NM_000026.4(ADSL):c.895A>G (p.Met299Val)
|
rs34396910
|
0.00090
|
NM_000026.4(ADSL):c.403-4G>A
|
rs373652667
|
0.00064
|
NC_000022.11:g.40345568C>A
|
rs1358901512
|
0.00053
|
NM_000026.4(ADSL):c.363G>A (p.Leu121=)
|
rs138203195
|
0.00036
|
NC_000022.11:g.40345598C>G
|
rs941360483
|
0.00020
|
NM_000026.4(ADSL):c.1115G>A (p.Arg372His)
|
rs150228971
|
0.00019
|
NM_000026.4(ADSL):c.357+7G>A
|
rs199993991
|
0.00019
|
NM_000026.4(ADSL):c.*45A>T
|
rs180726920
|
0.00017
|
NM_000026.4(ADSL):c.16G>C (p.Asp6His)
|
rs140064577
|
0.00016
|
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)
|
rs780425464
|
0.00015
|
NM_000026.4(ADSL):c.357+6C>T
|
rs181628906
|
0.00015
|
NC_000022.11:g.40345958C>T
|
rs558615182
|
0.00014
|
NC_000022.11:g.40345513A>C
|
rs988634184
|
0.00013
|
NC_000022.11:g.40345530C>T
|
rs753742645
|
0.00012
|
NM_000026.4(ADSL):c.-37C>G
|
rs372357778
|
0.00012
|
NC_000022.11:g.40345587A>G
|
rs9607708
|
0.00011
|
NC_000022.11:g.40346371G>C
|
rs777987980
|
0.00011
|
NC_000022.11:g.40346412G>C
|
rs973872264
|
0.00011
|
NC_000022.11:g.40346141T>A
|
rs1261528478
|
0.00009
|
NC_000022.11:g.40346143T>C
|
rs978591450
|
0.00009
|
NC_000022.11:g.40346381A>C
|
rs771316335
|
0.00009
|
NC_000022.11:g.40346247A>G
|
rs1283422769
|
0.00008
|
NC_000022.11:g.40345639T>C
|
rs528540026
|
0.00006
|
NC_000022.11:g.40345994G>C
|
rs1032678851
|
0.00006
|
NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn)
|
rs772974251
|
0.00006
|
NM_000026.4(ADSL):c.32A>T (p.Asp11Val)
|
rs368501116
|
0.00006
|
NM_000026.4(ADSL):c.792+6T>C
|
rs768892416
|
0.00006
|
NM_000026.4(ADSL):c.856C>G (p.Gln286Glu)
|
rs376912453
|
0.00006
|
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys)
|
rs376357524
|
0.00006
|
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala)
|
rs75953451
|
0.00005
|
NM_000026.4(ADSL):c.1200T>C (p.His400=)
|
rs751401941
|
0.00005
|
NC_000022.11:g.40345595G>T
|
rs905746040
|
0.00004
|
NC_000022.11:g.40345634T>C
|
rs897270801
|
0.00004
|
NC_000022.11:g.40345661C>T
|
rs891295346
|
0.00004
|
NC_000022.11:g.40345972A>G
|
rs898010972
|
0.00004
|
NC_000022.11:g.40346228C>G
|
rs1426828844
|
0.00004
|
NC_000022.11:g.40346449G>C
|
rs554145337
|
0.00004
|
NC_000022.11:g.40346478G>C
|
rs936856129
|
0.00004
|
NM_000026.4(ADSL):c.1011-9G>C
|
rs780794164
|
0.00004
|
NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln)
|
rs568567422
|
0.00004
|
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser)
|
rs145750778
|
0.00004
|
NM_000026.4(ADSL):c.1279A>G (p.Ile427Val)
|
rs758241731
|
0.00004
|
NM_000026.4(ADSL):c.1355G>A (p.Arg452His)
|
rs775671027
|
0.00004
|
NM_000026.4(ADSL):c.245A>G (p.Lys82Arg)
|
rs776685935
|
0.00004
|
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln)
|
rs374047157
|
0.00004
|
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)
|
rs536254357
|
0.00004
|
NC_000022.11:g.40345484A>C
|
rs1386684080
|
0.00003
|
NC_000022.11:g.40345635T>C
|
rs1380960379
|
0.00003
|
NC_000022.11:g.40346063C>T
|
rs927109163
|
0.00003
|
NC_000022.11:g.40346104C>G
|
rs1293829192
|
0.00003
|
NC_000022.11:g.40346323C>A
|
rs756420450
|
0.00003
|
NC_000022.11:g.40346401G>T
|
rs1001687278
|
0.00003
|
NM_000026.4(ADSL):c.-11G>T
|
rs200713871
|
0.00003
|
NM_000026.4(ADSL):c.-12C>T
|
rs775388314
|
0.00003
|
