NM_006231.4(POLE):c.270del (p.Asp90fs)
|
rs878854854
|
0.00002
|
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter)
|
rs754982151
|
0.00002
|
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs)
|
rs1060500792
|
0.00001
|
NM_006231.4(POLE):c.2026+1G>C
|
rs768964210
|
0.00001
|
NM_006231.4(POLE):c.2562-2A>C
|
rs751662353
|
0.00001
|
NM_006231.4(POLE):c.2706+1G>T
|
rs777844240
|
0.00001
|
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter)
|
rs139603739
|
0.00001
|
NM_006231.4(POLE):c.3677_3678del (p.Pro1226fs)
|
rs765645032
|
0.00001
|
NM_006231.4(POLE):c.424-2A>G
|
rs1555230117
|
0.00001
|
NM_006231.4(POLE):c.5174-1G>T
|
rs5744954
|
0.00001
|
NM_006231.4(POLE):c.5422C>T (p.Gln1808Ter)
|
rs1167794021
|
0.00001
|
NM_006231.4(POLE):c.5812-1G>T
|
rs1296022681
|
0.00001
|
NM_006231.4(POLE):c.63-2A>G
|
rs2043162649
|
0.00001
|
NM_006231.4(POLE):c.6330+1G>A
|
rs768952241
|
0.00001
|
NM_006231.4(POLE):c.6418del (p.Glu2140fs)
|
rs1064794703
|
0.00001
|
NM_006231.4(POLE):c.6658-2A>G
|
rs751217859
|
0.00001
|
NM_006231.4(POLE):c.941C>G (p.Ser314Ter)
|
rs869312803
|
0.00001
|
NM_006231.4(POLE):c.1020+1G>T
|
rs1064794748
|
|
NM_006231.4(POLE):c.1021-1G>C
|
rs1593077673
|
|
NM_006231.4(POLE):c.1021-26_1045delinsGTTCTACACC
|
rs1555229232
|
|
NM_006231.4(POLE):c.1089C>G (p.Asn363Lys)
|
rs146639652
|
|
NM_006231.4(POLE):c.1106+1G>A
|
rs2136010908
|
|
NM_006231.4(POLE):c.1106+2T>A
|
rs1593077420
|
|
NM_006231.4(POLE):c.1106+2T>C
|
rs1593077420
|
|
NM_006231.4(POLE):c.1106+2T>G
|
rs1593077420
|
|
NM_006231.4(POLE):c.1107-1G>A
|
|
|
NM_006231.4(POLE):c.1107-1G>T
|
|
|
NM_006231.4(POLE):c.1107-2A>G
|
rs1565975328
|
|
NM_006231.4(POLE):c.1226+1G>A
|
rs778501724
|
|
NM_006231.4(POLE):c.1226+2_1226+5del
|
rs1593076635
|
|
NM_006231.4(POLE):c.1227-1G>A
|
|
|
NM_006231.4(POLE):c.1227-2A>T
|
rs1057517609
|
|
NM_006231.4(POLE):c.1359+1G>A
|
rs1473881269
|
|
NM_006231.4(POLE):c.1360-1G>A
|
|
|
NM_006231.4(POLE):c.1360-36_1360-1del
|
rs2042973054
|
|
NM_006231.4(POLE):c.1473+1G>A
|
|
|
NM_006231.4(POLE):c.1474-1G>C
|
rs1565972026
|
|
NM_006231.4(POLE):c.1686+1G>A
|
|
|
NM_006231.4(POLE):c.1686+1G>C
|
rs1555228250
|
|
NM_006231.4(POLE):c.1686+2T>C
|
rs2042955507
|
|
NM_006231.4(POLE):c.1687-2A>G
|
rs2042947658
|
|
NM_006231.4(POLE):c.1794+1G>A
|
|
|
NM_006231.4(POLE):c.1794+2T>A
|
rs2135990079
|
|
NM_006231.4(POLE):c.1795-752_1864del
|
rs2042860243
|
|
NM_006231.4(POLE):c.1916_1923+16del
|
|
|
NM_006231.4(POLE):c.1923+2T>A
|
rs2135978895
|
|
NM_006231.4(POLE):c.2026+1G>T
|
rs768964210
|
|
