ClinVar Miner

List of variants in gene ALG6 studied for ALG6-congenital disorder of glycosylation 1C

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 746
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HGVS dbSNP gnomAD frequency
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_013339.4(ALG6):c.*761T>C rs3009572 0.60642
NM_013339.4(ALG6):c.494+74A>G rs6588028 0.59727
NM_013339.4(ALG6):c.347-107A>G rs1012872 0.35960
NM_013339.4(ALG6):c.-136C>G rs34542411 0.20060
NM_013339.4(ALG6):c.430-133T>C rs12755065 0.17504
NM_013339.4(ALG6):c.1058+111T>G rs4550089 0.16476
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 0.02229
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367 0.02127
NM_013339.4(ALG6):c.678G>T (p.Lys226Asn) rs35604168 0.01377
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val) rs41285372 0.01295
NM_013339.4(ALG6):c.*268C>T rs114111123 0.01131
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 0.00780
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00763
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 0.00402
NM_013339.4(ALG6):c.-207-12T>C rs183861757 0.00184
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 0.00022
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.168-17C>G rs536808870 0.00015
NM_013339.4(ALG6):c.1361C>T (p.Thr454Met) rs138890428 0.00012
NM_013339.4(ALG6):c.370T>G (p.Tyr124Asp) rs562509297 0.00011
NM_013339.4(ALG6):c.1032T>C (p.His344=) rs146265933 0.00010
NM_013339.4(ALG6):c.915G>A (p.Thr305=) rs112769742 0.00009
NM_013339.4(ALG6):c.96G>A (p.Pro32=) rs149990175 0.00009
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.*670G>A rs367589530 0.00007
NM_013339.4(ALG6):c.1442A>G (p.Asn481Ser) rs139521934 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.816+10A>T rs529032571 0.00007
NM_013339.4(ALG6):c.-141A>G rs1054104046 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.246A>T (p.Leu82=) rs112029121 0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_013339.4(ALG6):c.665G>A (p.Gly222Asp) rs532466353 0.00006
NM_013339.4(ALG6):c.*1313T>C rs372013109 0.00005
NM_013339.4(ALG6):c.*454C>T rs903370494 0.00005
NM_013339.4(ALG6):c.1002A>G (p.Leu334=) rs377647534 0.00005
NM_013339.4(ALG6):c.1159C>T (p.Leu387=) rs754054503 0.00005
NM_013339.4(ALG6):c.167+7T>C rs374146302 0.00005
NM_013339.4(ALG6):c.36A>C (p.Leu12Phe) rs151277583 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.1341C>T (p.Val447=) rs777326636 0.00004
NM_013339.4(ALG6):c.1362G>A (p.Thr454=) rs767257355 0.00004
NM_013339.4(ALG6):c.1496G>A (p.Ser499Asn) rs201811893 0.00004
NM_013339.4(ALG6):c.156G>A (p.Pro52=) rs751004049 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.*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.1436G>T (p.Cys479Phe) rs148662517 0.00003
NM_013339.4(ALG6):c.19A>G (p.Met7Val) rs1463958522 0.00003
NM_013339.4(ALG6):c.256G>A (p.Val86Met) rs537735680 0.00003
NM_013339.4(ALG6):c.282G>T (p.Trp94Cys) rs201854537 0.00003
NM_013339.4(ALG6):c.4G>A (p.Glu2Lys) rs140944848 0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716 0.00003
NM_013339.4(ALG6):c.656T>C (p.Phe219Ser) rs768216435 0.00003
NM_013339.4(ALG6):c.669C>T (p.Leu223=) rs377089305 0.00003
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg) rs140879997 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.999G>A (p.Ala333=) rs375487839 0.00003
NM_013339.4(ALG6):c.1056A>G (p.Ser352=) rs371100177 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.1327-15T>C rs758629732 0.00002
