NM_019109.5(ALG1):c.741-111T>C
|
rs2110339
|
0.96843
|
NM_019109.5(ALG1):c.391-24C>T
|
rs4786590
|
0.94238
|
NM_019109.5(ALG1):c.630-55G>A
|
rs7194217
|
0.94198
|
NM_019109.5(ALG1):c.540-111T>A
|
rs11076869
|
0.94065
|
NM_019109.5(ALG1):c.1188-77G>T
|
rs8056523
|
0.53440
|
NM_019109.5(ALG1):c.863-70C>T
|
rs1846689
|
0.50015
|
NM_019109.5(ALG1):c.863-84G>A
|
rs1846690
|
0.50001
|
NM_019109.5(ALG1):c.1149C>T (p.Phe383=)
|
rs1047732
|
0.48295
|
NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu)
|
rs9745522
|
0.11789
|
NM_019109.5(ALG1):c.723C>T (p.His241=)
|
rs7195893
|
0.07135
|
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn)
|
rs17849848
|
0.06910
|
NM_019109.5(ALG1):c.840G>C (p.Leu280=)
|
rs12921879
|
0.04852
|
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys)
|
rs112668461
|
0.01358
|
NM_019109.5(ALG1):c.1080G>A (p.Ala360=)
|
rs143939207
|
0.00467
|
NM_019109.5(ALG1):c.334A>C (p.Met112Leu)
|
rs113219939
|
0.00315
|
NM_019109.5(ALG1):c.539+16G>A
|
rs189715949
|
0.00311
|
NM_019109.5(ALG1):c.867C>T (p.Asp289=)
|
rs144029725
|
0.00265
|
NM_019109.4(ALG1):c.191C>A (p.Thr64Asn)
|
rs145474820
|
0.00246
|
NM_019109.5(ALG1):c.1092C>G (p.Val364=)
|
rs113602091
|
0.00221
|
NM_019109.5(ALG1):c.1222C>T (p.Leu408=)
|
rs149319732
|
0.00217
|
NM_201400.4(EEF2KMT):c.957G>C (p.Glu319Asp)
|
rs142385356
|
0.00184
|
NM_019109.5(ALG1):c.8C>A (p.Ala3Asp)
|
rs559805054
|
0.00096
|
NM_019109.5(ALG1):c.21C>T (p.Val7=)
|
rs149388535
|
0.00093
|
NM_019109.5(ALG1):c.787C>T (p.Arg263Trp)
|
rs145317306
|
0.00091
|
NM_019109.5(ALG1):c.766G>A (p.Glu256Lys)
|
rs147412842
|
0.00081
|
NM_019109.5(ALG1):c.902-20G>A
|
rs74249172
|
0.00059
|
NM_019109.5(ALG1):c.888G>A (p.Leu296=)
|
rs577972473
|
0.00056
|
NM_019109.5(ALG1):c.991C>T (p.Arg331Cys)
|
rs148933850
|
0.00052
|
NM_019109.5(ALG1):c.391-15C>G
|
rs374836725
|
0.00046
|
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln)
|
rs201975029
|
0.00045
|
NM_019109.4(ALG1):c.60G>A (p.Leu20=)
|
rs78694906
|
0.00043
|
NM_019109.5(ALG1):c.1089T>G (p.Gly363=)
|
rs146526768
|
0.00036
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_019109.5(ALG1):c.769C>T (p.Arg257Trp)
|
rs759843220
|
0.00031
|
NM_019109.5(ALG1):c.694C>T (p.Arg232Trp)
|
rs148301670
|
0.00026
|
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr)
|
rs143676440
|
0.00025
|
NM_019109.5(ALG1):c.540-13T>C
|
rs201477967
|
0.00023
|
NM_019109.5(ALG1):c.480C>T (p.Gly160=)
|
rs140674382
|
0.00020
|
NM_019109.5(ALG1):c.361A>C (p.Arg121=)
|
rs149695050
|
0.00016
|
NM_019109.5(ALG1):c.477T>C (p.Tyr159=)
|
rs145487895
|
0.00016
|
NM_019109.5(ALG1):c.629+20C>T
|
rs371416008
|
0.00014
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_019109.5(ALG1):c.1281T>C (p.Phe427=)
|
rs538385814
|
0.00013
|
NM_019109.5(ALG1):c.812C>T (p.Thr271Met)
|
rs368722637
|
0.00012
|
NM_019109.5(ALG1):c.1066C>G (p.Leu356Val)
|
rs569498428
|
0.00011
|
NM_019109.5(ALG1):c.284C>T (p.Ala95Val)
|
rs368284764
|
0.00011
|
NM_019109.5(ALG1):c.384T>C (p.Phe128=)
|
rs140626461
|
0.00011
|
NM_019109.5(ALG1):c.802G>A (p.Gly268Arg)
|
rs148611855
|
0.00011
|
NM_019109.4(ALG1):c.36T>C (p.Cys12=)
|
rs369180139
|
0.00010
|
NM_019109.5(ALG1):c.540-12C>G
|
rs200506548
|
0.00010
|
NM_019109.5(ALG1):c.863-15A>G
|
rs371947976
|
0.00010
|
NM_019109.5(ALG1):c.815G>A (p.Arg272His)
|
rs560302928
|
0.00009
|
NM_019109.5(ALG1):c.1263+16A>G
|
rs373065015
|
0.00008
|
NM_019109.5(ALG1):c.150G>A (p.Gln50=)
|
rs144380244
|
0.00008
|
NM_019109.5(ALG1):c.391-11A>G
|
rs767861344
|
0.00008
|
NM_019109.5(ALG1):c.457G>A (p.Val153Ile)
|
rs750216032
|
0.00008
|
NM_019109.5(ALG1):c.1179C>G (p.Asn393Lys)
|
rs537333921
|
0.00007
|
NM_019109.5(ALG1):c.37C>G (p.Leu13Val)
|
rs758104063
|
0.00007
|
NM_019109.5(ALG1):c.965A>G (p.Lys322Arg)
|
rs145851409
|
0.00007
|
NM_019109.5(ALG1):c.186G>T (p.Ser62=)
|
rs767351398
|
0.00006
|
NM_019109.5(ALG1):c.19G>A (p.Val7Ile)
|
rs199891552
|
0.00006
|
NM_019109.5(ALG1):c.20T>G (p.Val7Gly)
|
rs780711908
|
0.00006
|
NM_019109.5(ALG1):c.286+13C>G
|
rs767857889
|
0.00006
|
NM_019109.5(ALG1):c.286+15A>C
|
rs376062732
|
0.00006
|
NM_019109.5(ALG1):c.335T>C (p.Met112Thr)
|
rs150943251
|
0.00006
|
NM_019109.5(ALG1):c.485C>T (p.Ser162Phe)
|
rs755804171
|
0.00006
|
NM_019109.5(ALG1):c.728C>T (p.Pro243Leu)
|
rs570334955
|
0.00006
|
NM_019109.5(ALG1):c.770G>A (p.Arg257Gln)
|
rs763925138
|
0.00006
|
NM_019109.5(ALG1):c.962-6G>T
|
rs769389896
|
0.00006
|
NM_019109.5(ALG1):c.993C>T (p.Arg331=)
|
rs561385337
|
0.00006
|
NM_019109.5(ALG1):c.1188-4G>A
|
rs530972149
|
0.00005
|
NM_019109.5(ALG1):c.522C>T (p.Leu174=)
|
rs776753482
|
0.00005
|
NM_019109.5(ALG1):c.739C>T (p.Arg247Cys)
|
rs749270254
|
0.00005
|
NM_019109.5(ALG1):c.758C>A (p.Pro253Gln)
|
rs770327947
|
0.00005
|
NM_019109.5(ALG1):c.764C>T (p.Thr255Met)
|
rs143906919
|
0.00005
|
NM_019109.5(ALG1):c.774G>C (p.Ser258=)
|
rs757068692
|
0.00005
|
NM_019109.5(ALG1):c.1048G>A (p.Ala350Thr)
|
rs138275657
|
0.00004
|
NM_019109.5(ALG1):c.1077G>A (p.Ser359=)
|
rs564052127
|
0.00004
|
NM_019109.5(ALG1):c.121G>A (p.Gly41Ser)
|
rs1393282696
|
0.00004
|
NM_019109.5(ALG1):c.1234G>A (p.Asp412Asn)
|
rs200353530
|
0.00004
|
NM_019109.5(ALG1):c.1331C>T (p.Ser444Leu)
|
rs397839861
|
0.00004
|
NM_019109.5(ALG1):c.1353G>A (p.Glu451=)
|
rs772562254
|
0.00004
|
NM_019109.5(ALG1):c.212C>T (p.Ser71Phe)
|
rs200605408
|
0.00004
|
NM_019109.5(ALG1):c.221A>T (p.His74Leu)
|
rs201337379
|
0.00004
|
NM_019109.5(ALG1):c.304C>T (p.Gln102Ter)
|
rs780107088
|
0.00004
|
NM_019109.5(ALG1):c.309C>T (p.Tyr103=)
|
rs199553558
|
0.00004
|
NM_019109.5(ALG1):c.539+3G>C
|
rs1040920105
|
0.00004
|
NM_019109.5(ALG1):c.545A>C (p.Glu182Ala)
|
rs1011307139
|
0.00004
|
NM_019109.5(ALG1):c.639C>T (p.Thr213=)
|
rs753164786
|
0.00004
|
NM_019109.5(ALG1):c.654C>T (p.Pro218=)
|
rs375422039
|
0.00004
|
NM_019109.5(ALG1):c.682G>T (p.Asp228Tyr)
|
rs145158686
|
0.00004
|
NM_019109.5(ALG1):c.715A>C (p.Ser239Arg)
|
