NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=)
|
rs1126058
|
0.99080
|
NM_152419.3(HGSNAT):c.*1801T>C
|
rs3739431
|
0.87926
|
NM_152419.3(HGSNAT):c.371+82C>T
|
rs10958738
|
0.72852
|
NM_152419.3(HGSNAT):c.1377+20G>A
|
rs17603428
|
0.24049
|
NM_152419.3(HGSNAT):c.*1216G>A
|
rs73569597
|
0.04598
|
NM_152419.3(HGSNAT):c.*1780C>T
|
rs1058608
|
0.04517
|
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)
|
rs73569592
|
0.03631
|
NM_152419.3(HGSNAT):c.*1231G>A
|
rs61743005
|
0.03511
|
NM_152419.3(HGSNAT):c.*585T>C
|
rs73675470
|
0.02497
|
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile)
|
rs73675469
|
0.02491
|
NM_152419.3(HGSNAT):c.*817C>T
|
rs78952714
|
0.01352
|
NM_152419.3(HGSNAT):c.1727-9C>G
|
rs76750342
|
0.01160
|
NM_152419.3(HGSNAT):c.*3213T>A
|
rs141634395
|
0.00899
|
NM_152419.3(HGSNAT):c.*733G>T
|
rs139144727
|
0.00863
|
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)
|
rs148632988
|
0.00633
|
NM_152419.3(HGSNAT):c.*2258A>G
|
rs78930544
|
0.00584
|
NM_152419.3(HGSNAT):c.*477G>A
|
rs76878005
|
0.00567
|
NM_152419.3(HGSNAT):c.*1212C>T
|
rs186132187
|
0.00506
|
NM_152419.3(HGSNAT):c.*2767C>T
|
rs74762381
|
0.00479
|
NM_152419.3(HGSNAT):c.1250+7G>A
|
rs74795999
|
0.00475
|
NM_152419.3(HGSNAT):c.*2068A>G
|
rs141499920
|
0.00389
|
NM_152419.3(HGSNAT):c.*2341G>A
|
rs143662681
|
0.00364
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_152419.3(HGSNAT):c.*2740C>T
|
rs114940430
|
0.00314
|
NM_152419.3(HGSNAT):c.234+14C>G
|
rs146429523
|
0.00245
|
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=)
|
rs182393180
|
0.00177
|
NM_152419.3(HGSNAT):c.*3176G>A
|
rs138613130
|
0.00146
|
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile)
|
rs200750044
|
0.00138
|
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys)
|
rs202128129
|
0.00134
|
NM_152419.3(HGSNAT):c.*871C>A
|
rs151315641
|
0.00133
|
NM_152419.3(HGSNAT):c.*149G>T
|
rs191719106
|
0.00116
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=)
|
rs200678234
|
0.00080
|
NM_152419.3(HGSNAT):c.*304C>A
|
rs752711559
|
0.00078
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
NM_152419.3(HGSNAT):c.*778T>C
|
rs557848863
|
0.00070
|
NM_152419.3(HGSNAT):c.*772C>G
|
rs538483135
|
0.00069
|
NM_152419.3(HGSNAT):c.*390G>A
|
rs541493842
|
0.00060
|
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=)
|
rs376924663
|
0.00059
|
NM_152419.3(HGSNAT):c.765C>T (p.Val255=)
|
rs137963729
|
0.00046
|
NM_152419.3(HGSNAT):c.*3198G>A
|
rs576281567
|
0.00042
|
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=)
|
rs372909374
|
0.00038
|
NM_152419.3(HGSNAT):c.*2591G>A
|
rs760484403
|
0.00033
|
NM_152419.3(HGSNAT):c.*3086C>T
|
rs531967582
|
0.00033
|
NM_152419.3(HGSNAT):c.*1251C>A
|
rs756060730
|
0.00032
|
NM_152419.3(HGSNAT):c.*2266G>T
|
rs75120048
|
0.00025
|
NM_152419.3(HGSNAT):c.*106G>A
|
rs186881132
|
0.00024
|
NM_152419.3(HGSNAT):c.*2538A>G
|
rs192349256
|
0.00019
|
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=)
|
rs147251143
|
0.00019
|
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser)
|
rs371273730
|
0.00018
|
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=)
|
rs371042202
|
0.00017
|
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)
|
rs372961495
|
0.00016
|
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)
|
rs202001245
|
0.00016
|
