ABAT):c.*2074A>C rs191157077 0.00006
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.541-9T>C rs774934344 0.00006
NM_020686.6(ABAT):c.816+19G>A rs147226856 0.00006
NM_020686.6(ABAT):c.1278C>T (p.Tyr426=) rs372283568 0.00005
NM_020686.6(ABAT):c.668-3C>T rs375716049 0.00005
NM_020686.6(ABAT):c.70+9C>T rs374147109 0.00005
NM_020686.6(ABAT):c.950G>A (p.Arg317Lys) rs768443644 0.00005
NM_020686.6(ABAT):c.954+17G>A rs896794473 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.*539C>T rs548945558 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.1254A>T (p.Gly418=) rs140640183 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.510C>T (p.Asn170=) rs141981377 0.00004
NM_020686.6(ABAT):c.555G>A (p.Gly185=) rs147765799 0.00004
NM_020686.6(ABAT):c.667+18C>T rs756875305 0.00004
NM_020686.6(ABAT):c.801C>T (p.Ala267=) rs377220277 0.00004
NM_020686.6(ABAT):c.816+18C>T rs770606061 0.00004
NM_020686.6(ABAT):c.817-15C>A rs761188607 0.00004
NM_020686.6(ABAT):c.928C>T (p.Arg310Trp) rs757076760 0.00004
NM_020686.6(ABAT):c.963C>T (p.Cys321=) rs375537349 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.1053C>T (p.Asp351=) rs772233141 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.317-8G>C rs747682160 0.00003
NM_020686.6(ABAT):c.331G>A (p.Ala111Thr) rs150783272 0.00003
NM_020686.6(ABAT):c.447+13G>A rs200598762 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.70+10G>A rs553745013 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.909C>T (p.His303=) rs532330605 0.00003
NM_020686.6(ABAT):c.990C>T (p.Thr330=) rs369874487 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.1062C>T (p.Thr354=) rs772989994 0.00002
NM_020686.6(ABAT):c.106G>A (p.Asp36Asn) rs766849835 0.00002
NM_020686.6(ABAT):c.1113G>A (p.Arg371=) rs1000294391 0.00002
NM_020686.6(ABAT):c.199-9T>A rs767501137 0.00002
NM_020686.6(ABAT):c.367-11C>T rs368243612 0.00002
NM_020686.6(ABAT):c.431G>A (p.Arg144Gln) rs745491786 0.00002
NM_020686.6(ABAT):c.462G>C (p.Gly154=) rs892963068 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.618C>T (p.Pro206=) rs373357773 0.00002
NM_020686.6(ABAT):c.667+15T>C rs753309345 0.00002
NM_020686.6(ABAT):c.70+12G>A rs760345321 0.00002
NM_020686.6(ABAT):c.830T>C (p.Ile277Thr) rs540071491 0.00002
NM_020686.6(ABAT):c.873C>T (p.Ile291=) rs775338476 0.00002
NM_020686.6(ABAT):c.961T>C (p.Cys321Arg) rs1458922038 0.00002
NM_020686.6(ABAT):c.*1311C>A rs532670980 0.00001
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.1005G>A (p.Thr335=) rs557375445 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.1089C>T (p.Gly363=) rs767008763 0.00001
NM_020686.6(ABAT):c.110T>C (p.Val37Ala) rs373781844 0.00001
