ClinVar Miner

List of variants in gene EGLN1 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 417
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HGVS dbSNP gnomAD frequency
NM_022051.3(EGLN1):c.735T>G (p.Ser245Arg) rs764531356 0.00008
NM_022051.3(EGLN1):c.205G>C (p.Val69Leu) rs931430574 0.00006
NM_022051.3(EGLN1):c.457T>C (p.Ser153Pro) rs963834004 0.00006
NM_022051.3(EGLN1):c.325A>G (p.Lys109Glu) rs891489163 0.00005
NM_022051.3(EGLN1):c.1273G>A (p.Val425Ile) rs1472408827 0.00002
NM_022051.3(EGLN1):c.319G>T (p.Ala107Ser) rs531081279 0.00002
NM_022051.3(EGLN1):c.350C>T (p.Pro117Leu) rs1050394369 0.00002
NM_022051.3(EGLN1):c.386C>T (p.Ala129Val) rs1380554913 0.00002
NM_022051.3(EGLN1):c.934C>T (p.Arg312Cys) rs748814440 0.00002
NM_022051.3(EGLN1):c.103C>G (p.Arg35Gly) rs778100040 0.00001
NM_022051.3(EGLN1):c.1234G>A (p.Val412Ile) rs768347513 0.00001
NM_022051.3(EGLN1):c.202G>C (p.Gly68Arg) rs763530007 0.00001
NM_022051.3(EGLN1):c.245C>T (p.Ala82Val) rs771498926 0.00001
NM_022051.3(EGLN1):c.261G>C (p.Arg87Ser) rs1024909187 0.00001
NM_022051.3(EGLN1):c.272G>A (p.Arg91Gln) rs1180795317 0.00001
NM_022051.3(EGLN1):c.345G>T (p.Lys115Asn) rs1307321781 0.00001
NM_022051.3(EGLN1):c.371C>T (p.Ala124Val) rs972861708 0.00001
NM_022051.3(EGLN1):c.491C>T (p.Pro164Leu) rs770213782 0.00001
NM_022051.3(EGLN1):c.925G>T (p.Gly309Cys) rs774056264 0.00001
NM_022051.3(EGLN1):c.95G>A (p.Arg32His) rs867477927 0.00001
NM_022051.3(EGLN1):c.100A>T (p.Ser34Cys)
NM_022051.3(EGLN1):c.1012G>C (p.Val338Leu) rs1687797398
NM_022051.3(EGLN1):c.1026A>G (p.Ile342Met) rs1156457644
NM_022051.3(EGLN1):c.102C>A (p.Ser34Arg)
NM_022051.3(EGLN1):c.102C>G (p.Ser34Arg)
NM_022051.3(EGLN1):c.1035T>G (p.Ile345Met)
NM_022051.3(EGLN1):c.103C>T (p.Arg35Cys)
NM_022051.3(EGLN1):c.1040C>T (p.Pro347Leu)
NM_022051.3(EGLN1):c.1045G>A (p.Gly349Ser)
NM_022051.3(EGLN1):c.1046G>A (p.Gly349Asp)
NM_022051.3(EGLN1):c.1049A>G (p.Lys350Arg)
NM_022051.3(EGLN1):c.104G>A (p.Arg35His)
NM_022051.3(EGLN1):c.1059T>G (p.Phe353Leu)
NM_022051.3(EGLN1):c.1063G>A (p.Asp355Asn)
NM_022051.3(EGLN1):c.1066A>G (p.Ile356Val)
NM_022051.3(EGLN1):c.1072C>T (p.Pro358Ser)
NM_022051.3(EGLN1):c.1075A>C (p.Lys359Gln)
NM_022051.3(EGLN1):c.1082A>G (p.Asp361Gly)
NM_022051.3(EGLN1):c.1097T>A (p.Phe366Tyr)
NM_022051.3(EGLN1):c.109C>T (p.Arg37Cys)
