NM_022081.6(HPS4):c.-530A>G
|
rs3747137
|
0.11724
|
NM_212550.4(BLOC1S3):c.*1905T>C
|
rs78979751
|
0.06757
|
NM_003664.5(AP3B1):c.1969-10G>A
|
rs77009095
|
0.05363
|
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=)
|
rs17192146
|
0.04676
|
NM_022081.6(HPS4):c.558G>A (p.Ser186=)
|
rs13054747
|
0.03591
|
NM_000096.4(CP):c.2991T>C (p.His997=)
|
rs34394958
|
0.03057
|
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=)
|
rs76433453
|
0.02452
|
NM_001271769.2(AP3B1):c.*588A>G
|
rs114954951
|
0.02413
|
NM_181507.2(HPS5):c.1785-13C>T
|
rs73430857
|
0.02128
|
NM_181507.2(HPS5):c.139T>C (p.Leu47=)
|
rs73432728
|
0.02127
|
NM_000096.4(CP):c.*137C>T
|
rs34228141
|
0.02012
|
NM_022081.6(HPS4):c.1899C>T (p.Val633=)
|
rs35993959
|
0.01542
|
NM_003664.5(AP3B1):c.687A>G (p.Leu229=)
|
rs35496909
|
0.01507
|
NM_003664.5(AP3B1):c.339A>C (p.Ala113=)
|
rs7706167
|
0.01450
|
NM_000096.4(CP):c.*879A>C
|
rs144029944
|
0.00863
|
NM_000096.4(CP):c.3182-4A>G
|
rs34272112
|
0.00805
|
NM_032383.5(HPS3):c.*170C>T
|
rs182666670
|
0.00795
|
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile)
|
rs61755718
|
0.00512
|
NM_022081.6(HPS4):c.*1850G>A
|
rs143168600
|
0.00456
|
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg)
|
rs143784823
|
0.00417
|
NM_000096.4(CP):c.*259C>T
|
rs192321084
|
0.00414
|
NM_000195.5(HPS1):c.*12C>T
|
rs112544050
|
0.00352
|
NM_181507.2(HPS5):c.345G>A (p.Met115Ile)
|
rs149229493
|
0.00309
|
NM_000195.5(HPS1):c.*736C>T
|
rs149708847
|
0.00306
|
NM_032383.5(HPS3):c.2055G>A (p.Leu685=)
|
rs140443498
|
0.00300
|
NM_000195.5(HPS1):c.1683C>T (p.Cys561=)
|
rs112337765
|
0.00297
|
NM_022081.6(HPS4):c.1883G>A (p.Arg628His)
|
rs78892693
|
0.00257
|
NM_022081.6(HPS4):c.*1589C>A
|
rs117397456
|
0.00238
|
NM_022081.6(HPS4):c.696G>A (p.Pro232=)
|
rs3747132
|
0.00237
|
NM_024747.6(HPS6):c.1779G>A (p.Pro593=)
|
rs77529785
|
0.00228
|
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)
|
rs139968311
|
0.00213
|
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=)
|
rs115892142
|
0.00200
|
NM_022081.6(HPS4):c.15C>T (p.Thr5=)
|
rs144622501
|
0.00193
|
NM_024747.6(HPS6):c.632G>C (p.Gly211Ala)
|
rs200584437
|
0.00183
|
NM_022081.6(HPS4):c.-185A>G
|
rs188205202
|
0.00154
|
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val)
|
rs140234219
|
0.00153
|
NM_022081.6(HPS4):c.*1253G>A
|
rs534586940
|
0.00121
|
NM_022081.6(HPS4):c.-585T>G
|
rs187762406
|
0.00105
|
NM_003664.5(AP3B1):c.942G>A (p.Ala314=)
|
rs146871001
|
0.00093
|
NM_181507.2(HPS5):c.*70C>T
|
rs371535842
|
0.00087
|
NM_000195.5(HPS1):c.952C>G (p.Leu318Val)
|
rs201808262
|
0.00076
|
NM_022081.6(HPS4):c.-395A>C
|
rs147631281
|
0.00047
|
NM_022081.5(HPS4):c.-661G>T
|
rs753668169
|
0.00045
|
NM_022081.6(HPS4):c.*751G>A
|
rs190837977
|
0.00039
|
NM_032383.5(HPS3):c.1821C>G (p.Ile607Met)
|
rs148168280
|
0.00024
|
NM_181507.2(HPS5):c.*688A>G
|
rs145507598
|
0.00024
|
NM_181507.2(HPS5):c.*362G>A
|
rs148862838
|
0.00021
|
NM_181507.2(HPS5):c.1900G>A (p.Glu634Lys)
|
rs143204089
|
0.00019
|
NM_032383.5(HPS3):c.1711C>T (p.His571Tyr)
|
rs142027515
|
0.00014
|
NM_032383.5(HPS3):c.2469A>G (p.Thr823=)
|
rs370137287
|
0.00010
|
NM_032383.5(HPS3):c.1228A>G (p.Met410Val)
|
rs756295432
|
0.00008
|
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr)
|
rs536306260
|
0.00007
|
NM_032383.5(HPS3):c.1773G>A (p.Thr591=)
|
rs559550536
|
0.00007
|
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys)
|
rs200704721
|
0.00007
|
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys)
|
rs373272114
|
0.00006
|
NM_000195.5(HPS1):c.2052C>T (p.Ala684=)
|
rs576260502
|
0.00002
|
NM_032383.5(HPS3):c.2692C>T (p.Arg898Cys)
|
rs543058717
|
0.00002
|
NM_000195.5(HPS1):c.-219C>G
|
rs574471533
|
0.00001
|
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val)
|
rs191850940
|
0.00001
|
NM_024747.6(HPS6):c.105T>C (p.Arg35=)
|
rs573488604
|
0.00001
|
NM_181507.2(HPS5):c.1037A>G (p.Asn346Ser)
|
rs547880287
|
0.00001
|
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del)
|
rs199702315
|
|
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn)
|
rs201179527
|
|
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del)
|
rs111935323
|
|
NM_032383.5(HPS3):c.884+25del
|
rs10693502
|
|