NM_020686.6(ABAT):c.1125C>G (p.Pro375=) rs755056622 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.1191C>T (p.Asn397=) rs764870964 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.1269+7C>T rs751971295 0.00001
NM_020686.6(ABAT):c.1311C>T (p.Gly437=) rs1481554008 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.1491A>G (p.Ala497=) rs1290355155 0.00001
NM_020686.6(ABAT):c.153A>C (p.Pro51=) rs1368430890 0.00001
NM_020686.6(ABAT):c.156G>A (p.Gly52=) rs955478669 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.169-2A>G rs939876800 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.18C>T (p.Leu6=) rs766349160 0.00001
NM_020686.6(ABAT):c.199-7C>T rs1488250705 0.00001
NM_020686.6(ABAT):c.205G>A (p.Glu69Lys) rs752701740 0.00001
NM_020686.6(ABAT):c.231C>T (p.Tyr77=) rs746154029 0.00001
NM_020686.6(ABAT):c.232G>A (p.Glu78Lys) rs565305929 0.00001
NM_020686.6(ABAT):c.249T>C (p.Asn83=) rs564543173 0.00001
NM_020686.6(ABAT):c.275G>A (p.Arg92Gln) rs724159992 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.316+19T>C rs1278852788 0.00001
NM_020686.6(ABAT):c.317-11C>T rs779744741 0.00001
NM_020686.6(ABAT):c.317-18A>G rs2059688012 0.00001
NM_020686.6(ABAT):c.365C>T (p.Ala122Val) rs761782312 0.00001
NM_020686.6(ABAT):c.366+13G>T rs769166673 0.00001
NM_020686.6(ABAT):c.387C>T (p.Pro129=) rs759203240 0.00001
NM_020686.6(ABAT):c.399C>T (p.Ile133=) rs1272415972 0.00001
NM_020686.6(ABAT):c.448-11C>G rs771506614 0.00001
NM_020686.6(ABAT):c.448-5C>A rs374659543 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.525C>T (p.Ile175=) rs1382391739 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.540+13_540+14dup rs765389727 0.00001
NM_020686.6(ABAT):c.541-10A>G rs771274045 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.60G>A (p.Leu20=) rs768798452 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.638T>G (p.Phe213Cys) rs1567312671 0.00001
NM_020686.6(ABAT):c.648G>A (p.Ala216=) rs767550217 0.00001
NM_020686.6(ABAT):c.64G>C (p.Val22Leu) rs762710511 0.00001
NM_020686.6(ABAT):c.657G>C (p.Gly219=) rs1245557067 0.00001
NM_020686.6(ABAT):c.667+20C>T rs376506551 0.00001
NM_020686.6(ABAT):c.680C>G (p.Thr227Ser) rs1223056561 0.00001
NM_020686.6(ABAT):c.70+13G>T rs1282229987 0.00001
NM_020686.6(ABAT):c.70+20A>C rs763704300 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.789A>G (p.Gln263=) rs749392643 0.00001
NM_020686.6(ABAT):c.803G>A (p.Arg268His) rs570490857 0.00001
NM_020686.6(ABAT):c.817-5T>A rs1424382157 0.00001
NM_020686.6(ABAT):c.840T>C (p.Tyr280=) rs1596470323 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.954+12G>A rs372226894 0.00001
NM_020686.6(ABAT):c.955-14T>G rs375655134 0.00001
NM_020686.6(ABAT):c.964G>A (p.Ala322Thr) rs201221998 0.00001
NM_020686.6(ABAT):c.975G>A (p.Val325=) rs761480429 0.00001
