ClinVar Miner

List of variants in gene ALG1 studied for ALG1-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 602
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.741-111T>C rs2110339 0.96843
NM_019109.5(ALG1):c.391-24C>T rs4786590 0.94238
NM_019109.5(ALG1):c.630-55G>A rs7194217 0.94198
NM_019109.5(ALG1):c.540-111T>A rs11076869 0.94065
NM_019109.5(ALG1):c.1188-77G>T rs8056523 0.53440
NM_019109.5(ALG1):c.863-70C>T rs1846689 0.50015
NM_019109.5(ALG1):c.863-84G>A rs1846690 0.50001
NM_019109.5(ALG1):c.1149C>T (p.Phe383=) rs1047732 0.48295
NM_019109.5(ALG1):c.723C>T (p.His241=) rs7195893 0.07135
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_019109.5(ALG1):c.840G>C (p.Leu280=) rs12921879 0.04852
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys) rs112668461 0.01358
NM_019109.5(ALG1):c.1080G>A (p.Ala360=) rs143939207 0.00467
NM_019109.5(ALG1):c.334A>C (p.Met112Leu) rs113219939 0.00315
NM_019109.5(ALG1):c.539+16G>A rs189715949 0.00311
NM_019109.5(ALG1):c.867C>T (p.Asp289=) rs144029725 0.00265
NM_019109.5(ALG1):c.1092C>G (p.Val364=) rs113602091 0.00221
NM_019109.5(ALG1):c.1222C>T (p.Leu408=) rs149319732 0.00217
NM_019109.5(ALG1):c.8C>A (p.Ala3Asp) rs559805054 0.00096
NM_019109.5(ALG1):c.21C>T (p.Val7=) rs149388535 0.00093
NM_019109.5(ALG1):c.787C>T (p.Arg263Trp) rs145317306 0.00091
NM_019109.5(ALG1):c.766G>A (p.Glu256Lys) rs147412842 0.00081
NM_019109.5(ALG1):c.902-20G>A rs74249172 0.00059
NM_019109.5(ALG1):c.888G>A (p.Leu296=) rs577972473 0.00056
NM_019109.5(ALG1):c.991C>T (p.Arg331Cys) rs148933850 0.00052
NM_019109.5(ALG1):c.391-15C>G rs374836725 0.00046
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00045
NM_019109.5(ALG1):c.1089T>G (p.Gly363=) rs146526768 0.00036
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_019109.5(ALG1):c.769C>T (p.Arg257Trp) rs759843220 0.00031
NM_019109.5(ALG1):c.694C>T (p.Arg232Trp) rs148301670 0.00026
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr) rs143676440 0.00025
NM_019109.5(ALG1):c.540-13T>C rs201477967 0.00023
NM_019109.5(ALG1):c.480C>T (p.Gly160=) rs140674382 0.00020
NM_019109.5(ALG1):c.361A>C (p.Arg121=) rs149695050 0.00016
NM_019109.5(ALG1):c.477T>C (p.Tyr159=) rs145487895 0.00016
NM_019109.5(ALG1):c.629+20C>T rs371416008 0.00014
NM_019109.5(ALG1):c.1187+3A>G rs369160589 0.00013
NM_019109.5(ALG1):c.812C>T (p.Thr271Met) rs368722637 0.00012
NM_019109.5(ALG1):c.1066C>G (p.Leu356Val) rs569498428 0.00011
NM_019109.5(ALG1):c.284C>T (p.Ala95Val) rs368284764 0.00011
NM_019109.5(ALG1):c.384T>C (p.Phe128=) rs140626461 0.00011
NM_019109.5(ALG1):c.802G>A (p.Gly268Arg) rs148611855 0.00011
NM_019109.5(ALG1):c.540-12C>G rs200506548 0.00010
NM_019109.5(ALG1):c.863-15A>G rs371947976 0.00010
NM_019109.5(ALG1):c.815G>A (p.Arg272His) rs560302928 0.00009
NM_019109.5(ALG1):c.1263+16A>G rs373065015 0.00008
NM_019109.5(ALG1):c.391-11A>G rs767861344 0.00008
NM_019109.5(ALG1):c.457G>A (p.Val153Ile) rs750216032 0.00008
NM_019109.5(ALG1):c.1179C>G (p.Asn393Lys) rs537333921 0.00007
NM_019109.5(ALG1):c.965A>G (p.Lys322Arg) rs145851409 0.00007
NM_019109.5(ALG1):c.19G>A (p.Val7Ile) rs199891552 0.00006
NM_019109.5(ALG1):c.20T>G (p.Val7Gly) rs780711908 0.00006
NM_019109.5(ALG1):c.286+13C>G rs767857889 0.00006
NM_019109.5(ALG1):c.286+15A>C rs376062732 0.00006
