ClinVar Miner

List of variants studied for ALG12-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 473
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HGVS dbSNP gnomAD frequency
NM_024105.4(ALG12):c.885A>G (p.Ala295=) rs8135963 0.36465
NM_024105.4(ALG12):c.*51A>G rs1321 0.25423
NM_024105.4(ALG12):c.664+9G>C rs9616368 0.23841
NM_024105.4(ALG12):c.664+12A>G rs9616204 0.23839
NM_024105.4(ALG12):c.-141T>C rs9616378 0.22442
NM_024105.4(ALG12):c.1177A>G (p.Ile393Val) rs3922872 0.09076
NM_024105.4(ALG12):c.163-19C>A rs11705497 0.07946
NM_024105.4(ALG12):c.99G>A (p.Val33=) rs76707654 0.04368
NM_024105.4(ALG12):c.*240G>A rs76848348 0.03225
NM_024105.4(ALG12):c.1029G>A (p.Ala343=) rs62233155 0.02811
NM_024105.4(ALG12):c.*280G>A rs116765369 0.02266
NM_024105.4(ALG12):c.469+13C>T rs78916708 0.01349
NM_024105.4(ALG12):c.939C>T (p.Ile313=) rs114335781 0.00874
NM_024105.4(ALG12):c.768+17G>A rs145358718 0.00827
NM_024105.4(ALG12):c.645G>A (p.Pro215=) rs12167668 0.00577
NM_024105.4(ALG12):c.698G>A (p.Arg233Gln) rs114264124 0.00516
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_024105.4(ALG12):c.1163-19G>A rs200745798 0.00396
NM_024105.4(ALG12):c.48G>C (p.Leu16=) rs143508665 0.00377
NM_024105.4(ALG12):c.1155C>T (p.Pro385=) rs113652023 0.00282
NM_024105.4(ALG12):c.501C>T (p.His167=) rs149845730 0.00212
NM_024105.4(ALG12):c.*1G>C rs138804791 0.00205
NM_024105.4(ALG12):c.359G>A (p.Arg120Gln) rs117687848 0.00169
NM_024105.4(ALG12):c.*363G>A rs568473076 0.00144
NM_024105.4(ALG12):c.*393C>T rs550904403 0.00114
NM_024105.4(ALG12):c.1299C>T (p.Leu433=) rs150614794 0.00083
NM_024105.4(ALG12):c.768+16C>T rs558809803 0.00083
NM_024105.4(ALG12):c.319G>A (p.Val107Met) rs147784926 0.00066
NM_024105.4(ALG12):c.652A>G (p.Ile218Val) rs146322225 0.00061
NM_024105.4(ALG12):c.665G>C (p.Gly222Ala) rs149209714 0.00061
NM_024105.4(ALG12):c.469+5G>A rs375025860 0.00058
NM_024105.4(ALG12):c.563G>A (p.Cys188Tyr) rs555600636 0.00055
NM_024105.4(ALG12):c.867C>T (p.His289=) rs147801200 0.00045
NM_024105.4(ALG12):c.1362C>T (p.Val454=) rs12163163 0.00041
NM_024105.4(ALG12):c.242C>T (p.Ala81Val) rs142586266 0.00041
NM_024105.4(ALG12):c.1345C>T (p.Arg449Trp) rs141814567 0.00038
NM_024105.4(ALG12):c.465T>C (p.Pro155=) rs201564211 0.00037
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_024105.4(ALG12):c.1425G>C (p.Gln475His) rs147000290 0.00036
NM_024105.4(ALG12):c.*475G>A rs186563620 0.00030
NM_024105.4(ALG12):c.1068C>T (p.Ala356=) rs371321442 0.00024
NM_024105.4(ALG12):c.470-11C>T rs375328311 0.00024
NM_024105.4(ALG12):c.966C>T (p.Ile322=) rs573103699 0.00021
NM_024105.4(ALG12):c.1152C>G (p.Pro384=) rs375721419 0.00019
NM_024105.4(ALG12):c.1239G>C (p.Arg413Ser) rs142027212 0.00019
NM_024105.4(ALG12):c.1082C>T (p.Thr361Met) rs748537273 0.00017
NM_024105.4(ALG12):c.1057G>A (p.Val353Met) rs374327138 0.00016
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932 0.00016
NM_024105.4(ALG12):c.55G>A (p.Ala19Thr) rs138266806 0.00015
