|
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala)
|
rs1050228
|
0.44445
|
|
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg)
|
rs1050239
|
0.19762
|
|
NM_000543.5(SMPD1):c.*45G>A
|
rs8164
|
0.17086
|
|
NM_000543.5(SMPD1):c.636T>C (p.Asp212=)
|
rs7951904
|
0.15081
|
|
NM_000543.5(SMPD1):c.1487-36C>T
|
rs11601088
|
0.10436
|
|
NM_000543.5(SMPD1):c.714A>G (p.Ala238=)
|
rs2682091
|
0.03664
|
|
NM_000543.5(SMPD1):c.*74A>C
|
rs1803160
|
0.02334
|
|
NM_000543.5(SMPD1):c.106_107insCGC (p.Val36delinsAlaLeu)
|
rs767539123
|
0.01904
|
|
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=)
|
rs35098198
|
0.01843
|
|
NM_000543.5(SMPD1):c.*91C>T
|
rs12273714
|
0.01778
|
|
NM_000543.5(SMPD1):c.807C>T (p.Ala269=)
|
rs35933246
|
0.01598
|
|
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser)
|
rs74053349
|
0.01580
|
|
NM_000543.5(SMPD1):c.-45G>C
|
rs79282481
|
0.01446
|
|
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met)
|
rs35785620
|
0.01390
|
|
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)
|
rs35824453
|
0.01388
|
|
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln)
|
rs2634197
|
0.00668
|
|
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln)
|
rs113467489
|
0.00629
|
|
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)
|
rs72896268
|
0.00571
|
|
NM_000543.5(SMPD1):c.813T>C (p.Pro271=)
|
rs61876771
|
0.00500
|
|
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)
|
rs2723669
|
0.00374
|
|
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)
|
rs142178073
|
0.00371
|
|
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)
|
rs147258619
|
0.00349
|
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
|
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
|
rs141641266
|
0.00282
|
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
|
NM_000543.5(SMPD1):c.1534G>A (p.Val512Met)
|
rs140806787
|
0.00192
|
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
|
NM_000543.5(SMPD1):c.1340+7C>T
|
rs116480929
|
0.00144
|
|
NM_000543.5(SMPD1):c.*83A>G
|
rs138499616
|
0.00115
|
|
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)
|
rs144873307
|
0.00111
|
|
NM_000543.5(SMPD1):c.762G>A (p.Leu254=)
|
rs143939609
|
0.00104
|
|
NM_000543.5(SMPD1):c.1091+9C>T
|
rs143612450
|
0.00103
|
|
NM_000543.5(SMPD1):c.*272G>C
|
rs528743699
|
0.00102
|
|
NM_000543.5(SMPD1):c.297C>G (p.Thr99=)
|
rs146630228
|
0.00072
|
|
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
|
rs141387770
|
0.00071
|
|
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu)
|
rs199915216
|
0.00070
|
|
NM_000543.5(SMPD1):c.1340+12A>T
|
rs140221837
|
0.00069
|
|
NM_000543.5(SMPD1):c.8G>A (p.Arg3His)
|
rs199836262
|
0.00063
|
|
NM_000543.5(SMPD1):c.340G>A (p.Val114Met)
|
rs142215226
|
0.00061
|
|
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile)
|
rs149939736
|
0.00051
|
|
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser)
|
rs202244080
|
0.00014
|
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
0.00011
|
|
NM_000543.5(SMPD1):c.534C>T (p.Ile178=)
|
rs142147633
|
0.00011
|
|
NM_000543.5(SMPD1):c.729C>T (p.Ala243=)
|
rs149476159
|
