NM_000293.3(PHKB):c.*1001del
|
rs775113534
|
0.03023
|
NM_000294.3(PHKG2):c.83A>T (p.Asp28Val)
|
rs777228104
|
0.00009
|
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter)
|
rs149244943
|
0.00008
|
NM_000294.3(PHKG2):c.-70C>T
|
rs879456688
|
0.00006
|
NM_000292.3(PHKA2):c.2137+5G>A
|
rs372314504
|
0.00005
|
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
|
rs140014925
|
0.00005
|
NM_000293.3(PHKB):c.2427+965A>C
|
rs761645932
|
0.00004
|
NM_001014979.3(CFAP119):c.818-578G>A
|
rs371856479
|
0.00004
|
NM_000293.3(PHKB):c.204C>T (p.Thr68=)
|
rs759882590
|
0.00003
|
NM_002637.4(PHKA1):c.2606+1G>A
|
rs373517016
|
0.00003
|
NM_001014979.3(CFAP119):c.829G>A (p.Val277Ile)
|
rs768683366
|
0.00002
|
NM_000292.3(PHKA2):c.2606C>G (p.Pro869Arg)
|
rs777137574
|
0.00001
|
NM_000293.3(PHKB):c.306-2A>G
|
rs797044442
|
0.00001
|
NM_000293.3(PHKB):c.307C>T (p.Arg103Ter)
|
rs145166656
|
0.00001
|
NM_000293.3(PHKB):c.77-7del
|
rs754758968
|
0.00001
|
NM_001014979.3(CFAP119):c.512C>T (p.Thr171Ile)
|
rs886051920
|
0.00001
|
NM_001014979.3(CFAP119):c.658-4C>T
|
rs886051918
|
0.00001
|
NM_002637.4(PHKA1):c.2527-1G>T
|
rs1556257317
|
0.00001
|
NC_000016.9:g.(47495338_47531309)_(47545684_47549431)del
|
|
|
NC_000016.9:g.(47495338_47531309)_(47581460_47614205)del
|
|
|
NC_000016.9:g.(47623014_47627410)_(47630443_47644736)del
|
|
|
NC_000023.10:g.71800926_(71804153_71812953)del
|
|
|
NM_000292.3(PHKA2):c.3058-1G>A
|
rs751364453
|
|
NM_000293.3(PHKB):c.*1000del
|
rs11299370
|
|
NM_000293.3(PHKB):c.*1311dup
|
rs886052031
|
|
NM_000293.3(PHKB):c.*358_*360del
|
rs886052026
|
|
NM_000293.3(PHKB):c.*610TA[1]
|
rs201839105
|
|
NM_000293.3(PHKB):c.*982del
|
rs886052029
|
|
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del)
|
rs532057230
|
|
NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter)
|
|
|
NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter)
|
|
|
NM_000293.3(PHKB):c.3144+12_3144+13insT
|
rs757614728
|
|
NM_000293.3(PHKB):c.3144+12dup
|
rs1555500966
|
|
NM_000293.3(PHKB):c.3144+32_3144+34dup
|
rs5816579
|
|
NM_000293.3(PHKB):c.3144+34dup
|
rs5816579
|
|
NM_000293.3(PHKB):c.76+1G>C
|
|
|
NM_000294.3(PHKG2):c.*211C>T
|
rs886051915
|
|
NM_000294.3(PHKG2):c.556+4_556+5dup
|
rs767789467
|
|
NM_000294.3(PHKG2):c.925C>T (p.Arg309Trp)
|
|
|
NM_001014979.3(CFAP119):c.236+113A>G
|
rs886051922
|
|
NM_001014979.3(CFAP119):c.236+222T>C
|
rs886051921
|
|
NM_001014979.3(CFAP119):c.540+18A>G
|
rs886051919
|
|
NM_001014979.3(CFAP119):c.818-289T>C
|
rs886051917
|
|
NM_001014979.3(CFAP119):c.818-33C>T
|
rs886051916
|
|
NM_002637.4(PHKA1):c.*1241GT[11]
|
rs111688568
|
|
NM_002637.4(PHKA1):c.*1241GT[13]
|
rs111688568
|
|
NM_002637.4(PHKA1):c.*1241GT[14]
|
rs111688568
|
|
NM_002637.4(PHKA1):c.*625CT[2]
|
rs3070316
|
|
NM_002637.4(PHKA1):c.3244-155_3618del
|
|
|
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter)
|
rs1256371424
|
|