NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
|
rs141387770
|
0.00071
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His)
|
rs559088058
|
0.00006
|
NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu)
|
rs760203204
|
0.00006
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00004
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
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.1498T>C (p.Tyr500His)
|
rs771336819
|
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.1054G>T (p.Glu352Ter)
|
rs201550531
|
0.00002
|
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)
|
rs372287825
|
0.00002
|
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)
|
rs753508874
|
0.00002
|
NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)
|
rs769904764
|
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.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.1280A>G (p.His427Arg)
|
rs794727629
|
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.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs)
|
rs759389193
|
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.1805G>A (p.Arg602His)
|
rs370129081
|
0.00001
|
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)
|
rs868423827
|
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.742G>A (p.Glu248Lys)
|
rs200763423
|
0.00001
|
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)
|
rs750779804
|
0.00001
|
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)
|
rs120074128
|
0.00001
|
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala)
|
rs761308217
|
0.00001
|
NC_000011.10:g.6390221_6390884del
|
|
|
NC_000011.9:g.(?_6404342)_(6413015_?)del
|
|
|
NM_000543.5(SMPD1):c.1011_1012del (p.Asn337fs)
|
|
|
NM_000543.5(SMPD1):c.1025G>A (p.Trp342Ter)
|
rs1470998208
|
|
NM_000543.5(SMPD1):c.1032T>G (p.Tyr344Ter)
|
rs2134013121
|
|
NM_000543.5(SMPD1):c.103_107del (p.Leu35fs)
|
|
|
NM_000543.5(SMPD1):c.1054del (p.Glu352fs)
|
rs1847952502
|
|
NM_000543.5(SMPD1):c.106dup (p.Val36fs)
|
rs1590735238
|
|
NM_000543.5(SMPD1):c.1071_1081del (p.Glu358fs)
|
rs2134013240
|
|
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp)
|
rs797044800
|
|
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs)
|
rs1590735307
|
|
NM_000543.5(SMPD1):c.1088T>G (p.Leu363Arg)
|
rs2134013368
|
|
NM_000543.5(SMPD1):c.1091+1G>A
|
rs1847955457
|
|
NM_000543.5(SMPD1):c.1092-1G>C
|
rs398123474
|
|
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.1108dup (p.Ala370fs)
|
rs1590743683
|
|
NM_000543.5(SMPD1):c.110_116del (p.Leu37fs)
|
rs1847863441
|
|
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs)
|
rs786204514
|
|
NM_000543.5(SMPD1):c.1117C>T (p.Pro373Ser)
|
rs1342372980
|
|
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
|
|
|
NM_000543.5(SMPD1):c.1122C>G (p.Tyr374Ter)
|
rs1848015403
|
|
NM_000543.5(SMPD1):c.1141T>C (p.Ser381Pro)
|
|
|
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs)
|
rs1057516432
|
|
NM_000543.5(SMPD1):c.1151del (p.Met384fs)
|
rs2134017306
|
|
NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile)
|
rs120074121
|
|
NM_000543.5(SMPD1):c.1168G>T (p.Glu390Ter)
|
|
|
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.1179G>A (p.Trp393Ter)
|
|
|
NM_000543.5(SMPD1):c.1216C>T (p.Gln406Ter)
|
rs2134017711
|
|
NM_000543.5(SMPD1):c.1221G>A (p.Trp407Ter)
|
|
|
NM_000543.5(SMPD1):c.1222_1225dup (p.Val409fs)
|
|
|
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)
|
|
|
NM_000543.5(SMPD1):c.1271_1272del (p.Ile424fs)
|
|
|
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser)
|
rs1554935136
|
|
NM_000543.5(SMPD1):c.1296_1297del (p.His432fs)
|
rs1848042860
|
|
NM_000543.5(SMPD1):c.1304dup (p.Ser436fs)
|
|
|
NM_000543.5(SMPD1):c.1311G>A (p.Trp437Ter)
|
rs1848043657
|
|
NM_000543.5(SMPD1):c.1312dup (p.Ser438fs)
|
|
|
NM_000543.5(SMPD1):c.1316G>A (p.Trp439Ter)
|
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
NM_000543.5(SMPD1):c.1331T>A (p.Ile444Asn)
|
|
|
NM_000543.5(SMPD1):c.1345_1348dup (p.Asn450fs)
|
|
|
NM_000543.5(SMPD1):c.1354dup (p.Leu452fs)
|
|
|
NM_000543.5(SMPD1):c.1363C>T (p.Gln455Ter)
|
rs2134021058
|
|
NM_000543.5(SMPD1):c.1380del (p.His461fs)
|
rs1848061158
|
|
NM_000543.5(SMPD1):c.1382_1383del (p.His461fs)
|
rs748411156
|
|
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.1451C>A (p.Ala484Glu)
|
rs267607075
|
|
NM_000543.5(SMPD1):c.1451C>T (p.Ala484Val)
|
|
|
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)
|
rs281860665
|
|
NM_000543.5(SMPD1):c.1486+1G>T
|
|
|
NM_000543.5(SMPD1):c.1487-4_1499del
|
|
|
