NM_013339.4(ALG6):c.911C>T (p.Ser304Phe)
|
rs4630153
|
0.75355
|
NM_013339.4(ALG6):c.*761T>C
|
rs3009572
|
0.60547
|
NM_013339.4(ALG6):c.494+74A>G
|
rs6588028
|
0.59605
|
NM_013339.4(ALG6):c.347-107A>G
|
rs1012872
|
0.35371
|
NM_013339.4(ALG6):c.-136C>G
|
rs34542411
|
0.20075
|
NM_013339.4(ALG6):c.430-133T>C
|
rs12755065
|
0.17545
|
NM_013339.4(ALG6):c.1058+111T>G
|
rs4550089
|
0.16438
|
NM_013339.4(ALG6):c.981T>C (p.Phe327=)
|
rs75451833
|
0.04164
|
NM_013339.4(ALG6):c.*1322A>G
|
rs75309742
|
0.04045
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
NM_013339.4(ALG6):c.*844T>C
|
rs2884922
|
0.02393
|
NM_013339.4(ALG6):c.726C>T (p.Phe242=)
|
rs59848367
|
0.02294
|
NM_013339.4(ALG6):c.678G>T (p.Lys226Asn)
|
rs35604168
|
0.01480
|
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val)
|
rs41285372
|
0.01295
|
NM_013339.4(ALG6):c.*268C>T
|
rs114111123
|
0.01221
|
NM_013339.4(ALG6):c.-121T>G
|
rs116034504
|
0.00994
|
NM_013339.4(ALG6):c.*1415T>G
|
rs148327539
|
0.00827
|
NM_013339.4(ALG6):c.*1434T>C
|
rs141443584
|
0.00822
|
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=)
|
rs116660078
|
0.00791
|
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala)
|
rs61755863
|
0.00705
|
NM_013339.4(ALG6):c.*1136C>T
|
rs143324400
|
0.00429
|
NM_013339.4(ALG6):c.*961C>T
|
rs144020923
|
0.00415
|
NM_013339.4(ALG6):c.-207-12T>C
|
rs183861757
|
0.00186
|
NM_013339.4(ALG6):c.1398A>T (p.Leu466=)
|
rs140158304
|
0.00167
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_013339.4(ALG6):c.*404T>C
|
rs138529811
|
0.00045
|
NM_013339.4(ALG6):c.1452C>T (p.Phe484=)
|
rs150298974
|
0.00044
|
NM_013339.4(ALG6):c.*47A>T
|
rs372767276
|
0.00026
|
NM_013339.4(ALG6):c.963T>A (p.Ser321=)
|
rs141511876
|
0.00024
|
NM_013339.4(ALG6):c.882T>C (p.Arg294=)
|
rs145894044
|
0.00020
|
NM_013339.4(ALG6):c.*1169G>A
|
rs536772187
|
0.00017
|
NM_013339.4(ALG6):c.903-13A>G
|
rs190744579
|
0.00013
|
NM_013339.4(ALG6):c.1361C>T (p.Thr454Met)
|
rs138890428
|
0.00012
|
NM_013339.4(ALG6):c.1032T>C (p.His344=)
|
rs146265933
|
0.00011
|
NM_013339.4(ALG6):c.370T>G (p.Tyr124Asp)
|
rs562509297
|
0.00011
|
NM_013339.4(ALG6):c.1442A>G (p.Asn481Ser)
|
rs139521934
|
0.00010
|
NM_013339.4(ALG6):c.*1004C>A
|
rs886046477
|
0.00008
|
NM_013339.4(ALG6):c.1300T>A (p.Phe434Ile)
|
rs200661626
|
0.00008
|
NM_013339.4(ALG6):c.420T>C (p.Thr140=)
|
rs150097046
|
0.00008
|
NM_013339.4(ALG6):c.915G>A (p.Thr305=)
|
rs112769742
|
0.00008
|
NM_013339.4(ALG6):c.96G>A (p.Pro32=)
|
rs149990175
|
0.00008
|
NM_013339.4(ALG6):c.*670G>A
|
rs367589530
|
0.00007
|
NM_013339.4(ALG6):c.1465T>G (p.Phe489Val)
|
rs145152115
|
0.00007
|
NM_013339.4(ALG6):c.257+15C>A
|
rs761827385
|
0.00007
|
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys)
|
rs201354339
|
0.00007
|
NM_013339.4(ALG6):c.527G>T (p.Trp176Leu)
|
rs773699560
|
0.00007
|
NM_013339.4(ALG6):c.-141A>G
|
rs1054104046
|
0.00006
|
NM_013339.4(ALG6):c.1002A>G (p.Leu334=)
|
rs377647534
|
0.00006
|
NM_013339.4(ALG6):c.1128-13T>A
|
rs773823994
|
0.00006
|
NM_013339.4(ALG6):c.1314T>C (p.Ile438=)
|
rs146939069
|
0.00006
|
NM_013339.4(ALG6):c.338G>A (p.Arg113His)
|
rs768372697
|
0.00006
|
NM_013339.4(ALG6):c.36A>C (p.Leu12Phe)
|
rs151277583
|
0.00006
|
NM_013339.4(ALG6):c.665G>A (p.Gly222Asp)
|
rs532466353
|
0.00006
|
NM_013339.4(ALG6):c.816+10A>T
|
rs529032571
|
0.00006
|
NM_013339.4(ALG6):c.*1313T>C
|
rs372013109
|
0.00005
|
NM_013339.4(ALG6):c.1159C>T (p.Leu387=)
|
rs754054503
|
0.00005
|
NM_013339.4(ALG6):c.246A>T (p.Leu82=)
|
rs112029121
|
0.00005
|
NM_013339.4(ALG6):c.555C>T (p.Cys185=)
|
rs144065966
|
0.00005
|
NM_013339.4(ALG6):c.708T>C (p.Cys236=)
|
rs374672230
|
0.00005
|
NM_013339.4(ALG6):c.-120C>T
|
rs1016079273
|
0.00004
|
NM_013339.4(ALG6):c.-128C>T
|
rs188685870
|
0.00004
|
NM_013339.4(ALG6):c.1120A>G (p.Thr374Ala)
|
rs368086400
|
0.00004
|
NM_013339.4(ALG6):c.1362G>A (p.Thr454=)
|
rs767257355
|
0.00004
|
NM_013339.4(ALG6):c.156G>A (p.Pro52=)
|
rs751004049
|
0.00004
|
NM_013339.4(ALG6):c.167+7T>C
|
rs374146302
|
0.00004
|
NM_013339.4(ALG6):c.1A>G (p.Met1Val)
|
rs562934427
|
0.00004
|
NM_013339.4(ALG6):c.258-16A>G
|
rs1289325321
|
0.00004
|
NM_013339.4(ALG6):c.357T>G (p.Ala119=)
|
rs776226631
|
0.00004
|
NM_013339.4(ALG6):c.618C>T (p.His206=)
|
rs374336458
|
0.00004
|
NM_013339.4(ALG6):c.916T>G (p.Phe306Val)
|
rs769417698
|
0.00004
|
NM_013339.4(ALG6):c.988-20C>T
|
rs377453006
|
0.00004
|
NM_013339.4(ALG6):c.999G>A (p.Ala333=)
|
rs375487839
|
0.00004
|
NM_013339.4(ALG6):c.*1137G>A