rs1373315673
|
0.00004
|
NM_019109.5(ALG1):c.741-13T>C
|
rs368398266
|
0.00004
|
NM_019109.5(ALG1):c.814C>T (p.Arg272Cys)
|
rs774593969
|
0.00004
|
NM_019109.5(ALG1):c.919C>G (p.Leu307Val)
|
rs368735974
|
0.00004
|
NM_019109.4(ALG1):c.208+12A>G
|
rs777062447
|
0.00003
|
NM_019109.5(ALG1):c.1050C>T (p.Ala350=)
|
rs777066439
|
0.00003
|
NM_019109.5(ALG1):c.1073-20C>T
|
rs779627691
|
0.00003
|
NM_019109.5(ALG1):c.1263+18C>T
|
rs570783073
|
0.00003
|
NM_019109.5(ALG1):c.1263+20C>T
|
rs1338515291
|
0.00003
|
NM_019109.5(ALG1):c.1275A>C (p.Ser425=)
|
rs746944961
|
0.00003
|
NM_019109.5(ALG1):c.286+10C>T
|
rs371480769
|
0.00003
|
NM_019109.5(ALG1):c.29C>T (p.Ala10Val)
|
rs767455250
|
0.00003
|
NM_019109.5(ALG1):c.539+15A>G
|
rs777450873
|
0.00003
|
NM_019109.5(ALG1):c.560G>A (p.Arg187His)
|
rs377600706
|
0.00003
|
NM_019109.5(ALG1):c.608T>C (p.Leu203Pro)
|
rs777949225
|
0.00003
|
NM_019109.5(ALG1):c.629+11C>T
|
rs776701190
|
0.00003
|
NM_019109.5(ALG1):c.648C>T (p.Asp216=)
|
rs141455029
|
0.00003
|
NM_019109.5(ALG1):c.726T>C (p.Ser242=)
|
rs780479533
|
0.00003
|
NM_019109.5(ALG1):c.821G>A (p.Arg274His)
|
rs529013891
|
0.00003
|
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp)
|
rs151173406
|
0.00003
|
NM_019109.5(ALG1):c.863A>G (p.Glu288Gly)
|
rs776908571
|
0.00003
|
NM_019109.5(ALG1):c.880A>C (p.Ile294Leu)
|
rs767003110
|
0.00003
|
NM_019109.5(ALG1):c.933C>A (p.Asn311Lys)
|
rs776299417
|
0.00003
|
NM_019109.5(ALG1):c.961+19G>A
|
rs768688738
|
0.00003
|
NM_019109.4(ALG1):c.196C>T (p.Leu66=)
|
rs753405851
|
0.00002
|
NM_019109.5(ALG1):c.1001A>G (p.His334Arg)
|
rs756058300
|
0.00002
|
NM_019109.5(ALG1):c.1055A>T (p.Asp352Val)
|
rs765238558
|
0.00002
|
NM_019109.5(ALG1):c.1187+1G>A
|
rs374928784
|
0.00002
|
NM_019109.5(ALG1):c.1188-2A>G
|
rs794727073
|
0.00002
|
NM_019109.5(ALG1):c.1250_1251insTG (p.Ala418fs)
|
rs746019074
|
0.00002
|
NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp)
|
rs764363207
|
0.00002
|
NM_019109.5(ALG1):c.135C>T (p.Arg45=)
|
rs779092735
|
0.00002
|
NM_019109.5(ALG1):c.1387G>T (p.Asp463Tyr)
|
rs765599429
|
0.00002
|
NM_019109.5(ALG1):c.1393T>C (p.Ter465Gln)
|
rs3204229
|
0.00002
|
NM_019109.5(ALG1):c.208+14_208+17dup
|
rs746780708
|
0.00002
|
NM_019109.5(ALG1):c.401G>C (p.Gly134Ala)
|
rs763309062
|
0.00002
|
NM_019109.5(ALG1):c.430G>A (p.Val144Met)
|
rs770392954
|
0.00002
|
NM_019109.5(ALG1):c.579G>A (p.Leu193=)
|
rs750145784
|
0.00002
|
NM_019109.5(ALG1):c.683A>G (p.Asp228Gly)
|
rs759264819
|
0.00002
|
NM_019109.5(ALG1):c.820C>T (p.Arg274Cys)
|
rs201867255
|
0.00002
|
NM_019109.5(ALG1):c.841G>T (p.Val281Phe)
|
rs553396382
|
0.00002
|
NM_019109.5(ALG1):c.932A>G (p.Asn311Ser)
|
rs549071467
|
0.00002
|
NM_019109.5(ALG1):c.934C>T (p.Leu312Phe)
|
rs761452986
|
0.00002
|
NM_019109.5(ALG1):c.941C>T (p.Ser314Phe)
|
rs569218235
|
0.00002
|
NM_019109.5(ALG1):c.945C>T (p.Leu315=)
|
rs766773704
|
0.00002
|
NM_019109.5(ALG1):c.1023C>T (p.Ile341=)
|
rs1254998724
|
0.00001
|
NM_019109.5(ALG1):c.1029C>G (p.Val343=)
|
rs1454696330
|
0.00001
|
NM_019109.5(ALG1):c.1032C>T (p.Cys344=)
|
rs745523769
|
0.00001
|
NM_019109.5(ALG1):c.1060C>T (p.Pro354Ser)
|
rs983547319
|
0.00001
|
NM_019109.5(ALG1):c.1072+14A>G
|
rs1320606156
|
0.00001
|
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)
|
rs398124348
|
0.00001
|
NM_019109.5(ALG1):c.1084C>T (p.Leu362=)
|
rs1366814290
|
0.00001
|
NM_019109.5(ALG1):c.1101C>T (p.His367=)
|
rs1428414601
|
0.00001
|
NM_019109.5(ALG1):c.1103C>T (p.Thr368Met)
|
rs762385611
|
0.00001
|
NM_019109.5(ALG1):c.1104G>A (p.Thr368=)
|
rs1315375927
|
0.00001
|
NM_019109.5(ALG1):c.1129A>G (p.Met377Val)
|
rs387906925
|
0.00001
|
NM_019109.5(ALG1):c.1146G>A (p.Met382Ile)
|
rs778368053
|
0.00001
|
NM_019109.5(ALG1):c.1185G>C (p.Lys395Asn)
|
rs1308517122
|
0.00001
|
NM_019109.5(ALG1):c.1263+8C>T
|
rs1442144835
|
0.00001
|
NM_019109.5(ALG1):c.126C>T (p.Asp42=)
|
rs1203067807
|
0.00001
|
NM_019109.5(ALG1):c.1282C>A (p.Pro428Thr)
|
rs1413293071
|
0.00001
|
NM_019109.5(ALG1):c.1293G>A (p.Ala431=)
|
rs1047714
|
0.00001
|
NM_019109.5(ALG1):c.1312C>T (p.Arg438Trp)
|
rs16835020
|
0.00001
|
NM_019109.5(ALG1):c.1316A>G (p.Lys439Arg)
|
rs1281758881
|
0.00001
|
NM_019109.5(ALG1):c.1360G>A (p.Val454Met)
|
rs1957095896
|
0.00001
|
NM_019109.5(ALG1):c.1374C>T (p.Leu458=)
|
rs776869363
|
0.00001
|
NM_019109.5(ALG1):c.138C>T (p.Ser46=)
|
rs148665912
|
0.00001
|
NM_019109.5(ALG1):c.142C>T
|
rs1051082443
|
0.00001
|
NM_019109.5(ALG1):c.159G>C (p.Ala53=)
|
rs776772780
|
0.00001
|
NM_019109.5(ALG1):c.201G>A (p.Gly67=)
|
rs1377122958
|
0.00001
|
NM_019109.5(ALG1):c.203T>A (p.Phe68Tyr)
|
rs1314923558
|
0.00001
|
NM_019109.5(ALG1):c.208+13G>A
|
rs794726945
|
0.00001
|
NM_019109.5(ALG1):c.219C>G (p.Pro73=)
|
rs776610922
|
0.00001
|
NM_019109.5(ALG1):c.22C>T (p.Leu8=)
|
rs144712188
|
0.00001
|
NM_019109.5(ALG1):c.259G>C (p.Gly87Arg)
|
rs187287792
|
0.00001
|
NM_019109.5(ALG1):c.262T>G (p.Leu88Val)
|
rs794727301
|
0.00001
|
NM_019109.5(ALG1):c.287T>C (p.Val96Ala)
|
rs534863399
|
0.00001
|
NM_019109.5(ALG1):c.295C>T (p.Arg99Ter)
|
rs750451819
|
0.00001
|
NM_019109.5(ALG1):c.296G>A (p.Arg99Gln)
|
rs1349600746
|
0.00001
|
NM_019109.5(ALG1):c.342G>A (p.Leu114=)
|
rs1596252196
|
0.00001
|
NM_019109.5(ALG1):c.377A>G (p.Tyr126Cys)
|
rs200094659
|
0.00001
|
NM_019109.5(ALG1):c.391-13C>G
|
rs768190163
|
0.00001
|
NM_019109.5(ALG1):c.399A>C (p.Pro133=)
|
rs200506666
|
0.00001
|
NM_019109.5(ALG1):c.443G>T (p.Cys148Phe)
|
rs767756401
|
0.00001
|
NM_019109.5(ALG1):c.450C>G (p.Ser150Arg)
|
rs121908340
|
0.00001
|
NM_019109.5(ALG1):c.516T>G (p.His172Gln)
|
rs1310088513
|
0.00001
|
NM_019109.5(ALG1):c.540-15G>C
|
rs1234821941
|
0.00001
|
NM_019109.5(ALG1):c.540-7T>G
|
rs1475479052
|
0.00001
|
NM_019109.5(ALG1):c.543C>T (p.Tyr181=)
|
rs375670899
|
0.00001
|
NM_019109.5(ALG1):c.575A>G (p.Asn192Ser)
|
rs760563077
|
0.00001
|
NM_019109.5(ALG1):c.590A>G (p.Asn197Ser)
|
rs780593921
|
0.00001
|
