ClinVar Miner

List of variants in gene ACE studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 422
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HGVS dbSNP gnomAD frequency
NM_000789.4(ACE):c.511+66A>G rs4296 0.99798
NM_000789.4(ACE):c.1119-202A>G rs4308 0.71560
NC_000017.11:g.63476980C>T rs4292 0.70610
NC_000017.11:g.63476833T>A rs4291 0.63435
NM_000789.4(ACE):c.418-70C>G rs4295 0.61390
NM_000789.4(ACE):c.1488-58T>C rs4311 0.60008
NM_000789.4(ACE):c.2328G>A (p.Thr776=) rs4343 0.56401
NM_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362 0.51177
NM_000789.4(ACE):c.3692-6G>A rs4363 0.50850
NM_000789.4(ACE):c.2305+88T>C rs4333 0.47706
NM_000789.4(ACE):c.2193A>G (p.Ala731=) rs4331 0.46564
NM_000789.4(ACE):c.2058+41T>C rs4321 0.45639
NM_000789.4(ACE):c.2218-66T>C rs4332 0.45632
NM_000789.4(ACE):c.2306-11A>C rs4342 0.45325
NM_000789.4(ACE):c.2306-19G>C rs4341 0.45043
NM_000789.4(ACE):c.1922-44G>A rs4320 0.45040
NM_000789.4(ACE):c.1922-288C>T rs4316 0.44701
NM_000789.4(ACE):c.848-223A>G rs4305 0.44507
NM_000789.4(ACE):c.417+207G>A rs4293 0.44291
NM_000789.4(ACE):c.1215C>T (p.Pro405=) rs4309 0.35804
NM_000789.4(ACE):c.2306-282A>G rs149968535 0.35770
NM_000789.4(ACE):c.582C>T (p.Asn194=) rs4298 0.15457
NM_000789.4(ACE):c.1586+67A>T rs4312 0.09721
NM_000789.4(ACE):c.1586+98C>T rs4313 0.09375
NM_000789.4(ACE):c.3282-103C>T rs4357 0.07431
NM_000789.4(ACE):c.2305+271C>G rs12720731 0.06525
NM_000789.4(ACE):c.3281+25C>T rs4354 0.06157
NM_000789.4(ACE):c.655+13C>T rs4300 0.05754
NM_000789.4(ACE):c.3380+76G>A rs4358 0.03767
NM_000789.4(ACE):c.847+50C>T rs4304 0.03698
NM_000789.4(ACE):c.3691+21del rs12720743 0.03562
NM_000789.4(ACE):c.3380+5C>T rs12720737 0.03115
NM_000789.4(ACE):c.781G>T (p.Ala261Ser) rs4303 0.02833
NM_000789.4(ACE):c.2306-283A>G rs1338579026 0.02694
NM_000789.4(ACE):c.3906G>A (p.Glu1302=) rs4365 0.02561
NM_000789.4(ACE):c.1586+19C>T rs12720747 0.02308
NM_000789.4(ACE):c.1775A>G (p.Asp592Gly) rs12709426 0.01536
NM_000789.4(ACE):c.3691+5C>T rs12720744 0.01507
NM_000789.4(ACE):c.731A>G (p.Tyr244Cys) rs3730025 0.01121
NM_000789.4(ACE):c.1119-8C>T rs114861086 0.00991
NM_000789.4(ACE):c.2787C>T (p.Thr929=) rs4348 0.00917
NM_000789.4(ACE):c.780C>T (p.Arg260=) rs4302 0.00838
NM_000789.4(ACE):c.975G>T (p.Val325=) rs61738840 0.00783
NM_000789.4(ACE):c.970C>T (p.Arg324Trp) rs35141294 0.00781
NM_000789.4(ACE):c.1060G>A (p.Gly354Arg) rs56394458 0.00732
NM_000789.4(ACE):c.656-9C>T rs12720734 0.00679
NM_000789.4(ACE):c.847+12G>A rs12709422 0.00678