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs) rs774242915 0.00002
NM_013339.4(ALG6):c.1399C>T (p.Pro467Ser) rs752244400 0.00002
NM_013339.4(ALG6):c.1400C>T (p.Pro467Leu) rs548994709 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.288T>C (p.Ala96=) rs1048077663 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.419C>T (p.Thr140Ile) rs764447723 0.00002
NM_013339.4(ALG6):c.494+15T>C rs777671830 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.816+16T>C rs774373539 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.95C>T (p.Pro32Leu) rs770413804 0.00002
NM_013339.4(ALG6):c.987+12A>G rs758406155 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.100A>G (p.Met34Val) rs1557585842 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.1031A>G (p.His344Arg) rs759123745 0.00001
NM_013339.4(ALG6):c.1033G>C (p.Glu345Gln) rs142707911 0.00001
NM_013339.4(ALG6):c.1041C>G (p.Ser347=) rs1315652403 0.00001
NM_013339.4(ALG6):c.104T>C (p.Phe35Ser) rs1450453413 0.00001
NM_013339.4(ALG6):c.1051G>A (p.Val351Met) rs1644562337 0.00001
NM_013339.4(ALG6):c.1058+16T>G rs2523768485 0.00001
NM_013339.4(ALG6):c.1059-7A>C rs769414669 0.00001
NM_013339.4(ALG6):c.1059-8G>T rs755900020 0.00001
NM_013339.4(ALG6):c.1060C>T (p.Pro354Ser) rs1039074857 0.00001
NM_013339.4(ALG6):c.1061C>T (p.Pro354Leu) rs763303967 0.00001
NM_013339.4(ALG6):c.1092T>C (p.Phe364=) rs751867296 0.00001
NM_013339.4(ALG6):c.1097C>T (p.Ser366Phe) rs1428112706 0.00001
NM_013339.4(ALG6):c.1116G>A (p.Val372=) rs774866544 0.00001
NM_013339.4(ALG6):c.1121C>T (p.Thr374Ile) rs750443322 0.00001
NM_013339.4(ALG6):c.1127+12C>A rs539762580 0.00001
NM_013339.4(ALG6):c.1127+20A>G rs2523793519 0.00001
NM_013339.4(ALG6):c.1128-11T>C rs760830321 0.00001
NM_013339.4(ALG6):c.1128-15A>C rs1453237491 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.1161A>G (p.Leu387=) rs2523793886 0.00001
NM_013339.4(ALG6):c.1173T>G (p.Val391=) rs759859422 0.00001
NM_013339.4(ALG6):c.1200T>C (p.Ala400=) rs780988843 0.00001
NM_013339.4(ALG6):c.123G>A (p.Gln41=) rs1648831785 0.00001
NM_013339.4(ALG6):c.1272T>A (p.Ser424=) rs768166804 0.00001
NM_013339.4(ALG6):c.1275G>A (p.Val425=) rs1455501558 0.00001
NM_013339.4(ALG6):c.1291T>G (p.Cys431Gly) rs376292789 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.1327-5T>G rs1018529096 0.00001
NM_013339.4(ALG6):c.1346C>G (p.Thr449Ser) rs552078516 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.137A>G (p.Glu46Gly) rs559219690 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.1508A>G (p.Gln503Arg) rs1056967570 0.00001
NM_013339.4(ALG6):c.151T>A (p.Leu51Ile) rs758344353 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.168-15T>A rs1213992277 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.226dup (p.Thr76fs) rs1644468733 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.257+19A>T rs1644469040 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.301C>T (p.Arg101Cys) rs773328749 0.00001
NM_013339.4(ALG6):c.302G>A (p.Arg101His) rs760245924 0.00001
NM_013339.4(ALG6):c.303T>A (p.Arg101=) rs1644480981 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.346+5A>G rs1362437910 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.409G>T (p.Glu137Ter) rs2100417039 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.429+9T>C rs1644489994 0.00001
