NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)
|
rs74315298
|
0.00039
|
NM_000098.3(CPT2):c.149C>A (p.Pro50His)
|
rs28936375
|
0.00022
|
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)
|
rs121918528
|
0.00006
|
NM_000098.3(CPT2):c.98del (p.Gln33fs)
|
rs917744011
|
0.00005
|
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp)
|
rs186044004
|
0.00004
|
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)
|
rs373638740
|
0.00004
|
NM_000311.5(PRNP):c.623G>A (p.Arg208His)
|
rs74315412
|
0.00004
|
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)
|
rs368311455
|
0.00003
|
NM_000098.3(CPT2):c.1813G>C (p.Val605Leu)
|
rs751557097
|
0.00003
|
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter)
|
rs727503887
|
0.00003
|
NM_000098.3(CPT2):c.887G>A (p.Arg296Gln)
|
rs764849762
|
0.00003
|
NM_000311.5(PRNP):c.538G>A (p.Val180Ile)
|
rs74315408
|
0.00003
|
NM_000098.3(CPT2):c.1660C>T (p.Arg554Ter)
|
rs539239516
|
0.00002
|
NM_000311.5(PRNP):c.628G>A (p.Val210Ile)
|
rs74315407
|
0.00002
|
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)
|
rs74315295
|
0.00001
|
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)
|
rs756931329
|
0.00001
|
NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs)
|
rs1557719455
|
0.00001
|
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys)
|
rs74315293
|
0.00001
|
NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter)
|
rs1374482155
|
0.00001
|
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)
|
rs201065226
|
0.00001
|
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)
|
rs515726177
|
0.00001
|
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp)
|
rs756839691
|
0.00001
|
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)
|
rs754363068
|
|
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)
|
rs397509431
|
|
NM_000098.3(CPT2):c.1444_1447del (p.Thr482fs)
|
|
|
NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs)
|
rs1057517477
|
|
NM_000098.3(CPT2):c.1569_1570del (p.His523fs)
|
rs1572385947
|
|
NM_000098.3(CPT2):c.1784del (p.Pro595fs)
|
rs760255368
|
|
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs)
|
rs908749525
|
|
NM_000098.3(CPT2):c.451C>T (p.Arg151Trp)
|
rs200080591
|
|
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)
|
rs515726173
|
|
NM_000098.3(CPT2):c.63dup (p.Ser22fs)
|
|
|
NM_000098.3(CPT2):c.748_749del (p.Asn250fs)
|
rs1187631754
|
|
NM_000311.3(PRNP):c.[385A>G;532G>A]
|
|
|
NM_000311.5(PRNP):c.154_177[6_13]
|
rs193922906
|
|
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu)
|
rs74315401
|
|
NM_000311.5(PRNP):c.313C>A (p.Pro105Thr)
|
rs74315414
|
|
NM_000311.5(PRNP):c.313C>T (p.Pro105Ser)
|
rs74315414
|
|
NM_000311.5(PRNP):c.314C>T (p.Pro105Leu)
|
rs11538758
|
|
NM_000311.5(PRNP):c.350C>T (p.Ala117Val)
|
rs74315402
|
|
NM_000311.5(PRNP):c.350_351inv (p.Ala117Val)
|
|
|
NM_000311.5(PRNP):c.392G>T (p.Gly131Val)
|
rs74315410
|
|
NM_000311.5(PRNP):c.398C>T (p.Ala133Val)
|
rs74315415
|
|
NM_000311.5(PRNP):c.435T>G (p.Tyr145Ter)
|
rs80356710
|
|
NM_000311.5(PRNP):c.478C>T (p.Gln160Ter)
|
rs80356711
|
|
NM_000311.5(PRNP):c.489C>G (p.Tyr163Ter)
|
rs1555782101
|
|
NM_000311.5(PRNP):c.532G>A (p.Asp178Asn)
|
rs74315403
|
|
NM_000311.5(PRNP):c.547A>G (p.Thr183Ala)
|
rs74315411
|
|
NM_000311.5(PRNP):c.560A>G (p.His187Arg)
|
rs74315413
|
|
NM_000311.5(PRNP):c.593T>C (p.Phe198Ser)
|
rs74315405
|
|
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys)
|
rs28933385
|
|
NM_000311.5(PRNP):c.631G>C (p.Glu211Gln)
|
rs398122370
|
|
NM_000311.5(PRNP):c.633G>C (p.Glu211Asp)
|
rs398122413
|
|
NM_000311.5(PRNP):c.650A>G (p.Gln217Arg)
|
rs74315406
|
|
NM_000311.5(PRNP):c.678C>A (p.Tyr226Ter)
|
rs398122414
|
|
NM_000311.5(PRNP):c.679C>T (p.Gln227Ter)
|
rs17852079
|
|
NM_030930.4(UNC93B1):c.1038_1041del (p.Phe346fs)
|
rs759883057
|
|
NM_030930.4(UNC93B1):c.286G>T (p.Glu96Ter)
|
rs753436679
|
|
NM_030930.4(UNC93B1):c.341_351del (p.Gly114fs)
|
|
|
NM_030930.4(UNC93B1):c.668_671del (p.Ile223fs)
|
|
|
NM_030930.4(UNC93B1):c.702C>A (p.Cys234Ter)
|
rs772974041
|
|