NM_152419.3(HGSNAT):c.*2472G>C
|
rs773357212
|
0.00014
|
NM_152419.3(HGSNAT):c.*2502A>G
|
rs763278248
|
0.00014
|
NM_152419.3(HGSNAT):c.493+1G>A
|
rs193066451
|
0.00013
|
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)
|
rs369292480
|
0.00011
|
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met)
|
rs367831580
|
0.00010
|
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly)
|
rs773104757
|
0.00010
|
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)
|
rs775663094
|
0.00009
|
NM_152419.3(HGSNAT):c.1145C>G (p.Ser382Cys)
|
rs201735532
|
0.00008
|
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala)
|
rs369469113
|
0.00008
|
NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr)
|
rs369975831
|
0.00008
|
NM_152419.3(HGSNAT):c.*1215C>T
|
rs571287184
|
0.00007
|
NM_152419.3(HGSNAT):c.*1854C>T
|
rs567024411
|
0.00007
|
NM_152419.3(HGSNAT):c.*851A>G
|
rs192792114
|
0.00007
|
NM_152419.3(HGSNAT):c.*1064A>G
|
rs886062958
|
0.00006
|
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp)
|
rs371469177
|
0.00006
|
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met)
|
rs761054871
|
0.00006
|
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn)
|
rs367799225
|
0.00006
|
NM_152419.3(HGSNAT):c.704C>T (p.Ala235Val)
|
rs777641646
|
0.00006
|
NM_152419.3(HGSNAT):c.*1034G>A
|
rs886062957
|
0.00005
|
NM_152419.3(HGSNAT):c.*1436A>G
|
rs373032953
|
0.00005
|
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp)
|
rs200238482
|
0.00005
|
NM_152419.3(HGSNAT):c.691T>C (p.Trp231Arg)
|
rs980989948
|
0.00005
|
NM_152419.3(HGSNAT):c.*1112C>T
|
rs1403363860
|
0.00004
|
NM_152419.3(HGSNAT):c.*1378C>T
|
rs886062960
|
0.00004
|
NM_152419.3(HGSNAT):c.*2233G>A
|
rs372413542
|
0.00004
|
NM_152419.3(HGSNAT):c.*2643G>A
|
rs141803972
|
0.00004
|
NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe)
|
rs369280586
|
0.00004
|
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)
|
rs766835582
|
0.00004
|
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)
|
rs756310864
|
0.00004
|
NM_152419.3(HGSNAT):c.1793A>G (p.Lys598Arg)
|
rs553588867
|
0.00004
|
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)
|
rs772611068
|
0.00004
|
NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile)
|
rs374287774
|
0.00004
|
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser)
|
rs368452647
|
0.00004
|
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=)
|
rs752466254
|
0.00004
|
NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala)
|
rs201952563
|
0.00004
|
NM_152419.3(HGSNAT):c.*1137C>T
|
rs142422330
|
0.00003
|
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)
|
rs775078211
|
0.00003
|
NM_152419.3(HGSNAT):c.1441G>T (p.Val481Leu)
|
rs746875137
|
0.00003
|
NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg)
|
rs368082613
|
0.00003
|
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met)
|
rs200416815
|
0.00003
|
NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp)
|
rs375524490
|
0.00003
|
NM_152419.3(HGSNAT):c.*619T>C
|
rs1000241712
|
0.00002
|
NM_152419.3(HGSNAT):c.*649A>G
|
rs1333110406
|
0.00002
|
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=)
|
rs772729729
|
0.00002
|
NM_152419.3(HGSNAT):c.1128+3G>A
|
rs1401358094
|
0.00002
|
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)
|
rs764206492
|
0.00002
|
NM_152419.3(HGSNAT):c.1250+1G>A