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)
|
rs1474783444
|
0.00001
|
NM_019109.5(ALG1):c.599G>A (p.Arg200Gln)
|
rs199674071
|
0.00001
|
NM_019109.5(ALG1):c.621G>A (p.Trp207Ter)
|
rs1956935335
|
0.00001
|
NM_019109.5(ALG1):c.630-10T>A
|
rs774092984
|
0.00001
|
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser)
|
rs528261173
|
0.00001
|
NM_019109.5(ALG1):c.70A>G (p.Lys24Glu)
|
rs1386626500
|
0.00001
|
NM_019109.5(ALG1):c.729G>T (p.Pro243=)
|
rs539568048
|
0.00001
|
NM_019109.5(ALG1):c.741-17T>C
|
rs757946127
|
0.00001
|
NM_019109.5(ALG1):c.748C>T (p.Pro250Ser)
|
rs1263087642
|
0.00001
|
NM_019109.5(ALG1):c.75C>G (p.Arg25=)
|
rs369610043
|
0.00001
|
NM_019109.5(ALG1):c.765G>A (p.Thr255=)
|
rs763065965
|
0.00001
|
NM_019109.5(ALG1):c.782C>T (p.Thr261Met)
|
rs534622519
|
0.00001
|
NM_019109.5(ALG1):c.823G>T (p.Glu275Ter)
|
rs1372794201
|
0.00001
|
NM_019109.5(ALG1):c.863-14T>C
|
rs780024263
|
0.00001
|
NM_019109.5(ALG1):c.863-2A>G
|
rs768733117
|
0.00001
|
NM_019109.5(ALG1):c.866A>G (p.Asp289Gly)
|
rs1180515976
|
0.00001
|
NM_019109.5(ALG1):c.886C>T (p.Leu296=)
|
rs760271727
|
0.00001
|
NM_019109.5(ALG1):c.899A>G (p.Glu300Gly)
|
rs1234795312
|
0.00001
|
NM_019109.5(ALG1):c.901+1G>A
|
rs1227251669
|
0.00001
|
NM_019109.5(ALG1):c.902-12T>A
|
rs781282806
|
0.00001
|
NM_019109.5(ALG1):c.961+6G>T
|
rs1304012856
|
0.00001
|
NM_019109.5(ALG1):c.962-20G>A
|
rs748104106
|
0.00001
|
NM_019109.5(ALG1):c.978G>A (p.Arg326=)
|
rs746218352
|
0.00001
|
NM_201400.4(EEF2KMT):c.*886C>G
|
rs758181814
|
0.00001
|
NM_201400.4(EEF2KMT):c.*893A>C
|
rs1047764
|
0.00001
|
GRCh37/hg19 16p13.3(chr16:5121789-5133778)
|
|
|
GRCh37/hg19 16p13.3(chr16:5129043-5129828)
|
|
|
Multiple alleles
|
|
|
NC_000016.10:g.(?_5080946)_(5097739_?)del
|
|
|
NC_000016.9:g.(?_5121851)_(5125557_?)del
|
|
|
NC_000016.9:g.(?_5121851)_(5127555_?)dup
|
|
|
NC_000016.9:g.(?_5121851)_(5134882_?)del
|
|
|
NC_000016.9:g.(?_5125369)_(5134882_?)del
|
|
|
NC_000016.9:g.(?_5130927)_(5131077_?)dup
|
|
|
NC_000016.9:g.(?_5132540)_(5134882_?)dup
|
|
|
NC_000016.9:g.(?_5134731)_(5134882_?)dup
|
|
|
NM_019109.4(ALG1):c.149A>G (p.Gln50Arg)
|
rs794726944
|
|
NM_019109.5(ALG1):c.1017_1019dup (p.Gln339dup)
|
rs2142721988
|
|
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro)
|
rs267606651
|
|
NM_019109.5(ALG1):c.102T>C (p.His34=)
|
|
|
NM_019109.5(ALG1):c.1034C>T (p.Thr345Ile)
|
|
|
NM_019109.5(ALG1):c.1037C>G (p.Pro346Arg)
|
rs398124347
|
|
NM_019109.5(ALG1):c.1038C>T (p.Pro346=)
|
|
|
NM_019109.5(ALG1):c.1042C>T (p.Leu348=)
|
rs2142722071
|
|
NM_019109.5(ALG1):c.1043T>G (p.Leu348Arg)
|
rs2142722084
|
|
NM_019109.5(ALG1):c.1051G>A (p.Glu351Lys)
|
|
|
NM_019109.5(ALG1):c.1056C>G (p.Asp352Glu)
|
|
|
NM_019109.5(ALG1):c.1057T>G (p.Tyr353Asp)
|
rs1596259672
|
|
NM_019109.5(ALG1):c.1059C>A (p.Tyr353Ter)
|
|
|
NM_019109.5(ALG1):c.1059C>T (p.Tyr353=)
|
|
|
NM_019109.5(ALG1):c.1062C>A (p.Pro354=)
|
|
|
NM_019109.5(ALG1):c.1062C>G (p.Pro354=)
|
|
|
NM_019109.5(ALG1):c.1062C>T (p.Pro354=)
|
rs909468865
|
|
NM_019109.5(ALG1):c.1063del (p.Leu355fs)
|
rs758259853
|
|
NM_019109.5(ALG1):c.1065G>A (p.Leu355=)
|
|
|
NM_019109.5(ALG1):c.1072+11A>G
|
|
|
NM_019109.5(ALG1):c.1072+12G>A
|
|
|
NM_019109.5(ALG1):c.1072+13C>A
|
|
|
NM_019109.5(ALG1):c.1072+13C>T
|
|
|
NM_019109.5(ALG1):c.1072+16G>A
|
|
|
NM_019109.5(ALG1):c.1072+1G>T
|
|
|
NM_019109.5(ALG1):c.1072+20C>G
|
|
|
NM_019109.5(ALG1):c.1072+20C>T
|
|
|
NM_019109.5(ALG1):c.1072+8G>T
|
|
|
NM_019109.5(ALG1):c.1073-12_1073-11del
|
rs1381566017
|
|
NM_019109.5(ALG1):c.1073-14C>T
|
|
|
NM_019109.5(ALG1):c.1073-19C>T
|
|
|
NM_019109.5(ALG1):c.1073-1G>A
|
|
|
NM_019109.5(ALG1):c.1073-2A>G
|
rs1957033825
|
|
NM_019109.5(ALG1):c.1073G>C (p.Gly358Ala)
|
|
|
NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu)
|
rs1299775990
|
|
NM_019109.5(ALG1):c.1080G>C (p.Ala360=)
|
|
|
NM_019109.5(ALG1):c.1080G>T (p.Ala360=)
|
rs143939207
|
|
NM_019109.5(ALG1):c.1081G>T (p.Asp361Tyr)
|
rs2142725570
|
|
NM_019109.5(ALG1):c.1086G>C (p.Leu362=)
|
|
|
NM_019109.5(ALG1):c.1090G>A (p.Val364Ile)
|
|
|
NM_019109.5(ALG1):c.1091_1092delinsGG (p.Val364Gly)
|
rs2142725608
|
|
NM_019109.5(ALG1):c.1095T>A (p.Cys365Ter)
|
|
|
NM_019109.5(ALG1):c.1095_1098del (p.Leu366fs)
|
|
|
NM_019109.5(ALG1):c.1097T>A (p.Leu366Gln)
|
rs1596261208
|
|
NM_019109.5(ALG1):c.1098G>C (p.Leu366=)
|
|
|
NM_019109.5(ALG1):c.1117C>T (p.Leu373=)
|
|
|
NM_019109.5(ALG1):c.1128C>A (p.Pro376=)
|
|
|
NM_019109.5(ALG1):c.1136T>G (p.Val379Gly)
|
rs1555452573
|
|
NM_019109.5(ALG1):c.1140G>A (p.Val380=)
|
rs2142725780
|
|
NM_019109.5(ALG1):c.1143C>T (p.Asp381=)
|
rs753000258
|
|
NM_019109.5(ALG1):c.1144A>G (p.Met382Val)
|
|
|
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr)
|
rs1596261268
|
|
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg)
|
rs1057520122
|
|
NM_019109.5(ALG1):c.115del (p.Val39fs)
|
rs886042130
|
|
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser)
|
rs398124349
|
|
NM_019109.5(ALG1):c.1163C>T (p.Pro388Leu)
|
|
|
NM_019109.5(ALG1):c.1165G>A (p.Val389Met)
|
rs2142725866
|
|
NM_019109.5(ALG1):c.1166T>C (p.Val389Ala)
|
rs1394994402
|
|
NM_019109.5(ALG1):c.1182C>G (p.Phe394Leu)
|
rs1386102245
|
|
NM_019109.5(ALG1):c.1187+12A>G
|
|
|
NM_019109.5(ALG1):c.1187+13C>A
|
|
|
NM_019109.5(ALG1):c.1187+14C>T
|
|
|
NM_019109.5(ALG1):c.1187+15C>G
|
|
|
NM_019109.5(ALG1):c.1187+17A>C
|
|
|
NM_019109.5(ALG1):c.1187+9A>G
|
|
|
NM_019109.5(ALG1):c.1188-10C>G
|
|
|
NM_019109.5(ALG1):c.1188-13G>C
|
|
|
NM_019109.5(ALG1):c.1188-14G>C
|
|
|
NM_019109.5(ALG1):c.1188-17C>G
|
|
|
NM_019109.5(ALG1):c.1188-1G>A
|
rs2142728485
|
|
NM_019109.5(ALG1):c.1188-8C>G
|
|
|
NM_019109.5(ALG1):c.1188-8C>T
|
|
|
NM_019109.5(ALG1):c.1188T>A (p.Cys396Ter)
|
rs387906927
|
|
NM_019109.5(ALG1):c.1193A>G (p.His398Arg)
|
rs1292094188
|
|
NM_019109.5(ALG1):c.1199T>G (p.Leu400Arg)
|
|
|
NM_019109.5(ALG1):c.119T>C (p.Leu40Pro)
|
rs2142698518
|
|
