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
|
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NM_000159.4(GCDH):c.956+14G>A
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NM_000159.4(GCDH):c.956+17G>A
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rs765218612
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NM_000159.4(GCDH):c.956+18T>C
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NM_000159.4(GCDH):c.957-16G>A
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NM_000159.4(GCDH):c.957-1G>C
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NM_000159.4(GCDH):c.957-1G>T
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NM_000159.4(GCDH):c.957-20C>A
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NM_000159.4(GCDH):c.957-20C>T
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NM_000159.4(GCDH):c.957-6A>C
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rs748270195
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NM_000159.4(GCDH):c.957-6A>T
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rs748270195
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NM_000159.4(GCDH):c.957-7C>T
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rs2145953733
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NM_000159.4(GCDH):c.957G>A (p.Arg319=)
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NM_000159.4(GCDH):c.961C>T (p.Gln321Ter)
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NM_000159.4(GCDH):c.966T>C (p.Phe322=)
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rs1436984668
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NM_000159.4(GCDH):c.972C>A (p.Val324=)
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NM_000159.4(GCDH):c.981_982delinsTT (p.Arg328Trp)
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NM_000159.4(GCDH):c.988C>T (p.Gln330Ter)
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rs1970707032
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NM_000159.4(GCDH):c.993G>A (p.Leu331=)
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rs1477463597
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NM_000159.4(GCDH):c.993G>C (p.Leu331=)
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rs1477463597
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NM_000159.4(GCDH):c.997C>G (p.Gln333Glu)
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rs794726972
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NM_000159.4(GCDH):c.998A>G (p.Gln333Arg)
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rs2145953853
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NM_000159.4(GCDH):c.999G>A (p.Gln333=)
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rs878853156
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