|
rs886046478
|
0.00003
|
NM_013339.4(ALG6):c.1059-9C>T
|
rs375216174
|
0.00003
|
NM_013339.4(ALG6):c.1249del (p.Gln417fs)
|
rs771069984
|
0.00003
|
NM_013339.4(ALG6):c.1308C>T (p.Ser436=)
|
rs1271255207
|
0.00003
|
NM_013339.4(ALG6):c.430-3C>T
|
rs549094888
|
0.00003
|
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)
|
rs755933716
|
0.00003
|
NM_013339.4(ALG6):c.669C>T (p.Leu223=)
|
rs377089305
|
0.00003
|
NM_013339.4(ALG6):c.881G>A (p.Arg294His)
|
rs772248256
|
0.00003
|
NM_013339.4(ALG6):c.902+1G>A
|
rs1036516188
|
0.00003
|
NM_013339.4(ALG6):c.942A>G (p.Ile314Met)
|
rs774489558
|
0.00003
|
NM_013339.4(ALG6):c.950T>C (p.Ile317Thr)
|
rs376087919
|
0.00003
|
NM_013339.4(ALG6):c.998C>T (p.Ala333Val)
|
rs121908443
|
0.00003
|
NM_013339.4(ALG6):c.1056A>G (p.Ser352=)
|
rs371100177
|
0.00002
|
NM_013339.4(ALG6):c.1200T>C (p.Ala400=)
|
rs780988843
|
0.00002
|
NM_013339.4(ALG6):c.1315A>G (p.Ile439Val)
|
rs1259683238
|
0.00002
|
NM_013339.4(ALG6):c.1326+20A>G
|
rs1382330745
|
0.00002
|
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)
|
rs774242915
|
0.00002
|
NM_013339.4(ALG6):c.168-17C>G
|
rs536808870
|
0.00002
|
NM_013339.4(ALG6):c.257+11C>G
|
rs774093513
|
0.00002
|
NM_013339.4(ALG6):c.257+2dup
|
rs745426479
|
0.00002
|
NM_013339.4(ALG6):c.337C>T (p.Arg113Cys)
|
rs754672490
|
0.00002
|
NM_013339.4(ALG6):c.347-13C>G
|
rs981893296
|
0.00002
|
NM_013339.4(ALG6):c.495-16C>A
|
rs371088118
|
0.00002
|
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)
|
rs1287725303
|
0.00002
|
NM_013339.4(ALG6):c.54A>G (p.Arg18=)
|
rs373800951
|
0.00002
|
NM_013339.4(ALG6):c.681-5T>C
|
rs778405436
|
0.00002
|
NM_013339.4(ALG6):c.727G>A (p.Val243Ile)
|
rs367674567
|
0.00002
|
NM_013339.4(ALG6):c.82+19T>C
|
rs376116153
|
0.00002
|
NM_013339.4(ALG6):c.839G>A (p.Cys280Tyr)
|
rs756608021
|
0.00002
|
NM_013339.4(ALG6):c.902+19G>A
|
rs1057522483
|
0.00002
|
NM_013339.4(ALG6):c.921G>A (p.Leu307=)
|
rs572008178
|
0.00002
|
NM_013339.4(ALG6):c.95C>T (p.Pro32Leu)
|
rs770413804
|
0.00002
|
NM_013339.4(ALG6):c.*1464A>C
|
rs1316941453
|
0.00001
|
NM_013339.4(ALG6):c.*152T>C
|
rs886046473
|
0.00001
|
NM_013339.4(ALG6):c.*174A>G
|
rs886046474
|
0.00001
|
NM_013339.4(ALG6):c.*436T>C
|
rs550372028
|
0.00001
|
NM_013339.4(ALG6):c.1005A>G (p.Ser335=)
|
rs146094200
|
0.00001
|
NM_013339.4(ALG6):c.101T>C (p.Met34Thr)
|
rs750689981
|
0.00001
|
NM_013339.4(ALG6):c.1029A>G (p.Val343=)
|
rs776279526
|
0.00001
|
NM_013339.4(ALG6):c.1059-8G>T
|
rs755900020
|
0.00001
|
NM_013339.4(ALG6):c.1092T>C (p.Phe364=)
|
rs751867296
|
0.00001
|
NM_013339.4(ALG6):c.1116G>A (p.Val372=)
|
rs774866544
|
0.00001
|
NM_013339.4(ALG6):c.1127+12C>A
|
rs539762580
|
0.00001
|
NM_013339.4(ALG6):c.1128-11T>C
|
rs760830321
|
0.00001
|
NM_013339.4(ALG6):c.1128-18A>T
|
rs1057523181
|
0.00001
|
NM_013339.4(ALG6):c.1129A>G (p.Met377Val)
|
rs934616664
|
0.00001
|
NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser)
|
rs150976885
|
0.00001
|
NM_013339.4(ALG6):c.1138C>A (p.Leu380Ile)
|
rs1461862944
|
0.00001
|
NM_013339.4(ALG6):c.1173T>G (p.Val391=)
|
rs759859422
|
0.00001
|
NM_013339.4(ALG6):c.1204G>A (p.Val402Ile)
|
rs1212756714
|
0.00001
|
NM_013339.4(ALG6):c.1275G>A (p.Val425=)
|
rs1455501558
|
0.00001
|
NM_013339.4(ALG6):c.1319A>G (p.Gln440Arg)
|
rs1475278999
|
0.00001
|
NM_013339.4(ALG6):c.1320A>G (p.Gln440=)
|
rs137918665
|
0.00001
|
NM_013339.4(ALG6):c.1326+6T>A
|
rs765364882
|
0.00001
|
NM_013339.4(ALG6):c.1327-16C>T
|
rs1479573763
|
0.00001
|
NM_013339.4(ALG6):c.1327-4G>A
|
rs1395718435
|
0.00001
|
NM_013339.4(ALG6):c.1341C>T (p.Val447=)
|
rs777326636
|
0.00001
|
NM_013339.4(ALG6):c.1353G>C (p.Val451=)
|
rs1346474951
|
0.00001
|
NM_013339.4(ALG6):c.1365G>A (p.Leu455=)
|
rs772957444
|
0.00001
|
NM_013339.4(ALG6):c.1366A>G (p.Met456Val)
|
rs1463890121
|
0.00001
|
NM_013339.4(ALG6):c.1399C>T (p.Pro467Ser)
|
rs752244400
|
0.00001
|
NM_013339.4(ALG6):c.1400C>T (p.Pro467Leu)
|
rs548994709
|
0.00001
|
NM_013339.4(ALG6):c.1401G>A (p.Pro467=)
|
rs149524560
|
0.00001
|
NM_013339.4(ALG6):c.1422G>A (p.Val474=)
|
rs1644682242
|
0.00001
|
NM_013339.4(ALG6):c.1444T>G (p.Phe482Val)
|
rs1215619833
|
0.00001
|
NM_013339.4(ALG6):c.1451T>A (p.Phe484Tyr)
|
rs749363896
|
0.00001
|
NM_013339.4(ALG6):c.1456T>G (p.Leu486Val)
|
rs1274029656
|
0.00001
|
NM_013339.4(ALG6):c.1509G>A (p.Gln503=)
|
rs368314781
|
0.00001
|
NM_013339.4(ALG6):c.150T>C (p.Asn50=)
|
rs752563803
|
0.00001
|
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?)