NM_019109.5(ALG1):c.11C>A (p.Ser4Ter)
|
|
|
NM_019109.5(ALG1):c.11C>T (p.Ser4Leu)
|
|
|
NM_019109.5(ALG1):c.1200G>T (p.Leu400=)
|
|
|
NM_019109.5(ALG1):c.1203G>A (p.Val401=)
|
|
|
NM_019109.5(ALG1):c.1208A>C (p.His403Pro)
|
|
|
NM_019109.5(ALG1):c.120G>C (p.Leu40=)
|
|
|
NM_019109.5(ALG1):c.1210GAA[1] (p.Glu405del)
|
|
|
NM_019109.5(ALG1):c.1227C>G (p.Val409=)
|
|
|
NM_019109.5(ALG1):c.1236C>T (p.Asp412=)
|
|
|
NM_019109.5(ALG1):c.123C>G (p.Gly41=)
|
|
|
NM_019109.5(ALG1):c.123C>T (p.Gly41=)
|
|
|
NM_019109.5(ALG1):c.1250C>G (p.Ala417Gly)
|
|
|
NM_019109.5(ALG1):c.1252G>T (p.Ala418Ser)
|
|
|
NM_019109.5(ALG1):c.1255C>T (p.Gln419Ter)
|
|
|
NM_019109.5(ALG1):c.1257G>C (p.Gln419His)
|
rs2142728655
|
|
NM_019109.5(ALG1):c.1260G>A (p.Leu420=)
|
|
|
NM_019109.5(ALG1):c.1263+10T>G
|
|
|
NM_019109.5(ALG1):c.1263+13G>C
|
|
|
NM_019109.5(ALG1):c.1263+14C>T
|
|
|
NM_019109.5(ALG1):c.1263+17C>T
|
rs1567172251
|
|
NM_019109.5(ALG1):c.1263+2T>C
|
|
|
NM_019109.5(ALG1):c.1263+8C>A
|
|
|
NM_019109.5(ALG1):c.1263+9G>A
|
|
|
NM_019109.5(ALG1):c.1263G>A (p.Gln421=)
|
|
|
NM_019109.5(ALG1):c.1272C>T (p.Phe424=)
|
|
|
NM_019109.5(ALG1):c.1280T>G (p.Phe427Cys)
|
rs1957090242
|
|
NM_019109.5(ALG1):c.1287_1288delinsAA (p.Asp429_Pro430delinsGluThr)
|
rs2142732373
|
|
NM_019109.5(ALG1):c.1292C>T (p.Ala431Val)
|
rs370439294
|
|
NM_019109.5(ALG1):c.12A>G (p.Ser4=)
|
|
|
NM_019109.5(ALG1):c.12A>T (p.Ser4=)
|
|
|
NM_019109.5(ALG1):c.1302A>T (p.Leu434=)
|
|
|
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter)
|
rs1261895166
|
|
NM_019109.5(ALG1):c.1314G>C (p.Arg438=)
|
|
|
NM_019109.5(ALG1):c.1317G>A (p.Lys439=)
|
|
|
NM_019109.5(ALG1):c.131G>T (p.Gly44Val)
|
|
|
NM_019109.5(ALG1):c.1324C>A (p.Arg442=)
|
|
|
NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln)
|
rs758197753
|
|
NM_019109.5(ALG1):c.1326G>A (p.Arg442=)
|
|
|
NM_019109.5(ALG1):c.1327G>A (p.Glu443Lys)
|
rs540792178
|
|
NM_019109.5(ALG1):c.1329G>A (p.Glu443=)
|
|
|
NM_019109.5(ALG1):c.132C>T (p.Gly44=)
|
|
|
NM_019109.5(ALG1):c.1332G>A (p.Ser444=)
|
rs554183734
|
|
NM_019109.5(ALG1):c.1335G>A (p.Gln445=)
|
|
|
NM_019109.5(ALG1):c.1341C>G (p.Leu447=)
|
|
|
NM_019109.5(ALG1):c.1342C>T (p.Arg448Ter)
|
rs1047747
|
|
NM_019109.5(ALG1):c.1343G>A (p.Arg448Gln)
|
|
|
NM_019109.5(ALG1):c.1344A>G (p.Arg448=)
|
|
|
NM_019109.5(ALG1):c.1345T>C (p.Trp449Arg)
|
rs144047909
|
|
NM_019109.5(ALG1):c.1349A>G (p.Asp450Gly)
|
|
|
NM_019109.5(ALG1):c.1358G>T (p.Trp453Leu)
|
|
|
NM_019109.5(ALG1):c.1365G>A (p.Gln455=)
|
|
|
NM_019109.5(ALG1):c.1365G>C (p.Gln455His)
|
|
|
NM_019109.5(ALG1):c.1368T>A (p.Thr456=)
|
rs1455567093
|
|
NM_019109.5(ALG1):c.1369G>A (p.Val457Met)
|
|
|
NM_019109.5(ALG1):c.1376C>T (p.Pro459Leu)
|
|
|
NM_019109.5(ALG1):c.1385T>C (p.Met462Thr)
|
rs1957097146
|
|
NM_019109.5(ALG1):c.1392A>G (p.Thr464=)
|
|
|
NM_019109.5(ALG1):c.13T>C (p.Cys5Arg)
|
rs752179113
|
|
NM_019109.5(ALG1):c.13T>G (p.Cys5Gly)
|
|
|
NM_019109.5(ALG1):c.156C>T (p.His52=)
|
|
|
NM_019109.5(ALG1):c.15C>A (p.Cys5Ter)
|
rs752922461
|
|
NM_019109.5(ALG1):c.15C>T (p.Cys5=)
|
|
|
NM_019109.5(ALG1):c.160C>G (p.Leu54Val)
|
rs1956824877
|
|
NM_019109.5(ALG1):c.160C>T (p.Leu54=)
|
|
|
NM_019109.5(ALG1):c.162G>T (p.Leu54=)
|
rs2142698659
|
|
NM_019109.5(ALG1):c.164dup (p.Leu56fs)
|
|
|
NM_019109.5(ALG1):c.165G>C (p.Ser55=)
|
rs2142698676
|
|
NM_019109.5(ALG1):c.169G>A (p.Ala57Thr)
|
|
|
NM_019109.5(ALG1):c.169G>T (p.Ala57Ser)
|
|
|
NM_019109.5(ALG1):c.16T>C (p.Leu6=)
|
|
|
NM_019109.5(ALG1):c.173T>C (p.Met58Thr)
|
|
|
NM_019109.5(ALG1):c.176A>C (p.His59Pro)
|
rs773372110
|
|
NM_019109.5(ALG1):c.176A>G (p.His59Arg)
|
rs773372110
|
|
NM_019109.5(ALG1):c.177C>T (p.His59=)
|
|
|
NM_019109.5(ALG1):c.183C>T (p.Phe61=)
|
|
|
NM_019109.5(ALG1):c.185C>A (p.Ser62Ter)
|
|
|
NM_019109.5(ALG1):c.189G>A (p.Val63=)
|
rs2142698777
|
|
NM_019109.5(ALG1):c.18G>T (p.Leu6Phe)
|
rs758274229
|
|
NM_019109.5(ALG1):c.191C>T (p.Thr64Ile)
|
rs145474820
|
|
NM_019109.5(ALG1):c.193C>T (p.Leu65Phe)
|
|
|
NM_019109.5(ALG1):c.19G>C (p.Val7Leu)
|
|
|
NM_019109.5(ALG1):c.200G>T (p.Gly67Val)
|
rs778626972
|
|
NM_019109.5(ALG1):c.201G>C (p.Gly67=)
|
|
|
NM_019109.5(ALG1):c.204C>T (p.Phe68=)
|
rs545347166
|
|
NM_019109.5(ALG1):c.208+135dup
|
rs34061670
|
|
NM_019109.5(ALG1):c.208+13G>C
|
|
|
NM_019109.5(ALG1):c.208+14G>A
|
|
|
NM_019109.5(ALG1):c.208+16_208+19dup
|
rs35400794
|
|
NM_019109.5(ALG1):c.208+17_208+18insCGTC
|
|
|
NM_019109.5(ALG1):c.208+18_208+19insATCT
|
|
|
NM_019109.5(ALG1):c.208+18_208+19insTTCT
|
|
|
NM_019109.5(ALG1):c.208+19G>A
|
|
|
NM_019109.5(ALG1):c.208+19_208+20insTATG
|
rs756830715
|
|
NM_019109.5(ALG1):c.208+19_208+20insTTTG
|
|
|
NM_019109.5(ALG1):c.208+1G>A
|
|
|
NM_019109.5(ALG1):c.208+1G>C
|
rs1313166263
|
|
NM_019109.5(ALG1):c.209-10C>T
|
rs749446443
|
|
NM_019109.5(ALG1):c.209-14T>A
|
rs769870335
|
|
NM_019109.5(ALG1):c.209-15A>G
|
|
|
NM_019109.5(ALG1):c.209-16C>T
|
|
|
NM_019109.5(ALG1):c.209-18A>C
|
rs536671036
|
|
NM_019109.5(ALG1):c.209-20G>A
|
|
|
NM_019109.5(ALG1):c.209-2A>G
|
rs774618681
|
|
NM_019109.5(ALG1):c.209-4T>A
|
|
|
NM_019109.5(ALG1):c.209-4del
|
|
|
NM_019109.5(ALG1):c.210C>T (p.Asn70=)
|
rs1376984579
|
|
NM_019109.5(ALG1):c.212C>G (p.Ser71Cys)
|
|
|
NM_019109.5(ALG1):c.213C>G (p.Ser71=)
|
|
|
NM_019109.5(ALG1):c.21C>G (p.Val7=)
|
|
|
NM_019109.5(ALG1):c.225T>A (p.Asp75Glu)
|
rs1205327334
|
|
NM_019109.5(ALG1):c.228G>A (p.Glu76=)
|
|
|
NM_019109.5(ALG1):c.231C>G (p.Leu77=)
|
|
|
NM_019109.5(ALG1):c.235C>T (p.Gln79Ter)
|
|
|
NM_019109.5(ALG1):c.238A>C (p.Asn80His)
|
|
|
NM_019109.5(ALG1):c.238A>G (p.Asn80Asp)
|
rs755346143
|
|
NM_019109.5(ALG1):c.240C>G (p.Asn80Lys)
|
|
|
NM_019109.5(ALG1):c.244A>C (p.Arg82=)
|
|
|
NM_019109.5(ALG1):c.254T>C (p.Ile85Thr)
|
|
|
NM_019109.5(ALG1):c.258G>C (p.Val86=)
|
|
|
NM_019109.5(ALG1):c.25C>G (p.Leu9Val)
|
|
|
NM_019109.5(ALG1):c.25C>T (p.Leu9=)
|
rs771370322
|
|
NM_019109.5(ALG1):c.261G>A (p.Gly87=)
|
|
|