NM_013339.4(ALG6):c.430-3C>T rs549094888 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.44T>A (p.Leu15Gln) rs1647907578 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.495-14T>G rs1434021697 0.00001
NM_013339.4(ALG6):c.495-2A>G rs1227131990 0.00001
NM_013339.4(ALG6):c.495-6G>A rs1322205285 0.00001
NM_013339.4(ALG6):c.495A>G (p.Gln165=) rs886046471 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.553T>C (p.Cys185Arg) rs541553019 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.619G>A (p.Ala207Thr) rs756038267 0.00001
NM_013339.4(ALG6):c.630T>C (p.Phe210=) rs1231951186 0.00001
NM_013339.4(ALG6):c.63G>A (p.Val21=) rs1647908648 0.00001
NM_013339.4(ALG6):c.648C>G (p.Gly216=) rs1270440540 0.00001
NM_013339.4(ALG6):c.677A>T (p.Lys226Met) rs367881610 0.00001
NM_013339.4(ALG6):c.680+11T>G rs766961482 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.680+4A>G rs1397452203 0.00001
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206 0.00001
NM_013339.4(ALG6):c.681-17C>G rs185148397 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.707G>A (p.Cys236Tyr) rs771479098 0.00001
NM_013339.4(ALG6):c.712G>A (p.Val238Ile) rs769947380 0.00001
NM_013339.4(ALG6):c.732C>T (p.Leu244=) rs528739746 0.00001
NM_013339.4(ALG6):c.735C>T (p.Cys245=) rs1193951173 0.00001
NM_013339.4(ALG6):c.794C>T (p.Pro265Leu) rs771364886 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.817-8C>G rs2523755423 0.00001
NM_013339.4(ALG6):c.828C>G (p.Ala276=) rs1325407009 0.00001
NM_013339.4(ALG6):c.83-8G>T rs371057475 0.00001
NM_013339.4(ALG6):c.862A>G (p.Ile288Val) rs557790186 0.00001
NM_013339.4(ALG6):c.867G>A (p.Lys289=) rs1267437688 0.00001
NM_013339.4(ALG6):c.880C>T (p.Arg294Cys) rs748327731 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.903-11T>G rs1252794449 0.00001
NM_013339.4(ALG6):c.903-13A>G rs190744579 0.00001
NM_013339.4(ALG6):c.903-16T>C rs375187126 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.921G>A (p.Leu307=) rs572008178 0.00001
NM_013339.4(ALG6):c.925C>T (p.Leu309=) rs1311428677 0.00001
NM_013339.4(ALG6):c.988-14C>T rs778293076 0.00001
NM_013339.4(ALG6):c.988-16C>T rs758927360 0.00001
NM_013339.4(ALG6):c.988-18C>T rs765588127 0.00001
NM_013339.4(ALG6):c.988-5T>C rs2523768248 0.00001
NM_013339.4(ALG6):c.997G>C (p.Ala333Pro) rs1212125571 0.00001
NM_013339.4(ALG6):c.9A>G (p.Lys3=) rs2100378404 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.*89G>A rs531808380
NM_013339.4(ALG6):c.1000C>T (p.Leu334=) rs2523768301
NM_013339.4(ALG6):c.1000delinsGG (p.Leu334fs) rs2523768305
NM_013339.4(ALG6):c.1005A>C (p.Ser335=) rs146094200
NM_013339.4(ALG6):c.1005A>T (p.Ser335=) rs146094200
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.100_101del (p.Met34fs) rs1648830820
NM_013339.4(ALG6):c.1011T>C (p.Phe337=) rs2100428006
NM_013339.4(ALG6):c.1013T>A (p.Leu338Ter) rs2523768354
NM_013339.4(ALG6):c.1013del (p.Leu338fs) rs2523768344
NM_013339.4(ALG6):c.1018del (p.Ser340fs) rs1269984067
NM_013339.4(ALG6):c.1029dup (p.His344fs) rs2523768384
NM_013339.4(ALG6):c.1047C>T (p.Leu349=) rs2100428058
NM_013339.4(ALG6):c.1048T>C (p.Leu350=) rs1644562331
NM_013339.4(ALG6):c.1051G>T (p.Val351Leu) rs1644562337
NM_013339.4(ALG6):c.1058+16del rs1355283983
NM_013339.4(ALG6):c.1058+19A>C rs2523768490
NM_013339.4(ALG6):c.1058+1G>A rs2523768434
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 rs2523793266
NM_013339.4(ALG6):c.1059-4T>G rs2523793286
NM_013339.4(ALG6):c.1059-7A>G rs769414669
