NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)
|
rs35824453
|
0.01388
|
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.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
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.340G>A (p.Val114Met)
|
rs142215226
|
0.00061
|
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile)
|
rs149939736
|
0.00051
|
NM_000543.5(SMPD1):c.319-17C>A
|
rs148370501
|
0.00048
|
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys)
|
rs140202512
|
0.00034
|
NM_000543.5(SMPD1):c.1091+10G>A
|
rs148067213
|
0.00033
|
NM_000543.5(SMPD1):c.338G>A (p.Arg113His)
|
rs149770879
|
0.00029
|
NM_000543.5(SMPD1):c.657G>A (p.Thr219=)
|
rs202032347
|
0.00017
|
NM_000543.5(SMPD1):c.1021C>T (p.Arg341Cys)
|
rs369841281
|
0.00014
|
NM_000543.5(SMPD1):c.708G>A (p.Pro236=)
|
rs374604948
|
0.00014
|
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser)
|
rs202244080
|
0.00014
|
NM_000543.5(SMPD1):c.103C>G (p.Leu35Val)
|
rs201367689
|
0.00013
|
NM_000543.5(SMPD1):c.1037C>T (p.Ala346Val)
|
rs373508268
|
0.00011
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
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.1081C>T (p.Arg361Cys)
|
rs370198638
|
0.00009
|
NM_000543.5(SMPD1):c.733T>C (p.Tyr245His)
|
rs370178721
|
0.00009
|
NM_000543.5(SMPD1):c.1135C>T (p.Leu379Phe)
|
rs371738717
|
0.00008
|
NM_000543.5(SMPD1):c.1253G>A (p.Arg418Gln)
|
rs767722360
|
0.00008
|
NM_000543.5(SMPD1):c.448C>T (p.Arg150Cys)
|
rs143719170
|
0.00007
|
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.1632C>T (p.Thr544=)
|
rs201659696
|
0.00006
|
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys)
|
rs375570126
|
0.00006
|
NM_000543.5(SMPD1):c.1772G>A (p.Arg591His)
|
rs189116118
|
0.00006
|
NM_000543.5(SMPD1):c.253G>A (p.Gly85Arg)
|
rs368200803
|
0.00006
|
NM_000543.5(SMPD1):c.373C>T (p.Leu125=)
|
rs370048730
|
0.00006
|
NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu)
|
rs760203204
|
0.00006
|
NM_000543.5(SMPD1):c.1165C>T (p.Arg389Cys)
|
rs570674743
|
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.1197G>A (p.Thr399=)
|
rs755182589
|
0.00004
|
NM_000543.5(SMPD1):c.1587G>A (p.Pro529=)
|
rs140770832
|
0.00004
|
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)
|
rs552841217
|
0.00004
|
NM_000543.5(SMPD1):c.472G>A (p.Ala158Thr)
|
rs369566518
|
0.00004
|
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn)
|
rs749780769
|
0.00004
|
NM_000543.5(SMPD1):c.605G>A (p.Arg202His)
|
rs757850587
|
0.00004
|
NM_000543.5(SMPD1):c.1010A>G (p.Asn337Ser)
|
rs761144309
|
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.940G>A (p.Val314Met)
|
rs1228068212
|
0.00003
|
NM_000543.5(SMPD1):c.991C>T (p.Pro331Ser)
|
rs142476839
|
0.00003
|
NM_000543.5(SMPD1):c.102C>G (p.Gly34=)
|
rs889113421
|