NM_000789.4(ACE):c.2382G>A (p.Ala794=) rs61738817 0.00669
NM_000789.4(ACE):c.2187G>T (p.Arg729=) rs35553988 0.00661
NM_000789.4(ACE):c.3869G>A (p.Arg1290Gln) rs12720745 0.00622
NM_000789.4(ACE):c.2550C>G (p.Leu850=) rs4975 0.00609
NM_000789.4(ACE):c.3836G>A (p.Arg1279Gln) rs4980 0.00541
NM_000789.4(ACE):c.1038G>C (p.Ser346=) rs34680431 0.00493
NM_000789.4(ACE):c.1325G>A (p.Arg442His) rs35865660 0.00473
NM_000789.4(ACE):c.2979C>T (p.Ile993=) rs75067113 0.00452
NM_000789.4(ACE):c.2747C>T (p.Thr916Met) rs3730043 0.00420
NM_000789.4(ACE):c.417+8G>A rs114000559 0.00400
NM_000789.4(ACE):c.1681C>T (p.Arg561Trp) rs4314 0.00316
NM_000789.4(ACE):c.3304C>A (p.Pro1102Thr) rs145349565 0.00302
NM_000789.4(ACE):c.3560C>T (p.Thr1187Met) rs12709442 0.00274
NM_000789.4(ACE):c.2392A>G (p.Ile798Val) rs117647476 0.00224
NM_000789.4(ACE):c.547G>A (p.Ala183Thr) rs12720754 0.00195
NM_000789.4(ACE):c.209C>T (p.Ala70Val) rs372565955 0.00152
NM_000789.4(ACE):c.3801C>T (p.Ile1267=) rs144242912 0.00150
NM_000789.4(ACE):c.600G>A (p.Leu200=) rs4299 0.00150
NM_000789.4(ACE):c.1872C>T (p.Pro624=) rs138812566 0.00147
NM_000789.4(ACE):c.945+16A>G rs201274031 0.00142
NM_000789.4(ACE):c.3489C>T (p.Ala1163=) rs4979 0.00130
NM_000789.4(ACE):c.3053T>C (p.Ile1018Thr) rs4976 0.00123
NM_000789.4(ACE):c.799G>A (p.Gly267Arg) rs149412997 0.00111
NM_000789.4(ACE):c.1343-17A>G rs139287666 0.00106
NM_000789.4(ACE):c.3629C>T (p.Thr1210Met) rs12720742 0.00105
NM_000789.4(ACE):c.3132C>T (p.Ser1044=) rs150690061 0.00101
NM_000789.4(ACE):c.417+13C>T rs3729660 0.00100
NM_000789.4(ACE):c.1979C>G (p.Ser660Cys) rs147429960 0.00098
NM_000789.4(ACE):c.45G>C (p.Pro15=) rs1110991 0.00082
NM_000789.4(ACE):c.411G>T (p.Arg137=) rs3729659 0.00081
NM_000789.4(ACE):c.3045T>A (p.His1015Gln) rs144751624 0.00080
NM_000789.4(ACE):c.863A>G (p.Gln288Arg) rs199591851 0.00070
NM_000789.4(ACE):c.1229G>A (p.Arg410Gln) rs145172277 0.00068
NM_000789.4(ACE):c.503T>C (p.Leu168Pro) rs139076951 0.00060
NM_000789.4(ACE):c.479A>G (p.Asn160Ser) rs117134739 0.00056
NM_000789.4(ACE):c.5G>T (p.Gly2Val) rs558593002 0.00053
NM_000789.4(ACE):c.1454C>G (p.Pro485Arg) rs28730839 0.00052
NM_000789.4(ACE):c.1259T>C (p.Ile420Thr) rs144494842 0.00048
NM_000789.4(ACE):c.460G>A (p.Ala154Thr) rs13306087 0.00044
NM_000789.4(ACE):c.3363T>C (p.Ser1121=) rs200201337 0.00037
NM_000789.4(ACE):c.177G>A (p.Gln59=) rs147912715 0.00034
NM_000789.4(ACE):c.2932G>A (p.Val978Met) rs141750591 0.00032
NM_000789.4(ACE):c.3108C>A (p.Asn1036Lys) rs142947404 0.00032