NM_013339.4(ALG6):c.1059-8G>A rs755900020
NM_013339.4(ALG6):c.1059-8G>C
NM_013339.4(ALG6):c.1066T>C (p.Cys356Arg) rs2523793311
NM_013339.4(ALG6):c.1072_1076del (p.Val358fs) rs2523793326
NM_013339.4(ALG6):c.1075T>G (p.Leu359Val) rs1260829753
NM_013339.4(ALG6):c.1076T>A (p.Leu359Ter) rs2523793339
NM_013339.4(ALG6):c.1077A>G (p.Leu359=)
NM_013339.4(ALG6):c.107G>A (p.Gly36Asp) rs1487950418
NM_013339.4(ALG6):c.1087C>A (p.Pro363Thr) rs952006163
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) rs748022092
NM_013339.4(ALG6):c.1116G>T (p.Val372=) rs774866544
NM_013339.4(ALG6):c.1125T>G (p.Phe375Leu) rs2523793495
NM_013339.4(ALG6):c.1127+11T>C rs1436987592
NM_013339.4(ALG6):c.1127+14A>G rs1644630441
NM_013339.4(ALG6):c.1127+18C>G rs371722035
NM_013339.4(ALG6):c.1127+1G>A rs1557597486
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.1128-19T>A rs1204018772
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 rs1192591598
NM_013339.4(ALG6):c.1128-9C>T rs2100440607
NM_013339.4(ALG6):c.1134A>C (p.Leu378=) rs2523793822
NM_013339.4(ALG6):c.1134A>G (p.Leu378=) rs2523793822
NM_013339.4(ALG6):c.1136del (p.Pro379fs) rs1553156884
NM_013339.4(ALG6):c.1137T>A (p.Pro379=) rs1374157245
NM_013339.4(ALG6):c.1144T>C (p.Leu382=) rs2523793854
NM_013339.4(ALG6):c.114T>G (p.Tyr38Ter) rs1648831627
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=) rs2523794224
NM_013339.4(ALG6):c.1192T>C (p.Phe398Leu) rs2523794231
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=) rs1405037600
NM_013339.4(ALG6):c.1204G>A (p.Val402Ile) rs1212756714
NM_013339.4(ALG6):c.1206A>G (p.Val402=) rs2523794280
NM_013339.4(ALG6):c.121C>T (p.Gln41Ter) rs759308812
NM_013339.4(ALG6):c.1227A>G (p.Glu409=) rs1478731078
NM_013339.4(ALG6):c.1228_1229del (p.Lys410fs) rs2523794331
NM_013339.4(ALG6):c.1237GAA[2] (p.Glu415del) rs773295759
NM_013339.4(ALG6):c.1242A>G (p.Glu414=) rs2523794356
NM_013339.4(ALG6):c.1246_1250del (p.Leu416fs) rs1644631895
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=) rs2523794410
NM_013339.4(ALG6):c.1260C>A (p.Ser420=) rs1557597618
NM_013339.4(ALG6):c.1260C>T (p.Ser420=) rs1557597618
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.1281A>G (p.Lys427=) rs2523794552
NM_013339.4(ALG6):c.1290A>G (p.Pro430=) rs1380497177
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) rs752858908
NM_013339.4(ALG6):c.1303C>A (p.Leu435Ile) rs2100440869
NM_013339.4(ALG6):c.1307C>A (p.Ser436Tyr) rs773786211
NM_013339.4(ALG6):c.1308del (p.Arg437fs) rs2523794684
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.131G>A (p.Trp44Ter)
NM_013339.4(ALG6):c.1325T>C (p.Leu442Ser) rs2100440907
NM_013339.4(ALG6):c.1326+10A>G rs2523794765
NM_013339.4(ALG6):c.1326+1G>A rs1475789647
NM_013339.4(ALG6):c.1326+1G>T rs1475789647
NM_013339.4(ALG6):c.1326+2dup rs2523794753
NM_013339.4(ALG6):c.1326+8C>G rs2100440914
NM_013339.4(ALG6):c.1326+8C>T rs2100440914
NM_013339.4(ALG6):c.1327-12T>C rs2523810954
NM_013339.4(ALG6):c.1327-13T>C rs778302658
NM_013339.4(ALG6):c.1327-16C>A rs1479573763
NM_013339.4(ALG6):c.1327-17C>T rs2523810917
NM_013339.4(ALG6):c.1327-20A>C
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) rs2523811043
NM_013339.4(ALG6):c.1344C>T (p.Ile448=) rs2523811048
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) rs2523811120
NM_013339.4(ALG6):c.1371T>C (p.Thr457=) rs2523811133
NM_013339.4(ALG6):c.1372_1373del (p.Val458fs) rs2523811137
NM_013339.4(ALG6):c.1376C>T (p.Thr459Ile)
