ClinVar Miner

List of variants in gene GCDH studied for Glutaric aciduria, type 1

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Total variants: 623
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.852+223C>T rs11085825 0.30906
NM_000159.4(GCDH):c.1173G>T (p.Gly391=) rs1060218 0.30844
NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp) rs114759170 0.00453
NM_000159.4(GCDH):c.642G>A (p.Thr214=) rs142806397 0.00170
NM_000159.4(GCDH):c.271+3G>A rs75430014 0.00167
NM_000159.4(GCDH):c.1197C>T (p.His399=) rs139344943 0.00131
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521 0.00128
NM_000159.4(GCDH):c.636-38G>A rs138216703 0.00108
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460 0.00093
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905 0.00081
NM_000159.4(GCDH):c.636-18C>T rs183109666 0.00038
NM_000159.4(GCDH):c.531C>T (p.Phe177=) rs144013229 0.00037
NM_000159.4(GCDH):c.1044C>T (p.His348=) rs140134376 0.00032
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro) rs121434373 0.00026
NM_000159.4(GCDH):c.417G>A (p.Ser139=) rs201583578 0.00024
NM_000159.4(GCDH):c.738G>A (p.Ser246=) rs188548539 0.00023
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354 0.00018
NM_000159.4(GCDH):c.952G>A (p.Asp318Asn) rs761135089 0.00017
NM_000159.4(GCDH):c.627C>T (p.Thr209=) rs143172809 0.00016
NM_000159.4(GCDH):c.735C>T (p.Leu245=) rs372678445 0.00015
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys) rs147611168 0.00014
NM_000159.4(GCDH):c.894G>A (p.Ala298=) rs150834108 0.00012
NM_000159.4(GCDH):c.552C>T (p.Ser184=) rs144887422 0.00011
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_000159.4(GCDH):c.886G>A (p.Gly296Ser) rs539505767 0.00009
NM_000159.4(GCDH):c.801C>T (p.Asp267=) rs141293881 0.00008
NM_000159.4(GCDH):c.915G>A (p.Ser305=) rs375120734 0.00008
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr) rs370059118 0.00008
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052 0.00007
NM_000159.4(GCDH):c.829C>T (p.Leu277Phe) rs371654188 0.00007
NM_000159.4(GCDH):c.861C>T (p.Phe287=) rs200757991 0.00007
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141 0.00006
NM_000159.4(GCDH):c.506-8G>T rs376016112 0.00006
NM_000159.4(GCDH):c.636-24C>G rs762538155 0.00006
NM_000159.4(GCDH):c.885C>T (p.Tyr295=) rs139192015 0.00006
NM_000159.4(GCDH):c.1092C>T (p.Pro364=) rs146363703 0.00005
NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr) rs201509112 0.00005
NM_000159.4(GCDH):c.335-14C>T rs781650833 0.00005
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln) rs775606471 0.00005
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694 0.00004
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370 0.00004
NM_000159.4(GCDH):c.1188C>T (p.Asp396=) rs779968566 0.00004
NM_000159.4(GCDH):c.268G>A (p.Glu90Lys) rs1025558859 0.00004
NM_000159.4(GCDH):c.285G>A (p.Glu95=) rs772071645 0.00004
NM_000159.4(GCDH):c.428T>C (p.Val143Ala) rs141456457 0.00004
NM_000159.4(GCDH):c.679C>T (p.Arg227Trp) rs368357056 0.00004
NM_000159.4(GCDH):c.848del (p.Leu283fs) rs761491320 0.00004
NM_000159.4(GCDH):c.945C>T (p.Tyr315=) rs138133019 0.00004
NM_000159.4(GCDH):c.976C>T (p.Leu326=) rs907822395 0.00004
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His) rs764608975 0.00003
NM_000159.4(GCDH):c.344G>A (p.Cys115Tyr) rs776758971 0.00003
NM_000159.4(GCDH):c.396G>T (p.Arg132=) rs1160521098 0.00003
NM_000159.4(GCDH):c.636-26C>T rs772762469 0.00003
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu) rs1057516344 0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000159.4(GCDH):c.876C>T (p.Asn292=) rs1438245420 0.00003
NM_000159.4(GCDH):c.891C>T (p.Ile297=) rs143102910 0.00003
NM_000159.4(GCDH):c.893C>T (p.Ala298Val) rs764993096 0.00003
NM_000159.4(GCDH):c.1059C>T (p.Leu353=) rs758606844 0.00002
NM_000159.4(GCDH):c.1083-10C>T rs756372984 0.00002