NM_000789.4(ACE):c.465G>C (p.Lys155Asn) rs143320537 0.00032
NM_000789.4(ACE):c.3691+10C>T rs556274739 0.00030
NM_000789.4(ACE):c.2155C>T (p.Arg719Trp) rs200649158 0.00026
NM_000789.4(ACE):c.1513C>G (p.Pro505Ala) rs148943954 0.00025
NM_000789.4(ACE):c.2592C>T (p.Tyr864=) rs151293350 0.00025
NM_000789.4(ACE):c.3656T>C (p.Leu1219Pro) rs140941300 0.00025
NM_000789.4(ACE):c.3721G>A (p.Gly1241Ser) rs367916721 0.00023
NM_000789.4(ACE):c.1057G>A (p.Asp353Asn) rs148193919 0.00022
NM_000789.4(ACE):c.682C>T (p.Arg228Cys) rs141543325 0.00022
NM_000789.4(ACE):c.1317G>T (p.Leu439=) rs140529617 0.00020
NM_000789.4(ACE):c.250-8C>T rs201728139 0.00020
NM_000789.4(ACE):c.1459C>T (p.Arg487Cys) rs149784122 0.00019
NM_000789.4(ACE):c.2082C>G (p.Ala694=) rs150811476 0.00019
NM_000789.4(ACE):c.2299G>A (p.Glu767Lys) rs148995315 0.00019
NM_000789.4(ACE):c.2754G>A (p.Arg918=) rs145809210 0.00015
NM_000789.4(ACE):c.1688C>T (p.Thr563Ile) rs769142434 0.00014
NM_000789.4(ACE):c.2291T>A (p.Leu764Gln) rs145819052 0.00013
NM_000789.4(ACE):c.2791C>T (p.Leu931=) rs141180606 0.00013
NM_000789.4(ACE):c.3321T>G (p.Thr1107=) rs144974035 0.00013
NM_000789.4(ACE):c.2483T>C (p.Met828Thr) rs13306091 0.00012
NM_000789.4(ACE):c.349C>T (p.Leu117=) rs145692547 0.00012
NM_000789.4(ACE):c.3060C>T (p.Asp1020=) rs373427509 0.00011
NM_000789.4(ACE):c.3381-4C>T rs201962955 0.00011
NM_000789.4(ACE):c.3630G>A (p.Thr1210=) rs138240046 0.00011
NM_000789.4(ACE):c.477C>T (p.Pro159=) rs201285321 0.00011
NM_000789.4(ACE):c.1768G>A (p.Gly590Ser) rs762585402 0.00010
NM_000789.4(ACE):c.1020C>T (p.Pro340=) rs3730026 0.00009
NM_000789.4(ACE):c.2709G>A (p.Ser903=) rs537418583 0.00009
NM_000789.4(ACE):c.3805C>T (p.Leu1269=) rs369306676 0.00009
NM_000789.4(ACE):c.3868C>T (p.Arg1290Trp) rs752812293 0.00009
NM_000789.4(ACE):c.597G>T (p.Pro199=) rs747206108 0.00009
NM_000789.4(ACE):c.2317G>A (p.Val773Met) rs143830698 0.00008
NM_000789.4(ACE):c.2460T>C (p.Asp820=) rs138035588 0.00008
NM_000789.4(ACE):c.140A>G (p.Gln47Arg) rs767353320 0.00007
NM_000789.4(ACE):c.1915G>A (p.Gly639Ser) rs72845024 0.00007
NM_000789.4(ACE):c.1088C>T (p.Ala363Val) rs370491569 0.00006
NM_000789.4(ACE):c.1135C>T (p.Arg379Trp) rs750724647 0.00006
NM_000789.4(ACE):c.1767C>T (p.Val589=) rs140086153 0.00006
NM_000789.4(ACE):c.2858G>A (p.Arg953Gln) rs143507892 0.00006
NM_000789.4(ACE):c.1460G>A (p.Arg487His) rs376430907 0.00005
NM_000789.4(ACE):c.2881G>C (p.Ala961Pro) rs779833433 0.00005
NM_000789.4(ACE):c.3561G>A (p.Thr1187=) rs141429845 0.00005
