NM_019109.5(ALG1):c.800G>A (p.Ser267Asn)
|
rs17849848
|
0.06910
|
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys)
|
rs112668461
|
0.01358
|
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.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.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_019109.5(ALG1):c.1089T>G (p.Gly363=)
|
rs146526768
|
0.00036
|
NM_019109.5(ALG1):c.694C>T (p.Arg232Trp)
|
rs148301670
|
0.00026
|
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.1281T>C (p.Phe427=)
|
rs538385814
|
0.00013
|
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.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.186G>T (p.Ser62=)
|
rs767351398
|
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.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.758C>A (p.Pro253Gln)
|
rs770327947
|
0.00005
|
NM_019109.5(ALG1):c.774G>C (p.Ser258=)
|
rs757068692
|
0.00005
|
NM_019109.5(ALG1):c.1077G>A (p.Ser359=)
|
rs564052127
|
0.00004
|
NM_019109.5(ALG1):c.1353G>A (p.Glu451=)
|
rs772562254
|
0.00004
|
NM_019109.5(ALG1):c.221A>T (p.His74Leu)
|
rs201337379
|
0.00004
|
NM_019109.5(ALG1):c.309C>T (p.Tyr103=)
|
rs199553558
|
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.741-13T>C
|
rs368398266
|
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.539+15A>G
|
rs777450873
|
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.961+19G>A
|
rs768688738
|
0.00003
|
NM_019109.4(ALG1):c.196C>T (p.Leu66=)
|
rs753405851
|
0.00002
|
NM_019109.5(ALG1):c.135C>T (p.Arg45=)
|
rs779092735
|
0.00002
|
NM_019109.5(ALG1):c.208+14_208+17dup
|
rs746780708
|
0.00002
|
NM_019109.5(ALG1):c.579G>A (p.Leu193=)
|
rs750145784
|
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.1072+14A>G
|
rs1320606156
|
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.1104G>A (p.Thr368=)
|
rs1315375927
|
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.1374C>T (p.Leu458=)
|
rs776869363
|
0.00001
|
NM_019109.5(ALG1):c.138C>T (p.Ser46=)
|
rs148665912
|
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.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.342G>A (p.Leu114=)
|
rs1596252196
|
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.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.630-10T>A
|
rs774092984
|
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.75C>G (p.Arg25=)
|
rs369610043
|
0.00001
|
NM_019109.5(ALG1):c.765G>A (p.Thr255=)
|
rs763065965
|
0.00001
|
NM_019109.5(ALG1):c.863-14T>C
|
rs780024263
|
0.00001
|
NM_019109.5(ALG1):c.886C>T (p.Leu296=)
|
rs760271727
|
0.00001
|
NM_019109.5(ALG1):c.902-12T>A
|
rs781282806
|
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_019109.5(ALG1):c.102T>C (p.His34=)
|
|
|
NM_019109.5(ALG1):c.1038C>T (p.Pro346=)
|
|
|
NM_019109.5(ALG1):c.1042C>T (p.Leu348=)
|
rs2142722071
|
|