NM_020686.6(ABAT):c.978C>T (p.Asp326=) rs201727625 0.00001
NM_020686.6(ABAT):c.999C>T (p.Gly333=) rs1353981722 0.00001
ABAT, 3-PRIME DELETION
GRCh37/hg19 16p13.2(chr16:8841965-8851663)
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.(?_8839838)_(8870367_?)del
NC_000016.9:g.(?_8844259)_(8875287_?)del
NC_000016.9:g.(?_8851594)_(8862850_?)dup
NC_000016.9:g.(?_8857906)_(8858707_?)del
NC_000016.9:g.(?_8857906)_(8862850_?)del
NC_000016.9:g.(?_8873316)_(8875287_?)dup
NM_000663.4(ABAT):c.199-?_316+?del
NM_000663.5:c.199_316del
NM_020686.5(ABAT):c.-150C>A rs886052387
NM_020686.6(ABAT):c.*1051C>T rs1275277312
NM_020686.6(ABAT):c.*1133G>A rs77110218
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>A rs1061842
NM_020686.6(ABAT):c.*1593T>C rs1061842
NM_020686.6(ABAT):c.*165A>T rs55638039
NM_020686.6(ABAT):c.*1698C>G rs2060477590
NM_020686.6(ABAT):c.*1765TTCA[2] rs148513949
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.*242G>T rs2270288
NM_020686.6(ABAT):c.*259G>A rs886052433
NM_020686.6(ABAT):c.*2698C>G rs922229332
NM_020686.6(ABAT):c.*3039del rs766850207
NM_020686.6(ABAT):c.*3110_*3113del rs147433667
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.1034G>A (p.Gly345Asp) rs2142996825
NM_020686.6(ABAT):c.1036C>G (p.Leu346Val)
NM_020686.6(ABAT):c.1036C>T (p.Leu346=)
NM_020686.6(ABAT):c.1039G>A (p.Asp347Asn)
NM_020686.6(ABAT):c.1045C>T (p.Pro349Ser)
NM_020686.6(ABAT):c.1047A>G (p.Pro349=) rs761184958
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.108C>T (p.Asp36=) rs751650520
NM_020686.6(ABAT):c.1092C>A (p.Phe364Leu)
NM_020686.6(ABAT):c.1094_1097dup (p.Lys367fs)
NM_020686.6(ABAT):c.1122+11G>C
NM_020686.6(ABAT):c.1122+12C>T
NM_020686.6(ABAT):c.1123-14G>A rs758870080
NM_020686.6(ABAT):c.1123-14G>T
NM_020686.6(ABAT):c.1123-15C>G rs376574278
NM_020686.6(ABAT):c.1123-18A>G
NM_020686.6(ABAT):c.1123-1G>A rs1596472500
NM_020686.6(ABAT):c.1123-20A>C
NM_020686.6(ABAT):c.1125C>T (p.Pro375=)
NM_020686.6(ABAT):c.1128C>G (p.Tyr376Ter)
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.1152G>T (p.Gly384=)
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.1158G>T (p.Pro386=)
NM_020686.6(ABAT):c.1163A>G (p.Lys388Arg)
NM_020686.6(ABAT):c.1168C>G (p.Leu390Val) rs537999087
NM_020686.6(ABAT):c.1168C>T (p.Leu390=)
NM_020686.6(ABAT):c.1170G>C (p.Leu390=)
NM_020686.6(ABAT):c.1170G>T (p.Leu390=) rs1216400203
NM_020686.6(ABAT):c.1172T>C (p.Leu391Ser)
NM_020686.6(ABAT):c.1182G>A (p.Glu394=)
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.1194C>T (p.Ile398=)
NM_020686.6(ABAT):c.1208A>G (p.Asp403Gly) rs1395351659
NM_020686.6(ABAT):c.1210C>T (p.Leu404=) rs1256407713
NM_020686.6(ABAT):c.1227C>A (p.Ala409=)
NM_020686.6(ABAT):c.1232C>A (p.Ala411Asp)
NM_020686.6(ABAT):c.1233C>A (p.Ala411=)
