NM_032383.5(HPS3):c.2526C>T (p.His842=)
|
rs3732557
|
0.15600
|
NM_000096.4(CP):c.2991T>C (p.His997=)
|
rs34394958
|
0.03057
|
NM_000096.4(CP):c.*137C>T
|
rs34228141
|
0.02012
|
NM_000096.4(CP):c.3182-4A>G
|
rs34272112
|
0.00805
|
NM_032383.5(HPS3):c.*96TC[3]
|
rs1553756780
|
0.00063
|
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala)
|
rs144099522
|
0.00038
|
NM_032383.5(HPS3):c.2364A>G (p.Ala788=)
|
rs149563235
|
0.00034
|
NM_032383.5(HPS3):c.2469A>G (p.Thr823=)
|
rs370137287
|
0.00010
|
NM_032383.5(HPS3):c.2634G>A (p.Pro878=)
|
rs147593958
|
0.00003
|
NM_032383.5(HPS3):c.2524C>T (p.His842Tyr)
|
rs776346762
|
0.00002
|
NM_032383.5(HPS3):c.2527G>A (p.Val843Ile)
|
rs150765088
|
0.00002
|
NM_032383.5(HPS3):c.2589+1G>T
|
rs281865095
|
0.00002
|
NM_032383.5(HPS3):c.2667C>T (p.Ala889=)
|
rs761310586
|
0.00002
|
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys)
|
rs543058717
|
0.00002
|
NM_032383.5(HPS3):c.2464C>T (p.Arg822Ter)
|
rs369855073
|
0.00001
|
NM_032383.5(HPS3):c.2482-2A>G
|
rs397507168
|
0.00001
|
NM_032383.5(HPS3):c.2589+2T>C
|
rs1411572278
|
0.00001
|
NM_032383.5(HPS3):c.2796+2T>C
|
rs1476066527
|
0.00001
|
NC_000003.11:g.(148847728_148857790)_(148890984_?)del
|
|
|
NM_000096.4(CP):c.*583T>C
|
rs886058084
|
|
NM_000096.4(CP):c.*828dup
|
rs35907111
|
|
NM_032383.5(HPS3):c.*129_*130insGC
|
rs886058082
|
|
NM_032383.5(HPS3):c.*96_*97insATCACA
|
rs374839757
|
|
NM_032383.5(HPS3):c.*97CA[16]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[17]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[20]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[21]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[22]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[23]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97CA[25]
|
rs113015797
|
|
NM_032383.5(HPS3):c.*97_*98insTCACAC
|
rs72453449
|
|
NM_032383.5(HPS3):c.*97_*98insTCACACAC
|
rs72453449
|
|
NM_032383.5(HPS3):c.*97_*98insTCACACACAC
|
rs72453449
|
|
NM_032383.5(HPS3):c.*97_*98insTCTCACAC
|
rs72453449
|
|
NM_032383.5(HPS3):c.2370C>G (p.Leu790=)
|
rs746304657
|
|
NM_032383.5(HPS3):c.2459C>G (p.Pro820Arg)
|
rs1724018415
|
|
NM_032383.5(HPS3):c.2463dup (p.Arg822fs)
|
rs1576695913
|
|
NM_032383.5(HPS3):c.2479C>T (p.Leu827=)
|
rs773017257
|
|
NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs)
|
|
|
NM_032383.5(HPS3):c.2814dup (p.Leu939fs)
|
rs1576708708
|
|
NM_032383.5(HPS3):c.2887+18_2887+19dup
|
rs397710976
|
|
NM_032383.5(HPS3):c.2887+19dup
|
rs397710976
|
|
NM_032383.5(HPS3):c.2932A>G (p.Met978Val)
|
rs1206629874
|
|
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala)
|
rs922342164
|
|