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.636T>C (p.Asp212=)
|
rs7951904
|
0.15081
|
NM_000543.5(SMPD1):c.1487-36C>T
|
rs11601088
|
0.10436
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)
|
rs144873307
|
0.00111
|
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.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
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.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
NM_000543.5(SMPD1):c.847G>A (p.Ala283Thr)
|
rs752148586
|
0.00002
|
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)
|
rs120074126
|
0.00001
|
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp)
|
rs398123475
|
0.00001
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)
|
rs748589919
|
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.742G>A (p.Glu248Lys)
|
rs200763423
|
0.00001
|
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)
|
rs120074128
|
0.00001
|
NM_000543.4(SMPD1):c.[1343A>G];[1426C>T]
|
|
|
NM_000543.5(SMPD1):c.1022G>A (p.Arg341His)
|
rs200242334
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser)
|
rs120074123
|
|
NM_000543.5(SMPD1):c.1167T>G (p.Arg389=)
|
rs1162794351
|
|
NM_000543.5(SMPD1):c.1314C>A (p.Ser438Arg)
|
rs267607073
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys)
|
rs2134019797
|
|
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)
|
rs267607075
|
|
NM_000543.5(SMPD1):c.1508A>T (p.Asp503Val)
|
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.1783C>G (p.Leu595Val)
|
rs2134024349
|
|
NM_000543.5(SMPD1):c.1810G>A (p.Asp604Asn)
|
rs2134024509
|
|
NM_000543.5(SMPD1):c.273C>G (p.Cys91Trp)
|
rs1847877445
|
|
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)
|
rs797044797
|
|
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)
|
rs797044798
|
|
NM_000543.5(SMPD1):c.647del (p.Leu216fs)
|
|
|
NM_000543.5(SMPD1):c.668G>C (p.Cys223Ser)
|
rs2134010914
|
|
NM_000543.5(SMPD1):c.725G>A (p.Gly242Asp)
|
rs1057435197
|
|
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)
|
rs794727252
|
|
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg)
|
rs757934797
|
|
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
|
|