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.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+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.1080G>C (p.Ala360=)
|
|
|
NM_019109.5(ALG1):c.1080G>T (p.Ala360=)
|
rs143939207
|
|
NM_019109.5(ALG1):c.1086G>C (p.Leu362=)
|
|
|
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.1140G>A (p.Val380=)
|
rs2142725780
|
|
NM_019109.5(ALG1):c.1143C>T (p.Asp381=)
|
rs753000258
|
|
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.1188-8C>G
|
|
|
NM_019109.5(ALG1):c.1188-8C>T
|
|
|
NM_019109.5(ALG1):c.1200G>T (p.Leu400=)
|
|
|
NM_019109.5(ALG1):c.1203G>A (p.Val401=)
|
|
|
NM_019109.5(ALG1):c.120G>C (p.Leu40=)
|
|
|
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.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+8C>A
|
|
|
NM_019109.5(ALG1):c.1263+9G>A
|
|
|
NM_019109.5(ALG1):c.1272C>T (p.Phe424=)
|
|
|
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.1314G>C (p.Arg438=)
|
|
|
NM_019109.5(ALG1):c.1317G>A (p.Lys439=)
|
|
|
NM_019109.5(ALG1):c.1324C>A (p.Arg442=)
|
|
|
NM_019109.5(ALG1):c.1326G>A (p.Arg442=)
|
|
|
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.1344A>G (p.Arg448=)
|
|
|
NM_019109.5(ALG1):c.1365G>A (p.Gln455=)
|
|
|
NM_019109.5(ALG1):c.1368T>A (p.Thr456=)
|
rs1455567093
|
|
NM_019109.5(ALG1):c.1392A>G (p.Thr464=)
|
|
|
NM_019109.5(ALG1):c.156C>T (p.His52=)
|
|
|
NM_019109.5(ALG1):c.15C>T (p.Cys5=)
|
|
|
NM_019109.5(ALG1):c.160C>T (p.Leu54=)
|
|
|
NM_019109.5(ALG1):c.162G>T (p.Leu54=)
|
rs2142698659
|
|
NM_019109.5(ALG1):c.165G>C (p.Ser55=)
|
rs2142698676
|
|
NM_019109.5(ALG1):c.16T>C (p.Leu6=)
|
|
|
NM_019109.5(ALG1):c.177C>T (p.His59=)
|
|
|
NM_019109.5(ALG1):c.183C>T (p.Phe61=)
|
|
|
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.201G>C (p.Gly67=)
|
|
|
NM_019109.5(ALG1):c.204C>T (p.Phe68=)
|
rs545347166
|
|
NM_019109.5(ALG1):c.208+13G>C
|
|
|
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+20insTTTG
|
|
|
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.209-4T>A
|
|
|
NM_019109.5(ALG1):c.210C>T (p.Asn70=)
|
rs1376984579
|
|
NM_019109.5(ALG1):c.213C>G (p.Ser71=)
|
|
|
NM_019109.5(ALG1):c.21C>G (p.Val7=)
|
|
|
NM_019109.5(ALG1):c.228G>A (p.Glu76=)
|
|
|
NM_019109.5(ALG1):c.231C>G (p.Leu77=)
|
|
|
NM_019109.5(ALG1):c.244A>C (p.Arg82=)
|
|
|
NM_019109.5(ALG1):c.258G>C (p.Val86=)
|
|
|
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.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.287-18G>A
|
rs1567166306
|
|
NM_019109.5(ALG1):c.287-19G>A
|
|
|
NM_019109.5(ALG1):c.287-9G>T
|
|
|
NM_019109.5(ALG1):c.288T>C (p.Val96=)
|
|
|
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.312A>C (p.Gly104=)
|
|
|
NM_019109.5(ALG1):c.31C>T (p.Leu11=)
|
|
|
NM_019109.5(ALG1):c.324A>G (p.Val108=)
|
|
|
NM_019109.5(ALG1):c.33G>T (p.Leu11=)
|
