NM_022081.6(HPS4):c.*1231C>T
|
rs56271395
|
0.35531
|
NM_022081.6(HPS4):c.*1229C>T
|
rs6147576
|
0.33676
|
NM_022081.5(HPS4):c.-660C>T
|
rs34019374
|
0.01443
|
NM_022081.6(HPS4):c.*1225T>C
|
rs886057311
|
0.00821
|
NM_022081.6(HPS4):c.751A>T (p.Thr251Ser)
|
rs34962745
|
0.00699
|
NM_022081.6(HPS4):c.*1762G>A
|
rs139974836
|
0.00680
|
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)
|
rs139344924
|
0.00669
|
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)
|
rs75248449
|
0.00528
|
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met)
|
rs146503597
|
0.00517
|
NM_022081.6(HPS4):c.710C>T (p.Ala237Val)
|
rs77597168
|
0.00411
|
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=)
|
rs62001052
|
0.00398
|
NM_212550.5(BLOC1S3):c.*155_*156insAA
|
rs570559399
|
0.00320
|
NM_022081.6(HPS4):c.250A>G (p.Ile84Val)
|
rs149830675
|
0.00306
|
NM_003664.5(AP3B1):c.2613C>T (p.His871=)
|
rs144420604
|
0.00295
|
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg)
|
rs148134252
|
0.00092
|
NM_032383.5(HPS3):c.*96TC[3]
|
rs1553756780
|
0.00063
|
NM_000195.5(HPS1):c.1915G>A (p.Gly639Ser)
|
rs116698870
|
0.00049
|
NM_181507.2(HPS5):c.2200C>T (p.Arg734Trp)
|
rs752089199
|
0.00019
|
NM_022081.6(HPS4):c.373C>G (p.Leu125Val)
|
rs180729981
|
0.00009
|
NM_003664.5(AP3B1):c.388C>T (p.Leu130=)
|
rs138774723
|
0.00004
|
NM_032383.5(HPS3):c.1379_1381del (p.Arg460_Gln461delinsLys)
|
rs775762509
|
0.00002
|
NM_022081.6(HPS4):c.765C>T (p.Ala255=)
|
rs886057318
|
0.00001
|
NM_181507.2(HPS5):c.825-14del
|
rs886048082
|
0.00001
|
NM_000096.4(CP):c.*583T>C
|
rs886058084
|
|
NM_000195.5(HPS1):c.*1215_*1217delinsTCC
|
rs386746903
|
|
NM_000195.5(HPS1):c.-153del
|
rs886046593
|
|
NM_003664.5(AP3B1):c.*552TAAA[1]
|
rs886060767
|
|
NM_003664.5(AP3B1):c.*69dup
|
rs886060769
|
|
NM_012388.4(BLOC1S6):c.*274TG[1]
|
rs766946085
|
|
NM_012388.4(BLOC1S6):c.*2818ACAA[4]
|
rs376870196
|
|
NM_022081.6(HPS4):c.*1024_*1028del
|
rs886057313
|
|
NM_022081.6(HPS4):c.*1191TG[16]
|
rs134978
|
|
NM_022081.6(HPS4):c.*1191TG[17]
|
rs134978
|
|
NM_022081.6(HPS4):c.*1191TG[20]
|
rs134978
|
|
NM_022081.6(HPS4):c.*1207_*1227delinsC
|
rs886057310
|
|
NM_022081.6(HPS4):c.*1207_*1227delinsCGC
|
rs886057310
|
|
NM_022081.6(HPS4):c.*1223_*1238del
|
rs886057303
|
|
NM_022081.6(HPS4):c.*1227_*1236del
|
rs755364858
|
|
NM_022081.6(HPS4):c.*1229CG[5]
|
rs10573454
|
|
NM_022081.6(HPS4):c.*1229CG[6]
|
rs10573454
|
|
NM_022081.6(HPS4):c.*1229CG[7]
|
rs10573454
|
|
NM_022081.6(HPS4):c.*1229CG[8]
|
rs10573454
|
|
NM_022081.6(HPS4):c.*1229_*1237delinsTGT
|
rs886057304
|
|
NM_022081.6(HPS4):c.*1229_*1237delinsTGTGT
|
rs886057304
|
|
NM_022081.6(HPS4):c.*1236_*1237insTAA
|
rs1555885488
|
|
NM_032122.5(DTNBP1):c.*151_*152dup
|
rs555440397
|
|
NM_032122.5(DTNBP1):c.489-12_489-8del
|
rs199770715
|
|
NM_032122.5(DTNBP1):c.489-8del
|
rs199770715
|
|
NM_032122.5(DTNBP1):c.489-8dup
|
rs199770715
|
|
NM_032122.5(DTNBP1):c.668-14del
|
rs886061225
|
|
NM_032383.4(HPS3):c.-108C>T
|
rs886058074
|
|
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.716T>G (p.Ile239Ser)
|
rs886058075
|
|
NM_032383.5(HPS3):c.884+11_884+12insT
|
rs886058076
|
|
NM_032383.5(HPS3):c.884+21_884+25dup
|
rs10693502
|
|
NM_032383.5(HPS3):c.884+22_884+25dup
|
rs10693502
|
|
NM_032383.5(HPS3):c.884+24_884+25dup
|
rs10693502
|
|
NM_181507.2(HPS5):c.*1003_*1004del
|
rs886048070
|
|
NM_181507.2(HPS5):c.2221ACA[1] (p.Thr742del)
|
rs886048077
|
|
NM_181507.2(HPS5):c.2837+15del
|
rs886048076
|
|