|
rs759636698
|
0.00001
|
NM_013339.4(ALG6):c.155C>T (p.Pro52Leu)
|
rs201074540
|
0.00001
|
NM_013339.4(ALG6):c.167+8A>G
|
rs902593542
|
0.00001
|
NM_013339.4(ALG6):c.168-15T>A
|
rs1213992277
|
0.00001
|
NM_013339.4(ALG6):c.208T>C (p.Leu70=)
|
rs748752494
|
0.00001
|
NM_013339.4(ALG6):c.213T>C (p.Asp71=)
|
rs1440836116
|
0.00001
|
NM_013339.4(ALG6):c.219A>T (p.Pro73=)
|
rs187446493
|
0.00001
|
NM_013339.4(ALG6):c.237T>G (p.His79Gln)
|
rs747184607
|
0.00001
|
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)
|
rs762643273
|
0.00001
|
NM_013339.4(ALG6):c.258-15T>C
|
rs1427230309
|
0.00001
|
NM_013339.4(ALG6):c.258-4G>C
|
rs376611585
|
0.00001
|
NM_013339.4(ALG6):c.26T>C (p.Val9Ala)
|
rs1456036206
|
0.00001
|
NM_013339.4(ALG6):c.294T>C (p.His98=)
|
rs1644480931
|
0.00001
|
NM_013339.4(ALG6):c.2T>C (p.Met1Thr)
|
rs1387214955
|
0.00001
|
NM_013339.4(ALG6):c.302G>A (p.Arg101His)
|
rs760245924
|
0.00001
|
NM_013339.4(ALG6):c.321A>G (p.Ala107=)
|
rs766050737
|
0.00001
|
NM_013339.4(ALG6):c.328C>G (p.Leu110Val)
|
rs753362025
|
0.00001
|
NM_013339.4(ALG6):c.342A>C (p.Thr114=)
|
rs113591571
|
0.00001
|
NM_013339.4(ALG6):c.347-18A>G
|
rs1388308664
|
0.00001
|
NM_013339.4(ALG6):c.366G>C (p.Leu122=)
|
rs1368717618
|
0.00001
|
NM_013339.4(ALG6):c.37A>C (p.Ile13Leu)
|
rs1407217511
|
0.00001
|
NM_013339.4(ALG6):c.429+1G>T
|
rs781097055
|
0.00001
|
NM_013339.4(ALG6):c.429+7T>G
|
rs1179620229
|
0.00001
|
NM_013339.4(ALG6):c.430-9T>G
|
rs769256352
|
0.00001
|
NM_013339.4(ALG6):c.447C>T (p.Cys149=)
|
rs1251724917
|
0.00001
|
NM_013339.4(ALG6):c.470T>G (p.Ile157Ser)
|
rs768049817
|
0.00001
|
NM_013339.4(ALG6):c.475A>G (p.Ile159Val)
|
rs531362960
|
0.00001
|
NM_013339.4(ALG6):c.476T>C (p.Ile159Thr)
|
rs1037253381
|
0.00001
|
NM_013339.4(ALG6):c.480C>T (p.Asp160=)
|
rs1368642972
|
0.00001
|
NM_013339.4(ALG6):c.483T>C (p.Tyr161=)
|
rs1275254106
|
0.00001
|
NM_013339.4(ALG6):c.494+15T>C
|
rs777671830
|
0.00001
|
NM_013339.4(ALG6):c.495-14T>G
|
rs1434021697
|
0.00001
|
NM_013339.4(ALG6):c.495-2A>G
|
rs1227131990
|
0.00001
|
NM_013339.4(ALG6):c.510del (p.Gly172fs)
|
rs773277552
|
0.00001
|
NM_013339.4(ALG6):c.529G>A (p.Gly177Ser)
|
rs1250215676
|
0.00001
|
NM_013339.4(ALG6):c.574G>A (p.Ala192Thr)
|
rs878890161
|
0.00001
|
NM_013339.4(ALG6):c.591A>G (p.Ile197Met)
|
rs753024606
|
0.00001
|
NM_013339.4(ALG6):c.630T>C (p.Phe210=)
|
rs1231951186
|
0.00001
|
NM_013339.4(ALG6):c.648C>G (p.Gly216=)
|
rs1270440540
|
0.00001
|
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg)
|
rs140879997
|
0.00001
|
NM_013339.4(ALG6):c.680+14A>T
|
rs531280238
|
0.00001
|
NM_013339.4(ALG6):c.680+1G>A
|
rs1253289234
|
0.00001
|
NM_013339.4(ALG6):c.680+2T>G
|
rs868768232
|
0.00001
|
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu)
|
rs372079206
|
0.00001
|
NM_013339.4(ALG6):c.681-8T>G
|
rs754415021
|
0.00001
|
NM_013339.4(ALG6):c.693A>G (p.Leu231=)
|
rs777520437
|
0.00001
|
NM_013339.4(ALG6):c.735C>T (p.Cys245=)
|
rs1193951173
|
0.00001
|
NM_013339.4(ALG6):c.795G>A (p.Pro265=)
|
rs144939122
|
0.00001
|
NM_013339.4(ALG6):c.798T>G (p.Val266=)
|
rs1644519075
|
0.00001
|
NM_013339.4(ALG6):c.816+4T>C
|
rs762931650
|
0.00001
|
NM_013339.4(ALG6):c.828C>G (p.Ala276=)
|
rs1325407009
|
0.00001
|
NM_013339.4(ALG6):c.862A>G (p.Ile288Val)
|
rs557790186
|
0.00001
|
NM_013339.4(ALG6):c.886A>G (p.Ile296Val)
|
rs1450720827
|
0.00001
|
NM_013339.4(ALG6):c.891A>G (p.Gln297=)
|
rs759310974
|
0.00001
|
NM_013339.4(ALG6):c.902+15G>A
|
rs1335275470
|
0.00001
|
NM_013339.4(ALG6):c.90T>C (p.Gly30=)
|
rs768726497
|
0.00001
|
NM_013339.4(ALG6):c.914C>T (p.Thr305Met)
|
rs546145736
|
0.00001
|
NM_013339.4(ALG6):c.925C>T (p.Leu309=)
|
rs1311428677
|
0.00001
|
NM_013339.4(ALG6):c.987+12A>G
|
rs758406155
|
0.00001
|
NM_013339.4(ALG6):c.997G>C (p.Ala333Pro)
|
rs1212125571
|
0.00001
|
NC_000001.10:g.(?_63836639)_(63902701_?)del
|
|
|
NC_000001.10:g.(?_63836649)_(63836750_?)del
|
|
|
NC_000001.10:g.(?_63862164)_(63862288_?)del
|
|
|
NC_000001.10:g.(?_63867905)_(63870232_?)del
|
|
|
NC_000001.10:g.(?_63867905)_(63902691_?)del
|
|
|
NC_000001.10:g.(?_63867915)_(63868024_?)del
|
|
|
NC_000001.10:g.(?_63881524)_(63885131_?)del
|
|
|
NC_000001.10:g.(?_63881705)_(63885042_?)del
|
|
|
NC_000001.10:g.(?_63885021)_(63885131_?)del
|
|
|
NC_000001.11:g.(?_63396503)_(63396607_?)dup
|
|
|
NC_000001.11:g.(?_63428723)_(63429136_?)del
|
|
|
NM_013339.4(ALG6):c.*1238A>C
|
rs1644697712
|
|
NM_013339.4(ALG6):c.*454C>T
|
rs903370494
|
|
NM_013339.4(ALG6):c.*89G>A
|
rs531808380
|
|
NM_013339.4(ALG6):c.1000C>T (p.Leu334=)
|
|
|
NM_013339.4(ALG6):c.1000delinsGG (p.Leu334fs)
|
|
|
NM_013339.4(ALG6):c.1005A>C (p.Ser335=)
|
rs146094200
|
|
NM_013339.4(ALG6):c.1005A>T (p.Ser335=)
|
|
|
NM_013339.4(ALG6):c.1006_1007del (p.Phe336fs)
|
rs1644562014
|
|
NM_013339.4(ALG6):c.100A>C (p.Met34Leu)
|
rs1557585842
|
|