NM_022051.3(EGLN1):c.1103C>T (p.Ser368Phe)
NM_022051.3(EGLN1):c.1108C>T (p.Arg370Cys)
NM_022051.3(EGLN1):c.110G>A (p.Arg37His)
NM_022051.3(EGLN1):c.1111C>T (p.Arg371Cys)
NM_022051.3(EGLN1):c.1112G>T (p.Arg371Leu)
NM_022051.3(EGLN1):c.1117C>T (p.Pro373Ser)
NM_022051.3(EGLN1):c.1129C>G (p.Gln377Glu)
NM_022051.3(EGLN1):c.1132C>T (p.Pro378Ser)
NM_022051.3(EGLN1):c.1138T>C (p.Tyr380His)
NM_022051.3(EGLN1):c.1142C>G (p.Ala381Gly)
NM_022051.3(EGLN1):c.1156A>G (p.Ile386Val)
NM_022051.3(EGLN1):c.115T>A (p.Ser39Thr)
NM_022051.3(EGLN1):c.116C>A (p.Ser39Tyr)
NM_022051.3(EGLN1):c.116C>T (p.Ser39Phe)
NM_022051.3(EGLN1):c.1174G>A (p.Asp392Asn)
NM_022051.3(EGLN1):c.1178C>G (p.Ala393Gly)
NM_022051.3(EGLN1):c.1182T>A (p.Asp394Glu) rs1572014723
NM_022051.3(EGLN1):c.1192C>T (p.Arg398Ter)
NM_022051.3(EGLN1):c.1193G>A (p.Arg398Gln)
NM_022051.3(EGLN1):c.11A>G (p.Asp4Gly)
NM_022051.3(EGLN1):c.1202T>G (p.Val401Gly)
NM_022051.3(EGLN1):c.1216G>A (p.Gly406Ser)
NM_022051.3(EGLN1):c.1217G>A (p.Gly406Asp)
NM_022051.3(EGLN1):c.1225G>C (p.Gly409Arg)
NM_022051.3(EGLN1):c.1226G>A (p.Gly409Asp)
NM_022051.3(EGLN1):c.1228G>A (p.Val410Met)
NM_022051.3(EGLN1):c.1228G>T (p.Val410Leu)
NM_022051.3(EGLN1):c.1237G>A (p.Glu413Lys)
NM_022051.3(EGLN1):c.1240C>T (p.Leu414Phe)
NM_022051.3(EGLN1):c.1243A>G (p.Asn415Asp)
NM_022051.3(EGLN1):c.1245_1247del (p.Asn415del)
NM_022051.3(EGLN1):c.1247A>G (p.Lys416Arg)
NM_022051.3(EGLN1):c.1249C>A (p.Pro417Thr)
NM_022051.3(EGLN1):c.1249C>T (p.Pro417Ser)
NM_022051.3(EGLN1):c.1250C>T (p.Pro417Leu) rs1293477221
NM_022051.3(EGLN1):c.1252T>A (p.Ser418Thr)
NM_022051.3(EGLN1):c.1253C>T (p.Ser418Leu)
NM_022051.3(EGLN1):c.1262T>C (p.Val421Ala)
NM_022051.3(EGLN1):c.1262T>G (p.Val421Gly)
NM_022051.3(EGLN1):c.1264G>T (p.Gly422Cys)
NM_022051.3(EGLN1):c.1270G>A (p.Asp424Asn)
NM_022051.3(EGLN1):c.131A>C (p.Lys44Thr)
NM_022051.3(EGLN1):c.131A>G (p.Lys44Arg)
NM_022051.3(EGLN1):c.133G>C (p.Glu45Gln)
NM_022051.3(EGLN1):c.134A>T (p.Glu45Val)
NM_022051.3(EGLN1):c.135G>T (p.Glu45Asp) rs2102948215
NM_022051.3(EGLN1):c.136C>T (p.His46Tyr)
NM_022051.3(EGLN1):c.138C>G (p.His46Gln)
NM_022051.3(EGLN1):c.139C>A (p.Gln47Lys)
NM_022051.3(EGLN1):c.13A>C (p.Ser5Arg)
NM_022051.3(EGLN1):c.142C>T (p.Arg48Cys)
NM_022051.3(EGLN1):c.143G>A (p.Arg48His)
NM_022051.3(EGLN1):c.143G>C (p.Arg48Pro)
