NM_000543.5(SMPD1):c.8G>A (p.Arg3His)
|
rs199836262
|
0.00063
|
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)
|
rs144465428
|
0.00014
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NM_000543.5(SMPD1):c.39C>T (p.Pro13=)
|
rs775473869
|
0.00004
|
NM_000543.5(SMPD1):c.58G>A (p.Gly20Arg)
|
rs538153468
|
0.00003
|
NM_000543.5(SMPD1):c.75C>T (p.Ala25=)
|
rs1312090680
|
0.00001
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
NM_000543.5(SMPD1):c.84C>T (p.Pro28=)
|
rs577769499
|
0.00001
|
NM_000543.5(SMPD1):c.90C>A (p.Leu30=)
|
rs748793138
|
0.00001
|
NC_000011.10:g.6390221_6390884del
|
|
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NM_000543.5(SMPD1):c.24C>A (p.Leu8=)
|
|
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NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)
|
rs1205990349
|
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NM_000543.5(SMPD1):c.30G>A (p.Gln10=)
|
rs1847855057
|
|
NM_000543.5(SMPD1):c.33C>T (p.Ser11=)
|
|
|
NM_000543.5(SMPD1):c.36C>T (p.Cys12=)
|
rs767287886
|
|
NM_000543.5(SMPD1):c.39del (p.Arg14fs)
|
rs2134004594
|
|
NM_000543.5(SMPD1):c.43del (p.Ser15fs)
|
rs2134004628
|
|
NM_000543.5(SMPD1):c.45C>T (p.Ser15=)
|
|
|
NM_000543.5(SMPD1):c.49C>A (p.Arg17=)
|
|
|
NM_000543.5(SMPD1):c.50G>A (p.Arg17Gln)
|
|
|
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter)
|
rs1428487333
|
|
NM_000543.5(SMPD1):c.56del (p.Gln19fs)
|
rs1554933746
|
|
NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs)
|
rs1847857299
|
|
NM_000543.5(SMPD1):c.60A>G (p.Gly20=)
|
|
|
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)
|
rs1554933751
|
|
NM_000543.5(SMPD1):c.66C>T (p.Asp22=)
|
rs886048444
|
|
NM_000543.5(SMPD1):c.69del (p.Thr24fs)
|
|
|
NM_000543.5(SMPD1):c.6C>T (p.Pro2=)
|
|
|
NM_000543.5(SMPD1):c.72C>A (p.Thr24=)
|
rs886043870
|
|
NM_000543.5(SMPD1):c.72C>T (p.Thr24=)
|
rs886043870
|
|
NM_000543.5(SMPD1):c.7del (p.Arg3fs)
|
rs281860663
|
|
NM_000543.5(SMPD1):c.84C>G (p.Pro28=)
|
rs577769499
|
|
NM_000543.5(SMPD1):c.84del (p.Gly29fs)
|
rs750157176
|
|
NM_000543.5(SMPD1):c.90C>T (p.Leu30=)
|
rs748793138
|
|
NM_000543.5(SMPD1):c.9C>G (p.Arg3=)
|
|
|
NM_000543.5(SMPD1):c.9C>T (p.Arg3=)
|
rs2134004441
|
|