NM_024105.4(ALG12):c.*33C>T rs531771418 0.00013
NM_024105.4(ALG12):c.240C>T (p.Pro80=) rs773878720 0.00013
NM_024105.4(ALG12):c.1428A>G (p.Thr476=) rs191342997 0.00012
NM_024105.4(ALG12):c.189C>T (p.Val63=) rs190345740 0.00011
NM_024105.4(ALG12):c.665-15A>G rs373506247 0.00011
NM_024105.4(ALG12):c.1158G>C (p.Gln386His) rs372390738 0.00010
NM_024105.4(ALG12):c.132C>T (p.Asp44=) rs140846449 0.00010
NM_024105.4(ALG12):c.969G>A (p.Thr323=) rs751353681 0.00010
NM_024105.4(ALG12):c.1216C>G (p.Leu406Val) rs772459313 0.00009
NM_024105.4(ALG12):c.1360G>A (p.Val454Ile) rs777096831 0.00009
NM_024105.4(ALG12):c.243G>A (p.Ala81=) rs564172046 0.00009
NM_024105.4(ALG12):c.714G>A (p.Pro238=) rs760973218 0.00009
NM_024105.4(ALG12):c.768+10A>C rs779065174 0.00008
NM_024105.4(ALG12):c.777G>A (p.Pro259=) rs138060012 0.00008
NM_024105.4(ALG12):c.1192G>A (p.Ala398Thr) rs773892105 0.00007
NM_024105.4(ALG12):c.295+1G>A rs376314741 0.00007
NM_024105.4(ALG12):c.385A>G (p.Met129Val) rs200068410 0.00007
NM_024105.4(ALG12):c.1238+20C>T rs767126536 0.00006
NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly) rs201717237 0.00006
NM_024105.4(ALG12):c.1346G>A (p.Arg449Gln) rs148062469 0.00006
NM_024105.4(ALG12):c.1457G>A (p.Arg486Gln) rs938305311 0.00006
NM_024105.4(ALG12):c.241G>A (p.Ala81Thr) rs770434145 0.00006
NM_024105.4(ALG12):c.403G>A (p.Ala135Thr) rs761571791 0.00006
NM_024105.4(ALG12):c.469+14G>A rs76905919 0.00006
NM_024105.4(ALG12):c.58G>A (p.Val20Ile) rs140468943 0.00006
NM_024105.4(ALG12):c.639C>T (p.Ala213=) rs140835842 0.00006
NM_024105.4(ALG12):c.822C>T (p.Cys274=) rs757984807 0.00006
NM_024105.4(ALG12):c.-76T>C rs546115000 0.00005
NM_024105.4(ALG12):c.1331A>G (p.Tyr444Cys) rs374858734 0.00005
NM_024105.4(ALG12):c.358C>T (p.Arg120Trp) rs772004305 0.00005
NM_024105.4(ALG12):c.402G>A (p.Thr134=) rs370059291 0.00005
NM_024105.4(ALG12):c.436C>T (p.Arg146Trp) rs567368110 0.00005
NM_024105.4(ALG12):c.469+4C>T rs555319649 0.00005
NM_024105.4(ALG12):c.534C>T (p.Phe178=) rs139916198 0.00005
NM_024105.4(ALG12):c.617T>A (p.Val206Glu) rs150664343 0.00005
NM_024105.4(ALG12):c.*209C>T rs757403591 0.00004
NM_024105.4(ALG12):c.-74C>T rs182520339 0.00004
NM_024105.4(ALG12):c.1028C>T (p.Ala343Val) rs374812633 0.00004
NM_024105.4(ALG12):c.1211G>A (p.Arg404Gln) rs553349150 0.00004
NM_024105.4(ALG12):c.163-5C>T rs368302798 0.00004
NM_024105.4(ALG12):c.165C>T (p.Tyr55=) rs563259198 0.00004
NM_024105.4(ALG12):c.479C>T (p.Ala160Val) rs762826904 0.00004
NM_024105.4(ALG12):c.809G>A (p.Arg270His) rs781707642 0.00004
NM_024105.4(ALG12):c.811G>A (p.Gly271Ser) rs751915470 0.00004
NM_024105.4(ALG12):c.910C>T (p.Leu304Phe) rs375631589 0.00004
NM_024105.4(ALG12):c.993-19G>A rs185216992 0.00004
NM_024105.4(ALG12):c.1144C>T (p.Leu382=) rs745820643 0.00003
NM_024105.4(ALG12):c.1163-20G>C rs371655793 0.00003
NM_024105.4(ALG12):c.1164C>T (p.Asp388=) rs557130467 0.00003
NM_024105.4(ALG12):c.1272A>G (p.Thr424=) rs368420135 0.00003
NM_024105.4(ALG12):c.1427C>G (p.Thr476Arg) rs142815771 0.00003