NM_022051.3(EGLN1):c.148G>C (p.Asp50His)
NM_022051.3(EGLN1):c.148G>T (p.Asp50Tyr)
NM_022051.3(EGLN1):c.14G>A (p.Ser5Asn)
NM_022051.3(EGLN1):c.152G>C (p.Trp51Ser)
NM_022051.3(EGLN1):c.164A>G (p.Lys55Arg)
NM_022051.3(EGLN1):c.166C>T (p.Leu56Phe)
NM_022051.3(EGLN1):c.176A>G (p.Gln59Arg)
NM_022051.3(EGLN1):c.178G>A (p.Gly60Ser)
NM_022051.3(EGLN1):c.179G>T (p.Gly60Val)
NM_022051.3(EGLN1):c.184G>A (p.Glu62Lys)
NM_022051.3(EGLN1):c.187G>A (p.Gly63Ser)
NM_022051.3(EGLN1):c.188G>A (p.Gly63Asp)
NM_022051.3(EGLN1):c.190G>C (p.Ala64Pro)
NM_022051.3(EGLN1):c.193C>G (p.Leu65Val)
NM_022051.3(EGLN1):c.193C>T (p.Leu65Phe)
NM_022051.3(EGLN1):c.196G>C (p.Gly66Arg)
NM_022051.3(EGLN1):c.197G>C (p.Gly66Ala)
NM_022051.3(EGLN1):c.199C>T (p.His67Tyr)
NM_022051.3(EGLN1):c.19G>A (p.Gly7Arg)
NM_022051.3(EGLN1):c.200A>G (p.His67Arg)
NM_022051.3(EGLN1):c.202G>A (p.Gly68Arg)
NM_022051.3(EGLN1):c.203G>C (p.Gly68Ala)
NM_022051.3(EGLN1):c.205G>A (p.Val69Met)
NM_022051.3(EGLN1):c.206T>A (p.Val69Glu)
NM_022051.3(EGLN1):c.209G>C (p.Gly70Ala)
NM_022051.3(EGLN1):c.216C>A (p.His72Gln)
NM_022051.3(EGLN1):c.216C>G (p.His72Gln)
NM_022051.3(EGLN1):c.221A>C (p.His74Pro)
NM_022051.3(EGLN1):c.221A>G (p.His74Arg)
NM_022051.3(EGLN1):c.226G>A (p.Gly76Ser) rs1224937631
NM_022051.3(EGLN1):c.227G>A (p.Gly76Asp)
NM_022051.3(EGLN1):c.229C>T (p.Pro77Ser) rs920027770
NM_022051.3(EGLN1):c.230C>T (p.Pro77Leu)
NM_022051.3(EGLN1):c.236C>A (p.Pro79Gln)
NM_022051.3(EGLN1):c.236C>T (p.Pro79Leu)
NM_022051.3(EGLN1):c.238C>T (p.Pro80Ser)
NM_022051.3(EGLN1):c.239C>G (p.Pro80Arg)
NM_022051.3(EGLN1):c.23C>T (p.Pro8Leu)
NM_022051.3(EGLN1):c.241G>T (p.Ala81Ser)
NM_022051.3(EGLN1):c.242C>G (p.Ala81Gly)
NM_022051.3(EGLN1):c.247G>A (p.Val83Met) rs1451855470
NM_022051.3(EGLN1):c.247G>T (p.Val83Leu)
NM_022051.3(EGLN1):c.248T>G (p.Val83Gly)
NM_022051.3(EGLN1):c.250C>T (p.Pro84Ser)
NM_022051.3(EGLN1):c.251C>T (p.Pro84Leu)
NM_022051.3(EGLN1):c.253C>G (p.Pro85Ala) rs886046111
NM_022051.3(EGLN1):c.253C>T (p.Pro85Ser)
NM_022051.3(EGLN1):c.254C>G (p.Pro85Arg)
NM_022051.3(EGLN1):c.256C>T (p.Pro86Ser)
NM_022051.3(EGLN1):c.257C>G (p.Pro86Arg)
NM_022051.3(EGLN1):c.259A>G (p.Arg87Gly) rs1167403455
NM_022051.3(EGLN1):c.25G>A (p.Gly9Ser)
NM_022051.3(EGLN1):c.25G>C (p.Gly9Arg)
NM_022051.3(EGLN1):c.25G>T (p.Gly9Cys)
NM_022051.3(EGLN1):c.265G>A (p.Gly89Arg)