NM_000026.4(ADSL):c.11G>T (p.Gly4Val)
|
rs766546584
|
0.00003
|
NM_000026.4(ADSL):c.153G>A (p.Gln51=)
|
rs1214023402
|
0.00003
|
NM_000026.4(ADSL):c.224A>G (p.Lys75Arg)
|
rs772345709
|
0.00003
|
NM_000026.4(ADSL):c.254G>A (p.Arg85Gln)
|
rs540648461
|
0.00003
|
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys)
|
rs766465184
|
0.00003
|
NM_000026.4(ADSL):c.451A>G (p.Ser151Gly)
|
rs147194356
|
0.00003
|
NM_000026.4(ADSL):c.763C>T (p.Leu255=)
|
rs771049726
|
0.00003
|
NM_000026.4(ADSL):c.896T>C (p.Met299Thr)
|
rs1364564756
|
0.00003
|
NC_000022.11:g.40345716C>T
|
rs978423465
|
0.00002
|
NC_000022.11:g.40346060T>C
|
rs998527385
|
0.00002
|
NC_000022.11:g.40346240T>C
|
rs752718206
|
0.00002
|
NC_000022.11:g.40346280T>A
|
rs1301796620
|
0.00002
|
NC_000022.11:g.40346408C>A
|
rs962543409
|
0.00002
|
NC_000022.11:g.40346417C>T
|
rs951357741
|
0.00002
|
NM_000026.4(ADSL):c.1053A>G (p.Ile351Met)
|
rs151095874
|
0.00002
|
NM_000026.4(ADSL):c.1061C>T (p.Thr354Met)
|
rs752238667
|
0.00002
|
NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr)
|
rs755688868
|
0.00002
|
NM_000026.4(ADSL):c.1212A>C (p.Arg404Ser)
|
rs781253590
|
0.00002
|
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)
|
rs119450943
|
0.00002
|
NM_000026.4(ADSL):c.129G>C (p.Trp43Cys)
|
rs770916318
|
0.00002
|
NM_000026.4(ADSL):c.20A>G (p.His7Arg)
|
rs377248090
|
0.00002
|
NM_000026.4(ADSL):c.262G>T (p.Val88Leu)
|
rs1329100297
|
0.00002
|
NM_000026.4(ADSL):c.49C>T (p.Leu17Phe)
|
rs1262658484
|
0.00002
|
NM_000026.4(ADSL):c.541A>G (p.Met181Val)
|
rs768542145
|
0.00002
|
NM_000026.4(ADSL):c.623T>A (p.Phe208Tyr)
|
rs776615568
|
0.00002
|
NM_000026.4(ADSL):c.769A>G (p.Ser257Gly)
|
rs775115015
|
0.00002
|
NM_000026.4(ADSL):c.7G>A (p.Ala3Thr)
|
rs1389806424
|
0.00002
|
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln)
|
rs755059672
|
0.00002
|
NM_000026.4(ADSL):c.898C>A (p.Arg300Ser)
|
rs369617680
|
0.00002
|
NM_000026.4(ADSL):c.985C>T (p.Arg329Cys)
|
rs370221257
|
0.00002
|
NC_000022.11:g.40345462C>T
|
rs925724663
|
0.00001
|
NC_000022.11:g.40345597G>A
|
rs1470349903
|
0.00001
|
NC_000022.11:g.40345624A>C
|
rs1178062153
|
0.00001
|
NC_000022.11:g.40345643T>C
|
rs1018230570
|
0.00001
|
NC_000022.11:g.40345669C>T
|
rs1386791712
|
0.00001
|
NC_000022.11:g.40345705A>T
|
rs968250682
|
0.00001
|
NC_000022.11:g.40345709C>A
|
rs1170425980
|
0.00001
|
NC_000022.11:g.40345764G>A
|
rs2044113487
|
0.00001
|
NC_000022.11:g.40345770A>G
|
rs1410879144
|
0.00001
|
NC_000022.11:g.40345855C>G
|
rs1307229331
|
0.00001
|
NC_000022.11:g.40345885C>G
|
rs868152963
|
0.00001
|
NC_000022.11:g.40345919C>T
|
rs1316024893
|
0.00001
|
NC_000022.11:g.40345927G>A
|
rs1197880670
|
0.00001
|
NC_000022.11:g.40345933T>C
|
rs1273326006
|
0.00001
|
NC_000022.11:g.40345934G>A
|
rs1428135725
|
0.00001
|
NC_000022.11:g.40345997G>A
|
rs376903282
|
0.00001
|
NC_000022.11:g.40346004G>A
|
rs1010283787
|
0.00001
|
NC_000022.11:g.40346022C>A
|
rs1465603644
|
0.00001
|
NC_000022.11:g.40346188G>C
|
rs1399154446
|
0.00001
|
NC_000022.11:g.40346269G>A
|
rs1258655937
|
0.00001
|
NC_000022.11:g.40346305G>A
|
rs1039907516
|
0.00001
|
NC_000022.11:g.40346353G>A
|
rs1273594576
|
0.00001
|
NC_000022.11:g.40346360G>A
|
rs1379918231
|
0.00001
|
NC_000022.11:g.40346377A>C
|
rs749450413
|
0.00001
|
NC_000022.11:g.40346386T>A
