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
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NM_024105.4(ALG12):c.595T>C (p.Leu199=)
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NM_024105.4(ALG12):c.610G>A (p.Val204Ile)
|
rs779494077
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NM_024105.4(ALG12):c.612T>G (p.Val204=)
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NM_024105.4(ALG12):c.616G>A (p.Val206Ile)
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rs534212642
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NM_024105.4(ALG12):c.619G>T (p.Val207Phe)
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NM_024105.4(ALG12):c.626C>G (p.Ala209Gly)
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NM_024105.4(ALG12):c.630T>G (p.Leu210=)
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NM_024105.4(ALG12):c.633C>T (p.Arg211=)
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NM_024105.4(ALG12):c.636C>T (p.His212=)
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NM_024105.4(ALG12):c.642C>G (p.Val214=)
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NM_024105.4(ALG12):c.656T>G (p.Leu219Arg)
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NM_024105.4(ALG12):c.657C>G (p.Leu219=)
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rs2146607505
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NM_024105.4(ALG12):c.664+11C>T
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NM_024105.4(ALG12):c.664+14T>C
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NM_024105.4(ALG12):c.664+16_664+17del
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NM_024105.4(ALG12):c.664+1G>A
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NM_024105.4(ALG12):c.665-11T>C
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NM_024105.4(ALG12):c.665-17_665-16del
|
rs1473790663
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NM_024105.4(ALG12):c.665-20A>T
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NM_024105.4(ALG12):c.66T>C (p.Thr22=)
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rs1449442041
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NM_024105.4(ALG12):c.688dup (p.Tyr230fs)
|
rs1569175744
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NM_024105.4(ALG12):c.698_699del (p.Arg233fs)
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NM_024105.4(ALG12):c.718G>C (p.Gly240Arg)
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rs2146606588
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NM_024105.4(ALG12):c.719G>A (p.Gly240Glu)
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NM_024105.4(ALG12):c.729T>C (p.Leu243=)
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NM_024105.4(ALG12):c.72C>T (p.His24=)
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NM_024105.4(ALG12):c.731G>A (p.Trp244Ter)
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NM_024105.4(ALG12):c.736A>C (p.Asn246His)
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NM_024105.4(ALG12):c.740C>T (p.Thr247Ile)
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rs1183282596
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NM_024105.4(ALG12):c.746T>C (p.Leu249Pro)
|
rs2146606524
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NM_024105.4(ALG12):c.757T>C (p.Ser253Pro)
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NM_024105.4(ALG12):c.762C>A (p.Asn254Lys)
|
rs143204935
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NM_024105.4(ALG12):c.764G>T (p.Trp255Leu)
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NM_024105.4(ALG12):c.768+14T>C
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NM_024105.4(ALG12):c.768+14T>G
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NM_024105.4(ALG12):c.768+1dup
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NM_024105.4(ALG12):c.768+4_768+5insA
|
rs2146606463
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NM_024105.4(ALG12):c.769-10C>G
|
rs910838469
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NM_024105.4(ALG12):c.769-11C>G
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NM_024105.4(ALG12):c.769-12C>T
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NM_024105.4(ALG12):c.769-4G>A
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NM_024105.4(ALG12):c.769-5C>T
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NM_024105.4(ALG12):c.774C>G (p.Ser258=)
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|
NM_024105.4(ALG12):c.789C>A (p.Tyr263Ter)
|
rs2147585338
|
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NM_024105.4(ALG12):c.789C>T (p.Tyr263=)
|
rs2147585338
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NM_024105.4(ALG12):c.800C>T (p.Ala267Val)
|
rs1287436259
|
|
NM_024105.4(ALG12):c.802C>G (p.Leu268Val)
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|
NM_024105.4(ALG12):c.802C>T (p.Leu268=)
|
rs1490287472
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NM_024105.4(ALG12):c.804G>A (p.Leu268=)
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|
|
NM_024105.4(ALG12):c.804G>C (p.Leu268=)
|
rs771276914
|
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NM_024105.4(ALG12):c.808C>T (p.Arg270Cys)
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NM_024105.4(ALG12):c.810C>T (p.Arg270=)
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|
NM_024105.4(ALG12):c.81C>T (p.Ile27=)
|
rs2146614807
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NM_024105.4(ALG12):c.821G>A (p.Cys274Tyr)
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NM_024105.4(ALG12):c.831C>G (p.Leu277=)
|
rs753341759
|
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NM_024105.4(ALG12):c.838C>T (p.Pro280Ser)
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|
|
NM_024105.4(ALG12):c.839C>T (p.Pro280Leu)
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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)
|
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|
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)
|
|
|