NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)
|
rs140611214
|
0.00016
|
NM_014956.5(CEP164):c.1669dup (p.Glu557fs)
|
rs749114363
|
0.00004
|
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)
|
rs562932233
|
0.00004
|
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter)
|
rs149195472
|
0.00004
|
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)
|
rs764893412
|
0.00002
|
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter)
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rs765277720
|
0.00001
|
NM_014956.5(CEP164):c.1724+1G>A
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rs1489883516
|
0.00001
|
NM_014956.5(CEP164):c.2066+1G>A
|
rs1279037770
|
0.00001
|
NM_014956.5(CEP164):c.2493+1G>A
|
rs778819060
|
0.00001
|
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter)
|
rs774951398
|
0.00001
|
NM_014956.5(CEP164):c.2760+1G>T
|
rs1269878493
|
0.00001
|
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp)
|
rs387907310
|
0.00001
|
GRCh37/hg19 11q23.3(chr11:117278620-117284002)
|
|
|
NC_000011.9:g.(?_117253375)_(117257939_?)del
|
|
|
NM_014956.5(CEP164):c.1233+1G>A
|
|
|
NM_014956.5(CEP164):c.1234-2A>T
|
|
|
NM_014956.5(CEP164):c.1318-13_1319del
|
|
|
NM_014956.5(CEP164):c.1409+2T>C
|
|
|
NM_014956.5(CEP164):c.1934+1G>A
|
rs951827564
|
|
NM_014956.5(CEP164):c.194+2T>C
|
|
|
NM_014956.5(CEP164):c.2283+1G>C
|
|
|
NM_014956.5(CEP164):c.2283+2T>C
|
rs1459158279
|
|
NM_014956.5(CEP164):c.2284-1G>A
|
rs1391874809
|
|
NM_014956.5(CEP164):c.2361+1G>A
|
|
|
NM_014956.5(CEP164):c.2362-1G>T
|
|
|
NM_014956.5(CEP164):c.2562del (p.Met854fs)
|
rs1565582604
|
|
NM_014956.5(CEP164):c.2616+1G>A
|
rs2136378484
|
|
NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter)
|
rs373403222
|
|
NM_014956.5(CEP164):c.2914-1G>C
|
|
|
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter)
|
rs1323529877
|
|
NM_014956.5(CEP164):c.3216+1del
|
|
|
NM_014956.5(CEP164):c.3437del (p.Gln1146fs)
|
|
|
NM_014956.5(CEP164):c.347del (p.Lys116fs)
|
rs751277203
|
|
NM_014956.5(CEP164):c.347dup (p.Glu117fs)
|
|
|
NM_014956.5(CEP164):c.3502-2A>G
|
|
|
NM_014956.5(CEP164):c.3609+1G>T
|
|
|
NM_014956.5(CEP164):c.3748+2T>C
|
|
|
NM_014956.5(CEP164):c.3749-2A>G
|
rs1482717760
|
|
NM_014956.5(CEP164):c.381dup (p.Lys128fs)
|
rs747914869
|
|
NM_014956.5(CEP164):c.4096+1G>C
|
|
|
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs)
|
rs756288878
|
|
NM_014956.5(CEP164):c.552+1G>C
|
rs2041038603
|
|
NM_014956.5(CEP164):c.553-1G>A
|
rs2041099865
|
|
NM_014956.5(CEP164):c.687+1G>A
|
|
|
NM_014956.5(CEP164):c.688-2A>C
|
rs370034077
|
|
NM_014956.5(CEP164):c.765+1G>A
|
rs2041251614
|
|
NM_014956.5(CEP164):c.766-2A>G
|
rs2135912935
|
|