NM_144670.6(A2ML1):c.4061+1G>A
|
rs202067416
|
0.00108
|
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs)
|
rs745711489
|
0.00051
|
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His)
|
rs200176373
|
0.00043
|
NM_144670.6(A2ML1):c.911T>C (p.Ile304Thr)
|
rs184575465
|
0.00042
|
NM_144670.6(A2ML1):c.2395T>G (p.Ser799Ala)
|
rs374408168
|
0.00026
|
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp)
|
rs201215628
|
0.00026
|
NM_144670.6(A2ML1):c.118T>G (p.Cys40Gly)
|
rs933811492
|
0.00021
|
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys)
|
rs367937691
|
0.00021
|
NM_144670.6(A2ML1):c.68A>G (p.Tyr23Cys)
|
rs750524549
|
0.00019
|
NM_144670.6(A2ML1):c.1433C>T (p.Pro478Leu)
|
rs201762847
|
0.00017
|
NM_144670.6(A2ML1):c.86C>A (p.Ala29Asp)
|
rs202006422
|
0.00017
|
NM_144670.6(A2ML1):c.1066C>T (p.Pro356Ser)
|
rs753186530
|
0.00016
|
NM_144670.6(A2ML1):c.3824C>T (p.Thr1275Ile)
|
rs368114048
|
0.00016
|
NM_144670.6(A2ML1):c.565C>T (p.Pro189Ser)
|
rs780009431
|
0.00015
|
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser)
|
rs369180298
|
0.00014
|
NM_144670.6(A2ML1):c.2294C>T (p.Ala765Val)
|
rs370203983
|
0.00014
|
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)
|
rs201562272
|
0.00013
|
NM_144670.6(A2ML1):c.1945A>G (p.Met649Val)
|
rs762406949
|
0.00012
|
NM_144670.6(A2ML1):c.2464G>A (p.Val822Ile)
|
rs201752325
|
0.00012
|
NM_144670.6(A2ML1):c.2773G>A (p.Ala925Thr)
|
rs201363860
|
0.00011
|
NM_144670.6(A2ML1):c.4090A>G (p.Met1364Val)
|
rs34274721
|
0.00011
|
NM_144670.6(A2ML1):c.2014T>C (p.Phe672Leu)
|
rs376707182
|
0.00010
|
NM_144670.6(A2ML1):c.2834A>T (p.Tyr945Phe)
|
rs375843284
|
0.00010
|
NM_144670.6(A2ML1):c.3713C>T (p.Thr1238Ile)
|
rs368827993
|
0.00010
|
NM_144670.6(A2ML1):c.2189G>A (p.Arg730His)
|
rs200346409
|
0.00009
|
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter)
|
rs199651558
|
0.00009
|
NM_144670.6(A2ML1):c.827C>G (p.Pro276Arg)
|
rs201979319
|
0.00009
|
NM_144670.6(A2ML1):c.1081-1G>T
|
rs754760292
|
0.00008
|
NM_144670.6(A2ML1):c.2420G>A (p.Arg807His)
|
rs375671514
|
0.00008
|
NM_144670.6(A2ML1):c.3104C>A (p.Thr1035Lys)
|
rs374091844
|
0.00008
|
NM_144670.6(A2ML1):c.3821G>A (p.Arg1274His)
|
rs199517408
|
0.00008
|
NM_144670.6(A2ML1):c.1327C>T (p.Arg443Ter)
|
rs550751327
|
0.00006
|
NM_144670.6(A2ML1):c.1595C>T (p.Pro532Leu)
|
rs373823890
|
0.00006
|
NM_144670.6(A2ML1):c.2231T>C (p.Ile744Thr)
|
rs376655036
|
0.00006
|
NM_144670.6(A2ML1):c.2678G>A (p.Arg893Gln)
|
rs780281065
|
0.00006
|
NM_144670.6(A2ML1):c.271G>A (p.Glu91Lys)
|
rs771663545
|
0.00006
|
NM_144670.6(A2ML1):c.2848+4A>C
|
rs375308468
|
0.00006
|
NM_144670.6(A2ML1):c.3819G>C (p.Gln1273His)
|
rs201147872
|
0.00006
|
NM_144670.6(A2ML1):c.3820C>T (p.Arg1274Cys)
|
rs370804670
|
0.00006
|
NM_144670.6(A2ML1):c.418C>T (p.Arg140Cys)
|
rs199919065
|
0.00006
|
NM_144670.6(A2ML1):c.692C>T (p.Thr231Met)
|
rs202211381
|
0.00006
|
NM_144670.6(A2ML1):c.973G>A (p.Val325Met)
|
rs749156731
|
0.00006
|
NM_144670.6(A2ML1):c.1970G>A (p.Arg657His)
|
rs372629661
|
0.00005
|
NM_144670.6(A2ML1):c.2125G>A (p.Gly709Ser)
|
rs765592950
|
0.00005
|
NM_144670.6(A2ML1):c.2611A>C (p.Ser871Arg)
|
rs375073450
|
0.00005
|
NM_144670.6(A2ML1):c.2848+1G>A
|
rs768624782
|
0.00005
|
NM_144670.6(A2ML1):c.2984C>T (p.Thr995Met)
|
rs755702632
|
0.00005
|
NM_144670.6(A2ML1):c.3002G>A (p.Arg1001Gln)
|
rs768554605
|
0.00005
|
NM_144670.6(A2ML1):c.3017T>C (p.Leu1006Pro)
|
rs748078710
|
0.00005
|
NM_144670.6(A2ML1):c.3235G>A (p.Val1079Met)
|
rs376593636
|
0.00005
|
NM_144670.6(A2ML1):c.374A>G (p.Gln125Arg)
|
rs776142486
|
0.00005
|
NM_144670.6(A2ML1):c.1081-2A>G
|
rs377270924
|
0.00004
|
NM_144670.6(A2ML1):c.1142A>G (p.Tyr381Cys)
|
rs867773372
|
0.00004
|
NM_144670.6(A2ML1):c.1378G>A (p.Gly460Ser)
|
rs758716034
|
0.00004
|
NM_144670.6(A2ML1):c.1476T>C (p.Tyr492=)
|
rs759551673
|
0.00004
|
NM_144670.6(A2ML1):c.1703C>G (p.Pro568Arg)
|
rs377555263
|
0.00004
|
NM_144670.6(A2ML1):c.1774C>T (p.Arg592Trp)
|
rs748309907
|
0.00004
|
NM_144670.6(A2ML1):c.2113A>G (p.Met705Val)
|
rs373817400
|
0.00004
|
NM_144670.6(A2ML1):c.2260G>A (p.Val754Ile)
|
rs769726608
|
0.00004
|
NM_144670.6(A2ML1):c.2416T>C (p.Phe806Leu)
|
rs886043044
|
0.00004
|
NM_144670.6(A2ML1):c.2486C>T (p.Ser829Leu)
|
rs758305694
|
0.00004
|
NM_144670.6(A2ML1):c.2568G>A (p.Trp856Ter)
|
rs375977821
|
0.00004
|
NM_144670.6(A2ML1):c.2670A>T (p.Gln890His)
|
rs767309974
|
0.00004
|
NM_144670.6(A2ML1):c.2945T>C (p.Ile982Thr)
|
rs759983928
|
0.00004
|
NM_144670.6(A2ML1):c.3085C>T (p.Arg1029Ter)
|
rs546427345
|
0.00004
|
NM_144670.6(A2ML1):c.3145C>G (p.Gln1049Glu)
|
rs368566164
|
0.00004
|
NM_144670.6(A2ML1):c.3154A>G (p.Ile1052Val)
|
rs753161669
|
0.00004
|
NM_144670.6(A2ML1):c.375G>T (p.Gln125His)
|
rs377484849
|
0.00004
|
NM_144670.6(A2ML1):c.3935C>T (p.Thr1312Met)
|
rs201083574
|
0.00004
|
NM_144670.6(A2ML1):c.4180G>T (p.Val1394Phe)
|
rs756796720
|
0.00004
|
NM_144670.6(A2ML1):c.650C>T (p.Pro217Leu)
|
rs773797927
|
0.00004
|
NM_144670.6(A2ML1):c.815G>A (p.Arg272Gln)
|
rs372782124
|
0.00004
|
NM_144670.6(A2ML1):c.89G>A (p.Arg30Gln)
|
rs756640163
|
0.00004
|
NM_144670.6(A2ML1):c.1387A>C (p.Lys463Gln)
|
rs764536586
|
0.00003
|
NM_144670.6(A2ML1):c.1678A>G (p.Asn560Asp)
|
rs764188902
|
0.00003
|
