104821750:splice
104821750:variant
goto
c.2829-244G>A
1178953
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
38
114
213
317
a0001 a0002 a0003 a0004 a0005 others(33): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0001c0097 others(109): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(208): Hide
a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 others(312): Hide
HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 others(312): Hide
MODIFIER
chr9
C
T
TogoVar
104786094:splice
104786094:variant
goto
c.6401+204G>T
1266912
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001627 intron_variant
MedGen:C3661900
-
38
112
206
306
a0001 a0002 a0003 a0004 a0005 others(33): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0001c0097 others(107): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(201): Hide
a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 others(301): Hide
HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 others(301): Hide
MODIFIER
chr9
C
A
TogoVar
104786212:splice
104786212:variant
goto
c.6401+86C>A
1185368
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001627 intron_variant
MONDO:MONDO:0008783 MedGen:C0039292 OMIM:205400 Orphanet:31150|MedGen:C3661900
-
38
112
206
306
a0001 a0002 a0003 a0004 a0005 others(33): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0001c0097 others(107): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(201): Hide
a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 others(301): Hide
HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 others(301): Hide
MODIFIER
chr9
G
T
TogoVar
104794135:splice
104794135:variant
goto
c.5506+252C>T
1182140
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
29
62
112
189
a0001 a0002 a0003 a0004 a0005 others(24): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0001c0097 others(57): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(107): Hide
a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 others(184): Hide
HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 others(184): Hide
MODIFIER
chr9
G
A
TogoVar
104794136:splice
104794136:variant
goto
c.5506+251G>T
1179235
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
29
62
112
189
a0001 a0002 a0003 a0004 a0005 others(24): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0001c0097 others(57): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(107): Hide
a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 others(184): Hide
HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 others(184): Hide
MODIFIER
chr9
C
A
TogoVar
104801796:splice
104801796:variant
goto
c.4698+258C>T
1233476
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
18
46
94
166
a0001 a0002 a0003 a0004 a0006 others(13): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0001c0097 others(41): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(89): Hide
a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 others(161): Hide
HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 others(161): Hide
MODIFIER
chr9
G
A
TogoVar
104792253:splice
104792253:variant
goto
c.5758-255A>G
1249311
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
25
48
95
170
a0001 a0003 a0005 a0006 a0008 others(20): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0001c0097 others(43): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(90): Hide
a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 others(165): Hide
HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 others(165): Hide
MODIFIER
chr9
T
C
TogoVar
104782419:splice
104782419:variant
goto
c.*1896G>A
364341
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001624 3_prime_UTR_variant
MedGen:C3661900|MONDO:MONDO:0011393 MedGen:C5231558 OMIM:604091 Orphanet:425|MONDO:MONDO:0008783 MedGen:C0039292 others(2): Hide
-
37
109
177
273
a0001 a0002 a0003 a0004 a0005 others(32): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0001c0097 others(104): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 others(172): Hide
a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 others(268): Hide
HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 others(268): Hide
MODIFIER
chr9
C
T
TogoVar
104928254:splice
104928254:variant
goto
c.-412C>G
369619
Benign
ABCA1:19 LOC105376196:105376196 LOC130002275:130002275
.
MedGen:C3661900|MedGen:C2931838|MONDO:MONDO:0008783 MedGen:C0039292 OMIM:205400 Orphanet:31150
-
34
98
176
244
a0001 a0002 a0003 a0004 a0005 others(29): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0097 a0001c0108 others(93): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(171): Hide
a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 others(239): Hide
HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 others(239): Hide
MODIFIER
chr9
G
C
TogoVar
104928169:splice
104928169:variant
goto
c.-327C>T
364481
Benign
ABCA1:19 LOC105376196:105376196 LOC130002275:130002275
.
