NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)
|
rs121434373
|
0.00026
|
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.1198G>A (p.Val400Met)
|
rs121434372
|
0.00014
|
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)
|
rs147611168
|
0.00014
|
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)
|
rs121434371
|
0.00011
|
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)
|
rs150938052
|
0.00007
|
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)
|
rs372983141
|
0.00006
|
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.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.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.743C>T (p.Pro248Leu)
|
rs1057516344
|
0.00003
|
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)
|
rs766518430
|
0.00003
|
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.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.1015A>G (p.Met339Val)
|
rs752234195
|
0.00001
|
NM_000159.4(GCDH):c.1045G>A (p.Ala349Thr)
|
rs1257292639
|
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.1123T>C (p.Cys375Arg)
|
rs1348974766
|
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.1199dup (p.Ile401fs)
|
rs1970722328
|
0.00001
|
NM_000159.4(GCDH):c.1213dup (p.Met405fs)
|
rs1377352983
|
0.00001
|
NM_000159.4(GCDH):c.300G>A (p.Met100Ile)
|
rs759838598
|
0.00001
|
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)
|
rs886043840
|
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.463T>C (p.Tyr155His)
|
rs1482995062
|
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.532G>A (p.Gly178Arg)
|
rs749452002
|
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.764C>T (p.Ser255Leu)
|
rs758503371
|
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.832C>T (p.Pro278Ser)
|
rs751742575
|
0.00001
|
NM_000159.4(GCDH):c.857C>T (p.Pro286Leu)
|
rs1254396827
|
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.914C>T (p.Ser305Leu)
|
rs1260580183
|
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)_(13008687_?)del
|
|
|
NM_000159.4(GCDH):c.1000A>T (p.Lys334Ter)
|
|
|
NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile)
|
rs869025299
|
|
NM_000159.4(GCDH):c.1054C>T (p.Gln352Ter)
|
rs1555751089
|
|
NM_000159.4(GCDH):c.1060G>T (p.Gly354Cys)
|
|
|
NM_000159.4(GCDH):c.1064_1065insATTG (p.Lys357fs)
|
rs1568428779
|
|
NM_000159.4(GCDH):c.1075C>T (p.Gln359Ter)
|
|
|
NM_000159.4(GCDH):c.1082+2T>C
|
rs2145954110
|
|
NM_000159.4(GCDH):c.1103C>A (p.Ser368Tyr)
|
rs1970718775
|
|
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.1116del (p.Asn373fs)
|
rs2145954876
|
|
NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr)
|
rs1568429153
|
|
NM_000159.4(GCDH):c.1125_1126del (p.Cys375fs)
|
|
|
NM_000159.4(GCDH):c.1133C>T (p.Ala378Val)
|
rs1970719648
|
|
NM_000159.4(GCDH):c.1138del (p.Asp380fs)
|
|
|
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.1168G>A (p.Gly390Arg)
|
rs372983141
|
|
NM_000159.4(GCDH):c.1168G>T (p.Gly390Trp)
|
|
|
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.1182T>G (p.Ile394Met)
|
rs1599618968
|
|
NM_000159.4(GCDH):c.1193A>G (p.Tyr398Cys)
|
|
|
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.1208A>G (p.His403Arg)
|
|
|
NM_000159.4(GCDH):c.1208_1243+718del
|
|
|
NM_000159.4(GCDH):c.1211C>G (p.Ala404Gly)
|
rs1432619357
|
|
NM_000159.4(GCDH):c.1228G>A (p.Val410Met)
|
rs760155287
|
|
NM_000159.4(GCDH):c.1238A>G (p.Tyr413Cys)
|
|
|
NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter)
|
rs776082304
|
|
NM_000159.4(GCDH):c.1240G>T (p.Glu414Ter)
|
rs147611168
|
|
NM_000159.4(GCDH):c.1243+1G>T
|
rs1970723970
|
|
NM_000159.4(GCDH):c.251del (p.Leu84fs)
|
|
|
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>T (p.Arg88Cys)
|
rs142967670
|
|
NM_000159.4(GCDH):c.263G>A (p.Arg88His)
|
rs1970568682
|
|
NM_000159.4(GCDH):c.271+1G>A
|
rs786204639
|
|
NM_000159.4(GCDH):c.275T>G (p.Phe92Cys)