NM_006231.4(POLE):c.2026+2T>C
|
rs2135977645
|
|
NM_006231.4(POLE):c.2027-1G>A
|
|
|
NM_006231.4(POLE):c.204+1G>A
|
rs1431917980
|
|
NM_006231.4(POLE):c.205-2A>G
|
rs2043148194
|
|
NM_006231.4(POLE):c.2091del (p.Leu698fs)
|
rs752846614
|
|
NM_006231.4(POLE):c.2319+1G>C
|
|
|
NM_006231.4(POLE):c.2320-2A>G
|
rs2135962410
|
|
NM_006231.4(POLE):c.2468+1G>A
|
rs1060500806
|
|
NM_006231.4(POLE):c.2469-2A>G
|
|
|
NM_006231.4(POLE):c.2469-2_2469-1del
|
rs2135958616
|
|
NM_006231.4(POLE):c.2561+1G>A
|
rs1565961210
|
|
NM_006231.4(POLE):c.2561+1G>T
|
rs1565961210
|
|
NM_006231.4(POLE):c.2706+1_2706+5del
|
rs779830137
|
|
NM_006231.4(POLE):c.2706+2T>C
|
rs1555226411
|
|
NM_006231.4(POLE):c.2707-2A>G
|
rs1593777670
|
|
NM_006231.4(POLE):c.2731del (p.Gln911fs)
|
rs1555226051
|
|
NM_006231.4(POLE):c.285+1G>A
|
|
|
NM_006231.4(POLE):c.286-1G>C
|
|
|
NM_006231.4(POLE):c.286-2A>G
|
rs1593086474
|
|
NM_006231.4(POLE):c.2864+1G>A
|
|
|
NM_006231.4(POLE):c.2864+1G>T
|
|
|
NM_006231.4(POLE):c.2865-1G>A
|
|
|
NM_006231.4(POLE):c.2865-2A>G
|
rs867360056
|
|
NM_006231.4(POLE):c.2865-2A>T
|
|
|
NM_006231.4(POLE):c.3060+1G>A
|
rs1593775696
|
|
NM_006231.4(POLE):c.3060+2T>G
|
rs775843286
|
|
NM_006231.4(POLE):c.3264_3275+13del
|
rs761516512
|
|
NM_006231.4(POLE):c.3275+1G>A
|
rs1402672053
|
|
NM_006231.4(POLE):c.3275+2T>C
|
rs2138673866
|
|
NM_006231.4(POLE):c.3276-2A>G
|
rs1060500838
|
|
NM_006231.4(POLE):c.330+2T>A
|
rs1425990651
|
|
NM_006231.4(POLE):c.331-1G>A
|
rs1555230196
|
|
NM_006231.4(POLE):c.331-2A>G
|
rs1565980363
|
|
NM_006231.4(POLE):c.3378+3G>T
|
|
|
NM_006231.4(POLE):c.3378+6T>C
|
|
|
NM_006231.4(POLE):c.3415_3420delinsTG (p.Gly1138_Ser1139insTer)
|
rs1555225201
|
|
NM_006231.4(POLE):c.3459+1G>A
|
rs1555225184
|
|
NM_006231.4(POLE):c.3582+2T>C
|
|
|
NM_006231.4(POLE):c.4005+1G>C
|
|
|
NM_006231.4(POLE):c.4005+1G>T
|
|
|
NM_006231.4(POLE):c.4006-1G>T
|
rs1057519256
|
|
NM_006231.4(POLE):c.4006-2A>C
|
|
|
NM_006231.4(POLE):c.4006-2A>T
|
rs1593748950
|
|
NM_006231.4(POLE):c.4149+1G>A
|
rs1212936945
|
|
NM_006231.4(POLE):c.4149+1G>T
|
|
|
NM_006231.4(POLE):c.4149+2T>C
|
rs1064796760
|
|
NM_006231.4(POLE):c.4150-1G>C
|
rs1372928198
|
|
NM_006231.4(POLE):c.4150-2A>G
|
rs2042218001
|
|
NM_006231.4(POLE):c.4150-388A>G
|
|
|
NM_006231.4(POLE):c.423+1G>A
|
|
|
NM_006231.4(POLE):c.424-1G>A
|
rs1555230115
|
|
NM_006231.4(POLE):c.4290+1G>A
|
rs1565940214
|
|
NM_006231.4(POLE):c.4290+1G>C
|
rs1565940214
|
|
NM_006231.4(POLE):c.4429_4444+1del
|
rs2138549402
|
|
NM_006231.4(POLE):c.4440_4444+8del
|
|
|