NM_013339.4(ALG6):c.100A>G (p.Met34Val)
|
|
|
NM_013339.4(ALG6):c.100_101del (p.Met34fs)
|
|
|
NM_013339.4(ALG6):c.1011T>C (p.Phe337=)
|
rs2100428006
|
|
NM_013339.4(ALG6):c.1013T>A (p.Leu338Ter)
|
|
|
NM_013339.4(ALG6):c.1013del (p.Leu338fs)
|
|
|
NM_013339.4(ALG6):c.1018del (p.Ser340fs)
|
rs1269984067
|
|
NM_013339.4(ALG6):c.1029dup (p.His344fs)
|
|
|
NM_013339.4(ALG6):c.1031A>G (p.His344Arg)
|
|
|
NM_013339.4(ALG6):c.1033G>C (p.Glu345Gln)
|
|
|
NM_013339.4(ALG6):c.1041C>G (p.Ser347=)
|
|
|
NM_013339.4(ALG6):c.1047C>T (p.Leu349=)
|
rs2100428058
|
|
NM_013339.4(ALG6):c.1048T>C (p.Leu350=)
|
|
|
NM_013339.4(ALG6):c.104T>C (p.Phe35Ser)
|
|
|
NM_013339.4(ALG6):c.1051G>A (p.Val351Met)
|
|
|
NM_013339.4(ALG6):c.1051G>T (p.Val351Leu)
|
|
|
NM_013339.4(ALG6):c.1058+16T>G
|
|
|
NM_013339.4(ALG6):c.1058+16del
|
|
|
NM_013339.4(ALG6):c.1058+19A>C
|
|
|
NM_013339.4(ALG6):c.1058+1G>A
|
|
|
NM_013339.4(ALG6):c.1058+6T>C
|
rs1644562441
|
|
NM_013339.4(ALG6):c.1058+7A>G
|
rs2100428084
|
|
NM_013339.4(ALG6):c.1059-20T>G
|
|
|
NM_013339.4(ALG6):c.1059-4T>G
|
|
|
NM_013339.4(ALG6):c.1059-7A>C
|
|
|
NM_013339.4(ALG6):c.1059-7A>G
|
rs769414669
|
|
NM_013339.4(ALG6):c.1059-8G>A
|
rs755900020
|
|
NM_013339.4(ALG6):c.1060C>T (p.Pro354Ser)
|
|
|
NM_013339.4(ALG6):c.1061C>T (p.Pro354Leu)
|
|
|
NM_013339.4(ALG6):c.1066T>C (p.Cys356Arg)
|
|
|
NM_013339.4(ALG6):c.1072_1076del (p.Val358fs)
|
|
|
NM_013339.4(ALG6):c.1075T>G (p.Leu359Val)
|
rs1260829753
|
|
NM_013339.4(ALG6):c.1076T>A (p.Leu359Ter)
|
|
|
NM_013339.4(ALG6):c.107G>A (p.Gly36Asp)
|
|
|
NM_013339.4(ALG6):c.1087C>A (p.Pro363Thr)
|
rs952006163
|
|
NM_013339.4(ALG6):c.1097C>T (p.Ser366Phe)
|
|
|
NM_013339.4(ALG6):c.1111C>T (p.Leu371Phe)
|
rs764449670
|
|
NM_013339.4(ALG6):c.1112T>C (p.Leu371Pro)
|
rs1644630271
|
|
NM_013339.4(ALG6):c.1113del (p.Val372fs)
|
|
|
NM_013339.4(ALG6):c.1116G>T (p.Val372=)
|
|
|
NM_013339.4(ALG6):c.1121C>T (p.Thr374Ile)
|
|
|
NM_013339.4(ALG6):c.1125T>G (p.Phe375Leu)
|
|
|
NM_013339.4(ALG6):c.1127+11T>C
|
rs1436987592
|
|
NM_013339.4(ALG6):c.1127+14A>G
|
|
|
NM_013339.4(ALG6):c.1127+18C>G
|
|
|
NM_013339.4(ALG6):c.1127+1G>A
|
rs1557597486
|
|
NM_013339.4(ALG6):c.1127+20A>G
|
|
|
NM_013339.4(ALG6):c.1127+4A>G
|
rs2100440455
|
|
NM_013339.4(ALG6):c.1127+8A>C
|
rs756307525
|
|
NM_013339.4(ALG6):c.1127+8A>G
|
rs756307525
|
|
NM_013339.4(ALG6):c.1127+9T>A
|
rs1303052047
|
|
NM_013339.4(ALG6):c.1128-15A>C
|
|
|
NM_013339.4(ALG6):c.1128-19T>A
|
|
|
NM_013339.4(ALG6):c.1128-1G>A
|
rs1644631015
|
|
NM_013339.4(ALG6):c.1128-2A>C
|
rs1553156882
|
|
NM_013339.4(ALG6):c.1128-3C>T
|
|
|
NM_013339.4(ALG6):c.1128-9C>T
|
rs2100440607
|
|
NM_013339.4(ALG6):c.1134A>C (p.Leu378=)
|
|
|
NM_013339.4(ALG6):c.1134A>G (p.Leu378=)
|
|
|
NM_013339.4(ALG6):c.1136del (p.Pro379fs)
|
rs1553156884
|
|
NM_013339.4(ALG6):c.1137T>A (p.Pro379=)
|
|
|
NM_013339.4(ALG6):c.1144T>C (p.Leu382=)
|
|
|
NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter)
|
|
|
NM_013339.4(ALG6):c.1161A>G (p.Leu387=)
|
|
|
NM_013339.4(ALG6):c.1167del (p.Ser390fs)
|
rs769698652
|
|
NM_013339.4(ALG6):c.1171_1172del (p.Val391fs)
|
rs2100440701
|
|
NM_013339.4(ALG6):c.1176G>A (p.Val392=)
|
rs751280587
|
|
NM_013339.4(ALG6):c.1178C>A (p.Thr393Lys)
|
rs1644631363
|
|
NM_013339.4(ALG6):c.1188A>G (p.Ala396=)
|
|
|
NM_013339.4(ALG6):c.1192T>C (p.Phe398Leu)
|
|
|
NM_013339.4(ALG6):c.1193_1198del (p.Phe398_Ala400delinsSer)
|
rs1553156893
|
|
NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs)
|
rs1553156894
|
|
NM_013339.4(ALG6):c.1194dup (p.Ile399fs)
|
rs1207096732
|
|
NM_013339.4(ALG6):c.1203T>C (p.Cys401=)
|
|
|
NM_013339.4(ALG6):c.1206A>G (p.Val402=)
|
|
|
NM_013339.4(ALG6):c.121C>T (p.Gln41Ter)
|
rs759308812
|
|
NM_013339.4(ALG6):c.1227A>G (p.Glu409=)
|
|
|
NM_013339.4(ALG6):c.1228_1229del (p.Lys410fs)
|
|
|
NM_013339.4(ALG6):c.1237GAA[2] (p.Glu415del)
|
rs773295759
|
|
NM_013339.4(ALG6):c.123G>A (p.Gln41=)
|
|
|
NM_013339.4(ALG6):c.1242A>G (p.Glu414=)
|
|
|
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs)
|
|
|
NM_013339.4(ALG6):c.1249C>T (p.Gln417Ter)
|
rs1644631921
|
|
NM_013339.4(ALG6):c.1254G>A (p.Leu418=)
|
rs2100440829
|
|
NM_013339.4(ALG6):c.1257A>G (p.Lys419=)
|
|
|
NM_013339.4(ALG6):c.1260C>A (p.Ser420=)
|
|
|
NM_013339.4(ALG6):c.1260C>T (p.Ser420=)
|
|
|
NM_013339.4(ALG6):c.1266C>A (p.Ser422=)
|
rs748902317
|
|
NM_013339.4(ALG6):c.1266C>T (p.Ser422=)
|
rs748902317
|
|
NM_013339.4(ALG6):c.1272T>A (p.Ser424=)
|
|
|
NM_013339.4(ALG6):c.1281A>G (p.Lys427=)
|
|
|
NM_013339.4(ALG6):c.1290A>G (p.Pro430=)
|
|
|
NM_013339.4(ALG6):c.1291T>G (p.Cys431Gly)
|
|
|
NM_013339.4(ALG6):c.1296T>C (p.Phe432=)
|
rs2100440862
|
|
NM_013339.4(ALG6):c.129C>T (p.His43=)
|
rs2100404957
|
|
NM_013339.4(ALG6):c.12G>A (p.Trp4Ter)
|
|
|
NM_013339.4(ALG6):c.1303C>A (p.Leu435Ile)
|
rs2100440869
|
|
NM_013339.4(ALG6):c.1307C>A (p.Ser436Tyr)
|
|
|
