ClinVar Miner

List of variants in gene AMT studied for inborn disorder of serine family metabolism

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 626
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HGVS dbSNP gnomAD frequency
NM_000481.4(AMT):c.259-109T>G rs4855873 0.42055
NM_000481.4(AMT):c.*696C>T rs10640 0.29031
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915 0.28593
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200 0.00397
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107 0.00299
NM_000481.4(AMT):c.*130G>T rs143731179 0.00149
NM_000481.4(AMT):c.*545C>T rs114057053 0.00144
NM_000481.4(AMT):c.*416C>T rs571207015 0.00114
NM_000481.4(AMT):c.510G>C (p.Val170=) rs140380954 0.00091
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293 0.00072
NM_000481.4(AMT):c.*678C>G rs779703869 0.00057
NM_000481.4(AMT):c.101G>A (p.Arg34His) rs138259479 0.00032
NM_000481.4(AMT):c.825T>A (p.Asn275Lys) rs144241950 0.00031
NM_000481.4(AMT):c.152C>T (p.Ala51Val) rs34812788 0.00024
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_000481.4(AMT):c.697-3C>T rs373703503 0.00022
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala) rs201189946 0.00018
NM_000481.4(AMT):c.*424G>C rs746995778 0.00017
NM_000481.4(AMT):c.363C>T (p.Asn121=) rs367604855 0.00017
NM_000481.4(AMT):c.*163G>C rs200568631 0.00016
NM_000481.4(AMT):c.858C>A (p.Gly286=) rs367726589 0.00014
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059 0.00012
NM_000481.4(AMT):c.822G>C (p.Gly274=) rs763963724 0.00011
NM_000481.4(AMT):c.952C>T (p.Arg318Trp) rs777583902 0.00011
NM_000481.4(AMT):c.1062C>A (p.Pro354=) rs377227163 0.00010
NM_000481.4(AMT):c.194A>G (p.His65Arg) rs376248724 0.00010
NM_000481.4(AMT):c.701C>T (p.Ser234Leu) rs150998074 0.00010
NM_000481.4(AMT):c.463C>T (p.Leu155Phe) rs201233398 0.00009
NM_000481.4(AMT):c.582C>T (p.Gly194=) rs377552553 0.00009
NM_000481.4(AMT):c.589G>C (p.Asp197His) rs200550585 0.00009
NM_000481.4(AMT):c.159G>A (p.Ala53=) rs201080782 0.00007
NM_000481.4(AMT):c.713C>T (p.Ala238Val) rs199985521 0.00007
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680 0.00006
NM_000481.4(AMT):c.401A>G (p.Asn134Ser) rs776832405 0.00006
NM_000481.4(AMT):c.555C>T (p.Pro185=) rs144790394 0.00006
NM_000481.4(AMT):c.91-9C>T rs761235679 0.00006
NM_000481.4(AMT):c.231G>A (p.Ser77=) rs779002947 0.00005
NM_000481.4(AMT):c.436G>A (p.Ala146Thr) rs570868528 0.00005
NM_000481.4(AMT):c.91-8G>A rs375632843 0.00005
NM_000481.4(AMT):c.*407T>C rs761498529 0.00004
NM_000481.4(AMT):c.*86G>T rs745685639 0.00004
NM_000481.4(AMT):c.1097C>T (p.Pro366Leu) rs201400089 0.00004
NM_000481.4(AMT):c.148G>C (p.Val50Leu) rs148917929 0.00004
NM_000481.4(AMT):c.195C>T (p.His65=) rs145243292 0.00004
NM_000481.4(AMT):c.203C>T (p.Ser68Leu) rs759015013 0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422 0.00004
NM_000481.4(AMT):c.283G>A (p.Val95Met) rs183396486 0.00004
NM_000481.4(AMT):c.403A>G (p.Thr135Ala) rs768698117 0.00004
NM_000481.4(AMT):c.642C>T (p.Gly214=) rs759245586 0.00004
NM_000481.4(AMT):c.752C>G (p.Pro251Arg) rs770999859 0.00004
NM_000481.4(AMT):c.789C>T (p.Ser263=) rs753177107 0.00004
NM_000481.4(AMT):c.944G>A (p.Arg315Lys) rs376366324 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000481.4(AMT):c.962T>C (p.Val321Ala) rs766509002 0.00004
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245 0.00003
NM_000481.4(AMT):c.1202C>A (p.Thr401Asn) rs752952950 0.00003
NM_000481.4(AMT):c.174A>G (p.Pro58=) rs1356238437 0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_000481.4(AMT):c.472-6T>C rs750153849 0.00003
NM_000481.4(AMT):c.583G>A (p.Val195Met) rs372496075 0.00003