MedGen:C2931838|MONDO:MONDO:0008783 MedGen:C0039292 OMIM:205400 Orphanet:31150|MedGen:C3661900
-
20
46
80
109
a0001 a0002 a0003 a0004 a0005 others(15): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0097 a0002c0015 others(41): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(75): Hide
a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 others(104): Hide
HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 others(104): Hide
MODIFIER
chr9
G
A
TogoVar
104927843:splice
104927843:variant
goto
c.-93+92T>C
1288848
Benign
ABCA1:19 LOC105376196:105376196
SO:0001627 intron_variant
MedGen:C3661900
-
20
46
80
108
a0001 a0002 a0003 a0004 a0005 others(15): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0097 a0002c0015 others(41): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(75): Hide
a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0088 others(103): Hide
HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 others(103): Hide
MODIFIER
chr9
A
G
TogoVar
104804596:splice
104804596:variant
goto
c.4559+30G>T
1185369
Benign
ABCA1:19
SO:0001627 intron_variant
MONDO:MONDO:0008783 MedGen:C0039292 OMIM:205400 Orphanet:31150|MedGen:C3661900
-
28
90
178
271
a0001 a0002 a0003 a0004 a0005 others(23): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0001c0097 others(85): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(173): Hide
a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0102 others(266): Hide
HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 others(266): Hide
MODIFIER
chr9
C
A
TogoVar
104862049:splice
104862049:variant
goto
c.422-251_422-250dupGT
1221667
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
20
55
82
116
a0001 a0002 a0003 a0004 a0005 others(15): Hide
a0001c0001 a0001c0005 a0001c0092 a0001c0097 a0001c0108 others(50): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(77): Hide
a0001c0001t0001g0016 a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0176 a0001c0001t0001g0195 others(111): Hide
HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00609.hp1 others(111): Hide
MODIFIER
chr9
T
TAC
TogoVar
104884840:splice
104884840:variant
goto
c.161-272T>C
1237810
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
27
80
130
157
a0001 a0002 a0003 a0004 a0005 others(22): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0002c0011 others(75): Hide
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(125): Hide
a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0003g0089 a0001c0001t0003g0211 a0001c0001t0003g0297 others(152): Hide
HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 others(152): Hide
MODIFIER
chr9
A
G
TogoVar
104884796:splice
104884796:variant
goto
c.161-228C>T
1285942
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
22
52
91
111
a0001 a0002 a0003 a0004 a0005 others(17): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0002c0011 others(47): Hide
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(86): Hide
a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0003g0089 a0001c0001t0003g0211 a0001c0001t0003g0297 others(106): Hide
HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 others(106): Hide
MODIFIER
chr9
G
A
TogoVar
104900213:splice
104900213:variant
goto
c.66+3401C>T
1262580
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
28
84
135
168
a0001 a0002 a0003 a0004 a0005 others(23): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0002c0011 others(79): Hide
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(130): Hide
a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0003g0089 a0001c0001t0003g0211 a0001c0001t0003g0297 others(163): Hide
HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 others(163): Hide
MODIFIER
chr9
G
A
TogoVar
104889245:splice
104889245:variant
goto
c.67-50T>C
1247450