NM_006231.4(POLE):c.4444+1G>A
|
rs1593734374
|
|
NM_006231.4(POLE):c.4444+1G>T
|
|
|
NM_006231.4(POLE):c.4444+1_4444+16del
|
rs2042200333
|
|
NM_006231.4(POLE):c.4445-2A>C
|
rs766538692
|
|
NM_006231.4(POLE):c.4445-2A>G
|
rs766538692
|
|
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs)
|
rs1593733806
|
|
NM_006231.4(POLE):c.4551+2T>G
|
rs1374395062
|
|
NM_006231.4(POLE):c.4551+2_4551+3del
|
rs1251654299
|
|
NM_006231.4(POLE):c.4728+1G>C
|
|
|
NM_006231.4(POLE):c.4729-2A>G
|
|
|
NM_006231.4(POLE):c.4952+1G>A
|
|
|
NM_006231.4(POLE):c.4953-2A>G
|
rs2042166568
|
|
NM_006231.4(POLE):c.5103_5173+29del
|
rs1565936576
|
|
NM_006231.4(POLE):c.5156C>A (p.Ser1719Ter)
|
|
|
NM_006231.4(POLE):c.5173+1G>T
|
rs1060500866
|
|
NM_006231.4(POLE):c.5173+2T>C
|
rs1593729195
|
|
NM_006231.4(POLE):c.5174-2A>C
|
rs1036643774
|
|
NM_006231.4(POLE):c.5174-2A>G
|
rs1036643774
|
|
NM_006231.4(POLE):c.5378+1G>T
|
rs747165215
|
|
NM_006231.4(POLE):c.5379-5_5384del
|
rs1593722216
|
|
NM_006231.4(POLE):c.5552+1G>A
|
rs1555221894
|
|
NM_006231.4(POLE):c.5552+2T>C
|
|
|
NM_006231.4(POLE):c.5553-1G>A
|
rs1064796152
|
|
NM_006231.4(POLE):c.5678+1G>T
|
|
|
NM_006231.4(POLE):c.5678+2T>C
|
|
|
NM_006231.4(POLE):c.5679-1G>A
|
rs2042025444
|
|
NM_006231.4(POLE):c.578+1G>A
|
rs1565979631
|
|
NM_006231.4(POLE):c.578+1G>T
|
rs1565979631
|
|
NM_006231.4(POLE):c.578+2T>A
|
|
|
NM_006231.4(POLE):c.579-1G>A
|
|
|
NM_006231.4(POLE):c.579-2A>G
|
rs2043088809
|
|
NM_006231.4(POLE):c.5811+1G>A
|
rs2042021811
|
|
NM_006231.4(POLE):c.5812-1G>A
|
rs1296022681
|
|
NM_006231.4(POLE):c.6004+1G>A
|
rs2041988738
|
|
NM_006231.4(POLE):c.6136+1G>C
|
rs1593708662
|
|
NM_006231.4(POLE):c.6136+1G>T
|
rs1593708662
|
|
NM_006231.4(POLE):c.63-1G>A
|
rs2043162603
|
|
NM_006231.4(POLE):c.6330+2T>A
|
rs2138459040
|
|
NM_006231.4(POLE):c.6331-2A>G
|
rs915158165
|
|
NM_006231.4(POLE):c.6532-19_6532-12delinsA
|
|
|
NM_006231.4(POLE):c.6565_6568del (p.Asn2189fs)
|
|
|
NM_006231.4(POLE):c.6623del (p.Gln2208fs)
|
rs1555301070
|
|
NM_006231.4(POLE):c.6651_6657+6delinsTGC
|
rs1566308356
|
|
NM_006231.4(POLE):c.6658-1G>C
|
|
|
NM_006231.4(POLE):c.6658-1_6667del
|
rs2041802189
|
|
NM_006231.4(POLE):c.720+1G>A
|
rs1060500808
|
|
NM_006231.4(POLE):c.721-1G>A
|
rs2136018890
|
|
NM_006231.4(POLE):c.721-1G>C
|
|
|
NM_006231.4(POLE):c.802-2A>G
|
|
|
NM_006231.4(POLE):c.890C>T (p.Ser297Phe)
|
|
|
NM_006231.4(POLE):c.909+1G>A
|
rs2136015354
|
|
NM_006231.4(POLE):c.909+2T>C
|
|
|
NM_006231.4(POLE):c.910-13T>A
|
|
|
NM_006231.4(POLE):c.910-2A>G
|
rs2043047870
|
|