NM_013339.4(ALG6):c.1308del (p.Arg437fs)
|
|
|
NM_013339.4(ALG6):c.130T>C (p.Trp44Arg)
|
rs2100404960
|
|
NM_013339.4(ALG6):c.1310G>T (p.Arg437Ile)
|
rs1318387105
|
|
NM_013339.4(ALG6):c.1325T>C (p.Leu442Ser)
|
rs2100440907
|
|
NM_013339.4(ALG6):c.1326+10A>G
|
|
|
NM_013339.4(ALG6):c.1326+1G>A
|
|
|
NM_013339.4(ALG6):c.1326+1G>T
|
rs1475789647
|
|
NM_013339.4(ALG6):c.1326+2dup
|
|
|
NM_013339.4(ALG6):c.1326+8C>G
|
rs2100440914
|
|
NM_013339.4(ALG6):c.1326+8C>T
|
|
|
NM_013339.4(ALG6):c.1327-12T>C
|
|
|
NM_013339.4(ALG6):c.1327-13T>C
|
|
|
NM_013339.4(ALG6):c.1327-15T>C
|
|
|
NM_013339.4(ALG6):c.1327-16C>A
|
|
|
NM_013339.4(ALG6):c.1327-17C>T
|
|
|
NM_013339.4(ALG6):c.1327-5T>G
|
|
|
NM_013339.4(ALG6):c.1327-8C>T
|
rs1004908693
|
|
NM_013339.4(ALG6):c.1327-9dup
|
rs1236127359
|
|
NM_013339.4(ALG6):c.1338dup (p.Val447fs)
|
rs1644681692
|
|
NM_013339.4(ALG6):c.1342A>C (p.Ile448Leu)
|
|
|
NM_013339.4(ALG6):c.1344C>T (p.Ile448=)
|
|
|
NM_013339.4(ALG6):c.1346C>G (p.Thr449Ser)
|
rs552078516
|
|
NM_013339.4(ALG6):c.1347T>C (p.Thr449=)
|
rs1644681761
|
|
NM_013339.4(ALG6):c.1359G>A (p.Leu453=)
|
rs2100448162
|
|
NM_013339.4(ALG6):c.1363T>C (p.Leu455=)
|
rs2100448173
|
|
NM_013339.4(ALG6):c.1364TGA[1] (p.Met456del)
|
rs1553157427
|
|
NM_013339.4(ALG6):c.1367T>C (p.Met456Thr)
|
|
|
NM_013339.4(ALG6):c.1371T>C (p.Thr457=)
|
|
|
NM_013339.4(ALG6):c.1372_1373del (p.Val458fs)
|
|
|
NM_013339.4(ALG6):c.137A>G (p.Glu46Gly)
|
|
|
NM_013339.4(ALG6):c.1386T>C (p.Pro462=)
|
rs1644682042
|
|
NM_013339.4(ALG6):c.138A>G (p.Glu46=)
|
|
|
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)
|
rs1553157428
|
|
NM_013339.4(ALG6):c.1394_1398dup (p.Pro467fs)
|
rs1553157429
|
|
NM_013339.4(ALG6):c.1402G>C (p.Asp468His)
|
rs1644682187
|
|
NM_013339.4(ALG6):c.1413T>G (p.Ser471=)
|
rs2100448244
|
|
NM_013339.4(ALG6):c.1414G>A (p.Val472Ile)
|
rs1644682228
|
|
NM_013339.4(ALG6):c.1414G>C (p.Val472Leu)
|
rs1644682228
|
|
NM_013339.4(ALG6):c.1428T>C (p.Phe476=)
|
|
|
NM_013339.4(ALG6):c.1429G>C (p.Val477Leu)
|
rs747356051
|
|
NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro)
|
rs121908444
|
|
NM_013339.4(ALG6):c.1436G>T (p.Cys479Phe)
|
|
|
NM_013339.4(ALG6):c.1443C>T (p.Asn481=)
|
rs1057524080
|
|
NM_013339.4(ALG6):c.1449G>A (p.Leu483=)
|
rs1644682453
|
|
NM_013339.4(ALG6):c.1449G>C (p.Leu483=)
|
|
|
NM_013339.4(ALG6):c.144T>A (p.Thr48=)
|
|
|
NM_013339.4(ALG6):c.1456T>C (p.Leu486=)
|
|
|
NM_013339.4(ALG6):c.1458G>C (p.Leu486Phe)
|
|
|
NM_013339.4(ALG6):c.1467T>C (p.Phe489=)
|
|
|
NM_013339.4(ALG6):c.1469_1474del (p.Asn490_Ile491del)
|
rs1553157450
|
|
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)
|
rs756566938
|
|
NM_013339.4(ALG6):c.1473TAT[4] (p.Ile493dup)
|
rs1475726598
|
|
NM_013339.4(ALG6):c.1476T>C (p.Ile492=)
|
rs2100448349
|
|
NM_013339.4(ALG6):c.1479T>A (p.Ile493=)
|
rs1644682686
|
|
NM_013339.4(ALG6):c.147del (p.Phe49fs)
|
|
|
NM_013339.4(ALG6):c.1481T>C (p.Met494Thr)
|
rs766169939
|
|
NM_013339.4(ALG6):c.1490C>A (p.Ser497Tyr)
|
|
|
NM_013339.4(ALG6):c.1496G>A (p.Ser499Asn)
|
|
|
NM_013339.4(ALG6):c.1501A>G (p.Arg501Gly)
|
rs1644682851
|
|
NM_013339.4(ALG6):c.1506T>C (p.Asn502=)
|
|
|
NM_013339.4(ALG6):c.1508A>G (p.Gln503Arg)
|
|
|
NM_013339.4(ALG6):c.151T>A (p.Leu51Ile)
|
|
|
NM_013339.4(ALG6):c.1524G>A (p.Ter508=)
|
|
|
NM_013339.4(ALG6):c.154C>T (p.Pro52Ser)
|
|
|
NM_013339.4(ALG6):c.15C>T (p.Tyr5=)
|
rs1160519305
|
|
NM_013339.4(ALG6):c.167+14A>G
|
|
|
NM_013339.4(ALG6):c.167+15A>G
|
|
|
NM_013339.4(ALG6):c.167+19G>C
|
|
|
NM_013339.4(ALG6):c.167+5G>A
|
rs1557585860
|
|
NM_013339.4(ALG6):c.167+7del
|
|
|
NM_013339.4(ALG6):c.168-1G>A
|
|
|
NM_013339.4(ALG6):c.168-5T>C
|
rs2100412747
|
|
NM_013339.4(ALG6):c.168-9C>G
|
rs751572798
|
|
NM_013339.4(ALG6):c.168G>A (p.Trp56Ter)
|
|
|
NM_013339.4(ALG6):c.16T>C (p.Leu6=)
|
rs1439550994
|
|
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)
|
rs780528545
|
|
NM_013339.4(ALG6):c.171T>C (p.Tyr57=)
|
|
|
NM_013339.4(ALG6):c.171T>G (p.Tyr57Ter)
|
rs780528545
|
|
NM_013339.4(ALG6):c.178A>C (p.Ser60Arg)
|
rs1330438032
|
|
NM_013339.4(ALG6):c.178A>G (p.Ser60Gly)
|
|
|
NM_013339.4(ALG6):c.180C>G (p.Ser60Arg)
|
|
|
NM_013339.4(ALG6):c.189_191del (p.Asn64del)
|
rs1553155267
|
|
NM_013339.4(ALG6):c.192T>C (p.Asn64=)
|
rs1644468589
|
|
NM_013339.4(ALG6):c.19A>G (p.Met7Val)
|
|
|
NM_013339.4(ALG6):c.201T>C (p.Tyr67=)
|
rs2100412804
|
|
NM_013339.4(ALG6):c.20T>C (p.Met7Thr)
|
|
|
NM_013339.4(ALG6):c.218C>T (p.Pro73Leu)
|
rs2100412827
|
|
NM_013339.4(ALG6):c.226dup (p.Thr76fs)
|
|
|
NM_013339.4(ALG6):c.227C>T (p.Thr76Ile)
|
rs773292757
|
|
NM_013339.4(ALG6):c.230_238delinsTCTCCTAT (p.Ala77fs)
|
|
|
NM_013339.4(ALG6):c.232del (p.Tyr78fs)
|
|
|
NM_013339.4(ALG6):c.234T>C (p.Tyr78=)
|
|
|
NM_013339.4(ALG6):c.235_237del (p.His79del)
|
rs1297610094
|
|
NM_013339.4(ALG6):c.236A>T (p.His79Leu)
|
|
|