NM_024105.4(ALG12):c.1456C>T (p.Arg486Trp) rs745477655 0.00003
NM_024105.4(ALG12):c.1461G>A (p.Pro487=) rs541941913 0.00003
NM_024105.4(ALG12):c.183C>T (p.Pro61=) rs749156618 0.00003
NM_024105.4(ALG12):c.29G>A (p.Arg10Gln) rs778413165 0.00003
NM_024105.4(ALG12):c.401C>T (p.Thr134Met) rs201405631 0.00003
NM_024105.4(ALG12):c.469+17C>T rs752634210 0.00003
NM_024105.4(ALG12):c.470-15C>T rs367584975 0.00003
NM_024105.4(ALG12):c.496C>T (p.Arg166Trp) rs375139092 0.00003
NM_024105.4(ALG12):c.502G>A (p.Glu168Lys) rs754565538 0.00003
NM_024105.4(ALG12):c.605G>A (p.Arg202Gln) rs746493927 0.00003
NM_024105.4(ALG12):c.671C>T (p.Thr224Met) rs755892540 0.00003
NM_024105.4(ALG12):c.837C>T (p.Ile279=) rs200095556 0.00003
NM_024105.4(ALG12):c.842T>G (p.Leu281Arg) rs767435558 0.00003
NM_024105.4(ALG12):c.869C>T (p.Ala290Val) rs201508940 0.00003
NM_024105.4(ALG12):c.889G>A (p.Gly297Ser) rs199937362 0.00003
NM_024105.4(ALG12):c.912C>T (p.Leu304=) rs1226459157 0.00003
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys) rs746215829 0.00003
NM_024105.4(ALG12):c.*276T>G rs760147302 0.00002
NM_024105.4(ALG12):c.1020G>A (p.Leu340=) rs774752704 0.00002
NM_024105.4(ALG12):c.1119C>T (p.Gly373=) rs765700872 0.00002
NM_024105.4(ALG12):c.1122C>T (p.Val374=) rs373583849 0.00002
NM_024105.4(ALG12):c.1133G>A (p.Arg378Lys) rs148798409 0.00002
NM_024105.4(ALG12):c.1183G>A (p.Val395Met) rs759024738 0.00002
NM_024105.4(ALG12):c.1231G>A (p.Ala411Thr) rs755033821 0.00002
NM_024105.4(ALG12):c.1239-16A>G rs915149632 0.00002
NM_024105.4(ALG12):c.1242C>T (p.Tyr414=) rs121907935 0.00002
NM_024105.4(ALG12):c.1363G>A (p.Val455Met) rs367671008 0.00002
NM_024105.4(ALG12):c.1413C>T (p.Asn471=) rs767232423 0.00002
NM_024105.4(ALG12):c.163-4G>A rs776043296 0.00002
NM_024105.4(ALG12):c.166G>A (p.Asp56Asn) rs201033281 0.00002
NM_024105.4(ALG12):c.184G>A (p.Gly62Arg) rs777719396 0.00002
NM_024105.4(ALG12):c.207C>T (p.Leu69=) rs765297992 0.00002
NM_024105.4(ALG12):c.434C>T (p.Thr145Met) rs748460466 0.00002
NM_024105.4(ALG12):c.435G>A (p.Thr145=) rs781076714 0.00002
NM_024105.4(ALG12):c.470-10T>C rs925389913 0.00002
NM_024105.4(ALG12):c.470-3C>T rs751546611 0.00002
NM_024105.4(ALG12):c.535G>A (p.Ala179Thr) rs952664215 0.00002
NM_024105.4(ALG12):c.57C>T (p.Ala19=) rs763942380 0.00002
NM_024105.4(ALG12):c.776C>T (p.Pro259Leu) rs149109851 0.00002
NM_024105.4(ALG12):c.*354G>A rs769523769 0.00001
NM_024105.4(ALG12):c.-79+3C>T rs886057616 0.00001
NM_024105.4(ALG12):c.1043T>G (p.Val348Gly) rs747813537 0.00001
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg) rs377095724 0.00001
NM_024105.4(ALG12):c.1120G>A (p.Val374Ile) rs761515996 0.00001
NM_024105.4(ALG12):c.117G>A (p.Leu39=) rs371814322 0.00001
NM_024105.4(ALG12):c.117del (p.Gln40fs) rs761221480 0.00001
NM_024105.4(ALG12):c.1182C>T (p.Asp394=) rs766969187 0.00001
NM_024105.4(ALG12):c.1224C>A (p.Val408=) rs146341718 0.00001
NM_024105.4(ALG12):c.1230C>T (p.Ser410=) rs779189579 0.00001