|
|
NM_019109.5(ALG1):c.363G>A (p.Arg121=)
|
|
|
NM_019109.5(ALG1):c.366G>A (p.Glu122=)
|
|
|
NM_019109.5(ALG1):c.369A>G (p.Pro123=)
|
|
|
NM_019109.5(ALG1):c.372T>C (p.Gly124=)
|
|
|
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
|
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|
NM_019109.5(ALG1):c.390+13C>G
|
|
|
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+9C>T
|
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|
NM_019109.5(ALG1):c.391-12T>C
|
|
|
NM_019109.5(ALG1):c.391-13C>T
|
|
|
NM_019109.5(ALG1):c.391-16T>C
|
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|
NM_019109.5(ALG1):c.391-17G>C
|
|
|
NM_019109.5(ALG1):c.391-20C>T
|
|
|
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.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.42G>T (p.Leu14=)
|
|
|
NM_019109.5(ALG1):c.43C>T (p.Leu15=)
|
|
|
NM_019109.5(ALG1):c.456C>T (p.Leu152=)
|
rs764878109
|
|
NM_019109.5(ALG1):c.496C>T (p.Leu166=)
|
|
|
NM_019109.5(ALG1):c.49C>T (p.Leu17=)
|
|
|
NM_019109.5(ALG1):c.507C>T (p.Gly169=)
|
|
|
NM_019109.5(ALG1):c.525T>G (p.Val175=)
|
|
|
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+20G>A
|
|
|
NM_019109.5(ALG1):c.539+7G>T
|
|
|
NM_019109.5(ALG1):c.540-14A>T
|
rs750808125
|
|
NM_019109.5(ALG1):c.540-20C>G
|
|
|
NM_019109.5(ALG1):c.540-8C>T
|
rs2142712041
|
|
NM_019109.5(ALG1):c.54G>A (p.Leu18=)
|
|
|
NM_019109.5(ALG1):c.558G>T (p.Gly186=)
|
|
|
NM_019109.5(ALG1):c.55C>T (p.Leu19=)
|
|
|
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.577C>T (p.Leu193=)
|
|
|
NM_019109.5(ALG1):c.588C>G (p.Thr196=)
|
|
|
NM_019109.5(ALG1):c.609G>C (p.Leu203=)
|
|
|
NM_019109.5(ALG1):c.612G>A (p.Ala204=)
|
|
|
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.630-5T>C
|
|
|
NM_019109.5(ALG1):c.630-7A>G
|
|
|
NM_019109.5(ALG1):c.639C>A (p.Thr213=)
|
|
|
NM_019109.5(ALG1):c.645C>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.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.729G>A (p.Pro243=)
|
|
|
NM_019109.5(ALG1):c.740+10C>T
|
|
|
NM_019109.5(ALG1):c.740+16T>A
|
|
|
NM_019109.5(ALG1):c.740+20C>T
|
|
|
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.741-15T>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
|
|
|
NM_019109.5(ALG1):c.741-9C>T
|
|
|
NM_019109.5(ALG1):c.750T>G (p.Pro250=)
|
|
|
NM_019109.5(ALG1):c.756C>T (p.Asp252=)
|
rs776990267
|
|
NM_019109.5(ALG1):c.762C>G (p.Val254=)
|
|
|
NM_019109.5(ALG1):c.768G>A (p.Glu256=)
|
|
|
NM_019109.5(ALG1):c.774G>A (p.Ser258=)
|
|
|
NM_019109.5(ALG1):c.783G>A (p.Thr261=)
|
|
|
NM_019109.5(ALG1):c.792T>C (p.Asp264=)
|
|
|
NM_019109.5(ALG1):c.801C>T (p.Ser267=)
|
rs770104406
|
|
NM_019109.5(ALG1):c.813G>A (p.Thr271=)
|
|
|
NM_019109.5(ALG1):c.819C>G (p.Leu273=)
|
|
|
NM_019109.5(ALG1):c.819C>T (p.Leu273=)
|
rs1292939104
|
|
NM_019109.5(ALG1):c.828G>A (p.Arg276=)