NM_000789.4(ACE):c.3626G>A (p.Arg1209His) rs538166970 0.00005
NM_000789.4(ACE):c.1227T>C (p.Arg409=) rs373568007 0.00004
NM_000789.4(ACE):c.1274C>T (p.Ala425Val) rs372626836 0.00004
NM_000789.4(ACE):c.1522C>T (p.Arg508Ter) rs367797185 0.00004
NM_000789.4(ACE):c.549C>G (p.Ala183=) rs567841514 0.00004
NM_000789.4(ACE):c.1486C>T (p.Arg496Ter) rs397514688 0.00003
NM_000789.4(ACE):c.3226G>T (p.Val1076Leu) rs534480370 0.00003
NM_000789.4(ACE):c.507C>T (p.Asp169=) rs763352401 0.00003
NM_000789.4(ACE):c.1510C>T (p.Pro504Ser) rs778204413 0.00002
NM_000789.4(ACE):c.1693G>A (p.Ala565Thr) rs777339023 0.00002
NM_000789.4(ACE):c.22C>T (p.Arg8Trp) rs1333116255 0.00002
NM_000789.4(ACE):c.2371C>T (p.Arg791Ter) rs397514689 0.00002
NM_000789.4(ACE):c.253G>A (p.Glu85Lys) rs150382846 0.00002
NM_000789.4(ACE):c.2572C>T (p.Arg858Trp) rs762333619 0.00002
NM_000789.4(ACE):c.2585G>A (p.Arg862His) rs756018518 0.00002
NM_000789.4(ACE):c.3136+13C>T rs201976241 0.00002
NM_000789.4(ACE):c.714C>T (p.Asp238=) rs556856171 0.00002
NM_000789.4(ACE):c.12_31del (p.Ser5fs) rs797045079 0.00001
NM_000789.4(ACE):c.1389C>T (p.Ala463=) rs750404093 0.00001
NM_000789.4(ACE):c.1487G>A (p.Arg496Gln) rs761345398 0.00001
NM_000789.4(ACE):c.1635C>T (p.Cys545=) rs531131955 0.00001
NM_000789.4(ACE):c.1709+5G>C rs1198993903 0.00001
NM_000789.4(ACE):c.204C>G (p.Ser68Arg) rs1170287329 0.00001
NM_000789.4(ACE):c.2090C>A (p.Thr697Asn) rs765315607 0.00001
NM_000789.4(ACE):c.2217+11C>T rs745784432 0.00001
NM_000789.4(ACE):c.2250C>T (p.Thr750=) rs374690585 0.00001
NM_000789.4(ACE):c.2857C>T (p.Arg953Trp) rs772888815 0.00001
NM_000789.4(ACE):c.3090G>T (p.Lys1030Asn) rs374679629 0.00001
NM_000789.4(ACE):c.3168C>T (p.Ala1056=) rs1007334111 0.00001
NM_000789.4(ACE):c.412C>T (p.Gln138Ter) rs779422412 0.00001
NM_000789.4(ACE):c.447G>C (p.Arg149Ser) rs766945182 0.00001
NM_000789.4(ACE):c.59_69del (p.Leu20fs) rs752411292 0.00001
NM_000789.4(ACE):c.817C>T (p.Leu273Phe) rs1357918249 0.00001
NM_000789.4(ACE):c.928A>G (p.Ser310Gly) rs144137849 0.00001
NM_000789.4(ACE):c.960G>A (p.Thr320=) rs547724686 0.00001
NM_000789.3(ACE):c.-35_-33delGAG rs1085307676
NM_000789.4(ACE):c.1021G>A (p.Glu341Lys)
NM_000789.4(ACE):c.1021G>C (p.Glu341Gln)
NM_000789.4(ACE):c.1052C>T (p.Pro351Leu) rs2229839
NM_000789.4(ACE):c.1068A>G (p.Glu356=)
NM_000789.4(ACE):c.1081G>A (p.Ala361Thr)
NM_000789.4(ACE):c.1085C>T (p.Ser362Leu) rs142328237
NM_000789.4(ACE):c.1086G>A (p.Ser362=)
NM_000789.4(ACE):c.1098C>T (p.Phe366=)