NM_013339.4(ALG6):c.23C>G (p.Thr8Arg)
|
|
|
NM_013339.4(ALG6):c.246A>C (p.Leu82=)
|
rs112029121
|
|
NM_013339.4(ALG6):c.246A>G (p.Leu82=)
|
|
|
NM_013339.4(ALG6):c.24A>C (p.Thr8=)
|
rs2100378424
|
|
NM_013339.4(ALG6):c.254_255del (p.Tyr85fs)
|
rs2100412885
|
|
NM_013339.4(ALG6):c.256G>A (p.Val86Met)
|
|
|
NM_013339.4(ALG6):c.257+10del
|
|
|
NM_013339.4(ALG6):c.257+14del
|
|
|
NM_013339.4(ALG6):c.257+17T>C
|
|
|
NM_013339.4(ALG6):c.257+19A>T
|
|
|
NM_013339.4(ALG6):c.257+2T>C
|
rs1644468935
|
|
NM_013339.4(ALG6):c.258-13C>G
|
|
|
NM_013339.4(ALG6):c.258-14G>A
|
rs1644480698
|
|
NM_013339.4(ALG6):c.258-15T>A
|
rs1427230309
|
|
NM_013339.4(ALG6):c.258-18A>C
|
|
|
NM_013339.4(ALG6):c.258-18A>G
|
|
|
NM_013339.4(ALG6):c.258-19T>C
|
|
|
NM_013339.4(ALG6):c.258-2A>C
|
rs2100415367
|
|
NM_013339.4(ALG6):c.258-3C>T
|
|
|
NM_013339.4(ALG6):c.258-4G>T
|
rs376611585
|
|
NM_013339.4(ALG6):c.258-8A>G
|
rs1570063031
|
|
NM_013339.4(ALG6):c.258-9G>T
|
|
|
NM_013339.4(ALG6):c.258-9_267del
|
rs2100415350
|
|
NM_013339.4(ALG6):c.272A>G (p.Asn91Ser)
|
rs2100415389
|
|
NM_013339.4(ALG6):c.278A>G (p.Asp93Gly)
|
rs1329673040
|
|
NM_013339.4(ALG6):c.279C>T (p.Asp93=)
|
rs2100415406
|
|
NM_013339.4(ALG6):c.27A>C (p.Val9=)
|
|
|
NM_013339.4(ALG6):c.281G>A (p.Trp94Ter)
|
|
|
NM_013339.4(ALG6):c.282G>T (p.Trp94Cys)
|
|
|
NM_013339.4(ALG6):c.285_286insTATAAACTTT (p.Ala96fs)
|
|
|
NM_013339.4(ALG6):c.288T>C (p.Ala96=)
|
|
|
NM_013339.4(ALG6):c.290del (p.Leu97fs)
|
rs1644480895
|
|
NM_013339.4(ALG6):c.291C>T (p.Leu97=)
|
rs1232614059
|
|
NM_013339.4(ALG6):c.297A>G (p.Thr99=)
|
rs2100415439
|
|
NM_013339.4(ALG6):c.301C>T (p.Arg101Cys)
|
|
|
NM_013339.4(ALG6):c.303T>A (p.Arg101=)
|
|
|
NM_013339.4(ALG6):c.316C>T (p.Gln106Ter)
|
rs1240285695
|
|
NM_013339.4(ALG6):c.318G>A (p.Gln106=)
|
rs1316712862
|
|
NM_013339.4(ALG6):c.322C>G (p.His108Asp)
|
rs2100415489
|
|
NM_013339.4(ALG6):c.325A>G (p.Lys109Glu)
|
rs1644481094
|
|
NM_013339.4(ALG6):c.326A>T (p.Lys109Met)
|
|
|
NM_013339.4(ALG6):c.327G>A (p.Lys109=)
|
rs1389168920
|
|
NM_013339.4(ALG6):c.338G>T (p.Arg113Leu)
|
|
|
NM_013339.4(ALG6):c.346+11A>G
|
|
|
NM_013339.4(ALG6):c.346+12A>G
|
|
|
NM_013339.4(ALG6):c.346+13T>C
|
|
|
NM_013339.4(ALG6):c.346+15G>T
|
|
|
NM_013339.4(ALG6):c.346+16G>A
|
rs76013640
|
|
NM_013339.4(ALG6):c.346+16G>T
|
rs76013640
|
|
NM_013339.4(ALG6):c.346+19G>A
|
|
|
NM_013339.4(ALG6):c.346+20T>C
|
|
|
NM_013339.4(ALG6):c.346+5A>G
|
|
|
NM_013339.4(ALG6):c.346+6dup
|
|
|
NM_013339.4(ALG6):c.346+7G>C
|
rs1159085775
|
|
NM_013339.4(ALG6):c.346+8A>G
|
|
|
NM_013339.4(ALG6):c.347-14A>C
|
|
|
NM_013339.4(ALG6):c.347-17T>C
|
|
|
NM_013339.4(ALG6):c.347-2A>G
|
|
|
NM_013339.4(ALG6):c.350T>A (p.Leu117Ter)
|
|
|
NM_013339.4(ALG6):c.352del (p.Ile118fs)
|
|
|
NM_013339.4(ALG6):c.390G>T (p.Leu130Phe)
|
rs961740482
|
|
NM_013339.4(ALG6):c.399T>A (p.Cys133Ter)
|
|
|
NM_013339.4(ALG6):c.409G>T (p.Glu137Ter)
|
rs2100417039
|
|
NM_013339.4(ALG6):c.410A>T (p.Glu137Val)
|
|
|
NM_013339.4(ALG6):c.415T>C (p.Ser139Pro)
|
|
|
NM_013339.4(ALG6):c.419C>T (p.Thr140Ile)
|
|
|
NM_013339.4(ALG6):c.420T>A (p.Thr140=)
|
rs150097046
|
|
NM_013339.4(ALG6):c.425A>T (p.Lys142Ile)
|
rs2100417063
|
|
NM_013339.4(ALG6):c.428A>C (p.Lys143Thr)
|
rs2100417066
|
|
NM_013339.4(ALG6):c.428del (p.Lys143fs)
|
rs1471326272
|
|
NM_013339.4(ALG6):c.429+1G>A
|
|
|
NM_013339.4(ALG6):c.429+2T>C
|
|
|
NM_013339.4(ALG6):c.429+2T>G
|
rs1270337982
|
|
NM_013339.4(ALG6):c.429+9T>C
|
|
|
NM_013339.4(ALG6):c.429G>A (p.Lys143=)
|
rs193223712
|
|
NM_013339.4(ALG6):c.430-10G>C
|
|
|
NM_013339.4(ALG6):c.430-18C>T
|
|
|
NM_013339.4(ALG6):c.430-19A>G
|
|
|
NM_013339.4(ALG6):c.430-2A>G
|
rs1553155565
|
|
NM_013339.4(ALG6):c.431T>C (p.Ile144Thr)
|
|
|
NM_013339.4(ALG6):c.434C>G (p.Ala145Gly)
|
|
|
NM_013339.4(ALG6):c.435T>A (p.Ala145=)
|
|
|
NM_013339.4(ALG6):c.442T>C (p.Leu148=)
|
|
|
NM_013339.4(ALG6):c.443dup (p.Leu148fs)
|
|
|
NM_013339.4(ALG6):c.446G>C (p.Cys149Ser)
|
rs2100417551
|
|
NM_013339.4(ALG6):c.448A>G (p.Ile150Val)
|
rs571644669
|
|
NM_013339.4(ALG6):c.44T>A (p.Leu15Gln)
|
|
|
NM_013339.4(ALG6):c.450C>A (p.Ile150=)
|
rs1644492796
|
|
NM_013339.4(ALG6):c.452del (p.Leu151fs)
|
rs1349358854
|
|
NM_013339.4(ALG6):c.454C>T (p.Leu152=)
|
|
|
NM_013339.4(ALG6):c.456G>A (p.Leu152=)
|
rs751956471
|
|
NM_013339.4(ALG6):c.459T>C (p.Tyr153=)
|
rs887812609
|
|
NM_013339.4(ALG6):c.471_476del (p.156_157LI[1])
|
rs1553155569
|
|
NM_013339.4(ALG6):c.474T>C (p.Leu158=)
|
rs2100417592
|
|
NM_013339.4(ALG6):c.484_485insA (p.Gly162fs)
|
rs2100417620
|
|
NM_013339.4(ALG6):c.489T>C (p.His163=)
|
rs2100417628
|
|
NM_013339.4(ALG6):c.492dup (p.Gln165fs)
|
rs1644493041
|
|
NM_013339.4(ALG6):c.493C>T (p.Gln165Ter)
|
|
|
NM_013339.4(ALG6):c.493del (p.Gln165fs)
|
|
|
NM_013339.4(ALG6):c.495-10A>C
|
|
|
NM_013339.4(ALG6):c.495-2A>T
|
rs1227131990
|
|
NM_013339.4(ALG6):c.495-6G>A
