ClinVar Miner

List of variants in gene OAT studied for Ornithine aminotransferase deficiency

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Gene type:
ClinVar version:
Total variants: 562
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HGVS dbSNP gnomAD frequency
NM_000274.4(OAT):c.1160-59C>T rs2459217 0.91650
NM_000274.3(OAT):c.-94T>G rs4144117 0.82728
NM_000274.4(OAT):c.648+14A>G rs9422807 0.81973
NM_000274.4(OAT):c.1134C>T (p.Asn378=) rs11461 0.33660
NM_000274.4(OAT):c.199+19C>T rs10794058 0.27706
NM_000274.4(OAT):c.901-22T>C rs17619406 0.15809
NM_000274.4(OAT):c.*185C>T rs2459216 0.10300
NM_000274.4(OAT):c.*535T>C rs8182 0.06407
NM_000274.4(OAT):c.-53C>T rs117824913 0.01420
NM_000274.4(OAT):c.200-10T>C rs80313473 0.00780
NM_000274.4(OAT):c.-30+8C>T rs552799531 0.00661
NM_000274.4(OAT):c.-38C>T rs9422945 0.00489
NM_000274.4(OAT):c.969C>T (p.Tyr323=) rs138895801 0.00110
NM_000274.4(OAT):c.1224T>C (p.His408=) rs201864147 0.00073
NM_000274.4(OAT):c.48C>T (p.Arg16=) rs143526711 0.00070
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe) rs1800456 0.00054
NM_000274.3(OAT):c.-83A>G rs969985784 0.00046
NM_000274.4(OAT):c.1015-6A>G rs561800688 0.00046
NM_000274.4(OAT):c.*61A>G rs530505560 0.00039
NM_000274.4(OAT):c.900+9C>A rs372834151 0.00038
NM_000274.4(OAT):c.*311T>C rs753216934 0.00026
NM_000274.4(OAT):c.-12T>G rs775990544 0.00023
NM_000274.4(OAT):c.900+17C>G rs375060243 0.00020
NM_000274.4(OAT):c.107G>C (p.Gly36Ala) rs140786333 0.00019
NM_000274.4(OAT):c.915G>T (p.Leu305=) rs1249516048 0.00018
NM_000274.4(OAT):c.772-19T>A rs201585464 0.00015
NM_000274.4(OAT):c.517G>A (p.Ala173Thr) rs372152657 0.00014
NM_000274.4(OAT):c.-4C>G rs372151002 0.00013
NM_000274.4(OAT):c.1160-13T>A rs372850085 0.00013
NM_000274.4(OAT):c.355G>A (p.Val119Ile) rs150939128 0.00013
NM_000274.4(OAT):c.546G>T (p.Leu182Phe) rs144763058 0.00013
NM_000274.4(OAT):c.*561G>A rs375454907 0.00011
NM_000274.4(OAT):c.478G>A (p.Val160Met) rs148433929 0.00011
NM_000274.4(OAT):c.1291A>G (p.Ile431Val) rs138709143 0.00010
NM_000274.4(OAT):c.1015-5C>T rs764963374 0.00009
NM_000274.4(OAT):c.283C>T (p.Pro95Ser) rs372105047 0.00008
NM_000274.4(OAT):c.539G>C (p.Arg180Thr) rs121965040 0.00008
NM_000274.4(OAT):c.1110C>T (p.Ala370=) rs148325838 0.00007
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000274.4(OAT):c.582C>T (p.Tyr194=) rs754489812 0.00005
NM_000274.3(OAT):c.-104T>C rs886046813 0.00004
NM_000274.4(OAT):c.1002C>T (p.Ile334=) rs757744354 0.00004
NM_000274.4(OAT):c.1056G>A (p.Leu352=) rs766145396 0.00004
NM_000274.4(OAT):c.1228G>A (p.Asp410Asn) rs745530000 0.00004
NM_000274.4(OAT):c.425-13T>C rs752220933 0.00004
NM_000274.4(OAT):c.543G>A (p.Thr181=) rs558611630 0.00004
NM_000274.4(OAT):c.772-10T>C rs759900831 0.00004
NM_000274.4(OAT):c.1113A>G (p.Val371=) rs370349040 0.00003
NM_000274.4(OAT):c.1187G>A (p.Arg396Gln) rs776819570 0.00003
NM_000274.4(OAT):c.1251G>A (p.Pro417=) rs570318690 0.00003
NM_000274.4(OAT):c.303G>A (p.Leu101=) rs569605240 0.00003
NM_000274.4(OAT):c.314T>C (p.Val105Ala) rs199957428 0.00003
NM_000274.4(OAT):c.521-7T>G rs576876835 0.00003
NM_000274.4(OAT):c.596C>A (p.Pro199Gln) rs267606925 0.00003
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter) rs121965057 0.00003
NM_000274.4(OAT):c.901-3C>T rs371484835 0.00003
NM_000274.4(OAT):c.1014+17C>T rs759429643 0.00002