NM_144670.6(A2ML1):c.2379C>G (p.Asp793Glu)
|
rs754179635
|
0.00003
|
NM_144670.6(A2ML1):c.2470A>G (p.Thr824Ala)
|
rs969030959
|
0.00003
|
NM_144670.6(A2ML1):c.256C>T (p.Pro86Ser)
|
rs766201825
|
0.00003
|
NM_144670.6(A2ML1):c.2669A>C (p.Gln890Pro)
|
rs768785455
|
0.00003
|
NM_144670.6(A2ML1):c.3218G>A (p.Ser1073Asn)
|
rs745334410
|
0.00003
|
NM_144670.6(A2ML1):c.3343C>T (p.Pro1115Ser)
|
rs372562512
|
0.00003
|
NM_144670.6(A2ML1):c.346C>G (p.Gln116Glu)
|
rs778697812
|
0.00003
|
NM_144670.6(A2ML1):c.3547G>A (p.Ala1183Thr)
|
rs766181132
|
0.00003
|
NM_144670.6(A2ML1):c.4094C>T (p.Ala1365Val)
|
rs765371747
|
0.00003
|
NM_144670.6(A2ML1):c.4222-3C>T
|
rs776374407
|
0.00003
|
NM_144670.6(A2ML1):c.462G>A (p.Lys154=)
|
rs762811758
|
0.00003
|
NM_144670.6(A2ML1):c.483+5G>A
|
rs774337512
|
0.00003
|
NM_144670.6(A2ML1):c.653A>G (p.Lys218Arg)
|
rs1253780933
|
0.00003
|
NM_144670.6(A2ML1):c.748A>C (p.Met250Leu)
|
rs377672586
|
0.00003
|
NM_144670.6(A2ML1):c.913G>A (p.Gly305Arg)
|
rs762795796
|
0.00003
|
NM_144670.6(A2ML1):c.920C>T (p.Ala307Val)
|
rs189848036
|
0.00003
|
NM_144670.6(A2ML1):c.1081A>G (p.Ile361Val)
|
rs1240129654
|
0.00002
|
NM_144670.6(A2ML1):c.1224G>C (p.Trp408Cys)
|
rs372461898
|
0.00002
|
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn)
|
rs368024371
|
0.00002
|
NM_144670.6(A2ML1):c.1802T>C (p.Leu601Pro)
|
rs773062742
|
0.00002
|
NM_144670.6(A2ML1):c.1969C>T (p.Arg657Cys)
|
rs1449723526
|
0.00002
|
NM_144670.6(A2ML1):c.2010C>A (p.Asp670Glu)
|
rs763091079
|
0.00002
|
NM_144670.6(A2ML1):c.2117G>A (p.Gly706Asp)
|
rs772497821
|
0.00002
|
NM_144670.6(A2ML1):c.2176G>T (p.Asp726Tyr)
|
rs771684169
|
0.00002
|
NM_144670.6(A2ML1):c.2188C>T (p.Arg730Cys)
|
rs753349449
|
0.00002
|
NM_144670.6(A2ML1):c.2276C>T (p.Ala759Val)
|
rs774472456
|
0.00002
|
NM_144670.6(A2ML1):c.2329G>A (p.Gly777Arg)
|
rs201288888
|
0.00002
|
NM_144670.6(A2ML1):c.2511G>C (p.Trp837Cys)
|
rs746074032
|
0.00002
|
NM_144670.6(A2ML1):c.269C>T (p.Thr90Ile)
|
rs369174815
|
0.00002
|
NM_144670.6(A2ML1):c.2822C>T (p.Ser941Leu)
|
rs780461710
|
0.00002
|
NM_144670.6(A2ML1):c.3037G>T (p.Glu1013Ter)
|
rs1228315173
|
0.00002
|
NM_144670.6(A2ML1):c.3136G>C (p.Gly1046Arg)
|
rs374518651
|
0.00002
|
NM_144670.6(A2ML1):c.3265-3T>C
|
rs977956433
|
0.00002
|
NM_144670.6(A2ML1):c.3353G>A (p.Ser1118Asn)
|
rs1443570651
|
0.00002
|
NM_144670.6(A2ML1):c.3503-3T>C
|
rs748270792
|
0.00002
|
NM_144670.6(A2ML1):c.3697G>A (p.Gly1233Arg)
|
rs375981985
|
0.00002
|
NM_144670.6(A2ML1):c.3829A>G (p.Asn1277Asp)
|
rs185559416
|
0.00002
|
NM_144670.6(A2ML1):c.3933+4A>G
|
rs779680238
|
0.00002
|
NM_144670.6(A2ML1):c.3937G>A (p.Val1313Met)
|
rs369047089
|
0.00002
|
NM_144670.6(A2ML1):c.4036T>A (p.Ser1346Thr)
|
rs1441229879
|
0.00002
|
NM_144670.6(A2ML1):c.407A>G (p.Gln136Arg)
|
rs759951446
|
0.00002
|
NM_144670.6(A2ML1):c.409+1G>A
|
rs1454374124
|
0.00002
|
NM_144670.6(A2ML1):c.419G>A (p.Arg140His)
|
rs768879801
|
0.00002
|
NM_144670.6(A2ML1):c.4361A>G (p.Glu1454Gly)
|
rs374569843
|
0.00002
|
NM_144670.6(A2ML1):c.803G>A (p.Arg268Gln)
|
rs767510479
|
0.00002
|
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val)
|
rs775772721
|
0.00002
|
NM_144670.6(A2ML1):c.971-3C>T
|
rs755855348
|
0.00002
|
NM_144670.6(A2ML1):c.*1+1G>A
|
rs1057518179
|
0.00001
|
NM_144670.6(A2ML1):c.106G>A (p.Val36Ile)
|
rs1242821843
|
0.00001
|
NM_144670.6(A2ML1):c.1091G>A (p.Arg364Lys)
|
rs764961744
|
0.00001
|
NM_144670.6(A2ML1):c.1154G>T (p.Gly385Val)
|
rs866399982
|
0.00001
|
NM_144670.6(A2ML1):c.115G>A (p.Val39Ile)
|
rs1185024239
|
0.00001
|
NM_144670.6(A2ML1):c.1175T>C (p.Val392Ala)
|
rs78584364
|
0.00001
|
NM_144670.6(A2ML1):c.1201T>C (p.Phe401Leu)
|
rs769029517
|
0.00001
|
NM_144670.6(A2ML1):c.1231A>C (p.Thr411Pro)
|
rs371576976
|
0.00001
|
NM_144670.6(A2ML1):c.1261A>T (p.Met421Leu)
|
rs768501124
|
0.00001
|
NM_144670.6(A2ML1):c.1265A>G (p.Glu422Gly)
|
rs369248688
|
0.00001
|
NM_144670.6(A2ML1):c.1283C>T (p.Pro428Leu)
|
rs200670981
|
0.00001
|
NM_144670.6(A2ML1):c.128T>C (p.Leu43Pro)
|
rs774360683
|
0.00001
|
NM_144670.6(A2ML1):c.1348C>T (p.Arg450Cys)
|
rs772972879
|
0.00001
|
NM_144670.6(A2ML1):c.1370G>A (p.Arg457Gln)
|
rs765417831
|
0.00001
|
NM_144670.6(A2ML1):c.139T>C (p.Tyr47His)
|
rs374395580
|
0.00001
|
NM_144670.6(A2ML1):c.1405G>C (p.Glu469Gln)
|
rs747823521
|
0.00001
|
NM_144670.6(A2ML1):c.1556C>G (p.Ser519Cys)
|
rs202176589
|
0.00001
|
NM_144670.6(A2ML1):c.1683+6A>G
|
rs370846070
|
0.00001
|
NM_144670.6(A2ML1):c.1718C>T (p.Pro573Leu)
|
rs1432449630
|
0.00001
|
NM_144670.6(A2ML1):c.1778C>A (p.Ala593Glu)
|
rs199779757
|
0.00001
|
NM_144670.6(A2ML1):c.1845G>A (p.Met615Ile)
|
rs1256253601
|
0.00001
|
NM_144670.6(A2ML1):c.1874A>G (p.Tyr625Cys)
|
rs759664362
|
0.00001
|
NM_144670.6(A2ML1):c.1918G>A (p.Asp640Asn)
|
rs483352823
|
0.00001
|
NM_144670.6(A2ML1):c.1981T>C (p.Trp661Arg)
|
rs777431100
|
0.00001
|
NM_144670.6(A2ML1):c.1988C>T (p.Pro663Leu)
|
rs201653915
|
0.00001
|
NM_144670.6(A2ML1):c.1991C>T (p.Ser664Leu)
|
rs187676229
|
0.00001
|
NM_144670.6(A2ML1):c.1999G>C (p.Glu667Gln)
|
rs200251270
|
0.00001
|
NM_144670.6(A2ML1):c.2006C>T (p.Thr669Met)
|
rs745912214
|
0.00001
|
NM_144670.6(A2ML1):c.2051C>T (p.Ser684Phe)
|
rs774848519
|
0.00001
|
NM_144670.6(A2ML1):c.2087A>T (p.His696Leu)
|
rs1943823481
|
0.00001
|
