NM_005859.5(PURA):c.321C>T (p.Ala107=)
|
rs149139260
|
0.00187
|
NM_005859.5(PURA):c.621C>T (p.Asp207=)
|
rs142688247
|
0.00014
|
NM_005859.5(PURA):c.543C>T (p.Gly181=)
|
rs555886273
|
0.00010
|
NM_005859.5(PURA):c.146G>T (p.Gly49Val)
|
rs773489265
|
0.00006
|
NM_005859.5(PURA):c.27G>A (p.Glu9=)
|
rs1481319515
|
0.00003
|
NM_005859.5(PURA):c.127A>G (p.Ser43Gly)
|
rs1335796595
|
0.00002
|
NM_005859.5(PURA):c.138C>T (p.Gly46=)
|
rs1453834303
|
0.00002
|
NM_005859.5(PURA):c.110G>C (p.Gly37Ala)
|
rs1430796646
|
0.00001
|
NM_005859.5(PURA):c.*20CA[8]
|
rs574050232
|
|
NM_005859.5(PURA):c.*8G>A
|
|
|
NM_005859.5(PURA):c.114_122del (p.Gly40_Gly42del)
|
rs761730239
|
|
NM_005859.5(PURA):c.116dup (p.Gly40fs)
|
rs886041754
|
|
NM_005859.5(PURA):c.123_128dup (p.Ser43_Gly44dup)
|
rs1039658835
|
|
NM_005859.5(PURA):c.123_146del (p.Gly42_Gly49del)
|
rs750397204
|
|
NM_005859.5(PURA):c.127_141del (p.Ser43_Gly47del)
|
rs1412581529
|
|
NM_005859.5(PURA):c.132CGG[3] (p.Gly48_Gly49del)
|
rs754074166
|
|
NM_005859.5(PURA):c.132CGG[4] (p.Gly49del)
|
rs754074166
|
|
NM_005859.5(PURA):c.132CGG[6] (p.Gly49dup)
|
rs754074166
|
|
NM_005859.5(PURA):c.137del (p.Gly46fs)
|
rs1554129023
|
|
NM_005859.5(PURA):c.14_25delinsC (p.Asp5fs)
|
rs1554129000
|
|
NM_005859.5(PURA):c.159dup (p.Leu54fs)
|
rs1554129040
|
|
NM_005859.5(PURA):c.15_16del (p.Asp5fs)
|
rs2126748513
|
|
NM_005859.5(PURA):c.163C>T (p.Gln55Ter)
|
rs1085307472
|
|
NM_005859.5(PURA):c.168C>G (p.His56Gln)
|
|
|
NM_005859.5(PURA):c.169G>C (p.Glu57Gln)
|
rs2126748783
|
|
NM_005859.5(PURA):c.171_172dup (p.Thr58fs)
|
rs2126748787
|
|
NM_005859.5(PURA):c.173_174insT (p.Gln59fs)
|
rs1064795465
|
|
NM_005859.5(PURA):c.1A>G (p.Met1Val)
|
rs793888530
|
|
NM_005859.5(PURA):c.202A>G (p.Ile68Val)
|
rs1064795621
|
|
NM_005859.5(PURA):c.205C>T (p.Gln69Ter)
|
rs1554129045
|
|
NM_005859.5(PURA):c.211A>G (p.Lys71Glu)
|
rs2126748823
|
|
NM_005859.5(PURA):c.214C>A (p.Arg72Ser)
|
|
|
NM_005859.5(PURA):c.224T>C (p.Leu75Pro)
|
rs1554129049
|
|
NM_005859.5(PURA):c.248del (p.Gly83fs)
|
rs1064796409
|
|
NM_005859.5(PURA):c.263T>C (p.Ile88Thr)
|
rs1554129050
|
|
NM_005859.5(PURA):c.264del (p.Ile88fs)
|
rs1064793761
|
|
NM_005859.5(PURA):c.267del (p.Glu90fs)
|
rs1064793665
|
|
NM_005859.5(PURA):c.268G>A (p.Glu90Lys)
|
rs1763043164
|
|
NM_005859.5(PURA):c.281del (p.Gly94fs)
|
rs1581036262
|
|
NM_005859.5(PURA):c.302_310del (p.Thr101_Ser103del)
|
rs793888533
|
|
NM_005859.5(PURA):c.305T>G (p.Leu102Arg)
|
rs793888531
|
|
NM_005859.5(PURA):c.307_308dup (p.Met104fs)
|
rs587782992
|
|
NM_005859.5(PURA):c.325G>T (p.Glu109Ter)
|
rs1554129064
|
|