NM_000274.4(OAT):c.1068G>T (p.Leu356Phe) rs768685095 0.00002
NM_000274.4(OAT):c.1245G>A (p.Ala415=) rs751449034 0.00002
NM_000274.4(OAT):c.1249C>T (p.Pro417Ser) rs763915205 0.00002
NM_000274.4(OAT):c.1255G>C (p.Val419Leu) rs760922693 0.00002
NM_000274.4(OAT):c.184C>T (p.Leu62=) rs776832915 0.00002
NM_000274.4(OAT):c.202A>G (p.Ile68Val) rs766674632 0.00002
NM_000274.4(OAT):c.46C>T (p.Arg16Cys) rs778757920 0.00002
NM_000274.4(OAT):c.477C>T (p.Thr159=) rs575839041 0.00002
NM_000274.4(OAT):c.643C>T (p.Leu215=) rs111616939 0.00002
NM_000274.4(OAT):c.785C>A (p.Ala262Asp) rs772762366 0.00002
NM_000274.4(OAT):c.816T>C (p.Thr272=) rs778561122 0.00002
NM_000274.4(OAT):c.860T>C (p.Ile287Thr) rs550949287 0.00002
NM_000274.4(OAT):c.899C>G (p.Pro300Arg) rs759979499 0.00002
NM_000274.4(OAT):c.900+15C>T rs369658048 0.00002
NM_000274.4(OAT):c.996G>A (p.Val332=) rs768045594 0.00002
NM_000274.4(OAT):c.*189A>G rs886046809 0.00001
NM_000274.4(OAT):c.*35C>T rs750628344 0.00001
NM_000274.4(OAT):c.*378A>G rs886046807 0.00001
NM_000274.4(OAT):c.*486A>G rs1377283827 0.00001
NM_000274.4(OAT):c.-60C>T rs886046812 0.00001
NM_000274.4(OAT):c.1005A>G (p.Ala335=) rs763750788 0.00001
NM_000274.4(OAT):c.1014+10G>C rs185123140 0.00001
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp) rs121965053 0.00001
NM_000274.4(OAT):c.1090C>T (p.Pro364Ser) rs1195438970 0.00001
NM_000274.4(OAT):c.1135G>A (p.Ala379Thr) rs1408984206 0.00001
NM_000274.4(OAT):c.1137T>G (p.Ala379=) rs1390940241 0.00001
NM_000274.4(OAT):c.1160-12A>G rs892494276 0.00001
NM_000274.4(OAT):c.1165G>T (p.Asp389Tyr) rs1281980374 0.00001
NM_000274.4(OAT):c.1166A>G (p.Asp389Gly) rs1414573089 0.00001
NM_000274.4(OAT):c.117C>G (p.Thr39=) rs1171989360 0.00001
NM_000274.4(OAT):c.1192C>T (p.Arg398Ter) rs200068769 0.00001
NM_000274.4(OAT):c.1208T>C (p.Leu403Pro) rs141737170 0.00001
NM_000274.4(OAT):c.1286T>C (p.Ile429Thr) rs774831749 0.00001
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn) rs386833598 0.00001
NM_000274.4(OAT):c.147G>A (p.Lys49=) rs1234365587 0.00001
NM_000274.4(OAT):c.149A>G (p.Tyr50Cys) rs936463102 0.00001
NM_000274.4(OAT):c.162C>A (p.Asn54Lys) rs121965048 0.00001
NM_000274.4(OAT):c.163T>C (p.Tyr55His) rs121965037 0.00001
NM_000274.4(OAT):c.166C>T (p.His56Tyr) rs1228173312 0.00001
NM_000274.4(OAT):c.181G>T (p.Ala61Ser) rs369213619 0.00001
NM_000274.4(OAT):c.199+20G>A rs746812237 0.00001
NM_000274.4(OAT):c.200-9G>A rs1412655303 0.00001
NM_000274.4(OAT):c.211T>C (p.Trp71Arg) rs780235906 0.00001
NM_000274.4(OAT):c.225C>A (p.Gly75=) rs768034800 0.00001
NM_000274.4(OAT):c.264C>T (p.Val88=) rs1951678319 0.00001
NM_000274.4(OAT):c.322T>C (p.Leu108=) rs756421829 0.00001
NM_000274.4(OAT):c.327C>G (p.Thr109=) rs1409185490 0.00001
NM_000274.4(OAT):c.352A>G (p.Asn118Asp) rs367710098 0.00001
NM_000274.4(OAT):c.354C>T (p.Asn118=) rs532722603 0.00001
NM_000274.4(OAT):c.416T>G (p.Met139Arg) rs1043163922 0.00001
NM_000274.4(OAT):c.429G>A (p.Val143=) rs1041076477 0.00001
NM_000274.4(OAT):c.461G>A (p.Arg154His) rs121965039 0.00001
NM_000274.4(OAT):c.49G>A (p.Gly17Arg) rs760716065 0.00001
NM_000274.4(OAT):c.520+10A>C rs747375268 0.00001
NM_000274.4(OAT):c.520+18T>G rs778035963 0.00001
NM_000274.4(OAT):c.520+7G>A rs369858071 0.00001
NM_000274.4(OAT):c.58T>A (p.Ser20Thr) rs1046309017 0.00001
NM_000274.4(OAT):c.606G>A (p.Pro202=) rs369806549 0.00001