NM_000159.4(GCDH):c.1122C>T (p.Asn374=) rs771733977 0.00002
NM_000159.4(GCDH):c.1149C>T (p.Arg383=) rs1458766426 0.00002
NM_000159.4(GCDH):c.1209C>T (p.His403=) rs747746632 0.00002
NM_000159.4(GCDH):c.1227C>T (p.Ala409=) rs368251933 0.00002
NM_000159.4(GCDH):c.357G>A (p.Ser119=) rs150674535 0.00002
NM_000159.4(GCDH):c.394C>T (p.Arg132Trp) rs372429120 0.00002
NM_000159.4(GCDH):c.420G>T (p.Ala140=) rs1408565185 0.00002
NM_000159.4(GCDH):c.441C>T (p.Leu147=) rs931207617 0.00002
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg) rs774526353 0.00002
NM_000159.4(GCDH):c.553G>A (p.Gly185Arg) rs576948027 0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030 0.00002
NM_000159.4(GCDH):c.658G>A (p.Asp220Asn) rs375357230 0.00002
NM_000159.4(GCDH):c.727C>T (p.Arg243Trp) rs549254182 0.00002
NM_000159.4(GCDH):c.774C>G (p.Ala258=) rs1305712372 0.00002
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr) rs761765983 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln) rs746220312 0.00002
NM_000159.4(GCDH):c.1014C>T (p.Asp338=) rs1400225199 0.00001
NM_000159.4(GCDH):c.1015A>G (p.Met339Val) rs752234195 0.00001
NM_000159.4(GCDH):c.1045G>A (p.Ala349Thr) rs1257292639 0.00001
NM_000159.4(GCDH):c.1051C>T (p.Leu351=) rs1306667649 0.00001
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser) rs768925619 0.00001
NM_000159.4(GCDH):c.1064G>A (p.Arg355His) rs748275416 0.00001
NM_000159.4(GCDH):c.1077G>A (p.Gln359=) rs947840778 0.00001
NM_000159.4(GCDH):c.1082+8C>T rs199627852 0.00001
NM_000159.4(GCDH):c.1088C>T (p.Ala363Val) rs1278213620 0.00001
NM_000159.4(GCDH):c.1108C>T (p.Leu370=) rs747792184 0.00001
NM_000159.4(GCDH):c.1114A>C (p.Arg372=) rs771924230 0.00001
NM_000159.4(GCDH):c.1123T>C (p.Cys375Arg) rs1348974766 0.00001
NM_000159.4(GCDH):c.1131A>G (p.Lys377=) rs139241235 0.00001
NM_000159.4(GCDH):c.1140C>T (p.Asp380=) rs760363668 0.00001
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter) rs752127949 0.00001
NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala) rs778153326 0.00001
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys) rs1555751336 0.00001
NM_000159.4(GCDH):c.1199dup (p.Ile401fs) rs1970722328 0.00001
NM_000159.4(GCDH):c.1213dup (p.Met405fs) rs1377352983 0.00001
NM_000159.4(GCDH):c.1236C>T (p.Thr412=) rs767895203 0.00001
NM_000159.4(GCDH):c.1239C>T (p.Tyr413=) rs776082304 0.00001
NM_000159.4(GCDH):c.242C>G (p.Pro81Arg) rs780408127 0.00001
NM_000159.4(GCDH):c.278A>T (p.His93Leu) rs398123192 0.00001
NM_000159.4(GCDH):c.294G>A (p.Ser98=) rs774554314 0.00001
NM_000159.4(GCDH):c.300G>A (p.Met100Ile) rs759838598 0.00001
NM_000159.4(GCDH):c.325A>G (p.Thr109Ala) rs1419527696 0.00001
NM_000159.4(GCDH):c.334+15C>T rs200188623 0.00001
NM_000159.4(GCDH):c.334+7A>G rs1970575048 0.00001
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) rs886043840 0.00001
NM_000159.4(GCDH):c.365C>T (p.Ala122Val) rs766325846 0.00001
NM_000159.4(GCDH):c.366C>G (p.Ala122=) rs751364711 0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048 0.00001
NM_000159.4(GCDH):c.382C>T (p.Arg128Ter) rs752334462 0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631 0.00001
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) rs200639270 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000159.4(GCDH):c.419C>T (p.Ala140Val) rs762052524 0.00001
NM_000159.4(GCDH):c.435C>T (p.Ser145=) rs1239198957 0.00001
NM_000159.4(GCDH):c.460G>A (p.Ala154Thr) rs759415410 0.00001
NM_000159.4(GCDH):c.463T>C (p.Tyr155His) rs1482995062 0.00001
NM_000159.4(GCDH):c.466G>A (p.Gly156Ser) rs767351827 0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg) rs1176799813 0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) rs777201305 0.00001
NM_000159.4(GCDH):c.489G>A (p.Lys163=) rs1198939173 0.00001
NM_000159.4(GCDH):c.505+13C>G rs780526140 0.00001
NM_000159.4(GCDH):c.505+20G>T rs1057522095 0.00001