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)
|
rs281860676
|
|
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_1498inv (p.Tyr500His)
|
|
|
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.1547A>G (p.His516Arg)
|
rs754979734
|
|
NM_000543.5(SMPD1):c.1557C>A (p.Tyr519Ter)
|
|
|
NM_000543.5(SMPD1):c.1565A>G (p.Asn522Ser)
|
|
|
NM_000543.5(SMPD1):c.156dup (p.Arg53fs)
|
|
|
NM_000543.5(SMPD1):c.1576del (p.Ala526fs)
|
rs2134023240
|
|
NM_000543.5(SMPD1):c.1583_1584del (p.Ile528fs)
|
rs1848086376
|
|
NM_000543.5(SMPD1):c.1589del (p.Gly530fs)
|
|
|
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln)
|
rs199915216
|
|
NM_000543.5(SMPD1):c.1605G>A (p.Trp535Ter)
|
|
|
NM_000543.5(SMPD1):c.1606C>T (p.Gln536Ter)
|
rs1848088118
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.1630del (p.Thr544fs)
|
rs770962157
|
|
NM_000543.5(SMPD1):c.1643_1644insA (p.Asn549fs)
|
rs2134023663
|
|
NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro)
|
rs875989836
|
|
NM_000543.5(SMPD1):c.1676T>A (p.Val559Glu)
|
|
|
NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter)
|
rs2134006149
|
|
NM_000543.5(SMPD1):c.1699C>T (p.Gln567Ter)
|
rs943865463
|
|
NM_000543.5(SMPD1):c.175del (p.Ala59fs)
|
rs2134006179
|
|
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.1792C>T (p.Gln598Ter)
|
|
|
NM_000543.5(SMPD1):c.1817del (p.Pro606fs)
|
rs1554935746
|
|
NM_000543.5(SMPD1):c.1822_1825dup (p.Cys609fs)
|
|
|
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)
|
rs120074118
|
|
NM_000543.5(SMPD1):c.193del (p.Ser65fs)
|
rs1057517098
|
|
NM_000543.5(SMPD1):c.193dup (p.Ser65fs)
|
rs1057517098
|
|
NM_000543.5(SMPD1):c.199dup (p.Gln67fs)
|
rs1847871015
|
|
NM_000543.5(SMPD1):c.203_205delinsAGGGGAGA (p.Gly68fs)
|
rs1847871996
|
|
NM_000543.5(SMPD1):c.208_227del (p.Pro70fs)
|
rs2134006350
|
|
NM_000543.5(SMPD1):c.248del (p.Val83fs)
|
|
|
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.301del (p.Ile101fs)
|
|
|
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)
|
rs751269562
|
|
NM_000543.5(SMPD1):c.354del (p.Ile119fs)
|
rs727504165
|
|
NM_000543.5(SMPD1):c.358_370dup (p.Leu124fs)
|
|
|
NM_000543.5(SMPD1):c.39del (p.Arg14fs)
|
rs2134004594
|
|
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)
|
rs797044797
|
|
NM_000543.5(SMPD1):c.43del (p.Ser15fs)
|
rs2134004628
|
|
NM_000543.5(SMPD1):c.477_483dup (p.Leu162fs)
|
rs2134009391
|
|
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)
|
rs780134410
|
|
NM_000543.5(SMPD1):c.499del (p.Cys167fs)
|
rs1847910379
|
|
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.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.564dup (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.572del (p.Pro191fs)
|
rs1590738506
|
|
NM_000543.5(SMPD1):c.572dup (p.Pro191_Ser192insTer)
|
rs1590738506
|
|
NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs)
|
rs1847857299
|
|
NM_000543.5(SMPD1):c.580_587dup (p.Gly197fs)
|
rs2134010245
|
|
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.597del (p.Val200fs)
|
|
|
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)
|
rs1554933751
|
|
NM_000543.5(SMPD1):c.625del (p.Leu209fs)
|
rs1847921591
|
|
NM_000543.5(SMPD1):c.632G>A (p.Trp211Ter)
|
rs1847921909
|
|
NM_000543.5(SMPD1):c.647T>G (p.Leu216Arg)
|
rs1590738910
|
|
NM_000543.5(SMPD1):c.669_670del (p.Ala224fs)
|
|
|
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg)
|
rs1564923612
|
|
NM_000543.5(SMPD1):c.699_717dup (p.Arg240fs)
|
rs1847925196
|
|
NM_000543.5(SMPD1):c.69del (p.Thr24fs)
|
|
|
NM_000543.5(SMPD1):c.740del (p.Gly247fs)
|
|
|
NM_000543.5(SMPD1):c.742G>C (p.Glu248Gln)
|
rs200763423
|
|
NM_000543.5(SMPD1):c.742G>T (p.Glu248Ter)
|
rs200763423
|
|
NM_000543.5(SMPD1):c.766_767del (p.Leu256fs)
|
|
|
NM_000543.5(SMPD1):c.766dup (p.Leu256fs)
|
rs1018556947
|
|
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.807del (p.Gly270fs)
|
|
|
NM_000543.5(SMPD1):c.820del (p.Met274fs)
|
rs2134011809
|
|
NM_000543.5(SMPD1):c.830G>A (p.Trp277Ter)
|
|
|
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.872G>A (p.Arg291His)
|
rs1803161
|
|
NM_000543.5(SMPD1):c.919A>T (p.Lys307Ter)
|
|
|
NM_000543.5(SMPD1):c.921del (p.Lys307fs)
|
|
|
NM_000543.5(SMPD1):c.933_936delinsGAC (p.Val312fs)
|
rs2134012543
|
|
NM_000543.5(SMPD1):c.945C>A (p.Tyr315Ter)
|
|
|
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.96G>A (p.Trp32Ter)
|
rs786204506
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000543.5(SMPD1):c.996del (p.Phe333fs)
|
rs387906289
|
|
NM_000543.5(SMPD1):c.996dup (p.Phe333fs)
|
rs387906289
|
|