NM_022051.3(EGLN1):c.269C>A (p.Ala90Asp)
NM_022051.3(EGLN1):c.26G>C (p.Gly9Ala)
NM_022051.3(EGLN1):c.271C>G (p.Arg91Gly)
NM_022051.3(EGLN1):c.271C>T (p.Arg91Trp)
NM_022051.3(EGLN1):c.275A>C (p.Glu92Ala)
NM_022051.3(EGLN1):c.276G>T (p.Glu92Asp)
NM_022051.3(EGLN1):c.277C>T (p.Pro93Ser)
NM_022051.3(EGLN1):c.278C>G (p.Pro93Arg)
NM_022051.3(EGLN1):c.280A>T (p.Arg94Trp)
NM_022051.3(EGLN1):c.28G>A (p.Gly10Arg)
NM_022051.3(EGLN1):c.28G>C (p.Gly10Arg)
NM_022051.3(EGLN1):c.290C>A (p.Ala97Glu)
NM_022051.3(EGLN1):c.296G>A (p.Arg99His)
NM_022051.3(EGLN1):c.296G>C (p.Arg99Pro)
NM_022051.3(EGLN1):c.298C>G (p.Arg100Gly)
NM_022051.3(EGLN1):c.299G>A (p.Arg100Gln)
NM_022051.3(EGLN1):c.303C>A (p.Asp101Glu)
NM_022051.3(EGLN1):c.305A>G (p.Asn102Ser)
NM_022051.3(EGLN1):c.305A>T (p.Asn102Ile)
NM_022051.3(EGLN1):c.308C>A (p.Ala103Asp)
NM_022051.3(EGLN1):c.308C>T (p.Ala103Val)
NM_022051.3(EGLN1):c.313G>A (p.Gly105Arg)
NM_022051.3(EGLN1):c.313G>C (p.Gly105Arg)
NM_022051.3(EGLN1):c.316G>A (p.Asp106Asn)
NM_022051.3(EGLN1):c.316G>C (p.Asp106His)
NM_022051.3(EGLN1):c.317A>T (p.Asp106Val)
NM_022051.3(EGLN1):c.319G>C (p.Ala107Pro)
NM_022051.3(EGLN1):c.31C>T (p.Pro11Ser)
NM_022051.3(EGLN1):c.320C>G (p.Ala107Gly)
NM_022051.3(EGLN1):c.322G>A (p.Ala108Thr)
NM_022051.3(EGLN1):c.326A>G (p.Lys109Arg)
NM_022051.3(EGLN1):c.327G>C (p.Lys109Asn)
NM_022051.3(EGLN1):c.328G>A (p.Gly110Arg)
NM_022051.3(EGLN1):c.32C>A (p.Pro11Gln)
NM_022051.3(EGLN1):c.32C>G (p.Pro11Arg)
NM_022051.3(EGLN1):c.331A>G (p.Lys111Glu)
NM_022051.3(EGLN1):c.332A>C (p.Lys111Thr)
NM_022051.3(EGLN1):c.332A>G (p.Lys111Arg)
NM_022051.3(EGLN1):c.334G>A (p.Val112Ile)
NM_022051.3(EGLN1):c.338A>G (p.Lys113Arg)
NM_022051.3(EGLN1):c.340G>A (p.Ala114Thr)
NM_022051.3(EGLN1):c.341C>A (p.Ala114Asp)
NM_022051.3(EGLN1):c.341C>G (p.Ala114Gly)
NM_022051.3(EGLN1):c.341C>T (p.Ala114Val)
NM_022051.3(EGLN1):c.343A>G (p.Lys115Glu)
NM_022051.3(EGLN1):c.344A>C (p.Lys115Thr)
NM_022051.3(EGLN1):c.344A>G (p.Lys115Arg)
NM_022051.3(EGLN1):c.345G>C (p.Lys115Asn) rs1307321781
NM_022051.3(EGLN1):c.346C>A (p.Pro116Thr) rs944307657
NM_022051.3(EGLN1):c.347C>A (p.Pro116His)
NM_022051.3(EGLN1):c.347C>T (p.Pro116Leu)
NM_022051.3(EGLN1):c.349C>G (p.Pro117Ala)
NM_022051.3(EGLN1):c.34A>G (p.Ser12Gly)
NM_022051.3(EGLN1):c.353C>G (p.Ala118Gly)