|
rs2145940591
|
|
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.296A>G (p.Glu99Gly)
|
rs1294124984
|
|
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg)
|
rs1273164833
|
|
NM_000159.4(GCDH):c.304del (p.Glu102fs)
|
|
|
NM_000159.4(GCDH):c.329_332del (p.Ile110fs)
|
rs1555749434
|
|
NM_000159.4(GCDH):c.334G>T (p.Gly112Ter)
|
rs758137643
|
|
NM_000159.4(GCDH):c.337T>C (p.Tyr113His)
|
rs1555749853
|
|
NM_000159.4(GCDH):c.345_349del (p.Cys115fs)
|
|
|
NM_000159.4(GCDH):c.349G>A (p.Gly117Arg)
|
|
|
NM_000159.4(GCDH):c.367T>C (p.Tyr123His)
|
|
|
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.397G>A (p.Val133Met)
|
rs746388510
|
|
NM_000159.4(GCDH):c.397G>T (p.Val133Leu)
|
rs746388510
|
|
NM_000159.4(GCDH):c.406G>T (p.Gly136Cys)
|
rs1970604182
|
|
NM_000159.4(GCDH):c.411C>G (p.Tyr137Ter)
|
|
|
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)
|
rs139851890
|
|
NM_000159.4(GCDH):c.428_957-39del
|
|
|
NM_000159.4(GCDH):c.431A>C (p.Gln144Pro)
|
rs878853154
|
|
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)
|
|
|
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.464A>G (p.Tyr155Cys)
|
|
|
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.505+1G>A
|
rs968628450
|
|
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.533G>A (p.Gly178Glu)
|
rs786204627
|
|
NM_000159.4(GCDH):c.535C>G (p.Leu179Val)
|
rs201714645
|
|
NM_000159.4(GCDH):c.541G>C (p.Glu181Gln)
|
rs745852738
|
|
NM_000159.4(GCDH):c.542A>G (p.Glu181Gly)
|
rs398123194
|
|
NM_000159.4(GCDH):c.542_543del (p.Glu181fs)
|
rs2145950197
|
|
NM_000159.4(GCDH):c.554G>A (p.Gly185Glu)
|
|
|
NM_000159.4(GCDH):c.561C>A (p.Asp187Glu)
|
|
|
NM_000159.4(GCDH):c.583G>A (p.Ala195Thr)
|
rs2145950460
|
|
NM_000159.4(GCDH):c.636-4_639del
|
rs775103982
|
|
NM_000159.4(GCDH):c.636G>A (p.Trp212Ter)
|
|
|
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala)
|
rs1468636851
|
|
NM_000159.4(GCDH):c.655G>A (p.Ala219Thr)
|
rs1970675055
|
|
NM_000159.4(GCDH):c.658G>T (p.Asp220Tyr)
|
|
|
NM_000159.4(GCDH):c.661_662del (p.Leu221fs)
|
rs2145950918
|
|
NM_000159.4(GCDH):c.671T>G (p.Val224Gly)
|
rs1970675584
|
|
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)
|
rs786205862
|
|
NM_000159.4(GCDH):c.683G>T (p.Cys228Phe)
|
rs1970675873
|
|
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)
|
rs964724051
|
|
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.731del (p.Gly244fs)
|
rs878853244
|
|
NM_000159.4(GCDH):c.736_737del (p.Ser246fs)
|
rs751287220
|
|
NM_000159.4(GCDH):c.747del (p.Ile250fs)
|
|
|
NM_000159.4(GCDH):c.751C>T (p.Gln251Ter)
|
rs1008834111
|
|
NM_000159.4(GCDH):c.763T>C (p.Ser255Pro)
|
|
|
NM_000159.4(GCDH):c.764C>A (p.Ser255Ter)
|
|
|
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.795_796insCTATGATCATC (p.Met266delinsLeuTer)
|
rs869025300
|
|
NM_000159.4(GCDH):c.797T>C (p.Met266Thr)
|
rs771650894
|
|
NM_000159.4(GCDH):c.803G>T (p.Gly268Val)
|
rs765723076
|
|
NM_000159.4(GCDH):c.831_834dup (p.Gly279fs)
|
|
|
NM_000159.4(GCDH):c.833C>G (p.Pro278Arg)
|
|
|
NM_000159.4(GCDH):c.848T>C (p.Leu283Pro)
|
rs1970682343
|
|
NM_000159.4(GCDH):c.852+1del
|
|
|
NM_000159.4(GCDH):c.853-2A>G
|
rs1057517410
|
|
NM_000159.4(GCDH):c.860dup (p.Gly288fs)
|
rs1970693382
|
|
NM_000159.4(GCDH):c.878C>T (p.Ala293Val)
|
|
|
NM_000159.4(GCDH):c.881G>C (p.Arg294Pro)
|
rs775606471
|
|
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.896G>A (p.Trp299Ter)
|
rs1599616676
|
|
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
|
|
|
NM_000159.4(GCDH):c.905T>C (p.Leu302Pro)
|
rs2145952877
|
|
NM_000159.4(GCDH):c.920dup (p.Cys308fs)
|
|
|
NM_000159.4(GCDH):c.932dup (p.Ala312fs)
|
rs1970695925
|
|
NM_000159.4(GCDH):c.940C>T (p.Gln314Ter)
|
rs1970696255
|
|
NM_000159.4(GCDH):c.957-1G>C
|
|
|
NM_000159.4(GCDH):c.961C>T (p.Gln321Ter)
|
|
|
NM_000159.4(GCDH):c.998A>G (p.Gln333Arg)
|
rs2145953853
|
|