NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
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.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.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)
|
rs587779408
|
0.00003
|
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.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)
|
rs776442314
|
0.00001
|
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)
|
rs120074126
|
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.502G>A (p.Gly168Arg)
|
rs1847910654
|
0.00001
|
NM_000543.5(SMPD1):c.573del (p.Ser192fs)
|
rs727504167
|
0.00001
|
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)
|
rs989639224
|
0.00001
|
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)
|
rs120074128
|
0.00001
|
NM_000271.5(NPC1):c.99_100del (p.Ala34fs)
|
rs2059233076
|
|
NM_000543.5(SMPD1):c.1092-1G>C
|
rs398123474
|
|
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)
|
rs120074125
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)
|
rs281860665
|
|
NM_000543.5(SMPD1):c.1497_1498inv (p.Tyr500His)
|
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)
|
rs120074118
|
|
NM_000543.5(SMPD1):c.193del (p.Ser65fs)
|
rs1057517098
|
|
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)
|
rs786204694
|
|
NM_000543.5(SMPD1):c.564del (p.Lys189fs)
|
rs756366019
|
|
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter)
|
rs120074122
|
|
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.84del (p.Gly29fs)
|
rs750157176
|
|
NM_000543.5(SMPD1):c.996del (p.Phe333fs)
|
rs387906289
|
|