NM_020686.6(ABAT):c.1233C>G (p.Ala411=) rs147188899
NM_020686.6(ABAT):c.1233C>T (p.Ala411=) rs147188899
NM_020686.6(ABAT):c.1238A>G (p.Lys413Arg)
NM_020686.6(ABAT):c.1248C>T (p.Leu416=)
NM_020686.6(ABAT):c.1260G>A (p.Leu420=)
NM_020686.6(ABAT):c.1269+18G>A rs1567317709
NM_020686.6(ABAT):c.1269+20C>T
NM_020686.6(ABAT):c.1269+9C>G rs2142998394
NM_020686.6(ABAT):c.1270-11T>C
NM_020686.6(ABAT):c.1270-17G>T
NM_020686.6(ABAT):c.1270-19T>G
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.1293C>T (p.Ser431=) rs2143002708
NM_020686.6(ABAT):c.1296G>A (p.Arg432=)
NM_020686.6(ABAT):c.1297del (p.Arg432_Val433insTer)
NM_020686.6(ABAT):c.1306C>T (p.Arg436Ter)
NM_020686.6(ABAT):c.1323C>T (p.Ser441=) rs1233713916
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.1326C>T (p.Phe442=) 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.1338T>C (p.Asp446=) rs756005421
NM_020686.6(ABAT):c.1344C>T (p.Ser448=) rs2143002825
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.135G>A (p.Leu45=)
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.1368T>A (p.Ile456=)
NM_020686.6(ABAT):c.1369G>A (p.Ala457Thr)
NM_020686.6(ABAT):c.1370C>T (p.Ala457Val) rs769027199
NM_020686.6(ABAT):c.1374A>G (p.Arg458=)
NM_020686.6(ABAT):c.1381+1G>T
NM_020686.6(ABAT):c.1381+6G>T rs777241102
NM_020686.6(ABAT):c.1382-10C>T rs2060432035
NM_020686.6(ABAT):c.1382-119GATG[6] rs3217123
NM_020686.6(ABAT):c.1382-16C>T
NM_020686.6(ABAT):c.1382-9C>T rs1404962969
NM_020686.6(ABAT):c.1384G>A (p.Val462Met)
NM_020686.6(ABAT):c.1389G>A (p.Val463=) rs2060432508
NM_020686.6(ABAT):c.1393G>C (p.Gly465Arg) rs781555217
NM_020686.6(ABAT):c.1394G>A (p.Gly465Asp) rs1057523345
NM_020686.6(ABAT):c.13T>C (p.Leu5=) rs2058905642
NM_020686.6(ABAT):c.1407C>G (p.Asp469Glu)
NM_020686.6(ABAT):c.1410_1411delinsGA (p.Ser471Thr) rs1596475613
NM_020686.6(ABAT):c.1421T>G (p.Phe474Cys) rs1280757572
NM_020686.6(ABAT):c.1423C>T (p.Arg475Cys)
NM_020686.6(ABAT):c.1425T>A (p.Arg475=)
NM_020686.6(ABAT):c.1433T>C (p.Leu478Pro) rs724159991
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.144G>A (p.Thr48=) rs777699903
NM_020686.6(ABAT):c.144G>T (p.Thr48=) rs777699903
NM_020686.6(ABAT):c.1454C>G (p.Ala485Gly)
NM_020686.6(ABAT):c.1459C>G (p.Leu487Val)
NM_020686.6(ABAT):c.145G>T (p.Glu49Ter)
NM_020686.6(ABAT):c.1460T>C (p.Leu487Pro) rs1555494322
NM_020686.6(ABAT):c.1461G>A (p.Leu487=)
NM_020686.6(ABAT):c.1491A>C (p.Ala497=) rs1290355155
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.150C>T (p.Val50=) rs2142624986
NM_020686.6(ABAT):c.163T>C (p.Ser55Pro) rs2059320233
NM_020686.6(ABAT):c.168+18G>C
NM_020686.6(ABAT):c.168+1G>A rs1567300736
NM_020686.6(ABAT):c.168+20G>T
NM_020686.6(ABAT):c.168+5G>T rs539641450
NM_020686.6(ABAT):c.168+6T>A rs2059320859