NM_019109.5(ALG1):c.335T>C (p.Met112Thr) rs150943251 0.00006
NM_019109.5(ALG1):c.485C>T (p.Ser162Phe) rs755804171 0.00006
NM_019109.5(ALG1):c.728C>T (p.Pro243Leu) rs570334955 0.00006
NM_019109.5(ALG1):c.770G>A (p.Arg257Gln) rs763925138 0.00006
NM_019109.5(ALG1):c.962-6G>T rs769389896 0.00006
NM_019109.5(ALG1):c.993C>T (p.Arg331=) rs561385337 0.00006
NM_019109.5(ALG1):c.1188-4G>A rs530972149 0.00005
NM_019109.5(ALG1):c.522C>T (p.Leu174=) rs776753482 0.00005
NM_019109.5(ALG1):c.739C>T (p.Arg247Cys) rs749270254 0.00005
NM_019109.5(ALG1):c.758C>A (p.Pro253Gln) rs770327947 0.00005
NM_019109.5(ALG1):c.764C>T (p.Thr255Met) rs143906919 0.00005
NM_019109.5(ALG1):c.774G>C (p.Ser258=) rs757068692 0.00005
NM_019109.5(ALG1):c.1048G>A (p.Ala350Thr) rs138275657 0.00004
NM_019109.5(ALG1):c.1077G>A (p.Ser359=) rs564052127 0.00004
NM_019109.5(ALG1):c.1234G>A (p.Asp412Asn) rs200353530 0.00004
NM_019109.5(ALG1):c.212C>T (p.Ser71Phe) rs200605408 0.00004
NM_019109.5(ALG1):c.221A>T (p.His74Leu) rs201337379 0.00004
NM_019109.5(ALG1):c.304C>T (p.Gln102Ter) rs780107088 0.00004
NM_019109.5(ALG1):c.309C>T (p.Tyr103=) rs199553558 0.00004
NM_019109.5(ALG1):c.539+3G>C rs1040920105 0.00004
NM_019109.5(ALG1):c.545A>C (p.Glu182Ala) rs1011307139 0.00004
NM_019109.5(ALG1):c.639C>T (p.Thr213=) rs753164786 0.00004
NM_019109.5(ALG1):c.654C>T (p.Pro218=) rs375422039 0.00004
NM_019109.5(ALG1):c.682G>T (p.Asp228Tyr) rs145158686 0.00004
NM_019109.5(ALG1):c.715A>C (p.Ser239Arg) rs1373315673 0.00004
NM_019109.5(ALG1):c.741-13T>C rs368398266 0.00004
NM_019109.5(ALG1):c.814C>T (p.Arg272Cys) rs774593969 0.00004
NM_019109.5(ALG1):c.919C>G (p.Leu307Val) rs368735974 0.00004
NM_019109.5(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.286+10C>T rs371480769 0.00003
NM_019109.5(ALG1):c.539+15A>G rs777450873 0.00003
NM_019109.5(ALG1):c.560G>A (p.Arg187His) rs377600706 0.00003
NM_019109.5(ALG1):c.608T>C (p.Leu203Pro) rs777949225 0.00003
NM_019109.5(ALG1):c.629+11C>T rs776701190 0.00003
NM_019109.5(ALG1):c.648C>T (p.Asp216=) rs141455029 0.00003
NM_019109.5(ALG1):c.726T>C (p.Ser242=) rs780479533 0.00003
NM_019109.5(ALG1):c.821G>A (p.Arg274His) rs529013891 0.00003
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp) rs151173406 0.00003
NM_019109.5(ALG1):c.863A>G (p.Glu288Gly) rs776908571 0.00003
NM_019109.5(ALG1):c.880A>C (p.Ile294Leu) rs767003110 0.00003
NM_019109.5(ALG1):c.933C>A (p.Asn311Lys) rs776299417 0.00003
NM_019109.5(ALG1):c.961+19G>A rs768688738 0.00003
NM_019109.5(ALG1):c.1001A>G (p.His334Arg) rs756058300 0.00002
NM_019109.5(ALG1):c.1055A>T (p.Asp352Val) rs765238558 0.00002
NM_019109.5(ALG1):c.1187+1G>A rs374928784 0.00002
NM_019109.5(ALG1):c.1188-2A>G rs794727073 0.00002
NM_019109.5(ALG1):c.1250_1251insTG (p.Ala418fs) rs746019074 0.00002
NM_019109.5(ALG1):c.401G>C (p.Gly134Ala) rs763309062 0.00002
NM_019109.5(ALG1):c.430G>A (p.Val144Met) rs770392954 0.00002
NM_019109.5(ALG1):c.579G>A (p.Leu193=) rs750145784 0.00002
NM_019109.5(ALG1):c.683A>G (p.Asp228Gly) rs759264819 0.00002
NM_019109.5(ALG1):c.820C>T (p.Arg274Cys) rs201867255 0.00002
NM_019109.5(ALG1):c.841G>T (p.Val281Phe) rs553396382 0.00002
NM_019109.5(ALG1):c.932A>G (p.Asn311Ser) rs549071467 0.00002
NM_019109.5(ALG1):c.934C>T (p.Leu312Phe) rs761452986 0.00002
