ClinVar Miner

List of variants in gene PHGDH studied for amino acid metabolism disease

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 761
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HGVS dbSNP gnomAD frequency
NM_006623.4(PHGDH):c.1209+149A>T rs627070 0.70206
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) rs543703 0.69798
NM_006623.3(PHGDH):c.-140A>G rs561931 0.61476
NM_006623.4(PHGDH):c.138+2327T>C rs637868 0.55284
NM_006623.4(PHGDH):c.139-13T>C rs894078 0.01680
NM_006623.4(PHGDH):c.318C>T (p.Ala106=) rs115747918 0.01251
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_006623.4(PHGDH):c.357-17T>C rs76447100 0.00863
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val) rs77632964 0.00622
NM_006623.4(PHGDH):c.*151C>G rs112584109 0.00373
NM_006623.4(PHGDH):c.1158G>T (p.Ala386=) rs144484007 0.00191
NM_006623.4(PHGDH):c.624T>C (p.Pro208=) rs77401816 0.00154
NM_006623.4(PHGDH):c.510+6A>G rs371736796 0.00133
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu) rs151275800 0.00101
NM_006623.4(PHGDH):c.*140A>G rs587687027 0.00095
NM_006623.4(PHGDH):c.1208A>G (p.Asn403Ser) rs139827025 0.00091
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843 0.00083
NM_006623.4(PHGDH):c.291-18C>A rs199604131 0.00078
NM_006623.4(PHGDH):c.*165_*166insGTAG rs140037378 0.00070
NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser) rs201298102 0.00064
NM_006623.4(PHGDH):c.834C>A (p.Val278=) rs147866831 0.00051
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg) rs182600362 0.00030
NM_006623.4(PHGDH):c.1209+19C>T rs367917607 0.00026
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325 0.00026
NM_006623.4(PHGDH):c.356+13C>G rs184901459 0.00026
NM_006623.4(PHGDH):c.412-15C>T rs368681081 0.00021
NM_006623.4(PHGDH):c.1258G>A (p.Glu420Lys) rs140979375 0.00019
NM_006623.4(PHGDH):c.411+9C>T rs187075075 0.00019
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=) rs374303746 0.00016
NM_006623.4(PHGDH):c.-79T>C rs747803505 0.00013
NM_006623.4(PHGDH):c.572T>A (p.Leu191Gln) rs369944394 0.00013
NM_006623.4(PHGDH):c.743C>T (p.Ala248Val) rs201782441 0.00013
NM_006623.4(PHGDH):c.390C>T (p.Asp130=) rs148078511 0.00012
NM_006623.4(PHGDH):c.643+17A>C rs772910115 0.00012
NM_006623.4(PHGDH):c.644-12G>A rs370255821 0.00012
NM_006623.4(PHGDH):c.1346A>G (p.Asn449Ser) rs141662984 0.00011
NM_006623.4(PHGDH):c.139-19A>G rs773408065 0.00011
NM_006623.4(PHGDH):c.689G>A (p.Arg230His) rs777155018 0.00011
NM_006623.4(PHGDH):c.1543C>T (p.Leu515=) rs148721434 0.00010
NM_006623.4(PHGDH):c.643+9G>A rs377674470 0.00010
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile) rs200037593 0.00009
NM_006623.4(PHGDH):c.723C>T (p.Asp241=) rs150682021 0.00009
NM_006623.3(PHGDH):c.-183G>A rs886045202 0.00008
NM_006623.4(PHGDH):c.1560G>A (p.Ala520=) rs145788723 0.00008
NM_006623.4(PHGDH):c.181G>A (p.Ala61Thr) rs140185619 0.00008
NM_006623.4(PHGDH):c.780C>T (p.Asp260=) rs146220907 0.00008
NM_006623.4(PHGDH):c.261C>T (p.Ala87=) rs761309245 0.00007
NM_006623.4(PHGDH):c.511-7C>T rs748335207 0.00007
NM_006623.4(PHGDH):c.910G>A (p.Val304Met) rs149175408 0.00007
NM_006623.3(PHGDH):c.-207G>A rs150128831 0.00006
NM_006623.4(PHGDH):c.*28G>A rs753765228 0.00006
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg) rs145344767 0.00006
NM_006623.4(PHGDH):c.1467C>T (p.Gly489=) rs754658401 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_006623.4(PHGDH):c.1515C>G (p.Thr505=) rs201529203 0.00006
NM_006623.4(PHGDH):c.375G>A (p.Thr125=) rs754365384 0.00006
NM_006623.4(PHGDH):c.510+14G>A rs763333293 0.00006
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys) rs147066269 0.00006
NM_006623.4(PHGDH):c.739C>T (p.Arg247Trp) rs768347730 0.00006
NM_006623.4(PHGDH):c.809G>A (p.Arg270Gln) rs375031910 0.00006
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr) rs142988234 0.00005
NM_006623.4(PHGDH):c.34A>G (p.Ser12Gly) rs764316050 0.00005
NM_006623.4(PHGDH):c.372G>A (p.Ala124=) rs146740411 0.00005
NM_006623.4(PHGDH):c.549G>A (p.Ser183=) rs776140200 0.00005
NM_006623.4(PHGDH):c.881G>A (p.Arg294His) rs147049991 0.00005
NM_006623.4(PHGDH):c.916A>G (p.Met306Val) rs587648058 0.00005
NM_006623.4(PHGDH):c.946G>A (p.Val316Met) rs146398308 0.00005
NM_006623.4(PHGDH):c.1078+3G>A rs755057495 0.00004
NM_006623.4(PHGDH):c.1116C>T (p.Pro372=) rs587662790 0.00004
NM_006623.4(PHGDH):c.1128C>T (p.Val376=) rs199677303 0.00004
NM_006623.4(PHGDH):c.1176C>T (p.Asn392=) rs764196357 0.00004
NM_006623.4(PHGDH):c.1209+3G>C rs771825779 0.00004
NM_006623.4(PHGDH):c.1254C>T (p.Phe418=) rs763258512 0.00004
NM_006623.4(PHGDH):c.1575G>T (p.Val525=) rs587681898 0.00004