|
rs1469357773
|
0.00001
|
NC_000022.11:g.40346400C>A
|
rs376911964
|
0.00001
|
NC_000022.11:g.40346418G>C
|
rs986851841
|
0.00001
|
NC_000022.11:g.40346443C>G
|
rs1325872618
|
0.00001
|
NC_000022.11:g.40346456C>G
|
rs533768359
|
0.00001
|
NC_000022.11:g.40346489C>G
|
rs949660803
|
0.00001
|
NC_000022.11:g.40346493G>A
|
rs558397990
|
0.00001
|
NM_000026.2(ADSL):c.-64C>A
|
rs576843830
|
0.00001
|
NM_000026.4(ADSL):c.-31C>T
|
rs747293932
|
0.00001
|
NM_000026.4(ADSL):c.-32C>T
|
rs1420977984
|
0.00001
|
NM_000026.4(ADSL):c.-56T>A
|
rs1338979561
|
0.00001
|
NM_000026.4(ADSL):c.1011-3T>C
|
rs1376448837
|
0.00001
|
NM_000026.4(ADSL):c.101A>G (p.Tyr34Cys)
|
rs780994144
|
0.00001
|
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys)
|
rs774159147
|
0.00001
|
NM_000026.4(ADSL):c.1042G>A (p.Ala348Thr)
|
rs752735865
|
0.00001
|
NM_000026.4(ADSL):c.1088T>C (p.Val363Ala)
|
rs758895348
|
0.00001
|
NM_000026.4(ADSL):c.1093T>C (p.Tyr365His)
|
rs1395622939
|
0.00001
|
NM_000026.4(ADSL):c.1114C>A (p.Arg372Ser)
|
rs778401578
|
0.00001
|
NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp)
|
rs796052247
|
0.00001
|
NM_000026.4(ADSL):c.1138A>G (p.Met380Val)
|
rs368160421
|
0.00001
|
NM_000026.4(ADSL):c.1145C>T (p.Thr382Ile)
|
rs2044914041
|
0.00001
|
NM_000026.4(ADSL):c.1159A>G (p.Met387Val)
|
rs1264910912
|
0.00001
|
NM_000026.4(ADSL):c.1167G>A (p.Met389Ile)
|
rs766782678
|
0.00001
|
NM_000026.4(ADSL):c.1231G>A (p.Ala411Thr)
|
rs1196254689
|
0.00001
|
NM_000026.4(ADSL):c.1235C>T (p.Ser412Phe)
|
rs571597579
|
0.00001
|
NM_000026.4(ADSL):c.1252G>C (p.Gly418Arg)
|
rs372650859
|
0.00001
|
NM_000026.4(ADSL):c.1256G>T (p.Gly419Val)
|
rs886057505
|
0.00001
|
NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys)
|
rs796052248
|
0.00001
|
NM_000026.4(ADSL):c.1288G>A (p.Asp430Asn)
|
rs554254383
|
0.00001
|
NM_000026.4(ADSL):c.1337C>A (p.Pro446His)
|
rs755964863
|
0.00001
|
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)
|
rs777821034
|
0.00001
|
NM_000026.4(ADSL):c.1340C>T (p.Ser447Phe)
|
rs749427506
|
0.00001
|
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly)
|
rs796052250
|
0.00001
|
NM_000026.4(ADSL):c.146C>T (p.Ala49Val)
|
rs752938873
|
0.00001
|
NM_000026.4(ADSL):c.205C>G (p.Leu69Val)
|
rs200169254
|
0.00001
|
NM_000026.4(ADSL):c.258T>G (p.His86Gln)
|
rs1327764464
|
0.00001
|
NM_000026.4(ADSL):c.263T>C (p.Val88Ala)
|
rs149165656
|
0.00001
|
NM_000026.4(ADSL):c.271C>G (p.His91Asp)
|
rs755518176
|
0.00001
|
NM_000026.4(ADSL):c.274G>A (p.Val92Met)
|
rs763852823
|
0.00001
|
NM_000026.4(ADSL):c.357+4G>A
|
rs1230823834
|
0.00001
|
NM_000026.4(ADSL):c.366T>G (p.Ile122Met)
|
rs2044410316
|
0.00001
|
NM_000026.4(ADSL):c.370C>A (p.Leu124Ile)
|
rs2044410415
|
0.00001
|
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser)
|
rs771267221
|
0.00001
|
NM_000026.4(ADSL):c.403-3T>C
|
rs766286760
|
0.00001
|
NM_000026.4(ADSL):c.430G>A (p.Asp144Asn)
|
rs757413931
|
0.00001
|
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)
|
rs746180694
|
0.00001
|
NM_000026.4(ADSL):c.464T>C (p.Leu155Ser)
|
rs2044467047
|
0.00001
|
NM_000026.4(ADSL):c.46C>T (p.Pro16Ser)
|
rs753065207
|
0.00001
|
NM_000026.4(ADSL):c.475C>T (p.His159Tyr)
|
rs1310213333
|
0.00001
|
NM_000026.4(ADSL):c.47C>T (p.Pro16Leu)
|
rs541051390
|
0.00001
