ClinVar Miner

List of variants reported as likely benign for ALG1-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 400
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HGVS dbSNP gnomAD frequency
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys) rs112668461 0.01358
NM_019109.5(ALG1):c.539+16G>A rs189715949 0.00311
NM_019109.5(ALG1):c.867C>T (p.Asp289=) rs144029725 0.00265
NM_019109.4(ALG1):c.191C>A (p.Thr64Asn) rs145474820 0.00246
NM_019109.5(ALG1):c.8C>A (p.Ala3Asp) rs559805054 0.00096
NM_019109.5(ALG1):c.21C>T (p.Val7=) rs149388535 0.00093
NM_019109.5(ALG1):c.787C>T (p.Arg263Trp) rs145317306 0.00091
NM_019109.5(ALG1):c.888G>A (p.Leu296=) rs577972473 0.00056
NM_019109.5(ALG1):c.991C>T (p.Arg331Cys) rs148933850 0.00052
NM_019109.5(ALG1):c.391-15C>G rs374836725 0.00046
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00045
NM_019109.5(ALG1):c.1089T>G (p.Gly363=) rs146526768 0.00036
NM_019109.5(ALG1):c.694C>T (p.Arg232Trp) rs148301670 0.00026
NM_019109.5(ALG1):c.540-13T>C rs201477967 0.00023
NM_019109.5(ALG1):c.480C>T (p.Gly160=) rs140674382 0.00020
NM_019109.5(ALG1):c.361A>C (p.Arg121=) rs149695050 0.00016
NM_019109.5(ALG1):c.477T>C (p.Tyr159=) rs145487895 0.00016
NM_019109.5(ALG1):c.1281T>C (p.Phe427=) rs538385814 0.00013
NM_019109.5(ALG1):c.384T>C (p.Phe128=) rs140626461 0.00011
NM_019109.5(ALG1):c.802G>A (p.Gly268Arg) rs148611855 0.00011
NM_019109.4(ALG1):c.36T>C (p.Cys12=) rs369180139 0.00010
NM_019109.5(ALG1):c.540-12C>G rs200506548 0.00010
NM_019109.5(ALG1):c.863-15A>G rs371947976 0.00010
NM_019109.5(ALG1):c.1263+16A>G rs373065015 0.00008
NM_019109.5(ALG1):c.150G>A (p.Gln50=) rs144380244 0.00008
NM_019109.5(ALG1):c.391-11A>G rs767861344 0.00008
NM_019109.5(ALG1):c.186G>T (p.Ser62=) rs767351398 0.00006
NM_019109.5(ALG1):c.286+13C>G rs767857889 0.00006
NM_019109.5(ALG1):c.286+15A>C rs376062732 0.00006
NM_019109.5(ALG1):c.962-6G>T rs769389896 0.00006
NM_019109.5(ALG1):c.993C>T (p.Arg331=) rs561385337 0.00006
NM_019109.5(ALG1):c.1188-4G>A rs530972149 0.00005
NM_019109.5(ALG1):c.522C>T (p.Leu174=) rs776753482 0.00005
NM_019109.5(ALG1):c.758C>A (p.Pro253Gln) rs770327947 0.00005
NM_019109.5(ALG1):c.774G>C (p.Ser258=) rs757068692 0.00005
NM_019109.5(ALG1):c.1077G>A (p.Ser359=) rs564052127 0.00004
NM_019109.5(ALG1):c.1353G>A (p.Glu451=) rs772562254 0.00004
NM_019109.5(ALG1):c.221A>T (p.His74Leu) rs201337379 0.00004