NM_000481.4(AMT):c.705G>A (p.Val235=) rs1324646911 0.00003
NM_000481.4(AMT):c.878-1G>A rs181134220 0.00003
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_000481.4(AMT):c.953G>A (p.Arg318Gln) rs755780814 0.00003
NM_000481.4(AMT):c.100C>T (p.Arg34Cys) rs143389339 0.00002
NM_000481.4(AMT):c.1021G>A (p.Gly341Ser) rs769609020 0.00002
NM_000481.4(AMT):c.1141C>T (p.Arg381Trp) rs775324601 0.00002
NM_000481.4(AMT):c.248A>G (p.His83Arg) rs1467607949 0.00002
NM_000481.4(AMT):c.431C>T (p.Ser144Phe) rs147482804 0.00002
NM_000481.4(AMT):c.434A>G (p.Asn145Ser) rs386833682 0.00002
NM_000481.4(AMT):c.503G>C (p.Arg168Thr) rs200058579 0.00002
NM_000481.4(AMT):c.522G>T (p.Val174=) rs768025952 0.00002
NM_000481.4(AMT):c.529A>G (p.Asn177Asp) rs771657567 0.00002
NM_000481.4(AMT):c.584T>C (p.Val195Ala) rs752740839 0.00002
NM_000481.4(AMT):c.657C>T (p.Arg219=) rs976237396 0.00002
NM_000481.4(AMT):c.658G>A (p.Val220Met) rs199638653 0.00002
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826 0.00002
NM_000481.4(AMT):c.*616C>T rs1477520548 0.00001
NM_000481.4(AMT):c.1029G>A (p.Lys343=) rs1553638253 0.00001
NM_000481.4(AMT):c.1034-14T>C rs772896226 0.00001
NM_000481.4(AMT):c.1038T>C (p.Thr346=) rs532787574 0.00001
NM_000481.4(AMT):c.1083G>A (p.Ala361=) rs753899057 0.00001
NM_000481.4(AMT):c.1092T>C (p.Tyr364=) rs764246902 0.00001
NM_000481.4(AMT):c.1095G>A (p.Val365=) rs1367905315 0.00001
NM_000481.4(AMT):c.1101C>T (p.Cys367=) rs753150990 0.00001
NM_000481.4(AMT):c.110C>T (p.Pro37Leu) rs202225151 0.00001
NM_000481.4(AMT):c.111G>A (p.Pro37=) rs754165977 0.00001
NM_000481.4(AMT):c.1140G>C (p.Val380=) rs746645414 0.00001
NM_000481.4(AMT):c.1157T>C (p.Met386Thr) rs757170367 0.00001
NM_000481.4(AMT):c.123C>T (p.Phe41=) rs774066970 0.00001
NM_000481.4(AMT):c.126C>T (p.His42=) rs761195733 0.00001
NM_000481.4(AMT):c.135C>T (p.His45=) rs773881893 0.00001
NM_000481.4(AMT):c.139G>A (p.Gly47Arg) rs121964982 0.00001
NM_000481.4(AMT):c.141G>A (p.Gly47=) rs1286962248 0.00001
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463 0.00001
NM_000481.4(AMT):c.158C>T (p.Ala53Val) rs746916262 0.00001
NM_000481.4(AMT):c.170T>C (p.Leu57Pro) rs1439129399 0.00001
NM_000481.4(AMT):c.173C>T (p.Pro58Leu) rs1008341193 0.00001
NM_000481.4(AMT):c.183C>T (p.Tyr61=) rs2049116527 0.00001
NM_000481.4(AMT):c.198T>C (p.Thr66=) rs151231828 0.00001
NM_000481.4(AMT):c.204G>A (p.Ser68=) rs544165488 0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603 0.00001
NM_000481.4(AMT):c.218G>A (p.Arg73His) rs928833763 0.00001
NM_000481.4(AMT):c.298A>G (p.Ser100Gly) rs994868932 0.00001
NM_000481.4(AMT):c.317T>C (p.Ile106Thr) rs1249645541 0.00001
NM_000481.4(AMT):c.339+1G>A rs1575308129 0.00001
NM_000481.4(AMT):c.340-19C>T rs529076810 0.00001
NM_000481.4(AMT):c.350C>T (p.Ser117Leu) rs769468125 0.00001
NM_000481.4(AMT):c.399C>T (p.Thr133=) rs1638775910 0.00001
NM_000481.4(AMT):c.425T>G (p.Val142Gly) rs753217454 0.00001
NM_000481.4(AMT):c.435C>T (p.Asn145=) rs1318110345 0.00001
NM_000481.4(AMT):c.441C>G (p.Gly147=) rs2049076356 0.00001
NM_000481.4(AMT):c.443G>T (p.Cys148Phe) rs140697432 0.00001
NM_000481.4(AMT):c.459G>A (p.Leu153=) rs1054393564 0.00001
NM_000481.4(AMT):c.462C>T (p.Ala154=) rs1192215555 0.00001
NM_000481.4(AMT):c.471+7C>G rs776638071 0.00001
NM_000481.4(AMT):c.471+7C>T rs776638071 0.00001
NM_000481.4(AMT):c.471+9C>T rs760770619 0.00001
NM_000481.4(AMT):c.476A>G (p.Lys159Arg) rs1553638556 0.00001
NM_000481.4(AMT):c.496C>T (p.Gln166Ter) rs558998633 0.00001
NM_000481.4(AMT):c.516G>A (p.Leu172=) rs1281064499 0.00001
NM_000481.4(AMT):c.519G>A (p.Glu173=) rs376777888 0.00001
NM_000481.4(AMT):c.546G>A (p.Leu182=) rs1231853585 0.00001
NM_000481.4(AMT):c.551-20C>T rs770272854 0.00001