|
NM_000026.4(ADSL):c.482A>G (p.Gln161Arg)
|
rs8192457
|
0.00001
|
NM_000026.4(ADSL):c.563G>A (p.Arg188His)
|
rs761937276
|
0.00001
|
NM_000026.4(ADSL):c.579G>C (p.Leu193=)
|
rs751928831
|
0.00001
|
NM_000026.4(ADSL):c.586C>T (p.Arg196Trp)
|
rs376533106
|
0.00001
|
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln)
|
rs753245184
|
0.00001
|
NM_000026.4(ADSL):c.611C>T (p.Thr204Ile)
|
rs745524617
|
0.00001
|
NM_000026.4(ADSL):c.632T>A (p.Leu211His)
|
rs2044669605
|
0.00001
|
NM_000026.4(ADSL):c.793-5C>A
|
rs377164829
|
0.00001
|
NM_000026.4(ADSL):c.805A>G (p.Ile269Val)
|
rs759104126
|
0.00001
|
NM_000026.4(ADSL):c.808C>T (p.Arg270Cys)
|
rs181252862
|
0.00001
|
NM_000026.4(ADSL):c.809G>A (p.Arg270His)
|
rs760189192
|
0.00001
|
NM_000026.4(ADSL):c.842C>G (p.Pro281Arg)
|
rs371529148
|
0.00001
|
NM_000026.4(ADSL):c.853C>G (p.Gln285Glu)
|
rs796052246
|
0.00001
|
NM_000026.4(ADSL):c.854A>G (p.Gln285Arg)
|
rs2044779637
|
0.00001
|
NM_000026.4(ADSL):c.863G>C (p.Gly288Ala)
|
rs776328750
|
0.00001
|
NM_000026.4(ADSL):c.899G>A (p.Arg300His)
|
rs864309550
|
0.00001
|
NM_000026.4(ADSL):c.926G>A (p.Arg309His)
|
rs749817666
|
0.00001
|
NM_000026.4(ADSL):c.986G>A (p.Arg329His)
|
rs768203123
|
0.00001
|
NC_000022.10:g.(?_35776672)_(42486826_?)dup
|
|
|
NC_000022.10:g.(?_39621728)_(41077932_?)dup
|
|
|
NC_000022.10:g.(?_40742514)_(40762546_?)dup
|
|
|
NC_000022.11:g.(?_40346510)_(40353137_?)dup
|
|
|
NC_000022.11:g.(?_40364256)_(40366542_?)dup
|
|
|
NC_000022.11:g.40345463del
|
|
|
NC_000022.11:g.40345472C>T
|
rs1437272102
|
|
NC_000022.11:g.40345473G>A
|
rs934394588
|
|
NC_000022.11:g.40345481C>T
|
rs2146607081
|
|
NC_000022.11:g.40345495T>C
|
rs2146607102
|
|
NC_000022.11:g.40345502G>A
|
rs2044101814
|
|
NC_000022.11:g.40345505C>G
|
|
|
NC_000022.11:g.40345505C>T
|
|
|
NC_000022.11:g.40345507A>T
|
rs2044102028
|
|
NC_000022.11:g.40345513A>G
|
|
|
NC_000022.11:g.40345514C>T
|
|
|
NC_000022.11:g.40345517T>C
|
|
|
NC_000022.11:g.40345544T>C
|
rs2044103206
|
|
NC_000022.11:g.40345557A>G
|
|
|
NC_000022.11:g.40345560T>C
|
rs2044103495
|
|
NC_000022.11:g.40345563C>T
|
rs1014469698
|
|
NC_000022.11:g.40345566G>T
|
rs2146607321
|
|
NC_000022.11:g.40345571T>G
|
|
|
NC_000022.11:g.40345573T>C
|
|
|
NC_000022.11:g.40345588_40345589insAAAAAAAAGG
|
|
|
NC_000022.11:g.40345588_40345589insAAAAAAAG
|
|
|
NC_000022.11:g.40345588_40345589insAAAAAAGG
|
|
|
NC_000022.11:g.40345588_40345589insAAG
|
|
|
NC_000022.11:g.40345588_40345589insAGG
|
|
|
NC_000022.11:g.40345590G>A
|
rs897965743
|
|
NC_000022.11:g.40345590G>T
|
rs897965743
|
|
NC_000022.11:g.40345591G>T
|
|
|
NC_000022.11:g.40345592G>A
|
rs950048889
|
|
NC_000022.11:g.40345592G>C
|
|
|
NC_000022.11:g.40345594G>C
|
|
|
NC_000022.11:g.40345596G>A
|
|
|
NC_000022.11:g.40345597G>T
|
rs1470349903
|
|
NC_000022.11:g.40345597dup
|
|
|
NC_000022.11:g.40345600A>G
|
|
|
NC_000022.11:g.40345601C>G
|
|
|
NC_000022.11:g.40345604G>A
|
rs2146607753
|
|
NC_000022.11:g.40345606G>A
|
|
|
NC_000022.11:g.40345621TTTA[2]
|
rs2044109357
|
|
NC_000022.11:g.40345622_40345627del
|
|
|
NC_000022.11:g.40345631T>C
|
rs2146607888
|
|
NC_000022.11:g.40345635dup
|
rs1206371108
|
|
NC_000022.11:g.40345636_40345637del
|
|
|
NC_000022.11:g.40345636_40345639del
|
rs952409371
|
|
NC_000022.11:g.40345647dup
|