NM_013339.4(ALG6):c.1386T>C (p.Pro462=) rs1644682042
NM_013339.4(ALG6):c.138A>G (p.Glu46=) rs2523706609
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=) rs2523811290
NM_013339.4(ALG6):c.1429G>C (p.Val477Leu) rs747356051
NM_013339.4(ALG6):c.1431A>G (p.Val477=)
NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro) rs121908444
NM_013339.4(ALG6):c.1438T>C (p.Leu480=)
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=) rs1644682453
NM_013339.4(ALG6):c.144T>A (p.Thr48=) rs2523706618
NM_013339.4(ALG6):c.1456T>C (p.Leu486=) rs1274029656
NM_013339.4(ALG6):c.1458G>C (p.Leu486Phe) rs1468161555
NM_013339.4(ALG6):c.1467T>C (p.Phe489=) rs2523811415
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) rs756566938
NM_013339.4(ALG6):c.1481T>C (p.Met494Thr) rs766169939
NM_013339.4(ALG6):c.1490C>A (p.Ser497Tyr) rs2523811495
NM_013339.4(ALG6):c.1501A>G (p.Arg501Gly) rs1644682851
NM_013339.4(ALG6):c.1506T>C (p.Asn502=) rs2523811525
NM_013339.4(ALG6):c.1509G>A (p.Gln503=) rs368314781
NM_013339.4(ALG6):c.150T>C (p.Asn50=) rs752563803
NM_013339.4(ALG6):c.1524G>A (p.Ter508=) rs2523811542
NM_013339.4(ALG6):c.154C>T (p.Pro52Ser) rs2523706655
NM_013339.4(ALG6):c.15C>T (p.Tyr5=) rs1160519305
NM_013339.4(ALG6):c.167+14A>G rs2523706734
NM_013339.4(ALG6):c.167+15A>G rs780696397
NM_013339.4(ALG6):c.167+19G>C rs1246184334
NM_013339.4(ALG6):c.167+5G>A rs1557585860
NM_013339.4(ALG6):c.167+7del rs2523706723
NM_013339.4(ALG6):c.167+8A>G rs902593542
NM_013339.4(ALG6):c.168-10dup
NM_013339.4(ALG6):c.168-1G>A rs2523723184
NM_013339.4(ALG6):c.168-2A>G
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) rs2523723187
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=) rs780528545
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) rs1330438032
NM_013339.4(ALG6):c.180C>G (p.Ser60Arg) rs2523723215
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.201T>C (p.Tyr67=) rs2100412804
NM_013339.4(ALG6):c.208T>C (p.Leu70=) rs748752494
NM_013339.4(ALG6):c.20T>C (p.Met7Thr) rs2523646252
NM_013339.4(ALG6):c.218C>T (p.Pro73Leu) rs2100412827
NM_013339.4(ALG6):c.227C>T (p.Thr76Ile) rs773292757
NM_013339.4(ALG6):c.228A>G (p.Thr76=)
NM_013339.4(ALG6):c.230_238delinsTCTCCTAT (p.Ala77fs) rs2523723537
NM_013339.4(ALG6):c.232del (p.Tyr78fs) rs2523723541
NM_013339.4(ALG6):c.234T>C (p.Tyr78=) rs2523723561
NM_013339.4(ALG6):c.235_237del (p.His79del) rs1297610094
NM_013339.4(ALG6):c.236A>T (p.His79Leu) rs1644468789
NM_013339.4(ALG6):c.23C>G (p.Thr8Arg) rs2523646265
NM_013339.4(ALG6):c.246A>C (p.Leu82=) rs112029121
NM_013339.4(ALG6):c.246A>G (p.Leu82=) rs112029121
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.257+10del rs771569657
NM_013339.4(ALG6):c.257+14del rs2523723668
NM_013339.4(ALG6):c.257+17T>C rs1465585726
NM_013339.4(ALG6):c.257+2T>C rs1644468935
NM_013339.4(ALG6):c.258-13C>G rs2523729604
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 rs2523729581
NM_013339.4(ALG6):c.258-18A>G rs2523729581
NM_013339.4(ALG6):c.258-19T>C rs1036781607
NM_013339.4(ALG6):c.258-2A>C rs2100415367
NM_013339.4(ALG6):c.258-3C>T rs2523729653
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>A
NM_013339.4(ALG6):c.258-9G>T rs771058506
NM_013339.4(ALG6):c.258-9_267del rs2100415350
NM_013339.4(ALG6):c.262A>T (p.Lys88Ter)
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=) rs1647907073
NM_013339.4(ALG6):c.281G>A (p.Trp94Ter) rs1644480834
NM_013339.4(ALG6):c.285_286insTATAAACTTT (p.Ala96fs) rs2523729722