NM_019109.5(ALG1):c.309C>T (p.Tyr103=) rs199553558 0.00004
NM_019109.5(ALG1):c.639C>T (p.Thr213=) rs753164786 0.00004
NM_019109.5(ALG1):c.654C>T (p.Pro218=) rs375422039 0.00004
NM_019109.5(ALG1):c.682G>T (p.Asp228Tyr) rs145158686 0.00004
NM_019109.5(ALG1):c.741-13T>C rs368398266 0.00004
NM_019109.4(ALG1):c.208+12A>G rs777062447 0.00003
NM_019109.5(ALG1):c.1050C>T (p.Ala350=) rs777066439 0.00003
NM_019109.5(ALG1):c.1073-20C>T rs779627691 0.00003
NM_019109.5(ALG1):c.1263+18C>T rs570783073 0.00003
NM_019109.5(ALG1):c.1263+20C>T rs1338515291 0.00003
NM_019109.5(ALG1):c.1275A>C (p.Ser425=) rs746944961 0.00003
NM_019109.5(ALG1):c.286+10C>T rs371480769 0.00003
NM_019109.5(ALG1):c.539+15A>G rs777450873 0.00003
NM_019109.5(ALG1):c.629+11C>T rs776701190 0.00003
NM_019109.5(ALG1):c.648C>T (p.Asp216=) rs141455029 0.00003
NM_019109.5(ALG1):c.726T>C (p.Ser242=) rs780479533 0.00003
NM_019109.5(ALG1):c.961+19G>A rs768688738 0.00003
NM_019109.4(ALG1):c.196C>T (p.Leu66=) rs753405851 0.00002
NM_019109.5(ALG1):c.135C>T (p.Arg45=) rs779092735 0.00002
NM_019109.5(ALG1):c.208+14_208+17dup rs746780708 0.00002
NM_019109.5(ALG1):c.579G>A (p.Leu193=) rs750145784 0.00002
NM_019109.5(ALG1):c.945C>T (p.Leu315=) rs766773704 0.00002
NM_019109.5(ALG1):c.1023C>T (p.Ile341=) rs1254998724 0.00001
NM_019109.5(ALG1):c.1029C>G (p.Val343=) rs1454696330 0.00001
NM_019109.5(ALG1):c.1032C>T (p.Cys344=) rs745523769 0.00001
NM_019109.5(ALG1):c.1072+14A>G rs1320606156 0.00001
NM_019109.5(ALG1):c.1084C>T (p.Leu362=) rs1366814290 0.00001
NM_019109.5(ALG1):c.1101C>T (p.His367=) rs1428414601 0.00001
NM_019109.5(ALG1):c.1104G>A (p.Thr368=) rs1315375927 0.00001
NM_019109.5(ALG1):c.1263+8C>T rs1442144835 0.00001
NM_019109.5(ALG1):c.126C>T (p.Asp42=) rs1203067807 0.00001
NM_019109.5(ALG1):c.1374C>T (p.Leu458=) rs776869363 0.00001
NM_019109.5(ALG1):c.138C>T (p.Ser46=) rs148665912 0.00001
NM_019109.5(ALG1):c.159G>C (p.Ala53=) rs776772780 0.00001
NM_019109.5(ALG1):c.201G>A (p.Gly67=) rs1377122958 0.00001
NM_019109.5(ALG1):c.208+13G>A rs794726945 0.00001
NM_019109.5(ALG1):c.219C>G (p.Pro73=) rs776610922 0.00001
NM_019109.5(ALG1):c.22C>T (p.Leu8=) rs144712188 0.00001
NM_019109.5(ALG1):c.259G>C (p.Gly87Arg) rs187287792 0.00001
NM_019109.5(ALG1):c.342G>A (p.Leu114=) rs1596252196 0.00001
NM_019109.5(ALG1):c.391-13C>G rs768190163 0.00001
NM_019109.5(ALG1):c.399A>C (p.Pro133=) rs200506666 0.00001
NM_019109.5(ALG1):c.540-15G>C rs1234821941 0.00001
