NM_058004.4(PI4KA):c.2987+38A>G
|
rs2329583
|
0.48914
|
NM_058004.4(PI4KA):c.4053-15G>C
|
rs3852979
|
0.48174
|
NM_058004.4(PI4KA):c.864C>T (p.Cys288=)
|
rs165854
|
0.46048
|
NM_058004.4(PI4KA):c.1005+38_1005+40dup
|
rs362114
|
0.45949
|
NM_058004.4(PI4KA):c.5117-12C>T
|
rs1807692
|
0.44967
|
NM_058004.4(PI4KA):c.5390+38G>A
|
rs2329478
|
0.40758
|
NM_058004.4(PI4KA):c.5787T>C (p.Thr1929=)
|
rs5996654
|
0.40633
|
NM_058004.4(PI4KA):c.5679C>T (p.Cys1893=)
|
rs1135929
|
0.40089
|
NM_058004.4(PI4KA):c.5676+39C>A
|
rs5996656
|
0.39972
|
NM_058004.4(PI4KA):c.5677-37G>A
|
rs5996655
|
0.39965
|
NM_058004.4(PI4KA):c.1821-26G>A
|
rs165758
|
0.39089
|
NM_058004.4(PI4KA):c.5116+49T>G
|
rs5751800
|
0.37977
|
NM_058004.4(PI4KA):c.5677-31A>G
|
rs2629351
|
0.32228
|
NM_058004.4(PI4KA):c.5907T>C (p.Gly1969=)
|
rs444310
|
0.20117
|
NM_058004.4(PI4KA):c.6174-5C>T
|
rs426917
|
0.08694
|
NM_058004.4(PI4KA):c.5391-34A>C
|
rs5760167
|
0.07286
|
NM_058004.4(PI4KA):c.2988-12C>T
|
rs5751852
|
0.06921
|
NM_058004.4(PI4KA):c.529+29A>G
|
rs73162824
|
0.03594
|
NM_058004.4(PI4KA):c.4672C>T (p.Leu1558=)
|
rs113882528
|
0.00176
|
NM_058004.4(PI4KA):c.4368C>T (p.Tyr1456=)
|
rs113584704
|
0.00175
|
NM_058004.4(PI4KA):c.2797A>G (p.Met933Val)
|
rs142927362
|
0.00026
|
NM_058004.4(PI4KA):c.501G>T (p.Met167Ile)
|
rs185657767
|
0.00019
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
NM_058004.4(PI4KA):c.803G>A (p.Arg268His)
|
rs370921524
|
0.00003
|
NM_058004.4(PI4KA):c.2386C>T (p.Arg796Ter)
|
rs777006911
|
0.00001
|
NM_058004.4(PI4KA):c.2575-1G>A
|
rs775166339
|
0.00001
|
NM_058004.4(PI4KA):c.3454G>A (p.Glu1152Lys)
|
rs1351749039
|
0.00001
|
NM_058004.4(PI4KA):c.5512G>A (p.Asp1838Asn)
|
rs760261849
|
0.00001
|
NM_058004.4(PI4KA):c.5560G>A (p.Asp1854Asn)
|
rs747119727
|
0.00001
|
NM_058004.4(PI4KA):c.1076A>G (p.Asn359Ser)
|
rs1935729656
|
|
NM_058004.4(PI4KA):c.2041C>A (p.Gln681Lys)
|
|
|
NM_058004.4(PI4KA):c.2329-14T>A
|
rs73161000
|
|
NM_058004.4(PI4KA):c.2330T>C (p.Leu777Pro)
|
rs1490645147
|
|
NM_058004.4(PI4KA):c.2386del (p.Arg796fs)
|
rs1932452329
|
|
NM_058004.4(PI4KA):c.2624dup (p.Pro876fs)
|
rs747391554
|
|
NM_058004.4(PI4KA):c.2684C>T (p.Ser895Phe)
|
rs1932362121
|
|
NM_058004.4(PI4KA):c.274-21A>G
|
rs5760899
|
|
NM_058004.4(PI4KA):c.3109G>A (p.Ala1037Thr)
|
rs1568988215
|
|
NM_058004.4(PI4KA):c.3275C>A (p.Ser1092Ter)
|
rs144933467
|
|
NM_058004.4(PI4KA):c.3571C>T (p.Gln1191Ter)
|
rs2147287553
|
|
NM_058004.4(PI4KA):c.3592G>A (p.Ala1198Thr)
|
rs1929601378
|
|
NM_058004.4(PI4KA):c.3646T>C (p.Trp1216Arg)
|
|
|
NM_058004.4(PI4KA):c.4489G>A (p.Ala1497Thr)
|
|
|
NM_058004.4(PI4KA):c.4901del (p.Thr1634fs)
|
|
|
NM_058004.4(PI4KA):c.5116C>G (p.Pro1706Ala)
|
|
|
NM_058004.4(PI4KA):c.5645T>C (p.Phe1882Ser)
|
rs1925470890
|
|
NM_058004.4(PI4KA):c.5774G>A (p.Gly1925Glu)
|
rs2147171210
|
|
NM_058004.4(PI4KA):c.5860C>G (p.Gln1954Glu)
|
|
|
NM_058004.4(PI4KA):c.5974C>T (p.Pro1992Ser)
|
rs2147164417
|
|
NM_058004.4(PI4KA):c.6065del (p.Arg2022fs)
|
rs1419816068
|
|
NM_058004.4(PI4KA):c.6156_6159del (p.Thr2053fs)
|
rs139598272
|
|
NM_058004.4(PI4KA):c.911T>A (p.Ile304Asn)
|
rs752196534
|
|
NM_058004.4(PI4KA):c.[1414A>C;355C>T]
|
|
|