NM_006623.4(PHGDH):c.412-6T>C rs762278325 0.00004
NM_006623.4(PHGDH):c.514A>G (p.Ile172Val) rs749677150 0.00004
NM_006623.4(PHGDH):c.1044G>T (p.Gly348=) rs761417256 0.00003
NM_006623.4(PHGDH):c.1224C>T (p.His408=) rs746907048 0.00003
NM_006623.4(PHGDH):c.139-17T>A rs191621265 0.00003
NM_006623.4(PHGDH):c.1401A>G (p.Leu467=) rs768039058 0.00003
NM_006623.4(PHGDH):c.226G>T (p.Ala76Ser) rs200509653 0.00003
NM_006623.4(PHGDH):c.486C>A (p.Thr162=) rs1054405028 0.00003
NM_006623.4(PHGDH):c.644-13C>T rs761863796 0.00003
NM_006623.4(PHGDH):c.718G>A (p.Val240Met) rs765276824 0.00003
NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp) rs142622658 0.00003
NM_006623.4(PHGDH):c.903T>G (p.Val301=) rs777075726 0.00003
NM_006623.4(PHGDH):c.932C>T (p.Ser311Phe) rs143340742 0.00003
NM_006623.4(PHGDH):c.980C>T (p.Pro327Leu) rs778021683 0.00003
NM_006623.3(PHGDH):c.-222G>A rs60544490 0.00002
NM_006623.4(PHGDH):c.1096G>T (p.Ala366Ser) rs138515760 0.00002
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser) rs267606948 0.00002
NM_006623.4(PHGDH):c.1149C>T (p.Ser383=) rs145449458 0.00002
NM_006623.4(PHGDH):c.1272C>T (p.Ala424=) rs61743646 0.00002
NM_006623.4(PHGDH):c.1285G>C (p.Gly429Arg) rs145854744 0.00002
NM_006623.4(PHGDH):c.1362G>T (p.Arg454Ser) rs140457132 0.00002
NM_006623.4(PHGDH):c.1365A>G (p.Pro455=) rs1264262485 0.00002
NM_006623.4(PHGDH):c.1406G>A (p.Arg469Gln) rs139764141 0.00002
NM_006623.4(PHGDH):c.1447+9G>A rs200578872 0.00002
NM_006623.4(PHGDH):c.1521C>T (p.His507=) rs145182036 0.00002
NM_006623.4(PHGDH):c.222C>A (p.Gly74=) rs746248451 0.00002
NM_006623.4(PHGDH):c.374C>T (p.Thr125Met) rs764618040 0.00002
NM_006623.4(PHGDH):c.400G>A (p.Glu134Lys) rs139129607 0.00002
NM_006623.4(PHGDH):c.404G>A (p.Arg135Gln) rs774423823 0.00002
NM_006623.4(PHGDH):c.411+10G>A rs754273367 0.00002
NM_006623.4(PHGDH):c.429G>A (p.Leu143=) rs1417980204 0.00002
NM_006623.4(PHGDH):c.511-4C>A rs1294928573 0.00002
NM_006623.4(PHGDH):c.644-4C>T rs750611174 0.00002
NM_006623.4(PHGDH):c.745C>T (p.Leu249=) rs779555619 0.00002
NM_006623.4(PHGDH):c.772G>T (p.Ala258Ser) rs1375551954 0.00002
NM_006623.4(PHGDH):c.788C>T (p.Thr263Met) rs773221019 0.00002
NM_006623.4(PHGDH):c.793-16A>G rs182868038 0.00002
NM_006623.4(PHGDH):c.793-17T>C rs777684647 0.00002
NM_006623.4(PHGDH):c.793-6G>T rs759639493 0.00002
NM_006623.4(PHGDH):c.804G>A (p.Arg268=) rs587719252 0.00002
NM_006623.4(PHGDH):c.909C>T (p.Phe303=) rs762185673 0.00002
NM_006623.4(PHGDH):c.1017G>A (p.Leu339=) rs768115742 0.00001
NM_006623.4(PHGDH):c.1024C>T (p.Leu342=) rs1416033860 0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568 0.00001
NM_006623.4(PHGDH):c.1041T>G (p.Ala347=) rs1374696914 0.00001
NM_006623.4(PHGDH):c.1078+20G>T rs988452433 0.00001
NM_006623.4(PHGDH):c.1079-7T>C rs766319430 0.00001
NM_006623.4(PHGDH):c.1079-8G>A rs1180990036 0.00001
NM_006623.4(PHGDH):c.111C>T (p.Ser37=) rs1270606502 0.00001
NM_006623.4(PHGDH):c.1132C>T (p.Leu378Phe) rs1047310984 0.00001
NM_006623.4(PHGDH):c.1143G>C (p.Glu381Asp) rs774132406 0.00001
NM_006623.4(PHGDH):c.1151A>G (p.Lys384Arg) rs1299589464 0.00001
NM_006623.4(PHGDH):c.1179T>C (p.Ala393=) rs754034829 0.00001
NM_006623.4(PHGDH):c.1193A>G (p.Lys398Arg) rs765542839 0.00001
NM_006623.4(PHGDH):c.1194A>G (p.Lys398=) rs747965439 0.00001
NM_006623.4(PHGDH):c.119A>G (p.Glu40Gly) rs778630047 0.00001
NM_006623.4(PHGDH):c.1209+4C>T rs199611972 0.00001
NM_006623.4(PHGDH):c.1218C>T (p.Thr406=) rs771737948 0.00001
NM_006623.4(PHGDH):c.1227C>T (p.Ser409=) rs768582720 0.00001
NM_006623.4(PHGDH):c.1245G>A (p.Glu415=) rs769982653 0.00001
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met) rs121907988 0.00001
NM_006623.4(PHGDH):c.1290C>T (p.Ala430=) rs1393433949 0.00001
NM_006623.4(PHGDH):c.129G>A (p.Ala43=) rs587623477 0.00001
NM_006623.4(PHGDH):c.1335G>T (p.Leu445=) rs768496348 0.00001
NM_006623.4(PHGDH):c.135G>T (p.Leu45=) rs1352826557 0.00001
NM_006623.4(PHGDH):c.1415C>T (p.Thr472Ile) rs966613179 0.00001
NM_006623.4(PHGDH):c.1429A>G (p.Met477Val) rs1249140637 0.00001
NM_006623.4(PHGDH):c.1434G>A (p.Leu478=) rs1420781632 0.00001
NM_006623.4(PHGDH):c.1447+13C>T rs143612626 0.00001
NM_006623.4(PHGDH):c.1450C>T (p.Leu484Phe) rs200693896 0.00001
NM_006623.4(PHGDH):c.1461G>A (p.Glu487=) rs1005068896 0.00001
NM_006623.4(PHGDH):c.1500G>C (p.Val500=) rs755921813 0.00001
NM_006623.4(PHGDH):c.1534T>G (p.Ser512Ala) rs375098288 0.00001
NM_006623.4(PHGDH):c.1595A>G (p.His532Arg) rs959684288 0.00001
NM_006623.4(PHGDH):c.160C>T (p.Arg54Cys) rs779687118 0.00001
NM_006623.4(PHGDH):c.162C>T (p.Arg54=) rs754900737 0.00001
NM_006623.4(PHGDH):c.180C>T (p.Thr60=) rs769991971 0.00001