NM_019109.5(ALG1):c.941C>T (p.Ser314Phe) rs569218235 0.00002
NM_019109.5(ALG1):c.945C>T (p.Leu315=) rs766773704 0.00002
NM_019109.5(ALG1):c.1023C>T (p.Ile341=) rs1254998724 0.00001
NM_019109.5(ALG1):c.1029C>G (p.Val343=) rs1454696330 0.00001
NM_019109.5(ALG1):c.1032C>T (p.Cys344=) rs745523769 0.00001
NM_019109.5(ALG1):c.1060C>T (p.Pro354Ser) rs983547319 0.00001
NM_019109.5(ALG1):c.1072+14A>G rs1320606156 0.00001
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val) rs398124348 0.00001
NM_019109.5(ALG1):c.1084C>T (p.Leu362=) rs1366814290 0.00001
NM_019109.5(ALG1):c.1101C>T (p.His367=) rs1428414601 0.00001
NM_019109.5(ALG1):c.1103C>T (p.Thr368Met) rs762385611 0.00001
NM_019109.5(ALG1):c.1104G>A (p.Thr368=) rs1315375927 0.00001
NM_019109.5(ALG1):c.1129A>G (p.Met377Val) rs387906925 0.00001
NM_019109.5(ALG1):c.1146G>A (p.Met382Ile) rs778368053 0.00001
NM_019109.5(ALG1):c.1185G>C (p.Lys395Asn) rs1308517122 0.00001
NM_019109.5(ALG1):c.1263+8C>T rs1442144835 0.00001
NM_019109.5(ALG1):c.219C>G (p.Pro73=) rs776610922 0.00001
NM_019109.5(ALG1):c.22C>T (p.Leu8=) rs144712188 0.00001
NM_019109.5(ALG1):c.259G>C (p.Gly87Arg) rs187287792 0.00001
NM_019109.5(ALG1):c.262T>G (p.Leu88Val) rs794727301 0.00001
NM_019109.5(ALG1):c.287T>C (p.Val96Ala) rs534863399 0.00001
NM_019109.5(ALG1):c.295C>T (p.Arg99Ter) rs750451819 0.00001
NM_019109.5(ALG1):c.296G>A (p.Arg99Gln) rs1349600746 0.00001
NM_019109.5(ALG1):c.342G>A (p.Leu114=) rs1596252196 0.00001
NM_019109.5(ALG1):c.377A>G (p.Tyr126Cys) rs200094659 0.00001
NM_019109.5(ALG1):c.391-13C>G rs768190163 0.00001
NM_019109.5(ALG1):c.399A>C (p.Pro133=) rs200506666 0.00001
NM_019109.5(ALG1):c.443G>T (p.Cys148Phe) rs767756401 0.00001
NM_019109.5(ALG1):c.450C>G (p.Ser150Arg) rs121908340 0.00001
NM_019109.5(ALG1):c.516T>G (p.His172Gln) rs1310088513 0.00001
NM_019109.5(ALG1):c.540-15G>C rs1234821941 0.00001
NM_019109.5(ALG1):c.540-7T>G rs1475479052 0.00001
NM_019109.5(ALG1):c.543C>T (p.Tyr181=) rs375670899 0.00001
NM_019109.5(ALG1):c.575A>G (p.Asn192Ser) rs760563077 0.00001
NM_019109.5(ALG1):c.590A>G (p.Asn197Ser) rs780593921 0.00001
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter) rs1474783444 0.00001
NM_019109.5(ALG1):c.599G>A (p.Arg200Gln) rs199674071 0.00001
NM_019109.5(ALG1):c.621G>A (p.Trp207Ter) rs1956935335 0.00001
NM_019109.5(ALG1):c.630-10T>A rs774092984 0.00001
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser) rs528261173 0.00001
NM_019109.5(ALG1):c.729G>T (p.Pro243=) rs539568048 0.00001
NM_019109.5(ALG1):c.741-17T>C rs757946127 0.00001
NM_019109.5(ALG1):c.748C>T (p.Pro250Ser) rs1263087642 0.00001
NM_019109.5(ALG1):c.765G>A (p.Thr255=) rs763065965 0.00001
NM_019109.5(ALG1):c.782C>T (p.Thr261Met) rs534622519 0.00001
NM_019109.5(ALG1):c.823G>T (p.Glu275Ter) rs1372794201 0.00001
NM_019109.5(ALG1):c.863-14T>C rs780024263 0.00001
NM_019109.5(ALG1):c.863-2A>G rs768733117 0.00001
NM_019109.5(ALG1):c.866A>G (p.Asp289Gly) rs1180515976 0.00001
NM_019109.5(ALG1):c.886C>T (p.Leu296=) rs760271727 0.00001
NM_019109.5(ALG1):c.899A>G (p.Glu300Gly) rs1234795312 0.00001
NM_019109.5(ALG1):c.901+1G>A rs1227251669 0.00001
NM_019109.5(ALG1):c.902-12T>A rs781282806 0.00001
NM_019109.5(ALG1):c.961+6G>T rs1304012856 0.00001