|
rs2142716095
|
|
NM_019109.5(ALG1):c.834C>T (p.Ala278=)
|
|
|
NM_019109.5(ALG1):c.835C>T (p.Leu279=)
|
|
|
NM_019109.5(ALG1):c.837G>C (p.Leu279=)
|
|
|
NM_019109.5(ALG1):c.852G>A (p.Thr284=)
|
|
|
NM_019109.5(ALG1):c.862+12C>T
|
|
|
NM_019109.5(ALG1):c.863-10C>T
|
|
|
NM_019109.5(ALG1):c.863-12C>G
|
|
|
NM_019109.5(ALG1):c.863-15A>C
|
rs371947976
|
|
NM_019109.5(ALG1):c.863-15A>T
|
|
|
NM_019109.5(ALG1):c.863-17C>A
|
|
|
NM_019109.5(ALG1):c.863-17C>G
|
|
|
NM_019109.5(ALG1):c.863-8T>C
|
|
|
NM_019109.5(ALG1):c.879C>T (p.Ser293=)
|
|
|
NM_019109.5(ALG1):c.87G>T (p.Gly29=)
|
rs754060914
|
|
NM_019109.5(ALG1):c.883C>T (p.Leu295=)
|
|
|
NM_019109.5(ALG1):c.885G>C (p.Leu295=)
|
|
|
NM_019109.5(ALG1):c.885G>T (p.Leu295=)
|
|
|
NM_019109.5(ALG1):c.88C>A (p.Arg30=)
|
|
|
NM_019109.5(ALG1):c.901+13C>T
|
|
|
NM_019109.5(ALG1):c.901+16C>T
|
|
|
NM_019109.5(ALG1):c.901+17G>A
|
|
|
NM_019109.5(ALG1):c.901+18G>C
|
|
|
NM_019109.5(ALG1):c.901+18G>T
|
|
|
NM_019109.5(ALG1):c.901+20G>T
|
|
|
NM_019109.5(ALG1):c.902-10C>G
|
|
|
NM_019109.5(ALG1):c.902-16C>G
|
|
|
NM_019109.5(ALG1):c.902-17T>C
|
|
|
NM_019109.5(ALG1):c.902-20G>C
|
|
|
NM_019109.5(ALG1):c.902-5C>T
|
rs1956983341
|
|
NM_019109.5(ALG1):c.902-8A>G
|
|
|
NM_019109.5(ALG1):c.912A>G (p.Gln304=)
|
|
|
NM_019109.5(ALG1):c.921T>C (p.Leu307=)
|
|
|
NM_019109.5(ALG1):c.921T>G (p.Leu307=)
|
|
|
NM_019109.5(ALG1):c.927A>G (p.Gly309=)
|
|
|
NM_019109.5(ALG1):c.930C>T (p.His310=)
|
|
|
NM_019109.5(ALG1):c.946G>A (p.Val316Ile)
|
rs150272167
|
|
NM_019109.5(ALG1):c.951T>C (p.Cys317=)
|
|
|
NM_019109.5(ALG1):c.954G>A (p.Val318=)
|
rs1291495506
|
|
NM_019109.5(ALG1):c.954G>C (p.Val318=)
|
|
|
NM_019109.5(ALG1):c.95C>A (p.Ala32Asp)
|
rs376723766
|
|
NM_019109.5(ALG1):c.961+14C>A
|
|
|
NM_019109.5(ALG1):c.961+16C>G
|
|
|
NM_019109.5(ALG1):c.961+19G>T
|
|
|
NM_019109.5(ALG1):c.961+20G>A
|
|
|
NM_019109.5(ALG1):c.961+8C>G
|
rs371353008
|
|
NM_019109.5(ALG1):c.961+8C>T
|
rs371353008
|
|
NM_019109.5(ALG1):c.961+9T>C
|
|
|
NM_019109.5(ALG1):c.962-12T>C
|
|
|
NM_019109.5(ALG1):c.962-18C>T
|
|
|
NM_019109.5(ALG1):c.969G>A (p.Gly323=)
|
|
|
NM_019109.5(ALG1):c.969G>T (p.Gly323=)
|
|
|
NM_019109.5(ALG1):c.96C>A (p.Ala32=)
|
|
|
NM_019109.5(ALG1):c.96C>G (p.Ala32=)
|
|
|
NM_019109.5(ALG1):c.975G>C (p.Leu325=)
|
|
|
NM_019109.5(ALG1):c.97C>A (p.Arg33=)
|
|
|
NM_019109.5(ALG1):c.981G>A (p.Glu327=)
|
|
|
NM_019109.5(ALG1):c.987T>C (p.Tyr329=)
|
|
|
NM_019109.5(ALG1):c.996C>T (p.Leu332=)
|
|
|
NM_019109.5(ALG1):c.9C>T (p.Ala3=)
|
|
|
NM_201400.4(EEF2KMT):c.*891A>T
|
rs3187779
|
|
NM_201400.4(EEF2KMT):c.*892A>C
|
|
|
NM_201400.4(EEF2KMT):c.*894T>A
|
|
|
NM_201400.4(EEF2KMT):c.*898G>C
|
|
|
NM_201400.4(EEF2KMT):c.*899A>T
|
|
|
NM_201400.4(EEF2KMT):c.*899del
|
|
|
NM_201400.4(EEF2KMT):c.*900G>C
|
rs2142732074
|
|