NM_019109.5(ALG1):c.540-7T>G rs1475479052 0.00001
NM_019109.5(ALG1):c.543C>T (p.Tyr181=) rs375670899 0.00001
NM_019109.5(ALG1):c.630-10T>A rs774092984 0.00001
NM_019109.5(ALG1):c.729G>T (p.Pro243=) rs539568048 0.00001
NM_019109.5(ALG1):c.741-17T>C rs757946127 0.00001
NM_019109.5(ALG1):c.75C>G (p.Arg25=) rs369610043 0.00001
NM_019109.5(ALG1):c.765G>A (p.Thr255=) rs763065965 0.00001
NM_019109.5(ALG1):c.863-14T>C rs780024263 0.00001
NM_019109.5(ALG1):c.886C>T (p.Leu296=) rs760271727 0.00001
NM_019109.5(ALG1):c.902-12T>A rs781282806 0.00001
NM_019109.5(ALG1):c.962-20G>A rs748104106 0.00001
NM_019109.5(ALG1):c.978G>A (p.Arg326=) rs746218352 0.00001
NM_201400.4(EEF2KMT):c.*886C>G rs758181814 0.00001
NM_019109.5(ALG1):c.102T>C (p.His34=)
NM_019109.5(ALG1):c.1038C>T (p.Pro346=)
NM_019109.5(ALG1):c.1042C>T (p.Leu348=) rs2142722071
NM_019109.5(ALG1):c.1059C>T (p.Tyr353=)
NM_019109.5(ALG1):c.1062C>A (p.Pro354=)
NM_019109.5(ALG1):c.1062C>G (p.Pro354=)
NM_019109.5(ALG1):c.1062C>T (p.Pro354=) rs909468865
NM_019109.5(ALG1):c.1065G>A (p.Leu355=)
NM_019109.5(ALG1):c.1072+11A>G
NM_019109.5(ALG1):c.1072+12G>A
NM_019109.5(ALG1):c.1072+13C>A
NM_019109.5(ALG1):c.1072+13C>T
NM_019109.5(ALG1):c.1072+16G>A
NM_019109.5(ALG1):c.1072+20C>G
NM_019109.5(ALG1):c.1072+20C>T
NM_019109.5(ALG1):c.1072+8G>T
NM_019109.5(ALG1):c.1073-12_1073-11del rs1381566017
NM_019109.5(ALG1):c.1073-14C>T
NM_019109.5(ALG1):c.1073-19C>T
NM_019109.5(ALG1):c.1080G>C (p.Ala360=)
NM_019109.5(ALG1):c.1080G>T (p.Ala360=) rs143939207
NM_019109.5(ALG1):c.1086G>C (p.Leu362=)
NM_019109.5(ALG1):c.1098G>C (p.Leu366=)
NM_019109.5(ALG1):c.1117C>T (p.Leu373=)
NM_019109.5(ALG1):c.1128C>A (p.Pro376=)
NM_019109.5(ALG1):c.1140G>A (p.Val380=) rs2142725780
NM_019109.5(ALG1):c.1143C>T (p.Asp381=) rs753000258
NM_019109.5(ALG1):c.1187+12A>G
NM_019109.5(ALG1):c.1187+13C>A
NM_019109.5(ALG1):c.1187+14C>T
NM_019109.5(ALG1):c.1187+15C>G
NM_019109.5(ALG1):c.1187+17A>C
NM_019109.5(ALG1):c.1187+9A>G
NM_019109.5(ALG1):c.1188-10C>G
NM_019109.5(ALG1):c.1188-13G>C
NM_019109.5(ALG1):c.1188-14G>C
NM_019109.5(ALG1):c.1188-17C>G
NM_019109.5(ALG1):c.1188-8C>G
NM_019109.5(ALG1):c.1188-8C>T
NM_019109.5(ALG1):c.1200G>T (p.Leu400=)
NM_019109.5(ALG1):c.1203G>A (p.Val401=)
NM_019109.5(ALG1):c.120G>C (p.Leu40=)
NM_019109.5(ALG1):c.1227C>G (p.Val409=)
NM_019109.5(ALG1):c.1236C>T (p.Asp412=)
NM_019109.5(ALG1):c.123C>G (p.Gly41=)