NM_019109.5(ALG1):c.962-20G>A rs748104106 0.00001
NM_019109.5(ALG1):c.978G>A (p.Arg326=) rs746218352 0.00001
GRCh37/hg19 16p13.3(chr16:5121789-5133778)
GRCh37/hg19 16p13.3(chr16:5129043-5129828)
Multiple alleles
NC_000016.9:g.(?_5121851)_(5125557_?)del
NC_000016.9:g.(?_5121851)_(5127555_?)dup
NC_000016.9:g.(?_5130927)_(5131077_?)dup
NM_019109.5(ALG1):c.1017_1019dup (p.Gln339dup) rs2142721988
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro) rs267606651
NM_019109.5(ALG1):c.102T>C (p.His34=)
NM_019109.5(ALG1):c.1034C>T (p.Thr345Ile)
NM_019109.5(ALG1):c.1037C>G (p.Pro346Arg) rs398124347
NM_019109.5(ALG1):c.1038C>T (p.Pro346=)
NM_019109.5(ALG1):c.1042C>T (p.Leu348=) rs2142722071
NM_019109.5(ALG1):c.1043T>G (p.Leu348Arg) rs2142722084
NM_019109.5(ALG1):c.1051G>A (p.Glu351Lys)
NM_019109.5(ALG1):c.1056C>G (p.Asp352Glu)
NM_019109.5(ALG1):c.1057T>G (p.Tyr353Asp) rs1596259672
NM_019109.5(ALG1):c.1059C>A (p.Tyr353Ter)
NM_019109.5(ALG1):c.1059C>T (p.Tyr353=)
NM_019109.5(ALG1):c.1062C>A (p.Pro354=)
NM_019109.5(ALG1):c.1062C>G (p.Pro354=)
NM_019109.5(ALG1):c.1062C>T (p.Pro354=) rs909468865
NM_019109.5(ALG1):c.1063del (p.Leu355fs) rs758259853
NM_019109.5(ALG1):c.1065G>A (p.Leu355=)
NM_019109.5(ALG1):c.1072+11A>G
NM_019109.5(ALG1):c.1072+12G>A
NM_019109.5(ALG1):c.1072+13C>A
NM_019109.5(ALG1):c.1072+13C>T
NM_019109.5(ALG1):c.1072+16G>A
NM_019109.5(ALG1):c.1072+1G>T
NM_019109.5(ALG1):c.1072+20C>G
NM_019109.5(ALG1):c.1072+20C>T
NM_019109.5(ALG1):c.1072+8G>T
NM_019109.5(ALG1):c.1073-12_1073-11del rs1381566017
NM_019109.5(ALG1):c.1073-14C>T
NM_019109.5(ALG1):c.1073-19C>T
NM_019109.5(ALG1):c.1073-1G>A
NM_019109.5(ALG1):c.1073-2A>G rs1957033825
NM_019109.5(ALG1):c.1073G>C (p.Gly358Ala)
NM_019109.5(ALG1):c.1076C>T (p.Ser359Leu) rs1299775990
NM_019109.5(ALG1):c.1080G>C (p.Ala360=)
NM_019109.5(ALG1):c.1080G>T (p.Ala360=) rs143939207
NM_019109.5(ALG1):c.1081G>T (p.Asp361Tyr) rs2142725570
NM_019109.5(ALG1):c.1086G>C (p.Leu362=)
NM_019109.5(ALG1):c.1090G>A (p.Val364Ile)
NM_019109.5(ALG1):c.1091_1092delinsGG (p.Val364Gly) rs2142725608
NM_019109.5(ALG1):c.1095T>A (p.Cys365Ter)
NM_019109.5(ALG1):c.1095_1098del (p.Leu366fs)
NM_019109.5(ALG1):c.1097T>A (p.Leu366Gln) rs1596261208
NM_019109.5(ALG1):c.1098G>C (p.Leu366=)
NM_019109.5(ALG1):c.1117C>T (p.Leu373=)
NM_019109.5(ALG1):c.1128C>A (p.Pro376=)
NM_019109.5(ALG1):c.1136T>G (p.Val379Gly) rs1555452573
NM_019109.5(ALG1):c.1140G>A (p.Val380=) rs2142725780
NM_019109.5(ALG1):c.1143C>T (p.Asp381=) rs753000258
NM_019109.5(ALG1):c.1144A>G (p.Met382Val)
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr) rs1596261268
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg) rs1057520122
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser) rs398124349
NM_019109.5(ALG1):c.1163C>T (p.Pro388Leu)
NM_019109.5(ALG1):c.1165G>A (p.Val389Met) rs2142725866
NM_019109.5(ALG1):c.1166T>C (p.Val389Ala) rs1394994402
NM_019109.5(ALG1):c.1182C>G (p.Phe394Leu) rs1386102245
NM_019109.5(ALG1):c.1187+12A>G
NM_019109.5(ALG1):c.1187+13C>A
NM_019109.5(ALG1):c.1187+14C>T
NM_019109.5(ALG1):c.1187+15C>G
NM_019109.5(ALG1):c.1187+17A>C
NM_019109.5(ALG1):c.1187+9A>G
NM_019109.5(ALG1):c.1188-10C>G
NM_019109.5(ALG1):c.1188-13G>C
NM_019109.5(ALG1):c.1188-14G>C
NM_019109.5(ALG1):c.1188-17C>G