|
rs398124544
|
0.00002
|
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)
|
rs753355844
|
0.00002
|
NM_152419.3(HGSNAT):c.1614-10C>T
|
rs755029430
|
0.00002
|
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met)
|
rs377050184
|
0.00002
|
NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=)
|
rs367648422
|
0.00002
|
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)
|
rs754875934
|
0.00002
|
NM_152419.3(HGSNAT):c.371+15T>A
|
rs372920077
|
0.00002
|
NM_152419.3(HGSNAT):c.372-2A>G
|
rs483352896
|
0.00002
|
NM_152419.3(HGSNAT):c.636G>T (p.Glu212Asp)
|
rs774990357
|
0.00002
|
NM_152419.3(HGSNAT):c.*160C>T
|
rs886062955
|
0.00001
|
NM_152419.3(HGSNAT):c.*1841G>A
|
rs886062962
|
0.00001
|
NM_152419.3(HGSNAT):c.*2305A>G
|
rs886062963
|
0.00001
|
NM_152419.3(HGSNAT):c.*2756G>A
|
rs564747354
|
0.00001
|
NM_152419.3(HGSNAT):c.*2801C>G
|
rs886062964
|
0.00001
|
NM_152419.3(HGSNAT):c.*2967C>T
|
rs549454910
|
0.00001
|
NM_152419.3(HGSNAT):c.*3241A>G
|
rs886062966
|
0.00001
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
NM_152419.3(HGSNAT):c.1099G>A (p.Ala367Thr)
|
rs1476919967
|
0.00001
|
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=)
|
rs770462636
|
0.00001
|
NM_152419.3(HGSNAT):c.1129-2A>T
|
rs749568919
|
0.00001
|
NM_152419.3(HGSNAT):c.1231C>A (p.Pro411Thr)
|
rs1804531287
|
0.00001
|
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser)
|
rs538620581
|
0.00001
|
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs)
|
rs483352894
|
0.00001
|
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs)
|
rs771455190
|
0.00001
|
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=)
|
rs779611596
|
0.00001
|
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)
|
rs121908284
|
0.00001
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro)
|
rs1433404175
|
0.00001
|
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter)
|
rs747240928
|
0.00001
|
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe)
|
rs121908286
|
0.00001
|
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met)
|
rs561701894
|
0.00001
|
NM_152419.3(HGSNAT):c.1768G>A (p.Glu590Lys)
|
rs1163166400
|
0.00001
|
NM_152419.3(HGSNAT):c.1850C>T (p.Ala617Val)
|
rs776791119
|
0.00001
|
NM_152419.3(HGSNAT):c.234+1G>A
|
rs483352908
|
0.00001
|
NM_152419.3(HGSNAT):c.234C>T (p.His78=)
|
rs760790643
|
0.00001
|
NM_152419.3(HGSNAT):c.322G>A (p.Gly108Arg)
|
rs1427202401
|
0.00001
|
NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)
|
rs768887468
|
0.00001
|
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro)
|
rs765211666
|
0.00001
|
NM_152419.3(HGSNAT):c.493+809T>C
|
rs1042066401
|
0.00001
|
NM_152419.3(HGSNAT):c.533T>G (p.Ile178Ser)
|
rs752128693
|
0.00001
|
NM_152419.3(HGSNAT):c.563+3A>G
|
rs753027018
|
0.00001
|
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)
|
rs1355715592
|
0.00001
|
NM_152419.3(HGSNAT):c.619C>T (p.Arg207Cys)
|
rs199861011
|
0.00001
|
NM_152419.3(HGSNAT):c.659A>G (p.Asp220Gly)
|
rs1803591916
|
0.00001
|
NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala)
|
rs758464800
|
0.00001
|
NM_152419.3(HGSNAT):c.841G>A (p.Val281Met)
|
rs1287447019
|
0.00001
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
NM_152419.3(HGSNAT):c.852-2A>C
|
rs755710040
|
0.00001
|
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)
|
rs372933126