0.00011
|
|
NM_000543.5(SMPD1):c.909A>G (p.Ala303=)
|
rs201134693
|
0.00011
|
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
|
NM_000543.5(SMPD1):c.1081C>T (p.Arg361Cys)
|
rs370198638
|
0.00009
|
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00006
|
|
NM_000543.5(SMPD1):c.1335A>G (p.Val445=)
|
rs769400504
|
0.00006
|
|
NM_000543.5(SMPD1):c.1497G>A (p.Val499=)
|
rs749498245
|
0.00006
|
|
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=)
|
rs201659696
|
0.00006
|
|
NM_000543.5(SMPD1):c.1764G>A (p.Thr588=)
|
rs774989668
|
0.00005
|
|
NM_000543.5(SMPD1):c.1082G>A (p.Arg361His)
|
rs148892841
|
0.00004
|
|
NM_000543.5(SMPD1):c.1166G>A (p.Arg389His)
|
rs750345585
|
0.00004
|
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00004
|
|
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)
|
rs552841217
|
0.00004
|
|
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys)
|
rs375570126
|
0.00004
|
|
NM_000543.5(SMPD1):c.472G>A (p.Ala158Thr)
|
rs369566518
|
0.00004
|
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
0.00004
|
|
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)
|
rs749780769
|
0.00004
|
|
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
|
NM_000543.5(SMPD1):c.605G>A (p.Arg202His)
|
rs757850587
|
0.00004
|
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
|
NM_000543.5(SMPD1):c.1010A>G (p.Asn337Ser)
|
rs761144309
|
0.00003
|
|
NM_000543.5(SMPD1):c.1431G>A (p.Pro477=)
|
rs138588535
|
0.00003
|
|
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His)
|
rs771336819
|
0.00003
|
|
NM_000543.5(SMPD1):c.558G>A (p.Pro186=)
|
rs1464825418
|
0.00003
|
|
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)
|
rs120074122
|
0.00003
|
|
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)
|
rs587779408
|
0.00003
|
|
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)
|
rs1228068212
|
0.00003
|
|
NM_000543.5(SMPD1):c.991C>T (p.Pro331Ser)
|
rs142476839
|
0.00003
|
|
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter)
|
rs201550531
|
0.00002
|
|
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)
|
rs372287825
|
0.00002
|
|
NM_000543.5(SMPD1):c.1340+8G>A
|
rs373742012
|
0.00002
|
|
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)
|
rs753508874
|
0.00002
|
|
NM_000543.5(SMPD1):c.1477C>T (p.Leu493Phe)
|
rs1345053174
|
0.00002
|
|
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)
|
rs769904764
|
0.00002
|
|
NM_000543.5(SMPD1):c.234C>T (p.Pro78=)
|
rs575601110
|
0.00002
|
|
NM_000543.5(SMPD1):c.329A>G (p.Asn110Ser)
|
rs747223735
|
0.00002
|
|
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
|
NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr)
|
rs752148586
|
0.00002
|
|
NM_000543.5(SMPD1):c.*183T>G
|
rs886048448
|
0.00001
|
|
NM_000543.5(SMPD1):c.-39A>T
|
rs767402489
|
0.00001
|
|
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu)
|
rs772473982
|
0.00001
|
|
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)
|
rs776442314
|
0.00001
|
|
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter)
|
rs755160837
|
0.00001
|
|
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)
|
rs120074126