|
|
|
NM_013339.4(ALG6):c.495-8A>G
|
rs2100420744
|
|
NM_013339.4(ALG6):c.495A>G (p.Gln165=)
|
rs886046471
|
|
NM_013339.4(ALG6):c.498T>G (p.Tyr166Ter)
|
|
|
NM_013339.4(ALG6):c.4G>A (p.Glu2Lys)
|
|
|
NM_013339.4(ALG6):c.504T>C (p.Ser168=)
|
|
|
NM_013339.4(ALG6):c.506_507del (p.Val169fs)
|
rs1274913587
|
|
NM_013339.4(ALG6):c.507G>A (p.Val169=)
|
|
|
NM_013339.4(ALG6):c.510T>C (p.Ser170=)
|
|
|
NM_013339.4(ALG6):c.51A>C (p.Val17=)
|
rs2100378459
|
|
NM_013339.4(ALG6):c.527G>A (p.Trp176Ter)
|
|
|
NM_013339.4(ALG6):c.531T>A (p.Gly177=)
|
rs1644513973
|
|
NM_013339.4(ALG6):c.532G>A (p.Val178Ile)
|
rs2100420805
|
|
NM_013339.4(ALG6):c.536_537del (p.Leu179fs)
|
|
|
NM_013339.4(ALG6):c.546T>C (p.Ser182=)
|
rs762983061
|
|
NM_013339.4(ALG6):c.546T>G (p.Ser182=)
|
|
|
NM_013339.4(ALG6):c.548G>A (p.Cys183Tyr)
|
|
|
NM_013339.4(ALG6):c.552C>T (p.Asp184=)
|
|
|
NM_013339.4(ALG6):c.553T>C (p.Cys185Arg)
|
|
|
NM_013339.4(ALG6):c.561C>T (p.Leu187=)
|
rs2100420841
|
|
NM_013339.4(ALG6):c.562C>T (p.Leu188=)
|
|
|
NM_013339.4(ALG6):c.563T>A (p.Leu188Gln)
|
rs1446317739
|
|
NM_013339.4(ALG6):c.564A>G (p.Leu188=)
|
rs755149107
|
|
NM_013339.4(ALG6):c.574del (p.Ala192fs)
|
rs2100420854
|
|
NM_013339.4(ALG6):c.576A>G (p.Ala192=)
|
rs1421405856
|
|
NM_013339.4(ALG6):c.57G>A (p.Trp19Ter)
|
|
|
NM_013339.4(ALG6):c.597T>C (p.Tyr199=)
|
rs2100420873
|
|
NM_013339.4(ALG6):c.600A>G (p.Lys200=)
|
|
|
NM_013339.4(ALG6):c.602A>G (p.Gln201Arg)
|
rs1644514423
|
|
NM_013339.4(ALG6):c.604A>G (p.Met202Val)
|
|
|
NM_013339.4(ALG6):c.604A>T (p.Met202Leu)
|
rs757012140
|
|
NM_013339.4(ALG6):c.60A>G (p.Thr20=)
|
|
|
NM_013339.4(ALG6):c.619G>A (p.Ala207Thr)
|
|
|
NM_013339.4(ALG6):c.619G>T (p.Ala207Ser)
|
rs756038267
|
|
NM_013339.4(ALG6):c.621C>A (p.Ala207=)
|
rs2100420899
|
|
NM_013339.4(ALG6):c.622T>C (p.Leu208=)
|
|
|
NM_013339.4(ALG6):c.625C>T (p.Pro209Ser)
|
|
|
NM_013339.4(ALG6):c.628T>G (p.Phe210Val)
|
|
|
NM_013339.4(ALG6):c.634T>G (p.Cys212Gly)
|
rs1644514646
|
|
NM_013339.4(ALG6):c.634del (p.Cys212fs)
|
rs879133727
|
|
NM_013339.4(ALG6):c.634dup (p.Cys212fs)
|
rs879133727
|
|
NM_013339.4(ALG6):c.636C>T (p.Cys212=)
|
|
|
NM_013339.4(ALG6):c.63G>A (p.Val21=)
|
|
|
NM_013339.4(ALG6):c.63G>T (p.Val21=)
|
rs1647908648
|
|
NM_013339.4(ALG6):c.642del (p.Leu214fs)
|
|
|
NM_013339.4(ALG6):c.651G>A (p.Lys217=)
|
|
|
NM_013339.4(ALG6):c.654T>A (p.Cys218Ter)
|
|
|
NM_013339.4(ALG6):c.656T>C (p.Phe219Ser)
|
|
|
NM_013339.4(ALG6):c.657del (p.Phe219fs)
|
|
|
NM_013339.4(ALG6):c.658A>T (p.Lys220Ter)
|
|
|
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)
|
rs1553153399
|
|
NM_013339.4(ALG6):c.660A>G (p.Lys220=)
|
rs2100420972
|
|
NM_013339.4(ALG6):c.663del (p.Gly222fs)
|
|
|
NM_013339.4(ALG6):c.663dup (p.Gly222fs)
|
|
|
NM_013339.4(ALG6):c.665_669dup (p.Lys224fs)
|
|
|
NM_013339.4(ALG6):c.670A>T (p.Lys224Ter)
|
|
|
NM_013339.4(ALG6):c.677A>T (p.Lys226Met)
|
|
|
NM_013339.4(ALG6):c.680+10T>C
|
|
|
NM_013339.4(ALG6):c.680+11T>G
|
|
|
NM_013339.4(ALG6):c.680+12T>C
|
rs777324596
|
|
NM_013339.4(ALG6):c.680+19C>T
|
|
|
NM_013339.4(ALG6):c.680+1G>T
|
|
|
NM_013339.4(ALG6):c.680+1del
|
|
|
NM_013339.4(ALG6):c.680+4A>G
|
|
|
NM_013339.4(ALG6):c.680+8del
|
|
|
NM_013339.4(ALG6):c.681-16T>G
|
|
|
NM_013339.4(ALG6):c.681-17C>A
|
|
|
NM_013339.4(ALG6):c.681-17C>G
|
|
|
NM_013339.4(ALG6):c.681-18C>G
|
|
|
NM_013339.4(ALG6):c.681-19A>C
|
|
|
NM_013339.4(ALG6):c.681-1G>T
|
|
|
NM_013339.4(ALG6):c.681-3del
|
rs763183173
|
|
NM_013339.4(ALG6):c.681-4_681-3insGTTTTTTTGTTTGTTT
|
|
|
NM_013339.4(ALG6):c.681-5T>G
|
|
|
NM_013339.4(ALG6):c.681-6T>G
|
|
|
NM_013339.4(ALG6):c.682T>C (p.Phe228Leu)
|
|
|
NM_013339.4(ALG6):c.684del (p.Phe228fs)
|
rs2100421533
|
|
NM_013339.4(ALG6):c.692T>C (p.Leu231Pro)
|
|
|
NM_013339.4(ALG6):c.699G>A (p.Lys233=)
|
|
|
NM_013339.4(ALG6):c.6G>T (p.Glu2Asp)
|
|
|
NM_013339.4(ALG6):c.707G>A (p.Cys236Tyr)
|
|
|
NM_013339.4(ALG6):c.711TGT[1] (p.Val239del)
|
|
|
NM_013339.4(ALG6):c.712G>A (p.Val238Ile)
|
|
|
NM_013339.4(ALG6):c.714T>C (p.Val238=)
|
|
|
NM_013339.4(ALG6):c.714del (p.Val239fs)
|
|
|
NM_013339.4(ALG6):c.720T>G (p.Ala240=)
|
rs2100421596
|
|
NM_013339.4(ALG6):c.723C>G (p.Ser241=)
|
|
|
NM_013339.4(ALG6):c.723del (p.Phe242fs)
|
rs755112036
|
|
NM_013339.4(ALG6):c.726C>G (p.Phe242Leu)
|
|
|
NM_013339.4(ALG6):c.728T>C (p.Val243Ala)
|
rs886046472
|
|
NM_013339.4(ALG6):c.731T>A (p.Leu244His)
|
|
|
NM_013339.4(ALG6):c.732C>T (p.Leu244=)
|
rs528739746
|
|
NM_013339.4(ALG6):c.732_748dup (p.Phe250fs)
|
rs1553155823
|
|
NM_013339.4(ALG6):c.737G>A (p.Trp246Ter)
|
|
|
NM_013339.4(ALG6):c.738G>A (p.Trp246Ter)
|
|
|
NM_013339.4(ALG6):c.741G>T (p.Leu247=)
|
rs1644518821
|
|
NM_013339.4(ALG6):c.742C>A (p.Pro248Thr)
|
|
|
NM_013339.4(ALG6):c.750T>C (p.Phe250=)
|
rs2100421671
|
|
NM_013339.4(ALG6):c.762A>G (p.Glu254=)
|
rs1392863186
|
|
NM_013339.4(ALG6):c.769C>T (p.Leu257=)