NM_000789.4(ACE):c.1118+18G>A
NM_000789.4(ACE):c.1119-11C>G
NM_000789.4(ACE):c.1142C>T (p.Thr381Met)
NM_000789.4(ACE):c.1185A>G (p.Ile395Met)
NM_000789.4(ACE):c.1186C>T (p.Gln396Ter)
NM_000789.4(ACE):c.1228C>T (p.Arg410Trp)
NM_000789.4(ACE):c.1242C>T (p.Pro414=)
NM_000789.4(ACE):c.1243G>A (p.Gly415Ser)
NM_000789.4(ACE):c.1267G>A (p.Val423Met)
NM_000789.4(ACE):c.1275G>A (p.Ala425=)
NM_000789.4(ACE):c.1292C>T (p.Pro431Leu) rs2049729701
NM_000789.4(ACE):c.1292del (p.Pro431fs) rs2147533687
NM_000789.4(ACE):c.1299T>C (p.His433=)
NM_000789.4(ACE):c.1314C>A (p.Gly438=)
NM_000789.4(ACE):c.1321G>A (p.Asp441Asn)
NM_000789.4(ACE):c.132C>T (p.Ala44=)
NM_000789.4(ACE):c.1340C>T (p.Thr447Met)
NM_000789.4(ACE):c.1341G>A (p.Thr447=)
NM_000789.4(ACE):c.1341G>C (p.Thr447=) rs34241302
NM_000789.4(ACE):c.1407C>T (p.Tyr469=)
NM_000789.4(ACE):c.1445G>A (p.Arg482His)
NM_000789.4(ACE):c.1453C>G (p.Pro485Ala)
NM_000789.4(ACE):c.1473_1475delinsA (p.Asp491fs) rs1599142041
NM_000789.4(ACE):c.1487+14T>C
NM_000789.4(ACE):c.1487+9_1487+11delinsGAA
NM_000789.4(ACE):c.1491C>A (p.Thr497=) rs1303300504
NM_000789.4(ACE):c.1491C>T (p.Thr497=)
NM_000789.4(ACE):c.1499_1500del (p.Gln500fs)
NM_000789.4(ACE):c.14C>T (p.Ser5Leu)
NM_000789.4(ACE):c.1503G>C (p.Gly501=)
NM_000789.4(ACE):c.1580A>G (p.Tyr527Cys)
NM_000789.4(ACE):c.1586+11_1586+14dup
NM_000789.4(ACE):c.1587-13C>G
NM_000789.4(ACE):c.1589A>G (p.Tyr530Cys)
NM_000789.4(ACE):c.15G>C (p.Ser5=)
NM_000789.4(ACE):c.1611GTTCCA[3] (p.537QF[3]) rs771053807
NM_000789.4(ACE):c.1629C>T (p.Ala543=)
NM_000789.4(ACE):c.1644A>C (p.Ala548=)
NM_000789.4(ACE):c.1646del (p.Gly549fs) rs2147537027
NM_000789.4(ACE):c.1669T>C (p.Cys557Arg)
NM_000789.4(ACE):c.1692G>A (p.Lys564=)
NM_000789.4(ACE):c.1709+17C>T
NM_000789.4(ACE):c.1709+18G>A
NM_000789.4(ACE):c.1727G>C (p.Gly576Ala)
NM_000789.4(ACE):c.1734C>T (p.Ser578=)
NM_000789.4(ACE):c.1743dup (p.Gln582fs) rs1568039403
NM_000789.4(ACE):c.1767C>A (p.Val589=)
NM_000789.4(ACE):c.1792C>T (p.Pro598Ser)
NM_000789.4(ACE):c.1794G>A (p.Pro598=)
NM_000789.4(ACE):c.1794G>T (p.Pro598=)
NM_000789.4(ACE):c.1802A>G (p.Lys601Arg)
NM_000789.4(ACE):c.181C>T (p.Leu61=)
NM_000789.4(ACE):c.189G>A (p.Gln63=)
NM_000789.4(ACE):c.1911G>A (p.Pro637=)
NM_000789.4(ACE):c.1912G>A (p.Glu638Lys)
NM_000789.4(ACE):c.1922-14A>G
NM_000789.4(ACE):c.1922-309C>A rs532464035
NM_000789.4(ACE):c.1922-336dup rs1156450082
NM_000789.4(ACE):c.1922-3C>T
NM_000789.4(ACE):c.195G>C (p.Val65=)
NM_000789.4(ACE):c.2004C>T (p.Ala668=)
NM_000789.4(ACE):c.2005G>A (p.Glu669Lys)