NM_019109.5(ALG1):c.123C>T (p.Gly41=)
NM_019109.5(ALG1):c.1260G>A (p.Leu420=)
NM_019109.5(ALG1):c.1263+10T>G
NM_019109.5(ALG1):c.1263+13G>C
NM_019109.5(ALG1):c.1263+14C>T
NM_019109.5(ALG1):c.1263+17C>T rs1567172251
NM_019109.5(ALG1):c.1263+8C>A
NM_019109.5(ALG1):c.1263+9G>A
NM_019109.5(ALG1):c.1272C>T (p.Phe424=)
NM_019109.5(ALG1):c.1292C>T (p.Ala431Val) rs370439294
NM_019109.5(ALG1):c.12A>G (p.Ser4=)
NM_019109.5(ALG1):c.12A>T (p.Ser4=)
NM_019109.5(ALG1):c.1302A>T (p.Leu434=)
NM_019109.5(ALG1):c.1314G>C (p.Arg438=)
NM_019109.5(ALG1):c.1317G>A (p.Lys439=)
NM_019109.5(ALG1):c.1324C>A (p.Arg442=)
NM_019109.5(ALG1):c.1326G>A (p.Arg442=)
NM_019109.5(ALG1):c.1329G>A (p.Glu443=)
NM_019109.5(ALG1):c.132C>T (p.Gly44=)
NM_019109.5(ALG1):c.1332G>A (p.Ser444=) rs554183734
NM_019109.5(ALG1):c.1335G>A (p.Gln445=)
NM_019109.5(ALG1):c.1341C>G (p.Leu447=)
NM_019109.5(ALG1):c.1344A>G (p.Arg448=)
NM_019109.5(ALG1):c.1365G>A (p.Gln455=)
NM_019109.5(ALG1):c.1368T>A (p.Thr456=) rs1455567093
NM_019109.5(ALG1):c.1392A>G (p.Thr464=)
NM_019109.5(ALG1):c.156C>T (p.His52=)
NM_019109.5(ALG1):c.15C>T (p.Cys5=)
NM_019109.5(ALG1):c.160C>T (p.Leu54=)
NM_019109.5(ALG1):c.162G>T (p.Leu54=) rs2142698659
NM_019109.5(ALG1):c.165G>C (p.Ser55=) rs2142698676
NM_019109.5(ALG1):c.16T>C (p.Leu6=)
NM_019109.5(ALG1):c.177C>T (p.His59=)
NM_019109.5(ALG1):c.183C>T (p.Phe61=)
NM_019109.5(ALG1):c.189G>A (p.Val63=) rs2142698777
NM_019109.5(ALG1):c.18G>T (p.Leu6Phe) rs758274229
NM_019109.5(ALG1):c.201G>C (p.Gly67=)
NM_019109.5(ALG1):c.204C>T (p.Phe68=) rs545347166
NM_019109.5(ALG1):c.208+13G>C
NM_019109.5(ALG1):c.208+17_208+18insCGTC
NM_019109.5(ALG1):c.208+18_208+19insATCT
NM_019109.5(ALG1):c.208+18_208+19insTTCT
NM_019109.5(ALG1):c.208+19G>A
NM_019109.5(ALG1):c.208+19_208+20insTTTG
NM_019109.5(ALG1):c.209-10C>T rs749446443
NM_019109.5(ALG1):c.209-14T>A rs769870335
NM_019109.5(ALG1):c.209-15A>G
NM_019109.5(ALG1):c.209-16C>T
NM_019109.5(ALG1):c.209-18A>C rs536671036
NM_019109.5(ALG1):c.209-20G>A
NM_019109.5(ALG1):c.209-4T>A
NM_019109.5(ALG1):c.210C>T (p.Asn70=) rs1376984579
NM_019109.5(ALG1):c.213C>G (p.Ser71=)
NM_019109.5(ALG1):c.21C>G (p.Val7=)
NM_019109.5(ALG1):c.228G>A (p.Glu76=)
NM_019109.5(ALG1):c.231C>G (p.Leu77=)
NM_019109.5(ALG1):c.244A>C (p.Arg82=)
NM_019109.5(ALG1):c.258G>C (p.Val86=)
NM_019109.5(ALG1):c.25C>T (p.Leu9=) rs771370322
NM_019109.5(ALG1):c.261G>A (p.Gly87=)
