Browse by Target Mutation

  1. (CAG)81(6)
  2. (CAG)n(23)
  3. (IVS16DS plus 1G-A) in intron 16(33)
  4. c.*66A>T(10)
  5. c.*88T>C(6)
  6. c.104G>A, p.Cys35Tyr(76)
  7. c.1067G>A,p.Gly356Asp(40)
  8. c.1096G>A,p.Glu366Lys on M2,Glu342Lys on M1A(2)
  9. c.1462_1464CAG(90_93)(49)
  10. c.14693T>C,p.Ile4898Thr(30)
  11. c.148G>A,p.Val50Met(6)
  12. c.1565A>C,p.Tyr522Ser(20)
  13. c.157G>A,p.Ala53Thr(17)
  14. c.1682C>T ,p.Ala561Val(4)
  15. c.172_174CAG(10_36) (p.Gln69_Gln80del)](11)
  16. c.178 plus 29C>A(270)
  17. c.1960G>A,p.Val654Met(25)
  18. c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu)(33)
  19. c.209_211CAG(8_36),(p.Gln298_Gln305=)(6)
  20. c.211A>G(1)
  21. c.2149G>A,p.Val717Ile(8)
  22. c.2235_2243delGGAATTAAG, p.Leu747_Glu749del(9)
  23. c.2235_2248delGGAATTAAGAGAAGinsAATTC, p.Glu746_Ala750delinsIlePro(7)
  24. c.2235_2249delGGAATTAAGAGAAGC, p.Glu746_Ala750del(7)
  25. c.2248G>C,p.A750P(9)
  26. c.2384G>A,p.Arg795Gln(18)
  27. c.246T>C,NP_000080.2:p.Asp82=(7)
  28. c.256G>C, p.Gly86Arg(70)
  29. c.256G>C,p.Gly86Arg(197)
  30. c.281G>C (p.Gly94Ala)(6)
  31. c.281G>C,p.Gly94Ala(6)
  32. c.2907C>T,(p.Ile969=)(12)
  33. c.305C>T,p.Pro102Leu(45)
  34. c.314C>T,p.Pro105Leu(30)
  35. c.31G>C,p.Ala11Pro(14)
  36. c.3244G>T,p.Gly1082Cys(10)
  37. c.35G>T,p.Gly12Val(43)
  38. c.365A>T (p.Glu122Val)(8)
  39. c.36G>A,p.Gly12Asp(4)
  40. c.370C>T,p.Arg124Cys(23)
  41. c.404G>C,p.Arg135Thr(38)
  42. c.409G>C,p.Ala137Pro(19)
  43. c.419T>G,p.Leu140Arg(1)
  44. c.4321C>G,p.Arg1441Gly(3)
  45. c.4321C>T,p.Arg1441Cys(1)
  46. c.458C>G, p.Leu153Val(4)
  47. c.469A>G ,p.Met157Val(19)
  48. c.470T>C,p.Met157Thr(19)
  49. c.487C>T,p.Arg163Trp(19)
  50. c.488G>A,p.Arg163Gln(19)
  51. c.489G>A,p.Arg163=(14)
  52. c.500delAinsGGCT,p.Tyr167delinsTrpLeu (20)
  53. c.513C>A,p.Asn171Lys(27)
  54. c.514_516delAAC,p.Asn172del(3)
  55. c.5165C>A,c.52CAG(36_39)(6)
  56. c.524G>A ,p.Arg175His(14)
  57. c.52CAG(36_39)(179)
  58. c.532G>A,p.Asp178Asn(28)
  59. c.541T>C ,p.Ser181Pro(38)
  60. c.545_547del,p.N159del (40)
  61. c.579C>G, p.Asn193Lys(38)
  62. c.589_591CAG(36_38)(2)
  63. c.589_591CAG(36_38),p.Gln208_His209(4)
  64. c.6055G>A,p.Gly2019Ser(38)
  65. c.6127G>A,p.Gly2043Arg(24)
  66. c.617G>A,p.Arg206His(29)
  67. c.6752G>A,p.Gly2251Glu(42)
  68. c.6931T>C,c.52CAG(36_39)(6)
  69. c.727C>T, p.Arg243Trp(28)
  70. c.737C>T,p.Ser271Phe(2)
  71. c.764G>T,p.Gly255Val(19)
  72. c.811C>G, p.Leu271Val(19)
  73. c.8163G>A,c.52CAG(36_39)(6)
  74. c.830G>A,p.Arg277Gln(1)
  75. c.850G>A, p.G284R(19)
  76. c.88G>C,p.Ala30Pro(28)
  77. c.88_90CAG(7_17)(15)
  78. c.892_894CAG(8_36) (p.Gln298_Gln305=)(27)
  79. c.892_894CAG(8_36) (p.Gln298_Gln305=),c.987G>C(1)
  80. c.892_894CAG(8_36),(p.Gln298_Gln305=)(1)
  81. c.907_909delGAG,p.Glu303del(12)
  82. c.944C>T,p.R249W(10)
  83. c.G987C,c.892_894CAG(8_36) (p.Gln298_Gln305=)(18)
  84. NA(962)
  85. NC_000005.10:g.144594367C>A(18)
  86. NM_002111.6:c.9810C>T(53)
  87. NM_002111.7:c.5165C>A(24)
  88. NM_002111.7:c.6931T>C(102)
  89. NM_002111.7:c.8163G>A(12)
  90. NM_002389.4:c.104G>A, p.Cys35Tyr(710)
  91. p.Arg132His,c.394G>A(19)
  92. rs362268(4)
  93. rs362306(5)
  94. rs362307(2)
  95. SNCA locus triplication(88)
  96. Targeting on exon 1(21)