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.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) rs2523729846
NM_013339.4(ALG6):c.327G>A (p.Lys109=) rs1389168920
NM_013339.4(ALG6):c.338G>T (p.Arg113Leu) rs768372697
NM_013339.4(ALG6):c.346+11A>G rs1293408307
NM_013339.4(ALG6):c.346+12A>G rs372795602
NM_013339.4(ALG6):c.346+13T>C rs2523729969
NM_013339.4(ALG6):c.346+15G>T rs2523729976
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 rs2523729988
NM_013339.4(ALG6):c.346+20T>C rs2523729993
NM_013339.4(ALG6):c.346+6dup rs1458895392
NM_013339.4(ALG6):c.346+7G>C rs1159085775
NM_013339.4(ALG6):c.346+8A>G rs1644481328
NM_013339.4(ALG6):c.347-14A>C rs2523734673
NM_013339.4(ALG6):c.347-17T>C rs1644489549
NM_013339.4(ALG6):c.347-2A>G rs2523734922
NM_013339.4(ALG6):c.350T>A (p.Leu117Ter) rs2523734931
NM_013339.4(ALG6):c.352del (p.Ile118fs) rs2523734936
NM_013339.4(ALG6):c.390G>T (p.Leu130Phe) rs961740482
NM_013339.4(ALG6):c.399T>A (p.Cys133Ter) rs1644489808
NM_013339.4(ALG6):c.408del (p.Glu137fs)
NM_013339.4(ALG6):c.410A>T (p.Glu137Val) rs2523735568
NM_013339.4(ALG6):c.415T>C (p.Ser139Pro) rs2523735576
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 rs781097055
NM_013339.4(ALG6):c.429+2T>C rs1270337982
NM_013339.4(ALG6):c.429+2T>G rs1270337982
NM_013339.4(ALG6):c.429+5G>A
NM_013339.4(ALG6):c.429G>A (p.Lys143=) rs193223712
NM_013339.4(ALG6):c.430-10G>C rs2100417529
NM_013339.4(ALG6):c.430-18C>T rs1251114729
NM_013339.4(ALG6):c.430-19A>G rs2523737375
NM_013339.4(ALG6):c.430-2A>G rs1553155565
NM_013339.4(ALG6):c.431T>C (p.Ile144Thr) rs1644492705
NM_013339.4(ALG6):c.434C>G (p.Ala145Gly) rs2523737427
NM_013339.4(ALG6):c.435T>A (p.Ala145=) rs370351088
NM_013339.4(ALG6):c.442T>C (p.Leu148=) rs2523737442
NM_013339.4(ALG6):c.443dup (p.Leu148fs) rs2523737446
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.450C>A (p.Ile150=) rs1644492796
NM_013339.4(ALG6):c.452del (p.Leu151fs) rs1349358854
NM_013339.4(ALG6):c.454C>T (p.Leu152=) rs2523737490
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) rs1644493063
NM_013339.4(ALG6):c.493del (p.Gln165fs) rs2523737978
NM_013339.4(ALG6):c.494+2T>C
NM_013339.4(ALG6):c.495-10A>C rs2523747768
NM_013339.4(ALG6):c.495-2A>T rs1227131990
NM_013339.4(ALG6):c.495-8A>G rs2100420744
NM_013339.4(ALG6):c.498T>G (p.Tyr166Ter) rs2523747807
NM_013339.4(ALG6):c.504T>C (p.Ser168=) rs2523747819
NM_013339.4(ALG6):c.506_507del (p.Val169fs) rs1274913587
NM_013339.4(ALG6):c.506dup (p.Ser170fs)
NM_013339.4(ALG6):c.507G>A (p.Val169=) rs1357791936
NM_013339.4(ALG6):c.510T>C (p.Ser170=) rs2523747839
NM_013339.4(ALG6):c.519T>C (p.Phe173=)
NM_013339.4(ALG6):c.51A>C (p.Val17=) rs2100378459
NM_013339.4(ALG6):c.527G>A (p.Trp176Ter) rs773699560
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) rs2523747951
NM_013339.4(ALG6):c.546T>C (p.Ser182=) rs762983061
NM_013339.4(ALG6):c.546T>G (p.Ser182=) rs762983061
NM_013339.4(ALG6):c.548G>A (p.Cys183Tyr) rs1644514064
NM_013339.4(ALG6):c.552C>T (p.Asp184=) rs1644514155
NM_013339.4(ALG6):c.561C>T (p.Leu187=) rs2100420841
NM_013339.4(ALG6):c.562C>T (p.Leu188=) rs2523748027
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) rs2523646410
NM_013339.4(ALG6):c.581G>A (p.Cys194Tyr)
NM_013339.4(ALG6):c.597T>C (p.Tyr199=) rs2100420873
NM_013339.4(ALG6):c.600A>G (p.Lys200=) rs1000747367
NM_013339.4(ALG6):c.602A>G (p.Gln201Arg) rs1644514423
NM_013339.4(ALG6):c.604A>G (p.Met202Val) rs757012140