|
0.00001
|
|
NM_000543.5(SMPD1):c.126G>A (p.Ala42=)
|
rs571806745
|
0.00001
|
|
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)
|
rs794727629
|
0.00001
|
|
NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg)
|
rs779528546
|
0.00001
|
|
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp)
|
rs398123475
|
0.00001
|
|
NM_000543.5(SMPD1):c.1341-1G>A
|
rs1057516854
|
0.00001
|
|
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys)
|
rs747143343
|
0.00001
|
|
NM_000543.5(SMPD1):c.1360G>A (p.Ala454Thr)
|
rs144624998
|
0.00001
|
|
NM_000543.5(SMPD1):c.1361C>T (p.Ala454Val)
|
rs1402734026
|
0.00001
|
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
|
NM_000543.5(SMPD1):c.1473C>T (p.Ile491=)
|
rs554647710
|
0.00001
|
|
NM_000543.5(SMPD1):c.1486G>A (p.Gly496Ser)
|
rs1554935371
|
0.00001
|
|
NM_000543.5(SMPD1):c.1517A>G (p.Tyr506Cys)
|
rs774651673
|
0.00001
|
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
|
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)
|
rs748589919
|
0.00001
|
|
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr)
|
rs758811926
|
0.00001
|
|
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs)
|
rs759389193
|
0.00001
|
|
NM_000543.5(SMPD1):c.1698G>T (p.Met566Ile)
|
rs757364674
|
0.00001
|
|
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)
|
rs1554935669
|
0.00001
|
|
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser)
|
rs120074119
|
0.00001
|
|
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr)
|
rs750433951
|
0.00001
|
|
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys)
|
rs763099671
|
0.00001
|
|
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)
|
rs370129081
|
0.00001
|
|
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)
|
rs868423827
|
0.00001
|
|
NM_000543.5(SMPD1):c.291A>G (p.Leu97=)
|
rs144428799
|
0.00001
|
|
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser)
|
rs373475928
|
0.00001
|
|
NM_000543.5(SMPD1):c.319-1G>A
|
rs1352986086
|
0.00001
|
|
NM_000543.5(SMPD1):c.390T>G (p.Pro130=)
|
rs371141815
|
0.00001
|
|
NM_000543.5(SMPD1):c.502G>A (p.Gly168Arg)
|
rs1847910654
|
0.00001
|
|
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter)
|
rs1554934212
|
0.00001
|
|
NM_000543.5(SMPD1):c.573del (p.Ser192fs)
|
rs727504167
|
0.00001
|
|
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro)
|
rs764317969
|
0.00001
|
|
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)
|
rs989639224
|
0.00001
|
|
NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr)
|
rs748936934
|
0.00001
|
|
NM_000543.5(SMPD1):c.742G>A (p.Glu248Lys)
|
rs200763423
|
0.00001
|
|
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)
|
rs750779804
|
0.00001
|
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
|
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)
|
rs120074128
|
0.00001
|
|
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp)
|
rs779927660
|
0.00001
|
|
NM_000543.5(SMPD1):c.986T>G (p.Phe329Cys)
|
rs886048446
|
0.00001
|
|
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del)
|
rs3838786
|
|
|
NM_000543.4:c.777_778ins8
|
|
|
|
NM_000543.5(SMPD1):c.*294G>C