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
18
43
51
56
a0001 a0002 a0003 a0004 a0005 others(13): Hide
a0001c0001 a0001c0005 a0002c0011 a0002c0017 a0002c0024 others(38): Hide
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0043 others(46): Hide
a0001c0001t0001g0082 a0001c0001t0003g0211 a0001c0001t0003g0297 a0001c0001t0004g0021 a0001c0001t0006g0054 others(51): Hide
HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 others(51): Hide
MODIFIER
chr9
A
G
TogoVar
104882799:splice
104882799:variant
goto
c.421+240G>A
1248574
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
22
52
90
106
a0001 a0002 a0003 a0004 a0005 others(17): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0002c0011 others(47): Hide
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(85): Hide
a0001c0001t0001g0082 a0001c0001t0003g0211 a0001c0001t0004g0021 a0001c0001t0004g0194 a0001c0001t0006g0047 others(101): Hide
HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 others(101): Hide
MODIFIER
chr9
C
T
TogoVar
104903458:splice
104903458:variant
goto
c.66+156C>T
1282893
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
21
47
77
93
a0001 a0002 a0003 a0004 a0005 others(16): Hide
a0001c0001 a0001c0005 a0001c0035 a0001c0092 a0002c0011 others(42): Hide
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(72): Hide
a0001c0001t0001g0082 a0001c0001t0003g0211 a0001c0001t0004g0021 a0001c0001t0006g0047 a0001c0001t0006g0054 others(88): Hide
HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 others(88): Hide
MODIFIER
chr9
G
A
TogoVar
104886238:splice
104886238:variant
goto
c.161-1670A>G
1257460
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
14
32
42
45
a0001 a0002 a0003 a0004 a0005 others(9): Hide
a0001c0001 a0001c0005 a0002c0011 a0002c0017 a0002c0057 others(27): Hide
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0043 others(37): Hide
a0001c0001t0001g0082 a0001c0001t0003g0211 a0001c0001t0004g0021 a0001c0001t0006g0054 a0001c0001t0043g0002 others(40): Hide
HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01361.hp1 others(40): Hide
MODIFIER
chr9
T
C
TogoVar
104888931:splice
104888931:variant
goto
c.160+171A>G
1267812
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
15
30
36
39
a0001 a0002 a0003 a0004 a0005 others(10): Hide
a0001c0001 a0001c0005 a0002c0011 a0002c0032 a0002c0037 others(25): Hide
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0043 others(31): Hide
a0001c0001t0001g0082 a0001c0001t0003g0211 a0001c0001t0004g0021 a0001c0001t0006g0054 a0001c0001t0043g0002 others(34): Hide
HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01192.hp1 others(34): Hide
MODIFIER
chr9
T
C
TogoVar
104885374:splice
104885374:variant
goto
c.161-806C>T
9507
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C5193180
-
13
22
28
30
a0001 a0002 a0003 a0004 a0005 others(8): Hide
a0001c0001 a0001c0005 a0002c0011 a0003c0002 a0004c0008 others(17): Hide
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0043 others(23): Hide
a0001c0001t0001g0082 a0001c0001t0003g0211 a0001c0001t0004g0021 a0001c0001t0006g0054 a0001c0001t0043g0002 others(25): Hide
HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01361.hp1 others(25): Hide
MODIFIER
chr9
G
A
TogoVar
104883393:splice
104883393:variant
goto
c.303-236A>G
1265059
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
12
15
21
22
a0001 a0002 a0003 a0004 a0005 others(7): Hide
a0001c0001 a0001c0005 a0002c0011 a0003c0002 a0004c0008 others(10): Hide
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0043 others(16): Hide
a0001c0001t0001g0082 a0001c0001t0003g0211 a0001c0001t0004g0021 a0001c0001t0006g0054 a0001c0001t0043g0002 others(17): Hide
HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01361.hp1 others(17): Hide
MODIFIER
chr9
T
C
TogoVar
104888893:splice
104888893:variant
goto