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.1386G>A (p.Val462=)
|
rs763521056
|
0.00002
|
NM_000543.5(SMPD1):c.138G>T (p.Ala46=)
|
rs200763765
|
0.00002
|
NM_000543.5(SMPD1):c.1477C>T (p.Leu493Phe)
|
rs1345053174
|
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.529A>T (p.Asn177Tyr)
|
rs535997620
|
0.00002
|
NM_000543.5(SMPD1):c.*183T>G
|
rs886048448
|
0.00001
|
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu)
|
rs772473982
|
0.00001
|
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg)
|
rs1206562843
|
0.00001
|
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)
|
rs794727629
|
0.00001
|
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp)
|
rs398123475
|
0.00001
|
NM_000543.5(SMPD1):c.1337C>G (p.Ala446Gly)
|
rs559092380
|
0.00001
|
NM_000543.5(SMPD1):c.1341-9T>C
|
rs528939343
|
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.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.1620G>A (p.Arg540=)
|
rs778746534
|
0.00001
|
NM_000543.5(SMPD1):c.1637_1639dup (p.Gly546_Leu547insArg)
|
rs776759986
|
0.00001
|
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr)
|
rs758811926
|
0.00001
|
NM_000543.5(SMPD1):c.1676T>C (p.Val559Ala)
|
rs770561559
|
0.00001
|
NM_000543.5(SMPD1):c.1681C>T (p.Arg561Cys)
|
rs774190691
|
0.00001
|
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=)
|
rs369787650
|
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.1747T>G (p.Ser583Ala)
|
rs748635475
|
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.1833C>G (p.His611Gln)
|
rs1397949984
|
0.00001
|
NM_000543.5(SMPD1):c.211G>A (p.Ala71Thr)
|
rs375224040
|
0.00001
|
NM_000543.5(SMPD1):c.229G>A (p.Val77Met)
|
rs560531338
|
0.00001
|
NM_000543.5(SMPD1):c.236G>A (p.Arg79Gln)
|
rs201647015
|
0.00001
|
NM_000543.5(SMPD1):c.283A>C (p.Lys95Gln)
|
rs886044321
|
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.318+5G>A
|
rs375723261
|
0.00001
|
NM_000543.5(SMPD1):c.319-5T>C
|
rs958654789
|
0.00001
|
NM_000543.5(SMPD1):c.604C>T (p.Arg202Cys)
|
rs749595299
|
0.00001
|
NM_000543.5(SMPD1):c.656C>T (p.Thr219Met)
|
rs759439337
|
0.00001
|
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro)
|
rs764317969
|
0.00001
|
NM_000543.5(SMPD1):c.692G>A (p.Arg231Gln)
|
rs746421946
|
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.753G>A (p.Lys251=)
|
rs374458858
|
0.00001
|
NM_000543.5(SMPD1):c.820A>G (p.Met274Val)
|
rs763437061
|
0.00001
|
NM_000543.5(SMPD1):c.856G>A (p.Val286Ile)
|
rs1191633349
|
0.00001
|
NM_000543.5(SMPD1):c.886C>T (p.Arg296Trp)
|
rs541061793
|
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_000543.5(SMPD1):c.*5C>G
|
rs761741269
|
|
NM_000543.5(SMPD1):c.*8G>A
|
rs769660920
|
|
NM_000543.5(SMPD1):c.101G>A (p.Gly34Asp)
|
|
|
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His)
|
rs200242334
|
|
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys)