NM_024105.4(ALG12):c.1246_1247del (p.Lys416fs) rs746988876 0.00001
NM_024105.4(ALG12):c.1265C>T (p.Pro422Leu) rs759794733 0.00001
NM_024105.4(ALG12):c.1320C>G (p.Leu440=) rs2060528558 0.00001
NM_024105.4(ALG12):c.1339A>G (p.Thr447Ala) rs996114708 0.00001
NM_024105.4(ALG12):c.1359C>T (p.Ser453=) rs762256657 0.00001
NM_024105.4(ALG12):c.1389C>A (p.Asn463Lys) rs745510179 0.00001
NM_024105.4(ALG12):c.1390C>T (p.Leu464=) rs546031490 0.00001
NM_024105.4(ALG12):c.1411A>G (p.Asn471Asp) rs2060527901 0.00001
NM_024105.4(ALG12):c.1446G>C (p.Glu482Asp) rs1569172835 0.00001
NM_024105.4(ALG12):c.1449G>A (p.Arg483=) rs886057613 0.00001
NM_024105.4(ALG12):c.1460C>T (p.Pro487Leu) rs778688714 0.00001
NM_024105.4(ALG12):c.162+16T>G rs200452706 0.00001
NM_024105.4(ALG12):c.162+19C>T rs777484585 0.00001
NM_024105.4(ALG12):c.163-16G>C rs2060592313 0.00001
NM_024105.4(ALG12):c.223G>A (p.Ala75Thr) rs761301009 0.00001
NM_024105.4(ALG12):c.258G>A (p.Ser86=) rs141223868 0.00001
NM_024105.4(ALG12):c.296-15A>G rs749576773 0.00001
NM_024105.4(ALG12):c.296-19T>G rs757545642 0.00001
NM_024105.4(ALG12):c.301G>A (p.Gly101Arg) rs121907933 0.00001
NM_024105.4(ALG12):c.327T>G (p.Phe109Leu) rs886057614 0.00001
NM_024105.4(ALG12):c.333C>T (p.Leu111=) rs776257312 0.00001
NM_024105.4(ALG12):c.339G>A (p.Thr113=) rs768442865 0.00001
NM_024105.4(ALG12):c.366C>T (p.Phe122=) rs1015611771 0.00001
NM_024105.4(ALG12):c.367G>A (p.Gly123Arg) rs1555930118 0.00001
NM_024105.4(ALG12):c.377T>G (p.Val126Gly) rs556496917 0.00001
NM_024105.4(ALG12):c.390C>G (p.Phe130Leu) rs1010347575 0.00001
NM_024105.4(ALG12):c.415C>T (p.His139Tyr) rs200490756 0.00001
NM_024105.4(ALG12):c.449A>G (p.Asn150Ser) rs2060570009 0.00001
NM_024105.4(ALG12):c.469+18G>A rs767540166 0.00001
NM_024105.4(ALG12):c.476T>G (p.Leu159Arg) rs1410146441 0.00001
NM_024105.4(ALG12):c.508G>A (p.Ala170Thr) rs751491422 0.00001
NM_024105.4(ALG12):c.537C>T (p.Ala179=) rs1015991179 0.00001
NM_024105.4(ALG12):c.550A>G (p.Arg184Gly) rs1569176254 0.00001
NM_024105.4(ALG12):c.576C>T (p.Gly192=) rs763437728 0.00001
NM_024105.4(ALG12):c.622A>T (p.Arg208Ter) rs1464756874 0.00001
NM_024105.4(ALG12):c.644C>T (p.Pro215Leu) rs777173365 0.00001
NM_024105.4(ALG12):c.690T>C (p.Tyr230=) rs750524007 0.00001
NM_024105.4(ALG12):c.713C>T (p.Pro238Leu) rs1339045983 0.00001
NM_024105.4(ALG12):c.768+1G>A rs188399257 0.00001
NM_024105.4(ALG12):c.863C>T (p.Thr288Met) rs748227291 0.00001
NM_024105.4(ALG12):c.872C>T (p.Pro291Leu) rs778608834 0.00001
NM_024105.4(ALG12):c.873G>A (p.Pro291=) rs200080075 0.00001
NM_024105.4(ALG12):c.887T>C (p.Leu296Pro) rs774052738 0.00001
NM_024105.4(ALG12):c.909C>T (p.Ser303=) rs768723868 0.00001
NM_024105.4(ALG12):c.933C>T (p.Arg311=) rs779215527 0.00001
NM_024105.4(ALG12):c.944A>G (p.Tyr315Cys) rs372655623 0.00001
NM_024105.4(ALG12):c.951C>T (p.Phe317=) rs1480401201 0.00001
NM_024105.4(ALG12):c.959T>C (p.Leu320Pro) rs1200180536 0.00001
NM_024105.4(ALG12):c.968C>T (p.Thr323Met) rs754936149 0.00001
NM_024105.4(ALG12):c.983G>A (p.Cys328Tyr) rs1371150654 0.00001