|
0.00001
|
NM_152419.3(HGSNAT):c.888G>A (p.Ser296=)
|
rs780309535
|
0.00001
|
NM_152419.3(HGSNAT):c.928T>C (p.Leu310=)
|
rs1358940142
|
0.00001
|
NM_152419.3(HGSNAT):c.*1026G>C
|
rs533282054
|
|
NM_152419.3(HGSNAT):c.*1086G>C
|
rs145370743
|
|
NM_152419.3(HGSNAT):c.*1204C>A
|
rs763225051
|
|
NM_152419.3(HGSNAT):c.*1214C>A
|
rs1250097718
|
|
NM_152419.3(HGSNAT):c.*1219G>A
|
rs989915640
|
|
NM_152419.3(HGSNAT):c.*1331T>A
|
rs543569352
|
|
NM_152419.3(HGSNAT):c.*1584A>G
|
rs1804905348
|
|
NM_152419.3(HGSNAT):c.*1696T>G
|
rs1278712308
|
|
NM_152419.3(HGSNAT):c.*1750C>T
|
rs886062961
|
|
NM_152419.3(HGSNAT):c.*1925A>G
|
rs1804916088
|
|
NM_152419.3(HGSNAT):c.*1942A>G
|
rs112626858
|
|
NM_152419.3(HGSNAT):c.*196T>G
|
rs886062956
|
|
NM_152419.3(HGSNAT):c.*2434G>A
|
rs1804930624
|
|
NM_152419.3(HGSNAT):c.*2620A>C
|
rs1804936973
|
|
NM_152419.3(HGSNAT):c.*2755C>T
|
rs76686222
|
|
NM_152419.3(HGSNAT):c.*2802C>G
|
rs187372766
|
|
NM_152419.3(HGSNAT):c.*2806G>C
|
rs541393074
|
|
NM_152419.3(HGSNAT):c.*2950A>G
|
rs1804948886
|
|
NM_152419.3(HGSNAT):c.*574C>G
|
rs1804870887
|
|
NM_152419.3(HGSNAT):c.*581T>C
|
rs772452020
|
|
NM_152419.3(HGSNAT):c.*600C>T
|
rs377372501
|
|
NM_152419.3(HGSNAT):c.*612A>C
|
rs1325231089
|
|
NM_152419.3(HGSNAT):c.*857C>T
|
rs143991538
|
|
NM_152419.3(HGSNAT):c.1012+2dup
|
rs1554533241
|
|
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met)
|
rs1318217031
|
|
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter)
|
rs752939204
|
|
NM_152419.3(HGSNAT):c.1052G>A (p.Arg351Gln)
|
rs1299209150
|
|
NM_152419.3(HGSNAT):c.1058_1059insT (p.Val354fs)
|
|
|
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=)
|
rs757385876
|
|
NM_152419.3(HGSNAT):c.1112C>T (p.Pro371Leu)
|
rs1804152812
|
|
NM_152419.3(HGSNAT):c.1128G>T (p.Ser376=)
|
rs770462636
|
|
NM_152419.3(HGSNAT):c.1151G>T (p.Arg384Leu)
|
rs377486419
|
|
NM_152419.3(HGSNAT):c.1170G>A (p.Trp390Ter)
|
rs1804526900
|
|
NM_152419.3(HGSNAT):c.1172C>T (p.Pro391Leu)
|
rs1804527192
|
|
NM_152419.3(HGSNAT):c.1255T>C (p.Tyr419His)
|
rs1220333666
|
|
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)
|
rs1064795522
|
|
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=)
|
rs2130807297
|
|
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)
|
rs747616932
|
|
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys)
|
rs777276988
|
|
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter)
|
rs1804568176
|
|
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)
|
|
|
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)
|
rs763301637
|
|
NM_152419.3(HGSNAT):c.1358_1361del (p.Tyr453fs)
|
|
|
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter)
|
rs1057518644
|
|
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)
|
rs753355844
|
|
NM_152419.3(HGSNAT):c.1411G>T (p.Glu471Ter)
|
rs753355844
|
|
NM_152419.3(HGSNAT):c.1457G>T (p.Gly486Val)
|
rs1804622640
|
|
NM_152419.3(HGSNAT):c.1465-10T>C
|
rs1804745819
|
|
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu)
|
rs1554537586
|
|
NM_152419.3(HGSNAT):c.1517G>A (p.Arg506Gln)
|
|
|
NM_152419.3(HGSNAT):c.1517_1523del (p.Arg506fs)
|
|
|
NM_152419.3(HGSNAT):c.1542+1G>A
|
rs1554537612
|
|
NM_152419.3(HGSNAT):c.1542+1G>C
|
rs1554537612
|
|
NM_152419.3(HGSNAT):c.1542+2T>G
|
rs1554537613
|
|
NM_152419.3(HGSNAT):c.1542+4dup
|
rs1401818080