|
rs281860668
|
|
NM_000543.5(SMPD1):c.1044C>T (p.Ala348=)
|
rs555187617
|
|
NM_000543.5(SMPD1):c.1054G>A (p.Glu352Lys)
|
|
|
NM_000543.5(SMPD1):c.1055A>C (p.Glu352Ala)
|
rs771028947
|
|
NM_000543.5(SMPD1):c.106G>T (p.Val36Leu)
|
|
|
NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu)
|
rs1554933800
|
|
NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu)
|
rs1554933800
|
|
NM_000543.5(SMPD1):c.107CGCTGG[3] (p.Leu35_Val36insAlaLeuAlaLeuAlaLeu)
|
|
|
NM_000543.5(SMPD1):c.107_108insCTGGC (p.Leu37fs)
|
rs1554933813
|
|
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)
|
rs775860642
|
|
NM_000543.5(SMPD1):c.107_136dup (p.Leu45_Ala46insValLeuAlaLeuAlaLeuAlaLeuAlaLeu)
|
|
|
NM_000543.5(SMPD1):c.107delinsCGCTGGCGCTGGC (p.Val36delinsAlaLeuAlaLeuAla)
|
rs1847861920
|
|
NM_000543.5(SMPD1):c.108GCTGGC[2] (p.38AL[2])
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[4] (p.38AL[4])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.108GCTGGC[7] (p.38AL[7])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla)
|
rs775568984
|
|
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
|
|
|
NM_000543.5(SMPD1):c.113C>A (p.Ala38Glu)
|
rs71467507
|
|
NM_000543.5(SMPD1):c.113C>T (p.Ala38Val)
|
rs71467507
|
|
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe)
|
rs281860666
|
|
NM_000543.5(SMPD1):c.1168G>C (p.Glu390Gln)
|
|
|
NM_000543.5(SMPD1):c.118G>C (p.Ala40Pro)
|
rs1299899778
|
|
NM_000543.5(SMPD1):c.1191C>T (p.Asn397=)
|
rs766418804
|
|
NM_000543.5(SMPD1):c.1195A>G (p.Thr399Ala)
|
rs886042824
|
|
NM_000543.5(SMPD1):c.1201C>G (p.Pro401Ala)
|
|
|
NM_000543.5(SMPD1):c.1204G>A (p.Ala402Thr)
|
|
|
NM_000543.5(SMPD1):c.1264-5A>G
|
rs538875655
|
|
NM_000543.5(SMPD1):c.126_149del (p.Leu43_Ser50del)
|
rs1554933847
|
|
NM_000543.5(SMPD1):c.1280A>T (p.His427Leu)
|
rs794727629
|
|
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu)
|
rs281860669
|
|
NM_000543.5(SMPD1):c.130_147dup (p.38_39AL[9])
|
rs1554933850
|
|
NM_000543.5(SMPD1):c.1320TTA[1] (p.Tyr442del)
|
|
|
NM_000543.5(SMPD1):c.1328G>A (p.Arg443Gln)
|
|
|
NM_000543.5(SMPD1):c.1328G>C (p.Arg443Pro)
|
rs377609894
|
|
NM_000543.5(SMPD1):c.1328G>T (p.Arg443Leu)
|
rs377609894
|
|
NM_000543.5(SMPD1):c.1333G>A (p.Val445Ile)
|
|
|
NM_000543.5(SMPD1):c.1345G>C (p.Glu449Gln)
|
rs374018137
|
|
NM_000543.5(SMPD1):c.1354C>G (p.Leu452Val)
|
rs2134021009
|
|
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro)
|
rs794727705
|
|
NM_000543.5(SMPD1):c.1390G>T (p.Glu464Ter)
|
|
|
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu)
|
rs1848061944
|
|
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys)
|
rs267607074
|
|
NM_000543.5(SMPD1):c.1410T>A (p.Asp470Glu)
|
|
|
NM_000543.5(SMPD1):c.1437T>C (p.Ala479=)
|
rs745587850
|
|
NM_000543.5(SMPD1):c.145_150del (p.Leu49_Ser50del)
|
rs1382534368
|
