NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)
|
rs145296488
|
0.00114
|
NM_004204.5(PIGQ):c.1571G>A (p.Arg524Lys)
|
rs143762913
|
0.00051
|
NM_004204.5(PIGQ):c.902G>A (p.Arg301His)
|
rs371210440
|
0.00044
|
NM_004204.5(PIGQ):c.1117G>A (p.Val373Met)
|
rs150887807
|
0.00040
|
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val)
|
rs201870762
|
0.00030
|
NM_004204.5(PIGQ):c.1579C>T (p.Arg527Cys)
|
rs201414474
|
0.00025
|
NM_004204.5(PIGQ):c.1430T>C (p.Val477Ala)
|
rs202225619
|
0.00023
|
NM_001165963.4(SCN1A):c.*1795G>A
|
rs189183531
|
0.00021
|
NM_004204.5(PIGQ):c.158G>A (p.Arg53Gln)
|
rs182739177
|
0.00019
|
NM_004204.5(PIGQ):c.290G>T (p.Cys97Phe)
|
rs78957457
|
0.00019
|
NM_004204.5(PIGQ):c.400C>T (p.Arg134Cys)
|
rs199780849
|
0.00019
|
NM_004204.5(PIGQ):c.466A>G (p.Thr156Ala)
|
rs761546913
|
0.00018
|
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln)
|
rs145670933
|
0.00016
|
NM_004204.5(PIGQ):c.335G>A (p.Arg112Gln)
|
rs200272055
|
0.00016
|
NM_004204.5(PIGQ):c.355G>A (p.Gly119Ser)
|
rs146122020
|
0.00016
|
NM_004204.5(PIGQ):c.833C>T (p.Thr278Met)
|
rs370004325
|
0.00016
|
NM_001165963.4(SCN1A):c.*129T>G
|
rs886055040
|
0.00015
|
NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=)
|
rs142571794
|
0.00015
|
NM_004204.5(PIGQ):c.1685G>A (p.Arg562His)
|
rs372069327
|
0.00014
|
NM_004204.5(PIGQ):c.476C>T (p.Thr159Met)
|
rs377253487
|
0.00014
|
NM_004204.5(PIGQ):c.821+3G>A
|
rs199735408
|
0.00014
|
NM_004204.5(PIGQ):c.1173T>G (p.Ile391Met)
|
rs772434140
|
0.00013
|
NM_004204.5(PIGQ):c.928G>A (p.Val310Ile)
|
rs137907943
|
0.00012
|
NM_001165963.4(SCN1A):c.*1989C>T
|
rs371391758
|
0.00011
|
NM_001165963.4(SCN1A):c.*460A>C
|
rs746164130
|
0.00011
|
NM_004204.5(PIGQ):c.946G>A (p.Val316Met)
|
rs1441077523
|
0.00011
|
NM_004204.5(PIGQ):c.148G>T (p.Ala50Ser)
|
rs760734408
|
0.00010
|
NM_004204.5(PIGQ):c.1675G>A (p.Ala559Thr)
|
rs202068219
|
0.00010
|
NM_004204.5(PIGQ):c.690-3C>T
|
rs370348620
|
0.00010
|
NM_004204.5(PIGQ):c.919G>A (p.Asp307Asn)
|
rs377584601
|
0.00010
|
NM_004204.5(PIGQ):c.91G>A (p.Val31Met)
|
rs148273392
|
0.00010
|
NM_001365536.1(SCN9A):c.328T>C (p.Ser110Pro)
|
rs201503351
|
0.00009
|
NM_004204.5(PIGQ):c.1438G>A (p.Val480Met)
|
rs148537594
|
0.00009
|
NM_004204.5(PIGQ):c.1151C>T (p.Ala384Val)
|
rs201364919
|
0.00008
|
NM_004204.5(PIGQ):c.512G>A (p.Arg171His)
|
rs775456149
|
0.00007
|
NM_001165963.4(SCN1A):c.2176+11A>C
|
rs201604887
|
0.00006
|
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=)
|
rs201592683
|
0.00006
|
NM_004204.5(PIGQ):c.1302G>T (p.Gln434His)