NM_000789.4(ACE):c.2012A>G (p.Asn671Ser)
NM_000789.4(ACE):c.2030A>G (p.Asn677Ser)
NM_000789.4(ACE):c.2045C>T (p.Thr682Ile)
NM_000789.4(ACE):c.2049C>A (p.Ser683Arg) rs148491967
NM_000789.4(ACE):c.2056C>T (p.Leu686=)
NM_000789.4(ACE):c.2058+221C>T rs4323
NM_000789.4(ACE):c.2058+7G>A
NM_000789.4(ACE):c.2059-19C>T
NM_000789.4(ACE):c.2059-257C>A rs4330
NM_000789.4(ACE):c.2070C>T (p.Asn690=)
NM_000789.4(ACE):c.2076A>G (p.Gln692=)
NM_000789.4(ACE):c.2100C>T (p.Tyr700=)
NM_000789.4(ACE):c.213C>A (p.His71Gln)
NM_000789.4(ACE):c.2149_2150del (p.Ile717fs) rs1219522144
NM_000789.4(ACE):c.2156G>A (p.Arg719Gln)
NM_000789.4(ACE):c.2173C>T (p.Gln725Ter) rs139263584
NM_000789.4(ACE):c.2186G>A (p.Arg729Gln)
NM_000789.4(ACE):c.2192_2193inv (p.Ala731Val)
NM_000789.4(ACE):c.2196G>C (p.Leu732=)
NM_000789.4(ACE):c.2217+14A>G
NM_000789.4(ACE):c.2256C>T (p.Ser752=) rs780873477
NM_000789.4(ACE):c.2288G>A (p.Cys763Tyr)
NM_000789.4(ACE):c.2305+16C>T
NM_000789.4(ACE):c.2305+9T>A
NM_000789.4(ACE):c.2306-267del rs561946751
NM_000789.4(ACE):c.2306-268_2306-267del rs561946751
NM_000789.4(ACE):c.2312C>T (p.Thr771Met)
NM_000789.4(ACE):c.2332C>T (p.Arg778Trp)
NM_000789.4(ACE):c.2408C>T (p.Pro803Leu)
NM_000789.4(ACE):c.2409G>A (p.Pro803=)
NM_000789.4(ACE):c.2415C>T (p.Tyr805=) rs761458810
NM_000789.4(ACE):c.2441G>A (p.Arg814Gln)
NM_000789.4(ACE):c.2449+9C>T
NM_000789.4(ACE):c.2472G>A (p.Ser824=)
NM_000789.4(ACE):c.2492C>A (p.Thr831Lys)
NM_000789.4(ACE):c.250-18C>T
NM_000789.4(ACE):c.250-19C>T
NM_000789.4(ACE):c.2518C>A (p.Arg840=) rs3730036
NM_000789.4(ACE):c.2525T>C (p.Phe842Ser)
NM_000789.4(ACE):c.2544C>T (p.Leu848=) rs377651738
NM_000789.4(ACE):c.2559T>C (p.His853=)
NM_000789.4(ACE):c.2566G>A (p.Val856Met)
NM_000789.4(ACE):c.2593G>A (p.Gly865Arg)
NM_000789.4(ACE):c.2596G>T (p.Ala866Ser)
NM_000789.4(ACE):c.2598C>G (p.Ala866=)
NM_000789.4(ACE):c.2641+15C>T
NM_000789.4(ACE):c.2641+18G>T
NM_000789.4(ACE):c.2641+231G>A rs4344
NM_000789.4(ACE):c.2642-17C>G
NM_000789.4(ACE):c.2642-8G>A
NM_000789.4(ACE):c.2643G>C (p.Gly881=)
NM_000789.4(ACE):c.2673_2674dup (p.Tyr892fs) rs2030333357
NM_000789.4(ACE):c.2675A>G (p.Tyr892Cys)
NM_000789.4(ACE):c.2694C>T (p.Phe898=)
NM_000789.4(ACE):c.2716A>G (p.Thr906Ala)
NM_000789.4(ACE):c.2739+19G>T
NM_000789.4(ACE):c.2739+4C>T
NM_000789.4(ACE):c.2740-14C>A
NM_000789.4(ACE):c.2740-16C>T
NM_000789.4(ACE):c.2740-8G>A
NM_000789.4(ACE):c.2764A>G (p.Lys922Glu)
NM_000789.4(ACE):c.2805C>T (p.Pro935=)
NM_000789.4(ACE):c.2826C>G (p.Asn942Lys)