NM_019109.5(ALG1):c.1188-1G>A rs2142728485
NM_019109.5(ALG1):c.1188-8C>G
NM_019109.5(ALG1):c.1188-8C>T
NM_019109.5(ALG1):c.1188T>A (p.Cys396Ter) rs387906927
NM_019109.5(ALG1):c.1193A>G (p.His398Arg) rs1292094188
NM_019109.5(ALG1):c.1199T>G (p.Leu400Arg)
NM_019109.5(ALG1):c.11C>A (p.Ser4Ter)
NM_019109.5(ALG1):c.11C>T (p.Ser4Leu)
NM_019109.5(ALG1):c.1200G>T (p.Leu400=)
NM_019109.5(ALG1):c.1203G>A (p.Val401=)
NM_019109.5(ALG1):c.1208A>C (p.His403Pro)
NM_019109.5(ALG1):c.1210GAA[1] (p.Glu405del)
NM_019109.5(ALG1):c.1227C>G (p.Val409=)
NM_019109.5(ALG1):c.1236C>T (p.Asp412=)
NM_019109.5(ALG1):c.1250C>G (p.Ala417Gly)
NM_019109.5(ALG1):c.1252G>T (p.Ala418Ser)
NM_019109.5(ALG1):c.1255C>T (p.Gln419Ter)
NM_019109.5(ALG1):c.1257G>C (p.Gln419His) rs2142728655
NM_019109.5(ALG1):c.1260G>A (p.Leu420=)
NM_019109.5(ALG1):c.1263+10T>G
NM_019109.5(ALG1):c.1263+13G>C
NM_019109.5(ALG1):c.1263+14C>T
NM_019109.5(ALG1):c.1263+17C>T rs1567172251
NM_019109.5(ALG1):c.1263+2T>C
NM_019109.5(ALG1):c.1263+8C>A
NM_019109.5(ALG1):c.1263+9G>A
NM_019109.5(ALG1):c.1263G>A (p.Gln421=)
NM_019109.5(ALG1):c.12A>G (p.Ser4=)
NM_019109.5(ALG1):c.12A>T (p.Ser4=)
NM_019109.5(ALG1):c.13T>C (p.Cys5Arg) rs752179113
NM_019109.5(ALG1):c.13T>G (p.Cys5Gly)
NM_019109.5(ALG1):c.15C>A (p.Cys5Ter) rs752922461
NM_019109.5(ALG1):c.15C>T (p.Cys5=)
NM_019109.5(ALG1):c.16T>C (p.Leu6=)
NM_019109.5(ALG1):c.18G>T (p.Leu6Phe) rs758274229
NM_019109.5(ALG1):c.19G>C (p.Val7Leu)
NM_019109.5(ALG1):c.208+135dup rs34061670
NM_019109.5(ALG1):c.208+19G>A
NM_019109.5(ALG1):c.208+19_208+20insTATG rs756830715
NM_019109.5(ALG1):c.208+19_208+20insTTTG
NM_019109.5(ALG1):c.209-10C>T rs749446443
NM_019109.5(ALG1):c.209-14T>A rs769870335
NM_019109.5(ALG1):c.209-15A>G
NM_019109.5(ALG1):c.209-16C>T
NM_019109.5(ALG1):c.209-18A>C rs536671036
NM_019109.5(ALG1):c.209-20G>A
NM_019109.5(ALG1):c.209-2A>G rs774618681
NM_019109.5(ALG1):c.209-4T>A
NM_019109.5(ALG1):c.209-4del
NM_019109.5(ALG1):c.210C>T (p.Asn70=) rs1376984579
NM_019109.5(ALG1):c.212C>G (p.Ser71Cys)
NM_019109.5(ALG1):c.213C>G (p.Ser71=)
NM_019109.5(ALG1):c.21C>G (p.Val7=)
NM_019109.5(ALG1):c.225T>A (p.Asp75Glu) rs1205327334
NM_019109.5(ALG1):c.228G>A (p.Glu76=)
NM_019109.5(ALG1):c.231C>G (p.Leu77=)
NM_019109.5(ALG1):c.235C>T (p.Gln79Ter)
NM_019109.5(ALG1):c.238A>C (p.Asn80His)
NM_019109.5(ALG1):c.238A>G (p.Asn80Asp) rs755346143
NM_019109.5(ALG1):c.240C>G (p.Asn80Lys)
NM_019109.5(ALG1):c.244A>C (p.Arg82=)
NM_019109.5(ALG1):c.254T>C (p.Ile85Thr)
NM_019109.5(ALG1):c.258G>C (p.Val86=)
NM_019109.5(ALG1):c.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.283G>A (p.Ala95Thr)
NM_019109.5(ALG1):c.286+10C>G
NM_019109.5(ALG1):c.286+11G>A rs1475023645
NM_019109.5(ALG1):c.286+15A>G
NM_019109.5(ALG1):c.286+16C>A
NM_019109.5(ALG1):c.286+16C>T
NM_019109.5(ALG1):c.286+20A>G
NM_019109.5(ALG1):c.286+8G>A rs375987369
NM_019109.5(ALG1):c.286+8G>T
NM_019109.5(ALG1):c.287-10T>C
NM_019109.5(ALG1):c.287-12T>C
NM_019109.5(ALG1):c.287-12_289del rs2142701800
NM_019109.5(ALG1):c.287-18G>A rs1567166306
NM_019109.5(ALG1):c.287-19G>A
NM_019109.5(ALG1):c.287-7C>G
NM_019109.5(ALG1):c.287-9G>T
NM_019109.5(ALG1):c.287T>A (p.Val96Asp) rs534863399
NM_019109.5(ALG1):c.287T>G (p.Val96Gly) rs534863399
NM_019109.5(ALG1):c.288T>C (p.Val96=)