c.160+209A>G
1183337
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
12
15
21
22
a0001 a0002 a0003 a0004 a0005 others(7): Hide
a0001c0001 a0001c0005 a0002c0011 a0003c0002 a0004c0008 others(10): Hide
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0043 others(16): Hide
a0001c0001t0001g0082 a0001c0001t0003g0211 a0001c0001t0004g0021 a0001c0001t0006g0054 a0001c0001t0043g0002 others(17): Hide
HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp1 HG01243.hp2 others(17): Hide
MODIFIER
chr9
T
C
TogoVar
104861961:splice
104861961:variant
goto
c.422-161T>C
1229375
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
27
66
99
133
a0001 a0002 a0003 a0004 a0005 others(22): Hide
a0001c0001 a0002c0011 a0002c0015 a0002c0017 a0002c0024 others(61): Hide
a0001c0001t0001 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 others(94): Hide
a0001c0001t0001g0082 a0002c0011t0004g0112 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 others(128): Hide
HG00099.hp2 HG00423.hp2 HG00558.hp1 HG00673.hp1 HG00738.hp1 others(128): Hide
MODIFIER
chr9
A
G
TogoVar
104818561:splice
104818561:variant
goto
c.3462+102A>G
1235670
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
12
17
37
44
a0001 a0002 a0003 a0005 a0006 others(7): Hide
a0001c0001 a0002c0011 a0002c0037 a0003c0009 a0005c0026 others(12): Hide
a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0039 a0002c0011t0004 others(32): Hide
a0001c0001t0001g0088 a0001c0001t0001g0176 a0001c0001t0003g0297 a0001c0001t0006g0214 a0001c0001t0039g0246 others(39): Hide
HG00408.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 others(39): Hide
MODIFIER
chr9
T
C
TogoVar
104884738:splice
104884738:variant
goto
c.161-170G>A
1254180
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
13
29
33
37
a0001 a0002 a0004 a0005 a0006 others(8): Hide
a0001c0001 a0001c0005 a0001c0035 a0002c0011 a0002c0015 others(24): Hide
a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0005t0002 a0001c0035t0004 others(28): Hide
a0001c0001t0001g0088 a0001c0001t0003g0089 a0001c0001t0004g0194 a0001c0005t0002g0031 a0001c0035t0004g0011 others(32): Hide
HG00609.hp1 HG00642.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp2 others(32): Hide
MODIFIER
chr9
C
T
TogoVar
104813965:splice
104813965:variant
goto
c.3901+153C>T
1278130
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
15
45
85
104
a0001 a0002 a0004 a0005 a0007 others(10): Hide
a0001c0001 a0002c0011 a0002c0025 a0002c0031 a0002c0037 others(40): Hide
a0001c0001t0001 a0001c0001t0039 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 others(80): Hide
a0001c0001t0001g0088 a0001c0001t0039g0246 a0002c0011t0004g0112 a0002c0011t0004g0263 a0002c0011t0007g0119 others(99): Hide
HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp1 others(99): Hide
MODIFIER
chr9
G
A
TogoVar
104819468:splice
104819468:variant
goto
c.3241+118T>G
1263599
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
16
36
75
95
a0001 a0002 a0003 a0004 a0005 others(11): Hide
a0001c0001 a0001c0005 a0001c0097 a0001c0108 a0002c0011 others(31): Hide
a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0023 a0001c0001t0049 others(70): Hide
a0001c0001t0001g0203 a0001c0001t0001g0218 a0001c0001t0002g0233 a0001c0001t0006g0214 a0001c0001t0006g0225 others(90): Hide
HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 others(90): Hide
MODIFIER
chr9
A
C
TogoVar
104782875:splice
104782875:variant
goto
c.*1440C>T
364351
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001624 3_prime_UTR_variant
MONDO:MONDO:0008783 MedGen:C0039292 OMIM:205400 Orphanet:31150|MedGen:C3661900|MONDO:MONDO:0011393 MedGen:C5231558 others(2): Hide
-
23
67
112
177
a0001 a0002 a0003 a0004 a0005 others(18): Hide
a0001c0001 a0001c0005 a0001c0092 a0001c0108 a0002c0011 others(62): Hide