NM_000481.4(AMT):c.551-8G>C rs1198266542 0.00001
NM_000481.4(AMT):c.566A>C (p.Gln189Pro) rs1371408104 0.00001
NM_000481.4(AMT):c.576G>A (p.Gln192=) rs1318971313 0.00001
NM_000481.4(AMT):c.579C>T (p.Ala193=) rs749313171 0.00001
NM_000481.4(AMT):c.613A>G (p.Met205Val) rs766904475 0.00001
NM_000481.4(AMT):c.618C>T (p.Thr206=) rs1361089893 0.00001
NM_000481.4(AMT):c.638T>G (p.Phe213Cys) rs963795935 0.00001
NM_000481.4(AMT):c.656G>A (p.Arg219His) rs202043041 0.00001
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698 0.00001
NM_000481.4(AMT):c.665G>A (p.Arg222His) rs562695274 0.00001
NM_000481.4(AMT):c.684G>A (p.Glu228=) rs2049057695 0.00001
NM_000481.4(AMT):c.696+10G>T rs750787542 0.00001
NM_000481.4(AMT):c.697-11G>A rs751099729 0.00001
NM_000481.4(AMT):c.697-35G>C rs746080712 0.00001
NM_000481.4(AMT):c.702G>A (p.Ser234=) rs761701860 0.00001
NM_000481.4(AMT):c.750C>T (p.Asn250=) rs141324034 0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys) rs779483959 0.00001
NM_000481.4(AMT):c.798G>A (p.Leu266=) rs749832818 0.00001
NM_000481.4(AMT):c.807C>A (p.Gly269=) rs200176736 0.00001
NM_000481.4(AMT):c.826G>C (p.Asp276His) rs121964984 0.00001
NM_000481.4(AMT):c.830T>C (p.Ile277Thr) rs1052014497 0.00001
NM_000481.4(AMT):c.847C>T (p.Pro283Ser) rs771214835 0.00001
NM_000481.4(AMT):c.852G>A (p.Val284=) rs749481166 0.00001
NM_000481.4(AMT):c.877+10G>A rs1292050339 0.00001
NM_000481.4(AMT):c.878-16_878-15del rs759562642 0.00001
NM_000481.4(AMT):c.878-5T>G rs945551152 0.00001
NM_000481.4(AMT):c.879G>C (p.Gly293=) rs972670254 0.00001
NM_000481.4(AMT):c.883C>T (p.Arg295Cys) rs891522376 0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter) rs766422988 0.00001
NM_000481.4(AMT):c.890G>A (p.Arg297Gln) rs770048404 0.00001
NM_000481.4(AMT):c.891A>G (p.Arg297=) rs763216113 0.00001
NM_000481.4(AMT):c.897T>C (p.Ala299=) rs371771461 0.00001
NM_000481.4(AMT):c.939G>A (p.Lys313=) rs1382062787 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_000481.4(AMT):c.972G>A (p.Met324Ile) rs773215128 0.00001
NM_000481.4(AMT):c.982G>A (p.Ala328Thr) rs765464808 0.00001
NM_000481.4(AMT):c.996dup (p.His333fs) rs2049025668 0.00001
NC_000003.11:g.(?_49454201)_(49457785_?)del
NC_000003.11:g.(?_49454973)_(49456604_?)del
NC_000003.12:g.(?_49419700)_(49419798_?)dup
NM_000481.4(AMT):c.*621A>G rs2049007839
NM_000481.4(AMT):c.1001G>T (p.Ser334Ile) rs2107929053
NM_000481.4(AMT):c.1002T>C (p.Ser334=)
NM_000481.4(AMT):c.1005C>T (p.Pro335=) rs2107929049
NM_000481.4(AMT):c.1008C>T (p.Ile336=)
NM_000481.4(AMT):c.1009C>T (p.Leu337=)
NM_000481.4(AMT):c.1011G>C (p.Leu337=) rs1339213409
NM_000481.4(AMT):c.102C>T (p.Arg34=)
NM_000481.4(AMT):c.1030A>T (p.Ile344Phe) rs2049024917
NM_000481.4(AMT):c.1033+10C>T
NM_000481.4(AMT):c.1033+13G>C
NM_000481.4(AMT):c.1033+17A>G
NM_000481.4(AMT):c.1033+18G>A
NM_000481.4(AMT):c.1033+18G>C
NM_000481.4(AMT):c.1033+1G>A
NM_000481.4(AMT):c.1033+1G>C rs2107928969
NM_000481.4(AMT):c.1033+2T>C rs1553638247
NM_000481.4(AMT):c.1033+2dup rs976598152
NM_000481.4(AMT):c.1033+5G>A
NM_000481.4(AMT):c.1034-11T>G
NM_000481.4(AMT):c.1034-16T>C
NM_000481.4(AMT):c.1034-19G>A
NM_000481.4(AMT):c.1034-1G>C rs1575302765
NM_000481.4(AMT):c.1034-1dup rs1238918084
NM_000481.4(AMT):c.1034-30_1034-18dup rs2107928803
NM_000481.4(AMT):c.1034-6T>C
NM_000481.4(AMT):c.1034-8C>T
NM_000481.4(AMT):c.1039G>C (p.Val347Leu)
NM_000481.4(AMT):c.1040T>C (p.Val347Ala)
NM_000481.4(AMT):c.1040dup (p.Thr348fs)
NM_000481.4(AMT):c.104G>A (p.Arg35Lys)
NM_000481.4(AMT):c.1053C>T (p.Cys351=) rs747901545
NM_000481.4(AMT):c.1056del (p.Ser353fs) rs2049022161
NM_000481.4(AMT):c.1058C>A (p.Ser353Tyr) rs768293167
NM_000481.4(AMT):c.1059C>T (p.Ser353=)