NM_019109.5(ALG1):c.28_45dup (p.Leu15_Pro16insAlaLeuCysLeuLeuLeu)
NM_019109.5(ALG1):c.292C>G (p.Pro98Ala) rs1252818613
NM_019109.5(ALG1):c.292C>T (p.Pro98Ser)
NM_019109.5(ALG1):c.293C>T (p.Pro98Leu) rs1596252105
NM_019109.5(ALG1):c.301_302dup (p.Gln102fs)
NM_019109.5(ALG1):c.309C>G (p.Tyr103Ter) rs199553558
NM_019109.5(ALG1):c.310G>A (p.Gly104Arg) rs992880561
NM_019109.5(ALG1):c.312A>C (p.Gly104=)
NM_019109.5(ALG1):c.317A>C (p.Lys106Thr)
NM_019109.5(ALG1):c.318dup (p.Val107fs)
NM_019109.5(ALG1):c.324A>G (p.Val108=)
NM_019109.5(ALG1):c.339C>G (p.Tyr113Ter) rs776990436
NM_019109.5(ALG1):c.363G>A (p.Arg121=)
NM_019109.5(ALG1):c.366G>A (p.Glu122=)
NM_019109.5(ALG1):c.368C>G (p.Pro123Arg)
NM_019109.5(ALG1):c.369A>G (p.Pro123=)
NM_019109.5(ALG1):c.372T>C (p.Gly124=)
NM_019109.5(ALG1):c.377A>T (p.Tyr126Phe) rs200094659
NM_019109.5(ALG1):c.387C>G (p.Leu129=)
NM_019109.5(ALG1):c.390+11G>A
NM_019109.5(ALG1):c.390+11G>C
NM_019109.5(ALG1):c.390+13C>A rs62036244
NM_019109.5(ALG1):c.390+13C>G
NM_019109.5(ALG1):c.390+13C>T rs62036244
NM_019109.5(ALG1):c.390+15C>T
NM_019109.5(ALG1):c.390+17G>A
NM_019109.5(ALG1):c.390+18C>T
NM_019109.5(ALG1):c.390+3G>T
NM_019109.5(ALG1):c.390+5G>A
NM_019109.5(ALG1):c.390+6T>G rs2142702237
NM_019109.5(ALG1):c.390+9C>T
NM_019109.5(ALG1):c.391-12T>C
NM_019109.5(ALG1):c.391-13C>T
NM_019109.5(ALG1):c.391-16T>C
NM_019109.5(ALG1):c.391-17G>C
NM_019109.5(ALG1):c.391-20C>T
NM_019109.5(ALG1):c.391-2A>G
NM_019109.5(ALG1):c.391-5C>T
NM_019109.5(ALG1):c.393C>T (p.Asn131=)
NM_019109.5(ALG1):c.396C>T (p.Pro132=)
NM_019109.5(ALG1):c.398_399insCA (p.Gly134fs) rs1956891979
NM_019109.5(ALG1):c.399A>G (p.Pro133=) rs200506666
NM_019109.5(ALG1):c.415G>A (p.Ala139Thr)
NM_019109.5(ALG1):c.415G>T (p.Ala139Ser)
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_019109.5(ALG1):c.437G>C (p.Cys146Ser) rs1956892771
NM_019109.5(ALG1):c.440T>A (p.Leu147His)
NM_019109.5(ALG1):c.450C>A (p.Ser150Arg) rs121908340
NM_019109.5(ALG1):c.456C>T (p.Leu152=) rs764878109
NM_019109.5(ALG1):c.468G>C (p.Trp156Cys) rs2142707214
NM_019109.5(ALG1):c.486dup (p.Ile163fs)
NM_019109.5(ALG1):c.487A>T (p.Ile163Phe) rs2142707280
NM_019109.5(ALG1):c.493G>C (p.Gly165Arg) rs1192356042
NM_019109.5(ALG1):c.494G>C (p.Gly165Ala)
NM_019109.5(ALG1):c.494G>T (p.Gly165Val)
NM_019109.5(ALG1):c.496C>T (p.Leu166=)
NM_019109.5(ALG1):c.506G>A (p.Gly169Asp) rs2142707365
NM_019109.5(ALG1):c.507C>T (p.Gly169=)
NM_019109.5(ALG1):c.512dup (p.Asn171fs)
NM_019109.5(ALG1):c.514C>A (p.His172Asn)
NM_019109.5(ALG1):c.514C>T (p.His172Tyr)
NM_019109.5(ALG1):c.523G>A (p.Val175Ile)
NM_019109.5(ALG1):c.523G>T (p.Val175Phe) rs762783729
NM_019109.5(ALG1):c.525T>G (p.Val175=)
NM_019109.5(ALG1):c.529C>G (p.Leu177Val) rs200194917
NM_019109.5(ALG1):c.531G>T (p.Leu177=)
NM_019109.5(ALG1):c.534C>T (p.Ala178=)
NM_019109.5(ALG1):c.539+10T>C
NM_019109.5(ALG1):c.539+19G>A
NM_019109.5(ALG1):c.539+1G>A
NM_019109.5(ALG1):c.539+20G>A
NM_019109.5(ALG1):c.539+7G>T
NM_019109.5(ALG1):c.539+9C>G
NM_019109.5(ALG1):c.539_539+1delinsTC
NM_019109.5(ALG1):c.540-14A>T rs750808125
NM_019109.5(ALG1):c.540-20C>G
NM_019109.5(ALG1):c.540-2A>T
NM_019109.5(ALG1):c.540-8C>T rs2142712041
NM_019109.5(ALG1):c.543C>G (p.Tyr181Ter)
NM_019109.5(ALG1):c.558G>T (p.Gly186=)