NM_000274.4(OAT):c.615C>T (p.Asp205=) rs144823472 0.00001
NM_000274.4(OAT):c.633T>G (p.Asp211Glu) rs755162030 0.00001
NM_000274.4(OAT):c.636G>T (p.Leu212=) rs1951546849 0.00001
NM_000274.4(OAT):c.639C>T (p.Pro213=) rs773314783 0.00001
NM_000274.4(OAT):c.648+12G>A rs772528371 0.00001
NM_000274.4(OAT):c.772-4A>G rs777129550 0.00001
NM_000274.4(OAT):c.78A>G (p.Thr26=) rs1205048472 0.00001
NM_000274.4(OAT):c.796C>T (p.Gln266Ter) rs1951458291 0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile) rs386833618 0.00001
NM_000274.4(OAT):c.823T>A (p.Trp275Arg) rs947658691 0.00001
NM_000274.4(OAT):c.845A>G (p.Asn282Ser) rs956427344 0.00001
NM_000274.4(OAT):c.853C>T (p.Pro285Ser) rs1295048098 0.00001
NM_000274.4(OAT):c.881T>A (p.Leu294His) rs752974288 0.00001
NM_000274.4(OAT):c.90T>C (p.Thr30=) rs1250394805 0.00001
NM_000274.4(OAT):c.939C>A (p.Thr313=) rs1263275234 0.00001
NM_000274.4(OAT):c.951G>A (p.Gly317=) rs1424302227 0.00001
NM_000274.4(OAT):c.952G>A (p.Glu318Lys) rs386833621 0.00001
NM_000274.4(OAT):c.957T>C (p.His319=) rs1162641842 0.00001
NM_000274.4(OAT):c.977A>G (p.Asn326Ser) rs371878605 0.00001
NM_000274.4(OAT):c.991C>T (p.Arg331Ter) rs386833623 0.00001
NM_000274.4(OAT):c.997G>A (p.Ala333Thr) rs1322699067 0.00001
NC_000010.10:g.(?_126086501)_(126086681_?)del
NC_000010.10:g.(?_126086511)_(126100740_?)dup
NC_000010.10:g.(?_126089389)_(126090428_?)dup
NC_000010.10:g.(?_126089399)_(126089563_?)del
NC_000010.10:g.(?_126091476)_(126092509_?)del
NC_000010.10:g.(?_126093995)_(126100239_?)del
NC_000010.10:g.(?_126097101)_(126097544_?)del
NC_000010.10:g.(?_126097101)_(126100750_?)del
NC_000010.11:g.(124404664_124404669)_(124404736_124405741)del
NM_000274.4(OAT):c.*275A>G rs886046808
NM_000274.4(OAT):c.-30+11G>A rs886046811
NM_000274.4(OAT):c.-59G>C rs144950523
NM_000274.4(OAT):c.-66A>G rs1387021384
NM_000274.4(OAT):c.1001dup (p.Ala335fs) rs2134452962
NM_000274.4(OAT):c.1003G>T (p.Ala335Ser) rs751075605
NM_000274.4(OAT):c.1008C>T (p.Ala336=)
NM_000274.4(OAT):c.1014+14C>G
NM_000274.4(OAT):c.1014+16G>A
NM_000274.4(OAT):c.1014+19A>C
NM_000274.4(OAT):c.1014+19A>G
NM_000274.4(OAT):c.1014+1G>A rs1951414426
NM_000274.4(OAT):c.1014+6G>A
NM_000274.4(OAT):c.1014+8C>T
NM_000274.4(OAT):c.1014G>A (p.Glu338=)
NM_000274.4(OAT):c.1015-18A>C
NM_000274.4(OAT):c.1015-18A>T
NM_000274.4(OAT):c.1015-4G>A rs1312077418
NM_000274.4(OAT):c.1015-4G>C rs1312077418
NM_000274.4(OAT):c.1015-4G>T
NM_000274.4(OAT):c.1015-6A>C rs561800688
NM_000274.4(OAT):c.1015-6del
NM_000274.4(OAT):c.1015-9dup
NM_000274.4(OAT):c.1015del
NM_000274.4(OAT):c.1017T>C (p.Val339=) rs2134450954
NM_000274.4(OAT):c.1027G>C (p.Glu343Gln) rs1951391727
NM_000274.4(OAT):c.102C>A (p.Val34=) rs2134491030
NM_000274.4(OAT):c.102C>T (p.Val34=)
NM_000274.4(OAT):c.1031del (p.Asn344fs) rs386833594
NM_000274.4(OAT):c.1032C>T (p.Asn344=) rs2134450878
NM_000274.4(OAT):c.1035T>A (p.Leu345=) rs1951391200
NM_000274.4(OAT):c.1035T>C (p.Leu345=) rs1951391200
NM_000274.4(OAT):c.1036G>A (p.Ala346Thr)
NM_000274.4(OAT):c.1039G>A (p.Glu347Lys) rs2134450837
NM_000274.4(OAT):c.1050C>T (p.Asp350=) rs2134450807
NM_000274.4(OAT):c.1053A>G (p.Lys351=) rs757483886
NM_000274.4(OAT):c.1055T>C (p.Leu352Ser)
NM_000274.4(OAT):c.1056G>C (p.Leu352Phe) rs766145396
NM_000274.4(OAT):c.1073A>G (p.Asn358Ser)
NM_000274.4(OAT):c.1076A>G (p.Glu359Gly)
NM_000274.4(OAT):c.1077A>G (p.Glu359=) rs2134450629