NM_000481.4(AMT):c.1062C>G (p.Pro354=) rs377227163
NM_000481.4(AMT):c.1062C>T (p.Pro354=) rs377227163
NM_000481.4(AMT):c.1063dup (p.Ser355fs)
NM_000481.4(AMT):c.1066_1067del (p.Leu356fs)
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del) rs768940499
NM_000481.4(AMT):c.1073A>C (p.Lys358Thr)
NM_000481.4(AMT):c.1076A>C (p.Asn359Thr) rs2107928652
NM_000481.4(AMT):c.1077T>C (p.Asn359=) rs1559527521
NM_000481.4(AMT):c.1079_1080del (p.Val360fs)
NM_000481.4(AMT):c.1087G>A (p.Gly363Ser)
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.1089T>C (p.Gly363=)
NM_000481.4(AMT):c.108A>C (p.Thr36=) rs1179441264
NM_000481.4(AMT):c.108A>G (p.Thr36=)
NM_000481.4(AMT):c.1098C>T (p.Pro366=) rs1231229906
NM_000481.4(AMT):c.1101C>A (p.Cys367Ter)
NM_000481.4(AMT):c.1102G>T (p.Glu368Ter)
NM_000481.4(AMT):c.1104G>A (p.Glu368=) rs767969842
NM_000481.4(AMT):c.1107_1108del (p.Tyr369_Ser370delinsTer) rs2049020585
NM_000481.4(AMT):c.1108A>G (p.Ser370Gly)
NM_000481.4(AMT):c.1111C>T (p.Arg371Cys) rs1200405341
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000481.4(AMT):c.1122A>G (p.Thr374=) rs2107928529
NM_000481.4(AMT):c.1124T>C (p.Met375Thr)
NM_000481.4(AMT):c.1128G>C (p.Leu376=) rs2107928524
NM_000481.4(AMT):c.1131G>A (p.Leu377=)
NM_000481.4(AMT):c.1134A>C (p.Val378=) rs2107928520
NM_000481.4(AMT):c.1138G>A (p.Val380Met) rs1306590343
NM_000481.4(AMT):c.1141C>A (p.Arg381=) rs775324601
NM_000481.4(AMT):c.1142G>A (p.Arg381Gln)
NM_000481.4(AMT):c.1150CAG[1] (p.Gln385del) rs747544827
NM_000481.4(AMT):c.1153C>T (p.Gln385Ter) rs1553638206
NM_000481.4(AMT):c.1155G>C (p.Gln385His)
NM_000481.4(AMT):c.1162G>A (p.Val388Ile)
NM_000481.4(AMT):c.1164A>C (p.Val388=)
NM_000481.4(AMT):c.116A>G (p.Tyr39Cys)
NM_000481.4(AMT):c.116_117del (p.Leu38_Tyr39insTer)
NM_000481.4(AMT):c.1181T>C (p.Phe394Ser)
NM_000481.4(AMT):c.1187C>T (p.Pro396Leu)
NM_000481.4(AMT):c.1190C>A (p.Thr397Lys) rs886058683
NM_000481.4(AMT):c.1191A>C (p.Thr397=) rs2107928409
NM_000481.4(AMT):c.1191A>G (p.Thr397=)
NM_000481.4(AMT):c.1197C>T (p.Tyr399=) rs756452579
NM_000481.4(AMT):c.1198T>C (p.Tyr400His)
NM_000481.4(AMT):c.1199A>C (p.Tyr400Ser)
NM_000481.4(AMT):c.1199A>G (p.Tyr400Cys) rs201548428
NM_000481.4(AMT):c.1199_1202delinsTAT (p.Tyr400fs) rs1553638191
NM_000481.4(AMT):c.1203C>T (p.Thr401=) rs1489152600
NM_000481.4(AMT):c.1204C>T (p.Leu402Phe)
NM_000481.4(AMT):c.1204_1206del (p.Leu402del) rs1559527384
NM_000481.4(AMT):c.1206C>G (p.Leu402=) rs2107928357
NM_000481.4(AMT):c.1209del (p.Lys403fs) rs1553638189
NM_000481.4(AMT):c.125A>G (p.His42Arg) rs121964983
NM_000481.4(AMT):c.127C>T (p.Leu43=)
NM_000481.4(AMT):c.130G>A (p.Ala44Thr) rs2049118414
NM_000481.4(AMT):c.132C>T (p.Ala44=)
NM_000481.4(AMT):c.136G>A (p.Gly46Ser)
NM_000481.4(AMT):c.138C>T (p.Gly46=)
NM_000481.4(AMT):c.139G>T (p.Gly47Trp) rs121964982
NM_000481.4(AMT):c.144_148del (p.Lys48fs) rs1553638822
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
NM_000481.4(AMT):c.148del (p.Val50fs) rs386833678
NM_000481.4(AMT):c.150G>A (p.Val50=)
NM_000481.4(AMT):c.153G>T (p.Ala51=) rs768510463
NM_000481.4(AMT):c.155T>C (p.Phe52Ser) rs2107937639
NM_000481.4(AMT):c.155T>G (p.Phe52Cys) rs2107937639
NM_000481.4(AMT):c.156T>C (p.Phe52=) rs993993334
NM_000481.4(AMT):c.159G>C (p.Ala53=) rs201080782
NM_000481.4(AMT):c.164G>A (p.Trp55Ter) rs1559530507
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer) rs1483890972
NM_000481.4(AMT):c.168_171del (p.Leu57fs) rs2107937574
NM_000481.4(AMT):c.171G>T (p.Leu57=) rs2107937565
NM_000481.4(AMT):c.175G>A (p.Val59Met)
NM_000481.4(AMT):c.178C>T (p.Gln60Ter) rs2107937536
NM_000481.4(AMT):c.184C>T (p.Arg62Trp)
NM_000481.4(AMT):c.185G>A (p.Arg62Gln)