NM_020686.6(ABAT):c.169-13T>A rs754077432
NM_020686.6(ABAT):c.169-14_169-12del rs1470661184
NM_020686.6(ABAT):c.169-5T>A
NM_020686.6(ABAT):c.169-5_169-4inv
NM_020686.6(ABAT):c.169-8G>C rs2059383863
NM_020686.6(ABAT):c.181C>T (p.Gln61Ter)
NM_020686.6(ABAT):c.186G>C (p.Leu62=)
NM_020686.6(ABAT):c.186G>T (p.Leu62=)
NM_020686.6(ABAT):c.198+10G>A rs748922986
NM_020686.6(ABAT):c.198+16G>A
NM_020686.6(ABAT):c.198+23_198+27del rs1357421251
NM_020686.6(ABAT):c.198+7G>A
NM_020686.6(ABAT):c.198+9_198+10insT
NM_020686.6(ABAT):c.199-13T>C
NM_020686.6(ABAT):c.199-18G>A
NM_020686.6(ABAT):c.199-2A>C
NM_020686.6(ABAT):c.199-6T>C
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.228T>C (p.Asn76=)
NM_020686.6(ABAT):c.22C>T (p.Gln8Ter)
NM_020686.6(ABAT):c.236A>T (p.Glu79Val) rs1596454363
NM_020686.6(ABAT):c.264G>A (p.Val88=)
NM_020686.6(ABAT):c.274C>T (p.Arg92Ter)
NM_020686.6(ABAT):c.303C>T (p.Ser101=)
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.316+12G>C
NM_020686.6(ABAT):c.316+15A>G
NM_020686.6(ABAT):c.316+7G>C rs2142726854
NM_020686.6(ABAT):c.316+9T>C rs1596454454
NM_020686.6(ABAT):c.317-15C>T
NM_020686.6(ABAT):c.317-18dup
NM_020686.6(ABAT):c.317-2A>G
NM_020686.6(ABAT):c.317-5C>G rs781499078
NM_020686.6(ABAT):c.317-5C>T rs781499078
NM_020686.6(ABAT):c.317-7C>T
NM_020686.6(ABAT):c.323G>A (p.Ser108Asn)
NM_020686.6(ABAT):c.327C>T (p.His109=) rs1393125718
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.345C>T (p.Leu115=)
NM_020686.6(ABAT):c.366G>A (p.Ala122=) rs866554267
NM_020686.6(ABAT):c.367-11C>A rs368243612
NM_020686.6(ABAT):c.367-15C>G rs2142919190
NM_020686.6(ABAT):c.36C>T (p.Cys12=)
NM_020686.6(ABAT):c.378C>T (p.Val126=)
NM_020686.6(ABAT):c.378dup (p.Asn127fs)
NM_020686.6(ABAT):c.417T>C (p.Phe139=) rs2142919912
NM_020686.6(ABAT):c.420G>A (p.Val140=) rs1596464284
NM_020686.6(ABAT):c.42C>G (p.Phe14Leu) rs1567293995
NM_020686.6(ABAT):c.432G>C (p.Arg144=) rs974152356
NM_020686.6(ABAT):c.434A>T (p.Gln145Leu)
NM_020686.6(ABAT):c.437C>T (p.Ser146Phe)
NM_020686.6(ABAT):c.439T>C (p.Leu147=)
NM_020686.6(ABAT):c.441G>C (p.Leu147Phe) rs747914194
NM_020686.6(ABAT):c.442C>T (p.Leu148Phe)
NM_020686.6(ABAT):c.444C>G (p.Leu148=)
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.447+12A>T rs2142920603
NM_020686.6(ABAT):c.447+15A>G
NM_020686.6(ABAT):c.447+17C>A rs376401008
NM_020686.6(ABAT):c.447+17C>T rs376401008
NM_020686.6(ABAT):c.447+20T>A
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.448-10C>A
NM_020686.6(ABAT):c.448-11C>T
NM_020686.6(ABAT):c.448-18C>A
NM_020686.6(ABAT):c.448-18C>T rs2142927888
NM_020686.6(ABAT):c.448-1G>T rs1555491838
NM_020686.6(ABAT):c.448-5C>T rs374659543
NM_020686.6(ABAT):c.454C>T (p.Pro152Ser) rs1567310537