NC_000022.10:g.(?_50167881)_(51066207_?)dup
NC_000022.10:g.(?_50297466)_(51066227_?)del
NC_000022.10:g.(?_50297486)_(50301612_?)del
NC_000022.10:g.(?_50297486)_(50307413_?)del
NC_000022.11:g.(?_49903818)_(49907964_?)del
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter) rs1313275799
NM_024105.4(ALG12):c.*131C>A rs2060526664
NM_024105.4(ALG12):c.*250C>T rs1329225644
NM_024105.4(ALG12):c.*484C>A rs77163946
NM_024105.4(ALG12):c.*486C>A rs1324817015
NM_024105.4(ALG12):c.-203G>A rs9616379
NM_024105.4(ALG12):c.-203G>C rs9616379
NM_024105.4(ALG12):c.-231T>G rs886057617
NM_024105.4(ALG12):c.-43C>T rs886057615
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024105.4(ALG12):c.1008A>C (p.Lys336Asn)
NM_024105.4(ALG12):c.1023C>T (p.Tyr341=)
NM_024105.4(ALG12):c.1024A>C (p.Lys342Gln)
NM_024105.4(ALG12):c.1030G>A (p.Gly344Arg) rs2147580583
NM_024105.4(ALG12):c.1032G>T (p.Gly344=) rs2147580579
NM_024105.4(ALG12):c.1033T>C (p.Ser345Pro) rs2147580574
NM_024105.4(ALG12):c.1041T>C (p.Leu347=) rs2147580566
NM_024105.4(ALG12):c.1047C>G (p.Ile349Met) rs182006999
NM_024105.4(ALG12):c.1047C>T (p.Ile349=) rs182006999
NM_024105.4(ALG12):c.1050A>G (p.Gly350=)
NM_024105.4(ALG12):c.1056C>T (p.Leu352=)
NM_024105.4(ALG12):c.1057G>C (p.Val353Leu)
NM_024105.4(ALG12):c.105G>A (p.Glu35=)
NM_024105.4(ALG12):c.1067C>T (p.Ala356Val) rs866503885
NM_024105.4(ALG12):c.1069G>A (p.Ala357Thr)
NM_024105.4(ALG12):c.1083G>A (p.Thr361=)
NM_024105.4(ALG12):c.1127T>C (p.Met376Thr)
NM_024105.4(ALG12):c.1129C>T (p.Gln377Ter)
NM_024105.4(ALG12):c.1135C>G (p.Leu379Val) rs887422058
NM_024105.4(ALG12):c.1141C>G (p.Gln381Glu)
NM_024105.4(ALG12):c.1149G>A (p.Val383=) rs778616092
NM_024105.4(ALG12):c.1150C>T (p.Pro384Ser)
NM_024105.4(ALG12):c.1152C>T (p.Pro384=)
NM_024105.4(ALG12):c.1156C>G (p.Gln386Glu)
NM_024105.4(ALG12):c.1156dup (p.Gln386fs) rs770711819
NM_024105.4(ALG12):c.1163-13C>T
NM_024105.4(ALG12):c.1163-20G>A
NM_024105.4(ALG12):c.1163-4C>T
NM_024105.4(ALG12):c.1163-9T>C rs2060530812
NM_024105.4(ALG12):c.1171C>T (p.Leu391=)
NM_024105.4(ALG12):c.1176C>T (p.His392=)
NM_024105.4(ALG12):c.1183G>C (p.Val395Leu)
NM_024105.4(ALG12):c.1191C>T (p.Ala397=)
NM_024105.4(ALG12):c.1221A>G (p.Gln407=)
NM_024105.4(ALG12):c.1238+12_1238+24del
NM_024105.4(ALG12):c.1238+14A>C
NM_024105.4(ALG12):c.1238+18C>G rs753109798
NM_024105.4(ALG12):c.1238+5G>T
NM_024105.4(ALG12):c.1238+7T>G rs756526998
NM_024105.4(ALG12):c.1239-17C>A rs2147579777
NM_024105.4(ALG12):c.1239-8T>C
NM_024105.4(ALG12):c.1242C>G (p.Tyr414Ter) rs121907935
NM_024105.4(ALG12):c.1258G>A (p.Val420Met)
NM_024105.4(ALG12):c.1263G>C (p.Gln421His)
NM_024105.4(ALG12):c.1264C>G (p.Pro422Ala)
NM_024105.4(ALG12):c.1266G>A (p.Pro422=) rs771112093
NM_024105.4(ALG12):c.1272A>C (p.Thr424=)
NM_024105.4(ALG12):c.1274G>T (p.Gly425Val)
NM_024105.4(ALG12):c.1280T>C (p.Leu427Pro)
NM_024105.4(ALG12):c.1284A>G (p.Ala428=)
NM_024105.4(ALG12):c.1287C>T (p.Tyr429=)
NM_024105.4(ALG12):c.1288A>C (p.Thr430Pro) rs878852984