NM_000159.4(GCDH):c.506-10G>A rs753347860 0.00001
NM_000159.4(GCDH):c.506-4G>A rs1367182882 0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) rs749452002 0.00001
NM_000159.4(GCDH):c.612C>T (p.Tyr204=) rs777957599 0.00001
NM_000159.4(GCDH):c.635+20G>A rs1351975861 0.00001
NM_000159.4(GCDH):c.636-1G>A rs398123195 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000159.4(GCDH):c.657C>T (p.Ala219=) rs757621195 0.00001
NM_000159.4(GCDH):c.709C>T (p.Leu237=) rs1237461659 0.00001
NM_000159.4(GCDH):c.711G>A (p.Leu237=) rs1970676956 0.00001
NM_000159.4(GCDH):c.722G>A (p.Gly241Glu) rs769520999 0.00001
NM_000159.4(GCDH):c.737C>T (p.Ser246Leu) rs754312389 0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371 0.00001
NM_000159.4(GCDH):c.768G>A (p.Leu256=) rs1970679799 0.00001
NM_000159.4(GCDH):c.770G>A (p.Arg257Gln) rs751583656 0.00001
NM_000159.4(GCDH):c.796A>G (p.Met266Val) rs745357523 0.00001
NM_000159.4(GCDH):c.826G>T (p.Val276Leu) rs763300541 0.00001
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser) rs751742575 0.00001
NM_000159.4(GCDH):c.833C>T (p.Pro278Leu) rs755054282 0.00001
NM_000159.4(GCDH):c.837T>C (p.Gly279=) rs767543724 0.00001
NM_000159.4(GCDH):c.849G>C (p.Leu283=) rs777665473 0.00001
NM_000159.4(GCDH):c.852+5G>A rs886054243 0.00001
NM_000159.4(GCDH):c.857C>T (p.Pro286Leu) rs1254396827 0.00001
NM_000159.4(GCDH):c.862G>A (p.Gly288Ser) rs774157793 0.00001
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys) rs1328059662 0.00001
NM_000159.4(GCDH):c.880C>T (p.Arg294Trp) rs1864390545 0.00001
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr) rs373203481 0.00001
NM_000159.4(GCDH):c.912T>C (p.Ala304=) rs780703352 0.00001
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu) rs1260580183 0.00001
NM_000159.4(GCDH):c.948C>T (p.Ala316=) rs772743499 0.00001
NM_000159.4(GCDH):c.951C>T (p.Leu317=) rs886450662 0.00001
NM_000159.4(GCDH):c.957-8C>T rs776644984 0.00001
NM_000159.4(GCDH):c.972C>T (p.Val324=) rs149646305 0.00001
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter) rs794726972 0.00001
NC_000019.9:g.(?_13001426)_(13004353_?)del
NC_000019.9:g.(?_13001933)_(13003258_?)del
NC_000019.9:g.(?_13001933)_(13004477_?)del
NC_000019.9:g.(?_13004287)_(13004477_?)del
NC_000019.9:g.(?_13004287)_(13008687_?)del
NM_000159.4(GCDH):c.1000A>T (p.Lys334Ter)
NM_000159.4(GCDH):c.1002G>A (p.Lys334=)
NM_000159.4(GCDH):c.1002G>C (p.Lys334Asn)
NM_000159.4(GCDH):c.1006C>T (p.Leu336=)
NM_000159.4(GCDH):c.1008G>A (p.Leu336=)
NM_000159.4(GCDH):c.1011A>C (p.Ala337=)
NM_000159.4(GCDH):c.1018C>T (p.Leu340Phe) rs1599617735
NM_000159.4(GCDH):c.1020C>T (p.Leu340=)
NM_000159.4(GCDH):c.1021A>T (p.Thr341Ser)
NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile) rs869025299
NM_000159.4(GCDH):c.1033C>G (p.Leu345Val) rs1970708854
NM_000159.4(GCDH):c.1038C>A (p.Gly346=) rs1970709021
NM_000159.4(GCDH):c.1038C>T (p.Gly346=) rs1970709021
NM_000159.4(GCDH):c.1047C>T (p.Ala349=)
NM_000159.4(GCDH):c.1048T>C (p.Cys350Arg)
NM_000159.4(GCDH):c.1054C>T (p.Gln352Ter) rs1555751089
NM_000159.4(GCDH):c.1056G>A (p.Gln352=)
NM_000159.4(GCDH):c.1060G>T (p.Gly354Cys)
NM_000159.4(GCDH):c.1060_1065del (p.Gly354_Arg355del)
NM_000159.4(GCDH):c.1064_1065insATTG (p.Lys357fs) rs1568428779
NM_000159.4(GCDH):c.1065C>A (p.Arg355=) rs112816231
NM_000159.4(GCDH):c.1065delinsATTGA (p.Lys357fs)
NM_000159.4(GCDH):c.1067T>A (p.Leu356Ter) rs1970710230
NM_000159.4(GCDH):c.1068G>A (p.Leu356=)
NM_000159.4(GCDH):c.1075C>T (p.Gln359Ter)
NM_000159.4(GCDH):c.1080C>T (p.Asp360=) rs1970710700
NM_000159.4(GCDH):c.1082+10G>A rs2145954156
NM_000159.4(GCDH):c.1082+12G>A
NM_000159.4(GCDH):c.1082+14G>T
NM_000159.4(GCDH):c.1082+1G>A
NM_000159.4(GCDH):c.1082+1G>T rs1555751109
NM_000159.4(GCDH):c.1082+20G>C
NM_000159.4(GCDH):c.1082+2T>C rs2145954110
NM_000159.4(GCDH):c.1082+7G>A rs1970710999
NM_000159.4(GCDH):c.1083-11G>A
NM_000159.4(GCDH):c.1083-14T>C