NM_019109.5(ALG1):c.267A>C (p.Thr89=) rs768454735
NM_019109.5(ALG1):c.267A>G (p.Thr89=)
NM_019109.5(ALG1):c.267A>T (p.Thr89=) rs768454735
NM_019109.5(ALG1):c.27G>A (p.Leu9=)
NM_019109.5(ALG1):c.27G>C (p.Leu9=)
NM_019109.5(ALG1):c.27G>T (p.Leu9=)
NM_019109.5(ALG1):c.286+10C>G
NM_019109.5(ALG1):c.286+11G>A rs1475023645
NM_019109.5(ALG1):c.286+15A>G
NM_019109.5(ALG1):c.286+16C>A
NM_019109.5(ALG1):c.286+16C>T
NM_019109.5(ALG1):c.286+20A>G
NM_019109.5(ALG1):c.286+8G>A rs375987369
NM_019109.5(ALG1):c.286+8G>T
NM_019109.5(ALG1):c.287-10T>C
NM_019109.5(ALG1):c.287-12T>C
NM_019109.5(ALG1):c.287-18G>A rs1567166306
NM_019109.5(ALG1):c.287-19G>A
NM_019109.5(ALG1):c.287-9G>T
NM_019109.5(ALG1):c.288T>C (p.Val96=)
NM_019109.5(ALG1):c.30G>A (p.Ala10=)
NM_019109.5(ALG1):c.30G>C (p.Ala10=)
NM_019109.5(ALG1):c.30G>T (p.Ala10=)
NM_019109.5(ALG1):c.312A>C (p.Gly104=)
NM_019109.5(ALG1):c.31C>T (p.Leu11=)
NM_019109.5(ALG1):c.324A>G (p.Val108=)
NM_019109.5(ALG1):c.33G>T (p.Leu11=)
NM_019109.5(ALG1):c.363G>A (p.Arg121=)
NM_019109.5(ALG1):c.366G>A (p.Glu122=)
NM_019109.5(ALG1):c.369A>G (p.Pro123=)
NM_019109.5(ALG1):c.372T>C (p.Gly124=)
NM_019109.5(ALG1):c.387C>G (p.Leu129=)
NM_019109.5(ALG1):c.390+11G>A
NM_019109.5(ALG1):c.390+11G>C
NM_019109.5(ALG1):c.390+13C>G
NM_019109.5(ALG1):c.390+15C>T
NM_019109.5(ALG1):c.390+17G>A
NM_019109.5(ALG1):c.390+18C>T
NM_019109.5(ALG1):c.390+9C>T
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.391-5C>T
NM_019109.5(ALG1):c.393C>T (p.Asn131=)
NM_019109.5(ALG1):c.396C>T (p.Pro132=)
NM_019109.5(ALG1):c.399A>G (p.Pro133=) rs200506666
NM_019109.5(ALG1):c.39G>A (p.Leu13=) rs751409028
NM_019109.5(ALG1):c.39G>C (p.Leu13=) rs751409028
NM_019109.5(ALG1):c.40C>T (p.Leu14=)
NM_019109.5(ALG1):c.42G>T (p.Leu14=)
NM_019109.5(ALG1):c.43C>T (p.Leu15=)
NM_019109.5(ALG1):c.456C>T (p.Leu152=) rs764878109
NM_019109.5(ALG1):c.496C>T (p.Leu166=)
NM_019109.5(ALG1):c.49C>T (p.Leu17=)
NM_019109.5(ALG1):c.507C>T (p.Gly169=)
NM_019109.5(ALG1):c.525T>G (p.Val175=)
NM_019109.5(ALG1):c.531G>T (p.Leu177=)
NM_019109.5(ALG1):c.534C>T (p.Ala178=)
NM_019109.5(ALG1):c.539+10T>C
NM_019109.5(ALG1):c.539+19G>A
NM_019109.5(ALG1):c.539+20G>A
NM_019109.5(ALG1):c.539+7G>T
NM_019109.5(ALG1):c.540-14A>T rs750808125
NM_019109.5(ALG1):c.540-20C>G
NM_019109.5(ALG1):c.540-8C>T rs2142712041
NM_019109.5(ALG1):c.54G>A (p.Leu18=)
NM_019109.5(ALG1):c.558G>T (p.Gly186=)
NM_019109.5(ALG1):c.55C>T (p.Leu19=)