NM_144670.6(A2ML1):c.2120-10A>G
|
rs1043378879
|
0.00001
|
NM_144670.6(A2ML1):c.2120-2A>C
|
rs201096838
|
0.00001
|
NM_144670.6(A2ML1):c.2126G>A (p.Gly709Asp)
|
rs1943839450
|
0.00001
|
NM_144670.6(A2ML1):c.2147A>G (p.Glu716Gly)
|
rs770357451
|
0.00001
|
NM_144670.6(A2ML1):c.2238C>G (p.Asn746Lys)
|
rs369633399
|
0.00001
|
NM_144670.6(A2ML1):c.2429C>A (p.Ala810Asp)
|
rs778855832
|
0.00001
|
NM_144670.6(A2ML1):c.2458A>T (p.Ile820Phe)
|
rs1435627448
|
0.00001
|
NM_144670.6(A2ML1):c.2534G>A (p.Cys845Tyr)
|
rs764660758
|
0.00001
|
NM_144670.6(A2ML1):c.2572A>G (p.Ile858Val)
|
rs752399681
|
0.00001
|
NM_144670.6(A2ML1):c.2681G>A (p.Ser894Asn)
|
rs754026014
|
0.00001
|
NM_144670.6(A2ML1):c.2712+3G>C
|
rs1943986611
|
0.00001
|
NM_144670.6(A2ML1):c.2809A>G (p.Ile937Val)
|
rs866812216
|
0.00001
|
NM_144670.6(A2ML1):c.2827A>G (p.Lys943Glu)
|
rs1060500994
|
0.00001
|
NM_144670.6(A2ML1):c.2854A>C (p.Ile952Leu)
|
rs768513499
|
0.00001
|
NM_144670.6(A2ML1):c.2864C>T (p.Thr955Ile)
|
rs761040296
|
0.00001
|
NM_144670.6(A2ML1):c.2884G>T (p.Gly962Cys)
|
rs1302126744
|
0.00001
|
NM_144670.6(A2ML1):c.2885G>A (p.Gly962Asp)
|
rs767222884
|
0.00001
|
NM_144670.6(A2ML1):c.2913C>T (p.Gly971=)
|
rs778857180
|
0.00001
|
NM_144670.6(A2ML1):c.2914G>A (p.Glu972Lys)
|
rs760545562
|
0.00001
|
NM_144670.6(A2ML1):c.292G>A (p.Val98Met)
|
rs766855215
|
0.00001
|
NM_144670.6(A2ML1):c.2974G>C (p.Gly992Arg)
|
rs1944100418
|
0.00001
|
NM_144670.6(A2ML1):c.2975G>A (p.Gly992Glu)
|
rs1944100535
|
0.00001
|
NM_144670.6(A2ML1):c.3086G>A (p.Arg1029Gln)
|
rs762232957
|
0.00001
|
NM_144670.6(A2ML1):c.3116C>T (p.Ala1039Val)
|
rs769398333
|
0.00001
|
NM_144670.6(A2ML1):c.3161T>C (p.Ile1054Thr)
|
rs371117844
|
0.00001
|
NM_144670.6(A2ML1):c.3200C>T (p.Ala1067Val)
|
rs758909664
|
0.00001
|
NM_144670.6(A2ML1):c.3211C>T (p.Leu1071Phe)
|
rs778176693
|
0.00001
|
NM_144670.6(A2ML1):c.3230C>T (p.Ala1077Val)
|
rs964154627
|
0.00001
|
NM_144670.6(A2ML1):c.3245T>C (p.Leu1082Pro)
|
rs767438012
|
0.00001
|
NM_144670.6(A2ML1):c.3247C>T (p.Leu1083Phe)
|
rs371934378
|
0.00001
|
NM_144670.6(A2ML1):c.3264+5G>A
|
rs200006435
|
0.00001
|
NM_144670.6(A2ML1):c.3266G>A (p.Gly1089Asp)
|
rs1944235050
|
0.00001
|
NM_144670.6(A2ML1):c.3339T>G (p.Asp1113Glu)
|
rs770954051
|
0.00001
|
NM_144670.6(A2ML1):c.335A>G (p.Lys112Arg)
|
rs753721369
|
0.00001
|
NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His)
|
rs1466413438
|
0.00001
|
NM_144670.6(A2ML1):c.3427A>G (p.Ile1143Val)
|
rs1469715388
|
0.00001
|
NM_144670.6(A2ML1):c.3475C>T (p.Gln1159Ter)
|
rs199604768
|
0.00001
|
NM_144670.6(A2ML1):c.3523C>T (p.Gln1175Ter)
|
rs1037613124
|
0.00001
|
NM_144670.6(A2ML1):c.361G>A (p.Gly121Ser)
|
rs768048394
|
0.00001
|
NM_144670.6(A2ML1):c.3655A>G (p.Thr1219Ala)
|
rs1565489972
|
0.00001
|
NM_144670.6(A2ML1):c.3665T>C (p.Val1222Ala)
|
rs753369509
|
0.00001
|
NM_144670.6(A2ML1):c.3677C>A (p.Ala1226Asp)
|
rs958481200
|
0.00001
|
NM_144670.6(A2ML1):c.3710C>T (p.Ser1237Phe)
|
rs1181948169
|
0.00001
|
NM_144670.6(A2ML1):c.3936G>A (p.Thr1312=)
|
rs375784426
|
0.00001
|
NM_144670.6(A2ML1):c.3961C>T (p.Pro1321Ser)
|
rs777780229
|
0.00001
|
NM_144670.6(A2ML1):c.4000G>C (p.Gly1334Arg)
|
rs1052149878
|
0.00001
|
NM_144670.6(A2ML1):c.4009A>G (p.Arg1337Gly)
|
rs1435299149
|
0.00001
|
NM_144670.6(A2ML1):c.4070G>A (p.Gly1357Glu)
|
rs771609901
|
0.00001
|
NM_144670.6(A2ML1):c.409+5G>A
|
rs1429109147
|
0.00001
|
NM_144670.6(A2ML1):c.4097T>C (p.Ile1366Thr)
|
rs886041924
|
0.00001
|
NM_144670.6(A2ML1):c.4142C>T (p.Thr1381Ile)
|
rs1353787643
|
0.00001
|
NM_144670.6(A2ML1):c.4153-3C>T
|
rs754964236
|
0.00001
|
NM_144670.6(A2ML1):c.4221+2T>C
|
rs959378735
|
0.00001
|
NM_144670.6(A2ML1):c.4301A>G (p.Lys1434Arg)
|
rs953122803
|
0.00001
|
NM_144670.6(A2ML1):c.4324+2T>C
|
rs755555630
|
0.00001
|
NM_144670.6(A2ML1):c.4334C>A (p.Ala1445Glu)
|
rs200447138
|
0.00001
|
NM_144670.6(A2ML1):c.466T>C (p.Ser156Pro)
|
rs1943215133
|
0.00001
|
NM_144670.6(A2ML1):c.467C>T (p.Ser156Phe)
|
rs755364579
|
0.00001
|
NM_144670.6(A2ML1):c.483+6C>T
|
rs754169968
|
0.00001
|
NM_144670.6(A2ML1):c.532C>G (p.Gln178Glu)
|
rs756460452
|
0.00001
|
NM_144670.6(A2ML1):c.680A>G (p.Lys227Arg)
|
rs750612606
|
0.00001
|
NM_144670.6(A2ML1):c.724T>C (p.Cys242Arg)
|
rs777559324
|
0.00001
|
NM_144670.6(A2ML1):c.73G>A (p.Val25Met)
|
rs772906952
|
0.00001
|
NM_144670.6(A2ML1):c.791C>T (p.Thr264Ile)
|
rs954197919
|
0.00001
|
NM_144670.6(A2ML1):c.844C>A (p.Leu282Ile)
|
rs1482427203
|
0.00001
|
NM_144670.6(A2ML1):c.855+1G>A
|
rs746496110
|
0.00001
|
NM_144670.6(A2ML1):c.943G>A (p.Val315Met)
|
rs763486898
|
0.00001
|
NM_144670.6(A2ML1):c.964G>A (p.Gly322Arg)
|
rs751287968
|
0.00001
|
NM_144670.6(A2ML1):c.976G>T (p.Glu326Ter)
|
rs1007463257
|
0.00001
|
GRCh37/hg19 12p13.31(chr12:8966269-8986611)x1
|
|
|
NC_000012.11:g.(?_8975248)_(8976498_?)del
|
|
|
NC_000012.11:g.(?_8975248)_(8991838_?)del
|
|
|
NC_000012.11:g.(?_8995710)_(9027607_?)dup
|
|
|
NC_000012.11:g.(?_9000125)_(9007447_?)del
|
|
|
NC_000012.12:g.(?_8822632)_(8875031_?)dup
|
|
|
NC_000012.12:g.(?_8857487)_(8861317_?)del
|
|
|
NC_000012.12:g.(?_8857497)_(8861307_?)del
|
|
|
NM_144670.6(A2ML1):c.1016T>C (p.Met339Thr)
|
rs2136786935
|
|
NM_144670.6(A2ML1):c.1019G>T (p.Gly340Val)
|
|
|
NM_144670.6(A2ML1):c.1044C>G (p.Ser348Arg)
|