NM_022051.3(EGLN1):c.353C>T (p.Ala118Val)
NM_022051.3(EGLN1):c.355G>C (p.Asp119His)
NM_022051.3(EGLN1):c.357C>G (p.Asp119Glu)
NM_022051.3(EGLN1):c.359C>G (p.Pro120Arg)
NM_022051.3(EGLN1):c.362C>G (p.Ala121Gly) rs1312410428
NM_022051.3(EGLN1):c.362C>T (p.Ala121Val)
NM_022051.3(EGLN1):c.364G>C (p.Ala122Pro)
NM_022051.3(EGLN1):c.365C>G (p.Ala122Gly)
NM_022051.3(EGLN1):c.365C>T (p.Ala122Val)
NM_022051.3(EGLN1):c.367G>A (p.Ala123Thr)
NM_022051.3(EGLN1):c.367G>C (p.Ala123Pro)
NM_022051.3(EGLN1):c.368C>T (p.Ala123Val)
NM_022051.3(EGLN1):c.36C>G (p.Ser12Arg)
NM_022051.3(EGLN1):c.372_392del (p.Ser125_Ala131del) rs1448568741
NM_022051.3(EGLN1):c.374C>G (p.Ser125Trp)
NM_022051.3(EGLN1):c.374C>T (p.Ser125Leu)
NM_022051.3(EGLN1):c.377C>A (p.Pro126Gln)
NM_022051.3(EGLN1):c.377C>T (p.Pro126Leu)
NM_022051.3(EGLN1):c.379T>G (p.Cys127Gly)
NM_022051.3(EGLN1):c.37C>G (p.Pro13Ala)
NM_022051.3(EGLN1):c.380G>A (p.Cys127Tyr)
NM_022051.3(EGLN1):c.380G>T (p.Cys127Phe)
NM_022051.3(EGLN1):c.381T>G (p.Cys127Trp)
NM_022051.3(EGLN1):c.382C>T (p.Arg128Cys)
NM_022051.3(EGLN1):c.383G>C (p.Arg128Pro)
NM_022051.3(EGLN1):c.385G>A (p.Ala129Thr)
NM_022051.3(EGLN1):c.385G>T (p.Ala129Ser)
NM_022051.3(EGLN1):c.386C>G (p.Ala129Gly)
NM_022051.3(EGLN1):c.389C>A (p.Ala130Asp)
NM_022051.3(EGLN1):c.38C>G (p.Pro13Arg)
NM_022051.3(EGLN1):c.38C>T (p.Pro13Leu)
NM_022051.3(EGLN1):c.394G>A (p.Gly132Ser)
NM_022051.3(EGLN1):c.395G>T (p.Gly132Val)
NM_022051.3(EGLN1):c.398G>C (p.Gly133Ala)
NM_022051.3(EGLN1):c.401A>C (p.Gln134Pro)
NM_022051.3(EGLN1):c.401A>G (p.Gln134Arg)
NM_022051.3(EGLN1):c.401A>T (p.Gln134Leu)
NM_022051.3(EGLN1):c.404G>T (p.Gly135Val)
NM_022051.3(EGLN1):c.407C>T (p.Ser136Leu)
NM_022051.3(EGLN1):c.409G>A (p.Ala137Thr)
NM_022051.3(EGLN1):c.40A>T (p.Ser14Cys)
NM_022051.3(EGLN1):c.410C>T (p.Ala137Val)
NM_022051.3(EGLN1):c.413T>G (p.Val138Gly)
NM_022051.3(EGLN1):c.416C>G (p.Ala139Gly)
NM_022051.3(EGLN1):c.418G>A (p.Ala140Thr)
NM_022051.3(EGLN1):c.418G>T (p.Ala140Ser)
NM_022051.3(EGLN1):c.422A>C (p.Glu141Ala)
NM_022051.3(EGLN1):c.423A>C (p.Glu141Asp)
NM_022051.3(EGLN1):c.424G>A (p.Ala142Thr)
NM_022051.3(EGLN1):c.425C>G (p.Ala142Gly)
NM_022051.3(EGLN1):c.427G>A (p.Glu143Lys)
NM_022051.3(EGLN1):c.429G>C (p.Glu143Asp)
NM_022051.3(EGLN1):c.429G>T (p.Glu143Asp)
NM_022051.3(EGLN1):c.430C>T (p.Pro144Ser)