NM_019109.5(ALG1):c.562C>T (p.Leu188=) rs2142712145
NM_019109.5(ALG1):c.564G>C (p.Leu188=)
NM_019109.5(ALG1):c.564G>T (p.Leu188=)
NM_019109.5(ALG1):c.567C>T (p.Ser189=)
NM_019109.5(ALG1):c.577C>T (p.Leu193=)
NM_019109.5(ALG1):c.588C>G (p.Thr196=)
NM_019109.5(ALG1):c.609G>C (p.Leu203=)
NM_019109.5(ALG1):c.612G>A (p.Ala204=)
NM_019109.5(ALG1):c.624C>T (p.His208=)
NM_019109.5(ALG1):c.629+11C>G
NM_019109.5(ALG1):c.629+13G>A
NM_019109.5(ALG1):c.629+16A>G
NM_019109.5(ALG1):c.629+17T>C
NM_019109.5(ALG1):c.629+17_629+32dup
NM_019109.5(ALG1):c.629+19A>G
NM_019109.5(ALG1):c.629+20_629+34del
NM_019109.5(ALG1):c.629+7T>C
NM_019109.5(ALG1):c.629+9G>T
NM_019109.5(ALG1):c.630-13G>A rs559171127
NM_019109.5(ALG1):c.630-13G>C rs559171127
NM_019109.5(ALG1):c.630-16C>T
NM_019109.5(ALG1):c.630-18G>A rs545873278
NM_019109.5(ALG1):c.630-18G>T
NM_019109.5(ALG1):c.630-19C>A
NM_019109.5(ALG1):c.630-19C>T rs371014838
NM_019109.5(ALG1):c.630-20C>T
NM_019109.5(ALG1):c.630-5T>C
NM_019109.5(ALG1):c.630-7A>G
NM_019109.5(ALG1):c.639C>A (p.Thr213=)
NM_019109.5(ALG1):c.645C>T (p.Tyr215=)
NM_019109.5(ALG1):c.654C>A (p.Pro218=)
NM_019109.5(ALG1):c.654C>G (p.Pro218=)
NM_019109.5(ALG1):c.657A>T (p.Ala219=)
NM_019109.5(ALG1):c.672G>A (p.Glu224=)
NM_019109.5(ALG1):c.684C>T (p.Asp228=)
NM_019109.5(ALG1):c.687G>A (p.Leu229=)
NM_019109.5(ALG1):c.696G>T (p.Arg232=)
NM_019109.5(ALG1):c.699C>G (p.Leu233=)
NM_019109.5(ALG1):c.6G>T (p.Ala2=) rs1340289136
NM_019109.5(ALG1):c.702C>T (p.Phe234=)
NM_019109.5(ALG1):c.729G>A (p.Pro243=)
NM_019109.5(ALG1):c.740+10C>T
NM_019109.5(ALG1):c.740+16T>A
NM_019109.5(ALG1):c.740+20C>T
NM_019109.5(ALG1):c.741-12C>G
NM_019109.5(ALG1):c.741-12dup
NM_019109.5(ALG1):c.741-13del rs749328532
NM_019109.5(ALG1):c.741-15T>C
NM_019109.5(ALG1):c.741-20C>T
NM_019109.5(ALG1):c.741-6C>T
NM_019109.5(ALG1):c.741-8T>C
NM_019109.5(ALG1):c.741-9C>T
NM_019109.5(ALG1):c.750T>G (p.Pro250=)
NM_019109.5(ALG1):c.756C>T (p.Asp252=) rs776990267
NM_019109.5(ALG1):c.762C>G (p.Val254=)
NM_019109.5(ALG1):c.768G>A (p.Glu256=)
NM_019109.5(ALG1):c.774G>A (p.Ser258=)
NM_019109.5(ALG1):c.783G>A (p.Thr261=)
NM_019109.5(ALG1):c.792T>C (p.Asp264=)
NM_019109.5(ALG1):c.801C>T (p.Ser267=) rs770104406
NM_019109.5(ALG1):c.813G>A (p.Thr271=)
NM_019109.5(ALG1):c.819C>G (p.Leu273=)
NM_019109.5(ALG1):c.819C>T (p.Leu273=) rs1292939104
NM_019109.5(ALG1):c.828G>A (p.Arg276=) rs2142716095
NM_019109.5(ALG1):c.834C>T (p.Ala278=)