NM_019109.5(ALG1):c.559C>T (p.Arg187Cys)
NM_019109.5(ALG1):c.562C>A (p.Leu188Met)
NM_019109.5(ALG1):c.562C>T (p.Leu188=) rs2142712145
NM_019109.5(ALG1):c.564G>C (p.Leu188=)
NM_019109.5(ALG1):c.564G>T (p.Leu188=)
NM_019109.5(ALG1):c.567C>T (p.Ser189=)
NM_019109.5(ALG1):c.568C>A (p.His190Asn) rs771904667
NM_019109.5(ALG1):c.577C>T (p.Leu193=)
NM_019109.5(ALG1):c.580T>C (p.Cys194Arg)
NM_019109.5(ALG1):c.583G>T (p.Val195Phe) rs2142712225
NM_019109.5(ALG1):c.588C>G (p.Thr196=)
NM_019109.5(ALG1):c.590A>C (p.Asn197Thr)
NM_019109.5(ALG1):c.591T>A (p.Asn197Lys) rs1956934637
NM_019109.5(ALG1):c.593C>G (p.Ala198Gly)
NM_019109.5(ALG1):c.602A>C (p.Glu201Ala)
NM_019109.5(ALG1):c.604G>T (p.Asp202Tyr) rs1239003111
NM_019109.5(ALG1):c.609G>C (p.Leu203=)
NM_019109.5(ALG1):c.612G>A (p.Ala204=)
NM_019109.5(ALG1):c.624C>T (p.His208=)
NM_019109.5(ALG1):c.629+11C>G
NM_019109.5(ALG1):c.629+13G>A
NM_019109.5(ALG1):c.629+16A>G
NM_019109.5(ALG1):c.629+17T>C
NM_019109.5(ALG1):c.629+17_629+32dup
NM_019109.5(ALG1):c.629+19A>G
NM_019109.5(ALG1):c.629+20_629+34del
NM_019109.5(ALG1):c.629+7T>C
NM_019109.5(ALG1):c.629+9G>T
NM_019109.5(ALG1):c.630-13G>A rs559171127
NM_019109.5(ALG1):c.630-13G>C rs559171127
NM_019109.5(ALG1):c.630-16C>T
NM_019109.5(ALG1):c.630-18G>A rs545873278
NM_019109.5(ALG1):c.630-18G>T
NM_019109.5(ALG1):c.630-19C>A
NM_019109.5(ALG1):c.630-19C>T rs371014838
NM_019109.5(ALG1):c.630-20C>T
NM_019109.5(ALG1):c.630-2A>G
NM_019109.5(ALG1):c.630-5T>C
NM_019109.5(ALG1):c.630-7A>G
NM_019109.5(ALG1):c.639C>A (p.Thr213=)
NM_019109.5(ALG1):c.645C>G (p.Tyr215Ter)
NM_019109.5(ALG1):c.645C>T (p.Tyr215=)
NM_019109.5(ALG1):c.654C>A (p.Pro218=)
NM_019109.5(ALG1):c.654C>G (p.Pro218=)
NM_019109.5(ALG1):c.657A>T (p.Ala219=)
NM_019109.5(ALG1):c.672G>A (p.Glu224=)
NM_019109.5(ALG1):c.677C>G (p.Pro226Arg)
NM_019109.5(ALG1):c.679C>G (p.Leu227Val)
NM_019109.5(ALG1):c.684C>T (p.Asp228=)
NM_019109.5(ALG1):c.687G>A (p.Leu229=)
NM_019109.5(ALG1):c.696G>T (p.Arg232=)
NM_019109.5(ALG1):c.699C>G (p.Leu233=)
NM_019109.5(ALG1):c.6G>T (p.Ala2=) rs1340289136
NM_019109.5(ALG1):c.702C>T (p.Phe234=)
NM_019109.5(ALG1):c.710del (p.Leu237fs)
NM_019109.5(ALG1):c.711_726del (p.Gly238fs) rs756236917
NM_019109.5(ALG1):c.717C>T (p.Ser239=) rs1956945310
NM_019109.5(ALG1):c.729G>A (p.Pro243=)
NM_019109.5(ALG1):c.739del (p.Arg247fs)
NM_019109.5(ALG1):c.740+10C>T
NM_019109.5(ALG1):c.740+16T>A
NM_019109.5(ALG1):c.740+1G>A
NM_019109.5(ALG1):c.740+20C>T
NM_019109.5(ALG1):c.740+6C>T
NM_019109.5(ALG1):c.740G>T (p.Arg247Leu)
NM_019109.5(ALG1):c.740_740+5delinsTGTAGA
NM_019109.5(ALG1):c.741-12C>G
NM_019109.5(ALG1):c.741-12dup
NM_019109.5(ALG1):c.741-13del rs749328532
NM_019109.5(ALG1):c.741-13dup
NM_019109.5(ALG1):c.741-15T>C
NM_019109.5(ALG1):c.741-20C>T
NM_019109.5(ALG1):c.741-6C>T
NM_019109.5(ALG1):c.741-8T>C
NM_019109.5(ALG1):c.741-9C>T
NM_019109.5(ALG1):c.743C>G (p.Ser248Ter)
NM_019109.5(ALG1):c.750T>G (p.Pro250=)
NM_019109.5(ALG1):c.756C>G (p.Asp252Glu)
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.772_789dup (p.Ser258_Arg263dup) rs1331794136
NM_019109.5(ALG1):c.774G>A (p.Ser258=)
NM_019109.5(ALG1):c.783G>A (p.Thr261=)
NM_019109.5(ALG1):c.786del (p.Glu262fs)
NM_019109.5(ALG1):c.788G>A (p.Arg263Gln) rs1308969550
NM_019109.5(ALG1):c.791_804del (p.Asp264fs) rs2142715856