NM_022051.3(EGLN1):c.433G>C (p.Gly145Arg)
NM_022051.3(EGLN1):c.434G>C (p.Gly145Ala)
NM_022051.3(EGLN1):c.436A>C (p.Lys146Gln)
NM_022051.3(EGLN1):c.438G>C (p.Lys146Asn)
NM_022051.3(EGLN1):c.443A>G (p.Glu148Gly)
NM_022051.3(EGLN1):c.445C>G (p.Pro149Ala)
NM_022051.3(EGLN1):c.446C>T (p.Pro149Leu)
NM_022051.3(EGLN1):c.451G>T (p.Ala151Ser)
NM_022051.3(EGLN1):c.452C>T (p.Ala151Val)
NM_022051.3(EGLN1):c.454C>A (p.Arg152Ser) rs1200860908
NM_022051.3(EGLN1):c.454C>G (p.Arg152Gly)
NM_022051.3(EGLN1):c.454C>T (p.Arg152Cys)
NM_022051.3(EGLN1):c.455G>A (p.Arg152His)
NM_022051.3(EGLN1):c.455G>C (p.Arg152Pro)
NM_022051.3(EGLN1):c.458C>T (p.Ser153Leu)
NM_022051.3(EGLN1):c.461C>T (p.Ser154Leu)
NM_022051.3(EGLN1):c.463C>G (p.Leu155Val)
NM_022051.3(EGLN1):c.467T>A (p.Phe156Tyr)
NM_022051.3(EGLN1):c.467T>G (p.Phe156Cys)
NM_022051.3(EGLN1):c.469C>G (p.Gln157Glu)
NM_022051.3(EGLN1):c.470A>C (p.Gln157Pro)
NM_022051.3(EGLN1):c.477G>C (p.Lys159Asn)
NM_022051.3(EGLN1):c.477G>T (p.Lys159Asn) rs766985056
NM_022051.3(EGLN1):c.479C>A (p.Ala160Glu)
NM_022051.3(EGLN1):c.47G>A (p.Arg16Gln)
NM_022051.3(EGLN1):c.482A>G (p.Asn161Ser)
NM_022051.3(EGLN1):c.484C>G (p.Leu162Val)
NM_022051.3(EGLN1):c.487T>A (p.Tyr163Asn)
NM_022051.3(EGLN1):c.487T>G (p.Tyr163Asp)
NM_022051.3(EGLN1):c.488A>G (p.Tyr163Cys)
NM_022051.3(EGLN1):c.490C>A (p.Pro164Thr) rs1407678909
NM_022051.3(EGLN1):c.490C>G (p.Pro164Ala)
NM_022051.3(EGLN1):c.490C>T (p.Pro164Ser)
NM_022051.3(EGLN1):c.494C>G (p.Pro165Arg)
NM_022051.3(EGLN1):c.494C>T (p.Pro165Leu)
NM_022051.3(EGLN1):c.496A>G (p.Ser166Gly)
NM_022051.3(EGLN1):c.497G>C (p.Ser166Thr)
NM_022051.3(EGLN1):c.49G>T (p.Asp17Tyr)
NM_022051.3(EGLN1):c.500A>C (p.Asn167Thr)
NM_022051.3(EGLN1):c.500A>G (p.Asn167Ser)
NM_022051.3(EGLN1):c.502A>G (p.Thr168Ala)
NM_022051.3(EGLN1):c.505C>T (p.Pro169Ser)
NM_022051.3(EGLN1):c.508G>A (p.Gly170Arg)
NM_022051.3(EGLN1):c.511G>A (p.Asp171Asn)
NM_022051.3(EGLN1):c.511G>C (p.Asp171His)
NM_022051.3(EGLN1):c.514G>A (p.Ala172Thr)
NM_022051.3(EGLN1):c.517C>A (p.Leu173Met)
NM_022051.3(EGLN1):c.518T>A (p.Leu173Gln)
NM_022051.3(EGLN1):c.518T>C (p.Leu173Pro)
NM_022051.3(EGLN1):c.520A>T (p.Ser174Cys)
NM_022051.3(EGLN1):c.523C>G (p.Pro175Ala)
NM_022051.3(EGLN1):c.524C>T (p.Pro175Leu)
NM_022051.3(EGLN1):c.52C>T (p.Arg18Trp)
NM_022051.3(EGLN1):c.530G>A (p.Gly177Asp)