rs1437069980
|
|
NM_144670.6(A2ML1):c.1057C>T (p.Pro353Ser)
|
|
|
NM_144670.6(A2ML1):c.1058C>T (p.Pro353Leu)
|
|
|
NM_144670.6(A2ML1):c.1068del (p.Phe357fs)
|
|
|
NM_144670.6(A2ML1):c.1082_1083insTTCTTT (p.Ile361_Arg362insSerLeu)
|
rs1442165320
|
|
NM_144670.6(A2ML1):c.112_114del (p.Lys38del)
|
rs774086428
|
|
NM_144670.6(A2ML1):c.1154G>A (p.Gly385Glu)
|
|
|
NM_144670.6(A2ML1):c.1163A>C (p.Asn388Thr)
|
|
|
NM_144670.6(A2ML1):c.1176del (p.Thr393fs)
|
rs1943477947
|
|
NM_144670.6(A2ML1):c.1198C>T (p.Pro400Ser)
|
rs2136803734
|
|
NM_144670.6(A2ML1):c.1205C>T (p.Thr402Ile)
|
rs2136803780
|
|
NM_144670.6(A2ML1):c.1218del (p.Gly407fs)
|
rs1555109581
|
|
NM_144670.6(A2ML1):c.1219G>A (p.Gly407Ser)
|
rs921912575
|
|
NM_144670.6(A2ML1):c.1227T>A (p.Asn409Lys)
|
rs1943480079
|
|
NM_144670.6(A2ML1):c.1228G>A (p.Gly410Arg)
|
|
|
NM_144670.6(A2ML1):c.1238T>A (p.Val413Asp)
|
|
|
NM_144670.6(A2ML1):c.1243C>G (p.Leu415Val)
|
|
|
NM_144670.6(A2ML1):c.1297C>T (p.Arg433Cys)
|
|
|
NM_144670.6(A2ML1):c.1298G>A (p.Arg433His)
|
rs376035211
|
|
NM_144670.6(A2ML1):c.1309A>G (p.Asn437Asp)
|
|
|
NM_144670.6(A2ML1):c.1313C>A (p.Ala438Asp)
|
rs778105594
|
|
NM_144670.6(A2ML1):c.1313C>G (p.Ala438Gly)
|
rs778105594
|
|
NM_144670.6(A2ML1):c.1345A>G (p.Thr449Ala)
|
rs1943550917
|
|
NM_144670.6(A2ML1):c.1349G>A (p.Arg450His)
|
|
|
NM_144670.6(A2ML1):c.1357C>T (p.Leu453Phe)
|
|
|
NM_144670.6(A2ML1):c.1369C>T (p.Arg457Trp)
|
|
|
NM_144670.6(A2ML1):c.1377C>A (p.Asn459Lys)
|
|
|
NM_144670.6(A2ML1):c.137G>A (p.Gly46Glu)
|
rs757200771
|
|
NM_144670.6(A2ML1):c.137G>T (p.Gly46Val)
|
rs757200771
|
|
NM_144670.6(A2ML1):c.1391G>A (p.Cys464Tyr)
|
|
|
NM_144670.6(A2ML1):c.1394G>A (p.Gly465Asp)
|
rs757576013
|
|
NM_144670.6(A2ML1):c.13C>G (p.Leu5Val)
|
rs1419562889
|
|
NM_144670.6(A2ML1):c.1415T>C (p.Val472Ala)
|
|
|
NM_144670.6(A2ML1):c.141C>G (p.Tyr47Ter)
|
rs778669722
|
|
NM_144670.6(A2ML1):c.1427T>A (p.Ile476Asn)
|
|
|
NM_144670.6(A2ML1):c.1429G>A (p.Asp477Asn)
|
rs776595459
|
|
NM_144670.6(A2ML1):c.143G>C (p.Ser48Thr)
|
|
|
NM_144670.6(A2ML1):c.1471T>C (p.Tyr491His)
|
rs1060500995
|
|
NM_144670.6(A2ML1):c.1476+1G>A
|
|
|
NM_144670.6(A2ML1):c.1476+1G>T
|
|
|
NM_144670.6(A2ML1):c.1478T>C (p.Leu493Ser)
|
rs2136829726
|
|
NM_144670.6(A2ML1):c.1481T>C (p.Ile494Thr)
|
|
|
NM_144670.6(A2ML1):c.1487A>G (p.Lys496Arg)
|
rs771450618
|
|
NM_144670.6(A2ML1):c.1526_1527insCTTA (p.Lys510fs)
|
|
|
NM_144670.6(A2ML1):c.1537+1G>A
|
|
|
NM_144670.6(A2ML1):c.1537+1G>T
|
|
|
NM_144670.6(A2ML1):c.1577C>G (p.Ser526Trp)
|
|
|
NM_144670.6(A2ML1):c.1577C>T (p.Ser526Leu)
|
|
|
NM_144670.6(A2ML1):c.1589del (p.Pro530fs)
|
rs1943676133
|
|
NM_144670.6(A2ML1):c.158C>T (p.Thr53Met)
|
rs79149293
|
|
NM_144670.6(A2ML1):c.1598C>A (p.Ser533Tyr)
|
|
|
NM_144670.6(A2ML1):c.1612_1616dup (p.Ile539fs)
|
rs2136837411
|
|
NM_144670.6(A2ML1):c.1630G>A (p.Gly544Ser)
|
rs1032646451
|
|
NM_144670.6(A2ML1):c.1636del (p.Val545_Val546insTer)
|
|
|
NM_144670.6(A2ML1):c.164C>T (p.Thr55Ile)
|
rs999028234
|
|
NM_144670.6(A2ML1):c.1664A>G (p.Glu555Gly)
|
|
|
NM_144670.6(A2ML1):c.1674T>G (p.Phe558Leu)
|
|
|
NM_144670.6(A2ML1):c.1679A>G (p.Asn560Ser)
|
|
|
NM_144670.6(A2ML1):c.1683+3A>G
|
rs757399094
|
|
NM_144670.6(A2ML1):c.1684G>C (p.Val562Leu)
|
rs750546906
|
|
NM_144670.6(A2ML1):c.169G>A (p.Glu57Lys)
|
|
|
NM_144670.6(A2ML1):c.1723G>T (p.Ala575Ser)
|
|
|
NM_144670.6(A2ML1):c.1726G>C (p.Glu576Gln)
|
|
|
NM_144670.6(A2ML1):c.1738C>T (p.Gln580Ter)
|
rs1943737106
|
|
NM_144670.6(A2ML1):c.1742T>C (p.Leu581Pro)
|
|
|
NM_144670.6(A2ML1):c.1753C>T (p.Pro585Ser)
|
rs773327464
|
|
NM_144670.6(A2ML1):c.1765T>C (p.Cys589Arg)
|
|
|
NM_144670.6(A2ML1):c.1769C>A (p.Ala590Glu)
|
|
|
NM_144670.6(A2ML1):c.1769C>T (p.Ala590Val)
|
rs770246364
|
|
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu)
|
rs200673370
|
|
NM_144670.6(A2ML1):c.1777del (p.Ala593fs)
|
rs758076462
|
|
NM_144670.6(A2ML1):c.1778C>T (p.Ala593Val)
|
rs199779757
|
|
NM_144670.6(A2ML1):c.1781T>C (p.Val594Ala)
|
|
|
NM_144670.6(A2ML1):c.1784A>T (p.Asp595Val)
|
rs1462968334
|
|
NM_144670.6(A2ML1):c.1788G>C (p.Glu596Asp)
|
rs2136850485
|
|
NM_144670.6(A2ML1):c.1789_1790del (p.Ser597fs)
|
rs779516620
|
|
NM_144670.6(A2ML1):c.1805G>C (p.Arg602Thr)
|
|
|
NM_144670.6(A2ML1):c.1812C>G (p.Asp604Glu)
|
|
|
NM_144670.6(A2ML1):c.1816G>C (p.Glu606Gln)
|
|
|
NM_144670.6(A2ML1):c.1825A>C (p.Asn609His)
|
|
|
NM_144670.6(A2ML1):c.1826A>G (p.Asn609Ser)
|
|
|
NM_144670.6(A2ML1):c.1828C>T (p.Arg610Cys)
|
|
|
NM_144670.6(A2ML1):c.1829G>A (p.Arg610His)
|
|
|
NM_144670.6(A2ML1):c.1833+5G>A
|
|
|
NM_144670.6(A2ML1):c.1867T>G (p.Tyr623Asp)
|
|
|
NM_144670.6(A2ML1):c.1894C>T (p.Gln632Ter)
|
|
|
NM_144670.6(A2ML1):c.1917G>A (p.Trp639Ter)
|
rs1362623763
|
|
NM_144670.6(A2ML1):c.1949C>G (p.Pro650Arg)
|
|
|
NM_144670.6(A2ML1):c.1961C>G (p.Ser654Trp)
|
|
|
NM_144670.6(A2ML1):c.1964G>C (p.Ser655Thr)
|
|
|
NM_144670.6(A2ML1):c.1969C>G (p.Arg657Gly)
|
rs1449723526
|
|
NM_144670.6(A2ML1):c.1978A>T (p.Ile660Phe)
|
|
|
NM_144670.6(A2ML1):c.2009A>G (p.Asp670Gly)
|
|
|
NM_144670.6(A2ML1):c.2018G>A (p.Ser673Asn)
|
|
|
NM_144670.6(A2ML1):c.2018G>C (p.Ser673Thr)
|
|
|
NM_144670.6(A2ML1):c.2029-10T>A
|
rs2136866469
|
|
NM_144670.6(A2ML1):c.2029-3C>G
|
|
|
NM_144670.6(A2ML1):c.2032G>A (p.Val678Met)
|
rs148198269