NM_006623.4(PHGDH):c.195C>T (p.Asn65=) rs771208719 0.00001
NM_006623.4(PHGDH):c.202G>A (p.Glu68Lys) rs774538219 0.00001
NM_006623.4(PHGDH):c.21G>C (p.Arg7=) rs1650717107 0.00001
NM_006623.4(PHGDH):c.225G>A (p.Arg75=) rs1441422663 0.00001
NM_006623.4(PHGDH):c.22A>T (p.Lys8Ter) rs1650717188 0.00001
NM_006623.4(PHGDH):c.25G>C (p.Val9Leu) rs199784256 0.00001
NM_006623.4(PHGDH):c.290+17G>A rs375876858 0.00001
NM_006623.4(PHGDH):c.290+18C>T rs779206688 0.00001
NM_006623.4(PHGDH):c.291-8A>G rs775356901 0.00001
NM_006623.4(PHGDH):c.306C>T (p.Asn102=) rs761693145 0.00001
NM_006623.4(PHGDH):c.353C>T (p.Ala118Val) rs780272429 0.00001
NM_006623.4(PHGDH):c.357-10A>G rs773131387 0.00001
NM_006623.4(PHGDH):c.357-1G>A rs766427173 0.00001
NM_006623.4(PHGDH):c.357-8C>T rs762922421 0.00001
NM_006623.4(PHGDH):c.366C>G (p.Pro122=) rs1210498938 0.00001
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp) rs772067625 0.00001
NM_006623.4(PHGDH):c.48C>T (p.Asp16=) rs765678440 0.00001
NM_006623.4(PHGDH):c.496T>C (p.Ser166Pro) rs149631480 0.00001
NM_006623.4(PHGDH):c.526C>G (p.Pro176Ala) rs1031257536 0.00001
NM_006623.4(PHGDH):c.534T>C (p.Ile178=) rs1467975689 0.00001
NM_006623.4(PHGDH):c.548C>T (p.Ser183Leu) rs376632509 0.00001
NM_006623.4(PHGDH):c.54C>T (p.Cys18=) rs1236966373 0.00001
NM_006623.4(PHGDH):c.550G>A (p.Ala184Thr) rs956791237 0.00001
NM_006623.4(PHGDH):c.566A>C (p.Gln189Pro) rs750124525 0.00001
NM_006623.4(PHGDH):c.571C>T (p.Leu191=) rs988162080 0.00001
NM_006623.4(PHGDH):c.582G>A (p.Glu194=) rs751522281 0.00001
NM_006623.4(PHGDH):c.597C>T (p.Leu199=) rs1337925565 0.00001
NM_006623.4(PHGDH):c.634T>G (p.Ser212Ala) rs374083753 0.00001
NM_006623.4(PHGDH):c.639G>A (p.Thr213=) rs1489385483 0.00001
NM_006623.4(PHGDH):c.643+7G>A rs943894952 0.00001
NM_006623.4(PHGDH):c.67T>C (p.Leu23=) rs1650719894 0.00001
NM_006623.4(PHGDH):c.684G>A (p.Gly228=) rs745471026 0.00001
NM_006623.4(PHGDH):c.707G>A (p.Arg236His) rs776544484 0.00001
NM_006623.4(PHGDH):c.70C>T (p.Gln24Ter) rs1418800829 0.00001
NM_006623.4(PHGDH):c.732C>T (p.Ala244=) rs767968310 0.00001
NM_006623.4(PHGDH):c.758A>G (p.Gln253Arg) rs1026407182 0.00001
NM_006623.4(PHGDH):c.75T>C (p.Asp25=) rs752195785 0.00001
NM_006623.4(PHGDH):c.765C>T (p.Ala255=) rs138939987 0.00001
NM_006623.4(PHGDH):c.774A>G (p.Ala258=) rs587668968 0.00001
NM_006623.4(PHGDH):c.786T>C (p.Phe262=) rs1221851702 0.00001
NM_006623.4(PHGDH):c.787A>G (p.Thr263Ala) rs1651889178 0.00001
NM_006623.4(PHGDH):c.797C>T (p.Pro266Leu) rs775936961 0.00001
NM_006623.4(PHGDH):c.798G>A (p.Pro266=) rs761104723 0.00001
NM_006623.4(PHGDH):c.81G>C (p.Gly27=) rs1157171557 0.00001
NM_006623.4(PHGDH):c.822C>A (p.Asp274Glu) rs370045696 0.00001
NM_006623.4(PHGDH):c.827A>C (p.Glu276Ala) rs1651975372 0.00001
NM_006623.4(PHGDH):c.849C>T (p.His283=) rs1651976766 0.00001
NM_006623.4(PHGDH):c.880C>T (p.Arg294Cys) rs1390624793 0.00001
NM_006623.4(PHGDH):c.882C>T (p.Arg294=) rs778794269 0.00001
NM_006623.4(PHGDH):c.90G>C (p.Val30=) rs376722247 0.00001
NM_006623.4(PHGDH):c.925G>A (p.Gly309Arg) rs1445772566 0.00001
NM_006623.4(PHGDH):c.927G>A (p.Gly309=) rs1232037305 0.00001
NM_006623.4(PHGDH):c.945+15C>T rs1244270161 0.00001
NM_006623.4(PHGDH):c.946-11A>G rs1003480319 0.00001
NM_006623.4(PHGDH):c.946-20C>T rs202074277 0.00001
NM_006623.4(PHGDH):c.946-6C>T rs199629505 0.00001
NC_000001.10:g.(?_120254418)_(120254784_120263792)del
NC_000001.10:g.(?_120254636)_(120286673_?)del
NC_000001.10:g.(?_120277237)_(120278086_?)del
NC_000001.10:g.(?_120277247)_(120277399_?)del
NM_006623.3(PHGDH):c.-101G>C rs562038
NM_006623.4(PHGDH):c.*58G>C rs1652337689
NM_006623.4(PHGDH):c.*8G>A rs1652335587
NM_006623.4(PHGDH):c.-11C>T rs886045203
NM_006623.4(PHGDH):c.1003C>T (p.Leu335=) rs2101216283
NM_006623.4(PHGDH):c.1007C>T (p.Ala336Val) rs760161275
NM_006623.4(PHGDH):c.102G>A (p.Gln34=)
NM_006623.4(PHGDH):c.1031G>A (p.Arg344Gln)
NM_006623.4(PHGDH):c.1034C>T (p.Ala345Val)
NM_006623.4(PHGDH):c.1035C>A (p.Ala345=) rs1477345994
NM_006623.4(PHGDH):c.1035C>T (p.Ala345=) rs1477345994
NM_006623.4(PHGDH):c.1047C>G (p.Ser349=)
NM_006623.4(PHGDH):c.1047C>T (p.Ser349=)
NM_006623.4(PHGDH):c.1051A>G (p.Lys351Glu) rs1303930828
NM_006623.4(PHGDH):c.105C>T (p.Asn35=)
NM_006623.4(PHGDH):c.1063C>T (p.Gln355Ter) rs979237677
NM_006623.4(PHGDH):c.1069A>G (p.Ile357Val)
NM_006623.4(PHGDH):c.1075C>T (p.Gln359Ter) rs1652150288
NM_006623.4(PHGDH):c.1078+10G>A
NM_006623.4(PHGDH):c.1078+10G>T rs374994783
NM_006623.4(PHGDH):c.1078+11G>T
NM_006623.4(PHGDH):c.1078+18C>T
NM_006623.4(PHGDH):c.1078+1G>A rs1224279673
NM_006623.4(PHGDH):c.1078+7T>C rs2101216709
NM_006623.4(PHGDH):c.1079-14C>T rs755593718