NM_013339.4(ALG6):c.604A>T (p.Met202Leu) rs757012140
NM_013339.4(ALG6):c.60A>G (p.Thr20=) rs1263563063
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=) rs1644514534
NM_013339.4(ALG6):c.625C>T (p.Pro209Ser) rs530113520
NM_013339.4(ALG6):c.627A>G (p.Pro209=)
NM_013339.4(ALG6):c.628T>G (p.Phe210Val) rs748777354
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=) rs1413129030
NM_013339.4(ALG6):c.63G>T (p.Val21=) rs1647908648
NM_013339.4(ALG6):c.642del (p.Leu214fs) rs2523748328
NM_013339.4(ALG6):c.651G>A (p.Lys217=) rs2100420950
NM_013339.4(ALG6):c.654T>A (p.Cys218Ter) rs1208389261
NM_013339.4(ALG6):c.657del (p.Phe219fs) rs2523748367
NM_013339.4(ALG6):c.658A>T (p.Lys220Ter) rs1644514822
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) rs964851138
NM_013339.4(ALG6):c.663dup (p.Gly222fs) rs964851138
NM_013339.4(ALG6):c.665_669dup (p.Lys224fs) rs2523748412
NM_013339.4(ALG6):c.670A>T (p.Lys224Ter) rs2523748430
NM_013339.4(ALG6):c.680+10T>C rs2523748545
NM_013339.4(ALG6):c.680+12T>C rs777324596
NM_013339.4(ALG6):c.680+19C>T rs765412846
NM_013339.4(ALG6):c.680+1G>T rs1253289234
NM_013339.4(ALG6):c.680+1del rs1644514998
NM_013339.4(ALG6):c.680+8del rs2523748544
NM_013339.4(ALG6):c.681-16T>G rs2523750146
NM_013339.4(ALG6):c.681-17C>A rs185148397
NM_013339.4(ALG6):c.681-18C>G rs1184314485
NM_013339.4(ALG6):c.681-19A>C rs2523750133
NM_013339.4(ALG6):c.681-1G>T rs2523750197
NM_013339.4(ALG6):c.681-3del rs763183173
NM_013339.4(ALG6):c.681-4_681-3insGTTTTTTTGTTTGTTT rs1644518286
NM_013339.4(ALG6):c.681-5T>G rs778405436
NM_013339.4(ALG6):c.681-6T>G rs2523750177
NM_013339.4(ALG6):c.682T>C (p.Phe228Leu) rs2523750199
NM_013339.4(ALG6):c.684del (p.Phe228fs) rs2100421533
NM_013339.4(ALG6):c.692T>C (p.Leu231Pro) rs1644518425
NM_013339.4(ALG6):c.699G>A (p.Lys233=) rs1310450217
NM_013339.4(ALG6):c.6G>T (p.Glu2Asp) rs2523646147
NM_013339.4(ALG6):c.705T>C (p.Ala235=)
NM_013339.4(ALG6):c.711TGT[1] (p.Val239del) rs766307079
NM_013339.4(ALG6):c.714T>C (p.Val238=) rs1644518550
NM_013339.4(ALG6):c.714del (p.Val239fs) rs2523750296
NM_013339.4(ALG6):c.720T>G (p.Ala240=) rs2100421596
NM_013339.4(ALG6):c.723C>G (p.Ser241=) rs763134964
NM_013339.4(ALG6):c.723del (p.Phe242fs) rs755112036
NM_013339.4(ALG6):c.726C>G (p.Phe242Leu) rs59848367
NM_013339.4(ALG6):c.728T>C (p.Val243Ala) rs886046472
NM_013339.4(ALG6):c.731T>A (p.Leu244His) rs112310201
NM_013339.4(ALG6):c.732_748dup (p.Phe250fs) rs1553155823
NM_013339.4(ALG6):c.737G>A (p.Trp246Ter) rs2523750391
NM_013339.4(ALG6):c.737_738delinsC (p.Trp246fs)
NM_013339.4(ALG6):c.738G>A (p.Trp246Ter) rs997338018
NM_013339.4(ALG6):c.741G>T (p.Leu247=) rs1644518821
NM_013339.4(ALG6):c.742C>A (p.Pro248Thr) rs2523750406
NM_013339.4(ALG6):c.743C>T (p.Pro248Leu)
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=) rs2523750461
NM_013339.4(ALG6):c.771G>A (p.Leu257=) rs2100421694
NM_013339.4(ALG6):c.772C>T (p.Gln258Ter) rs2523750476
NM_013339.4(ALG6):c.774G>A (p.Gln258=) rs2523750482
NM_013339.4(ALG6):c.778C>G (p.Leu260Val) rs12733227
NM_013339.4(ALG6):c.780A>G (p.Leu260=) rs2523750491
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.796_799dup (p.Asp267delinsGlyTer) rs2100421727
NM_013339.4(ALG6):c.798T>C (p.Val266=) rs1644519075
NM_013339.4(ALG6):c.798_804dup (p.Gly269Ter) rs2523750633
NM_013339.4(ALG6):c.804T>C (p.Arg268=) rs1644519126
NM_013339.4(ALG6):c.816+11del rs1644519196
NM_013339.4(ALG6):c.816+12C>A rs2523750696