NM_000274.4(OAT):c.1078del (p.Leu360fs) rs1951389692
NM_000274.4(OAT):c.1080C>G (p.Leu360=)
NM_000274.4(OAT):c.1084A>G (p.Lys362Glu) rs2134450586
NM_000274.4(OAT):c.1089A>T (p.Leu363=) rs1589697490
NM_000274.4(OAT):c.108C>T (p.Gly36=) rs2134490957
NM_000274.4(OAT):c.109C>G (p.Pro37Ala)
NM_000274.4(OAT):c.1104A>G (p.Val368=)
NM_000274.4(OAT):c.110C>T (p.Pro37Leu) rs747742850
NM_000274.4(OAT):c.1111G>A (p.Val371Ile)
NM_000274.4(OAT):c.1112dup (p.Arg372fs)
NM_000274.4(OAT):c.1113A>T (p.Val371=)
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu) rs386833595
NM_000274.4(OAT):c.111T>C (p.Pro37=)
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala) rs121965045
NM_000274.4(OAT):c.1125A>G (p.Gly375=) rs1589697304
NM_000274.4(OAT):c.1126T>C (p.Leu376=) rs2134450338
NM_000274.4(OAT):c.112C>T (p.Pro38Ser)
NM_000274.4(OAT):c.1137T>C (p.Ala379=) rs1390940241
NM_000274.4(OAT):c.1138A>G (p.Ile380Val) rs545710763
NM_000274.4(OAT):c.1140del (p.Ile380fs)
NM_000274.4(OAT):c.114A>G (p.Pro38=)
NM_000274.4(OAT):c.1150G>T (p.Glu384Ter) rs1285313333
NM_000274.4(OAT):c.1155C>A (p.Thr385=) rs2134450152
NM_000274.4(OAT):c.1155C>T (p.Thr385=)
NM_000274.4(OAT):c.1159+10T>G rs1589697164
NM_000274.4(OAT):c.1159+15C>T
NM_000274.4(OAT):c.1159+16A>C
NM_000274.4(OAT):c.1159+1G>A rs2134450136
NM_000274.4(OAT):c.1159+2T>A
NM_000274.4(OAT):c.1159+2_1159+3insAAAGAAACCAAAGGTGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCGCTACAACCACCTCCCAGCCGCCTGCCTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_000274.4(OAT):c.1159G>C (p.Asp387His)
NM_000274.4(OAT):c.1160-13T>C
NM_000274.4(OAT):c.1160-15A>G
NM_000274.4(OAT):c.1160-16T>A rs2134440750
NM_000274.4(OAT):c.1160-1G>C
NM_000274.4(OAT):c.1160-20G>A
NM_000274.4(OAT):c.1160-43_1160-15del
NM_000274.4(OAT):c.1160-6del rs2134440702
NM_000274.4(OAT):c.1160A>G (p.Asp387Gly)
NM_000274.4(OAT):c.1163G>A (p.Trp388Ter) rs2134440659
NM_000274.4(OAT):c.1164G>A (p.Trp388Ter)
NM_000274.4(OAT):c.116C>T (p.Thr39Ile) rs754764229
NM_000274.4(OAT):c.1171dup (p.Trp391fs)
NM_000274.4(OAT):c.1172G>A (p.Trp391Ter) rs386833596
NM_000274.4(OAT):c.1179G>A (p.Val393=)
NM_000274.4(OAT):c.1179_1182dup (p.Leu395fs) rs2134440572
NM_000274.4(OAT):c.1180T>C (p.Cys394Arg) rs121965054
NM_000274.4(OAT):c.1181G>A (p.Cys394Tyr) rs386833597
NM_000274.4(OAT):c.1184T>G (p.Leu395Arg) rs2134440552
NM_000274.4(OAT):c.1186C>A (p.Arg396=) rs121965036
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter) rs121965036
NM_000274.4(OAT):c.1187G>T (p.Arg396Leu)
NM_000274.4(OAT):c.1188A>G (p.Arg396=) rs2134440491
NM_000274.4(OAT):c.1198A>T (p.Asn400Tyr) rs2134440441
NM_000274.4(OAT):c.1201G>T (p.Gly401Ter) rs121965055
NM_000274.4(OAT):c.1205T>C (p.Leu402Pro) rs121965043
NM_000274.4(OAT):c.1212C>G (p.Ala404=) rs2134440359
NM_000274.4(OAT):c.1215G>A (p.Lys405=)
NM_000274.4(OAT):c.1221C>G (p.Thr407=)
NM_000274.4(OAT):c.1222C>G (p.His408Asp)
NM_000274.4(OAT):c.1227C>A (p.Gly409=)
NM_000274.4(OAT):c.1227C>G (p.Gly409=)
NM_000274.4(OAT):c.1230C>T (p.Asp410=)
NM_000274.4(OAT):c.1231A>G (p.Ile411Val)
NM_000274.4(OAT):c.123T>C (p.Asp41=) rs376051303
NM_000274.4(OAT):c.124G>A (p.Asp42Asn) rs2134490858
NM_000274.4(OAT):c.1252C>T (p.Leu418=)
NM_000274.4(OAT):c.1253_1260dup (p.Lys421delinsTrpTer) rs2134440057
NM_000274.4(OAT):c.1254G>A (p.Leu418=)
NM_000274.4(OAT):c.1261A>G (p.Lys421Glu) rs1434415037