NM_019109.5(ALG1):c.792T>C (p.Asp264=)
NM_019109.5(ALG1):c.801C>T (p.Ser267=) rs770104406
NM_019109.5(ALG1):c.802G>T (p.Gly268Trp)
NM_019109.5(ALG1):c.809_832del (p.Val270_Pro277del) rs1206167331
NM_019109.5(ALG1):c.813G>A (p.Thr271=)
NM_019109.5(ALG1):c.817C>G (p.Leu273Val)
NM_019109.5(ALG1):c.819C>G (p.Leu273=)
NM_019109.5(ALG1):c.819C>T (p.Leu273=) rs1292939104
NM_019109.5(ALG1):c.823G>C (p.Glu275Gln)
NM_019109.5(ALG1):c.828G>A (p.Arg276=) rs2142716095
NM_019109.5(ALG1):c.832G>A (p.Ala278Thr) rs1364564952
NM_019109.5(ALG1):c.834C>T (p.Ala278=)
NM_019109.5(ALG1):c.835C>G (p.Leu279Val) rs1057520106
NM_019109.5(ALG1):c.835C>T (p.Leu279=)
NM_019109.5(ALG1):c.837G>C (p.Leu279=)
NM_019109.5(ALG1):c.851C>T (p.Thr284Met)
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.863-11T>C
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.863-3T>A
NM_019109.5(ALG1):c.863-3T>C rs1208866677
NM_019109.5(ALG1):c.863-8T>C
NM_019109.5(ALG1):c.872A>G (p.Asp291Gly) rs192564717
NM_019109.5(ALG1):c.872A>T (p.Asp291Val) rs192564717
NM_019109.5(ALG1):c.873C>G (p.Asp291Glu)
NM_019109.5(ALG1):c.875del (p.Phe292fs)
NM_019109.5(ALG1):c.876C>G (p.Phe292Leu) rs1009298200
NM_019109.5(ALG1):c.877T>C (p.Ser293Pro) rs1555452127
NM_019109.5(ALG1):c.877_879del (p.Ser293del) rs776453756
NM_019109.5(ALG1):c.878C>G (p.Ser293Cys) rs1421613066
NM_019109.5(ALG1):c.879C>T (p.Ser293=)
NM_019109.5(ALG1):c.87G>T (p.Gly29=) rs754060914
NM_019109.5(ALG1):c.87_91del (p.Arg30fs)
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.889G>T (p.Ala297Ser) rs2142716887
NM_019109.5(ALG1):c.88C>A (p.Arg30=)
NM_019109.5(ALG1):c.898G>T (p.Glu300Ter)
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.901+5G>T
NM_019109.5(ALG1):c.901A>C (p.Lys301Gln) rs753600353
NM_019109.5(ALG1):c.901A>G (p.Lys301Glu) rs753600353
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.91del (p.Ala31fs)
NM_019109.5(ALG1):c.920_921del (p.Leu307fs)
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.931A>G (p.Asn311Asp)
NM_019109.5(ALG1):c.946G>A (p.Val316Ile) rs150272167
NM_019109.5(ALG1):c.946G>C (p.Val316Leu)
NM_019109.5(ALG1):c.950G>C (p.Cys317Ser) rs373396169
NM_019109.5(ALG1):c.950G>T (p.Cys317Phe)
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+1G>A
NM_019109.5(ALG1):c.961+1G>C rs373355236
NM_019109.5(ALG1):c.961+20G>A
NM_019109.5(ALG1):c.961+4C>G rs2142718757
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.964A>C (p.Lys322Gln)
NM_019109.5(ALG1):c.965A>T (p.Lys322Ile) rs145851409
NM_019109.5(ALG1):c.969G>A (p.Gly323=)
NM_019109.5(ALG1):c.969G>T (p.Gly323=)
NM_019109.5(ALG1):c.969del (p.Pro324fs)
NM_019109.5(ALG1):c.96C>A (p.Ala32=)
NM_019109.5(ALG1):c.96C>G (p.Ala32=)
NM_019109.5(ALG1):c.970C>G (p.Pro324Ala)
NM_019109.5(ALG1):c.975G>C (p.Leu325=)
NM_019109.5(ALG1):c.977G>C (p.Arg326Thr)
NM_019109.5(ALG1):c.979G>A (p.Glu327Lys)
NM_019109.5(ALG1):c.97C>A (p.Arg33=)
NM_019109.5(ALG1):c.97C>T (p.Arg33Trp)
NM_019109.5(ALG1):c.981G>A (p.Glu327=)
NM_019109.5(ALG1):c.987T>C (p.Tyr329=)
NM_019109.5(ALG1):c.988A>G (p.Ser330Gly) rs764029645
NM_019109.5(ALG1):c.994C>G (p.Leu332Val) rs1957007425
NM_019109.5(ALG1):c.996C>T (p.Leu332=)
NM_019109.5(ALG1):c.9C>T (p.Ala3=)

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