|
rs147895518
|
0.00006
|
NM_004204.5(PIGQ):c.1514G>A (p.Arg505Gln)
|
rs760318704
|
0.00006
|
NM_004204.5(PIGQ):c.295G>A (p.Glu99Lys)
|
rs200383861
|
0.00006
|
NM_004204.5(PIGQ):c.530G>A (p.Arg177His)
|
rs774945335
|
0.00006
|
NM_004204.5(PIGQ):c.65G>A (p.Arg22Gln)
|
rs372361502
|
0.00006
|
NM_004204.5(PIGQ):c.325G>A (p.Ala109Thr)
|
rs767785877
|
0.00005
|
NM_004204.5(PIGQ):c.682G>C (p.Ala228Pro)
|
rs768970883
|
0.00005
|
NM_004204.5(PIGQ):c.751C>T (p.Arg251Trp)
|
rs368598376
|
0.00005
|
NM_004204.5(PIGQ):c.1370T>G (p.Leu457Arg)
|
rs201005406
|
0.00004
|
NM_004204.5(PIGQ):c.1417-3C>T
|
rs199992680
|
0.00004
|
NM_004204.5(PIGQ):c.1504C>T (p.Arg502Trp)
|
rs377161206
|
0.00004
|
NM_004204.5(PIGQ):c.215A>T (p.Glu72Val)
|
rs771592713
|
0.00004
|
NM_004204.5(PIGQ):c.220G>A (p.Glu74Lys)
|
rs776641714
|
0.00004
|
NM_004204.5(PIGQ):c.493G>A (p.Val165Ile)
|
rs544941071
|
0.00004
|
NM_004204.5(PIGQ):c.874C>G (p.Leu292Val)
|
rs150145867
|
0.00004
|
NM_000079.4(CHRNA1):c.410C>T (p.Thr137Met)
|
rs780391418
|
0.00003
|
NM_001165963.4(SCN1A):c.*1950G>A
|
rs773354801
|
0.00003
|
NM_004204.5(PIGQ):c.1069A>G (p.Ser357Gly)
|
rs914268596
|
0.00003
|
NM_004204.5(PIGQ):c.1106T>C (p.Ile369Thr)
|
rs760367328
|
0.00003
|
NM_004204.5(PIGQ):c.1177G>A (p.Ala393Thr)
|
rs747332120
|
0.00003
|
NM_004204.5(PIGQ):c.1336-3C>T
|
rs1357963752
|
0.00003
|
NM_004204.5(PIGQ):c.1382C>T (p.Pro461Leu)
|
rs771351668
|
0.00003
|
NM_004204.5(PIGQ):c.1547G>A (p.Arg516His)
|
rs376467540
|
0.00003
|
NM_004204.5(PIGQ):c.1561G>A (p.Glu521Lys)
|
rs766902402
|
0.00003
|
NM_004204.5(PIGQ):c.208C>T (p.Arg70Trp)
|
rs774564687
|
0.00003
|
NM_004204.5(PIGQ):c.341C>T (p.Ala114Val)
|
rs777579910
|
0.00003
|
NM_004204.5(PIGQ):c.448C>T (p.Arg150Cys)
|
rs542951123
|
0.00003
|
NM_004204.5(PIGQ):c.499G>A (p.Asp167Asn)
|
rs144825405
|
0.00003
|
NM_004204.5(PIGQ):c.539G>A (p.Arg180His)
|
rs376046019
|
0.00003
|
NM_004204.5(PIGQ):c.634A>C (p.Ile212Leu)
|
rs758356668
|
0.00003
|
NM_004204.5(PIGQ):c.676G>A (p.Val226Ile)
|
rs376471933
|
0.00003
|
NM_004204.5(PIGQ):c.794A>G (p.Lys265Arg)
|
rs375666595
|
0.00003
|
NM_004204.5(PIGQ):c.797C>T (p.Ala266Val)
|
rs528254518
|
0.00003
|
NM_004204.5(PIGQ):c.856G>A (p.Val286Met)
|
rs575220879
|
0.00003
|
NM_004204.5(PIGQ):c.907G>A (p.Gly303Arg)
|
rs747818784
|
0.00003
|
NM_001165963.4(SCN1A):c.1882T>A (p.Ser628Thr)
|
rs752639991
|
0.00002
|
NM_001165963.4(SCN1A):c.3012T>C (p.Asp1004=)
|
rs748537030
|
0.00002
|
NM_004204.5(PIGQ):c.1011C>G (p.Asn337Lys)
|
rs1256668223
|
0.00002
|
NM_004204.5(PIGQ):c.1036C>G (p.Arg346Gly)