rs113688962
|
|
NC_000022.11:g.40345651G>A
|
|
|
NC_000022.11:g.40345658T>A
|
|
|
NC_000022.11:g.40345663CT[1]
|
|
|
NC_000022.11:g.40345670G>T
|
|
|
NC_000022.11:g.40345676G>A
|
rs1018543619
|
|
NC_000022.11:g.40345676G>C
|
|
|
NC_000022.11:g.40345683T>G
|
rs2146608173
|
|
NC_000022.11:g.40345686A>G
|
rs866097692
|
|
NC_000022.11:g.40345694G>A
|
rs2146608187
|
|
NC_000022.11:g.40345697C>T
|
rs547176744
|
|
NC_000022.11:g.40345699del
|
rs2146608197
|
|
NC_000022.11:g.40345709C>G
|
|
|
NC_000022.11:g.40345714_40345716dup
|
|
|
NC_000022.11:g.40345723C>A
|
|
|
NC_000022.11:g.40345726G>A
|
|
|
NC_000022.11:g.40345742T>A
|
rs557264711
|
|
NC_000022.11:g.40345803dup
|
rs1165283078
|
|
NC_000022.11:g.40345805T>C
|
rs2146608408
|
|
NC_000022.11:g.40345820del
|
rs2146608473
|
|
NC_000022.11:g.40345822G>A
|
|
|
NC_000022.11:g.40345827C>T
|
|
|
NC_000022.11:g.40345830G>C
|
rs927256177
|
|
NC_000022.11:g.40345847C>G
|
|
|
NC_000022.11:g.40345856C>T
|
|
|
NC_000022.11:g.40345860G>A
|
|
|
NC_000022.11:g.40345873G>A
|
|
|
NC_000022.11:g.40345873G>C
|
rs146387429
|
|
NC_000022.11:g.40345877G>A
|
|
|
NC_000022.11:g.40345887C>T
|
rs897153956
|
|
NC_000022.11:g.40345895G>A
|
|
|
NC_000022.11:g.40345898_40345911del
|
|
|
NC_000022.11:g.40345905C>T
|
rs1051195380
|
|
NC_000022.11:g.40345910G>A
|
|
|
NC_000022.11:g.40345917A>C
|
|
|
NC_000022.11:g.40345924C>T
|
|
|
NC_000022.11:g.40345926G>A
|
|
|
NC_000022.11:g.40345930C>T
|
|
|
NC_000022.11:g.40345931A>G
|
rs2146609004
|
|
NC_000022.11:g.40345952G>T
|
rs2044120214
|
|
NC_000022.11:g.40345954T>C
|
|
|
NC_000022.11:g.40345968C>G
|
rs742139
|
|
NC_000022.11:g.40345969_40345970del
|
rs2146609166
|
|
NC_000022.11:g.40345971C>T
|
rs1040260159
|
|
NC_000022.11:g.40345978C>G
|
|
|
NC_000022.11:g.40345982A>C
|
|
|
NC_000022.11:g.40345987C>A
|
|
|
NC_000022.11:g.40345993C>T
|
rs2146609240
|
|
NC_000022.11:g.40345994G>A
|
|
|
NC_000022.11:g.40345998C>A
|
|
|
NC_000022.11:g.40345999G>C
|
rs2146609261
|
|
NC_000022.11:g.40346011A>G
|
|
|
NC_000022.11:g.40346016G>A
|
rs1421868511
|
|
NC_000022.11:g.40346019G>A
|
rs1024075575
|
|
NC_000022.11:g.40346019G>T
|
|
|
NC_000022.11:g.40346027G>A
|
|
|
NC_000022.11:g.40346032_40346033del
|
rs1359178555
|
|
NC_000022.11:g.40346037dup
|
|
|
NC_000022.11:g.40346039dup
|
rs1396866470
|
|
NC_000022.11:g.40346049T>C
|
rs562792922
|
|
NC_000022.11:g.40346052A>C
|
|
|
NC_000022.11:g.40346058C>A
|
rs79742008
|
|
NC_000022.11:g.40346065_40346067del
|
rs2146609595
|
|
NC_000022.11:g.40346083C>G
|
|
|
NC_000022.11:g.40346089C>T
|
rs2146609641
|
|
NC_000022.11:g.40346116C>A
|
rs77895579
|
|
NC_000022.11:g.40346117C>T
|
|
|
NC_000022.11:g.40346117_40346119del
|
|
|
NC_000022.11:g.40346117_40346120del
|
|
|
NC_000022.11:g.40346135T>G
|
|
|
NC_000022.11:g.40346147T>C
|
|
|
NC_000022.11:g.40346158C>T
|
rs2146610168
|
|
NC_000022.11:g.40346158del
|
rs528311466
|
|
NC_000022.11:g.40346161G>C
|
|
|
NC_000022.11:g.40346165G>T
|
rs909204
|
|
NC_000022.11:g.40346180C>G
|
|
|
NC_000022.11:g.40346188G>T
|
|
|
NC_000022.11:g.40346189T>G
|
rs2146610277
|
|
NC_000022.11:g.40346200C>T
|
|
|
NC_000022.11:g.40346222C>T
|
|
|
NC_000022.11:g.40346230C>G
|
rs2044131436
|
|
NC_000022.11:g.40346236G>A
|
|
|
NC_000022.11:g.40346243G>A
|
|
|
NC_000022.11:g.40346245T>C
|
|
|
NC_000022.11:g.40346275G>A