|
|
NM_144670.6(A2ML1):c.2063T>C (p.Ile688Thr)
|
|
|
NM_144670.6(A2ML1):c.2069A>C (p.Lys690Thr)
|
|
|
NM_144670.6(A2ML1):c.2082_2083inv (p.Ser695Gly)
|
|
|
NM_144670.6(A2ML1):c.2083A>C (p.Ser695Arg)
|
|
|
NM_144670.6(A2ML1):c.2084G>A (p.Ser695Asn)
|
|
|
NM_144670.6(A2ML1):c.2103C>G (p.Tyr701Ter)
|
rs370270345
|
|
NM_144670.6(A2ML1):c.2120-21_2120-20delinsCG
|
|
|
NM_144670.6(A2ML1):c.2128G>A (p.Gly710Ser)
|
|
|
NM_144670.6(A2ML1):c.2129G>A (p.Gly710Asp)
|
|
|
NM_144670.6(A2ML1):c.2134C>G (p.Pro712Ala)
|
|
|
NM_144670.6(A2ML1):c.2145del (p.Phe715fs)
|
rs759217676
|
|
NM_144670.6(A2ML1):c.2149T>C (p.Ser717Pro)
|
|
|
NM_144670.6(A2ML1):c.2150C>G (p.Ser717Ter)
|
|
|
NM_144670.6(A2ML1):c.2152T>A (p.Ser718Thr)
|
|
|
NM_144670.6(A2ML1):c.2162T>A (p.Leu721Ter)
|
|
|
NM_144670.6(A2ML1):c.2180C>T (p.Ser727Phe)
|
|
|
NM_144670.6(A2ML1):c.218A>G (p.Lys73Arg)
|
|
|
NM_144670.6(A2ML1):c.2191C>T (p.Gln731Ter)
|
|
|
NM_144670.6(A2ML1):c.2210G>A (p.Trp737Ter)
|
rs1943843858
|
|
NM_144670.6(A2ML1):c.2216G>T (p.Trp739Leu)
|
|
|
NM_144670.6(A2ML1):c.2217G>C (p.Trp739Cys)
|
|
|
NM_144670.6(A2ML1):c.2234+2del
|
|
|
NM_144670.6(A2ML1):c.2234+5G>T
|
|
|
NM_144670.6(A2ML1):c.2235-3C>T
|
|
|
NM_144670.6(A2ML1):c.223C>A (p.His75Asn)
|
|
|
NM_144670.6(A2ML1):c.2242G>A (p.Gly748Arg)
|
rs2136878186
|
|
NM_144670.6(A2ML1):c.2251G>A (p.Ala751Thr)
|
|
|
NM_144670.6(A2ML1):c.2274C>A (p.Asp758Glu)
|
rs762980682
|
|
NM_144670.6(A2ML1):c.2284G>A (p.Glu762Lys)
|
rs756409438
|
|
NM_144670.6(A2ML1):c.2300G>C (p.Ser767Thr)
|
rs886042052
|
|
NM_144670.6(A2ML1):c.2306G>A (p.Cys769Tyr)
|
rs1205001818
|
|
NM_144670.6(A2ML1):c.2314C>T (p.Gln772Ter)
|
|
|
NM_144670.6(A2ML1):c.2342C>T (p.Thr781Ile)
|
rs1482681901
|
|
NM_144670.6(A2ML1):c.2373del (p.Phe791fs)
|
|
|
NM_144670.6(A2ML1):c.2401G>T (p.Val801Phe)
|
rs1555113215
|
|
NM_144670.6(A2ML1):c.2405G>T (p.Arg802Leu)
|
rs201562272
|
|
NM_144670.6(A2ML1):c.2419C>T (p.Arg807Cys)
|
|
|
NM_144670.6(A2ML1):c.2455T>G (p.Cys819Gly)
|
rs1161488755
|
|
NM_144670.6(A2ML1):c.246+5G>A
|
|
|
NM_144670.6(A2ML1):c.2463G>T (p.Arg821Ser)
|
rs1943910170
|
|
NM_144670.6(A2ML1):c.247-3C>G
|
|
|
NM_144670.6(A2ML1):c.2478_2485dup (p.Ser829fs)
|
rs863224951
|
|
NM_144670.6(A2ML1):c.2495A>G (p.Tyr832Cys)
|
|
|
NM_144670.6(A2ML1):c.2509T>C (p.Trp837Arg)
|
rs1439490873
|
|
NM_144670.6(A2ML1):c.250C>G (p.Pro84Ala)
|
|
|
NM_144670.6(A2ML1):c.2519C>A (p.Ser840Tyr)
|
|
|
NM_144670.6(A2ML1):c.2521C>T (p.Gln841Ter)
|
rs2136881581
|
|
NM_144670.6(A2ML1):c.2530del (p.Ser844fs)
|
rs2136881657
|
|
NM_144670.6(A2ML1):c.257C>T (p.Pro86Leu)
|
|
|
NM_144670.6(A2ML1):c.2585A>T (p.Lys862Ile)
|
|
|
NM_144670.6(A2ML1):c.2590+1G>A
|
|
|
NM_144670.6(A2ML1):c.2591G>A (p.Gly864Asp)
|
rs1943980987
|
|
NM_144670.6(A2ML1):c.2601C>G (p.Asn867Lys)
|
|
|
NM_144670.6(A2ML1):c.2608A>G (p.Ile870Val)
|
rs1943981721
|
|
NM_144670.6(A2ML1):c.2615C>T (p.Thr872Ile)
|
|
|
NM_144670.6(A2ML1):c.2630_2633del (p.Ser877fs)
|
|
|
NM_144670.6(A2ML1):c.2641T>C (p.Cys881Arg)
|
rs2136894115
|
|
NM_144670.6(A2ML1):c.2644G>C (p.Gly882Arg)
|
|
|
NM_144670.6(A2ML1):c.2645G>A (p.Gly882Glu)
|
|
|
NM_144670.6(A2ML1):c.2657G>T (p.Gly886Val)
|
rs2136894252
|
|
NM_144670.6(A2ML1):c.2661dup (p.Val888fs)
|
rs1171371768
|
|
NM_144670.6(A2ML1):c.2663T>A (p.Val888Asp)
|
|
|
NM_144670.6(A2ML1):c.2687C>T (p.Thr896Met)
|
|
|
NM_144670.6(A2ML1):c.26T>C (p.Met9Thr)
|
|
|
NM_144670.6(A2ML1):c.2707G>A (p.Val903Ile)
|
rs1416944345
|
|
NM_144670.6(A2ML1):c.2712+3G>A
|
|
|
NM_144670.6(A2ML1):c.2719_2720del (p.Gly907fs)
|
rs560609581
|
|
NM_144670.6(A2ML1):c.2728G>A (p.Val910Met)
|
|
|
NM_144670.6(A2ML1):c.272AAG[1] (p.Glu92del)
|
|
|
NM_144670.6(A2ML1):c.2752C>A (p.Leu918Met)
|
rs1944005605
|
|
NM_144670.6(A2ML1):c.2758C>G (p.Pro920Ala)
|
|
|
NM_144670.6(A2ML1):c.2764+1G>A
|
|
|
NM_144670.6(A2ML1):c.2764G>T (p.Gly922Ter)
|
|
|
NM_144670.6(A2ML1):c.2782T>C (p.Ser928Pro)
|
|
|
NM_144670.6(A2ML1):c.2796G>C (p.Glu932Asp)
|
|
|
NM_144670.6(A2ML1):c.2806G>A (p.Asp936Asn)
|
|
|
NM_144670.6(A2ML1):c.2815C>T (p.Pro939Ser)
|
rs1944034959
|
|
NM_144670.6(A2ML1):c.2825C>A (p.Thr942Asn)
|
|
|
NM_144670.6(A2ML1):c.2834A>G (p.Tyr945Cys)
|
|
|
NM_144670.6(A2ML1):c.2849-10T>A
|
rs774394683
|
|
NM_144670.6(A2ML1):c.2849G>A (p.Gly950Glu)
|
rs267603716
|
|
NM_144670.6(A2ML1):c.2860G>T (p.Gly954Cys)
|
|
|
NM_144670.6(A2ML1):c.2866G>A (p.Ala956Thr)
|
|
|
NM_144670.6(A2ML1):c.2881G>A (p.Asp961Asn)
|
|
|
NM_144670.6(A2ML1):c.2884G>A (p.Gly962Ser)
|
|
|
NM_144670.6(A2ML1):c.2890G>A (p.Val964Met)
|
rs1384506220
|
|
NM_144670.6(A2ML1):c.2893C>T (p.Gln965Ter)
|
|
|
NM_144670.6(A2ML1):c.2899C>G (p.Pro967Ala)
|
|
|
NM_144670.6(A2ML1):c.289C>T (p.Arg97Trp)
|
rs199701571
|
|
NM_144670.6(A2ML1):c.2903G>A (p.Ser968Asn)
|
|
|
NM_144670.6(A2ML1):c.290G>A (p.Arg97Gln)
|
|
|
NM_144670.6(A2ML1):c.2911G>T (p.Gly971Cys)
|
|
|
NM_144670.6(A2ML1):c.292_294del (p.Val98del)
|
rs2136697564
|
|
NM_144670.6(A2ML1):c.2939C>T (p.Pro980Leu)
|
rs1944098763
|
|
NM_144670.6(A2ML1):c.2950G>A (p.Val984Ile)
|
rs1353229912
|
|
NM_144670.6(A2ML1):c.2956C>T (p.Gln986Ter)
|
|
|
NM_144670.6(A2ML1):c.296C>T (p.Ser99Leu)
|
|
|
NM_144670.6(A2ML1):c.2986GAG[1] (p.Glu997del)
|
|
|
NM_144670.6(A2ML1):c.3005C>T (p.Ala1002Val)
|
rs893125031
|
|
NM_144670.6(A2ML1):c.3025+3A>G
|
|
|