NM_024105.4(ALG12):c.1302G>A (p.Met434Ile) rs781494329
NM_024105.4(ALG12):c.1307C>T (p.Ala436Val)
NM_024105.4(ALG12):c.1308G>T (p.Ala436=)
NM_024105.4(ALG12):c.1317G>A (p.Gly439=)
NM_024105.4(ALG12):c.1326C>G (p.Ala442=)
NM_024105.4(ALG12):c.1328T>C (p.Leu443Pro)
NM_024105.4(ALG12):c.1330T>C (p.Tyr444His)
NM_024105.4(ALG12):c.1338C>T (p.Asp446=)
NM_024105.4(ALG12):c.133C>A (p.Leu45Met) rs779888121
NM_024105.4(ALG12):c.133C>T (p.Leu45=)
NM_024105.4(ALG12):c.1347G>A (p.Arg449=)
NM_024105.4(ALG12):c.1353G>C (p.Leu451=)
NM_024105.4(ALG12):c.1369A>G (p.Thr457Ala)
NM_024105.4(ALG12):c.1386G>A (p.Leu462=)
NM_024105.4(ALG12):c.1404C>T (p.Pro468=)
NM_024105.4(ALG12):c.1414G>A (p.Val472Ile)
NM_024105.4(ALG12):c.1425G>A (p.Gln475=)
NM_024105.4(ALG12):c.1439T>C (p.Leu480Pro) rs775856400
NM_024105.4(ALG12):c.1451_1459del (p.Leu484_Arg486del)
NM_024105.4(ALG12):c.1452C>T (p.Leu484=) rs772352960
NM_024105.4(ALG12):c.1456del (p.Arg486fs) rs768823564
NM_024105.4(ALG12):c.1458G>A (p.Arg486=)
NM_024105.4(ALG12):c.1460C>G (p.Pro487Arg)
NM_024105.4(ALG12):c.1463C>T (p.Ser488Phe) rs2060527495
NM_024105.4(ALG12):c.1466G>A (p.Ter489=)
NM_024105.4(ALG12):c.1467A>C (p.Ter489Cys)
NM_024105.4(ALG12):c.160C>T (p.Gln54Ter)
NM_024105.4(ALG12):c.162+10C>A
NM_024105.4(ALG12):c.162+11C>T
NM_024105.4(ALG12):c.162+12del
NM_024105.4(ALG12):c.162+18T>C rs2060593030
NM_024105.4(ALG12):c.163-14C>T
NM_024105.4(ALG12):c.163-19C>T
NM_024105.4(ALG12):c.163-4G>T
NM_024105.4(ALG12):c.163-8C>T
NM_024105.4(ALG12):c.165C>A (p.Tyr55Ter) rs563259198
NM_024105.4(ALG12):c.168C>T (p.Asp56=)
NM_024105.4(ALG12):c.175G>C (p.Glu59Gln)
NM_024105.4(ALG12):c.180C>T (p.Phe60=) rs202026974
NM_024105.4(ALG12):c.189C>A (p.Val63=)
NM_024105.4(ALG12):c.192C>A (p.Val64=)
NM_024105.4(ALG12):c.193C>T (p.Pro65Ser)
NM_024105.4(ALG12):c.200C>T (p.Thr67Met) rs121907931
NM_024105.4(ALG12):c.201G>A (p.Thr67=)
NM_024105.4(ALG12):c.204C>G (p.Phe68Leu) rs2060591785
NM_024105.4(ALG12):c.208G>A (p.Gly70Arg) rs1208318216
NM_024105.4(ALG12):c.21_33dup (p.Leu12fs)
NM_024105.4(ALG12):c.222C>A (p.Ile74=)
NM_024105.4(ALG12):c.222C>T (p.Ile74=)
NM_024105.4(ALG12):c.231C>T (p.Phe77=)
NM_024105.4(ALG12):c.237C>A (p.Ser79Arg)
NM_024105.4(ALG12):c.249C>T (p.Tyr83=)
NM_024105.4(ALG12):c.270G>A (p.Met90Ile)
NM_024105.4(ALG12):c.273C>T (p.Ser91=)
NM_024105.4(ALG12):c.282C>T (p.Tyr94=)
NM_024105.4(ALG12):c.28C>T (p.Arg10Trp) rs148343441
NM_024105.4(ALG12):c.294A>G (p.Ile98Met)
NM_024105.4(ALG12):c.295+19A>G
NM_024105.4(ALG12):c.295+6G>A rs368352058
NM_024105.4(ALG12):c.295+6G>C
NM_024105.4(ALG12):c.296-18G>A
NM_024105.4(ALG12):c.306G>C (p.Val102=)
NM_024105.4(ALG12):c.30G>A (p.Arg10=) rs770005800
NM_024105.4(ALG12):c.30del (p.Leu12fs)
NM_024105.4(ALG12):c.318C>T (p.Gly106=)
NM_024105.4(ALG12):c.330A>G (p.Gly110=)
NM_024105.4(ALG12):c.333C>G (p.Leu111=)
NM_024105.4(ALG12):c.336G>A (p.Trp112Ter)
NM_024105.4(ALG12):c.338C>T (p.Thr113Met)
NM_024105.4(ALG12):c.360G>T (p.Arg120=)
NM_024105.4(ALG12):c.363C>T (p.His121=)