NM_006623.4(PHGDH):c.1079-17C>G
NM_006623.4(PHGDH):c.1079-2A>G rs2101220673
NM_006623.4(PHGDH):c.1079-51_1079-19del rs1652215363
NM_006623.4(PHGDH):c.1079-6C>T
NM_006623.4(PHGDH):c.1079-9T>C rs2101220637
NM_006623.4(PHGDH):c.107T>C (p.Leu36Pro) rs904243407
NM_006623.4(PHGDH):c.1086C>T (p.Ser362=)
NM_006623.4(PHGDH):c.1089G>C (p.Leu363=)
NM_006623.4(PHGDH):c.1089del (p.Lys364fs)
NM_006623.4(PHGDH):c.109A>G (p.Ser37Gly)
NM_006623.4(PHGDH):c.1100G>C (p.Gly367Ala) rs768838647
NM_006623.4(PHGDH):c.1108C>T (p.Leu370=)
NM_006623.4(PHGDH):c.1110A>G (p.Leu370=)
NM_006623.4(PHGDH):c.1112G>A (p.Ser371Asn)
NM_006623.4(PHGDH):c.1113C>T (p.Ser371=)
NM_006623.4(PHGDH):c.1117G>A (p.Ala373Thr) rs201553627
NM_006623.4(PHGDH):c.1117G>T (p.Ala373Ser)
NM_006623.4(PHGDH):c.1120G>C (p.Val374Leu)
NM_006623.4(PHGDH):c.1122C>A (p.Val374=) rs2101220979
NM_006623.4(PHGDH):c.1128C>G (p.Val376=)
NM_006623.4(PHGDH):c.1131C>G (p.Gly377=)
NM_006623.4(PHGDH):c.1137G>C (p.Leu379=) rs144019971
NM_006623.4(PHGDH):c.1140A>G (p.Lys380=)
NM_006623.4(PHGDH):c.1146T>C (p.Ala382=) rs2101221161
NM_006623.4(PHGDH):c.1153C>T (p.Gln385Ter) rs2101221217
NM_006623.4(PHGDH):c.1157C>T (p.Ala386Val)
NM_006623.4(PHGDH):c.1158G>A (p.Ala386=) rs144484007
NM_006623.4(PHGDH):c.1177G>A (p.Ala393Thr)
NM_006623.4(PHGDH):c.117_118delinsCT (p.Glu39_Glu40delinsAspTer) rs2101136632
NM_006623.4(PHGDH):c.1185G>C (p.Leu395=) rs1652224641
NM_006623.4(PHGDH):c.1185G>T (p.Leu395=)
NM_006623.4(PHGDH):c.1186del (p.Leu396fs) rs1652224758
NM_006623.4(PHGDH):c.118G>T (p.Glu40Ter) rs1650721954
NM_006623.4(PHGDH):c.118_119delinsTT (p.Glu40Leu) rs2101136638
NM_006623.4(PHGDH):c.1197G>A (p.Glu399=) rs758882501
NM_006623.4(PHGDH):c.1197_1198delinsTT (p.Glu399_Ala400delinsAspSer) rs2101221402
NM_006623.4(PHGDH):c.1206C>T (p.Leu402=)
NM_006623.4(PHGDH):c.1209+14C>T
NM_006623.4(PHGDH):c.1209+16C>T
NM_006623.4(PHGDH):c.1209+17C>A rs587674701
NM_006623.4(PHGDH):c.1209+17C>G rs587674701
NM_006623.4(PHGDH):c.1209+17C>T rs587674701
NM_006623.4(PHGDH):c.1209+19C>G
NM_006623.4(PHGDH):c.1209+20G>A
NM_006623.4(PHGDH):c.1209+5G>T
NM_006623.4(PHGDH):c.1209+6C>A rs774142037
NM_006623.4(PHGDH):c.1209+7C>T
NM_006623.4(PHGDH):c.1209+9C>A
NM_006623.4(PHGDH):c.1209+9C>T rs745641174
NM_006623.4(PHGDH):c.1209+9del rs776173839
NM_006623.4(PHGDH):c.120G>T (p.Glu40Asp) rs745693493
NM_006623.4(PHGDH):c.1210-13C>T
NM_006623.4(PHGDH):c.1210-14C>A
NM_006623.4(PHGDH):c.1210-19C>T
NM_006623.4(PHGDH):c.1210-20A>G
NM_006623.4(PHGDH):c.1210-20A>T
NM_006623.4(PHGDH):c.1210-2A>G rs2101224430
NM_006623.4(PHGDH):c.1210-4A>G rs2101224413
NM_006623.4(PHGDH):c.1210-5C>T
NM_006623.4(PHGDH):c.1210-8C>A
NM_006623.4(PHGDH):c.1210-8C>T rs2101224399
NM_006623.4(PHGDH):c.1210-9T>A
NM_006623.4(PHGDH):c.1211T>A (p.Val404Asp)
NM_006623.4(PHGDH):c.1213A>T (p.Thr405Ser)
NM_006623.4(PHGDH):c.1222dup (p.His408fs) rs2101224520
NM_006623.4(PHGDH):c.1228_1232dup (p.Ala412fs) rs1215699403
NM_006623.4(PHGDH):c.1233T>C (p.Ala411=) rs2101224620
NM_006623.4(PHGDH):c.1235C>T (p.Ala412Val)
NM_006623.4(PHGDH):c.1236A>C (p.Ala412=) rs2101224630
NM_006623.4(PHGDH):c.1241G>A (p.Gly414Glu)
NM_006623.4(PHGDH):c.1242G>A (p.Gly414=) rs2101224665
NM_006623.4(PHGDH):c.1258del (p.Glu420fs)
NM_006623.4(PHGDH):c.1266C>T (p.Leu422=)
NM_006623.4(PHGDH):c.1278C>T (p.Ala426=) rs2101224812
NM_006623.4(PHGDH):c.127G>C (p.Ala43Pro)
NM_006623.4(PHGDH):c.1281G>A (p.Leu427=)
NM_006623.4(PHGDH):c.1282del (p.Ala428fs)
NM_006623.4(PHGDH):c.1284A>G (p.Ala428=) rs1244466093
NM_006623.4(PHGDH):c.1286G>T (p.Gly429Val) rs1652276195
NM_006623.4(PHGDH):c.1287C>T (p.Gly429=)
NM_006623.4(PHGDH):c.1289C>A (p.Ala430Asp)
NM_006623.4(PHGDH):c.1297C>T (p.Gln433Ter)
NM_006623.4(PHGDH):c.1299G>A (p.Gln433=) rs900277109
NM_006623.4(PHGDH):c.12A>T (p.Ala4=)
NM_006623.4(PHGDH):c.1307G>T (p.Gly436Val) rs1571020741
NM_006623.4(PHGDH):c.1308C>T (p.Gly436=) rs2101224967
NM_006623.4(PHGDH):c.1313T>C (p.Val438Ala) rs1652277316
NM_006623.4(PHGDH):c.1314C>T (p.Val438=)
NM_006623.4(PHGDH):c.1323T>C (p.Thr441=)
NM_006623.4(PHGDH):c.1326G>T (p.Thr442=) rs543703
NM_006623.4(PHGDH):c.1327C>G (p.Pro443Ala) rs1052377436
NM_006623.4(PHGDH):c.1329T>G (p.Pro443=)
NM_006623.4(PHGDH):c.1332A>C (p.Val444=)
NM_006623.4(PHGDH):c.1333C>T (p.Leu445=) rs2101225117
NM_006623.4(PHGDH):c.1338G>C (p.Gln446His)
NM_006623.4(PHGDH):c.1341G>T (p.Gly447=)
NM_006623.4(PHGDH):c.1344C>A (p.Leu448=) rs1390869782
NM_006623.4(PHGDH):c.1345A>G (p.Asn449Asp) rs2101225206
NM_006623.4(PHGDH):c.1348G>A (p.Gly450Arg)
NM_006623.4(PHGDH):c.1351_1352insTGC (p.Ala451delinsValPro)
NM_006623.4(PHGDH):c.1352C>G (p.Ala451Gly)
NM_006623.4(PHGDH):c.1358T>G (p.Phe453Cys) rs2101225315