NM_000159.4(GCDH):c.1083-18C>G
NM_000159.4(GCDH):c.1083-19C>T
NM_000159.4(GCDH):c.1083-2A>C rs2145954766
NM_000159.4(GCDH):c.1083-7C>T
NM_000159.4(GCDH):c.1083-8A>T rs2145954753
NM_000159.4(GCDH):c.1083-9C>T rs778065536
NM_000159.4(GCDH):c.1085C>T (p.Ala362Val)
NM_000159.4(GCDH):c.1093G>T (p.Glu365Ter)
NM_000159.4(GCDH):c.1097T>C (p.Met366Thr)
NM_000159.4(GCDH):c.1098G>A (p.Met366Ile) rs1599618698
NM_000159.4(GCDH):c.1103C>A (p.Ser368Tyr) rs1970718775
NM_000159.4(GCDH):c.1107G>A (p.Leu369=) rs2145954839
NM_000159.4(GCDH):c.1113G>A (p.Lys371=) rs2145954850
NM_000159.4(GCDH):c.1114A>G (p.Arg372Gly) rs771924230
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys) rs1555751240
NM_000159.4(GCDH):c.1116G>C (p.Arg372Ser)
NM_000159.4(GCDH):c.1116del (p.Asn373fs) rs2145954876
NM_000159.4(GCDH):c.1118A>G (p.Asn373Ser) rs1568429137
NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr) rs1568429153
NM_000159.4(GCDH):c.1125_1126del (p.Cys375fs)
NM_000159.4(GCDH):c.1128G>A (p.Gly376=)
NM_000159.4(GCDH):c.1131A>C (p.Lys377Asn) rs139241235
NM_000159.4(GCDH):c.1132G>A (p.Ala378Thr) rs1442597198
NM_000159.4(GCDH):c.1133C>T (p.Ala378Val) rs1970719648
NM_000159.4(GCDH):c.1134C>T (p.Ala378=) rs2145954932
NM_000159.4(GCDH):c.1135C>T (p.Leu379=)
NM_000159.4(GCDH):c.1137G>A (p.Leu379=) rs1970719706
NM_000159.4(GCDH):c.1138del (p.Asp380fs)
NM_000159.4(GCDH):c.1141A>G (p.Ile381Val)
NM_000159.4(GCDH):c.1142T>C (p.Ile381Thr) rs772654647
NM_000159.4(GCDH):c.1144_1145del (p.Ala382fs)
NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly) rs752127949
NM_000159.4(GCDH):c.1157G>A (p.Arg386Gln) rs398123190
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro) rs398123190
NM_000159.4(GCDH):c.1159G>A (p.Asp387Asn) rs1970720537
NM_000159.4(GCDH):c.1165C>T (p.Leu389=)
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000159.4(GCDH):c.1167G>C (p.Leu389=)
NM_000159.4(GCDH):c.1167G>T (p.Leu389=)
NM_000159.4(GCDH):c.1167_1168insT (p.Gly390fs) rs1568429257
NM_000159.4(GCDH):c.1168G>A (p.Gly390Arg) rs372983141
NM_000159.4(GCDH):c.1168G>T (p.Gly390Trp)
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val) rs778153326
NM_000159.4(GCDH):c.1173del (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1173dup (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1175A>G (p.Asn392Ser) rs2145955095
NM_000159.4(GCDH):c.1176T>G (p.Asn392Lys) rs2145955099
NM_000159.4(GCDH):c.1179G>A (p.Gly393=)
NM_000159.4(GCDH):c.1182T>G (p.Ile394Met) rs1599618968
NM_000159.4(GCDH):c.1186G>A (p.Asp396Asn)
NM_000159.4(GCDH):c.1193A>G (p.Tyr398Cys)
NM_000159.4(GCDH):c.1194T>C (p.Tyr398=)
NM_000159.4(GCDH):c.1199T>C (p.Val400Ala) rs2145955176
NM_000159.4(GCDH):c.1200G>T (p.Val400=)
NM_000159.4(GCDH):c.1203C>T (p.Ile401=)
NM_000159.4(GCDH):c.1204C>G (p.Arg402Gly)
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000159.4(GCDH):c.1207C>T (p.His403Tyr) rs1599619080
NM_000159.4(GCDH):c.1208_1243+718del
NM_000159.4(GCDH):c.1209C>G (p.His403Gln) rs747746632
NM_000159.4(GCDH):c.1211C>G (p.Ala404Gly) rs1432619357
NM_000159.4(GCDH):c.1212C>T (p.Ala404=)
NM_000159.4(GCDH):c.1214T>C (p.Met405Thr)
NM_000159.4(GCDH):c.1218C>T (p.Asn406=)
NM_000159.4(GCDH):c.1219C>G (p.Leu407Val)
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro) rs1555751379
NM_000159.4(GCDH):c.1222G>A (p.Glu408Lys) rs1599619180
NM_000159.4(GCDH):c.1227C>A (p.Ala409=)
NM_000159.4(GCDH):c.1228G>A (p.Val410Met) rs760155287
NM_000159.4(GCDH):c.1233del (p.Asn411fs) rs2145955299
NM_000159.4(GCDH):c.1236C>A (p.Thr412=)
NM_000159.4(GCDH):c.1236del (p.Tyr413fs)
NM_000159.4(GCDH):c.1238A>G (p.Tyr413Cys)
NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter) rs776082304
NM_000159.4(GCDH):c.1239C>G (p.Tyr413Ter) rs776082304
NM_000159.4(GCDH):c.1240G>T (p.Glu414Ter) rs147611168
NM_000159.4(GCDH):c.1243+11G>A rs1356042526
NM_000159.4(GCDH):c.1243+13C>T