NM_013339.4(ALG6):c.816+14C>A rs2523750700
NM_013339.4(ALG6):c.816+18C>A rs2100421763
NM_013339.4(ALG6):c.816+19C>T rs1250830790
NM_013339.4(ALG6):c.816+4T>C rs762931650
NM_013339.4(ALG6):c.816+4T>G rs762931650
NM_013339.4(ALG6):c.816+8T>A rs1644519184
NM_013339.4(ALG6):c.819T>C (p.Asp273=)
NM_013339.4(ALG6):c.82+12T>G rs2523646494
NM_013339.4(ALG6):c.82+13T>A rs2523646496
NM_013339.4(ALG6):c.82+17G>C rs1282350471
NM_013339.4(ALG6):c.82+18G>A rs1234798604
NM_013339.4(ALG6):c.82+1G>A rs771618945
NM_013339.4(ALG6):c.82+7C>T rs2100378518
NM_013339.4(ALG6):c.82+8A>G rs772902612
NM_013339.4(ALG6):c.82+9T>G rs746703376
NM_013339.4(ALG6):c.820A>T (p.Lys274Ter) rs398124259
NM_013339.4(ALG6):c.823G>A (p.Val275Ile) rs1271387707
NM_013339.4(ALG6):c.826G>A (p.Ala276Thr) rs2523755449
NM_013339.4(ALG6):c.82_82+8del rs1424742651
NM_013339.4(ALG6):c.83-10_83-6del
NM_013339.4(ALG6):c.83-20C>A rs2523706436
NM_013339.4(ALG6):c.83-9T>G rs2523706445
NM_013339.4(ALG6):c.830A>G (p.Asn277Ser) rs2523755464
NM_013339.4(ALG6):c.835del (p.Trp279fs) rs2100423312
NM_013339.4(ALG6):c.843C>T (p.Ser281=) rs2523755496
NM_013339.4(ALG6):c.846C>G (p.Phe282Leu) rs1484642852
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) rs768557367
NM_013339.4(ALG6):c.864T>A (p.Ile288=) rs2523755593
NM_013339.4(ALG6):c.864dup (p.Lys289Ter)
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.885C>T (p.His295=) rs1271043295
NM_013339.4(ALG6):c.888C>T (p.Ile296=) rs2100423389
NM_013339.4(ALG6):c.889C>T (p.Gln297Ter) rs2523755663
NM_013339.4(ALG6):c.892T>C (p.Leu298=) rs2523755671
NM_013339.4(ALG6):c.893T>A (p.Leu298Ter) rs2523755672
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 rs2523755803
NM_013339.4(ALG6):c.902+13A>G rs1406026780
NM_013339.4(ALG6):c.902+15G>C
NM_013339.4(ALG6):c.902+2dup rs2523755782
NM_013339.4(ALG6):c.902+7G>T rs372337207
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 rs2523760523
NM_013339.4(ALG6):c.903-8T>C rs748201273
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=) rs2523760604
NM_013339.4(ALG6):c.91A>T (p.Lys31Ter)
NM_013339.4(ALG6):c.920T>A (p.Leu307Ter) rs1644543791
NM_013339.4(ALG6):c.924C>A (p.Ser308Arg) rs2523760621
NM_013339.4(ALG6):c.927G>C (p.Leu309=) rs2100425098
NM_013339.4(ALG6):c.940A>G (p.Ile314Val) rs1035429423
NM_013339.4(ALG6):c.946T>C (p.Leu316=) rs2100425118
NM_013339.4(ALG6):c.947T>G (p.Leu316Ter) rs1644543906
NM_013339.4(ALG6):c.947_950del (p.Leu316fs) rs2523760673
NM_013339.4(ALG6):c.960C>T (p.Pro320=) rs1021710355
NM_013339.4(ALG6):c.964T>G (p.Ser322Ala) rs2523760804
NM_013339.4(ALG6):c.974_984del (p.Phe325fs) rs2523760827
NM_013339.4(ALG6):c.984A>C (p.Thr328=) rs2523760849
NM_013339.4(ALG6):c.984A>G (p.Thr328=) rs2523760849
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 rs2523760900
NM_013339.4(ALG6):c.987+1G>T rs1644544168
NM_013339.4(ALG6):c.987G>A (p.Leu329=) rs2523760868
NM_013339.4(ALG6):c.988-13T>G rs751636326
NM_013339.4(ALG6):c.988-14_988-13del rs2523768228
NM_013339.4(ALG6):c.988-14del rs757939381
NM_013339.4(ALG6):c.988-15C>A rs943911984
NM_013339.4(ALG6):c.988-16C>A rs758927360
NM_013339.4(ALG6):c.988-17C>G
NM_013339.4(ALG6):c.988-1G>A rs781473515
NM_013339.4(ALG6):c.988-20C>G
NM_013339.4(ALG6):c.988-7C>A rs757341390
NM_013339.4(ALG6):c.988-7dup rs2523768246
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=) rs375487839
NM_013339.4(ALG6):c.999G>T (p.Ala333=) rs375487839

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