NM_000481.4(AMT):c.186G>C (p.Arg62=) rs2049116342
NM_000481.4(AMT):c.188A>G (p.Asp63Gly) rs2107937495
NM_000481.4(AMT):c.189C>G (p.Asp63Glu)
NM_000481.4(AMT):c.196A>G (p.Thr66Ala) rs2049115954
NM_000481.4(AMT):c.216A>G (p.Thr72=) rs2049115116
NM_000481.4(AMT):c.217C>G (p.Arg73Gly)
NM_000481.4(AMT):c.221del (p.Gln74fs) rs2107937370
NM_000481.4(AMT):c.222G>A (p.Gln74=) rs2107937363
NM_000481.4(AMT):c.224del (p.His75fs) rs2107937352
NM_000481.4(AMT):c.228C>T (p.Cys76=)
NM_000481.4(AMT):c.230C>A (p.Ser77Ter) rs386833680
NM_000481.4(AMT):c.235T>A (p.Phe79Ile)
NM_000481.4(AMT):c.236_237del (p.Leu78_Phe79insTer)
NM_000481.4(AMT):c.240C>T (p.Asp80=) rs1316776129
NM_000481.4(AMT):c.241G>A (p.Val81Met)
NM_000481.4(AMT):c.242T>C (p.Val81Ala)
NM_000481.4(AMT):c.248A>C (p.His83Pro)
NM_000481.4(AMT):c.250_251del (p.Met84fs)
NM_000481.4(AMT):c.251T>A (p.Met84Lys)
NM_000481.4(AMT):c.256C>T (p.Gln86Ter) rs1575308888
NM_000481.4(AMT):c.257dup (p.Thr87fs) rs2107937267
NM_000481.4(AMT):c.258+10G>A rs2107937238
NM_000481.4(AMT):c.258+13A>G
NM_000481.4(AMT):c.258+14G>A
NM_000481.4(AMT):c.258+17C>T
NM_000481.4(AMT):c.258+19C>G
NM_000481.4(AMT):c.258+1G>A
NM_000481.4(AMT):c.258+6C>G rs1451725049
NM_000481.4(AMT):c.258+8del
NM_000481.4(AMT):c.259-13A>G
NM_000481.4(AMT):c.259-16T>C
NM_000481.4(AMT):c.259-1G>C rs386833681
NM_000481.4(AMT):c.259-20G>A
NM_000481.4(AMT):c.259-2A>C rs748522054
NM_000481.4(AMT):c.259-2A>T
NM_000481.4(AMT):c.259-4C>T rs769933849
NM_000481.4(AMT):c.259-6C>T rs2049102970
NM_000481.4(AMT):c.259-8dup rs1195350527
NM_000481.4(AMT):c.259-9C>T rs2107936124
NM_000481.4(AMT):c.261C>G (p.Thr87=)
NM_000481.4(AMT):c.264_265dup (p.Ile89fs)
NM_000481.4(AMT):c.269_270delinsCC (p.Leu90Pro) rs2107936070
NM_000481.4(AMT):c.270T>C (p.Leu90=)
NM_000481.4(AMT):c.271_273del (p.Gly91del) rs2107936054
NM_000481.4(AMT):c.279C>T (p.Asp93=) rs1575308228
NM_000481.4(AMT):c.281G>A (p.Arg94Gln)
NM_000481.4(AMT):c.282G>A (p.Arg94=)
NM_000481.4(AMT):c.285G>A (p.Val95=) rs2049102202
NM_000481.4(AMT):c.288G>A (p.Lys96=)
NM_000481.4(AMT):c.289C>T (p.Leu97=)
NM_000481.4(AMT):c.293T>G (p.Met98Arg) rs2107935989
NM_000481.4(AMT):c.297G>A (p.Glu99=) rs2107935984
NM_000481.4(AMT):c.303A>G (p.Leu101=) rs756789501
NM_000481.4(AMT):c.306G>A (p.Val102=)
NM_000481.4(AMT):c.306G>C (p.Val102=) rs964800487
NM_000481.4(AMT):c.311G>A (p.Gly104Glu) rs753221440
NM_000481.4(AMT):c.324G>A (p.Glu108=)
NM_000481.4(AMT):c.335A>G (p.Asn112Ser) rs2107935915
NM_000481.4(AMT):c.339+15T>C
NM_000481.4(AMT):c.339+17C>T
NM_000481.4(AMT):c.339+18T>G
NM_000481.4(AMT):c.339+2T>C
NM_000481.4(AMT):c.339+3G>A rs752570901
NM_000481.4(AMT):c.339+3G>T rs752570901
NM_000481.4(AMT):c.339+8C>A
NM_000481.4(AMT):c.340-10T>C
NM_000481.4(AMT):c.340-12C>T
NM_000481.4(AMT):c.340-13A>T
NM_000481.4(AMT):c.340-17C>T
NM_000481.4(AMT):c.340-18G>A
NM_000481.4(AMT):c.340-9T>C rs2107933861
NM_000481.4(AMT):c.340-9del
NM_000481.4(AMT):c.341G>A (p.Gly114Glu) rs1575306589
NM_000481.4(AMT):c.345A>T (p.Thr115=)
NM_000481.4(AMT):c.346C>T (p.Leu116=)
NM_000481.4(AMT):c.348_349del (p.Ser117fs) rs1553638649
NM_000481.4(AMT):c.351G>A (p.Ser117=)
NM_000481.4(AMT):c.357T>C (p.Phe119=) rs1559529373
NM_000481.4(AMT):c.359C>G (p.Thr120Ser)
NM_000481.4(AMT):c.359C>T (p.Thr120Ile) rs766350668
NM_000481.4(AMT):c.360C>T (p.Thr120=)
NM_000481.4(AMT):c.362A>G (p.Asn121Ser) rs2049078071
NM_000481.4(AMT):c.364G>A (p.Glu122Lys)
NM_000481.4(AMT):c.371G>A (p.Gly124Glu) rs1575306496
NM_000481.4(AMT):c.372A>C (p.Gly124=) rs1365568599
NM_000481.4(AMT):c.381A>G (p.Leu127=) rs2049077607
NM_000481.4(AMT):c.381_383delinsGG (p.Asp128fs) rs2107933735
NM_000481.4(AMT):c.383del (p.Asp128fs) rs2107933731