NM_000159.4(GCDH):c.1243+17A>G
NM_000159.4(GCDH):c.1243+19A>G
NM_000159.4(GCDH):c.1243+1G>C
NM_000159.4(GCDH):c.1243+1G>T rs1970723970
NM_000159.4(GCDH):c.1243+20G>A
NM_000159.4(GCDH):c.1243+9T>G
NM_000159.4(GCDH):c.240G>C (p.Met80Ile) rs1970567585
NM_000159.4(GCDH):c.244C>T (p.Arg82Cys)
NM_000159.4(GCDH):c.245G>C (p.Arg82Pro) rs1568424857
NM_000159.4(GCDH):c.246C>A (p.Arg82=) rs1466044796
NM_000159.4(GCDH):c.249C>T (p.Ile83=) rs1013749296
NM_000159.4(GCDH):c.250C>T (p.Leu84=) rs2145940216
NM_000159.4(GCDH):c.251del (p.Leu84fs)
NM_000159.4(GCDH):c.252G>A (p.Leu84=)
NM_000159.4(GCDH):c.257C>G (p.Ala86Gly)
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser) rs142967670
NM_000159.4(GCDH):c.262C>G (p.Arg88Gly) rs142967670
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys) rs142967670
NM_000159.4(GCDH):c.263G>A (p.Arg88His) rs1970568682
NM_000159.4(GCDH):c.271+11T>G
NM_000159.4(GCDH):c.271+16G>T
NM_000159.4(GCDH):c.271+17G>A
NM_000159.4(GCDH):c.271+19G>A
NM_000159.4(GCDH):c.271+1G>A rs786204639
NM_000159.4(GCDH):c.271+8G>A rs2145940277
NM_000159.4(GCDH):c.272-12G>A
NM_000159.4(GCDH):c.272-13G>T
NM_000159.4(GCDH):c.272-15C>T
NM_000159.4(GCDH):c.272-17C>T
NM_000159.4(GCDH):c.272-20G>C
NM_000159.4(GCDH):c.272-20G>T
NM_000159.4(GCDH):c.272-2A>C rs1555749369
NM_000159.4(GCDH):c.272-2A>G
NM_000159.4(GCDH):c.272-9C>T
NM_000159.4(GCDH):c.275T>G (p.Phe92Cys) rs2145940591
NM_000159.4(GCDH):c.276T>C (p.Phe92=)
NM_000159.4(GCDH):c.278A>G (p.His93Arg) rs398123192
NM_000159.4(GCDH):c.279T>C (p.His93=)
NM_000159.4(GCDH):c.280C>T (p.Arg94Trp) rs771602677
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu) rs566417795
NM_000159.4(GCDH):c.283G>C (p.Glu95Gln)
NM_000159.4(GCDH):c.288C>T (p.Ile96=) rs868023396
NM_000159.4(GCDH):c.291T>C (p.Ile97=) rs766788256
NM_000159.4(GCDH):c.296A>G (p.Glu99Gly) rs1294124984
NM_000159.4(GCDH):c.297G>A (p.Glu99=) rs2145940675
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg) rs1273164833
NM_000159.4(GCDH):c.304G>C (p.Glu102Gln)
NM_000159.4(GCDH):c.304G>T (p.Glu102Ter) rs976647697
NM_000159.4(GCDH):c.304del (p.Glu102fs)
NM_000159.4(GCDH):c.311G>C (p.Gly104Ala)
NM_000159.4(GCDH):c.316C>T (p.Leu106=)
NM_000159.4(GCDH):c.327C>G (p.Thr109=) rs2145940768
NM_000159.4(GCDH):c.329_332del (p.Ile110fs) rs1555749434
NM_000159.4(GCDH):c.330C>A (p.Ile110=) rs745618765
NM_000159.4(GCDH):c.330C>T (p.Ile110=) rs745618765
NM_000159.4(GCDH):c.334+12T>C
NM_000159.4(GCDH):c.334+14T>C
NM_000159.4(GCDH):c.334+17C>G
NM_000159.4(GCDH):c.334+1G>A
NM_000159.4(GCDH):c.334+20C>T
NM_000159.4(GCDH):c.334+8C>A
NM_000159.4(GCDH):c.334+8C>T
NM_000159.4(GCDH):c.334G>T (p.Gly112Ter) rs758137643
NM_000159.4(GCDH):c.335-10C>T
NM_000159.4(GCDH):c.335-13C>T
NM_000159.4(GCDH):c.335-18C>T
NM_000159.4(GCDH):c.335-5A>C
NM_000159.4(GCDH):c.335-6del
NM_000159.4(GCDH):c.335-7C>T rs1276560235
NM_000159.4(GCDH):c.337T>C (p.Tyr113His) rs1555749853
NM_000159.4(GCDH):c.338A>G (p.Tyr113Cys) rs1970602621
NM_000159.4(GCDH):c.339T>A (p.Tyr113Ter)
NM_000159.4(GCDH):c.339T>C (p.Tyr113=)
NM_000159.4(GCDH):c.339T>G (p.Tyr113Ter) rs768836114
NM_000159.4(GCDH):c.342C>T (p.Gly114=) rs933742715
NM_000159.4(GCDH):c.345_349del (p.Cys115fs)
NM_000159.4(GCDH):c.348T>G (p.Ala116=)
NM_000159.4(GCDH):c.349G>A (p.Gly117Arg)
NM_000159.4(GCDH):c.351G>A (p.Gly117=) rs765292190
NM_000159.4(GCDH):c.363G>A (p.Val121=)
NM_000159.4(GCDH):c.366C>T (p.Ala122=) rs751364711
NM_000159.4(GCDH):c.367T>C (p.Tyr123His)
NM_000159.4(GCDH):c.372G>A (p.Gly124=)
NM_000159.4(GCDH):c.372G>C (p.Gly124=)
NM_000159.4(GCDH):c.375C>T (p.Leu125=) rs1262773034
NM_000159.4(GCDH):c.378G>C (p.Leu126=) rs1599610282
NM_000159.4(GCDH):c.380_391del (p.Ala127_Leu130del) rs1555749893
NM_000159.4(GCDH):c.381C>G (p.Ala127=)
NM_000159.4(GCDH):c.381C>T (p.Ala127=)
NM_000159.4(GCDH):c.383G>T (p.Arg128Leu) rs755586631
NM_000159.4(GCDH):c.384A>G (p.Arg128=) rs2145944138