|
rs767160386
|
0.00002
|
NM_004204.5(PIGQ):c.1166C>T (p.Ser389Leu)
|
rs1396938371
|
0.00002
|
NM_004204.5(PIGQ):c.1223+6C>T
|
rs778074464
|
0.00002
|
NM_004204.5(PIGQ):c.1256C>T (p.Ser419Leu)
|
rs750802445
|
0.00002
|
NM_004204.5(PIGQ):c.1306G>A (p.Val436Met)
|
rs763106194
|
0.00002
|
NM_004204.5(PIGQ):c.1530G>A (p.Ala510=)
|
rs369390648
|
0.00002
|
NM_004204.5(PIGQ):c.1537G>A (p.Val513Met)
|
rs200922564
|
0.00002
|
NM_004204.5(PIGQ):c.1634G>A (p.Arg545His)
|
rs749557732
|
0.00002
|
NM_004204.5(PIGQ):c.209G>A (p.Arg70Gln)
|
rs747901484
|
0.00002
|
NM_004204.5(PIGQ):c.242T>C (p.Leu81Pro)
|
rs1467620158
|
0.00002
|
NM_004204.5(PIGQ):c.334C>T (p.Arg112Trp)
|
rs374015287
|
0.00002
|
NM_004204.5(PIGQ):c.445G>A (p.Asp149Asn)
|
rs867573847
|
0.00002
|
NM_004204.5(PIGQ):c.529C>T (p.Arg177Cys)
|
rs764707741
|
0.00002
|
NM_004204.5(PIGQ):c.604G>A (p.Ala202Thr)
|
rs762452022
|
0.00002
|
NM_004204.5(PIGQ):c.613G>T (p.Ala205Ser)
|
rs1555451827
|
0.00002
|
NM_004204.5(PIGQ):c.626C>T (p.Ser209Leu)
|
rs764793325
|
0.00002
|
NM_004204.5(PIGQ):c.689G>A (p.Arg230Gln)
|
rs1251694138
|
0.00002
|
NM_004204.5(PIGQ):c.819G>A (p.Met273Ile)
|
rs746245143
|
0.00002
|
NM_001165963.4(SCN1A):c.*1121T>C
|
rs886055034
|
0.00001
|
NM_001165963.4(SCN1A):c.*1482G>A
|
rs886055033
|
0.00001
|
NM_001165963.4(SCN1A):c.*259T>C
|
rs886055039
|
0.00001
|
NM_001165963.4(SCN1A):c.*912T>A
|
rs886055036
|
0.00001
|
NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=)
|
rs750943685
|
0.00001
|
NM_001165963.4(SCN1A):c.4581+12C>T
|
rs886055042
|
0.00001
|
NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=)
|
rs770111331
|
0.00001
|
NM_004204.5(PIGQ):c.1096G>A (p.Val366Met)
|
rs2035762945
|
0.00001
|
NM_004204.5(PIGQ):c.110A>G (p.His37Arg)
|
rs1453234953
|
0.00001
|
NM_004204.5(PIGQ):c.1145C>T (p.Thr382Met)
|
rs780359107
|
0.00001
|
NM_004204.5(PIGQ):c.1154T>C (p.Leu385Pro)
|
rs2035764214
|
0.00001
|
NM_004204.5(PIGQ):c.1273C>T (p.Arg425Trp)
|
rs748937327
|
0.00001
|
NM_004204.5(PIGQ):c.12G>T (p.Lys4Asn)
|
rs1463376903
|
0.00001
|
NM_004204.5(PIGQ):c.1421G>A (p.Arg474Gln)
|
rs368953625
|
0.00001
|
NM_004204.5(PIGQ):c.1435G>A (p.Ala479Thr)
|
rs982164826
|
0.00001
|
NM_004204.5(PIGQ):c.1454A>G (p.His485Arg)
|
rs769102651
|
0.00001
|
NM_004204.5(PIGQ):c.1462G>A (p.Val488Met)
|
rs1206255851
|
0.00001
|
NM_004204.5(PIGQ):c.1487T>C (p.Leu496Pro)
|
rs746073489
|
0.00001
|
NM_004204.5(PIGQ):c.1513C>T (p.Arg505Trp)
|
rs1483235042
|
0.00001
|
NM_004204.5(PIGQ):c.1517C>T (p.Pro506Leu)
|
rs146518413
|
0.00001
|