NM_000274.4(OAT):c.1264G>T (p.Glu422Ter)
NM_000274.4(OAT):c.126C>T (p.Asp42=)
NM_000274.4(OAT):c.1272G>T (p.Glu424Asp) rs1170702129
NM_000274.4(OAT):c.1276C>A (p.Arg426=)
NM_000274.4(OAT):c.1276C>T (p.Arg426Ter) rs121965058
NM_000274.4(OAT):c.1281G>A (p.Glu427=) rs1589692099
NM_000274.4(OAT):c.1284C>G (p.Ser428=)
NM_000274.4(OAT):c.1284C>T (p.Ser428=) rs762294532
NM_000274.4(OAT):c.1285A>G (p.Ile429Val)
NM_000274.4(OAT):c.1293T>A (p.Ile431=) rs2134439830
NM_000274.4(OAT):c.1294A>T (p.Ile432Phe)
NM_000274.4(OAT):c.1299C>T (p.Asn433=)
NM_000274.4(OAT):c.1300A>G (p.Lys434Glu)
NM_000274.4(OAT):c.1301A>C (p.Lys434Thr) rs2134439801
NM_000274.4(OAT):c.1305C>A (p.Thr435=) rs528039246
NM_000274.4(OAT):c.1305C>T (p.Thr435=) rs528039246
NM_000274.4(OAT):c.1309T>C (p.Leu437=)
NM_000274.4(OAT):c.1311G>A (p.Leu437=) rs1800456
NM_000274.4(OAT):c.1311G>C (p.Leu437Phe) rs1800456
NM_000274.4(OAT):c.1312T>A (p.Ser438Thr)
NM_000274.4(OAT):c.1314T>C (p.Ser438=)
NM_000274.4(OAT):c.1320A>G (p.Ter440Trp) rs2134439693
NM_000274.4(OAT):c.141A>G (p.Glu47=)
NM_000274.4(OAT):c.152G>A (p.Gly51Asp)
NM_000274.4(OAT):c.158A>G (p.His53Arg)
NM_000274.4(OAT):c.159C>T (p.His53=)
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000274.4(OAT):c.162C>T (p.Asn54=)
NM_000274.4(OAT):c.174A>G (p.Leu58=) rs1383903514
NM_000274.4(OAT):c.175C>T (p.Pro59Ser)
NM_000274.4(OAT):c.182_189del (p.Ala61fs)
NM_000274.4(OAT):c.192A>G (p.Arg64=) rs1329587046
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.198_199+6delinsTTAA rs1554867698
NM_000274.4(OAT):c.198del (p.Gly67fs) rs1432416419
NM_000274.4(OAT):c.199+11_199+16dup rs201396618
NM_000274.4(OAT):c.199+12A>G
NM_000274.4(OAT):c.199+17T>C
NM_000274.4(OAT):c.199+18C>T
NM_000274.4(OAT):c.199+19C>A
NM_000274.4(OAT):c.199+20G>T rs746812237
NM_000274.4(OAT):c.199+20del
NM_000274.4(OAT):c.199+303C>G rs386833601
NM_000274.4(OAT):c.199+4C>T rs373425479
NM_000274.4(OAT):c.199+5G>A rs1564739598
NM_000274.4(OAT):c.199+8T>A
NM_000274.4(OAT):c.199+9C>A
NM_000274.4(OAT):c.1A>G (p.Met1Val) rs1283361732
NM_000274.4(OAT):c.1del (p.Met1fs)
NM_000274.4(OAT):c.200-13T>A
NM_000274.4(OAT):c.200-14del rs2134479102
NM_000274.4(OAT):c.200-36_222del rs1564737136
NM_000274.4(OAT):c.200-6T>C
NM_000274.4(OAT):c.210A>G (p.Leu70=) rs2134478994
NM_000274.4(OAT):c.219A>C (p.Val73=)
NM_000274.4(OAT):c.228A>G (p.Arg76=)
NM_000274.4(OAT):c.240C>T (p.Asp80=) rs2134478924
NM_000274.4(OAT):c.24G>A (p.Leu8=) rs1383131322
NM_000274.4(OAT):c.258T>C (p.Ser86=)
NM_000274.4(OAT):c.267C>A (p.Asn89Lys) rs386833602
NM_000274.4(OAT):c.267C>T (p.Asn89=)
NM_000274.4(OAT):c.268C>G (p.Gln90Glu) rs121965060
NM_000274.4(OAT):c.272G>A (p.Gly91Glu) rs386833603
NM_000274.4(OAT):c.276T>C (p.His92=)
NM_000274.4(OAT):c.278G>T (p.Cys93Phe) rs121965038
NM_000274.4(OAT):c.285C>T (p.Pro95=)
NM_000274.4(OAT):c.296A>G (p.Asn99Ser)
NM_000274.4(OAT):c.297T>C (p.Asn99=) rs530768910
NM_000274.4(OAT):c.300T>C (p.Ala100=) rs2134478568
NM_000274.4(OAT):c.301C>T (p.Leu101=) rs2134478556
NM_000274.4(OAT):c.304_305del (p.Lys102fs) rs2134478524
NM_000274.4(OAT):c.307A>G (p.Ser103Gly) rs2134478495
NM_000274.4(OAT):c.311A>G (p.Gln104Arg) rs386833604
NM_000274.4(OAT):c.312A>G (p.Gln104=)
NM_000274.4(OAT):c.315G>C (p.Val105=) rs780286690
NM_000274.4(OAT):c.336T>C (p.Ser112=) rs2134478347
NM_000274.4(OAT):c.33T>C (p.Phe11=)