NM_000159.4(GCDH):c.386A>C (p.Glu129Ala) rs1568425945
NM_000159.4(GCDH):c.389T>C (p.Leu130Pro) rs1254101861
NM_000159.4(GCDH):c.394C>G (p.Arg132Gly) rs372429120
NM_000159.4(GCDH):c.395G>C (p.Arg132Pro)
NM_000159.4(GCDH):c.396G>A (p.Arg132=)
NM_000159.4(GCDH):c.397G>A (p.Val133Met) rs746388510
NM_000159.4(GCDH):c.397G>T (p.Val133Leu) rs746388510
NM_000159.4(GCDH):c.397dup (p.Val133fs)
NM_000159.4(GCDH):c.398T>G (p.Val133Gly) rs772549903
NM_000159.4(GCDH):c.401A>T (p.Asp134Val) rs1970604130
NM_000159.4(GCDH):c.402C>T (p.Asp134=) rs2145944193
NM_000159.4(GCDH):c.406G>T (p.Gly136Cys) rs1970604182
NM_000159.4(GCDH):c.408C>T (p.Gly136=)
NM_000159.4(GCDH):c.411C>G (p.Tyr137Ter)
NM_000159.4(GCDH):c.413G>A (p.Arg138Lys) rs747370741
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp) rs139851890
NM_000159.4(GCDH):c.417G>T (p.Ser139=)
NM_000159.4(GCDH):c.420G>A (p.Ala140=) rs1408565185
NM_000159.4(GCDH):c.424A>C (p.Ser142Arg) rs2145944277
NM_000159.4(GCDH):c.427G>A (p.Val143Ile) rs1555749918
NM_000159.4(GCDH):c.428_957-39del
NM_000159.4(GCDH):c.429C>G (p.Val143=)
NM_000159.4(GCDH):c.429C>T (p.Val143=)
NM_000159.4(GCDH):c.431A>C (p.Gln144Pro) rs878853154
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr) rs1555749927
NM_000159.4(GCDH):c.438C>T (p.Ser146=) rs1970606310
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)
NM_000159.4(GCDH):c.444C>T (p.Val148=)
NM_000159.4(GCDH):c.445A>G (p.Met149Val)
NM_000159.4(GCDH):c.446T>C (p.Met149Thr) rs2145944429
NM_000159.4(GCDH):c.456C>G (p.Ile152Met) rs878853153
NM_000159.4(GCDH):c.459T>C (p.Tyr153=)
NM_000159.4(GCDH):c.464A>G (p.Tyr155Cys)
NM_000159.4(GCDH):c.465T>C (p.Tyr155=) rs2145944531
NM_000159.4(GCDH):c.467G>T (p.Gly156Val) rs1034155331
NM_000159.4(GCDH):c.478C>T (p.Gln160Ter) rs1970608600
NM_000159.4(GCDH):c.479_481del (p.Gln160del)
NM_000159.4(GCDH):c.481C>T (p.Arg161Trp) rs1173575355
NM_000159.4(GCDH):c.483G>A (p.Arg161=)
NM_000159.4(GCDH):c.486G>A (p.Gln162=) rs2145944634
NM_000159.4(GCDH):c.495G>A (p.Leu165=) rs1475804794
NM_000159.4(GCDH):c.495G>T (p.Leu165=) rs1475804794
NM_000159.4(GCDH):c.505+11G>T
NM_000159.4(GCDH):c.505+12C>T
NM_000159.4(GCDH):c.505+12_505+71del rs2145944782
NM_000159.4(GCDH):c.505+14C>T
NM_000159.4(GCDH):c.505+15A>G
NM_000159.4(GCDH):c.505+19G>A
NM_000159.4(GCDH):c.505+1G>A rs968628450
NM_000159.4(GCDH):c.505+1_505+8del rs1057516855
NM_000159.4(GCDH):c.505+7G>A rs2145944779
NM_000159.4(GCDH):c.506-13C>A
NM_000159.4(GCDH):c.506-13C>G
NM_000159.4(GCDH):c.506-13C>T
NM_000159.4(GCDH):c.506-14T>C
NM_000159.4(GCDH):c.506-16T>C
NM_000159.4(GCDH):c.506-18T>A
NM_000159.4(GCDH):c.506-19C>T
NM_000159.4(GCDH):c.506-7C>T
NM_000159.4(GCDH):c.506-8G>A rs376016112
NM_000159.4(GCDH):c.510G>A (p.Lys170=) rs200785120
NM_000159.4(GCDH):c.510G>T (p.Lys170Asn)
NM_000159.4(GCDH):c.511G>C (p.Gly171Arg) rs2145950047
NM_000159.4(GCDH):c.511G>T (p.Gly171Trp) rs2145950047
NM_000159.4(GCDH):c.514G>T (p.Glu172Ter) rs1057516715
NM_000159.4(GCDH):c.524del (p.Gly175fs)
NM_000159.4(GCDH):c.525C>G (p.Gly175=)
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp) rs756345321
NM_000159.4(GCDH):c.528C>T (p.Cys176=) rs756345321
NM_000159.4(GCDH):c.533G>A (p.Gly178Glu) rs786204627
NM_000159.4(GCDH):c.535C>G (p.Leu179Val) rs201714645
NM_000159.4(GCDH):c.535C>T (p.Leu179Phe)
NM_000159.4(GCDH):c.539C>T (p.Thr180Ile)
NM_000159.4(GCDH):c.540A>G (p.Thr180=) rs2145950187
NM_000159.4(GCDH):c.541G>A (p.Glu181Lys) rs745852738
NM_000159.4(GCDH):c.541G>C (p.Glu181Gln) rs745852738
NM_000159.4(GCDH):c.542_543del (p.Glu181fs) rs2145950197
NM_000159.4(GCDH):c.543G>A (p.Glu181=)
NM_000159.4(GCDH):c.548A>G (p.Asn183Ser)
NM_000159.4(GCDH):c.550A>G (p.Ser184Gly) rs1555750471
NM_000159.4(GCDH):c.552del (p.Ser184fs)
NM_000159.4(GCDH):c.553_570del (p.Gly185_Ser190del) rs1599614265
NM_000159.4(GCDH):c.554G>A (p.Gly185Glu)
NM_000159.4(GCDH):c.555A>C (p.Gly185=)