NM_006623.4(PHGDH):c.1361G>A (p.Arg454Lys) rs2101225331
NM_006623.4(PHGDH):c.1362G>A (p.Arg454=)
NM_006623.4(PHGDH):c.1363C>T (p.Pro455Ser)
NM_006623.4(PHGDH):c.1378C>T (p.Arg460Cys) rs749406489
NM_006623.4(PHGDH):c.1379G>A (p.Arg460His) rs587696887
NM_006623.4(PHGDH):c.1379G>C (p.Arg460Pro) rs587696887
NM_006623.4(PHGDH):c.1379G>T (p.Arg460Leu) rs587696887
NM_006623.4(PHGDH):c.138+12G>A
NM_006623.4(PHGDH):c.138+19A>T
NM_006623.4(PHGDH):c.138+1G>T
NM_006623.4(PHGDH):c.138+2dup rs1650723432
NM_006623.4(PHGDH):c.138+6G>T
NM_006623.4(PHGDH):c.138+9A>C
NM_006623.4(PHGDH):c.1381A>C (p.Arg461=)
NM_006623.4(PHGDH):c.1383G>A (p.Arg461=) rs2101225455
NM_006623.4(PHGDH):c.1389G>A (p.Leu463=)
NM_006623.4(PHGDH):c.138G>A (p.Gln46=) rs143217390
NM_006623.4(PHGDH):c.138G>C (p.Gln46His) rs143217390
NM_006623.4(PHGDH):c.139-10del
NM_006623.4(PHGDH):c.139-10dup
NM_006623.4(PHGDH):c.139-11T>C
NM_006623.4(PHGDH):c.139-15T>C
NM_006623.4(PHGDH):c.139-16G>T
NM_006623.4(PHGDH):c.139-18A>T
NM_006623.4(PHGDH):c.139-2A>G
NM_006623.4(PHGDH):c.139-3C>T rs750037132
NM_006623.4(PHGDH):c.139-5T>C
NM_006623.4(PHGDH):c.139-6C>T
NM_006623.4(PHGDH):c.139-7G>A
NM_006623.4(PHGDH):c.139-7G>T rs1460987400
NM_006623.4(PHGDH):c.1393C>T (p.Leu465=)
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
NM_006623.4(PHGDH):c.1399C>T (p.Leu467=)
NM_006623.4(PHGDH):c.13A>G (p.Asn5Asp) rs745781701
NM_006623.4(PHGDH):c.1401A>C (p.Leu467=) rs768039058
NM_006623.4(PHGDH):c.1401A>T (p.Leu467=) rs768039058
NM_006623.4(PHGDH):c.1405C>T (p.Arg469Trp)
NM_006623.4(PHGDH):c.1413G>A (p.Gln471=)
NM_006623.4(PHGDH):c.1413G>T (p.Gln471His)
NM_006623.4(PHGDH):c.1416C>A (p.Thr472=)
NM_006623.4(PHGDH):c.1416C>T (p.Thr472=)
NM_006623.4(PHGDH):c.1422C>T (p.Asp474=) rs2101225739
NM_006623.4(PHGDH):c.1423C>T (p.Pro475Ser) rs757928289
NM_006623.4(PHGDH):c.1426G>A (p.Ala476Thr)
NM_006623.4(PHGDH):c.1428A>G (p.Ala476=) rs2101225800
NM_006623.4(PHGDH):c.1429dup (p.Met477fs)
NM_006623.4(PHGDH):c.142T>C (p.Cys48Arg) rs1296126379
NM_006623.4(PHGDH):c.1430T>C (p.Met477Thr)
NM_006623.4(PHGDH):c.1437_1440del (p.Pro479_Thr480insTer) rs2101225889
NM_006623.4(PHGDH):c.1438A>G (p.Thr480Ala)
NM_006623.4(PHGDH):c.143G>A (p.Cys48Tyr)
NM_006623.4(PHGDH):c.1440C>G (p.Thr480=)
NM_006623.4(PHGDH):c.1441A>G (p.Met481Val)
NM_006623.4(PHGDH):c.1442T>C (p.Met481Thr)
NM_006623.4(PHGDH):c.1447+10G>A rs1259366206
NM_006623.4(PHGDH):c.1447+18G>A rs1652288973
NM_006623.4(PHGDH):c.1447+9G>T rs200578872
NM_006623.4(PHGDH):c.1448-16T>C rs2101228802
NM_006623.4(PHGDH):c.1448-18A>G
NM_006623.4(PHGDH):c.1448-8A>G rs1652325929
NM_006623.4(PHGDH):c.1448-9T>C
NM_006623.4(PHGDH):c.1449C>A (p.Gly483=) rs1652326306
NM_006623.4(PHGDH):c.1457C>A (p.Ala486Glu)
NM_006623.4(PHGDH):c.1458A>G (p.Ala486=)
NM_006623.4(PHGDH):c.1467C>A (p.Gly489=)
NM_006623.4(PHGDH):c.1467C>G (p.Gly489=)
NM_006623.4(PHGDH):c.1472G>A (p.Arg491Gln) rs1452461315
NM_006623.4(PHGDH):c.1473G>T (p.Arg491=)
NM_006623.4(PHGDH):c.1485C>G (p.Tyr495Ter)
NM_006623.4(PHGDH):c.1491T>A (p.Thr497=) rs1557983680
NM_006623.4(PHGDH):c.1494A>C (p.Ser498=)
NM_006623.4(PHGDH):c.1497G>A (p.Leu499=)
NM_006623.4(PHGDH):c.1497G>T (p.Leu499=)
NM_006623.4(PHGDH):c.1499del (p.Val500fs)
NM_006623.4(PHGDH):c.1514C>T (p.Thr505Ile)
NM_006623.4(PHGDH):c.1518G>A (p.Trp506Ter)
NM_006623.4(PHGDH):c.1522G>A (p.Val508Ile)
NM_006623.4(PHGDH):c.1526T>C (p.Met509Thr)
NM_006623.4(PHGDH):c.1545G>T (p.Leu515=) rs1265382006
NM_006623.4(PHGDH):c.1548C>T (p.Pro516=) rs2101229419
NM_006623.4(PHGDH):c.1554G>A (p.Leu518=)
NM_006623.4(PHGDH):c.1558G>A (p.Ala520Thr)
NM_006623.4(PHGDH):c.1559C>T (p.Ala520Val)
NM_006623.4(PHGDH):c.1560G>T (p.Ala520=)
NM_006623.4(PHGDH):c.1565_1566del (p.Lys522fs)
NM_006623.4(PHGDH):c.1571A>G (p.His524Arg) rs2101229584
NM_006623.4(PHGDH):c.1572T>C (p.His524=)
NM_006623.4(PHGDH):c.1572_1575dup (p.Thr526fs)
NM_006623.4(PHGDH):c.1583C>A (p.Ala528Asp)
NM_006623.4(PHGDH):c.1583C>G (p.Ala528Gly)
NM_006623.4(PHGDH):c.1583C>T (p.Ala528Val) rs141408688
NM_006623.4(PHGDH):c.1587C>T (p.Phe529=)
NM_006623.4(PHGDH):c.1593C>T (p.Phe531=)
NM_006623.4(PHGDH):c.1599C>T (p.Phe533=) rs778576636
NM_006623.4(PHGDH):c.162C>G (p.Arg54=)
NM_006623.4(PHGDH):c.16C>T (p.Leu6=) rs1557961852
NM_006623.4(PHGDH):c.171del (p.Lys58fs) rs750368565
NM_006623.4(PHGDH):c.175G>T (p.Val59Leu) rs2101154786
NM_006623.4(PHGDH):c.176T>G (p.Val59Gly) rs1340275757
NM_006623.4(PHGDH):c.187G>A (p.Val63Ile) rs2101154843
NM_006623.4(PHGDH):c.196G>A (p.Ala66Thr)
NM_006623.4(PHGDH):c.1A>C (p.Met1Leu)
NM_006623.4(PHGDH):c.1A>G (p.Met1Val) rs1331155296
NM_006623.4(PHGDH):c.201T>C (p.Ala67=) rs1167677460