NM_000481.4(AMT):c.387C>T (p.Asp129=)
NM_000481.4(AMT):c.393T>C (p.Ile131=) rs2107933716
NM_000481.4(AMT):c.402T>C (p.Asn134=) rs2107933698
NM_000481.4(AMT):c.414C>T (p.Gly138=)
NM_000481.4(AMT):c.415C>G (p.His139Asp)
NM_000481.4(AMT):c.419dup (p.Tyr141fs)
NM_000481.4(AMT):c.423T>C (p.Tyr141=)
NM_000481.4(AMT):c.432C>G (p.Ser144=) rs2107933634
NM_000481.4(AMT):c.434A>T (p.Asn145Ile) rs386833682
NM_000481.4(AMT):c.448G>A (p.Glu150Lys)
NM_000481.4(AMT):c.450G>A (p.Glu150=)
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.457T>C (p.Leu153=)
NM_000481.4(AMT):c.467T>C (p.Met156Thr) rs2107933555
NM_000481.4(AMT):c.471+10C>G
NM_000481.4(AMT):c.471+10C>T
NM_000481.4(AMT):c.471+10del
NM_000481.4(AMT):c.471+10dup
NM_000481.4(AMT):c.471+11T>C
NM_000481.4(AMT):c.471+12_471+13del rs370772505
NM_000481.4(AMT):c.471+14G>A
NM_000481.4(AMT):c.471+19C>A
NM_000481.4(AMT):c.471+20T>C
NM_000481.4(AMT):c.471+2T>C rs386833684
NM_000481.4(AMT):c.471+2_471+7del
NM_000481.4(AMT):c.471+8C>T rs367986797
NM_000481.4(AMT):c.471+9C>A rs760770619
NM_000481.4(AMT):c.471+9C>G
NM_000481.4(AMT):c.472-10T>C rs1211622746
NM_000481.4(AMT):c.472-11C>T
NM_000481.4(AMT):c.472-17G>C
NM_000481.4(AMT):c.472-19T>C
NM_000481.4(AMT):c.472-19_472-18del
NM_000481.4(AMT):c.472-2A>T rs2107932966
NM_000481.4(AMT):c.472-7C>T
NM_000481.4(AMT):c.472-8T>C
NM_000481.4(AMT):c.472-9G>A
NM_000481.4(AMT):c.474C>T (p.Asp158=) rs765176362
NM_000481.4(AMT):c.477G>A (p.Lys159=) rs2107932948
NM_000481.4(AMT):c.478del (p.Val160fs) rs1575305901
NM_000481.4(AMT):c.486G>A (p.Glu162=)
NM_000481.4(AMT):c.489T>G (p.Leu163=)
NM_000481.4(AMT):c.490C>T (p.Gln164Ter)
NM_000481.4(AMT):c.495C>T (p.Asn165=)
NM_000481.4(AMT):c.501C>A (p.Gly167=)
NM_000481.4(AMT):c.501C>G (p.Gly167=)
NM_000481.4(AMT):c.502A>C (p.Arg168=) rs2107932896
NM_000481.4(AMT):c.512G>A (p.Gly171Asp)
NM_000481.4(AMT):c.513C>T (p.Gly171=) rs555045517
NM_000481.4(AMT):c.514C>T (p.Leu172=)
NM_000481.4(AMT):c.515T>C (p.Leu172Pro) rs1366977126
NM_000481.4(AMT):c.522G>A (p.Val174=)
NM_000481.4(AMT):c.523T>C (p.Leu175=) rs535318089
NM_000481.4(AMT):c.526G>A (p.Asp176Asn)
NM_000481.4(AMT):c.531T>C (p.Asn177=) rs2049066669
NM_000481.4(AMT):c.533C>T (p.Ala178Val)
NM_000481.4(AMT):c.534C>T (p.Ala178=) rs928504970
NM_000481.4(AMT):c.534_535dup (p.Leu179fs)
NM_000481.4(AMT):c.535del (p.Leu179fs) rs386833685
NM_000481.4(AMT):c.538C>T (p.Leu180=) rs1559528976
NM_000481.4(AMT):c.546G>T (p.Leu182=)
NM_000481.4(AMT):c.550+10C>G
NM_000481.4(AMT):c.550+10_550+15del
NM_000481.4(AMT):c.550+12G>A
NM_000481.4(AMT):c.550+16T>C
NM_000481.4(AMT):c.550+17G>A
NM_000481.4(AMT):c.550+18G>C
NM_000481.4(AMT):c.550+5G>A
NM_000481.4(AMT):c.550+7G>A rs755478633
NM_000481.4(AMT):c.550+9G>A
NM_000481.4(AMT):c.550+9G>T
NM_000481.4(AMT):c.551-11C>T rs760119523
NM_000481.4(AMT):c.551-15G>A
NM_000481.4(AMT):c.551-17T>C
NM_000481.4(AMT):c.551-18C>G
NM_000481.4(AMT):c.551-4C>T
NM_000481.4(AMT):c.551-6G>A rs937463808
NM_000481.4(AMT):c.551-9T>C
NM_000481.4(AMT):c.552C>A (p.Gly184=)
NM_000481.4(AMT):c.552C>T (p.Gly184=) rs771745221
NM_000481.4(AMT):c.561A>C (p.Ala187=) rs2107932359
NM_000481.4(AMT):c.562G>A (p.Ala188Thr)
NM_000481.4(AMT):c.564C>A (p.Ala188=)
NM_000481.4(AMT):c.565C>T (p.Gln189Ter)
NM_000481.4(AMT):c.574C>T (p.Gln192Ter) rs121964986
NM_000481.4(AMT):c.578C>G (p.Ala193Gly)
NM_000481.4(AMT):c.579C>A (p.Ala193=) rs749313171
NM_000481.4(AMT):c.580G>A (p.Gly194Ser)
NM_000481.4(AMT):c.582C>A (p.Gly194=) rs377552553
NM_000481.4(AMT):c.585G>A (p.Val195=) rs2049060090
NM_000481.4(AMT):c.589G>A (p.Asp197Asn) rs200550585
NM_000481.4(AMT):c.591T>C (p.Asp197=) rs2107932258
NM_000481.4(AMT):c.597G>A (p.Leu199=)
NM_000481.4(AMT):c.602_603del (p.Lys201fs) rs1279743247