NM_022051.3(EGLN1):c.532G>C (p.Gly178Arg)
NM_022051.3(EGLN1):c.533G>T (p.Gly178Val)
NM_022051.3(EGLN1):c.536T>G (p.Leu179Arg)
NM_022051.3(EGLN1):c.538C>T (p.Arg180Trp)
NM_022051.3(EGLN1):c.539G>C (p.Arg180Pro)
NM_022051.3(EGLN1):c.539G>T (p.Arg180Leu)
NM_022051.3(EGLN1):c.53G>A (p.Arg18Gln) rs886046112
NM_022051.3(EGLN1):c.541C>T (p.Pro181Ser)
NM_022051.3(EGLN1):c.544A>C (p.Asn182His)
NM_022051.3(EGLN1):c.544A>G (p.Asn182Asp)
NM_022051.3(EGLN1):c.544A>T (p.Asn182Tyr)
NM_022051.3(EGLN1):c.545A>G (p.Asn182Ser)
NM_022051.3(EGLN1):c.554C>T (p.Thr185Met)
NM_022051.3(EGLN1):c.559C>A (p.Pro187Thr)
NM_022051.3(EGLN1):c.559C>T (p.Pro187Ser)
NM_022051.3(EGLN1):c.560C>T (p.Pro187Leu)
NM_022051.3(EGLN1):c.562C>A (p.Leu188Met)
NM_022051.3(EGLN1):c.563T>G (p.Leu188Arg)
NM_022051.3(EGLN1):c.565C>T (p.Pro189Ser)
NM_022051.3(EGLN1):c.566C>T (p.Pro189Leu)
NM_022051.3(EGLN1):c.568_569delinsTT (p.Ala190Leu) rs1558086261
NM_022051.3(EGLN1):c.574A>C (p.Lys192Gln)
NM_022051.3(EGLN1):c.581C>T (p.Ala194Val)
NM_022051.3(EGLN1):c.58T>C (p.Tyr20His)
NM_022051.3(EGLN1):c.592A>C (p.Ile198Leu)
NM_022051.3(EGLN1):c.592A>T (p.Ile198Phe)
NM_022051.3(EGLN1):c.598C>T (p.Pro200Ser)
NM_022051.3(EGLN1):c.599C>A (p.Pro200Gln)
NM_022051.3(EGLN1):c.599C>T (p.Pro200Leu)
NM_022051.3(EGLN1):c.604A>T (p.Met202Leu)
NM_022051.3(EGLN1):c.606G>A (p.Met202Ile)
NM_022051.3(EGLN1):c.608A>T (p.Asn203Ile)
NM_022051.3(EGLN1):c.610A>G (p.Lys204Glu)
NM_022051.3(EGLN1):c.611A>T (p.Lys204Met)
NM_022051.3(EGLN1):c.616G>A (p.Gly206Ser)
NM_022051.3(EGLN1):c.616G>C (p.Gly206Arg)
NM_022051.3(EGLN1):c.633C>A (p.Asp211Glu)
NM_022051.3(EGLN1):c.644G>T (p.Gly215Val)
NM_022051.3(EGLN1):c.646A>C (p.Lys216Gln)
NM_022051.3(EGLN1):c.646A>G (p.Lys216Glu)
NM_022051.3(EGLN1):c.647A>G (p.Lys216Arg)
NM_022051.3(EGLN1):c.648G>C (p.Lys216Asn)
NM_022051.3(EGLN1):c.649G>A (p.Glu217Lys)
NM_022051.3(EGLN1):c.64G>A (p.Glu22Lys)
NM_022051.3(EGLN1):c.64G>C (p.Glu22Gln)
NM_022051.3(EGLN1):c.652A>G (p.Thr218Ala)
NM_022051.3(EGLN1):c.658C>A (p.Gln220Lys)
NM_022051.3(EGLN1):c.662A>G (p.Gln221Arg)
NM_022051.3(EGLN1):c.662_663delinsGT (p.Gln221Arg)
NM_022051.3(EGLN1):c.663G>C (p.Gln221His)
NM_022051.3(EGLN1):c.663G>T (p.Gln221His)
NM_022051.3(EGLN1):c.664A>G (p.Ile222Val)
NM_022051.3(EGLN1):c.673G>A (p.Glu225Lys)
NM_022051.3(EGLN1):c.679C>G (p.Arg227Gly)