NM_006623.4(PHGDH):c.20G>C (p.Arg7Pro) rs1650717022
NM_006623.4(PHGDH):c.211C>T (p.Gln71Ter)
NM_006623.4(PHGDH):c.214G>A (p.Val72Met) rs958052810
NM_006623.4(PHGDH):c.216G>A (p.Val72=)
NM_006623.4(PHGDH):c.216G>C (p.Val72=) rs1651146348
NM_006623.4(PHGDH):c.218_219insTT (p.Gly74fs)
NM_006623.4(PHGDH):c.223A>C (p.Arg75=) rs1177622207
NM_006623.4(PHGDH):c.234A>C (p.Thr78=)
NM_006623.4(PHGDH):c.240G>T (p.Val80=) rs1232918316
NM_006623.4(PHGDH):c.242A>T (p.Asp81Val)
NM_006623.4(PHGDH):c.243C>T (p.Asp81=)
NM_006623.4(PHGDH):c.245A>G (p.Asn82Ser) rs587625944
NM_006623.4(PHGDH):c.246T>C (p.Asn82=) rs1651149194
NM_006623.4(PHGDH):c.249G>T (p.Val83=)
NM_006623.4(PHGDH):c.24A>T (p.Lys8Asn) rs2101136375
NM_006623.4(PHGDH):c.250G>T (p.Asp84Tyr)
NM_006623.4(PHGDH):c.264A>G (p.Ala88=)
NM_006623.4(PHGDH):c.266C>A (p.Thr89Lys) rs1651150753
NM_006623.4(PHGDH):c.267A>C (p.Thr89=) rs767488641
NM_006623.4(PHGDH):c.270G>A (p.Arg90=) rs2101155256
NM_006623.4(PHGDH):c.271_274del (p.Lys91fs) rs2101155246
NM_006623.4(PHGDH):c.275G>A (p.Gly92Asp)
NM_006623.4(PHGDH):c.279C>A (p.Ile93=)
NM_006623.4(PHGDH):c.280T>C (p.Leu94=)
NM_006623.4(PHGDH):c.281T>G (p.Leu94Trp) rs1651151523
NM_006623.4(PHGDH):c.282G>A (p.Leu94=) rs1477824093
NM_006623.4(PHGDH):c.285T>C (p.Val95=)
NM_006623.4(PHGDH):c.290+14G>C
NM_006623.4(PHGDH):c.290+16T>A
NM_006623.4(PHGDH):c.290+18C>A rs779206688
NM_006623.4(PHGDH):c.290+18_290+25del
NM_006623.4(PHGDH):c.290+19G>A rs746145056
NM_006623.4(PHGDH):c.290+19G>T rs746145056
NM_006623.4(PHGDH):c.290+2T>C rs886041874
NM_006623.4(PHGDH):c.290+3A>C rs2101155326
NM_006623.4(PHGDH):c.290+6T>C
NM_006623.4(PHGDH):c.290+8A>G
NM_006623.4(PHGDH):c.290+9T>A rs1651152863
NM_006623.4(PHGDH):c.291-13C>G
NM_006623.4(PHGDH):c.291-14T>C rs1651260693
NM_006623.4(PHGDH):c.291-1G>A rs2101160151
NM_006623.4(PHGDH):c.291-3del rs2101160136
NM_006623.4(PHGDH):c.291-6C>T
NM_006623.4(PHGDH):c.291-7T>A
NM_006623.4(PHGDH):c.294C>T (p.Thr98=)
NM_006623.4(PHGDH):c.299A>G (p.Asn100Ser)
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr) rs951372478
NM_006623.4(PHGDH):c.300T>C (p.Asn100=)
NM_006623.4(PHGDH):c.303G>C (p.Gly101=)
NM_006623.4(PHGDH):c.30C>T (p.Leu10=) rs2101136394
NM_006623.4(PHGDH):c.310C>T (p.Leu104Phe)
NM_006623.4(PHGDH):c.319G>A (p.Ala107Thr)
NM_006623.4(PHGDH):c.322G>C (p.Glu108Gln)
NM_006623.4(PHGDH):c.327C>T (p.Leu109=) rs1352957356
NM_006623.4(PHGDH):c.336A>C (p.Gly112=)
NM_006623.4(PHGDH):c.336A>G (p.Gly112=) rs1174976585
NM_006623.4(PHGDH):c.348C>A (p.Cys116Ter) rs2101160478
NM_006623.4(PHGDH):c.349C>T (p.Leu117=) rs2101160489
NM_006623.4(PHGDH):c.356+11G>C
NM_006623.4(PHGDH):c.356+13_356+14del
NM_006623.4(PHGDH):c.356+2T>G rs1651264976
NM_006623.4(PHGDH):c.356+3A>G
NM_006623.4(PHGDH):c.356+7C>A rs1570993643
NM_006623.4(PHGDH):c.357-15T>C
NM_006623.4(PHGDH):c.357-15T>G rs2101171045
NM_006623.4(PHGDH):c.357-16G>C
NM_006623.4(PHGDH):c.357-18C>T
NM_006623.4(PHGDH):c.357-19C>A
NM_006623.4(PHGDH):c.357-3C>A
NM_006623.4(PHGDH):c.357-4G>A rs2101171094
NM_006623.4(PHGDH):c.357-4G>T
NM_006623.4(PHGDH):c.357-6T>C rs2101171082
NM_006623.4(PHGDH):c.357-9T>C rs1173989487
NM_006623.4(PHGDH):c.357G>T (p.Arg119Ser)
NM_006623.4(PHGDH):c.358C>T (p.Gln120Ter)
NM_006623.4(PHGDH):c.35G>T (p.Ser12Ile)
NM_006623.4(PHGDH):c.363del (p.Gln123fs) rs781273456
NM_006623.4(PHGDH):c.364_365delinsTT (p.Pro122Phe) rs2101171167
NM_006623.4(PHGDH):c.366C>T (p.Pro122=)
NM_006623.4(PHGDH):c.371C>T (p.Ala124Val)
NM_006623.4(PHGDH):c.372G>T (p.Ala124=) rs146740411
NM_006623.4(PHGDH):c.377C>G (p.Ala126Gly)
NM_006623.4(PHGDH):c.380C>T (p.Ser127Leu)
NM_006623.4(PHGDH):c.381G>A (p.Ser127=) rs886045205
NM_006623.4(PHGDH):c.381G>C (p.Ser127=) rs886045205
NM_006623.4(PHGDH):c.381G>T (p.Ser127=)
NM_006623.4(PHGDH):c.385A>T (p.Lys129Ter)
NM_006623.4(PHGDH):c.391G>A (p.Gly131Ser)
NM_006623.4(PHGDH):c.395A>G (p.Lys132Arg)
NM_006623.4(PHGDH):c.396A>G (p.Lys132=)
NM_006623.4(PHGDH):c.398G>A (p.Trp133Ter)
NM_006623.4(PHGDH):c.399G>A (p.Trp133Ter)
NM_006623.4(PHGDH):c.399G>C (p.Trp133Cys) rs1651447610
NM_006623.4(PHGDH):c.403C>A (p.Arg135=)
NM_006623.4(PHGDH):c.403C>G (p.Arg135Gly)
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) rs267606949
NM_006623.4(PHGDH):c.408G>A (p.Lys136=)
NM_006623.4(PHGDH):c.40A>G (p.Ser14Gly) rs1448633854
NM_006623.4(PHGDH):c.411+11G>A
NM_006623.4(PHGDH):c.411+16G>T
NM_006623.4(PHGDH):c.411+18C>T rs1388415964
NM_006623.4(PHGDH):c.411+20C>T
NM_006623.4(PHGDH):c.411+2T>C rs1302054606
NM_006623.4(PHGDH):c.411+3G>A
NM_006623.4(PHGDH):c.411+5G>T rs775568707
NM_006623.4(PHGDH):c.411+9C>A rs187075075
NM_006623.4(PHGDH):c.412-16G>C
NM_006623.4(PHGDH):c.412-1G>A
NM_006623.4(PHGDH):c.412-1G>C rs1651455730