|
NM_000543.5(SMPD1):c.1468T>A (p.Tyr490Asn)
|
rs398123477
|
|
NM_000543.5(SMPD1):c.1471A>C (p.Ile491Leu)
|
rs1429766647
|
|
NM_000543.5(SMPD1):c.1471A>G (p.Ile491Val)
|
rs1429766647
|
|
NM_000543.5(SMPD1):c.1474G>C (p.Gly492Arg)
|
|
|
NM_000543.5(SMPD1):c.1486+5G>C
|
|
|
NM_000543.5(SMPD1):c.1486+6_1486+9del
|
rs1389809925
|
|
NM_000543.5(SMPD1):c.148T>C (p.Ser50Pro)
|
rs781675416
|
|
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg)
|
rs754979734
|
|
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.1558A>C (p.Ile520Leu)
|
|
|
NM_000543.5(SMPD1):c.1566T>G (p.Asn522Lys)
|
rs1554935517
|
|
NM_000543.5(SMPD1):c.1592C>G (p.Ala531Gly)
|
rs2134023371
|
|
NM_000543.5(SMPD1):c.1595T>C (p.Ile532Thr)
|
|
|
NM_000543.5(SMPD1):c.1608G>A (p.Gln536=)
|
rs886048447
|
|
NM_000543.5(SMPD1):c.1617C>T (p.Tyr539=)
|
rs1181161932
|
|
NM_000543.5(SMPD1):c.164T>A (p.Leu55His)
|
|
|
NM_000543.5(SMPD1):c.1660G>C (p.Ala554Pro)
|
rs758811926
|
|
NM_000543.5(SMPD1):c.1666C>T (p.His556Tyr)
|
|
|
NM_000543.5(SMPD1):c.1675G>C (p.Val559Leu)
|
rs149939736
|
|
NM_000543.5(SMPD1):c.1688G>A (p.Arg563Gln)
|
|
|
NM_000543.5(SMPD1):c.1693G>A (p.Asp565Asn)
|
|
|
NM_000543.5(SMPD1):c.1709A>C (p.Gln570Pro)
|
rs750665692
|
|
NM_000543.5(SMPD1):c.1715_1717del (p.Phe572del)
|
|
|
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser)
|
rs2134024060
|
|
NM_000543.5(SMPD1):c.1720T>G (p.Phe574Val)
|
|
|
NM_000543.5(SMPD1):c.1729C>T (p.His577Tyr)
|
|
|
NM_000543.5(SMPD1):c.1763C>A (p.Thr588Lys)
|
|
|
NM_000543.5(SMPD1):c.1793A>G (p.Gln598Arg)
|
rs1554935731
|
|
NM_000543.5(SMPD1):c.1795C>A (p.Leu599Ile)
|
|
|
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.1821T>A (p.Ala607=)
|
rs1564928040
|
|
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys)
|
|
|
NM_000543.5(SMPD1):c.1829G>T (p.Arg610Leu)
|
rs140269316
|
|
NM_000543.5(SMPD1):c.1838T>C (p.Met613Thr)
|
|
|
NM_000543.5(SMPD1):c.1840C>T (p.Pro614Ser)
|
|
|
NM_000543.5(SMPD1):c.1844A>G (p.Asp615Gly)
|
rs886043825
|
|
NM_000543.5(SMPD1):c.1856del (p.Pro619fs)
|
|
|
NM_000543.5(SMPD1):c.1881G>T (p.Arg627Ser)
|
|
|
NM_000543.5(SMPD1):c.215G>T (p.Arg72Met)
|
|
|
NM_000543.5(SMPD1):c.221A>C (p.His74Pro)
|
rs1564922040
|
|
NM_000543.5(SMPD1):c.255G>A (p.Gly85=)
|
rs1554933929
|
|
NM_000543.5(SMPD1):c.273C>G (p.Cys91Trp)
|
rs1847877445
|
|
NM_000543.5(SMPD1):c.277A>G (p.Ile93Val)
|
rs913533196
|
|
NM_000543.5(SMPD1):c.299C>A (p.Ala100Asp)
|
rs2134006790
|
|
NM_000543.5(SMPD1):c.299C>T (p.Ala100Val)
|
|
|
NM_000543.5(SMPD1):c.318+7A>G
|
rs747913628
|
|
NM_000543.5(SMPD1):c.322G>C (p.Glu108Gln)
|
|
|
NM_000543.5(SMPD1):c.338G>T (p.Arg113Leu)
|
|
|
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro)
|
rs1554934109
|
|
NM_000543.5(SMPD1):c.380T>C (p.Ile127Thr)
|
rs1847903513
|
|
NM_000543.5(SMPD1):c.394G>A (p.Val132Met)
|
rs189859589