NM_004204.5(PIGQ):c.1531+3A>T
|
rs1371249981
|
0.00001
|
NM_004204.5(PIGQ):c.1564G>T (p.Ala522Ser)
|
rs754210132
|
0.00001
|
NM_004204.5(PIGQ):c.157C>T (p.Arg53Trp)
|
rs753705578
|
0.00001
|
NM_004204.5(PIGQ):c.1593G>A (p.Gln531=)
|
rs772229096
|
0.00001
|
NM_004204.5(PIGQ):c.1616G>A (p.Arg539His)
|
rs201105616
|
0.00001
|
NM_004204.5(PIGQ):c.1631dup (p.Tyr544Ter)
|
rs760045515
|
0.00001
|
NM_004204.5(PIGQ):c.1633C>T (p.Arg545Cys)
|
rs775925962
|
0.00001
|
NM_004204.5(PIGQ):c.1640C>G (p.Pro547Arg)
|
rs1243574378
|
0.00001
|
NM_004204.5(PIGQ):c.1669T>G (p.Trp557Gly)
|
rs772656271
|
0.00001
|
NM_004204.5(PIGQ):c.1688A>G (p.Lys563Arg)
|
rs1385011604
|
0.00001
|
NM_004204.5(PIGQ):c.1720A>G (p.Arg574Gly)
|
rs750460655
|
0.00001
|
NM_004204.5(PIGQ):c.194C>T (p.Thr65Ile)
|
rs780499636
|
0.00001
|
NM_004204.5(PIGQ):c.19T>G (p.Phe7Val)
|
rs887947608
|
0.00001
|
NM_004204.5(PIGQ):c.233G>C (p.Gly78Ala)
|
rs1309943856
|
0.00001
|
NM_004204.5(PIGQ):c.236G>A (p.Arg79His)
|
rs1424030074
|
0.00001
|
NM_004204.5(PIGQ):c.293G>A (p.Arg98Gln)
|
rs746519944
|
0.00001
|
NM_004204.5(PIGQ):c.38C>T (p.Ser13Leu)
|
rs755870667
|
0.00001
|
NM_004204.5(PIGQ):c.422T>C (p.Leu141Pro)
|
rs751953516
|
0.00001
|
NM_004204.5(PIGQ):c.473G>A (p.Ser158Asn)
|
rs201595639
|
0.00001
|
NM_004204.5(PIGQ):c.481G>T (p.Gly161Cys)
|
rs752008411
|
0.00001
|
NM_004204.5(PIGQ):c.514A>G (p.Ser172Gly)
|
rs1008809041
|
0.00001
|
NM_004204.5(PIGQ):c.538C>T (p.Arg180Cys)
|
rs768063812
|
0.00001
|
NM_004204.5(PIGQ):c.560G>A (p.Arg187Gln)
|
rs1375714125
|
0.00001
|
NM_004204.5(PIGQ):c.586G>A (p.Val196Met)
|
rs980584148
|
0.00001
|
NM_004204.5(PIGQ):c.601C>T (p.Leu201Phe)
|
rs1415009669
|
0.00001
|
NM_004204.5(PIGQ):c.618G>C (p.Arg206Ser)
|
rs1375197363
|
0.00001
|
NM_004204.5(PIGQ):c.64C>T (p.Arg22Trp)
|
rs751055581
|
0.00001
|
NM_004204.5(PIGQ):c.662C>T (p.Ser221Leu)
|
rs1331791399
|
0.00001
|
NM_004204.5(PIGQ):c.707C>T (p.Pro236Leu)
|
rs147675216
|
0.00001
|
NM_004204.5(PIGQ):c.721G>A (p.Gly241Arg)
|
rs959172804
|
0.00001
|
NM_004204.5(PIGQ):c.737C>T (p.Thr246Met)
|
rs771310546
|
0.00001
|
NM_004204.5(PIGQ):c.74C>T (p.Pro25Leu)
|
rs531991910
|
0.00001
|
NM_004204.5(PIGQ):c.77A>G (p.Glu26Gly)
|
rs753650660
|
0.00001
|
NM_004204.5(PIGQ):c.805C>T (p.Pro269Ser)
|
rs1283058431
|
0.00001
|
NM_004204.5(PIGQ):c.82A>T (p.Ser28Cys)
|
rs1299731760
|
0.00001
|
NM_004204.5(PIGQ):c.842C>G (p.Ser281Cys)
|
rs1004719821
|
0.00001
|
NM_004204.5(PIGQ):c.847C>G (p.Leu283Val)
|
rs1475166338
|
0.00001
|
NM_004204.5(PIGQ):c.872T>C (p.Met291Thr)
|
rs545824092
|
0.00001