NM_000789.4(ACE):c.2853C>T (p.Asp951=)
NM_000789.4(ACE):c.2874C>T (p.His958=)
NM_000789.4(ACE):c.2877C>G (p.Ala959=)
NM_000789.4(ACE):c.2880G>A (p.Ser960=)
NM_000789.4(ACE):c.2912+10G>C
NM_000789.4(ACE):c.2913-17C>A
NM_000789.4(ACE):c.2913-8A>C rs372489161
NM_000789.4(ACE):c.2931C>T (p.Thr977=)
NM_000789.4(ACE):c.2952G>A (p.Val984=) rs3730044
NM_000789.4(ACE):c.2952G>C (p.Val984=) rs3730044
NM_000789.4(ACE):c.2961C>T (p.His987=)
NM_000789.4(ACE):c.2987T>C (p.Phe996Ser)
NM_000789.4(ACE):c.2T>C (p.Met1Thr) rs1005792910
NM_000789.4(ACE):c.306G>A (p.Lys102=)
NM_000789.4(ACE):c.3070C>T (p.Leu1024Phe)
NM_000789.4(ACE):c.30G>C (p.Pro10=)
NM_000789.4(ACE):c.3136G>A (p.Glu1046Lys)
NM_000789.4(ACE):c.3137-13C>T
NM_000789.4(ACE):c.3180C>T (p.Ile1060=)
NM_000789.4(ACE):c.3204C>T (p.Leu1068=)
NM_000789.4(ACE):c.3205G>A (p.Val1069Ile)
NM_000789.4(ACE):c.3221G>A (p.Trp1074Ter)
NM_000789.4(ACE):c.325T>C (p.Trp109Arg) rs2147525555
NM_000789.4(ACE):c.3272G>A (p.Trp1091Ter)
NM_000789.4(ACE):c.3281+19G>A
NM_000789.4(ACE):c.3281+20G>A
NM_000789.4(ACE):c.3282-17A>G
NM_000789.4(ACE):c.3306C>T (p.Pro1102=)
NM_000789.4(ACE):c.3324A>G (p.Gln1108=)
NM_000789.4(ACE):c.3335A>G (p.Asp1112Gly) rs1568047328
NM_000789.4(ACE):c.3354C>T (p.His1118=)
NM_000789.4(ACE):c.3366C>T (p.Ser1122=)
NM_000789.4(ACE):c.3372T>C (p.Pro1124=)
NM_000789.4(ACE):c.3380+17G>C
NM_000789.4(ACE):c.3381-12G>A
NM_000789.4(ACE):c.3381-17G>T
NM_000789.4(ACE):c.3490G>A (p.Gly1164Arg)
NM_000789.4(ACE):c.3497G>A (p.Arg1166His)
NM_000789.4(ACE):c.3507C>T (p.Thr1169=)
NM_000789.4(ACE):c.3534G>A (p.Pro1178=)
NM_000789.4(ACE):c.3538_3539delinsGT (p.Pro1180Val) rs1568048955
NM_000789.4(ACE):c.3540G>A (p.Pro1180=)
NM_000789.4(ACE):c.3550C>T (p.Gln1184Ter)
NM_000789.4(ACE):c.3580G>A (p.Ala1194Thr)
NM_000789.4(ACE):c.3584C>T (p.Ser1195Leu)
NM_000789.4(ACE):c.3585G>A (p.Ser1195=)
NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del) rs900084108
NM_000789.4(ACE):c.3609G>A (p.Pro1203=)
NM_000789.4(ACE):c.3629C>G (p.Thr1210Arg)
NM_000789.4(ACE):c.3635A>C (p.Asn1212Thr)
NM_000789.4(ACE):c.3636C>T (p.Asn1212=)
NM_000789.4(ACE):c.3657G>A (p.Leu1219=)
NM_000789.4(ACE):c.3684G>A (p.Pro1228=)
NM_000789.4(ACE):c.3689C>T (p.Ser1230Phe) rs756742824
NM_000789.4(ACE):c.3695G>A (p.Arg1232His) rs372282664
NM_000789.4(ACE):c.3695G>T (p.Arg1232Leu)
NM_000789.4(ACE):c.3696C>A (p.Arg1232=)
NM_000789.4(ACE):c.3708C>T (p.Pro1236=)
NM_000789.4(ACE):c.3727G>A (p.Val1243Ile)
NM_000789.4(ACE):c.3766C>T (p.Arg1256Cys)
NM_000789.4(ACE):c.3767G>A (p.Arg1256His)