NM_000159.4(GCDH):c.559G>A (p.Asp187Asn)
NM_000159.4(GCDH):c.561C>A (p.Asp187Glu)
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr) rs764774411
NM_000159.4(GCDH):c.570C>T (p.Ser190=)
NM_000159.4(GCDH):c.572T>G (p.Met191Arg)
NM_000159.4(GCDH):c.576_577delinsAC (p.Thr193Pro)
NM_000159.4(GCDH):c.579C>T (p.Thr193=) rs1338648863
NM_000159.4(GCDH):c.583G>A (p.Ala195Thr) rs2145950460
NM_000159.4(GCDH):c.591C>T (p.Tyr197=) rs755546081
NM_000159.4(GCDH):c.596C>T (p.Ser199Leu) rs1970669938
NM_000159.4(GCDH):c.597A>G (p.Ser199=)
NM_000159.4(GCDH):c.609C>T (p.Ser203=)
NM_000159.4(GCDH):c.614C>A (p.Thr205Asn)
NM_000159.4(GCDH):c.624G>A (p.Gly208=)
NM_000159.4(GCDH):c.627C>A (p.Thr209=) rs143172809
NM_000159.4(GCDH):c.633C>A (p.Thr211=) rs2145950612
NM_000159.4(GCDH):c.635+10C>A rs1599614516
NM_000159.4(GCDH):c.635+12G>A
NM_000159.4(GCDH):c.635+19G>A
NM_000159.4(GCDH):c.635+7G>A rs2145950631
NM_000159.4(GCDH):c.635G>A (p.Trp212Ter) rs1970671544
NM_000159.4(GCDH):c.636-16A>G
NM_000159.4(GCDH):c.636-17G>A
NM_000159.4(GCDH):c.636-17G>C
NM_000159.4(GCDH):c.636-2dup rs762345287
NM_000159.4(GCDH):c.636-3_639del rs1555750535
NM_000159.4(GCDH):c.636-4C>T
NM_000159.4(GCDH):c.636-4_639del rs775103982
NM_000159.4(GCDH):c.636-6C>A
NM_000159.4(GCDH):c.636-7T>A
NM_000159.4(GCDH):c.636-7T>C
NM_000159.4(GCDH):c.636-9del rs771335099
NM_000159.4(GCDH):c.636G>A (p.Trp212Ter)
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala) rs1468636851
NM_000159.4(GCDH):c.643A>G (p.Asn215Asp) rs1970674860
NM_000159.4(GCDH):c.646_649dup (p.Pro217fs) rs1555750542
NM_000159.4(GCDH):c.648G>A (p.Ser216=) rs2145950883
NM_000159.4(GCDH):c.650C>T (p.Pro217Leu)
NM_000159.4(GCDH):c.655G>A (p.Ala219Thr) rs1970675055
NM_000159.4(GCDH):c.658G>T (p.Asp220Tyr)
NM_000159.4(GCDH):c.659A>T (p.Asp220Val)
NM_000159.4(GCDH):c.661_662del (p.Leu221fs) rs2145950918
NM_000159.4(GCDH):c.665_668del (p.Leu221_Phe222insTer) rs1057516899
NM_000159.4(GCDH):c.671T>G (p.Val224Gly) rs1970675584
NM_000159.4(GCDH):c.674G>C (p.Trp225Ser) rs1568427678
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000159.4(GCDH):c.679C>G (p.Arg227Gly)
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln) rs121434373
NM_000159.4(GCDH):c.680G>T (p.Arg227Leu) rs121434373
NM_000159.4(GCDH):c.681G>A (p.Arg227=)
NM_000159.4(GCDH):c.681G>C (p.Arg227=)
NM_000159.4(GCDH):c.683G>T (p.Cys228Phe) rs1970675873
NM_000159.4(GCDH):c.688G>A (p.Asp230Asn) rs575325364
NM_000159.4(GCDH):c.691G>A (p.Gly231Ser) rs1970676051
NM_000159.4(GCDH):c.693C>G (p.Gly231=) rs1970676135
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) rs964724051
NM_000159.4(GCDH):c.701G>A (p.Arg234Gln) rs1203022386
NM_000159.4(GCDH):c.701G>C (p.Arg234Pro) rs1203022386
NM_000159.4(GCDH):c.706T>C (p.Phe236Leu) rs747920711
NM_000159.4(GCDH):c.713T>C (p.Leu238Pro)
NM_000159.4(GCDH):c.714G>A (p.Leu238=)
NM_000159.4(GCDH):c.715G>A (p.Glu239Lys) rs1970677215
NM_000159.4(GCDH):c.727_730dup (p.Gly244fs) rs1555750580
NM_000159.4(GCDH):c.728G>A (p.Arg243Gln)
NM_000159.4(GCDH):c.729G>C (p.Arg243=) rs2145951167
NM_000159.4(GCDH):c.730G>A (p.Gly244Ser) rs1555750589
NM_000159.4(GCDH):c.731del (p.Gly244fs) rs878853244
NM_000159.4(GCDH):c.732T>C (p.Gly244=) rs1599614979
NM_000159.4(GCDH):c.735C>A (p.Leu245=) rs372678445
NM_000159.4(GCDH):c.736_737del (p.Ser246fs) rs751287220
NM_000159.4(GCDH):c.741C>T (p.Ala247=) rs2145951229
NM_000159.4(GCDH):c.747del (p.Ile250fs)
NM_000159.4(GCDH):c.748A>T (p.Ile250Phe) rs1599615059
NM_000159.4(GCDH):c.751C>T (p.Gln251Ter) rs1008834111
NM_000159.4(GCDH):c.759G>A (p.Lys253=) rs886054242
NM_000159.4(GCDH):c.763T>C (p.Ser255Pro)
NM_000159.4(GCDH):c.764C>A (p.Ser255Ter)
NM_000159.4(GCDH):c.764C>G (p.Ser255Trp)
NM_000159.4(GCDH):c.765G>A (p.Ser255=) rs1193455540
NM_000159.4(GCDH):c.765G>T (p.Ser255=)
NM_000159.4(GCDH):c.775T>C (p.Ser259Pro) rs2145951375