NM_000274.4(OAT):c.34G>T (p.Ala12Ser)
NM_000274.4(OAT):c.350dup (p.Asn117fs)
NM_000274.4(OAT):c.360T>C (p.Leu120=)
NM_000274.4(OAT):c.362G>A (p.Gly121Asp) rs386833605
NM_000274.4(OAT):c.370GAG[1] (p.Glu125del) rs386833606
NM_000274.4(OAT):c.372G>A (p.Glu124=)
NM_000274.4(OAT):c.381dup (p.Thr128fs) rs386833607
NM_000274.4(OAT):c.384T>C (p.Thr128=)
NM_000274.4(OAT):c.391T>C (p.Phe131Leu) rs2134478077
NM_000274.4(OAT):c.395A>G (p.Asn132Ser)
NM_000274.4(OAT):c.3G>A (p.Met1Ile) rs121965034
NM_000274.4(OAT):c.401A>G (p.His134Arg) rs1217397711
NM_000274.4(OAT):c.402C>T (p.His134=)
NM_000274.4(OAT):c.413C>T (p.Pro138Leu) rs1951673489
NM_000274.4(OAT):c.414T>C (p.Pro138=)
NM_000274.4(OAT):c.424+1G>A
NM_000274.4(OAT):c.424+6dup rs2134477923
NM_000274.4(OAT):c.424+8A>G rs2134477909
NM_000274.4(OAT):c.424+9T>C
NM_000274.4(OAT):c.425-11T>C
NM_000274.4(OAT):c.425-20A>G
NM_000274.4(OAT):c.425-2A>G rs386833608
NM_000274.4(OAT):c.425-4A>G
NM_000274.4(OAT):c.425-4_429del rs386833609
NM_000274.4(OAT):c.425-5G>T rs2134477497
NM_000274.4(OAT):c.425-6T>C
NM_000274.4(OAT):c.425G>A (p.Gly142Glu) rs386833610
NM_000274.4(OAT):c.426del (p.Val143fs)
NM_000274.4(OAT):c.427G>T (p.Val143Leu) rs2134477473
NM_000274.4(OAT):c.435T>C (p.Ala145=) rs764910542
NM_000274.4(OAT):c.435T>G (p.Ala145=) rs764910542
NM_000274.4(OAT):c.437G>T (p.Gly146Val) rs1951668263
NM_000274.4(OAT):c.43A>T (p.Ser15Cys) rs1453312313
NM_000274.4(OAT):c.442A>T (p.Thr148Ser)
NM_000274.4(OAT):c.447C>A (p.Ala149=) rs1951667717
NM_000274.4(OAT):c.44G>T (p.Ser15Ile)
NM_000274.4(OAT):c.450T>A (p.Cys150Ter)
NM_000274.4(OAT):c.460C>T (p.Arg154Cys)
NM_000274.4(OAT):c.461G>T (p.Arg154Leu) rs121965039
NM_000274.4(OAT):c.465G>A (p.Lys155=)
NM_000274.4(OAT):c.466T>A (p.Trp156Arg)
NM_000274.4(OAT):c.468G>A (p.Trp156Ter)
NM_000274.4(OAT):c.472_486del (p.Tyr158_Gly162del) rs386833611
NM_000274.4(OAT):c.473A>C (p.Tyr158Ser)
NM_000274.4(OAT):c.478G>C (p.Val160Leu)
NM_000274.4(OAT):c.47G>A (p.Arg16His)
NM_000274.4(OAT):c.480G>A (p.Val160=) rs2134477131
NM_000274.4(OAT):c.483G>A (p.Lys161=)
NM_000274.4(OAT):c.48C>A (p.Arg16=) rs143526711
NM_000274.4(OAT):c.48C>G (p.Arg16=)
NM_000274.4(OAT):c.494A>C (p.Lys165Thr) rs1951665737
NM_000274.4(OAT):c.498C>G (p.Tyr166Ter)
NM_000274.4(OAT):c.49G>C (p.Gly17Arg) rs760716065
NM_000274.4(OAT):c.49G>T (p.Gly17Ter)
NM_000274.4(OAT):c.49_52dup (p.Val18fs) rs1554867854
NM_000274.4(OAT):c.500A>C (p.Lys167Thr)
NM_000274.4(OAT):c.501A>G (p.Lys167=) rs1951665213
NM_000274.4(OAT):c.504A>C (p.Ala168=) rs138591022
NM_000274.4(OAT):c.504A>G (p.Ala168=) rs138591022
NM_000274.4(OAT):c.511G>A (p.Val171Ile) rs1951664964
NM_000274.4(OAT):c.515T>C (p.Phe172Ser)
NM_000274.4(OAT):c.515_516del (p.Phe172fs) rs2134476898
NM_000274.4(OAT):c.516T>C (p.Phe172=) rs2134476880
NM_000274.4(OAT):c.519A>G (p.Ala173=) rs2134476827
NM_000274.4(OAT):c.520+11T>C
NM_000274.4(OAT):c.520+17A>G
NM_000274.4(OAT):c.520+1G>A
NM_000274.4(OAT):c.520+1G>T rs2134476814
NM_000274.4(OAT):c.520+4T>C
NM_000274.4(OAT):c.521-15_521-12del rs376636397
NM_000274.4(OAT):c.521-6T>G rs369018496
NM_000274.4(OAT):c.521-9C>T
NM_000274.4(OAT):c.525G>A (p.Gly175=)
NM_000274.4(OAT):c.525del (p.Asn176fs)
NM_000274.4(OAT):c.531C>T (p.Phe177=)
NM_000274.4(OAT):c.533G>A (p.Trp178Ter) rs267606923
NM_000274.4(OAT):c.533G>C (p.Trp178Ser) rs267606923
NM_000274.4(OAT):c.533G>T (p.Trp178Leu) rs267606923