NM_144670.6(A2ML1):c.3026G>A (p.Gly1009Glu)
|
|
|
NM_144670.6(A2ML1):c.3058A>G (p.Asn1020Asp)
|
|
|
NM_144670.6(A2ML1):c.3070A>C (p.Ser1024Arg)
|
|
|
NM_144670.6(A2ML1):c.3074C>T (p.Ala1025Val)
|
|
|
NM_144670.6(A2ML1):c.3086G>C (p.Arg1029Pro)
|
rs762232957
|
|
NM_144670.6(A2ML1):c.313A>G (p.Ile105Val)
|
|
|
NM_144670.6(A2ML1):c.3150del (p.Lys1050fs)
|
|
|
NM_144670.6(A2ML1):c.3153C>A (p.Phe1051Leu)
|
|
|
NM_144670.6(A2ML1):c.3172A>G (p.Asn1058Asp)
|
|
|
NM_144670.6(A2ML1):c.3203G>A (p.Gly1068Glu)
|
|
|
NM_144670.6(A2ML1):c.3220G>A (p.Gly1074Ser)
|
rs2136918082
|
|
NM_144670.6(A2ML1):c.3223T>C (p.Cys1075Arg)
|
|
|
NM_144670.6(A2ML1):c.3233A>T (p.Asn1078Ile)
|
rs769308270
|
|
NM_144670.6(A2ML1):c.3241A>G (p.Asn1081Asp)
|
|
|
NM_144670.6(A2ML1):c.3264+4C>T
|
|
|
NM_144670.6(A2ML1):c.3281A>G (p.Glu1094Gly)
|
rs1944236208
|
|
NM_144670.6(A2ML1):c.3292A>G (p.Thr1098Ala)
|
rs1944236841
|
|
NM_144670.6(A2ML1):c.3334G>A (p.Val1112Ile)
|
|
|
NM_144670.6(A2ML1):c.3337G>A (p.Asp1113Asn)
|
rs2136930113
|
|
NM_144670.6(A2ML1):c.3340-3T>G
|
|
|
NM_144670.6(A2ML1):c.3346A>C (p.Met1116Leu)
|
rs79889829
|
|
NM_144670.6(A2ML1):c.3346A>T (p.Met1116Leu)
|
|
|
NM_144670.6(A2ML1):c.3359G>A (p.Gly1120Asp)
|
|
|
NM_144670.6(A2ML1):c.3359G>T (p.Gly1120Val)
|
|
|
NM_144670.6(A2ML1):c.3386C>T (p.Thr1129Ile)
|
|
|
NM_144670.6(A2ML1):c.3398A>G (p.Asn1133Ser)
|
|
|
NM_144670.6(A2ML1):c.340C>G (p.Leu114Val)
|
|
|
NM_144670.6(A2ML1):c.3422C>G (p.Ala1141Gly)
|
|
|
NM_144670.6(A2ML1):c.3427_3430dup (p.Phe1144fs)
|
|
|
NM_144670.6(A2ML1):c.3430T>C (p.Phe1144Leu)
|
rs1198962521
|
|
NM_144670.6(A2ML1):c.3434C>A (p.Ser1145Tyr)
|
|
|
NM_144670.6(A2ML1):c.3439G>A (p.Ala1147Thr)
|
|
|
NM_144670.6(A2ML1):c.3454A>G (p.Ile1152Val)
|
|
|
NM_144670.6(A2ML1):c.3466C>T (p.Leu1156Phe)
|
|
|
NM_144670.6(A2ML1):c.3475_3476del (p.Gln1159fs)
|
rs2136931820
|
|
NM_144670.6(A2ML1):c.3488A>T (p.Gln1163Leu)
|
rs1944253824
|
|
NM_144670.6(A2ML1):c.3492_3495dup (p.Ile1166fs)
|
rs1199328904
|
|
NM_144670.6(A2ML1):c.3497T>C (p.Ile1166Thr)
|
rs2136932050
|
|
NM_144670.6(A2ML1):c.3502+5G>A
|
|
|
NM_144670.6(A2ML1):c.3503G>C (p.Gly1168Ala)
|
|
|
NM_144670.6(A2ML1):c.3509C>T (p.Ser1170Phe)
|
rs1944348517
|
|
NM_144670.6(A2ML1):c.3511A>G (p.Ile1171Val)
|
|
|
NM_144670.6(A2ML1):c.3521G>T (p.Ser1174Ile)
|
|
|
NM_144670.6(A2ML1):c.3523C>A (p.Gln1175Lys)
|
|
|
NM_144670.6(A2ML1):c.3554C>G (p.Pro1185Arg)
|
rs942636799
|
|
NM_144670.6(A2ML1):c.3559T>G (p.Ser1187Ala)
|
|
|
NM_144670.6(A2ML1):c.3603G>C (p.Leu1201Phe)
|
|
|
NM_144670.6(A2ML1):c.3612_3613delinsTATGCA (p.Gln1204fs)
|
rs1565489901
|
|
NM_144670.6(A2ML1):c.3615_3617delinsAA (p.Lys1207fs)
|
rs1944353833
|
|
NM_144670.6(A2ML1):c.3617_3618insAAAGCCCAGCCTAC (p.Thr1211fs)
|
rs1944353833
|
|
NM_144670.6(A2ML1):c.3619A>G (p.Lys1207Glu)
|
|
|
NM_144670.6(A2ML1):c.3621G>C (p.Lys1207Asn)
|
|
|
NM_144670.6(A2ML1):c.3622C>T (p.Pro1208Ser)
|
rs1944354265
|
|
NM_144670.6(A2ML1):c.3623C>G (p.Pro1208Arg)
|
|
|
NM_144670.6(A2ML1):c.3625A>C (p.Ser1209Arg)
|
|
|
NM_144670.6(A2ML1):c.3632_3633delinsAC (p.Thr1211Asn)
|
|
|
NM_144670.6(A2ML1):c.3646G>C (p.Ala1216Pro)
|
rs1019595713
|
|
NM_144670.6(A2ML1):c.3668C>T (p.Ala1223Val)
|
|
|
NM_144670.6(A2ML1):c.3670T>C (p.Trp1224Arg)
|
rs765103217
|
|
NM_144670.6(A2ML1):c.3673T>G (p.Leu1225Val)
|
|
|
NM_144670.6(A2ML1):c.3677C>G (p.Ala1226Gly)
|
rs958481200
|
|
NM_144670.6(A2ML1):c.3682C>T (p.Gln1228Ter)
|
|
|
NM_144670.6(A2ML1):c.3685_3686inv (p.His1229Cys)
|
|
|
NM_144670.6(A2ML1):c.3689A>G (p.Asn1230Ser)
|
rs1416042421
|
|
NM_144670.6(A2ML1):c.3695A>G (p.Tyr1232Cys)
|
|
|
NM_144670.6(A2ML1):c.3701del (p.Gly1234fs)
|
|
|
NM_144670.6(A2ML1):c.3717+3A>C
|
|
|
NM_144670.6(A2ML1):c.3718-2del
|
rs2136956753
|
|
NM_144670.6(A2ML1):c.3725T>C (p.Val1242Ala)
|
|
|
NM_144670.6(A2ML1):c.3748A>T (p.Lys1250Ter)
|
rs1403738657
|
|
NM_144670.6(A2ML1):c.3754G>A (p.Ala1252Thr)
|
|
|
NM_144670.6(A2ML1):c.3755C>T (p.Ala1252Val)
|
|
|
NM_144670.6(A2ML1):c.3757A>T (p.Thr1253Ser)
|
|
|
NM_144670.6(A2ML1):c.3775T>C (p.Ser1259Pro)
|
rs1565492493
|
|
NM_144670.6(A2ML1):c.3776C>T (p.Ser1259Phe)
|
|
|
NM_144670.6(A2ML1):c.3778G>A (p.Glu1260Lys)
|
rs2136957261
|
|
NM_144670.6(A2ML1):c.3797dup (p.Ser1268fs)
|
rs1488712517
|
|
NM_144670.6(A2ML1):c.3830A>G (p.Asn1277Ser)
|
|
|
NM_144670.6(A2ML1):c.3832A>C (p.Ile1278Leu)
|
|
|
NM_144670.6(A2ML1):c.3833T>C (p.Ile1278Thr)
|
|
|
NM_144670.6(A2ML1):c.3837G>T (p.Gln1279His)
|
rs1944476888
|
|
NM_144670.6(A2ML1):c.3853G>T (p.Val1285Leu)
|
|
|
NM_144670.6(A2ML1):c.3887G>C (p.Gly1296Ala)
|
rs2136958139
|
|
NM_144670.6(A2ML1):c.3891G>A (p.Met1297Ile)
|
rs754013433
|
|
NM_144670.6(A2ML1):c.389T>C (p.Leu130Pro)
|
rs1942832495
|
|
NM_144670.6(A2ML1):c.3917G>T (p.Gly1306Val)
|
|
|
NM_144670.6(A2ML1):c.3919T>C (p.Cys1307Arg)
|
|
|
NM_144670.6(A2ML1):c.3926A>G (p.Tyr1309Cys)
|
rs755582489
|
|
NM_144670.6(A2ML1):c.3971T>C (p.Met1324Thr)
|
|
|
NM_144670.6(A2ML1):c.4003A>G (p.Lys1335Glu)
|
|
|
NM_144670.6(A2ML1):c.4010G>C (p.Arg1337Thr)
|
|
|
NM_144670.6(A2ML1):c.4022C>T (p.Pro1341Leu)
|
|
|
NM_144670.6(A2ML1):c.4033C>G (p.Arg1345Gly)
|
|
|
NM_144670.6(A2ML1):c.4049C>T (p.Thr1350Ile)
|
|
|
NM_144670.6(A2ML1):c.4061+1G>C
|
rs202067416
|
|
NM_144670.6(A2ML1):c.4061+3G>A
|
|
|
NM_144670.6(A2ML1):c.4074C>G (p.Ser1358Arg)