NM_019109.5(ALG1):c.267A>C (p.Thr89=)
|
rs768454735
|
|
NM_019109.5(ALG1):c.267A>G (p.Thr89=)
|
|
|
NM_019109.5(ALG1):c.267A>T (p.Thr89=)
|
rs768454735
|
|
NM_019109.5(ALG1):c.27G>A (p.Leu9=)
|
|
|
NM_019109.5(ALG1):c.27G>C (p.Leu9=)
|
|
|
NM_019109.5(ALG1):c.27G>T (p.Leu9=)
|
|
|
NM_019109.5(ALG1):c.283G>A (p.Ala95Thr)
|
|
|
NM_019109.5(ALG1):c.286+10C>G
|
|
|
NM_019109.5(ALG1):c.286+11G>A
|
rs1475023645
|
|
NM_019109.5(ALG1):c.286+15A>G
|
|
|
NM_019109.5(ALG1):c.286+16C>A
|
|
|
NM_019109.5(ALG1):c.286+16C>T
|
|
|
NM_019109.5(ALG1):c.286+20A>G
|
|
|
NM_019109.5(ALG1):c.286+8G>A
|
rs375987369
|
|
NM_019109.5(ALG1):c.286+8G>T
|
|
|
NM_019109.5(ALG1):c.287-10T>C
|
|
|
NM_019109.5(ALG1):c.287-12T>C
|
|
|
NM_019109.5(ALG1):c.287-12_289del
|
rs2142701800
|
|
NM_019109.5(ALG1):c.287-18G>A
|
rs1567166306
|
|
NM_019109.5(ALG1):c.287-19G>A
|
|
|
NM_019109.5(ALG1):c.287-7C>G
|
|
|
NM_019109.5(ALG1):c.287-9G>T
|
|
|
NM_019109.5(ALG1):c.287T>A (p.Val96Asp)
|
rs534863399
|
|
NM_019109.5(ALG1):c.287T>G (p.Val96Gly)
|
rs534863399
|
|
NM_019109.5(ALG1):c.288T>C (p.Val96=)
|
|
|
NM_019109.5(ALG1):c.28_45dup (p.Leu15_Pro16insAlaLeuCysLeuLeuLeu)
|
|
|
NM_019109.5(ALG1):c.292C>G (p.Pro98Ala)
|
rs1252818613
|
|
NM_019109.5(ALG1):c.292C>T (p.Pro98Ser)
|
|
|
NM_019109.5(ALG1):c.293C>T (p.Pro98Leu)
|
rs1596252105
|
|
NM_019109.5(ALG1):c.29C>A (p.Ala10Glu)
|
rs767455250
|
|
NM_019109.5(ALG1):c.301_302dup (p.Gln102fs)
|
|
|
NM_019109.5(ALG1):c.309C>G (p.Tyr103Ter)
|
rs199553558
|
|
NM_019109.5(ALG1):c.30G>A (p.Ala10=)
|
|
|
NM_019109.5(ALG1):c.30G>C (p.Ala10=)
|
|
|
NM_019109.5(ALG1):c.30G>T (p.Ala10=)
|
|
|
NM_019109.5(ALG1):c.310G>A (p.Gly104Arg)
|
rs992880561
|
|
NM_019109.5(ALG1):c.312A>C (p.Gly104=)
|
|
|
NM_019109.5(ALG1):c.317A>C (p.Lys106Thr)
|
|
|
NM_019109.5(ALG1):c.318dup (p.Val107fs)
|
|
|
NM_019109.5(ALG1):c.31C>T (p.Leu11=)
|
|
|
NM_019109.5(ALG1):c.324A>G (p.Val108=)
|
|
|
NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter)
|
rs776990436
|
|
NM_019109.5(ALG1):c.33G>T (p.Leu11=)
|
|
|
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup)
|
rs1436106795
|
|
NM_019109.5(ALG1):c.363G>A (p.Arg121=)
|
|
|
NM_019109.5(ALG1):c.366G>A (p.Glu122=)
|
|
|
NM_019109.5(ALG1):c.368C>G (p.Pro123Arg)
|
|
|
NM_019109.5(ALG1):c.369A>G (p.Pro123=)
|
|
|
NM_019109.5(ALG1):c.372T>C (p.Gly124=)
|
|
|
NM_019109.5(ALG1):c.377A>T (p.Tyr126Phe)
|
rs200094659
|
|
NM_019109.5(ALG1):c.387C>G (p.Leu129=)
|
|
|
NM_019109.5(ALG1):c.390+11G>A
|
|
|
NM_019109.5(ALG1):c.390+11G>C
|
|
|
NM_019109.5(ALG1):c.390+13C>A
|
rs62036244
|
|
NM_019109.5(ALG1):c.390+13C>G
|
|
|
NM_019109.5(ALG1):c.390+13C>T
|
rs62036244
|
|
NM_019109.5(ALG1):c.390+15C>T
|
|
|
NM_019109.5(ALG1):c.390+17G>A
|
|
|
NM_019109.5(ALG1):c.390+18C>T
|
|
|
NM_019109.5(ALG1):c.390+3G>T
|
|
|
NM_019109.5(ALG1):c.390+5G>A
|
|
|
NM_019109.5(ALG1):c.390+6T>G
|
rs2142702237
|
|
NM_019109.5(ALG1):c.390+9C>T
|
|
|
NM_019109.5(ALG1):c.391-12T>C
|
|
|
NM_019109.5(ALG1):c.391-13C>T
|
|
|
NM_019109.5(ALG1):c.391-16T>C
|
|
|
NM_019109.5(ALG1):c.391-17G>C
|
|
|
NM_019109.5(ALG1):c.391-20C>T
|
|
|
NM_019109.5(ALG1):c.391-2A>G
|
|
|
NM_019109.5(ALG1):c.391-5C>T
|
|
|
NM_019109.5(ALG1):c.393C>T (p.Asn131=)
|
|
|
NM_019109.5(ALG1):c.396C>T (p.Pro132=)
|
|
|
NM_019109.5(ALG1):c.398_399insCA (p.Gly134fs)
|
rs1956891979
|
|
NM_019109.5(ALG1):c.399A>G (p.Pro133=)
|
rs200506666
|
|
NM_019109.5(ALG1):c.39G>A (p.Leu13=)
|
rs751409028
|
|
NM_019109.5(ALG1):c.39G>C (p.Leu13=)
|
rs751409028
|
|
NM_019109.5(ALG1):c.40C>T (p.Leu14=)
|
|
|
NM_019109.5(ALG1):c.40_41insAGCTGC (p.Leu13_Leu14insGlnLeu)
|
|
|
NM_019109.5(ALG1):c.415G>A (p.Ala139Thr)
|
|
|
NM_019109.5(ALG1):c.415G>T (p.Ala139Ser)
|
|
|
NM_019109.5(ALG1):c.42G>T (p.Leu14=)
|
|
|
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp)
|
rs387906926
|
|
NM_019109.5(ALG1):c.437G>C (p.Cys146Ser)
|
rs1956892771
|
|
NM_019109.5(ALG1):c.43C>T (p.Leu15=)
|
|
|
NM_019109.5(ALG1):c.440T>A (p.Leu147His)
|
|
|
NM_019109.5(ALG1):c.450C>A (p.Ser150Arg)
|
rs121908340
|
|
NM_019109.5(ALG1):c.456C>T (p.Leu152=)
|
rs764878109
|
|
NM_019109.5(ALG1):c.468G>C (p.Trp156Cys)
|
rs2142707214
|
|
NM_019109.5(ALG1):c.47_58dup (p.Pro16_Leu19dup)
|
rs1414667961
|
|
NM_019109.5(ALG1):c.486dup (p.Ile163fs)
|
|
|
NM_019109.5(ALG1):c.487A>T (p.Ile163Phe)
|
rs2142707280
|
|
NM_019109.5(ALG1):c.493G>C (p.Gly165Arg)
|
rs1192356042
|
|
NM_019109.5(ALG1):c.494G>C (p.Gly165Ala)
|
|
|
NM_019109.5(ALG1):c.494G>T (p.Gly165Val)
|
|
|
NM_019109.5(ALG1):c.496C>T (p.Leu166=)
|
|
|
NM_019109.5(ALG1):c.49C>T (p.Leu17=)
|
|
|
NM_019109.5(ALG1):c.49CTG[5] (p.Leu20dup)
|
rs760240522
|
|
NM_019109.5(ALG1):c.506G>A (p.Gly169Asp)
|
rs2142707365
|
|
NM_019109.5(ALG1):c.507C>T (p.Gly169=)
|
|
|
NM_019109.5(ALG1):c.512dup (p.Asn171fs)
|
|
|
NM_019109.5(ALG1):c.514C>A (p.His172Asn)
|
|
|
NM_019109.5(ALG1):c.514C>T (p.His172Tyr)
|
|
|
NM_019109.5(ALG1):c.523G>A (p.Val175Ile)
|
|
|
NM_019109.5(ALG1):c.523G>T (p.Val175Phe)
|
rs762783729
|
|
NM_019109.5(ALG1):c.525T>G (p.Val175=)
|
|
|
NM_019109.5(ALG1):c.529C>G (p.Leu177Val)
|
rs200194917
|
|
NM_019109.5(ALG1):c.531G>T (p.Leu177=)
|
|
|
NM_019109.5(ALG1):c.534C>T (p.Ala178=)
|
|
|
NM_019109.5(ALG1):c.539+10T>C
|
|
|
NM_019109.5(ALG1):c.539+19G>A
|
|
|
NM_019109.5(ALG1):c.539+1G>A
|
|
|
NM_019109.5(ALG1):c.539+20G>A
|
|
|
NM_019109.5(ALG1):c.539+7G>T
|
|
|
NM_019109.5(ALG1):c.539+9C>G
|
|
|
NM_019109.5(ALG1):c.539_539+1delinsTC
|
|
|
NM_019109.5(ALG1):c.53T>C (p.Leu18Pro)
|
|
|
NM_019109.5(ALG1):c.540-14A>T
|
rs750808125
|
|
NM_019109.5(ALG1):c.540-20C>G
|
|
|
NM_019109.5(ALG1):c.540-2A>T
|
|
|
NM_019109.5(ALG1):c.540-8C>T
|
rs2142712041
|
|
NM_019109.5(ALG1):c.543C>G (p.Tyr181Ter)
|
|
|
NM_019109.5(ALG1):c.54G>A (p.Leu18=)
|
|
|
NM_019109.5(ALG1):c.558G>T (p.Gly186=)
|
|
|
NM_019109.5(ALG1):c.559C>T (p.Arg187Cys)
|
|
|
NM_019109.5(ALG1):c.55C>T (p.Leu19=)
|
|
|
NM_019109.5(ALG1):c.562C>A (p.Leu188Met)
|
|
|
NM_019109.5(ALG1):c.562C>T (p.Leu188=)
