NM_005859.5(PURA):c.321C>T (p.Ala107=)
|
rs149139260
|
0.00187
|
NM_005859.5(PURA):c.40G>C (p.Ala14Pro)
|
rs1046152089
|
0.00024
|
NM_005859.5(PURA):c.618C>T (p.Ile206=)
|
rs372391881
|
0.00015
|
NM_005859.5(PURA):c.621C>T (p.Asp207=)
|
rs142688247
|
0.00014
|
NM_005859.5(PURA):c.123C>T (p.Gly41=)
|
rs1395188527
|
0.00012
|
NM_005859.5(PURA):c.240C>T (p.Asn80=)
|
rs367658456
|
0.00011
|
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.186C>T (p.Ala62=)
|
rs963675770
|
0.00001
|
NM_005859.5(PURA):c.480G>A (p.Lys160=)
|
rs759194196
|
0.00001
|
NM_005859.5(PURA):c.537C>T (p.Gly179=)
|
rs370545019
|
0.00001
|
NM_005859.5(PURA):c.597T>C (p.Arg199=)
|
rs762183564
|
0.00001
|
NM_005859.5(PURA):c.101del (p.Gly34fs)
|
rs1763036977
|
|
NM_005859.5(PURA):c.105T>C (p.Gly35=)
|
rs1282359377
|
|
NM_005859.5(PURA):c.114_122del (p.Gly40_Gly42del)
|
rs761730239
|
|
NM_005859.5(PURA):c.114_137del (p.Gly42_Gly49del)
|
rs751351711
|
|
NM_005859.5(PURA):c.127_130del (p.Ser43fs)
|
rs1763038687
|
|
NM_005859.5(PURA):c.132CGG[6] (p.Gly49dup)
|
rs754074166
|
|
NM_005859.5(PURA):c.132CGG[7] (p.Gly48_Gly49dup)
|
rs754074166
|
|
NM_005859.5(PURA):c.153del (p.Leu54fs)
|
rs1554129039
|
|
NM_005859.5(PURA):c.168C>T (p.His56=)
|
|
|
NM_005859.5(PURA):c.208A>C (p.Asn70His)
|
|
|
NM_005859.5(PURA):c.305T>C (p.Leu102Pro)
|
rs793888531
|
|
NM_005859.5(PURA):c.450C>G (p.Arg150=)
|
rs201822080
|
|
NM_005859.5(PURA):c.450C>T (p.Arg150=)
|
rs201822080
|
|
NM_005859.5(PURA):c.458G>C (p.Arg153Pro)
|
rs886039610
|
|
NM_005859.5(PURA):c.458_487dup (p.Arg153_Asn162dup)
|
rs1763047232
|
|
NM_005859.5(PURA):c.465C>T (p.Tyr155=)
|
rs374074637
|
|
NM_005859.5(PURA):c.472G>T (p.Asp158Tyr)
|
rs797044866
|
|
NM_005859.5(PURA):c.475C>G (p.Leu159Val)
|
rs1763048369
|
|
NM_005859.5(PURA):c.495C>T (p.Gly165=)
|
rs1455936459
|
|
NM_005859.5(PURA):c.506G>C (p.Arg169Pro)
|
rs1554129099
|
|
NM_005859.5(PURA):c.531G>C (p.Gly177=)
|
rs746119626
|
|
NM_005859.5(PURA):c.531del (p.Pro178fs)
|
rs2126749210
|
|
NM_005859.5(PURA):c.533dup (p.Gly179fs)
|
rs1763049893
|
|
NM_005859.5(PURA):c.563T>C (p.Ile188Thr)
|
rs793888527
|
|
NM_005859.5(PURA):c.572C>T (p.Pro191Leu)
|
rs1064795165
|
|
NM_005859.5(PURA):c.583_602del (p.Leu195fs)
|
|
|
NM_005859.5(PURA):c.584T>A (p.Leu195His)
|
rs1763051158
|
|
NM_005859.5(PURA):c.641_645dup (p.Ala216fs)
|
rs1763052510
|
|
NM_005859.5(PURA):c.677_678del (p.Val226fs)
|
rs1064796830
|
|
NM_005859.5(PURA):c.681_682insTGAGGAC (p.Asn228Ter)
|
rs1763053171
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
NM_005859.5(PURA):c.692T>C (p.Phe231Ser)
|
rs1554129113
|
|
NM_005859.5(PURA):c.73G>A (p.Gly25Ser)
|
rs1561792992
|
|
NM_005859.5(PURA):c.7_11del (p.Asp3fs)
|
rs1554128999
|
|
NM_005859.5(PURA):c.82T>C (p.Ser28Pro)
|
rs1554129019
|
|
NM_005859.5(PURA):c.927_940del (p.Thr310fs)
|
rs797044944
|
|