|
|
|
NC_000022.11:g.40346276G>A
|
rs540176537
|
|
NC_000022.11:g.40346283_40346292del
|
|
|
NC_000022.11:g.40346287G>A
|
|
|
NC_000022.11:g.40346289A>G
|
rs1601541349
|
|
NC_000022.11:g.40346304G>A
|
|
|
NC_000022.11:g.40346313A>C
|
rs2146610598
|
|
NC_000022.11:g.40346324G>A
|
rs1000950960
|
|
NC_000022.11:g.40346329A>C
|
rs2146610651
|
|
NC_000022.11:g.40346339G>A
|
rs2146610710
|
|
NC_000022.11:g.40346350C>T
|
|
|
NC_000022.11:g.40346357C>A
|
rs2146610771
|
|
NC_000022.11:g.40346358T>C
|
rs2146610772
|
|
NC_000022.11:g.40346371G>T
|
rs777987980
|
|
NC_000022.11:g.40346374C>G
|
rs1024378498
|
|
NC_000022.11:g.40346377A>T
|
rs749450413
|
|
NC_000022.11:g.40346385C>A
|
|
|
NC_000022.11:g.40346389G>A
|
|
|
NC_000022.11:g.40346390G>A
|
|
|
NC_000022.11:g.40346398A>G
|
|
|
NC_000022.11:g.40346402G>A
|
rs181976442
|
|
NC_000022.11:g.40346402G>C
|
rs181976442
|
|
NC_000022.11:g.40346406T>C
|
|
|
NC_000022.11:g.40346409T>C
|
rs2146611034
|
|
NC_000022.11:g.40346418G>T
|
|
|
NC_000022.11:g.40346420C>T
|
|
|
NC_000022.11:g.40346422G>C
|
rs2146611167
|
|
NC_000022.11:g.40346424G>A
|
rs186550906
|
|
NC_000022.11:g.40346424G>T
|
|
|
NC_000022.11:g.40346427C>G
|
rs2044138563
|
|
NC_000022.11:g.40346432C>A
|
rs190560535
|
|
NC_000022.11:g.40346432C>G
|
rs190560535
|
|
NC_000022.11:g.40346433G>A
|
rs1284184707
|
|
NC_000022.11:g.40346434C>T
|
|
|
NC_000022.11:g.40346436C>T
|
|
|
NC_000022.11:g.40346438G>C
|
rs1286138763
|
|
NC_000022.11:g.40346450C>T
|
|
|
NC_000022.11:g.40346453G>C
|
|
|
NC_000022.11:g.40346456C>A
|
rs533768359
|
|
NC_000022.11:g.40346457G>A
|
|
|
NC_000022.11:g.40346465G>A
|
|
|
NC_000022.11:g.40346472C>T
|
|
|
NC_000022.11:g.40346473G>C
|
|
|
NC_000022.11:g.40346474C>A
|
rs2146611525
|
|
NC_000022.11:g.40346477_40346491dup
|
|
|
NC_000022.11:g.40346482C>T
|
|
|
NC_000022.11:g.40346482_40346491dup
|
rs2146611569
|
|
NC_000022.11:g.40346483G>A
|
rs892749175
|
|
NC_000022.11:g.40346484_40346493del
|
rs2146611602
|
|
NC_000022.11:g.40346488G>A
|
rs2146611643
|
|
NC_000022.11:g.40346489C>T
|
rs949660803
|
|
NC_000022.11:g.40346491del
|
|
|
NC_000022.11:g.40346492T>G
|
|
|
NM_000026.4(ADSL):c.-10C>G
|
|
|
NM_000026.4(ADSL):c.-15G>A
|
|
|
NM_000026.4(ADSL):c.-18C>A
|
rs745531733
|
|
NM_000026.4(ADSL):c.-20G>T
|
rs1601542242
|
|
NM_000026.4(ADSL):c.-21T>A
|
|
|
NM_000026.4(ADSL):c.-27C>A
|
rs1294310669
|
|
NM_000026.4(ADSL):c.-29G>C
|
rs2044143205
|
|
NM_000026.4(ADSL):c.-35G>C
|
rs750649096
|
|
NM_000026.4(ADSL):c.-35G>T
|
rs750649096
|
|
NM_000026.4(ADSL):c.-37C>T
|
|
|
NM_000026.4(ADSL):c.-44C>G
|
rs763900902
|
|
NM_000026.4(ADSL):c.-51G>A
|
|
|
NM_000026.4(ADSL):c.1008C>G (p.Asn336Lys)
|
rs2146663691
|
|
NM_000026.4(ADSL):c.100T>C (p.Tyr34His)
|
rs1434292876
|
|
NM_000026.4(ADSL):c.1013G>T (p.Arg338Leu)
|
|
|
NM_000026.4(ADSL):c.1051A>G (p.Ile351Val)
|
rs2146667776
|
|
NM_000026.4(ADSL):c.1081G>A (p.Gly361Arg)
|
|
|
NM_000026.4(ADSL):c.1096C>G (p.Pro366Ala)
|
|
|
NM_000026.4(ADSL):c.10G>A (p.Gly4Arg)
|
rs2146612211
|
|
NM_000026.4(ADSL):c.1101+6_1101+8del
|
rs2146668021
|
|
NM_000026.4(ADSL):c.1102-6C>G
|
rs758666194
|
|
NM_000026.4(ADSL):c.1111C>T (p.Arg371Trp)
|
rs777359946
|
|
NM_000026.4(ADSL):c.1117A>G (p.Ile373Val)
|
|
|
NM_000026.4(ADSL):c.11G>C (p.Gly4Ala)
|
rs766546584
|
|
NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu)
|
rs754714101
|
|
NM_000026.4(ADSL):c.1240G>T (p.Val414Phe)
|
rs2146673676
|
|
NM_000026.4(ADSL):c.1253G>A (p.Gly418Glu)
|
rs774693972
|
|
NM_000026.4(ADSL):c.1258G>A (p.Asp420Asn)
|
rs2044942817
|
|
NM_000026.4(ADSL):c.1261_1263del (p.Asn421del)
|
rs778107338
|
|
NM_000026.4(ADSL):c.1286T>C (p.Val429Ala)
|
|
|
NM_000026.4(ADSL):c.1295A>G (p.Tyr432Cys)
|
|
|
NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys)
|
rs1265053994
|
|
NM_000026.4(ADSL):c.1349C>T (p.Thr450Ile)
|
rs372895468
|
|
NM_000026.4(ADSL):c.1354C>T (p.Arg452Cys)
|
rs572438339
|
|
NM_000026.4(ADSL):c.1358C>A (p.Ala453Asp)
|
rs2044948939
|
|
NM_000026.4(ADSL):c.1364dup (p.Gln456fs)
|
|
|
NM_000026.4(ADSL):c.1365G>T (p.Gln455His)
|
rs1011687452
|
|
NM_000026.4(ADSL):c.1368+4A>C
|
rs2146674336
|
|
NM_000026.4(ADSL):c.1368G>A (p.Gln456=)
|
|
|
NM_000026.4(ADSL):c.1369G>T (p.Val457Leu)
|
rs747385959
|
|
NM_000026.4(ADSL):c.1371dup (p.Gln458fs)
|
|
|
NM_000026.4(ADSL):c.1393G>C (p.Val465Leu)
|
rs1569104977
|
|
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg)
|
rs1057521071
|
|
NM_000026.4(ADSL):c.1405T>A (p.Leu469Ile)
|
rs768999974
|
|
NM_000026.4(ADSL):c.140C>T (p.Ala47Val)
|
rs759704594
|
|
NM_000026.4(ADSL):c.1422C>G (p.Ser474Arg)
|
rs748593655
|
|
NM_000026.4(ADSL):c.1423G>A (p.Val475Met)
|
rs1158489609
|
|
NM_000026.4(ADSL):c.1428G>A (p.Met476Ile)
|
rs773810168
|
|
NM_000026.4(ADSL):c.142G>A (p.Glu48Lys)
|
|
|
NM_000026.4(ADSL):c.1431_1436del (p.Val478_Lys479del)
|
|
|
NM_000026.4(ADSL):c.1443A>C (p.Glu481Asp)
|
rs1424823421
|
|
NM_000026.4(ADSL):c.1448G>A (p.Cys483Tyr)
|
rs371242331
|
|
NM_000026.4(ADSL):c.1454A>G (p.Ter485Trp)
|
|
|
NM_000026.4(ADSL):c.155C>A (p.Thr52Lys)
|
rs1380095056
|
|
NM_000026.4(ADSL):c.161G>A (p.Gly54Asp)
|
rs765813625
|
|
NM_000026.4(ADSL):c.173C>G (p.Thr58Arg)
|
rs544172142
|
|
NM_000026.4(ADSL):c.175G>A (p.Asp59Asn)
|
|
|
NM_000026.4(ADSL):c.17A>T (p.Asp6Val)
|
rs1314470860
|
|
NM_000026.4(ADSL):c.197A>C (p.Lys66Thr)
|
|
|
NM_000026.4(ADSL):c.197A>T (p.Lys66Ile)
|
rs796052251
|
|
NM_000026.4(ADSL):c.19C>G (p.His7Asp)
|
rs778590882
|
|
NM_000026.4(ADSL):c.216C>G (p.Ile72Met)
|
rs145786986
|
|
NM_000026.4(ADSL):c.217G>A (p.Asp73Asn)
|
rs745787396
|
|
NM_000026.4(ADSL):c.226A>C (p.Met76Leu)
|
rs145306334
|
|
NM_000026.4(ADSL):c.227T>C (p.Met76Thr)
|
|
|
NM_000026.4(ADSL):c.244A>C (p.Lys82Gln)
|
rs768958353
|
|
NM_000026.4(ADSL):c.248G>A (p.Arg83His)
|
|
|
NM_000026.4(ADSL):c.257A>G (p.His86Arg)
|
rs2044280567
|
|
NM_000026.4(ADSL):c.271C>T (p.His91Tyr)
|
rs755518176
|
|
NM_000026.4(ADSL):c.274G>T (p.Val92Leu)
|
rs763852823
|
|
NM_000026.4(ADSL):c.278A>G (p.His93Arg)
|
|
|
NM_000026.4(ADSL):c.28C>G (p.Pro10Ala)
|
rs768340455
|
|
NM_000026.4(ADSL):c.304G>T (p.Ala102Ser)
|
|
|
NM_000026.4(ADSL):c.319C>T (p.His107Tyr)
|
rs2146623366
|
|
NM_000026.4(ADSL):c.31G>C (p.Asp11His)
|
rs761759515
|
|
NM_000026.4(ADSL):c.328G>A (p.Ala110Thr)
|
|
|
NM_000026.4(ADSL):c.347G>A (p.Gly116Glu)
|
rs768596079
|
|
NM_000026.4(ADSL):c.357T>C (p.Thr119=)
|
rs2146623601
|
|
NM_000026.4(ADSL):c.36C>A (p.Ser12Arg)
|
rs773098808
|
|
NM_000026.4(ADSL):c.386A>G (p.Asp129Gly)
|
|
|
NM_000026.4(ADSL):c.402+6G>A
|
rs2146634344
|
|
NM_000026.4(ADSL):c.407C>T (p.Ala136Val)
|
rs1569091418
|
|