|
NM_004204.5(PIGQ):c.885G>T (p.Trp295Cys)
|
rs1249538886
|
0.00001
|
NM_004204.5(PIGQ):c.890A>C (p.His297Pro)
|
rs1479438663
|
0.00001
|
NM_004204.5(PIGQ):c.892G>A (p.Gly298Arg)
|
rs750484214
|
0.00001
|
NM_004204.5(PIGQ):c.901C>T (p.Arg301Cys)
|
rs754231407
|
0.00001
|
NM_004204.5(PIGQ):c.913C>G (p.Leu305Val)
|
rs771818509
|
0.00001
|
NM_004204.5(PIGQ):c.943-3C>T
|
rs368120433
|
0.00001
|
NM_004204.5(PIGQ):c.986G>A (p.Gly329Asp)
|
rs1274248153
|
0.00001
|
NC_000002.11:g.165492423_165973543dup
|
|
|
NC_000016.10:g.(?_582883)_(648190_?)del
|
|
|
NC_000016.9:g.(?_256302)_(4852572_?)dup
|
|
|
NC_000016.9:g.(?_289853)_(626274_?)dup
|
|
|
NC_000016.9:g.(?_624055)_(2153916_?)dup
|
|
|
NM_000079.4(CHRNA1):c.710A>T (p.Asn237Ile)
|
rs1558911753
|
|
NM_001165963.4(SCN1A):c.*1872del
|
rs878898132
|
|
NM_001165963.4(SCN1A):c.*672_*675del
|
rs886055038
|
|
NM_001165963.4(SCN1A):c.*878dup
|
rs886055037
|
|
NM_001165963.4(SCN1A):c.*977T>C
|
rs886055035
|
|
NM_001165963.4(SCN1A):c.2044-14A>T
|
rs537722606
|
|
NM_001165963.4(SCN1A):c.2459T>C (p.Ile820Thr)
|
rs886055045
|
|
NM_001165963.4(SCN1A):c.3513T>C (p.Pro1171=)
|
rs886055044
|
|
NM_001165963.4(SCN1A):c.3880-10G>C
|
rs886055043
|
|
NM_001165963.4(SCN1A):c.565C>G (p.Pro189Ala)
|
rs886055046
|
|
NM_001165963.4(SCN1A):c.5992G>C (p.Glu1998Gln)
|
rs886055041
|
|
NM_001353921.2(ARHGEF9):c.211-5C>T
|
rs1569481993
|
|
NM_004204.5(PIGQ):c.1007T>G (p.Met336Arg)
|
|
|
NM_004204.5(PIGQ):c.100G>C (p.Ala34Pro)
|
|
|
NM_004204.5(PIGQ):c.1012C>A (p.Arg338Ser)
|
rs559762174
|
|
NM_004204.5(PIGQ):c.1012C>G (p.Arg338Gly)
|
rs559762174
|
|
NM_004204.5(PIGQ):c.1015G>A (p.Ala339Thr)
|
|
|
NM_004204.5(PIGQ):c.101C>T (p.Ala34Val)
|
|
|
NM_004204.5(PIGQ):c.1026G>A (p.Gln342=)
|
|
|
NM_004204.5(PIGQ):c.1029G>C (p.Val343=)
|
|
|
NM_004204.5(PIGQ):c.1071C>G (p.Ser357Arg)
|
|
|
NM_004204.5(PIGQ):c.1072T>C (p.Tyr358His)
|
|
|
NM_004204.5(PIGQ):c.1088C>A (p.Ser363Tyr)
|
rs200912387
|
|
NM_004204.5(PIGQ):c.1094_1095inv (p.Phe365Ter)
|
|
|
NM_004204.5(PIGQ):c.1097T>C (p.Val366Ala)
|
rs2151047289
|
|
NM_004204.5(PIGQ):c.1127C>T (p.Ser376Leu)
|
|
|
NM_004204.5(PIGQ):c.1130C>T (p.Ala377Val)
|
rs1567176628
|
|
NM_004204.5(PIGQ):c.1133G>C (p.Cys378Ser)
|
|
|
NM_004204.5(PIGQ):c.1139G>A (p.Gly380Asp)
|
|
|
NM_004204.5(PIGQ):c.115C>T (p.Pro39Ser)
|
|
|
NM_004204.5(PIGQ):c.1160T>G (p.Leu387Arg)
|
rs778851261
|
|
NM_004204.5(PIGQ):c.1162C>T (p.Leu388Phe)
|
rs2151047356
|
|
NM_004204.5(PIGQ):c.1167G>A (p.Ser389=)
|
rs576698468
|
|
NM_004204.5(PIGQ):c.1178C>T (p.Ala393Val)
|
|
|