NM_000481.4(AMT):c.609C>A (p.Pro203=) rs1314175857
NM_000481.4(AMT):c.609dup (p.Phe204fs) rs2107932226
NM_000481.4(AMT):c.614T>G (p.Met205Arg) rs2107932197
NM_000481.4(AMT):c.621T>C (p.Ser207=) rs2107932184
NM_000481.4(AMT):c.624T>C (p.Ala208=)
NM_000481.4(AMT):c.625G>A (p.Val209Met) rs370287514
NM_000481.4(AMT):c.627del (p.Met210fs)
NM_000481.4(AMT):c.633G>A (p.Glu211=)
NM_000481.4(AMT):c.643G>A (p.Val215Met) rs1030915796
NM_000481.4(AMT):c.643G>C (p.Val215Leu) rs1030915796
NM_000481.4(AMT):c.645_646del (p.Ser216fs)
NM_000481.4(AMT):c.648T>C (p.Ser216=)
NM_000481.4(AMT):c.651C>T (p.Gly217=) rs1256823141
NM_000481.4(AMT):c.654C>T (p.Cys218=)
NM_000481.4(AMT):c.655C>T (p.Arg219Cys)
NM_000481.4(AMT):c.657dup (p.Val220fs) rs2049058298
NM_000481.4(AMT):c.663C>A (p.Thr221=) rs2107932078
NM_000481.4(AMT):c.664C>A (p.Arg222Ser) rs781466698
NM_000481.4(AMT):c.665G>T (p.Arg222Leu) rs562695274
NM_000481.4(AMT):c.666C>A (p.Arg222=) rs2107932060
NM_000481.4(AMT):c.666C>T (p.Arg222=) rs2107932060
NM_000481.4(AMT):c.669T>A (p.Cys223Ter)
NM_000481.4(AMT):c.669T>C (p.Cys223=) rs2107932045
NM_000481.4(AMT):c.672_680del (p.Tyr225_Gly227del)
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys) rs386833689
NM_000481.4(AMT):c.677C>T (p.Thr226Ile) rs2107932030
NM_000481.4(AMT):c.681A>G (p.Gly227=) rs2107932020
NM_000481.4(AMT):c.683_684del (p.Glu228fs)
NM_000481.4(AMT):c.685G>C (p.Asp229His) rs1553638463
NM_000481.4(AMT):c.687T>C (p.Asp229=) rs1292063206
NM_000481.4(AMT):c.690T>C (p.Gly230=)
NM_000481.4(AMT):c.693G>A (p.Val231=)
NM_000481.4(AMT):c.695_696+21del rs1553638457
NM_000481.4(AMT):c.696+10G>A
NM_000481.4(AMT):c.696+15G>A
NM_000481.4(AMT):c.696+16_696+18del
NM_000481.4(AMT):c.696+19T>C
NM_000481.4(AMT):c.696+1G>A rs1553638460
NM_000481.4(AMT):c.696+20G>T
NM_000481.4(AMT):c.696+2T>A rs541594122
NM_000481.4(AMT):c.696+9A>G
NM_000481.4(AMT):c.696+9A>T rs758602446
NM_000481.4(AMT):c.696G>A (p.Glu232=) rs1352631535
NM_000481.4(AMT):c.697-10T>C rs2107931790
NM_000481.4(AMT):c.697-14G>A
NM_000481.4(AMT):c.697-17T>C
NM_000481.4(AMT):c.697-18C>T
NM_000481.4(AMT):c.697-19C>T
NM_000481.4(AMT):c.697-1G>A
NM_000481.4(AMT):c.697-20C>T
NM_000481.4(AMT):c.697-2A>C
NM_000481.4(AMT):c.697-2A>G
NM_000481.4(AMT):c.697-7C>T rs2107931789
NM_000481.4(AMT):c.697-8T>G
NM_000481.4(AMT):c.699C>A (p.Ile233=) rs369840558
NM_000481.4(AMT):c.705G>T (p.Val235=) rs1324646911
NM_000481.4(AMT):c.705_710dup (p.Pro236_Val237dup) rs1553638433
NM_000481.4(AMT):c.708G>A (p.Pro236=) rs760662679
NM_000481.4(AMT):c.708G>C (p.Pro236=)
NM_000481.4(AMT):c.714G>A (p.Ala238=) rs772179698
NM_000481.4(AMT):c.714G>C (p.Ala238=)
NM_000481.4(AMT):c.714G>T (p.Ala238=) rs772179698
NM_000481.4(AMT):c.714_724del (p.Gly239fs)
NM_000481.4(AMT):c.719C>T (p.Ala240Val)
NM_000481.4(AMT):c.721G>A (p.Val241Ile) rs1004875097
NM_000481.4(AMT):c.727C>A (p.Leu243Met) rs1575304886
NM_000481.4(AMT):c.732A>C (p.Ala244=)
NM_000481.4(AMT):c.732A>G (p.Ala244=) rs2049053045
NM_000481.4(AMT):c.734_735del (p.Thr245fs) rs2049052992
NM_000481.4(AMT):c.738T>A (p.Ala246=) rs746145744
NM_000481.4(AMT):c.738T>C (p.Ala246=)
NM_000481.4(AMT):c.753A>G (p.Pro251=)
NM_000481.4(AMT):c.754G>A (p.Glu252Lys)
NM_000481.4(AMT):c.756G>A (p.Glu252=)
NM_000481.4(AMT):c.757del (p.Glu252_Val253insTer)
NM_000481.4(AMT):c.765G>A (p.Leu255=)
NM_000481.4(AMT):c.768A>T (p.Ala256=)
NM_000481.4(AMT):c.771G>A (p.Gly257=) rs1575304815
NM_000481.4(AMT):c.771G>C (p.Gly257=)
NM_000481.4(AMT):c.771del (p.Leu258fs)
NM_000481.4(AMT):c.774G>A (p.Leu258=) rs756652661
NM_000481.4(AMT):c.786C>T (p.Asp262=)
NM_000481.4(AMT):c.796C>T (p.Leu266=)
NM_000481.4(AMT):c.797T>C (p.Leu266Pro) rs2049051428