|
rs2142712145
|
|
NM_019109.5(ALG1):c.564G>C (p.Leu188=)
|
|
|
NM_019109.5(ALG1):c.564G>T (p.Leu188=)
|
|
|
NM_019109.5(ALG1):c.567C>T (p.Ser189=)
|
|
|
NM_019109.5(ALG1):c.568C>A (p.His190Asn)
|
rs771904667
|
|
NM_019109.5(ALG1):c.577C>T (p.Leu193=)
|
|
|
NM_019109.5(ALG1):c.580T>C (p.Cys194Arg)
|
|
|
NM_019109.5(ALG1):c.583G>T (p.Val195Phe)
|
rs2142712225
|
|
NM_019109.5(ALG1):c.588C>G (p.Thr196=)
|
|
|
NM_019109.5(ALG1):c.590A>C (p.Asn197Thr)
|
|
|
NM_019109.5(ALG1):c.591T>A (p.Asn197Lys)
|
rs1956934637
|
|
NM_019109.5(ALG1):c.593C>G (p.Ala198Gly)
|
|
|
NM_019109.5(ALG1):c.602A>C (p.Glu201Ala)
|
|
|
NM_019109.5(ALG1):c.604G>T (p.Asp202Tyr)
|
rs1239003111
|
|
NM_019109.5(ALG1):c.609G>C (p.Leu203=)
|
|
|
NM_019109.5(ALG1):c.612G>A (p.Ala204=)
|
|
|
NM_019109.5(ALG1):c.61G>T (p.Gly21Ter)
|
|
|
NM_019109.5(ALG1):c.624C>T (p.His208=)
|
|
|
NM_019109.5(ALG1):c.629+11C>G
|
|
|
NM_019109.5(ALG1):c.629+13G>A
|
|
|
NM_019109.5(ALG1):c.629+16A>G
|
|
|
NM_019109.5(ALG1):c.629+17T>C
|
|
|
NM_019109.5(ALG1):c.629+17_629+32dup
|
|
|
NM_019109.5(ALG1):c.629+19A>G
|
|
|
NM_019109.5(ALG1):c.629+20_629+34del
|
|
|
NM_019109.5(ALG1):c.629+7T>C
|
|
|
NM_019109.5(ALG1):c.629+9G>T
|
|
|
NM_019109.5(ALG1):c.630-13G>A
|
rs559171127
|
|
NM_019109.5(ALG1):c.630-13G>C
|
rs559171127
|
|
NM_019109.5(ALG1):c.630-16C>T
|
|
|
NM_019109.5(ALG1):c.630-18G>A
|
rs545873278
|
|
NM_019109.5(ALG1):c.630-18G>T
|
|
|
NM_019109.5(ALG1):c.630-19C>A
|
|
|
NM_019109.5(ALG1):c.630-19C>T
|
rs371014838
|
|
NM_019109.5(ALG1):c.630-20C>T
|
|
|
NM_019109.5(ALG1):c.630-2A>G
|
|
|
NM_019109.5(ALG1):c.630-5T>C
|
|
|
NM_019109.5(ALG1):c.630-7A>G
|
|
|
NM_019109.5(ALG1):c.639C>A (p.Thr213=)
|
|
|
NM_019109.5(ALG1):c.645C>G (p.Tyr215Ter)
|
|
|
NM_019109.5(ALG1):c.645C>T (p.Tyr215=)
|
|
|
NM_019109.5(ALG1):c.654C>A (p.Pro218=)
|
|
|
NM_019109.5(ALG1):c.654C>G (p.Pro218=)
|
|
|
NM_019109.5(ALG1):c.657A>T (p.Ala219=)
|
|
|
NM_019109.5(ALG1):c.672G>A (p.Glu224=)
|
|
|
NM_019109.5(ALG1):c.677C>G (p.Pro226Arg)
|
|
|
NM_019109.5(ALG1):c.679C>G (p.Leu227Val)
|
|
|
NM_019109.5(ALG1):c.684C>T (p.Asp228=)
|
|
|
NM_019109.5(ALG1):c.687G>A (p.Leu229=)
|
|
|
NM_019109.5(ALG1):c.696G>T (p.Arg232=)
|
|
|
NM_019109.5(ALG1):c.699C>G (p.Leu233=)
|
|
|
NM_019109.5(ALG1):c.6G>T (p.Ala2=)
|
rs1340289136
|
|
NM_019109.5(ALG1):c.702C>T (p.Phe234=)
|
|
|
NM_019109.5(ALG1):c.710del (p.Leu237fs)
|
|
|
NM_019109.5(ALG1):c.711_726del (p.Gly238fs)
|
rs756236917
|
|
NM_019109.5(ALG1):c.717C>T (p.Ser239=)
|
rs1956945310
|
|
NM_019109.5(ALG1):c.729G>A (p.Pro243=)
|
|
|
NM_019109.5(ALG1):c.739del (p.Arg247fs)
|
|
|
NM_019109.5(ALG1):c.73C>T (p.Arg25Cys)
|
rs1956823060
|
|
NM_019109.5(ALG1):c.740+10C>T
|
|
|
NM_019109.5(ALG1):c.740+16T>A
|
|
|
NM_019109.5(ALG1):c.740+1G>A
|
|
|
NM_019109.5(ALG1):c.740+20C>T
|
|
|
NM_019109.5(ALG1):c.740+6C>T
|
|
|
NM_019109.5(ALG1):c.740G>T (p.Arg247Leu)
|
|
|
NM_019109.5(ALG1):c.740_740+5delinsTGTAGA
|
|
|
NM_019109.5(ALG1):c.741-12C>G
|
|
|
NM_019109.5(ALG1):c.741-12dup
|
|
|
NM_019109.5(ALG1):c.741-13del
|
rs749328532
|
|
NM_019109.5(ALG1):c.741-13dup
|
|
|
NM_019109.5(ALG1):c.741-15T>C
|
|
|
NM_019109.5(ALG1):c.741-20C>T
|
|
|
NM_019109.5(ALG1):c.741-6C>T
|
|
|
NM_019109.5(ALG1):c.741-8T>C
|
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NM_019109.5(ALG1):c.741-9C>T
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NM_019109.5(ALG1):c.743C>G (p.Ser248Ter)
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NM_019109.5(ALG1):c.750T>G (p.Pro250=)
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NM_019109.5(ALG1):c.756C>G (p.Asp252Glu)
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NM_019109.5(ALG1):c.756C>T (p.Asp252=)
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rs776990267
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NM_019109.5(ALG1):c.762C>G (p.Val254=)
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NM_019109.5(ALG1):c.768G>A (p.Glu256=)
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NM_019109.5(ALG1):c.772_789dup (p.Ser258_Arg263dup)
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rs1331794136
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NM_019109.5(ALG1):c.774G>A (p.Ser258=)
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NM_019109.5(ALG1):c.783G>A (p.Thr261=)
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NM_019109.5(ALG1):c.786del (p.Glu262fs)
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NM_019109.5(ALG1):c.788G>A (p.Arg263Gln)
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rs1308969550
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NM_019109.5(ALG1):c.791_804del (p.Asp264fs)
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rs2142715856
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NM_019109.5(ALG1):c.792T>C (p.Asp264=)
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NM_019109.5(ALG1):c.801C>T (p.Ser267=)
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rs770104406
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NM_019109.5(ALG1):c.802G>T (p.Gly268Trp)
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NM_019109.5(ALG1):c.809_832del (p.Val270_Pro277del)
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rs1206167331
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NM_019109.5(ALG1):c.813G>A (p.Thr271=)
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NM_019109.5(ALG1):c.817C>G (p.Leu273Val)
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NM_019109.5(ALG1):c.819C>G (p.Leu273=)
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NM_019109.5(ALG1):c.819C>T (p.Leu273=)
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rs1292939104
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NM_019109.5(ALG1):c.823G>C (p.Glu275Gln)
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NM_019109.5(ALG1):c.828G>A (p.Arg276=)
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rs2142716095