|
|
NM_000543.5(SMPD1):c.427G>T (p.Asp143Tyr)
|
rs1564922967
|
|
NM_000543.5(SMPD1):c.439G>A (p.Val147Met)
|
rs936971458
|
|
NM_000543.5(SMPD1):c.449G>A (p.Arg150His)
|
|
|
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro)
|
rs780134410
|
|
NM_000543.5(SMPD1):c.497C>T (p.Thr166Ile)
|
rs1275053638
|
|
NM_000543.5(SMPD1):c.505C>A (p.His169Asn)
|
|
|
NM_000543.5(SMPD1):c.536C>T (p.Ser179Phe)
|
rs1215635747
|
|
NM_000543.5(SMPD1):c.541C>A (p.Pro181Thr)
|
|
|
NM_000543.5(SMPD1):c.544A>G (p.Thr182Ala)
|
|
|
NM_000543.5(SMPD1):c.559C>A (p.Pro187Thr)
|
rs74053349
|
|
NM_000543.5(SMPD1):c.567A>G (p.Lys189=)
|
rs750187574
|
|
NM_000543.5(SMPD1):c.569C>T (p.Pro190Leu)
|
|
|
NM_000543.5(SMPD1):c.574A>C (p.Ser192Arg)
|
rs1554934265
|
|
NM_000543.5(SMPD1):c.580C>T (p.Pro194Ser)
|
|
|
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)
|
rs797044798
|
|
NM_000543.5(SMPD1):c.610C>T (p.Leu204Phe)
|
rs1690892137
|
|
NM_000543.5(SMPD1):c.627G>A (p.Leu209=)
|
rs200443318
|
|
NM_000543.5(SMPD1):c.657_659dup (p.Thr219_Asp220insGlu)
|
rs886042425
|
|
NM_000543.5(SMPD1):c.661C>A (p.Pro221Thr)
|
rs2134010893
|
|
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg)
|
rs1564923612
|
|
NM_000543.5(SMPD1):c.682T>G (p.Cys228Gly)
|
rs1564923612
|
|
NM_000543.5(SMPD1):c.686G>T (p.Cys229Phe)
|
rs1554934342
|
|
NM_000543.5(SMPD1):c.691C>T (p.Arg231Trp)
|
|
|
NM_000543.5(SMPD1):c.695G>C (p.Gly232Ala)
|
rs1366957686
|
|
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe)
|
rs1847925080
|
|
NM_000543.5(SMPD1):c.734A>C (p.Tyr245Ser)
|
rs1847928024
|
|
NM_000543.5(SMPD1):c.767T>C (p.Leu256Pro)
|
|
|
NM_000543.5(SMPD1):c.772A>C (p.Thr258Pro)
|
rs794727251
|
|
NM_000543.5(SMPD1):c.796C>G (p.Leu266Val)
|
|
|
NM_000543.5(SMPD1):c.823G>T (p.Val275Leu)
|
rs1172255199
|
|
NM_000543.5(SMPD1):c.826T>C (p.Tyr276His)
|
rs1554934427
|
|
NM_000543.5(SMPD1):c.833C>T (p.Thr278Ile)
|
|
|
NM_000543.5(SMPD1):c.836G>A (p.Gly279Glu)
|
rs727504168
|
|
NM_000543.5(SMPD1):c.858C>A (p.Val286=)
|
rs1194457629
|
|
NM_000543.5(SMPD1):c.861G>C (p.Trp287Cys)
|
rs1319381364
|
|
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)
|
rs1803161
|
|
NM_000543.5(SMPD1):c.879C>T (p.Asp293=)
|
rs886048445
|
|
NM_000543.5(SMPD1):c.890C>T (p.Ala297Val)
|
|
|
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.934G>A (p.Val312Met)
|
rs941413871
|
|
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)
|
rs757934797
|
|
NM_000543.5(SMPD1):c.973_974insTGT (p.Pro325delinsLeuSer)
|
rs398123480
|
|
NM_000543.5(SMPD1):c.988C>G (p.Pro330Ala)
|
rs1564924380
|
|
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
|
|
|
NM_000543.5(SMPD1):c.995C>A (p.Pro332His)
|
|
|
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)
|
rs202081954
|
|
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu)
|
rs202081954
|
|