NM_019109.5(ALG1):c.835C>T (p.Leu279=)
NM_019109.5(ALG1):c.837G>C (p.Leu279=)
NM_019109.5(ALG1):c.852G>A (p.Thr284=)
NM_019109.5(ALG1):c.862+12C>T
NM_019109.5(ALG1):c.863-10C>T
NM_019109.5(ALG1):c.863-12C>G
NM_019109.5(ALG1):c.863-15A>C rs371947976
NM_019109.5(ALG1):c.863-15A>T
NM_019109.5(ALG1):c.863-17C>A
NM_019109.5(ALG1):c.863-17C>G
NM_019109.5(ALG1):c.863-8T>C
NM_019109.5(ALG1):c.879C>T (p.Ser293=)
NM_019109.5(ALG1):c.87G>T (p.Gly29=) rs754060914
NM_019109.5(ALG1):c.883C>T (p.Leu295=)
NM_019109.5(ALG1):c.885G>C (p.Leu295=)
NM_019109.5(ALG1):c.885G>T (p.Leu295=)
NM_019109.5(ALG1):c.88C>A (p.Arg30=)
NM_019109.5(ALG1):c.901+13C>T
NM_019109.5(ALG1):c.901+16C>T
NM_019109.5(ALG1):c.901+17G>A
NM_019109.5(ALG1):c.901+18G>C
NM_019109.5(ALG1):c.901+18G>T
NM_019109.5(ALG1):c.901+20G>T
NM_019109.5(ALG1):c.902-10C>G
NM_019109.5(ALG1):c.902-16C>G
NM_019109.5(ALG1):c.902-17T>C
NM_019109.5(ALG1):c.902-20G>C
NM_019109.5(ALG1):c.902-5C>T rs1956983341
NM_019109.5(ALG1):c.902-8A>G
NM_019109.5(ALG1):c.912A>G (p.Gln304=)
NM_019109.5(ALG1):c.921T>C (p.Leu307=)
NM_019109.5(ALG1):c.921T>G (p.Leu307=)
NM_019109.5(ALG1):c.927A>G (p.Gly309=)
NM_019109.5(ALG1):c.930C>T (p.His310=)
NM_019109.5(ALG1):c.946G>A (p.Val316Ile) rs150272167
NM_019109.5(ALG1):c.951T>C (p.Cys317=)
NM_019109.5(ALG1):c.954G>A (p.Val318=) rs1291495506
NM_019109.5(ALG1):c.954G>C (p.Val318=)
NM_019109.5(ALG1):c.95C>A (p.Ala32Asp) rs376723766
NM_019109.5(ALG1):c.961+14C>A
NM_019109.5(ALG1):c.961+16C>G
NM_019109.5(ALG1):c.961+19G>T
NM_019109.5(ALG1):c.961+20G>A
NM_019109.5(ALG1):c.961+8C>G rs371353008
NM_019109.5(ALG1):c.961+8C>T rs371353008
NM_019109.5(ALG1):c.961+9T>C
NM_019109.5(ALG1):c.962-12T>C
NM_019109.5(ALG1):c.962-18C>T
NM_019109.5(ALG1):c.969G>A (p.Gly323=)
NM_019109.5(ALG1):c.969G>T (p.Gly323=)
NM_019109.5(ALG1):c.96C>A (p.Ala32=)
NM_019109.5(ALG1):c.96C>G (p.Ala32=)
NM_019109.5(ALG1):c.975G>C (p.Leu325=)
NM_019109.5(ALG1):c.97C>A (p.Arg33=)
NM_019109.5(ALG1):c.981G>A (p.Glu327=)
NM_019109.5(ALG1):c.987T>C (p.Tyr329=)
NM_019109.5(ALG1):c.996C>T (p.Leu332=)
NM_019109.5(ALG1):c.9C>T (p.Ala3=)
NM_201400.4(EEF2KMT):c.*891A>T rs3187779
NM_201400.4(EEF2KMT):c.*892A>C
NM_201400.4(EEF2KMT):c.*894T>A
NM_201400.4(EEF2KMT):c.*898G>C
NM_201400.4(EEF2KMT):c.*899A>T
NM_201400.4(EEF2KMT):c.*899del
NM_201400.4(EEF2KMT):c.*900G>C rs2142732074

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