NM_020686.6(ABAT):c.458A>G (p.Lys153Arg) rs2142928367
NM_020686.6(ABAT):c.45G>A (p.Gln15=)
NM_020686.6(ABAT):c.471G>A (p.Gln157=) rs762337644
NM_020686.6(ABAT):c.493T>G (p.Ser165Ala)
NM_020686.6(ABAT):c.4dup (p.Ala2fs)
NM_020686.6(ABAT):c.501C>T (p.Ser167=) rs753562528
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.513C>T (p.Ala171=)
NM_020686.6(ABAT):c.522C>T (p.Thr174=)
NM_020686.6(ABAT):c.531G>A (p.Met177Ile)
NM_020686.6(ABAT):c.539G>A (p.Arg180Gln) rs776431473
NM_020686.6(ABAT):c.540+14CA[10] rs35745596
NM_020686.6(ABAT):c.540+14CA[12] rs35745596
NM_020686.6(ABAT):c.540+14CA[13] rs35745596
NM_020686.6(ABAT):c.540+14CA[14] rs35745596
NM_020686.6(ABAT):c.540+14CA[15] rs35745596
NM_020686.6(ABAT):c.540+14CA[16] rs35745596
NM_020686.6(ABAT):c.540+14CA[6] rs35745596
NM_020686.6(ABAT):c.540+14CA[7] rs35745596
NM_020686.6(ABAT):c.540+14CA[8] rs35745596
NM_020686.6(ABAT):c.540+14CA[9] rs35745596
NM_020686.6(ABAT):c.540+16C>A
NM_020686.6(ABAT):c.540+17A>G
NM_020686.6(ABAT):c.540+5G>T rs2059896686
NM_020686.6(ABAT):c.540+8T>C rs762214989
NM_020686.6(ABAT):c.541-15G>C rs779730449
NM_020686.6(ABAT):c.541-5T>C
NM_020686.6(ABAT):c.558G>A (p.Gln186=)
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.57C>T (p.Arg19=) rs1428203927
NM_020686.6(ABAT):c.583G>C (p.Glu195Gln) rs1596465746
NM_020686.6(ABAT):c.585G>A (p.Glu195=) rs2142947004
NM_020686.6(ABAT):c.588G>C (p.Thr196=)
NM_020686.6(ABAT):c.589T>A (p.Cys197Ser) rs1567311566
NM_020686.6(ABAT):c.603+15G>C rs1385658702
NM_020686.6(ABAT):c.603+19G>A
NM_020686.6(ABAT):c.603+1G>A rs2142947295
NM_020686.6(ABAT):c.604-17A>T
NM_020686.6(ABAT):c.604-18G>C
NM_020686.6(ABAT):c.604-6T>A
NM_020686.6(ABAT):c.604-7G>A rs777269086
NM_020686.6(ABAT):c.604G>T (p.Ala202Ser) rs756890572
NM_020686.6(ABAT):c.606C>T (p.Ala202=) rs1555492234
NM_020686.6(ABAT):c.612C>A (p.Gly204=)
NM_020686.6(ABAT):c.615C>A (p.Cys205Ter)
NM_020686.6(ABAT):c.615C>T (p.Cys205=)
NM_020686.6(ABAT):c.618C>G (p.Pro206=) rs373357773
NM_020686.6(ABAT):c.61C>G (p.Leu21Val)
NM_020686.6(ABAT):c.625A>G (p.Ser209Gly) rs2060001644
NM_020686.6(ABAT):c.630C>T (p.Ile210=)
NM_020686.6(ABAT):c.631C>T (p.Leu211Phe) rs724159990
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.659G>A (p.Arg220Lys) rs121434578
NM_020686.6(ABAT):c.65T>A (p.Val22Glu)
NM_020686.6(ABAT):c.660G>A (p.Arg220=)
NM_020686.6(ABAT):c.665T>C (p.Met222Thr)
NM_020686.6(ABAT):c.667+13C>T
NM_020686.6(ABAT):c.667+15T>G
NM_020686.6(ABAT):c.667+19G>A rs546406644
NM_020686.6(ABAT):c.667+7A>C
NM_020686.6(ABAT):c.667+7_667+8dup rs748783252
NM_020686.6(ABAT):c.668-2A>C
NM_020686.6(ABAT):c.66G>A (p.Val22=)
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+13G>C
NM_020686.6(ABAT):c.70+14G>A
NM_020686.6(ABAT):c.70+16C>T
NM_020686.6(ABAT):c.70+6C>A rs369944447