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu) rs367699815
NM_000159.4(GCDH):c.782C>T (p.Thr261Ile) rs777494547
NM_000159.4(GCDH):c.786C>A (p.Gly262=) rs1599615180
NM_000159.4(GCDH):c.787A>G (p.Met263Val)
NM_000159.4(GCDH):c.788T>C (p.Met263Thr)
NM_000159.4(GCDH):c.795_796insCTATGATCATC (p.Met266delinsLeuTer) rs869025300
NM_000159.4(GCDH):c.797T>C (p.Met266Thr) rs771650894
NM_000159.4(GCDH):c.798G>A (p.Met266Ile) rs1555750632
NM_000159.4(GCDH):c.803G>T (p.Gly268Val) rs765723076
NM_000159.4(GCDH):c.810G>A (p.Glu270=) rs2145951500
NM_000159.4(GCDH):c.813G>T (p.Val271=) rs2145951510
NM_000159.4(GCDH):c.831C>T (p.Leu277=) rs1355435798
NM_000159.4(GCDH):c.831_834dup (p.Gly279fs)
NM_000159.4(GCDH):c.833C>G (p.Pro278Arg)
NM_000159.4(GCDH):c.834T>C (p.Pro278=) rs2145951607
NM_000159.4(GCDH):c.840A>C (p.Ala280=) rs2145951627
NM_000159.4(GCDH):c.848T>C (p.Leu283Pro) rs1970682343
NM_000159.4(GCDH):c.851G>C (p.Gly284Ala)
NM_000159.4(GCDH):c.852+15C>G
NM_000159.4(GCDH):c.852+18T>A
NM_000159.4(GCDH):c.852+1G>A rs1367214521
NM_000159.4(GCDH):c.852+1del
NM_000159.4(GCDH):c.853-11C>T
NM_000159.4(GCDH):c.853-15A>C
NM_000159.4(GCDH):c.853-18G>A
NM_000159.4(GCDH):c.853-19C>T
NM_000159.4(GCDH):c.853-1G>A
NM_000159.4(GCDH):c.853-20G>T
NM_000159.4(GCDH):c.853-2A>G rs1057517410
NM_000159.4(GCDH):c.853-4A>G
NM_000159.4(GCDH):c.856C>T (p.Pro286Ser) rs786205861
NM_000159.4(GCDH):c.858C>T (p.Pro286=)
NM_000159.4(GCDH):c.860T>C (p.Phe287Ser)
NM_000159.4(GCDH):c.860dup (p.Gly288fs) rs1970693382
NM_000159.4(GCDH):c.864C>T (p.Gly288=)
NM_000159.4(GCDH):c.870G>A (p.Leu290=) rs2145952706
NM_000159.4(GCDH):c.870_871del (p.Asn291fs)
NM_000159.4(GCDH):c.873C>T (p.Asn291=)
NM_000159.4(GCDH):c.873del (p.Asn291fs) rs1057517407
NM_000159.4(GCDH):c.878C>T (p.Ala293Val)
NM_000159.4(GCDH):c.879C>G (p.Ala293=)
NM_000159.4(GCDH):c.879C>T (p.Ala293=)
NM_000159.4(GCDH):c.881G>C (p.Arg294Pro) rs775606471
NM_000159.4(GCDH):c.881G>T (p.Arg294Leu) rs775606471
NM_000159.4(GCDH):c.882G>A (p.Arg294=) rs2145952773
NM_000159.4(GCDH):c.883T>C (p.Tyr295His) rs121434366
NM_000159.4(GCDH):c.885C>A (p.Tyr295Ter) rs139192015
NM_000159.4(GCDH):c.894G>C (p.Ala298=) rs150834108
NM_000159.4(GCDH):c.896G>A (p.Trp299Ter) rs1599616676
NM_000159.4(GCDH):c.900C>T (p.Gly300=)
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
NM_000159.4(GCDH):c.903G>A (p.Val301=) rs2145952871
NM_000159.4(GCDH):c.905T>C (p.Leu302Pro) rs2145952877
NM_000159.4(GCDH):c.907G>T (p.Gly303Ter) rs1970694961
NM_000159.4(GCDH):c.920dup (p.Cys308fs)
NM_000159.4(GCDH):c.926T>G (p.Leu309Trp)
NM_000159.4(GCDH):c.930C>T (p.His310=) rs2145952978
NM_000159.4(GCDH):c.932C>G (p.Thr311Arg) rs1970695857
NM_000159.4(GCDH):c.932dup (p.Ala312fs) rs1970695925
NM_000159.4(GCDH):c.940C>T (p.Gln314Ter) rs1970696255
NM_000159.4(GCDH):c.942G>A (p.Gln314=) rs2145953021
NM_000159.4(GCDH):c.949C>T (p.Leu317Phe) rs1970696752
NM_000159.4(GCDH):c.956+11G>A
NM_000159.4(GCDH):c.956+14G>A
NM_000159.4(GCDH):c.956+17G>A rs765218612
NM_000159.4(GCDH):c.956+18T>C
NM_000159.4(GCDH):c.957-16G>A
NM_000159.4(GCDH):c.957-1G>C
NM_000159.4(GCDH):c.957-1G>T
NM_000159.4(GCDH):c.957-20C>A
NM_000159.4(GCDH):c.957-20C>T
NM_000159.4(GCDH):c.957-6A>C rs748270195
NM_000159.4(GCDH):c.957-6A>T rs748270195
NM_000159.4(GCDH):c.957-7C>T rs2145953733
NM_000159.4(GCDH):c.957G>A (p.Arg319=)
NM_000159.4(GCDH):c.961C>T (p.Gln321Ter)
NM_000159.4(GCDH):c.966T>C (p.Phe322=) rs1436984668
NM_000159.4(GCDH):c.972C>A (p.Val324=)
NM_000159.4(GCDH):c.981_982delinsTT (p.Arg328Trp)
NM_000159.4(GCDH):c.988C>T (p.Gln330Ter) rs1970707032
NM_000159.4(GCDH):c.993G>A (p.Leu331=) rs1477463597
NM_000159.4(GCDH):c.993G>C (p.Leu331=) rs1477463597
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) rs794726972
NM_000159.4(GCDH):c.998A>G (p.Gln333Arg) rs2145953853
NM_000159.4(GCDH):c.999G>A (p.Gln333=) rs878853156

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