|
rs1229057255
|
|
NM_144670.6(A2ML1):c.4098dup (p.Val1367fs)
|
rs1944509959
|
|
NM_144670.6(A2ML1):c.4113G>A (p.Met1371Ile)
|
rs1592156688
|
|
NM_144670.6(A2ML1):c.411del (p.Tyr138fs)
|
|
|
NM_144670.6(A2ML1):c.4121G>A (p.Gly1374Glu)
|
rs1057524238
|
|
NM_144670.6(A2ML1):c.4139G>T (p.Gly1380Val)
|
|
|
NM_144670.6(A2ML1):c.4145A>G (p.Asn1382Ser)
|
|
|
NM_144670.6(A2ML1):c.4171G>A (p.Val1391Met)
|
|
|
NM_144670.6(A2ML1):c.4183G>A (p.Glu1395Lys)
|
|
|
NM_144670.6(A2ML1):c.4183G>T (p.Glu1395Ter)
|
|
|
NM_144670.6(A2ML1):c.4218T>A (p.Asp1406Glu)
|
|
|
NM_144670.6(A2ML1):c.4221+2dup
|
|
|
NM_144670.6(A2ML1):c.4221+6T>G
|
|
|
NM_144670.6(A2ML1):c.4267_4274del (p.Val1423fs)
|
rs2136995495
|
|
NM_144670.6(A2ML1):c.4277C>A (p.Thr1426Asn)
|
|
|
NM_144670.6(A2ML1):c.4309G>A (p.Asp1437Asn)
|
|
|
NM_144670.6(A2ML1):c.4312T>C (p.Tyr1438His)
|
|
|
NM_144670.6(A2ML1):c.431T>C (p.Met144Thr)
|
|
|
NM_144670.6(A2ML1):c.4325A>G (p.Asp1442Gly)
|
rs1944755198
|
|
NM_144670.6(A2ML1):c.4332G>C (p.Gln1444His)
|
|
|
NM_144670.6(A2ML1):c.4339A>T (p.Ile1447Phe)
|
rs1201862429
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NM_144670.6(A2ML1):c.4358G>A (p.Cys1453Tyr)
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NM_144670.6(A2ML1):c.460A>G (p.Lys154Glu)
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rs1943050288
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NM_144670.6(A2ML1):c.462+1G>T
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NM_144670.6(A2ML1):c.462+2T>C
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rs201877710
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NM_144670.6(A2ML1):c.462+6T>C
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rs926197497
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NM_144670.6(A2ML1):c.463-2A>C
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NM_144670.6(A2ML1):c.463-2A>G
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rs1410846189
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NM_144670.6(A2ML1):c.470T>C (p.Met157Thr)
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NM_144670.6(A2ML1):c.474G>A (p.Val158=)
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rs1016762458
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NM_144670.6(A2ML1):c.481C>G (p.Gln161Glu)
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rs1412258468
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NM_144670.6(A2ML1):c.490A>T (p.Asn164Tyr)
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rs1943242316
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NM_144670.6(A2ML1):c.492T>C (p.Asn164=)
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NM_144670.6(A2ML1):c.494G>A (p.Ser165Asn)
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rs962354900
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NM_144670.6(A2ML1):c.504T>A (p.Ile168=)
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NM_144670.6(A2ML1):c.508C>T (p.Gln170Ter)
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NM_144670.6(A2ML1):c.50C>A (p.Ala17Glu)
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rs1391269221
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NM_144670.6(A2ML1):c.512G>A (p.Trp171Ter)
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NM_144670.6(A2ML1):c.52GAA[1] (p.Glu19del)
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NM_144670.6(A2ML1):c.539T>C (p.Ile180Thr)
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NM_144670.6(A2ML1):c.576G>C (p.Met192Ile)
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rs2136761632
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NM_144670.6(A2ML1):c.581G>A (p.Gly194Asp)
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NM_144670.6(A2ML1):c.601G>T (p.Ala201Ser)
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NM_144670.6(A2ML1):c.614C>T (p.Thr205Ile)
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rs1478678570
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NM_144670.6(A2ML1):c.61C>A (p.Pro21Thr)
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NM_144670.6(A2ML1):c.62+1G>A
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NM_144670.6(A2ML1):c.62+1G>C
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rs200764174
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NM_144670.6(A2ML1):c.623C>T (p.Thr208Ile)
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NM_144670.6(A2ML1):c.630T>G (p.Ser210Arg)
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rs1565466561
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NM_144670.6(A2ML1):c.634G>T (p.Glu212Ter)
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NM_144670.6(A2ML1):c.635A>G (p.Glu212Gly)
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NM_144670.6(A2ML1):c.644-2A>T
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NM_144670.6(A2ML1):c.658A>G (p.Lys220Glu)
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rs201550299
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NM_144670.6(A2ML1):c.679A>G (p.Lys227Glu)
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NM_144670.6(A2ML1):c.68dup (p.Tyr23Ter)
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NM_144670.6(A2ML1):c.697C>T (p.Gln233Ter)