NM_004204.5(PIGQ):c.1210G>A (p.Val404Ile)
|
rs558909404
|
|
NM_004204.5(PIGQ):c.1210G>T (p.Val404Phe)
|
|
|
NM_004204.5(PIGQ):c.1213T>C (p.Tyr405His)
|
|
|
NM_004204.5(PIGQ):c.121A>T (p.Ile41Phe)
|
rs2151044199
|
|
NM_004204.5(PIGQ):c.1223+3G>A
|
|
|
NM_004204.5(PIGQ):c.1244A>G (p.His415Arg)
|
rs2035771354
|
|
NM_004204.5(PIGQ):c.124C>G (p.Pro42Ala)
|
|
|
NM_004204.5(PIGQ):c.1258C>G (p.Leu420Val)
|
rs1000483000
|
|
NM_004204.5(PIGQ):c.125C>T (p.Pro42Leu)
|
|
|
NM_004204.5(PIGQ):c.12G>A (p.Lys4=)
|
rs1463376903
|
|
NM_004204.5(PIGQ):c.1324G>A (p.Asp442Asn)
|
|
|
NM_004204.5(PIGQ):c.1380G>T (p.Leu460=)
|
|
|
NM_004204.5(PIGQ):c.1388C>T (p.Thr463Ile)
|
|
|
NM_004204.5(PIGQ):c.1397A>G (p.Tyr466Cys)
|
rs368650262
|
|
NM_004204.5(PIGQ):c.1406T>C (p.Val469Ala)
|
|
|
NM_004204.5(PIGQ):c.1416+3G>A
|
rs763735684
|
|
NM_004204.5(PIGQ):c.1417C>G (p.Leu473Val)
|
|
|
NM_004204.5(PIGQ):c.1417C>T (p.Leu473Phe)
|
rs2035798066
|
|
NM_004204.5(PIGQ):c.1429G>A (p.Val477Met)
|
|
|
NM_004204.5(PIGQ):c.1453C>T (p.His485Tyr)
|
|
|
NM_004204.5(PIGQ):c.1457T>G (p.Leu486Arg)
|
|
|
NM_004204.5(PIGQ):c.1487T>A (p.Leu496Gln)
|
|
|
NM_004204.5(PIGQ):c.1505G>T (p.Arg502Leu)
|
rs145602990
|
|
NM_004204.5(PIGQ):c.1511G>A (p.Cys504Tyr)
|
rs2151048966
|
|
NM_004204.5(PIGQ):c.1520A>G (p.Tyr507Cys)
|
rs1037601270
|
|
NM_004204.5(PIGQ):c.1528G>T (p.Ala510Ser)
|
rs199901158
|
|
NM_004204.5(PIGQ):c.1529C>A (p.Ala510Glu)
|
|
|
NM_004204.5(PIGQ):c.1529C>T (p.Ala510Val)
|
rs752541286
|
|
NM_004204.5(PIGQ):c.1531+5G>A
|
rs2035801003
|
|
NM_004204.5(PIGQ):c.1532-5T>C
|
|
|
NM_004204.5(PIGQ):c.1546C>T (p.Arg516Cys)
|
rs144613953
|
|
NM_004204.5(PIGQ):c.1547G>C (p.Arg516Pro)
|
|
|
NM_004204.5(PIGQ):c.1549G>A (p.Val517Ile)
|
rs1452689348
|
|
NM_004204.5(PIGQ):c.1555C>T (p.Arg519Trp)
|
rs768824250
|
|
NM_004204.5(PIGQ):c.1560C>G (p.His520Gln)
|
rs561397217
|
|
NM_004204.5(PIGQ):c.156G>A (p.Val52=)
|
|
|
NM_004204.5(PIGQ):c.1571G>C (p.Arg524Thr)
|
|
|
NM_004204.5(PIGQ):c.1580G>A (p.Arg527His)
|
rs745593701
|
|
NM_004204.5(PIGQ):c.1593+1G>T
|
rs2035827351
|
|
NM_004204.5(PIGQ):c.1616G>T (p.Arg539Leu)
|
rs201105616
|
|
NM_004204.5(PIGQ):c.1618G>A (p.Val540Met)
|
rs1369795901
|
|
NM_004204.5(PIGQ):c.1621G>A (p.Val541Met)
|
|
|
NM_004204.5(PIGQ):c.1628C>G (p.Thr543Ser)
|
rs142961139
|
|
NM_004204.5(PIGQ):c.1628C>T (p.Thr543Ile)
|
rs142961139
|
|
NM_004204.5(PIGQ):c.1636C>T (p.Leu546Phe)
|
|
|
NM_004204.5(PIGQ):c.1639C>A (p.Pro547Thr)
|
|
|
NM_004204.5(PIGQ):c.1684C>T (p.Arg562Cys)
|
|
|
NM_004204.5(PIGQ):c.1684del (p.Arg562fs)
|
rs1295848867
|
|