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer) rs386833612
NM_000274.4(OAT):c.534G>A (p.Trp178Ter) rs890106099
NM_000274.4(OAT):c.538A>C (p.Arg180=) rs2134465732
NM_000274.4(OAT):c.542C>T (p.Thr181Met) rs386833613
NM_000274.4(OAT):c.543G>T (p.Thr181=)
NM_000274.4(OAT):c.546_649-726del rs2134462662
NM_000274.4(OAT):c.548C>G (p.Ser183Cys) rs2134465660
NM_000274.4(OAT):c.550G>A (p.Ala184Thr) rs121965050
NM_000274.4(OAT):c.550_552del (p.Ala184del) rs121965035
NM_000274.4(OAT):c.558C>T (p.Ser186=) rs1589705355
NM_000274.4(OAT):c.561T>C (p.Ser187=)
NM_000274.4(OAT):c.565A>G (p.Thr189Ala)
NM_000274.4(OAT):c.567A>G (p.Thr189=) rs2134465525
NM_000274.4(OAT):c.573A>G (p.Pro191=)
NM_000274.4(OAT):c.576del (p.Ser193fs) rs2134465433
NM_000274.4(OAT):c.578G>A (p.Ser193Asn)
NM_000274.4(OAT):c.581dup (p.Tyr194Ter)
NM_000274.4(OAT):c.582C>G (p.Tyr194Ter)
NM_000274.4(OAT):c.583G>A (p.Asp195Asn) rs386833614
NM_000274.4(OAT):c.583G>T (p.Asp195Tyr) rs386833614
NM_000274.4(OAT):c.591dup (p.Gly198fs)
NM_000274.4(OAT):c.592_601del (p.Gly198fs)
NM_000274.4(OAT):c.603G>T (p.Met201Ile)
NM_000274.4(OAT):c.604C>A (p.Pro202Thr) rs868567649
NM_000274.4(OAT):c.604C>T (p.Pro202Ser)
NM_000274.4(OAT):c.605C>T (p.Pro202Leu)
NM_000274.4(OAT):c.612C>T (p.Phe204=) rs750055546
NM_000274.4(OAT):c.613_614delinsAC (p.Asp205Thr)
NM_000274.4(OAT):c.614A>G (p.Asp205Gly) rs375157197
NM_000274.4(OAT):c.619A>T (p.Ile207Phe)
NM_000274.4(OAT):c.624C>T (p.Pro208=) rs2134465205
NM_000274.4(OAT):c.626A>G (p.Tyr209Cys) rs2134465189
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter) rs121965056
NM_000274.4(OAT):c.627T>C (p.Tyr209=) rs121965056
NM_000274.4(OAT):c.627T>G (p.Tyr209Ter)
NM_000274.4(OAT):c.630T>C (p.Asn210=)
NM_000274.4(OAT):c.630_631insA (p.Asp211fs)
NM_000274.4(OAT):c.633T>C (p.Asp211=)
NM_000274.4(OAT):c.634C>T (p.Leu212=) rs2134465097
NM_000274.4(OAT):c.636G>A (p.Leu212=)
NM_000274.4(OAT):c.63A>G (p.Ser21=)
NM_000274.4(OAT):c.640G>T (p.Ala214Ser) rs1464097966
NM_000274.4(OAT):c.642A>G (p.Ala214=)
NM_000274.4(OAT):c.648+13C>A rs779470531
NM_000274.4(OAT):c.648+13C>T
NM_000274.4(OAT):c.648+13_648+14inv
NM_000274.4(OAT):c.648+19A>C
NM_000274.4(OAT):c.648+1G>A rs1951546023
NM_000274.4(OAT):c.648+20G>A
NM_000274.4(OAT):c.648+20G>T
NM_000274.4(OAT):c.648+2T>C
NM_000274.4(OAT):c.648+6T>G rs1951545873
NM_000274.4(OAT):c.648+8A>C rs1951545729
NM_000274.4(OAT):c.75T>C (p.Ala25=) rs1199534913
NM_000274.4(OAT):c.772-10del
NM_000274.4(OAT):c.772-17dup rs778743727
NM_000274.4(OAT):c.772-1G>A rs770390524
NM_000274.4(OAT):c.772-1G>T rs770390524
NM_000274.4(OAT):c.772-20G>A
NM_000274.4(OAT):c.772-20del
NM_000274.4(OAT):c.772-4del
NM_000274.4(OAT):c.772-5A>G
NM_000274.4(OAT):c.772-9C>T
NM_000274.4(OAT):c.773T>A (p.Val258Asp)
NM_000274.4(OAT):c.775C>G (p.Leu259Val) rs1252853867
NM_000274.4(OAT):c.776del (p.Leu259fs) rs2134456729
NM_000274.4(OAT):c.777C>T (p.Leu259=)
NM_000274.4(OAT):c.780del (p.Phe260fs) rs2134456707
NM_000274.4(OAT):c.783del (p.Ile261fs) rs1195885907
NM_000274.4(OAT):c.789T>C (p.Asp263=) rs2134456663
NM_000274.4(OAT):c.792A>T (p.Glu264Asp) rs1174503043
NM_000274.4(OAT):c.796C>A (p.Gln266Lys) rs1951458291
NM_000274.4(OAT):c.799A>G (p.Thr267Ala) rs2134456603
NM_000274.4(OAT):c.799_802del (p.Thr267fs)
NM_000274.4(OAT):c.807G>A (p.Leu269=) rs2134456558
NM_000274.4(OAT):c.808G>C (p.Ala270Pro) rs121965041