NM_000026.4(ADSL):c.41G>T (p.Arg14Leu)
|
rs371824098
|
|
NM_000026.4(ADSL):c.446G>A (p.Arg149Gln)
|
rs747546394
|
|
NM_000026.4(ADSL):c.449C>G (p.Ala150Gly)
|
|
|
NM_000026.4(ADSL):c.482+3A>T
|
|
|
NM_000026.4(ADSL):c.482+8A>G
|
rs886042606
|
|
NM_000026.4(ADSL):c.502G>A (p.Val168Ile)
|
rs1385675650
|
|
NM_000026.4(ADSL):c.511C>T (p.Arg171Cys)
|
|
|
NM_000026.4(ADSL):c.51T>A (p.Leu17=)
|
rs2146612540
|
|
NM_000026.4(ADSL):c.527T>C (p.Ile176Thr)
|
|
|
NM_000026.4(ADSL):c.541A>T (p.Met181Leu)
|
rs768542145
|
|
NM_000026.4(ADSL):c.543G>A (p.Met181Ile)
|
|
|
NM_000026.4(ADSL):c.568C>G (p.Arg190Gly)
|
|
|
NM_000026.4(ADSL):c.56C>T (p.Ser19Phe)
|
|
|
NM_000026.4(ADSL):c.572A>G (p.Asp191Gly)
|
|
|
NM_000026.4(ADSL):c.574G>T (p.Asp192Tyr)
|
|
|
NM_000026.4(ADSL):c.578T>C (p.Leu193Pro)
|
rs2044667301
|
|
NM_000026.4(ADSL):c.581G>A (p.Arg194His)
|
rs755359802
|
|
NM_000026.4(ADSL):c.590G>A (p.Gly197Glu)
|
rs2146653850
|
|
NM_000026.4(ADSL):c.5C>T (p.Ala2Val)
|
rs143083947
|
|
NM_000026.4(ADSL):c.608G>A (p.Gly203Asp)
|
rs2044668344
|
|
NM_000026.4(ADSL):c.611C>G (p.Thr204Ser)
|
rs745524617
|
|
NM_000026.4(ADSL):c.617C>G (p.Ala206Gly)
|
rs746848060
|
|
NM_000026.4(ADSL):c.618C>T (p.Ala206=)
|
|
|
NM_000026.4(ADSL):c.62A>G (p.Tyr21Cys)
|
|
|
NM_000026.4(ADSL):c.639G>T (p.Glu213Asp)
|
|
|
NM_000026.4(ADSL):c.644A>G (p.Asp215Gly)
|
rs1311483271
|
|
NM_000026.4(ADSL):c.649C>T (p.His217Tyr)
|
rs199761158
|
|
NM_000026.4(ADSL):c.655-42_655-8del
|
rs2146654480
|
|
NM_000026.4(ADSL):c.655G>A (p.Val219Ile)
|
rs1555907605
|
|
NM_000026.4(ADSL):c.655G>T (p.Val219Leu)
|
rs1555907605
|
|
NM_000026.4(ADSL):c.701+3A>G
|
|
|
NM_000026.4(ADSL):c.702-3T>A
|
rs1229114572
|
|
NM_000026.4(ADSL):c.712A>G (p.Ile238Val)
|
rs2146658688
|
|
NM_000026.4(ADSL):c.753_761del (p.Ser253_Leu255del)
|
rs769288234
|
|
NM_000026.4(ADSL):c.770G>A (p.Ser257Asn)
|
|
|
NM_000026.4(ADSL):c.779C>T (p.Ala260Val)
|
rs1601586537
|
|
NM_000026.4(ADSL):c.785T>C (p.Val262Ala)
|
rs2044740915
|
|
NM_000026.4(ADSL):c.792+5G>C
|
rs761153103
|
|
NM_000026.4(ADSL):c.793-3C>T
|
rs2044774129
|
|
NM_000026.4(ADSL):c.818C>T (p.Ala273Val)
|
rs962521087
|
|
NM_000026.4(ADSL):c.820A>G (p.Asn274Asp)
|
rs2146662052
|
|
NM_000026.4(ADSL):c.832A>G (p.Met278Val)
|
rs2044778052
|
|
NM_000026.4(ADSL):c.842C>T (p.Pro281Leu)
|
rs371529148
|
|
NM_000026.4(ADSL):c.845T>C (p.Phe282Ser)
|
rs2146662152
|
|
NM_000026.4(ADSL):c.859A>G (p.Ile287Val)
|
rs1209918065
|
|
NM_000026.4(ADSL):c.869G>A (p.Ser290Asn)
|
rs2044788172
|
|
NM_000026.4(ADSL):c.872C>T (p.Ala291Val)
|
rs2044788378
|
|
NM_000026.4(ADSL):c.891T>A (p.Asn297Lys)
|
rs2044789747
|
|
NM_000026.4(ADSL):c.898C>T (p.Arg300Cys)
|
rs369617680
|
|
NM_000026.4(ADSL):c.8C>G (p.Ala3Gly)
|
rs2044145822
|
|
NM_000026.4(ADSL):c.908G>A (p.Arg303His)
|
|
|
NM_000026.4(ADSL):c.913T>G (p.Cys305Gly)
|
rs2146663371
|
|
NM_000026.4(ADSL):c.916A>G (p.Ser306Gly)
|
rs1006262492
|
|
NM_000026.4(ADSL):c.919C>T (p.Leu307Phe)
|
rs2044790556
|
|
NM_000026.4(ADSL):c.946A>G (p.Met316Val)
|
rs2044791557
|
|
NM_000026.4(ADSL):c.962C>T (p.Thr321Ile)
|
rs1243449413
|
|
NM_000026.4(ADSL):c.974A>G (p.Gln325Arg)
|
rs1484677062
|
|
NM_000026.4(ADSL):c.978G>T (p.Trp326Cys)
|
rs1224557562
|
|
NM_000026.4(ADSL):c.979T>C (p.Phe327Leu)
|
|
|
NM_000026.4(ADSL):c.97A>C (p.Arg33=)
|
|
|