NM_024105.4(ALG12):c.374T>C (p.Met125Thr)
NM_024105.4(ALG12):c.376G>A (p.Val126Met)
NM_024105.4(ALG12):c.378G>A (p.Val126=)
NM_024105.4(ALG12):c.384C>T (p.Thr128=)
NM_024105.4(ALG12):c.387G>A (p.Met129Ile)
NM_024105.4(ALG12):c.390CTG[1] (p.Cys131del)
NM_024105.4(ALG12):c.395G>T (p.Trp132Leu)
NM_024105.4(ALG12):c.406A>G (p.Met136Val)
NM_024105.4(ALG12):c.40C>T (p.Leu14=)
NM_024105.4(ALG12):c.411G>A (p.Gln137=)
NM_024105.4(ALG12):c.417C>T (p.His139=)
NM_024105.4(ALG12):c.424T>G (p.Phe142Val) rs28942090
NM_024105.4(ALG12):c.424_428delinsCAGTTCCAC (p.Phe142fs)
NM_024105.4(ALG12):c.428A>C (p.Tyr143Ser)
NM_024105.4(ALG12):c.438G>A (p.Arg146=)
NM_024105.4(ALG12):c.439_469+19del
NM_024105.4(ALG12):c.441A>G (p.Thr147=)
NM_024105.4(ALG12):c.450T>C (p.Asn150=)
NM_024105.4(ALG12):c.45G>T (p.Gly15=)
NM_024105.4(ALG12):c.462G>A (p.Leu154=)
NM_024105.4(ALG12):c.462G>C (p.Leu154=)
NM_024105.4(ALG12):c.462G>T (p.Leu154=)
NM_024105.4(ALG12):c.468A>G (p.Val156=) rs1221631800
NM_024105.4(ALG12):c.469+15G>T
NM_024105.4(ALG12):c.469G>C (p.Val157Leu)
NM_024105.4(ALG12):c.470-12A>G rs191669043
NM_024105.4(ALG12):c.470-12A>T rs191669043
NM_024105.4(ALG12):c.470-14G>A
NM_024105.4(ALG12):c.470-5T>C
NM_024105.4(ALG12):c.470-6T>C
NM_024105.4(ALG12):c.470-8T>C rs1326072016
NM_024105.4(ALG12):c.471C>A (p.Val157=)
NM_024105.4(ALG12):c.472C>G (p.Leu158Val)
NM_024105.4(ALG12):c.473T>C (p.Leu158Pro) rs121907934
NM_024105.4(ALG12):c.474G>C (p.Leu158=)
NM_024105.4(ALG12):c.480C>T (p.Ala160=)
NM_024105.4(ALG12):c.483C>T (p.Leu161=)
NM_024105.4(ALG12):c.484G>A (p.Ala162Thr)
NM_024105.4(ALG12):c.486G>C (p.Ala162=)
NM_024105.4(ALG12):c.48G>A (p.Leu16=) rs143508665
NM_024105.4(ALG12):c.493C>T (p.Leu165=) rs778040010
NM_024105.4(ALG12):c.49C>T (p.Leu17=) rs2146614917
NM_024105.4(ALG12):c.502G>T (p.Glu168Ter) rs754565538
NM_024105.4(ALG12):c.522G>A (p.Trp174Ter) rs2146607840
NM_024105.4(ALG12):c.529G>A (p.Ala177Thr) rs1186957751
NM_024105.4(ALG12):c.533T>C (p.Phe178Ser)
NM_024105.4(ALG12):c.543C>T (p.Ile181=)
NM_024105.4(ALG12):c.551G>C (p.Arg184Thr) rs1358548843
NM_024105.4(ALG12):c.559C>A (p.Leu187Met)
NM_024105.4(ALG12):c.561G>A (p.Leu187=) rs1601823586
NM_024105.4(ALG12):c.571C>T (p.Leu191=)
NM_024105.4(ALG12):c.580C>T (p.Leu194=) rs2146607719
NM_024105.4(ALG12):c.595T>C (p.Leu199=)
NM_024105.4(ALG12):c.610G>A (p.Val204Ile) rs779494077
NM_024105.4(ALG12):c.612T>G (p.Val204=)
NM_024105.4(ALG12):c.616G>A (p.Val206Ile) rs534212642
NM_024105.4(ALG12):c.619G>T (p.Val207Phe)
NM_024105.4(ALG12):c.626C>G (p.Ala209Gly)
NM_024105.4(ALG12):c.630T>G (p.Leu210=)
NM_024105.4(ALG12):c.633C>T (p.Arg211=)
NM_024105.4(ALG12):c.636C>T (p.His212=)
NM_024105.4(ALG12):c.642C>G (p.Val214=)
NM_024105.4(ALG12):c.656T>G (p.Leu219Arg)
NM_024105.4(ALG12):c.657C>G (p.Leu219=) rs2146607505
NM_024105.4(ALG12):c.664+11C>T
NM_024105.4(ALG12):c.664+14T>C
NM_024105.4(ALG12):c.664+16_664+17del
NM_024105.4(ALG12):c.664+1G>A
NM_024105.4(ALG12):c.665-11T>C
NM_024105.4(ALG12):c.665-17_665-16del rs1473790663