NM_022051.3(EGLN1):c.680G>A (p.Arg227His)
NM_022051.3(EGLN1):c.691G>A (p.Asp231Asn)
NM_022051.3(EGLN1):c.692A>G (p.Asp231Gly)
NM_022051.3(EGLN1):c.694A>G (p.Thr232Ala)
NM_022051.3(EGLN1):c.695C>T (p.Thr232Ile)
NM_022051.3(EGLN1):c.702G>C (p.Lys234Asn)
NM_022051.3(EGLN1):c.705C>G (p.Phe235Leu)
NM_022051.3(EGLN1):c.706A>G (p.Thr236Ala)
NM_022051.3(EGLN1):c.707C>A (p.Thr236Lys)
NM_022051.3(EGLN1):c.707C>T (p.Thr236Met)
NM_022051.3(EGLN1):c.709G>C (p.Asp237His)
NM_022051.3(EGLN1):c.711C>A (p.Asp237Glu)
NM_022051.3(EGLN1):c.722T>C (p.Val241Ala)
NM_022051.3(EGLN1):c.733A>G (p.Ser245Gly)
NM_022051.3(EGLN1):c.734G>A (p.Ser245Asn)
NM_022051.3(EGLN1):c.734G>C (p.Ser245Thr)
NM_022051.3(EGLN1):c.73G>A (p.Gly25Arg)
NM_022051.3(EGLN1):c.740C>G (p.Ser247Trp)
NM_022051.3(EGLN1):c.740C>T (p.Ser247Leu)
NM_022051.3(EGLN1):c.742T>C (p.Ser248Pro)
NM_022051.3(EGLN1):c.743C>T (p.Ser248Phe)
NM_022051.3(EGLN1):c.746A>G (p.Lys249Arg)
NM_022051.3(EGLN1):c.748G>A (p.Asp250Asn)
NM_022051.3(EGLN1):c.757G>A (p.Gly253Ser)
NM_022051.3(EGLN1):c.770C>G (p.Thr257Ser)
NM_022051.3(EGLN1):c.770C>T (p.Thr257Ile)
NM_022051.3(EGLN1):c.775A>G (p.Ile259Val)
NM_022051.3(EGLN1):c.77A>G (p.Lys26Arg)
NM_022051.3(EGLN1):c.79A>T (p.Met27Leu)
NM_022051.3(EGLN1):c.7A>G (p.Asn3Asp)
NM_022051.3(EGLN1):c.80T>C (p.Met27Thr)
NM_022051.3(EGLN1):c.88C>G (p.Leu30Val)
NM_022051.3(EGLN1):c.902C>T (p.Ala301Val)
NM_022051.3(EGLN1):c.908A>T (p.Tyr303Phe)
NM_022051.3(EGLN1):c.911C>T (p.Pro304Leu)
NM_022051.3(EGLN1):c.919G>A (p.Gly307Arg)
NM_022051.3(EGLN1):c.923C>T (p.Thr308Met)
NM_022051.3(EGLN1):c.94C>A (p.Arg32Ser)
NM_022051.3(EGLN1):c.94C>T (p.Arg32Cys)
NM_022051.3(EGLN1):c.950C>G (p.Pro317Arg) rs80358193
NM_022051.3(EGLN1):c.953A>G (p.Asn318Ser)
NM_022051.3(EGLN1):c.955G>A (p.Gly319Arg)
NM_022051.3(EGLN1):c.961G>A (p.Gly321Arg)
NM_022051.3(EGLN1):c.965G>A (p.Arg322Lys)
NM_022051.3(EGLN1):c.970G>A (p.Val324Met)
NM_022051.3(EGLN1):c.977G>A (p.Cys326Tyr)
NM_022051.3(EGLN1):c.979A>G (p.Ile327Val)
NM_022051.3(EGLN1):c.980T>C (p.Ile327Thr) rs2102898186
NM_022051.3(EGLN1):c.995_1000del (p.Lys332_Trp334delinsArg)
NM_022051.3(EGLN1):c.996A>T (p.Lys332Asn)
NM_022051.3(EGLN1):c.997G>T (p.Asp333Tyr)
NM_022051.3(EGLN1):c.999C>G (p.Asp333Glu)
NM_022051.3(EGLN1):c.9T>G (p.Asn3Lys)

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