|
|
NM_152419.3(HGSNAT):c.1567A>T (p.Lys523Ter)
|
rs73569592
|
|
NM_152419.3(HGSNAT):c.1575_1576del (p.Glu526fs)
|
|
|
NM_152419.3(HGSNAT):c.157C>T (p.Gln53Ter)
|
rs1802738210
|
|
NM_152419.3(HGSNAT):c.1614-2A>T
|
rs1554537807
|
|
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter)
|
rs1554537841
|
|
NM_152419.3(HGSNAT):c.1721A>G (p.Tyr574Cys)
|
rs1177263214
|
|
NM_152419.3(HGSNAT):c.1723C>T (p.Pro575Ser)
|
rs754143732
|
|
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs)
|
rs1298170960
|
|
NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro)
|
rs928930218
|
|
NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val)
|
rs1266245327
|
|
NM_152419.3(HGSNAT):c.1856G>C (p.Trp619Ser)
|
rs1563388121
|
|
NM_152419.3(HGSNAT):c.1857G>A (p.Trp619Ter)
|
rs1554538302
|
|
NM_152419.3(HGSNAT):c.1858G>A (p.Val620Met)
|
rs1413168448
|
|
NM_152419.3(HGSNAT):c.1863del (p.Ile622fs)
|
rs1554538306
|
|
NM_152419.3(HGSNAT):c.1886A>G (p.Lys629Arg)
|
rs1804852352
|
|
NM_152419.3(HGSNAT):c.199_200insCAT (p.Asn66_Leu67insSer)
|
rs1409093216
|
|
NM_152419.3(HGSNAT):c.204C>A (p.Thr68=)
|
rs199816365
|
|
NM_152419.3(HGSNAT):c.220G>T (p.Glu74Ter)
|
rs1802741140
|
|
NM_152419.3(HGSNAT):c.235-9T>G
|
rs913764481
|
|
NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter)
|
rs1803166332
|
|
NM_152419.3(HGSNAT):c.268A>G (p.Ser90Gly)
|
rs764229375
|
|
NM_152419.3(HGSNAT):c.283A>T (p.Lys95Ter)
|
rs1803167331
|
|
NM_152419.3(HGSNAT):c.284A>C (p.Lys95Thr)
|
rs374071098
|
|
NM_152419.3(HGSNAT):c.284A>G (p.Lys95Arg)
|
rs374071098
|
|
NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter)
|
rs1803181154
|
|
NM_152419.3(HGSNAT):c.429_432delinsA (p.His143_Asn144delinsGln)
|
rs1554529803
|
|
NM_152419.3(HGSNAT):c.433G>T (p.Gly145Ter)
|
rs1803182974
|
|
NM_152419.3(HGSNAT):c.469G>A (p.Glu157Lys)
|
rs553837106
|
|
NM_152419.3(HGSNAT):c.469G>T (p.Glu157Ter)
|
rs553837106
|
|
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp)
|
rs370717845
|
|
NM_152419.3(HGSNAT):c.525dup (p.Val176fs)
|
rs483352895
|
|
NM_152419.3(HGSNAT):c.540A>G (p.Ile180Met)
|
rs1195940980
|
|
NM_152419.3(HGSNAT):c.567_568delinsT (p.Leu189fs)
|
|
|
NM_152419.3(HGSNAT):c.671_673dup (p.Gly224dup)
|
rs1554531686
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)
|
rs727503962
|
|
NM_152419.3(HGSNAT):c.716_720del (p.Arg239fs)
|
|
|
NM_152419.3(HGSNAT):c.728dup (p.Asp244fs)
|
|
|
NM_152419.3(HGSNAT):c.739del (p.Arg247fs)
|
rs1085307880
|
|
NM_152419.3(HGSNAT):c.742G>A (p.Gly248Arg)
|
|
|
NM_152419.3(HGSNAT):c.743+1del
|
rs1554531744
|
|
NM_152419.3(HGSNAT):c.744-2A>G
|
rs762402992
|
|
NM_152419.3(HGSNAT):c.784G>T (p.Gly262Ter)
|
rs1803654249
|
|
NM_152419.3(HGSNAT):c.819T>G (p.Asn273Lys)
|
rs1554532014
|
|
NM_152419.3(HGSNAT):c.836A>C (p.Asp279Ala)
|
rs1085307112
|
|
NM_152419.3(HGSNAT):c.851+10C>T
|
rs778394235
|
|
NM_152419.3(HGSNAT):c.851+1G>A
|
rs1554532283
|
|
NM_152419.3(HGSNAT):c.851+1G>T
|
rs1554532283
|
|
NM_152419.3(HGSNAT):c.852-1G>A
|
rs1447092074
|
|
NM_152419.3(HGSNAT):c.906A>T (p.Gln302His)
|
rs886062954
|
|
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter)
|
rs1803878901
|
|
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)
|
rs1554533211
|
|
NM_152419.3(HGSNAT):c.962T>G (p.Leu321Ter)
|
rs121908283
|
|
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del)
|
rs752374933
|
|