|
|
|
NM_013339.4(ALG6):c.771G>A (p.Leu257=)
|
rs2100421694
|
|
NM_013339.4(ALG6):c.772C>T (p.Gln258Ter)
|
|
|
NM_013339.4(ALG6):c.774G>A (p.Gln258=)
|
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|
NM_013339.4(ALG6):c.778C>G (p.Leu260Val)
|
|
|
NM_013339.4(ALG6):c.780A>G (p.Leu260=)
|
|
|
NM_013339.4(ALG6):c.781AGA[1] (p.Arg262del)
|
rs886548508
|
|
NM_013339.4(ALG6):c.789_790del (p.Phe264fs)
|
rs767943869
|
|
NM_013339.4(ALG6):c.791del (p.Phe264fs)
|
rs2100421716
|
|
NM_013339.4(ALG6):c.794C>T (p.Pro265Leu)
|
|
|
NM_013339.4(ALG6):c.796_799dup (p.Asp267delinsGlyTer)
|
rs2100421727
|
|
NM_013339.4(ALG6):c.798T>C (p.Val266=)
|
|
|
NM_013339.4(ALG6):c.798_804dup (p.Gly269Ter)
|
|
|
NM_013339.4(ALG6):c.804T>C (p.Arg268=)
|
rs1644519126
|
|
NM_013339.4(ALG6):c.816+11del
|
|
|
NM_013339.4(ALG6):c.816+12C>A
|
|
|
NM_013339.4(ALG6):c.816+14C>A
|
|
|
NM_013339.4(ALG6):c.816+16T>C
|
|
|
NM_013339.4(ALG6):c.816+18C>A
|
rs2100421763
|
|
NM_013339.4(ALG6):c.816+19C>T
|
|
|
NM_013339.4(ALG6):c.816+4T>G
|
|
|
NM_013339.4(ALG6):c.816+8T>A
|
|
|
NM_013339.4(ALG6):c.817-8C>G
|
|
|
NM_013339.4(ALG6):c.82+12T>G
|
|
|
NM_013339.4(ALG6):c.82+13T>A
|
|
|
NM_013339.4(ALG6):c.82+17G>C
|
|
|
NM_013339.4(ALG6):c.82+18G>A
|
|
|
NM_013339.4(ALG6):c.82+1G>A
|
|
|
NM_013339.4(ALG6):c.82+7C>T
|
rs2100378518
|
|
NM_013339.4(ALG6):c.82+8A>G
|
|
|
NM_013339.4(ALG6):c.82+9T>G
|
|
|
NM_013339.4(ALG6):c.820A>T (p.Lys274Ter)
|
|
|
NM_013339.4(ALG6):c.823G>A (p.Val275Ile)
|
|
|
NM_013339.4(ALG6):c.826G>A (p.Ala276Thr)
|
|
|
NM_013339.4(ALG6):c.82_82+8del
|
rs1424742651
|
|
NM_013339.4(ALG6):c.83-20C>A
|
|
|
NM_013339.4(ALG6):c.83-8G>T
|
|
|
NM_013339.4(ALG6):c.83-9T>G
|
|
|
NM_013339.4(ALG6):c.830A>G (p.Asn277Ser)
|
|
|
NM_013339.4(ALG6):c.835del (p.Trp279fs)
|
rs2100423312
|
|
NM_013339.4(ALG6):c.843C>T (p.Ser281=)
|
|
|
NM_013339.4(ALG6):c.846C>G (p.Phe282Leu)
|
|
|
NM_013339.4(ALG6):c.849del (p.Asn283fs)
|
rs1644530448
|
|
NM_013339.4(ALG6):c.852C>G (p.Val284=)
|
rs912739738
|
|
NM_013339.4(ALG6):c.857T>G (p.Leu286Arg)
|
|
|
NM_013339.4(ALG6):c.864T>A (p.Ile288=)
|
|
|
NM_013339.4(ALG6):c.867G>A (p.Lys289=)
|
|
|
NM_013339.4(ALG6):c.879A>G (p.Pro293=)
|
rs2100423371
|
|
NM_013339.4(ALG6):c.87T>C (p.Ala29=)
|
rs2100404896
|
|
NM_013339.4(ALG6):c.880C>T (p.Arg294Cys)
|
|
|
NM_013339.4(ALG6):c.885C>T (p.His295=)
|
rs1271043295
|
|
NM_013339.4(ALG6):c.888C>T (p.Ile296=)
|
rs2100423389
|
|
NM_013339.4(ALG6):c.889C>T (p.Gln297Ter)
|
|
|
NM_013339.4(ALG6):c.892T>C (p.Leu298=)
|
|
|
NM_013339.4(ALG6):c.893T>A (p.Leu298Ter)
|
|
|
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)
|
rs387906338
|
|
NM_013339.4(ALG6):c.902+11_902+14del
|
rs2100423419
|
|
NM_013339.4(ALG6):c.902+12A>T
|
|
|
NM_013339.4(ALG6):c.902+13A>G
|
|
|
NM_013339.4(ALG6):c.902+2dup
|
|
|
NM_013339.4(ALG6):c.902+7G>T
|
rs372337207
|
|
NM_013339.4(ALG6):c.903-11T>G
|
|
|
NM_013339.4(ALG6):c.903-16T>C
|
|
|
NM_013339.4(ALG6):c.903-20G>T
|
rs756370228
|
|
NM_013339.4(ALG6):c.903-4T>C
|
rs2100425042
|
|
NM_013339.4(ALG6):c.903-7T>C
|
|
|
NM_013339.4(ALG6):c.903-8T>C
|
|
|
NM_013339.4(ALG6):c.915G>C (p.Thr305=)
|
rs112769742
|
|
NM_013339.4(ALG6):c.915G>T (p.Thr305=)
|
rs112769742
|
|
NM_013339.4(ALG6):c.919T>C (p.Leu307=)
|
|
|
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter)
|
rs1644543791
|
|
NM_013339.4(ALG6):c.924C>A (p.Ser308Arg)
|
|
|
NM_013339.4(ALG6):c.927G>C (p.Leu309=)
|
rs2100425098
|
|
NM_013339.4(ALG6):c.940A>G (p.Ile314Val)
|
|
|
NM_013339.4(ALG6):c.946T>C (p.Leu316=)
|
rs2100425118
|
|
NM_013339.4(ALG6):c.947T>G (p.Leu316Ter)
|
|
|
NM_013339.4(ALG6):c.947_950del (p.Leu316fs)
|
|
|
NM_013339.4(ALG6):c.960C>T (p.Pro320=)
|
|
|
NM_013339.4(ALG6):c.964T>G (p.Ser322Ala)
|
|
|
NM_013339.4(ALG6):c.974_984del (p.Phe325fs)
|
|
|
NM_013339.4(ALG6):c.984A>C (p.Thr328=)
|
|
|
NM_013339.4(ALG6):c.984A>G (p.Thr328=)
|
|
|
NM_013339.4(ALG6):c.985C>T (p.Leu329=)
|
rs1422218414
|
|
NM_013339.4(ALG6):c.987+11C>A
|
rs1557592881
|
|
NM_013339.4(ALG6):c.987+14T>C
|
|
|
NM_013339.4(ALG6):c.987+1G>T
|
|
|
NM_013339.4(ALG6):c.987G>A (p.Leu329=)
|
|
|
NM_013339.4(ALG6):c.988-13T>G
|
|
|
NM_013339.4(ALG6):c.988-14C>T
|
|
|
NM_013339.4(ALG6):c.988-14_988-13del
|
|
|
NM_013339.4(ALG6):c.988-14del
|
|
|
NM_013339.4(ALG6):c.988-15C>A
|
|
|
NM_013339.4(ALG6):c.988-16C>A
|
|
|
NM_013339.4(ALG6):c.988-16C>T
|
|
|
NM_013339.4(ALG6):c.988-18C>T
|
|
|
NM_013339.4(ALG6):c.988-1G>A
|
rs781473515
|
|
NM_013339.4(ALG6):c.988-5T>C
|
|
|
NM_013339.4(ALG6):c.988-7C>A
|
|
|
NM_013339.4(ALG6):c.988-7dup
|
|
|
NM_013339.4(ALG6):c.988-8T>C
|
rs1644561783
|
|
NM_013339.4(ALG6):c.988-8dup
|
rs779365053
|
|
NM_013339.4(ALG6):c.988G>T (p.Val330Phe)
|
rs1057518724
|
|
NM_013339.4(ALG6):c.999G>C (p.Ala333=)
|
|
|
NM_013339.4(ALG6):c.999G>T (p.Ala333=)
|
|
|
NM_013339.4(ALG6):c.9A>G (p.Lys3=)
|
rs2100378404
|
|