NM_004204.5(PIGQ):c.1685G>T (p.Arg562Leu)
|
|
|
NM_004204.5(PIGQ):c.1690C>G (p.Leu564Val)
|
|
|
NM_004204.5(PIGQ):c.1696C>T (p.Leu566Phe)
|
rs2035837258
|
|
NM_004204.5(PIGQ):c.1717T>A (p.Trp573Arg)
|
rs781446048
|
|
NM_004204.5(PIGQ):c.1717del (p.Trp573fs)
|
rs2151050295
|
|
NM_004204.5(PIGQ):c.1723C>T (p.Gln575Ter)
|
|
|
NM_004204.5(PIGQ):c.1728_1729del (p.Asp578fs)
|
rs2035837726
|
|
NM_004204.5(PIGQ):c.1730G>A (p.Gly577Glu)
|
rs1567178400
|
|
NM_004204.5(PIGQ):c.1736A>G (p.Lys579Arg)
|
|
|
NM_004204.5(PIGQ):c.1741G>A (p.Asp581Asn)
|
rs576801855
|
|
NM_004204.5(PIGQ):c.178G>A (p.Val60Met)
|
rs1417725796
|
|
NM_004204.5(PIGQ):c.184G>A (p.Val62Met)
|
rs770308646
|
|
NM_004204.5(PIGQ):c.1A>C (p.Met1Leu)
|
|
|
NM_004204.5(PIGQ):c.212A>G (p.Gln71Arg)
|
rs373072203
|
|
NM_004204.5(PIGQ):c.227G>A (p.Ser76Asn)
|
|
|
NM_004204.5(PIGQ):c.227G>T (p.Ser76Ile)
|
|
|
NM_004204.5(PIGQ):c.234_254del (p.Arg79_Gly85del)
|
rs770707223
|
|
NM_004204.5(PIGQ):c.23C>A (p.Pro8His)
|
rs763664510
|
|
NM_004204.5(PIGQ):c.271G>A (p.Glu91Lys)
|
|
|
NM_004204.5(PIGQ):c.271G>C (p.Glu91Gln)
|
rs750533490
|
|
NM_004204.5(PIGQ):c.272_273delinsTT (p.Glu91Val)
|
|
|
NM_004204.5(PIGQ):c.275C>A (p.Pro92His)
|
|
|
NM_004204.5(PIGQ):c.283C>T (p.Arg95Trp)
|
|
|
NM_004204.5(PIGQ):c.284G>A (p.Arg95Gln)
|
|
|
NM_004204.5(PIGQ):c.28T>G (p.Cys10Gly)
|
rs2151044098
|
|
NM_004204.5(PIGQ):c.332A>C (p.His111Pro)
|
rs2151044384
|
|
NM_004204.5(PIGQ):c.333C>A (p.His111Gln)
|
rs753882585
|
|
NM_004204.5(PIGQ):c.335G>C (p.Arg112Pro)
|
rs200272055
|
|
NM_004204.5(PIGQ):c.340G>A (p.Ala114Thr)
|
rs758619621
|
|
NM_004204.5(PIGQ):c.352C>T (p.Pro118Ser)
|
rs2151044408
|
|
NM_004204.5(PIGQ):c.364G>C (p.Gly122Arg)
|
rs1445684819
|
|
NM_004204.5(PIGQ):c.386TCT[1] (p.Phe130del)
|
|
|
NM_004204.5(PIGQ):c.38C>G (p.Ser13Trp)
|
rs755870667
|
|
NM_004204.5(PIGQ):c.399G>C (p.Gln133His)
|
|
|
NM_004204.5(PIGQ):c.39_40delinsAG (p.Thr14Ala)
|
rs1555451582
|
|
NM_004204.5(PIGQ):c.40_41inv (p.Thr14Val)
|
|
|
NM_004204.5(PIGQ):c.412C>G (p.Leu138Val)
|
rs139840454
|
|
NM_004204.5(PIGQ):c.488C>G (p.Ala163Gly)
|
rs767292546
|
|
NM_004204.5(PIGQ):c.499G>C (p.Asp167His)
|
|
|
NM_004204.5(PIGQ):c.502A>T (p.Thr168Ser)
|
rs372058981
|
|
NM_004204.5(PIGQ):c.503C>T (p.Thr168Met)
|
rs771796362
|
|
NM_004204.5(PIGQ):c.511C>T (p.Arg171Cys)
|
|
|
NM_004204.5(PIGQ):c.517G>C (p.Glu173Gln)
|
|
|
NM_004204.5(PIGQ):c.520G>A (p.Val174Met)
|
|
|
NM_004204.5(PIGQ):c.527T>C (p.Phe176Ser)
|
rs1596382723
|
|
NM_004204.5(PIGQ):c.532A>C (p.Ser178Arg)
|
rs2151044564
|
|