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NM_144670.6(A2ML1):c.69C>G (p.Tyr23Ter)
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NM_144670.6(A2ML1):c.70C>G (p.Leu24Val)
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rs1185230247
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NM_144670.6(A2ML1):c.729G>T (p.Arg243Ser)
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NM_144670.6(A2ML1):c.737A>G (p.Tyr246Cys)
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NM_144670.6(A2ML1):c.743A>G (p.Lys248Arg)
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NM_144670.6(A2ML1):c.744G>C (p.Lys248Asn)
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NM_144670.6(A2ML1):c.746C>G (p.Pro249Arg)
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rs2136774349
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NM_144670.6(A2ML1):c.74T>C (p.Val25Ala)
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NM_144670.6(A2ML1):c.755G>A (p.Gly252Glu)
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rs1943320436
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NM_144670.6(A2ML1):c.764A>C (p.Gln255Pro)
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NM_144670.6(A2ML1):c.772G>C (p.Val258Leu)
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rs1943321535
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NM_144670.6(A2ML1):c.776_777del (p.Cys259fs)
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rs1592114348
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NM_144670.6(A2ML1):c.784G>A (p.Ala262Thr)
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NM_144670.6(A2ML1):c.787A>C (p.Asn263His)
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rs886041510
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NM_144670.6(A2ML1):c.792_793del (p.Tyr265fs)
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NM_144670.6(A2ML1):c.796T>C (p.Trp266Arg)
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rs1943322710
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NM_144670.6(A2ML1):c.797G>A (p.Trp266Ter)
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rs2136774929
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NM_144670.6(A2ML1):c.798G>A (p.Trp266Ter)
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rs1352276762
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NM_144670.6(A2ML1):c.802C>G (p.Arg268Gly)
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NM_144670.6(A2ML1):c.802C>T (p.Arg268Ter)
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NM_144670.6(A2ML1):c.844C>T (p.Leu282Phe)
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NM_144670.6(A2ML1):c.860A>G (p.Asp287Gly)
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NM_144670.6(A2ML1):c.868G>A (p.Gly290Arg)
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rs2136781223
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NM_144670.6(A2ML1):c.868G>C (p.Gly290Arg)
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NM_144670.6(A2ML1):c.88C>T (p.Arg30Trp)
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NM_144670.6(A2ML1):c.892A>T (p.Met298Leu)
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NM_144670.6(A2ML1):c.899C>T (p.Thr300Ile)
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NM_144670.6(A2ML1):c.902T>C (p.Phe301Ser)
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NM_144670.6(A2ML1):c.904G>A (p.Asp302Asn)
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NM_144670.6(A2ML1):c.918T>A (p.Tyr306Ter)
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rs2136782038
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NM_144670.6(A2ML1):c.931C>G (p.Gln311Glu)
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rs1440325153
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NM_144670.6(A2ML1):c.941T>C (p.Ile314Thr)
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NM_144670.6(A2ML1):c.957G>A (p.Val319=)
|
rs1943357879
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NM_144670.6(A2ML1):c.964G>C (p.Gly322Arg)
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NM_144670.6(A2ML1):c.965G>A (p.Gly322Glu)
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rs1943358225
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NM_144670.6(A2ML1):c.967A>T (p.Thr323Ser)
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NM_144670.6(A2ML1):c.970G>T (p.Gly324Cys)
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rs1943358684
|
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NM_144670.6(A2ML1):c.971-2A>G
|
rs2136786580
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NM_144670.6(A2ML1):c.971G>A (p.Gly324Asp)
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|
NM_144670.6(A2ML1):c.976G>A (p.Glu326Lys)
|
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NM_144670.6(A2ML1):c.977A>G (p.Glu326Gly)
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NM_144670.6(A2ML1):c.97T>C (p.Phe33Leu)
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NM_144670.6(A2ML1):c.97T>G (p.Phe33Val)
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|
NM_144670.6(A2ML1):c.983A>G (p.Asn328Ser)
|
|
|
NM_144670.6(A2ML1):c.993G>C (p.Gln331His)
|
|
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