|
rs12278115
|
|
|
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His)
|
rs200242334
|
|
|
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter)
|
rs1470998208
|
|
|
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys)
|
rs281860668
|
|
|
NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu)
|
rs1554933800
|
|
|
NM_000543.5(SMPD1):c.106dup (p.Val36fs)
|
rs1590735238
|
|
|
NM_000543.5(SMPD1):c.1071_1081del (p.Glu358fs)
|
rs2134013240
|
|
|
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)
|
rs775860642
|
|
|
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs)
|
rs1590735307
|
|
|
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del)
|
rs550365194
|
|
|
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del)
|
rs794726889
|
|
|
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg)
|
rs2134013368
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
|
NM_000543.5(SMPD1):c.108_109insGCG (p.Val36_Leu37insAla)
|
rs775568984
|
|
|
NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla)
|
rs775568984
|
|
|
NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla)
|
rs775568984
|
|
|
NM_000543.5(SMPD1):c.1091G>A (p.Arg364Lys)
|
|
|
|
NM_000543.5(SMPD1):c.1092-1G>C
|
rs398123474
|
|
|
NM_000543.5(SMPD1):c.10_11insTTGTGATGCT (p.Tyr4fs)
|
|
|
|
NM_000543.5(SMPD1):c.1101del (p.Phe368fs)
|
rs1422720020
|
|
|
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs)
|
rs1422720020
|
|
|
NM_000543.5(SMPD1):c.1103del (p.Phe368fs)
|
|
|
|
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs)
|
rs786204514
|
|
|
NM_000543.5(SMPD1):c.1112T>C (p.Leu371Pro)
|
rs2134017039
|
|
|
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser)
|
rs1342372980
|
|
|
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe)
|
rs281860666
|
|
|
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs)
|
rs1057516432
|
|
|
NM_000543.5(SMPD1):c.114del (p.Leu39fs)
|
rs886043098
|
|
|
NM_000543.5(SMPD1):c.1151del (p.Met384fs)
|
rs2134017306
|
|
|
NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile)
|
rs120074121
|
|
|
NM_000543.5(SMPD1):c.1171A>C (p.Asn391His)
|
rs2134017443
|
|
|
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)
|
rs120074125
|
|
|
NM_000543.5(SMPD1):c.118G>C (p.Ala40Pro)
|
rs1299899778
|
|
|
NM_000543.5(SMPD1):c.122_128del (p.Leu41fs)
|
|
|
|
NM_000543.5(SMPD1):c.1244C>T (p.Ala415Val)
|
|
|
|
NM_000543.5(SMPD1):c.1263+1G>A
|
rs2134018090
|
|
|
NM_000543.5(SMPD1):c.1264-1G>C
|
rs1057516454
|
|
|
NM_000543.5(SMPD1):c.1264-1G>T
|
rs1057516454
|
|
|
NM_000543.5(SMPD1):c.1264-2A>G
|
rs774309925
|
|
|
NM_000543.5(SMPD1):c.126_149del (p.Leu43_Ser50del)
|
rs1554933847
|
|
|
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser)
|
rs1554935136
|
|
|
NM_000543.5(SMPD1):c.1280_1286del (p.His427fs)
|
|
|
|
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu)
|
rs281860669
|
|
|
NM_000543.5(SMPD1):c.1299_1302del (p.His432_Cys433insTer)
|
rs1057517390
|
|
|
NM_000543.5(SMPD1):c.130_147dup (p.38_39AL[9])
|
rs1554933850
|
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
|
NM_000543.5(SMPD1):c.1340+2T>C
|
|
|
|
NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys)
|
rs2134019797
|
|
|
NM_000543.5(SMPD1):c.1341-10_1429dup
|
rs1554935254
|
|
|
NM_000543.5(SMPD1):c.1341-1G>T
|
rs1057516854
|
|
|
NM_000543.5(SMPD1):c.1341-21_1341-18del
|
|
|
|
NM_000543.5(SMPD1):c.1373del (p.Gly458fs)
|
rs1554935273
|
|
|
NM_000543.5(SMPD1):c.1379del (p.Thr460fs)
|
rs1554935285
|
|
|
NM_000543.5(SMPD1):c.1380del (p.His461fs)
|
rs1848061158
|
|
|
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs)
|
rs748411156
|
|
|
NM_000543.5(SMPD1):c.1390G>T (p.Glu464Ter)
|
|
|
|
NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser)
|
rs1319643225
|
|
|
NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser)
|
rs267607074
|
|
|
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs)
|
rs398123476
|
|
|
NM_000543.5(SMPD1):c.1429C>A (p.Pro477Thr)
|
rs2134021440
|
|
|
NM_000543.5(SMPD1):c.1431del (p.Leu478fs)
|
|
|
|
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)
|
rs267607075
|
|
|
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)
|
rs281860665
|
|
|
NM_000543.5(SMPD1):c.145_150del (p.Leu49_Ser50del)
|
rs1382534368
|
|
|
NM_000543.5(SMPD1):c.1481A>T (p.Asn494Ile)
|
|
|
|
NM_000543.5(SMPD1):c.1482T>A (p.Asn494Lys)
|
|
|
|
NM_000543.5(SMPD1):c.1486+6_1486+9del
|
rs1389809925
|
|
|
NM_000543.5(SMPD1):c.1487-1G>A
|
rs2134022652
|
|
|
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)
|
rs281860676
|
|
|
NM_000543.5(SMPD1):c.1491C>G (p.Tyr497Ter)
|
rs1554935439
|
|
|
NM_000543.5(SMPD1):c.1491_1503del (p.Gly496_Tyr497insTer)
|
rs875989834
|
|
|
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)
|
rs120074117
|
|
|
NM_000543.5(SMPD1):c.1497_1498del (p.Tyr500fs)
|
rs1057517200
|
|
|
NM_000543.5(SMPD1):c.1498T>A (p.Tyr500Asn)
|
rs771336819
|
|
|
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter)
|
rs943924098
|
|
|
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)
|
rs1057516949
|
|
|
NM_000543.5(SMPD1):c.1543del (p.Asp515fs)
|
|
|
|
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln)
|
rs1590747902
|
|
|
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys)
|
rs371837210
|
|
|
NM_000543.5(SMPD1):c.1562T>G (p.Leu521Arg)
|
rs1057517826
|
|
|
NM_000543.5(SMPD1):c.1565A>G (p.Asn522Ser)
|
|
|
|
NM_000543.5(SMPD1):c.156_157del (p.Arg53fs)
|
|
|
|
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln)
|
rs199915216
|
|
|
NM_000543.5(SMPD1):c.1603T>C (p.Trp535Arg)
|
rs1554935555
|
|
|
NM_000543.5(SMPD1):c.1605G>A (p.Trp535Ter)
|
|
|
|
NM_000543.5(SMPD1):c.1608G>A (p.Gln536=)
|
rs886048447
|
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
|
NM_000543.5(SMPD1):c.1627G>T (p.Glu543Ter)
|
rs756031857
|
|
|
NM_000543.5(SMPD1):c.1630del (p.Thr544fs)
|
rs770962157
|
|
|
NM_000543.5(SMPD1):c.1638del (p.Leu547fs)
|
rs2134023610
|
|
|
NM_000543.5(SMPD1):c.1644delinsAA (p.Asn549fs)
|
rs1554935600
|
|
|
NM_000543.5(SMPD1):c.1665G>A (p.Trp555Ter)
|
rs1554935610
|
|
|
NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro)
|
rs875989836
|
|
|
NM_000543.5(SMPD1):c.1675G>C (p.Val559Leu)
|
rs149939736
|
|
|
NM_000543.5(SMPD1):c.1676T>A (p.Val559Glu)
|
|
|
|
NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter)