NM_004204.5(PIGQ):c.554C>G (p.Pro185Arg)
|
rs2151044586
|
|
NM_004204.5(PIGQ):c.556G>A (p.Val186Met)
|
rs369384971
|
|
NM_004204.5(PIGQ):c.559C>T (p.Arg187Trp)
|
rs778834598
|
|
NM_004204.5(PIGQ):c.566G>A (p.Ser189Asn)
|
rs1159912419
|
|
NM_004204.5(PIGQ):c.578C>T (p.Ser193Leu)
|
rs2035689661
|
|
NM_004204.5(PIGQ):c.602T>C (p.Leu201Pro)
|
rs2151044641
|
|
NM_004204.5(PIGQ):c.605C>A (p.Ala202Glu)
|
rs368941189
|
|
NM_004204.5(PIGQ):c.605C>T (p.Ala202Val)
|
rs368941189
|
|
NM_004204.5(PIGQ):c.608A>C (p.Glu203Ala)
|
rs2035690687
|
|
NM_004204.5(PIGQ):c.616A>T (p.Arg206Trp)
|
|
|
NM_004204.5(PIGQ):c.625T>G (p.Ser209Ala)
|
|
|
NM_004204.5(PIGQ):c.629G>T (p.Gly210Val)
|
rs752169643
|
|
NM_004204.5(PIGQ):c.637T>C (p.Cys213Arg)
|
|
|
NM_004204.5(PIGQ):c.638_639delinsTT (p.Cys213Phe)
|
rs2035691564
|
|
NM_004204.5(PIGQ):c.643C>G (p.Leu215Val)
|
rs1567175086
|
|
NM_004204.5(PIGQ):c.643_644delinsAC (p.Leu215Thr)
|
rs2151044707
|
|
NM_004204.5(PIGQ):c.688C>G (p.Arg230Gly)
|
|
|
NM_004204.5(PIGQ):c.690-3C>A
|
rs370348620
|
|
NM_004204.5(PIGQ):c.700C>T (p.Leu234Phe)
|
|
|
NM_004204.5(PIGQ):c.706C>T (p.Pro236Ser)
|
rs868670706
|
|
NM_004204.5(PIGQ):c.710T>C (p.Leu237Pro)
|
|
|
NM_004204.5(PIGQ):c.719T>C (p.Leu240Pro)
|
rs1265303263
|
|
NM_004204.5(PIGQ):c.734C>G (p.Ser245Cys)
|
|
|
NM_004204.5(PIGQ):c.734C>T (p.Ser245Phe)
|
|
|
NM_004204.5(PIGQ):c.741C>G (p.Cys247Trp)
|
|
|
NM_004204.5(PIGQ):c.746A>G (p.Gln249Arg)
|
rs2151045345
|
|
NM_004204.5(PIGQ):c.754C>T (p.His252Tyr)
|
rs2151045358
|
|
NM_004204.5(PIGQ):c.755A>C (p.His252Pro)
|
rs2035708379
|
|
NM_004204.5(PIGQ):c.758G>A (p.Arg253Gln)
|
|
|
NM_004204.5(PIGQ):c.761T>C (p.Leu254Pro)
|
rs2151045368
|
|
NM_004204.5(PIGQ):c.76G>C (p.Glu26Gln)
|
rs2151044155
|
|
NM_004204.5(PIGQ):c.791G>A (p.Arg264Gln)
|
|
|
NM_004204.5(PIGQ):c.804C>A (p.Asn268Lys)
|
|
|
NM_004204.5(PIGQ):c.817A>G (p.Met273Val)
|
|
|
NM_004204.5(PIGQ):c.822-20G>A
|
|
|
NM_004204.5(PIGQ):c.832A>G (p.Thr278Ala)
|
rs1596383861
|
|
NM_004204.5(PIGQ):c.852G>A (p.Leu284=)
|
|
|
NM_004204.5(PIGQ):c.856G>T (p.Val286Leu)
|
rs575220879
|
|
NM_004204.5(PIGQ):c.865G>A (p.Gly289Ser)
|
|
|
NM_004204.5(PIGQ):c.865G>C (p.Gly289Arg)
|
rs960501850
|
|
NM_004204.5(PIGQ):c.86G>A (p.Ser29Asn)
|
|
|
NM_004204.5(PIGQ):c.892G>T (p.Gly298Trp)
|
|
|
NM_004204.5(PIGQ):c.902G>C (p.Arg301Pro)
|
rs371210440
|
|
NM_004204.5(PIGQ):c.942+5G>A
|
rs2035716269
|
|
NM_004204.5(PIGQ):c.942C>T (p.Asp314=)
|
|
|
NM_004204.5(PIGQ):c.952G>A (p.Glu318Lys)
|
|
|
NM_014777.4(URB2):c.1949del (p.Gly650fs)
|
rs1665832767
|
|
Single allele
|
|
|