NM_000481.4(AMT):c.805G>A (p.Gly269Ser) rs2049051018
NM_000481.4(AMT):c.806G>A (p.Gly269Asp) rs121964981
NM_000481.4(AMT):c.810C>T (p.Leu270=) rs2107931481
NM_000481.4(AMT):c.813C>T (p.Cys271=) rs2107931474
NM_000481.4(AMT):c.815dup (p.Tyr273fs)
NM_000481.4(AMT):c.819T>A (p.Tyr273Ter) rs2107931458
NM_000481.4(AMT):c.822_836dup (p.Glu279_His280insAsnAspIleAspGlu)
NM_000481.4(AMT):c.826G>A (p.Asp276Asn)
NM_000481.4(AMT):c.830T>A (p.Ile277Asn) rs1052014497
NM_000481.4(AMT):c.840C>T (p.His280=) rs759675831
NM_000481.4(AMT):c.841A>G (p.Thr281Ala)
NM_000481.4(AMT):c.843T>A (p.Thr281=)
NM_000481.4(AMT):c.843T>G (p.Thr281=) rs774244896
NM_000481.4(AMT):c.845C>T (p.Thr282Ile)
NM_000481.4(AMT):c.849T>A (p.Pro283=)
NM_000481.4(AMT):c.849dup (p.Val284fs) rs1553638408
NM_000481.4(AMT):c.850G>A (p.Val284Met) rs2107931384
NM_000481.4(AMT):c.855G>A (p.Glu285=) rs2049049754
NM_000481.4(AMT):c.856G>A (p.Gly286Ser) rs778159864
NM_000481.4(AMT):c.857G>A (p.Gly286Asp) rs2049049669
NM_000481.4(AMT):c.867T>C (p.Ser289=) rs1342940505
NM_000481.4(AMT):c.870G>A (p.Trp290Ter) rs797045082
NM_000481.4(AMT):c.875del (p.Leu292fs) rs1553638405
NM_000481.4(AMT):c.877+16A>C
NM_000481.4(AMT):c.877+17C>T
NM_000481.4(AMT):c.877+18T>C
NM_000481.4(AMT):c.877+4A>T rs2049049249
NM_000481.4(AMT):c.877+5G>A
NM_000481.4(AMT):c.877+7T>G rs2107931324
NM_000481.4(AMT):c.877+9G>A
NM_000481.4(AMT):c.877+9G>C
NM_000481.4(AMT):c.878-11del
NM_000481.4(AMT):c.878-12G>A
NM_000481.4(AMT):c.878-15T>C rs771225879
NM_000481.4(AMT):c.878-16A>T rs904011401
NM_000481.4(AMT):c.878-19C>G
NM_000481.4(AMT):c.878-19C>T
NM_000481.4(AMT):c.878-6dup rs2107929373
NM_000481.4(AMT):c.878-7T>C
NM_000481.4(AMT):c.878-7del
NM_000481.4(AMT):c.878-8T>C rs2107929385
NM_000481.4(AMT):c.878-9A>G
NM_000481.4(AMT):c.878G>A (p.Gly293Glu)
NM_000481.4(AMT):c.879G>A (p.Gly293=) rs972670254
NM_000481.4(AMT):c.886C>G (p.Arg296Gly)
NM_000481.4(AMT):c.886C>T (p.Arg296Cys) rs1056820947
NM_000481.4(AMT):c.887G>T (p.Arg296Leu) rs386833690
NM_000481.4(AMT):c.892G>A (p.Ala298Thr) rs2049028177
NM_000481.4(AMT):c.906C>T (p.Phe302=)
NM_000481.4(AMT):c.908del (p.Pro303fs) rs1575303218
NM_000481.4(AMT):c.91-10C>A
NM_000481.4(AMT):c.91-14C>T
NM_000481.4(AMT):c.91-17A>G rs2107937879
NM_000481.4(AMT):c.91-1G>T
NM_000481.4(AMT):c.91-20C>G
NM_000481.4(AMT):c.91-2A>G
NM_000481.4(AMT):c.91-7C>T rs758737016
NM_000481.4(AMT):c.911G>A (p.Gly304Glu) rs2049027770
NM_000481.4(AMT):c.923T>C (p.Ile308Thr)
NM_000481.4(AMT):c.928C>T (p.Pro310Ser)
NM_000481.4(AMT):c.930C>G (p.Pro310=)
NM_000481.4(AMT):c.930C>T (p.Pro310=)
NM_000481.4(AMT):c.931C>T (p.Gln311Ter)
NM_000481.4(AMT):c.946G>T (p.Val316Leu)
NM_000481.4(AMT):c.948G>A (p.Val316=) rs1575303144
NM_000481.4(AMT):c.950A>G (p.Gln317Arg) rs146114174
NM_000481.4(AMT):c.954_959delinsAAGGCA (p.Arg320His)
NM_000481.4(AMT):c.957G>A (p.Arg319=)
NM_000481.4(AMT):c.958C>G (p.Arg320Gly)
NM_000481.4(AMT):c.959G>T (p.Arg320Leu) rs121964985
NM_000481.4(AMT):c.95T>C (p.Val32Ala)
NM_000481.4(AMT):c.961G>C (p.Val321Leu)
NM_000481.4(AMT):c.964_976dup (p.Glu326delinsGlyValAspValTer)
NM_000481.4(AMT):c.965_966del (p.Gly322fs)
NM_000481.4(AMT):c.970_972del (p.Met324del) rs386833691
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs) rs386833692
NM_000481.4(AMT):c.982del (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_000481.4(AMT):c.987del (p.Met330fs) rs1278265933
NM_000481.4(AMT):c.991C>T (p.Arg331Trp)
NM_000481.4(AMT):c.992G>A (p.Arg331Gln) rs1368099067
NM_000481.4(AMT):c.999_1000del (p.His333fs)
NM_000481.4(AMT):c.99C>T (p.Leu33=) rs2107937805
NM_001164710.2(AMT):c.340-552del rs2107933839

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