NM_006623.4(PHGDH):c.412-4G>A
NM_006623.4(PHGDH):c.412-8G>C
NM_006623.4(PHGDH):c.412-8G>T
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006623.4(PHGDH):c.423A>G (p.Thr141=)
NM_006623.4(PHGDH):c.426G>A (p.Glu142=)
NM_006623.4(PHGDH):c.427C>A (p.Leu143Met) rs143155925
NM_006623.4(PHGDH):c.427C>T (p.Leu143=) rs143155925
NM_006623.4(PHGDH):c.42C>T (p.Ser14=)
NM_006623.4(PHGDH):c.438G>A (p.Lys146=)
NM_006623.4(PHGDH):c.447A>T (p.Gly149=)
NM_006623.4(PHGDH):c.457C>T (p.Leu153=)
NM_006623.4(PHGDH):c.458T>C (p.Leu153Pro) rs1311224546
NM_006623.4(PHGDH):c.460G>A (p.Gly154Ser) rs1056647813
NM_006623.4(PHGDH):c.462C>A (p.Gly154=) rs752236796
NM_006623.4(PHGDH):c.462C>G (p.Gly154=) rs752236796
NM_006623.4(PHGDH):c.472A>G (p.Arg158Gly)
NM_006623.4(PHGDH):c.474A>G (p.Arg158=)
NM_006623.4(PHGDH):c.476A>G (p.Glu159Gly) rs756996899
NM_006623.4(PHGDH):c.476_477del (p.Glu159fs)
NM_006623.4(PHGDH):c.483dup (p.Thr162fs)
NM_006623.4(PHGDH):c.486C>G (p.Thr162=) rs1054405028
NM_006623.4(PHGDH):c.486C>T (p.Thr162=) rs1054405028
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_006623.4(PHGDH):c.498C>A (p.Ser166=)
NM_006623.4(PHGDH):c.498C>T (p.Ser166=)
NM_006623.4(PHGDH):c.500T>C (p.Phe167Ser)
NM_006623.4(PHGDH):c.504G>A (p.Gly168=) rs2101172535
NM_006623.4(PHGDH):c.505A>T (p.Met169Leu) rs776977023
NM_006623.4(PHGDH):c.507G>A (p.Met169Ile) rs1651465371
NM_006623.4(PHGDH):c.509del (p.Lys170fs)
NM_006623.4(PHGDH):c.510+10T>C
NM_006623.4(PHGDH):c.510+12C>T rs932348459
NM_006623.4(PHGDH):c.510+15G>T
NM_006623.4(PHGDH):c.510+18C>T
NM_006623.4(PHGDH):c.510+8G>A
NM_006623.4(PHGDH):c.511-10T>G
NM_006623.4(PHGDH):c.511-13T>G rs1571009081
NM_006623.4(PHGDH):c.511-14T>C
NM_006623.4(PHGDH):c.511-15C>T
NM_006623.4(PHGDH):c.511-16T>C
NM_006623.4(PHGDH):c.511-17C>A
NM_006623.4(PHGDH):c.511-17C>G
NM_006623.4(PHGDH):c.511-17C>T
NM_006623.4(PHGDH):c.511-19C>G
NM_006623.4(PHGDH):c.511-20T>C
NM_006623.4(PHGDH):c.511-2A>G rs2101195348
NM_006623.4(PHGDH):c.511-5A>G
NM_006623.4(PHGDH):c.511-5A>T
NM_006623.4(PHGDH):c.511-5del rs2101195325
NM_006623.4(PHGDH):c.511-9T>G
NM_006623.4(PHGDH):c.518G>A (p.Gly173Glu) rs2101195384
NM_006623.4(PHGDH):c.519G>A (p.Gly173=) rs754326499
NM_006623.4(PHGDH):c.528C>T (p.Pro176=) rs2101195431
NM_006623.4(PHGDH):c.537C>A (p.Ser179=)
NM_006623.4(PHGDH):c.543G>A (p.Glu181=) rs886045206
NM_006623.4(PHGDH):c.546C>T (p.Val182=)
NM_006623.4(PHGDH):c.552C>T (p.Ala184=) rs761331510
NM_006623.4(PHGDH):c.555C>A (p.Ser185=) rs1484089549
NM_006623.4(PHGDH):c.570G>A (p.Gln190=)
NM_006623.4(PHGDH):c.574C>T (p.Pro192Ser)
NM_006623.4(PHGDH):c.578del (p.Leu193fs)
NM_006623.4(PHGDH):c.579G>A (p.Leu193=) rs1651854823
NM_006623.4(PHGDH):c.588C>A (p.Ile196=)
NM_006623.4(PHGDH):c.606C>T (p.Phe202=)
NM_006623.4(PHGDH):c.612T>C (p.Thr204=) rs2101195879
NM_006623.4(PHGDH):c.619A>T (p.Thr207Ser)
NM_006623.4(PHGDH):c.627C>A (p.Leu209=) rs2101195942
NM_006623.4(PHGDH):c.627C>G (p.Leu209=) rs2101195942
NM_006623.4(PHGDH):c.627C>T (p.Leu209=) rs2101195942
NM_006623.4(PHGDH):c.628C>T (p.Leu210=)
NM_006623.4(PHGDH):c.62A>C (p.Lys21Thr) rs891735095
NM_006623.4(PHGDH):c.638C>T (p.Thr213Met)
NM_006623.4(PHGDH):c.643+13T>A
NM_006623.4(PHGDH):c.643+1G>A
NM_006623.4(PHGDH):c.643+20G>A
NM_006623.4(PHGDH):c.643+7G>T rs943894952
NM_006623.4(PHGDH):c.644-16C>T
NM_006623.4(PHGDH):c.644-17G>A
NM_006623.4(PHGDH):c.644-17G>C
NM_006623.4(PHGDH):c.644-18T>C
NM_006623.4(PHGDH):c.644-20G>A
NM_006623.4(PHGDH):c.644-6T>C
NM_006623.4(PHGDH):c.644-7C>A
NM_006623.4(PHGDH):c.644-9T>A
NM_006623.4(PHGDH):c.644-9T>G rs1388567211
NM_006623.4(PHGDH):c.658A>C (p.Asn220His) rs2101198018
NM_006623.4(PHGDH):c.659A>T (p.Asn220Ile)
NM_006623.4(PHGDH):c.661_662del (p.Thr221fs) rs1651881638
NM_006623.4(PHGDH):c.665_666dup (p.Ala223fs)
NM_006623.4(PHGDH):c.670C>T (p.Gln224Ter) rs2101198087
NM_006623.4(PHGDH):c.674G>A (p.Cys225Tyr) rs2101198107
NM_006623.4(PHGDH):c.675C>T (p.Cys225=)
NM_006623.4(PHGDH):c.678G>A (p.Lys226=) rs2101198131
NM_006623.4(PHGDH):c.682G>C (p.Gly228Arg) rs139063843
NM_006623.4(PHGDH):c.683G>A (p.Gly228Glu)
NM_006623.4(PHGDH):c.688C>A (p.Arg230Ser) rs1366611140
NM_006623.4(PHGDH):c.68T>A (p.Leu23Ter)
NM_006623.4(PHGDH):c.68T>G (p.Leu23Trp) rs587615037
NM_006623.4(PHGDH):c.694G>A (p.Val232Met) rs1359915168
NM_006623.4(PHGDH):c.695T>A (p.Val232Glu)
NM_006623.4(PHGDH):c.699C>T (p.Asn233=) rs2101198306
NM_006623.4(PHGDH):c.69G>C (p.Leu23Phe) rs2101136517
NM_006623.4(PHGDH):c.709G>T (p.Gly237Ter) rs1341545186
NM_006623.4(PHGDH):c.713G>T (p.Gly238Val) rs2101198427
NM_006623.4(PHGDH):c.714del (p.Ile239fs) rs730882181
NM_006623.4(PHGDH):c.717C>T (p.Ile239=) rs1324025863
