NM_003136.4(SRP54):c.1327+16_1327+32del
|
rs369856554
|
0.16649
|
NM_001164277.2(SLC37A4):c.149-14A>G
|
rs79849261
|
0.01232
|
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile)
|
rs146591126
|
0.00669
|
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys)
|
rs146617729
|
0.00588
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)
|
rs143097446
|
0.00471
|
NM_000081.4(LYST):c.4863-19T>C
|
rs150288597
|
0.00393
|
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg)
|
rs34491309
|
0.00334
|
NM_005263.5(GFI1):c.792C>T (p.Phe264=)
|
rs114487177
|
0.00276
|
NM_000377.3(WAS):c.391G>A (p.Glu131Lys)
|
rs146220228
|
0.00222
|
NM_000377.3(WAS):c.1453+16C>T
|
rs200543049
|
0.00115
|
NM_003136.4(SRP54):c.636A>C (p.Ile212=)
|
rs140228686
|
0.00113
|
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)
|
rs150083315
|
0.00053
|
NM_003664.5(AP3B1):c.279+16A>G
|
rs199804239
|
0.00035
|
NM_000081.4(LYST):c.6782G>A (p.Arg2261His)
|
rs147791378
|
0.00031
|
NM_000377.3(WAS):c.873C>T (p.Tyr291=)
|
rs149123892
|
0.00029
|
NM_000377.3(WAS):c.1110A>C (p.Pro370=)
|
rs782244198
|
0.00028
|
NM_000081.4(LYST):c.368A>G (p.His123Arg)
|
rs3768067
|
0.00027
|
NM_000377.3(WAS):c.1339-18G>A
|
rs370010448
|
0.00020
|
NM_000377.3(WAS):c.1191G>A (p.Pro397=)
|
rs782486251
|
0.00019
|
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)
|
rs782307200
|
0.00019
|
NM_001164277.2(SLC37A4):c.148+20G>A
|
rs782050642
|
0.00013
|
NM_000377.3(WAS):c.559+3G>A
|
rs782645822
|
0.00010
|
NM_024598.4(USB1):c.387G>C (p.Leu129=)
|
rs542658449
|
0.00010
|
NM_152564.5(VPS13B):c.10868-7G>A
|
rs376141593
|
0.00009
|
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=)
|
rs368678559
|
0.00007
|
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr)
|
rs536306260
|
0.00007
|
NM_000377.3(WAS):c.273+14C>T
|
rs782249573
|
0.00006
|
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)
|
rs781824710
|
0.00006
|
NM_000377.3(WAS):c.339C>T (p.Phe113=)
|
rs782233413
|
0.00003
|
NM_000377.3(WAS):c.420C>T (p.Leu140=)
|
rs782639067
|
0.00002
|
NM_024598.4(USB1):c.111C>T (p.Pro37=)
|
rs767672950
|
0.00002
|
NM_000377.3(WAS):c.867T>C (p.Leu289=)
|
rs781855402
|
0.00001
|
NM_000377.3(WAS):c.897G>A (p.Gly299=)
|
rs782793103
|
0.00001
|
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=)
|
rs1043721709
|
0.00001
|
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=)
|
rs782326705
|
0.00001
|
NM_000081.4(LYST):c.2363+7A>T
|
|
|
NM_000081.4(LYST):c.5461-3del
|
rs557545474
|
|
NM_000081.4(LYST):c.7461-11_7461-9del
|
rs777633676
|
|
NM_000377.3(WAS):c.470G>A (p.Arg157His)
|
rs369850591
|
|
NM_000377.3(WAS):c.498C>G (p.Ala166=)
|
rs2147264155
|
|
NM_000377.3(WAS):c.560-5dup
|
rs782563873
|
|
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=)
|
rs782547500
|
|
NM_003664.5(AP3B1):c.705T>C (p.Asp235=)
|
rs779084730
|
|
NM_005263.5(GFI1):c.925-40CT[15]
|
rs35896485
|
|
NM_005263.5(GFI1):c.925-40CT[19]
|
rs35896485
|
|