a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 others(107): Hide
a0001c0001t0002g0074 a0001c0001t0002g0137 a0001c0001t0002g0233 a0001c0001t0003g0086 a0001c0001t0003g0089 others(172): Hide
HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 others(172): Hide
MODIFIER
chr9
G
A
TogoVar
104783622:splice
104783622:variant
goto
c.*693C>T
364361
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001624 3_prime_UTR_variant
MONDO:MONDO:0008783 MedGen:C0039292 OMIM:205400 Orphanet:31150|MedGen:C3661900|MONDO:MONDO:0011393 MedGen:C5231558 others(2): Hide
-
23
67
111
175
a0001 a0002 a0003 a0004 a0005 others(18): Hide
a0001c0001 a0001c0005 a0001c0092 a0001c0108 a0002c0011 others(62): Hide
a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 others(106): Hide
a0001c0001t0002g0074 a0001c0001t0002g0137 a0001c0001t0002g0233 a0001c0001t0003g0086 a0001c0001t0003g0089 others(170): Hide
HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 others(170): Hide
MODIFIER
chr9
G
A
TogoVar
104782848:splice
104782848:variant
goto
c.*1466delT
364350
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001624 3_prime_UTR_variant
MONDO:MONDO:0008783 MedGen:C0039292 OMIM:205400 Orphanet:31150|MedGen:C3661900|MedGen:C2931838
-
22
57
91
151
a0001 a0002 a0003 a0004 a0005 others(17): Hide
a0001c0001 a0001c0005 a0001c0108 a0002c0015 a0002c0017 others(52): Hide
a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0001c0001t0039 others(86): Hide
a0001c0001t0002g0074 a0001c0001t0002g0137 a0001c0001t0002g0233 a0001c0001t0003g0086 a0001c0001t0003g0089 others(146): Hide
HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 others(146): Hide
MODIFIER
chr9
TA
T
TogoVar
104781415:splice
104781415:variant
goto
c.*2897_*2899delGTT
1287228
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001624 3_prime_UTR_variant
MedGen:C3661900
-
18
34
46
79
a0001 a0002 a0003 a0004 a0005 others(13): Hide
a0001c0001 a0001c0005 a0001c0108 a0002c0015 a0002c0017 others(29): Hide
a0001c0001t0002 a0001c0001t0043 a0001c0001t0052 a0001c0005t0002 a0001c0005t0010 others(41): Hide
a0001c0001t0002g0074 a0001c0001t0002g0137 a0001c0001t0002g0233 a0001c0001t0043g0002 a0001c0001t0052g0318 others(74): Hide
HG00099.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 others(74): Hide
MODIFIER
chr9
TAAC
T
TogoVar
104785341:splice
104785341:variant
goto
c.6645+55G>C
1225848
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001627 intron_variant
MedGen:C3661900
-
21
45
63
98
a0001 a0002 a0003 a0004 a0005 others(16): Hide
a0001c0001 a0001c0005 a0001c0108 a0002c0011 a0002c0015 others(40): Hide
a0001c0001t0002 a0001c0001t0052 a0001c0005t0002 a0001c0005t0010 a0001c0108t0002 others(58): Hide
a0001c0001t0002g0074 a0001c0001t0002g0233 a0001c0001t0052g0318 a0001c0005t0002g0017 a0001c0005t0002g0031 others(93): Hide
HG00099.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp1 others(93): Hide
MODIFIER
chr9
C
G
TogoVar
104788358:splice
104788358:variant
goto
c.6069+68T>C
1262933
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001627 intron_variant
MedGen:C3661900
-
21
44
81
124
a0001 a0002 a0003 a0004 a0005 others(16): Hide
a0001c0001 a0001c0005 a0001c0108 a0002c0011 a0002c0025 others(39): Hide
a0001c0001t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0010 others(76): Hide
a0001c0001t0002g0233 a0001c0005t0001g0050 a0001c0005t0002g0017 a0001c0005t0002g0031 a0001c0005t0002g0062 others(119): Hide
HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 others(119): Hide
MODIFIER
chr9
A
G
TogoVar
104831149:splice
104831149:variant
goto
c.1716-49dupT
1263628
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
11
26
28
35
a0001 a0002 a0003 a0004 a0006 others(6): Hide
a0001c0001 a0001c0005 a0002c0011 a0002c0015 a0002c0017 others(21): Hide
a0001c0001t0003 a0001c0001t0006 a0001c0005t0002 a0002c0011t0004 a0002c0015t0002 others(23): Hide