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NM_019109.5(ALG1):c.832G>A (p.Ala278Thr)
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rs1364564952
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NM_019109.5(ALG1):c.834C>T (p.Ala278=)
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NM_019109.5(ALG1):c.835C>G (p.Leu279Val)
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rs1057520106
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NM_019109.5(ALG1):c.835C>T (p.Leu279=)
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NM_019109.5(ALG1):c.837G>C (p.Leu279=)
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NM_019109.5(ALG1):c.83G>C (p.Arg28Pro)
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NM_019109.5(ALG1):c.851C>T (p.Thr284Met)
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NM_019109.5(ALG1):c.852G>A (p.Thr284=)
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NM_019109.5(ALG1):c.862+12C>T
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NM_019109.5(ALG1):c.863-10C>T
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NM_019109.5(ALG1):c.863-11T>C
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NM_019109.5(ALG1):c.863-12C>G
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NM_019109.5(ALG1):c.863-15A>C
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rs371947976
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NM_019109.5(ALG1):c.863-15A>T
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NM_019109.5(ALG1):c.863-17C>A
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NM_019109.5(ALG1):c.863-17C>G
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NM_019109.5(ALG1):c.863-3T>A
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NM_019109.5(ALG1):c.863-3T>C
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rs1208866677
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NM_019109.5(ALG1):c.863-8T>C
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NM_019109.5(ALG1):c.872A>G (p.Asp291Gly)
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rs192564717
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NM_019109.5(ALG1):c.872A>T (p.Asp291Val)
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rs192564717
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NM_019109.5(ALG1):c.873C>G (p.Asp291Glu)
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NM_019109.5(ALG1):c.875del (p.Phe292fs)
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NM_019109.5(ALG1):c.876C>G (p.Phe292Leu)
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rs1009298200
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NM_019109.5(ALG1):c.877T>C (p.Ser293Pro)
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rs1555452127
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NM_019109.5(ALG1):c.877_879del (p.Ser293del)
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rs776453756
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NM_019109.5(ALG1):c.878C>G (p.Ser293Cys)
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rs1421613066
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NM_019109.5(ALG1):c.879C>T (p.Ser293=)
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NM_019109.5(ALG1):c.87G>T (p.Gly29=)
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rs754060914
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NM_019109.5(ALG1):c.87_91del (p.Arg30fs)
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NM_019109.5(ALG1):c.883C>T (p.Leu295=)
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NM_019109.5(ALG1):c.885G>C (p.Leu295=)
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NM_019109.5(ALG1):c.885G>T (p.Leu295=)
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NM_019109.5(ALG1):c.889G>T (p.Ala297Ser)
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rs2142716887
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NM_019109.5(ALG1):c.88C>A (p.Arg30=)
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NM_019109.5(ALG1):c.898G>T (p.Glu300Ter)
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NM_019109.5(ALG1):c.901+13C>T
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NM_019109.5(ALG1):c.901+16C>T
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NM_019109.5(ALG1):c.901+17G>A
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NM_019109.5(ALG1):c.901+18G>C
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NM_019109.5(ALG1):c.901+18G>T
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NM_019109.5(ALG1):c.901+20G>T
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NM_019109.5(ALG1):c.901+5G>T
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NM_019109.5(ALG1):c.901A>C (p.Lys301Gln)
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rs753600353
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NM_019109.5(ALG1):c.901A>G (p.Lys301Glu)
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rs753600353
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NM_019109.5(ALG1):c.902-10C>G
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NM_019109.5(ALG1):c.902-16C>G
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NM_019109.5(ALG1):c.902-17T>C
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NM_019109.5(ALG1):c.902-20G>C
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NM_019109.5(ALG1):c.902-5C>T
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rs1956983341
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NM_019109.5(ALG1):c.902-8A>G
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NM_019109.5(ALG1):c.912A>G (p.Gln304=)
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NM_019109.5(ALG1):c.91del (p.Ala31fs)
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NM_019109.5(ALG1):c.920_921del (p.Leu307fs)
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NM_019109.5(ALG1):c.921T>C (p.Leu307=)