NM_005859.5(PURA):c.34G>T (p.Gly12Cys)
|
rs2126748529
|
|
NM_005859.5(PURA):c.363C>G (p.Tyr121Ter)
|
rs587782996
|
|
NM_005859.5(PURA):c.38del (p.Ala13fs)
|
rs1581036001
|
|
NM_005859.5(PURA):c.41C>T (p.Ala14Val)
|
|
|
NM_005859.5(PURA):c.42_57del (p.Leu15fs)
|
rs886041894
|
|
NM_005859.5(PURA):c.450C>G (p.Arg150=)
|
rs201822080
|
|
NM_005859.5(PURA):c.451G>T (p.Glu151Ter)
|
rs1554129089
|
|
NM_005859.5(PURA):c.458G>A (p.Arg153His)
|
|
|
NM_005859.5(PURA):c.458G>C (p.Arg153Pro)
|
rs886039610
|
|
NM_005859.5(PURA):c.45_60dup (p.Leu21fs)
|
rs1581036015
|
|
NM_005859.5(PURA):c.469A>G (p.Met157Val)
|
rs2126749113
|
|
NM_005859.5(PURA):c.478A>C (p.Lys160Gln)
|
|
|
NM_005859.5(PURA):c.478A>G (p.Lys160Glu)
|
rs2126749118
|
|
NM_005859.5(PURA):c.486C>G (p.Asn162Lys)
|
rs1085307826
|
|
NM_005859.5(PURA):c.487C>T (p.Gln163Ter)
|
rs1554129091
|
|
NM_005859.5(PURA):c.494G>A (p.Gly165Asp)
|
rs2126749144
|
|
NM_005859.5(PURA):c.496C>A (p.Arg166Ser)
|
rs1554129096
|
|
NM_005859.5(PURA):c.4_8del (p.Ala2fs)
|
rs793888537
|
|
NM_005859.5(PURA):c.528G>C (p.Arg176=)
|
rs778994348
|
|
NM_005859.5(PURA):c.534_555dup (p.Gln186fs)
|
rs1581036474
|
|
NM_005859.5(PURA):c.53dup (p.Gly19fs)
|
rs1581036040
|
|
NM_005859.5(PURA):c.572C>T (p.Pro191Leu)
|
rs1064795165
|
|
NM_005859.5(PURA):c.595C>T (p.Arg199Cys)
|
rs1763051347
|
|
NM_005859.5(PURA):c.596G>C (p.Arg199Pro)
|
rs587783001
|
|
NM_005859.5(PURA):c.608C>T (p.Ala203Val)
|
rs2126749271
|
|
NM_005859.5(PURA):c.616_618del (p.Ile206del)
|
rs1064795428
|
|
NM_005859.5(PURA):c.625T>G (p.Tyr209Asp)
|
|
|
NM_005859.5(PURA):c.658G>A (p.Glu220Lys)
|
|
|
NM_005859.5(PURA):c.66dup (p.His23fs)
|
rs1581036051
|
|
NM_005859.5(PURA):c.677_678del (p.Val226fs)
|
rs1064796830
|
|
NM_005859.5(PURA):c.685A>T (p.Lys229Ter)
|
rs1057524637
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
NM_005859.5(PURA):c.692T>G (p.Phe231Cys)
|
rs1554129113
|
|
NM_005859.5(PURA):c.704T>G (p.Val235Gly)
|
rs1057524051
|
|
NM_005859.5(PURA):c.70C>G (p.Pro24Ala)
|
rs1064795164
|
|
NM_005859.5(PURA):c.711dup (p.Asn238fs)
|
rs886042017
|
|
NM_005859.5(PURA):c.733C>T (p.Arg245Ter)
|
rs1554129116
|
|
NM_005859.5(PURA):c.745del (p.Glu248_Val249insTer)
|
rs793888539
|
|
NM_005859.5(PURA):c.779C>T (p.Pro260Leu)
|
rs1064795567
|
|
NM_005859.5(PURA):c.78_83dup (p.26_27SG[4])
|
rs763926656
|
|
NM_005859.5(PURA):c.793G>A (p.Ala265Thr)
|
|
|
NM_005859.5(PURA):c.802G>T (p.Gly268Ter)
|
rs2126749415
|
|
NM_005859.5(PURA):c.808_809del (p.Thr270fs)
|
rs886041600
|
|
NM_005859.5(PURA):c.812_814del (p.Phe271del)
|
rs587782991
|
|
NM_005859.5(PURA):c.898C>T (p.Gln300Ter)
|
|
|