NM_000789.4(ACE):c.3850C>T (p.Arg1284Cys)
NM_000789.4(ACE):c.3856C>A (p.Arg1286Ser) rs4364
NM_000789.4(ACE):c.3879C>T (p.His1293=)
NM_000789.4(ACE):c.3884C>A (p.Pro1295His)
NM_000789.4(ACE):c.3892G>T (p.Gly1298Cys)
NM_000789.4(ACE):c.407A>C (p.Lys136Thr)
NM_000789.4(ACE):c.417+4G>A
NM_000789.4(ACE):c.418-10G>T
NM_000789.4(ACE):c.41_67del (p.Leu14_Leu22del)
NM_000789.4(ACE):c.444_445insTTAGC (p.Arg149fs) rs778759606
NM_000789.4(ACE):c.44CGCTGC[1] (p.15PL[1]) rs532691783
NM_000789.4(ACE):c.44CGCTGC[3] (p.15PL[3]) rs532691783
NM_000789.4(ACE):c.456C>G (p.Ser152=)
NM_000789.4(ACE):c.474C>T (p.Leu158=)
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del) rs983649759
NM_000789.4(ACE):c.489C>T (p.Ala163=)
NM_000789.4(ACE):c.501C>T (p.Ser167=)
NM_000789.4(ACE):c.511+23_511+36del rs759020113
NM_000789.4(ACE):c.512-15C>T
NM_000789.4(ACE):c.512-19C>G
NM_000789.4(ACE):c.537G>A (p.Ser179=)
NM_000789.4(ACE):c.537G>T (p.Ser179=)
NM_000789.4(ACE):c.539G>A (p.Arg180Gln)
NM_000789.4(ACE):c.546C>T (p.Tyr182=)
NM_000789.4(ACE):c.583G>A (p.Ala195Thr)
NM_000789.4(ACE):c.58_63del (p.Leu21_Leu22del) rs2049629009
NM_000789.4(ACE):c.599T>C (p.Leu200Pro)
NM_000789.4(ACE):c.5G>A (p.Gly2Glu)
NM_000789.4(ACE):c.602A>C (p.Lys201Thr)
NM_000789.4(ACE):c.605C>T (p.Pro202Leu)
NM_000789.4(ACE):c.636T>C (p.Asn212=)
NM_000789.4(ACE):c.640G>A (p.Ala214Thr)
NM_000789.4(ACE):c.642C>T (p.Ala214=)
NM_000789.4(ACE):c.654C>T (p.Asp218=)
NM_000789.4(ACE):c.655+9G>T
NM_000789.4(ACE):c.656-12C>T
NM_000789.4(ACE):c.656-13C>T
NM_000789.4(ACE):c.666C>T (p.Asp222=)
NM_000789.4(ACE):c.67C>G (p.Pro23Ala)
NM_000789.4(ACE):c.729C>A (p.Leu243=)
NM_000789.4(ACE):c.753C>T (p.Tyr251=)
NM_000789.4(ACE):c.773_774delinsAA (p.Val258Glu)
NM_000789.4(ACE):c.776G>A (p.Arg259His)
NM_000789.4(ACE):c.78C>T (p.Pro26=)
NM_000789.4(ACE):c.793C>T (p.Arg265Ter)
NM_000789.4(ACE):c.798C>G (p.Tyr266Ter) rs121912704
NM_000789.4(ACE):c.80C>T (p.Ala27Val)
NM_000789.4(ACE):c.819C>T (p.Leu273=)
NM_000789.4(ACE):c.82C>T (p.Leu28=)
NM_000789.4(ACE):c.833dup (p.Ala279fs)
NM_000789.4(ACE):c.847+9dup rs781208335
NM_000789.4(ACE):c.870G>A (p.Trp290Ter) rs2147530850
NM_000789.4(ACE):c.882C>T (p.Tyr294=)
NM_000789.4(ACE):c.914A>G (p.Asn305Ser)
NM_000789.4(ACE):c.945+2T>G
NM_000789.4(ACE):c.946-16C>G
NM_000789.4(ACE):c.955G>T (p.Ala319Ser) rs34126458
NM_000789.4(ACE):c.971G>A (p.Arg324Gln)
NM_000789.4(ACE):c.991A>G (p.Thr331Ala)
NM_000789.4(ACE):c.993C>T (p.Thr331=)

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