NM_020686.6(ABAT):c.70+7C>T rs1350929505
NM_020686.6(ABAT):c.70+9C>G
NM_020686.6(ABAT):c.70+9del
NM_020686.6(ABAT):c.70+9dup
NM_020686.6(ABAT):c.706A>G (p.Ile236Val) rs2142977210
NM_020686.6(ABAT):c.70G>A (p.Gly24Arg)
NM_020686.6(ABAT):c.71-10T>C
NM_020686.6(ABAT):c.71-12del rs781324531
NM_020686.6(ABAT):c.71-19T>C rs2142622264
NM_020686.6(ABAT):c.71-4G>A
NM_020686.6(ABAT):c.731C>T (p.Pro244Leu)
NM_020686.6(ABAT):c.732C>G (p.Pro244=) rs2060021356
NM_020686.6(ABAT):c.733A>G (p.Ile245Val)
NM_020686.6(ABAT):c.736G>C (p.Ala246Pro) rs768632370
NM_020686.6(ABAT):c.748C>A (p.Arg250=)
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.751C>T (p.Leu251=)
NM_020686.6(ABAT):c.759C>T (p.Tyr253=) rs2060022284
NM_020686.6(ABAT):c.761C>T (p.Pro254Leu) rs2060022335
NM_020686.6(ABAT):c.763C>T (p.Leu255=)
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.798G>A (p.Glu266=)
NM_020686.6(ABAT):c.79C>A (p.His27Asn)
NM_020686.6(ABAT):c.806G>A (p.Cys269Tyr)
NM_020686.6(ABAT):c.816+12A>G
NM_020686.6(ABAT):c.816+16T>C
NM_020686.6(ABAT):c.816+9C>G
NM_020686.6(ABAT):c.817-13C>T
NM_020686.6(ABAT):c.817-16C>T
NM_020686.6(ABAT):c.817-18_817-17del
NM_020686.6(ABAT):c.817-1G>T
NM_020686.6(ABAT):c.817-20C>T rs2142993666
NM_020686.6(ABAT):c.817-2A>G rs1555492932
NM_020686.6(ABAT):c.829_832del (p.Leu276_Ile277insTer)
NM_020686.6(ABAT):c.834G>A (p.Val278=) rs905413679
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.864dup (p.Gly289fs)
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.879G>A (p.Glu293=)
NM_020686.6(ABAT):c.882C>T (p.Pro294=) rs2060153469
NM_020686.6(ABAT):c.885C>T (p.Ile295=) rs2142993787
NM_020686.6(ABAT):c.891C>G (p.Ser297=) rs142228298
NM_020686.6(ABAT):c.891C>T (p.Ser297=) rs142228298
NM_020686.6(ABAT):c.892G>A (p.Glu298Lys) rs1443323102
NM_020686.6(ABAT):c.915C>T (p.Ser305=)
NM_020686.6(ABAT):c.936G>A (p.Leu312=) rs1596470421
NM_020686.6(ABAT):c.938G>C (p.Arg313Thr) rs2142993864
NM_020686.6(ABAT):c.945C>A (p.Ile315=)
NM_020686.6(ABAT):c.945C>T (p.Ile315=) rs368667677
NM_020686.6(ABAT):c.954+10C>G
NM_020686.6(ABAT):c.954+13G>T
NM_020686.6(ABAT):c.954+14G>A rs2060156324
NM_020686.6(ABAT):c.954+15C>A
NM_020686.6(ABAT):c.954+15C>T rs748546258
NM_020686.6(ABAT):c.954+8G>A
NM_020686.6(ABAT):c.955-13C>A rs749756374
NM_020686.6(ABAT):c.955-15C>T rs778033706
NM_020686.6(ABAT):c.955-4C>G rs774347728
NM_020686.6(ABAT):c.955-8C>A
NM_020686.6(ABAT):c.957T>G (p.His319Gln) rs886052431
NM_020686.6(ABAT):c.959G>T (p.Gly320Val)
NM_020686.6(ABAT):c.96A>C (p.Ala32=) rs2059317913
NM_020686.6(ABAT):c.970T>C (p.Leu324=)
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)
NM_020686.6:c.(168+1_169-1)_(366+1_367-1)del

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