NM_006623.4(PHGDH):c.720G>T (p.Val240=) rs773300796
NM_006623.4(PHGDH):c.721G>A (p.Asp241Asn)
NM_006623.4(PHGDH):c.729C>T (p.Gly243=)
NM_006623.4(PHGDH):c.72A>G (p.Gln24=)
NM_006623.4(PHGDH):c.730G>A (p.Ala244Thr)
NM_006623.4(PHGDH):c.735G>C (p.Leu245=)
NM_006623.4(PHGDH):c.738C>G (p.Leu246=) rs753236992
NM_006623.4(PHGDH):c.740G>A (p.Arg247Gln)
NM_006623.4(PHGDH):c.742G>A (p.Ala248Thr)
NM_006623.4(PHGDH):c.743C>A (p.Ala248Asp) rs201782441
NM_006623.4(PHGDH):c.747G>A (p.Leu249=)
NM_006623.4(PHGDH):c.753T>A (p.Ser251=)
NM_006623.4(PHGDH):c.753T>C (p.Ser251=) rs2101198705
NM_006623.4(PHGDH):c.764C>T (p.Ala255Val) rs1571010631
NM_006623.4(PHGDH):c.765del (p.Ala257fs)
NM_006623.4(PHGDH):c.766G>A (p.Gly256Arg)
NM_006623.4(PHGDH):c.771T>C (p.Ala257=)
NM_006623.4(PHGDH):c.775C>T (p.Leu259=) rs139830902
NM_006623.4(PHGDH):c.775del (p.Leu259fs)
NM_006623.4(PHGDH):c.77G>A (p.Gly26Glu) rs1650720374
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006623.4(PHGDH):c.789G>A (p.Thr263=)
NM_006623.4(PHGDH):c.789G>C (p.Thr263=) rs368452731
NM_006623.4(PHGDH):c.792+16C>T rs2101199027
NM_006623.4(PHGDH):c.792+17C>T
NM_006623.4(PHGDH):c.792+20A>G rs1651889944
NM_006623.4(PHGDH):c.792+6T>C rs146953046
NM_006623.4(PHGDH):c.792+7G>A rs774410126
NM_006623.4(PHGDH):c.793-11T>G rs770897520
NM_006623.4(PHGDH):c.793-12C>G
NM_006623.4(PHGDH):c.793-14C>T
NM_006623.4(PHGDH):c.793-15T>C
NM_006623.4(PHGDH):c.793-18G>C
NM_006623.4(PHGDH):c.793-20A>C
NM_006623.4(PHGDH):c.793-5G>T
NM_006623.4(PHGDH):c.793-7T>C rs2101204358
NM_006623.4(PHGDH):c.793G>A (p.Glu265Lys) rs587777774
NM_006623.4(PHGDH):c.795G>A (p.Glu265=)
NM_006623.4(PHGDH):c.79G>C (p.Gly27Arg) rs755568069
NM_006623.4(PHGDH):c.803G>A (p.Arg268Gln)
NM_006623.4(PHGDH):c.808C>T (p.Arg270Trp) rs765756881
NM_006623.4(PHGDH):c.819G>A (p.Val273=)
NM_006623.4(PHGDH):c.824A>G (p.His275Arg)
NM_006623.4(PHGDH):c.828G>A (p.Glu276=) rs1478978406
NM_006623.4(PHGDH):c.834C>T (p.Val278=)
NM_006623.4(PHGDH):c.846C>T (p.Pro282=)
NM_006623.4(PHGDH):c.84G>A (p.Leu28=)
NM_006623.4(PHGDH):c.851T>C (p.Leu284Pro)
NM_006623.4(PHGDH):c.852G>C (p.Leu284=) rs1297161098
NM_006623.4(PHGDH):c.852G>T (p.Leu284=) rs1297161098
NM_006623.4(PHGDH):c.854G>A (p.Gly285Asp)
NM_006623.4(PHGDH):c.856G>C (p.Ala286Pro) rs587777775
NM_006623.4(PHGDH):c.859del (p.Ser287fs)
NM_006623.4(PHGDH):c.868G>A (p.Glu290Lys) rs2101204959
NM_006623.4(PHGDH):c.86A>G (p.Gln29Arg) rs1650720815
NM_006623.4(PHGDH):c.870G>A (p.Glu290=) rs1355536303
NM_006623.4(PHGDH):c.874C>T (p.Gln292Ter) rs749134845
NM_006623.4(PHGDH):c.87G>T (p.Gln29His)
NM_006623.4(PHGDH):c.881G>T (p.Arg294Leu)
NM_006623.4(PHGDH):c.889G>T (p.Glu297Ter) rs1489498331
NM_006623.4(PHGDH):c.889del (p.Glu297fs)
NM_006623.4(PHGDH):c.891G>A (p.Glu297=)
NM_006623.4(PHGDH):c.894A>C (p.Glu298Asp)
NM_006623.4(PHGDH):c.900T>C (p.Ala300=)
NM_006623.4(PHGDH):c.901del (p.Val301fs) rs1571013274
NM_006623.4(PHGDH):c.907T>C (p.Phe303Leu)
NM_006623.4(PHGDH):c.919del (p.Met306_Val307insTer) rs2101205361
NM_006623.4(PHGDH):c.930A>G (p.Lys310=) rs1651981974
NM_006623.4(PHGDH):c.938C>T (p.Thr313Met)
NM_006623.4(PHGDH):c.939G>A (p.Thr313=)
NM_006623.4(PHGDH):c.939G>C (p.Thr313=)
NM_006623.4(PHGDH):c.93G>A (p.Val31=)
NM_006623.4(PHGDH):c.940G>A (p.Gly314Arg)
NM_006623.4(PHGDH):c.945+14C>T
NM_006623.4(PHGDH):c.945+15C>G
NM_006623.4(PHGDH):c.945+17G>A
NM_006623.4(PHGDH):c.945+1G>A rs758517215
NM_006623.4(PHGDH):c.945+1G>T rs758517215
NM_006623.4(PHGDH):c.945+20G>A rs374620703
NM_006623.4(PHGDH):c.945+9_945+10insCTGGC rs777871013
NM_006623.4(PHGDH):c.946-11A>T
NM_006623.4(PHGDH):c.946-16C>G
NM_006623.4(PHGDH):c.946-19G>A rs745359903
NM_006623.4(PHGDH):c.946-2A>G rs1217925678
NM_006623.4(PHGDH):c.946-7T>C
NM_006623.4(PHGDH):c.946G>C (p.Val316Leu) rs146398308
NM_006623.4(PHGDH):c.94_110del (p.Glu32fs)
NM_006623.4(PHGDH):c.953C>T (p.Ala318Val) rs1030988421
NM_006623.4(PHGDH):c.958_968del (p.Ala320fs) rs1398758559
NM_006623.4(PHGDH):c.960C>G (p.Ala320=) rs2101215979
NM_006623.4(PHGDH):c.960C>T (p.Ala320=) rs2101215979
NM_006623.4(PHGDH):c.971C>T (p.Ala324Val)
NM_006623.4(PHGDH):c.972C>G (p.Ala324=)
NM_006623.4(PHGDH):c.972C>T (p.Ala324=) rs2101216070
NM_006623.4(PHGDH):c.975C>T (p.Phe325=)
NM_006623.4(PHGDH):c.981A>T (p.Pro327=)
NM_006623.4(PHGDH):c.984C>T (p.His328=)
NM_006623.4(PHGDH):c.990G>A (p.Lys330=) rs2101216214
NM_006623.4(PHGDH):c.991C>A (p.Pro331Thr)
NM_006623.4(PHGDH):c.991C>T (p.Pro331Ser) rs370562656
NM_006623.4(PHGDH):c.992del (p.Pro331fs)
NM_006623.4(PHGDH):c.996G>A (p.Trp332Ter) rs2101216259
NM_006623.4(PHGDH):c.99G>A (p.Lys33=) rs2101136591

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