|
rs2134006149
|
|
|
NM_000543.5(SMPD1):c.168G>A (p.Trp56Ter)
|
rs1057516722
|
|
|
NM_000543.5(SMPD1):c.1693G>T (p.Asp565Tyr)
|
|
|
|
NM_000543.5(SMPD1):c.1699C>T (p.Gln567Ter)
|
rs943865463
|
|
|
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser)
|
rs2134024060
|
|
|
NM_000543.5(SMPD1):c.1719G>A (p.Trp573Ter)
|
|
|
|
NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn)
|
rs747342458
|
|
|
NM_000543.5(SMPD1):c.1748C>A (p.Ser583Ter)
|
rs373940701
|
|
|
NM_000543.5(SMPD1):c.175del (p.Ala59fs)
|
rs2134006179
|
|
|
NM_000543.5(SMPD1):c.1771del (p.Arg591fs)
|
|
|
|
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs)
|
rs1437508852
|
|
|
NM_000543.5(SMPD1):c.1785_1786del (p.Ala597fs)
|
rs1057516403
|
|
|
NM_000543.5(SMPD1):c.1788T>A (p.Cys596Ter)
|
|
|
|
NM_000543.5(SMPD1):c.1793A>G (p.Gln598Arg)
|
rs1554935731
|
|
|
NM_000543.5(SMPD1):c.1795C>T (p.Leu599Phe)
|
rs138531908
|
|
|
NM_000543.5(SMPD1):c.1810G>A (p.Asp604Asn)
|
rs2134024509
|
|
|
NM_000543.5(SMPD1):c.1817del (p.Pro606fs)
|
rs1554935746
|
|
|
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)
|
rs120074118
|
|
|
NM_000543.5(SMPD1):c.1829G>T (p.Arg610Leu)
|
rs140269316
|
|
|
NM_000543.5(SMPD1):c.193del (p.Ser65fs)
|
rs1057517098
|
|
|
NM_000543.5(SMPD1):c.199C>T (p.Gln67Ter)
|
rs1057516931
|
|
|
NM_000543.5(SMPD1):c.19_26dup (p.Gln10fs)
|
|
|
|
NM_000543.5(SMPD1):c.257G>A (p.Trp86Ter)
|
rs2134006592
|
|
|
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)
|
rs1205990349
|
|
|
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)
|
rs751269562
|
|
|
NM_000543.5(SMPD1):c.318+2T>A
|
rs1225462507
|
|
|
NM_000543.5(SMPD1):c.318+2T>C
|
rs1225462507
|
|
|
NM_000543.5(SMPD1):c.319-2A>G
|
|
|
|
NM_000543.5(SMPD1):c.338G>T (p.Arg113Leu)
|
|
|
|
NM_000543.5(SMPD1):c.348C>T (p.Ser116=)
|
rs767122852
|
|
|
NM_000543.5(SMPD1):c.354del (p.Ile119fs)
|
rs727504165
|
|
|
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro)
|
rs1554934109
|
|
|
NM_000543.5(SMPD1):c.390_411del (p.Ala131fs)
|
|
|
|
NM_000543.5(SMPD1):c.394G>A (p.Val132Met)
|
rs189859589
|
|
|
NM_000543.5(SMPD1):c.39del (p.Arg14fs)
|
rs2134004594
|
|
|
NM_000543.5(SMPD1):c.419_420del (p.Leu139_Phe140insTer)
|
rs1057517086
|
|
|
NM_000543.5(SMPD1):c.436del (p.Glu146fs)
|
|
|
|
NM_000543.5(SMPD1):c.442_446del (p.Trp148fs)
|
|
|
|
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)
|
rs780134410
|
|
|
NM_000543.5(SMPD1):c.504dup (p.His169fs)
|
rs2134009550
|
|
|
NM_000543.5(SMPD1):c.505dup (p.His169fs)
|
rs781535659
|
|
|
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter)
|
rs1554934193
|
|
|
NM_000543.5(SMPD1):c.518dup (p.Ser174fs)
|
rs786204733
|
|
|
NM_000543.5(SMPD1):c.521_522insT (p.Ser175fs)
|
rs875989833
|
|
|
NM_000543.5(SMPD1):c.528del (p.Ser175_Trp176insTer)
|
rs1554934210
|
|
|
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter)
|
rs1428487333
|
|
|
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)
|
rs786204694
|
|
|
NM_000543.5(SMPD1):c.564del (p.Lys189fs)
|
rs756366019
|
|
|
NM_000543.5(SMPD1):c.565_566insC (p.Lys189fs)
|
rs875989835
|
|
|
NM_000543.5(SMPD1):c.56del (p.Gln19fs)