NM_000274.4(OAT):c.809C>T (p.Ala270Val) rs2134456541
NM_000274.4(OAT):c.812G>A (p.Arg271Lys) rs121965042
NM_000274.4(OAT):c.819T>A (p.Gly273=) rs2134456505
NM_000274.4(OAT):c.824G>A (p.Trp275Ter) rs267606924
NM_000274.4(OAT):c.834T>C (p.Val278=)
NM_000274.4(OAT):c.839A>G (p.Tyr280Cys)
NM_000274.4(OAT):c.840T>C (p.Tyr280=)
NM_000274.4(OAT):c.843A>G (p.Glu281=)
NM_000274.4(OAT):c.844A>C (p.Asn282His) rs144131321
NM_000274.4(OAT):c.864C>G (p.Val288=) rs1951455108
NM_000274.4(OAT):c.864C>T (p.Val288=)
NM_000274.4(OAT):c.867C>A (p.Leu289=)
NM_000274.4(OAT):c.867C>T (p.Leu289=) rs2134456266
NM_000274.4(OAT):c.875A>G (p.Lys292Arg) rs1057518927
NM_000274.4(OAT):c.876G>A (p.Lys292=)
NM_000274.4(OAT):c.879C>T (p.Ala293=) rs1951454400
NM_000274.4(OAT):c.881_900+51del rs1951451290
NM_000274.4(OAT):c.886G>A (p.Gly296Arg) rs1589700741
NM_000274.4(OAT):c.889G>T (p.Gly297Cys)
NM_000274.4(OAT):c.896dup (p.Tyr299Ter) rs2134456170
NM_000274.4(OAT):c.897C>T (p.Tyr299=)
NM_000274.4(OAT):c.899C>T (p.Pro300Leu) rs759979499
NM_000274.4(OAT):c.899del (p.Pro300fs)
NM_000274.4(OAT):c.900+10A>G rs2134456121
NM_000274.4(OAT):c.900+12G>C
NM_000274.4(OAT):c.900+15C>A
NM_000274.4(OAT):c.900+18C>A
NM_000274.4(OAT):c.900+18C>T
NM_000274.4(OAT):c.900+1G>A rs1589700702
NM_000274.4(OAT):c.900+1G>C
NM_000274.4(OAT):c.900+20del
NM_000274.4(OAT):c.900+7T>C rs2134456131
NM_000274.4(OAT):c.901-10T>C rs376686600
NM_000274.4(OAT):c.901-10T>G rs376686600
NM_000274.4(OAT):c.901-12A>T rs1951421133
NM_000274.4(OAT):c.901-15T>C
NM_000274.4(OAT):c.901-1G>A rs1951420329
NM_000274.4(OAT):c.901-20G>A
NM_000274.4(OAT):c.901-2A>G rs386833619
NM_000274.4(OAT):c.901G>A (p.Val301Met)
NM_000274.4(OAT):c.901G>T (p.Val301Leu)
NM_000274.4(OAT):c.90T>G (p.Thr30=) rs1250394805
NM_000274.4(OAT):c.911T>A (p.Val304Glu) rs886046810
NM_000274.4(OAT):c.911T>G (p.Val304Gly)
NM_000274.4(OAT):c.915G>A (p.Leu305=)
NM_000274.4(OAT):c.922G>A (p.Asp308Asn)
NM_000274.4(OAT):c.924T>C (p.Asp308=) rs2134453379
NM_000274.4(OAT):c.927C>T (p.Asp309=) rs2134453354
NM_000274.4(OAT):c.934C>A (p.Leu312Met)
NM_000274.4(OAT):c.93A>G (p.Lys31=) rs1274789501
NM_000274.4(OAT):c.948A>C (p.Pro316=) rs2134453303
NM_000274.4(OAT):c.952del (p.Glu318fs) rs386833620
NM_000274.4(OAT):c.955C>T (p.His319Tyr) rs121965049
NM_000274.4(OAT):c.956A>G (p.His319Arg)
NM_000274.4(OAT):c.965C>T (p.Thr322Ile) rs953827835
NM_000274.4(OAT):c.966A>G (p.Thr322=) rs1951417723
NM_000274.4(OAT):c.966A>T (p.Thr322=) rs1951417723
NM_000274.4(OAT):c.966del (p.Tyr323fs) rs1951417940
NM_000274.4(OAT):c.968dup (p.Tyr323Ter)
NM_000274.4(OAT):c.969C>G (p.Tyr323Ter)
NM_000274.4(OAT):c.96A>C (p.Lys32Asn) rs978283946
NM_000274.4(OAT):c.96_97del (p.Lys32fs)
NM_000274.4(OAT):c.975C>A (p.Gly325=)
NM_000274.4(OAT):c.978T>A (p.Asn326Lys) rs386833622
NM_000274.4(OAT):c.97del (p.Thr33fs)
NM_000274.4(OAT):c.97dup (p.Thr33fs) rs1375779674
NM_000274.4(OAT):c.980C>G (p.Pro327Arg) rs1589698958
NM_000274.4(OAT):c.981A>T (p.Pro327=) rs1365800165
NM_000274.4(OAT):c.982C>T (p.Leu328=)
NM_000274.4(OAT):c.984A>G (p.Leu328=) rs755193146
NM_000274.4(OAT):c.986G>C (p.Gly329Ala)
NM_000274.4(OAT):c.988_991dup (p.Arg331fs)
NM_000274.4(OAT):c.992G>A (p.Arg331Gln)
NM_000274.4(OAT):c.992G>T (p.Arg331Leu) rs201504751
NM_000274.4(OAT):c.994G>A (p.Val332Met) rs121965047

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