NM_024105.4(ALG12):c.665-20A>T
NM_024105.4(ALG12):c.66T>C (p.Thr22=) rs1449442041
NM_024105.4(ALG12):c.688dup (p.Tyr230fs) rs1569175744
NM_024105.4(ALG12):c.698_699del (p.Arg233fs)
NM_024105.4(ALG12):c.718G>C (p.Gly240Arg) rs2146606588
NM_024105.4(ALG12):c.719G>A (p.Gly240Glu)
NM_024105.4(ALG12):c.729T>C (p.Leu243=)
NM_024105.4(ALG12):c.72C>T (p.His24=)
NM_024105.4(ALG12):c.731G>A (p.Trp244Ter)
NM_024105.4(ALG12):c.736A>C (p.Asn246His)
NM_024105.4(ALG12):c.740C>T (p.Thr247Ile) rs1183282596
NM_024105.4(ALG12):c.746T>C (p.Leu249Pro) rs2146606524
NM_024105.4(ALG12):c.757T>C (p.Ser253Pro)
NM_024105.4(ALG12):c.762C>A (p.Asn254Lys) rs143204935
NM_024105.4(ALG12):c.764G>T (p.Trp255Leu)
NM_024105.4(ALG12):c.768+14T>C
NM_024105.4(ALG12):c.768+14T>G
NM_024105.4(ALG12):c.768+1dup
NM_024105.4(ALG12):c.768+4_768+5insA rs2146606463
NM_024105.4(ALG12):c.769-10C>G rs910838469
NM_024105.4(ALG12):c.769-11C>G
NM_024105.4(ALG12):c.769-12C>T
NM_024105.4(ALG12):c.769-4G>A
NM_024105.4(ALG12):c.769-5C>T
NM_024105.4(ALG12):c.774C>G (p.Ser258=)
NM_024105.4(ALG12):c.789C>A (p.Tyr263Ter) rs2147585338
NM_024105.4(ALG12):c.789C>T (p.Tyr263=) rs2147585338
NM_024105.4(ALG12):c.800C>T (p.Ala267Val) rs1287436259
NM_024105.4(ALG12):c.802C>G (p.Leu268Val)
NM_024105.4(ALG12):c.802C>T (p.Leu268=) rs1490287472
NM_024105.4(ALG12):c.804G>A (p.Leu268=)
NM_024105.4(ALG12):c.804G>C (p.Leu268=) rs771276914
NM_024105.4(ALG12):c.808C>T (p.Arg270Cys)
NM_024105.4(ALG12):c.810C>T (p.Arg270=)
NM_024105.4(ALG12):c.81C>T (p.Ile27=) rs2146614807
NM_024105.4(ALG12):c.821G>A (p.Cys274Tyr)
NM_024105.4(ALG12):c.831C>G (p.Leu277=) rs753341759
NM_024105.4(ALG12):c.838C>T (p.Pro280Ser)
NM_024105.4(ALG12):c.839C>T (p.Pro280Leu)
NM_024105.4(ALG12):c.840C>T (p.Pro280=)
NM_024105.4(ALG12):c.841C>A (p.Leu281Met) rs775415771
NM_024105.4(ALG12):c.845G>A (p.Gly282Asp) rs2147585166
NM_024105.4(ALG12):c.846C>T (p.Gly282=)
NM_024105.4(ALG12):c.85C>T (p.Pro29Ser)
NM_024105.4(ALG12):c.864G>T (p.Thr288=)
NM_024105.4(ALG12):c.866A>G (p.His289Arg)
NM_024105.4(ALG12):c.868G>A (p.Ala290Thr) rs2060551878
NM_024105.4(ALG12):c.870G>A (p.Ala290=)
NM_024105.4(ALG12):c.873G>T (p.Pro291=) rs200080075
NM_024105.4(ALG12):c.875C>T (p.Thr292Met)
NM_024105.4(ALG12):c.898G>A (p.Ala300Thr)
NM_024105.4(ALG12):c.902T>C (p.Leu301Pro) rs1265937339
NM_024105.4(ALG12):c.903C>G (p.Leu301=)
NM_024105.4(ALG12):c.91A>G (p.Thr31Ala)
NM_024105.4(ALG12):c.925G>A (p.Glu309Lys) rs2147584963
NM_024105.4(ALG12):c.930_931del (p.Arg311fs) rs1569174722
NM_024105.4(ALG12):c.942C>T (p.Ile314=)
NM_024105.4(ALG12):c.948C>G (p.Ala316=)
NM_024105.4(ALG12):c.953C>T (p.Pro318Leu) rs2147584901
NM_024105.4(ALG12):c.965T>A (p.Ile322Asn)
NM_024105.4(ALG12):c.96A>G (p.Lys32=) rs2146614770
NM_024105.4(ALG12):c.981C>T (p.Gly327=)
NM_024105.4(ALG12):c.986C>T (p.Ser329Phe)
NM_024105.4(ALG12):c.992+10C>T
NM_024105.4(ALG12):c.993-8T>G
NM_024105.4(ALG12):c.995T>C (p.Leu332Pro)

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