|
rs1554933746
|
|
|
NM_000543.5(SMPD1):c.581del (p.Pro194fs)
|
rs748165078
|
|
|
NM_000543.5(SMPD1):c.581dup (p.Ala195fs)
|
rs748165078
|
|
|
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)
|
rs797044798
|
|
|
NM_000543.5(SMPD1):c.596_597del (p.Pro199fs)
|
|
|
|
NM_000543.5(SMPD1):c.597del (p.Val200fs)
|
|
|
|
NM_000543.5(SMPD1):c.610C>T (p.Leu204Phe)
|
rs1690892137
|
|
|
NM_000543.5(SMPD1):c.614_647del (p.Phe205fs)
|
rs1554934309
|
|
|
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)
|
rs1554933751
|
|
|
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg)
|
|
|
|
NM_000543.5(SMPD1):c.647T>G (p.Leu216Arg)
|
rs1590738910
|
|
|
NM_000543.5(SMPD1):c.66C>T (p.Asp22=)
|
rs886048444
|
|
|
NM_000543.5(SMPD1):c.679C>G (p.Leu227Val)
|
|
|
|
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg)
|
rs1564923612
|
|
|
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter)
|
rs120074122
|
|
|
NM_000543.5(SMPD1):c.734A>C (p.Tyr245Ser)
|
rs1847928024
|
|
|
NM_000543.5(SMPD1):c.734_739del (p.Tyr245_Gly247delinsCys)
|
|
|
|
NM_000543.5(SMPD1):c.735C>G (p.Tyr245Ter)
|
|
|
|
NM_000543.5(SMPD1):c.740G>A (p.Gly247Asp)
|
rs1590739350
|
|
|
NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter)
|
rs200763423
|
|
|
NM_000543.5(SMPD1):c.750C>A (p.Ser250Arg)
|
rs1423504237
|
|
|
NM_000543.5(SMPD1):c.766dup (p.Leu256fs)
|
rs1018556947
|
|
|
NM_000543.5(SMPD1):c.778G>T (p.Glu260Ter)
|
rs1554934406
|
|
|
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)
|
rs794727252
|
|
|
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter)
|
rs120074120
|
|
|
NM_000543.5(SMPD1):c.795del (p.Leu266fs)
|
rs875989832
|
|
|
NM_000543.5(SMPD1):c.7del (p.Arg3fs)
|
rs281860663
|
|
|
NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala)
|
rs1847935299
|
|
|
NM_000543.5(SMPD1):c.842_849dup (p.His284fs)
|
rs281860677
|
|
|
NM_000543.5(SMPD1):c.84del (p.Gly29fs)
|
rs750157176
|
|
|
NM_000543.5(SMPD1):c.858C>A (p.Val286=)
|
rs1194457629
|
|
|
NM_000543.5(SMPD1):c.867del (p.Thr290fs)
|
|
|
|
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)
|
rs1803161
|
|
|
NM_000543.5(SMPD1):c.874C>T (p.Gln292Ter)
|
|
|
|
NM_000543.5(SMPD1):c.879C>T (p.Asp293=)
|
rs886048445
|
|
|
NM_000543.5(SMPD1):c.894_902del (p.Thr300_Thr302del)
|
rs1554934457
|
|
|
NM_000543.5(SMPD1):c.895ACC[3] (p.Thr300dup)
|
rs1554934463
|
|
|
NM_000543.5(SMPD1):c.933_936delinsGAC (p.Val312fs)
|
rs2134012543
|
|
|
NM_000543.5(SMPD1):c.938_939delinsTGGTGGGCCAGCATGGT (p.Pro313delinsLeuValGlyGlnHisGly)
|
rs2134012580
|
|
|
NM_000543.5(SMPD1):c.945C>A (p.Tyr315Ter)
|
|
|
|
NM_000543.5(SMPD1):c.950del (p.Ala317fs)
|
|
|
|
NM_000543.5(SMPD1):c.952G>A (p.Val318Met)
|
rs875989837
|
|
|
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)
|
rs757934797
|
|
|
NM_000543.5(SMPD1):c.95G>A (p.Trp32Ter)
|
rs1554933780
|
|
|
NM_000543.5(SMPD1):c.963del (p.His321fs)
|
|
|
|
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)
|
rs786204506
|
|
|
NM_000543.5(SMPD1):c.994_995delinsG (p.Pro332fs)
|
rs1057517345
|
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
|
NM_000543.5(SMPD1):c.996del (p.Phe333fs)
|
rs387906289
|
|