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NM_019109.5(ALG1):c.921T>G (p.Leu307=)
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NM_019109.5(ALG1):c.927A>G (p.Gly309=)
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NM_019109.5(ALG1):c.930C>T (p.His310=)
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NM_019109.5(ALG1):c.931A>G (p.Asn311Asp)
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NM_019109.5(ALG1):c.946G>A (p.Val316Ile)
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rs150272167
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NM_019109.5(ALG1):c.946G>C (p.Val316Leu)
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NM_019109.5(ALG1):c.950G>C (p.Cys317Ser)
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rs373396169
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NM_019109.5(ALG1):c.950G>T (p.Cys317Phe)
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NM_019109.5(ALG1):c.951T>C (p.Cys317=)
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NM_019109.5(ALG1):c.954G>A (p.Val318=)
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rs1291495506
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NM_019109.5(ALG1):c.954G>C (p.Val318=)
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NM_019109.5(ALG1):c.95C>A (p.Ala32Asp)
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rs376723766
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NM_019109.5(ALG1):c.961+14C>A
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NM_019109.5(ALG1):c.961+16C>G
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NM_019109.5(ALG1):c.961+19G>T
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NM_019109.5(ALG1):c.961+1G>A
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NM_019109.5(ALG1):c.961+1G>C
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rs373355236
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NM_019109.5(ALG1):c.961+20G>A
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NM_019109.5(ALG1):c.961+4C>G
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rs2142718757
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NM_019109.5(ALG1):c.961+8C>G
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rs371353008
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NM_019109.5(ALG1):c.961+8C>T
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rs371353008
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NM_019109.5(ALG1):c.961+9T>C
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NM_019109.5(ALG1):c.962-12T>C
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NM_019109.5(ALG1):c.962-18C>T
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NM_019109.5(ALG1):c.964A>C (p.Lys322Gln)
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NM_019109.5(ALG1):c.965A>T (p.Lys322Ile)
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rs145851409
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NM_019109.5(ALG1):c.969G>A (p.Gly323=)
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NM_019109.5(ALG1):c.969G>T (p.Gly323=)
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NM_019109.5(ALG1):c.969del (p.Pro324fs)
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NM_019109.5(ALG1):c.96C>A (p.Ala32=)
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NM_019109.5(ALG1):c.96C>G (p.Ala32=)
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NM_019109.5(ALG1):c.970C>G (p.Pro324Ala)
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NM_019109.5(ALG1):c.975G>C (p.Leu325=)
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NM_019109.5(ALG1):c.977G>C (p.Arg326Thr)
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NM_019109.5(ALG1):c.979G>A (p.Glu327Lys)
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NM_019109.5(ALG1):c.97C>A (p.Arg33=)
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NM_019109.5(ALG1):c.97C>T (p.Arg33Trp)
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NM_019109.5(ALG1):c.981G>A (p.Glu327=)
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NM_019109.5(ALG1):c.987T>C (p.Tyr329=)
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NM_019109.5(ALG1):c.988A>G (p.Ser330Gly)
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rs764029645
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NM_019109.5(ALG1):c.994C>G (p.Leu332Val)
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rs1957007425
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NM_019109.5(ALG1):c.996C>T (p.Leu332=)
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NM_019109.5(ALG1):c.9C>T (p.Ala3=)
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NM_201400.4(EEF2KMT):c.*1074C>T
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rs1957081691
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NM_201400.4(EEF2KMT):c.*885G>A
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rs780078713
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NM_201400.4(EEF2KMT):c.*891A>T
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rs3187779
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NM_201400.4(EEF2KMT):c.*892A>C
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NM_201400.4(EEF2KMT):c.*893del
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rs1381360907
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NM_201400.4(EEF2KMT):c.*893dup
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NM_201400.4(EEF2KMT):c.*894T>A
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NM_201400.4(EEF2KMT):c.*898G>C
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NM_201400.4(EEF2KMT):c.*899A>T
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NM_201400.4(EEF2KMT):c.*899del
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NM_201400.4(EEF2KMT):c.*900G>C
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rs2142732074
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