a0001c0001t0003g0089 a0001c0001t0006g0054 a0001c0005t0002g0123 a0002c0011t0004g0112 a0002c0011t0004g0213 others(30): Hide
HG00558.hp1 HG01109.hp1 HG01168.hp1 HG01243.hp2 HG01515.hp2 others(30): Hide
MODIFIER
chr9
T
TA
TogoVar
104831149:splice
104831149:variant
goto
c.1716-49delT
1285869
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
15
36
48
58
a0001 a0002 a0004 a0005 a0009 others(10): Hide
a0001c0001 a0001c0035 a0001c0108 a0001c0109 a0002c0017 others(31): Hide
a0001c0001t0006 a0001c0001t0011 a0001c0001t0049 a0001c0035t0009 a0001c0108t0002 others(43): Hide
a0001c0001t0006g0225 a0001c0001t0011g0085 a0001c0001t0049g0034 a0001c0035t0009g0071 a0001c0108t0002g0113 others(53): Hide
HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00741.hp1 HG01070.hp1 others(53): Hide
MODIFIER
chr9
TA
T
TogoVar
104782404:splice
104782404:variant
goto
c.*1911C>T
364339
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001624 3_prime_UTR_variant
MedGen:C3661900|MONDO:MONDO:0011393 MedGen:C5231558 OMIM:604091 Orphanet:425|MONDO:MONDO:0008783 MedGen:C0039292 others(2): Hide
-
10
19
22
25
a0001 a0002 a0003 a0004 a0006 others(5): Hide
a0001c0001 a0001c0092 a0002c0011 a0002c0017 a0002c0025 others(14): Hide
a0001c0001t0007 a0001c0001t0012 a0001c0092t0012 a0002c0011t0007 a0002c0011t0012 others(17): Hide
a0001c0001t0007g0183 a0001c0001t0012g0039 a0001c0001t0012g0144 a0001c0092t0012g0220 a0002c0011t0007g0119 others(20): Hide
HG00558.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp2 HG01884.hp2 others(20): Hide
MODIFIER
chr9
G
A
TogoVar
104786181:splice
104786181:variant
goto
c.6401+117A>G
1287036
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001627 intron_variant
MedGen:C3661900
-
15
36
61
77
a0001 a0002 a0003 a0004 a0005 others(10): Hide
a0001c0001 a0001c0005 a0002c0011 a0002c0017 a0002c0025 others(31): Hide
a0001c0001t0012 a0001c0005t0004 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 others(56): Hide
a0001c0001t0012g0144 a0001c0005t0004g0167 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 others(72): Hide
HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00621.hp2 HG00673.hp2 others(72): Hide
MODIFIER
chr9
T
C
TogoVar
104786285:splice
104786285:variant
goto
c.6401+13A>G
364379
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001627 intron_variant
MedGen:C3661900|MONDO:MONDO:0011393 MedGen:C5231558 OMIM:604091 Orphanet:425|MedGen:CN169374|MONDO:MONDO:0008783 MedGen:C0039292 others(2): Hide
-
12
19
41
51
a0001 a0002 a0003 a0004 a0005 others(7): Hide
a0001c0001 a0001c0005 a0002c0011 a0002c0037 a0003c0002 others(14): Hide
a0001c0001t0012 a0001c0005t0004 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 others(36): Hide
a0001c0001t0012g0144 a0001c0005t0004g0167 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 others(46): Hide
HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00621.hp2 HG00673.hp2 others(46): Hide
MODIFIER
chr9
T
C
TogoVar
104786537:splice
104786537:variant
goto
c.6309-147T>C
1246082
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001627 intron_variant
MedGen:C3661900
-
12
19
41
51
a0001 a0002 a0003 a0004 a0005 others(7): Hide
a0001c0001 a0001c0005 a0002c0011 a0002c0037 a0003c0002 others(14): Hide
a0001c0001t0012 a0001c0005t0004 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 others(36): Hide
a0001c0001t0012g0144 a0001c0005t0004g0167 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 others(46): Hide
HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00621.hp2 HG00673.hp2 others(46): Hide
MODIFIER
chr9
A
G
TogoVar
104791788:splice
104791788:variant
goto
c.5820+148G>A
1271650
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
16
54
95
118
a0001 a0002 a0003 a0004 a0005 others(11): Hide
a0001c0005 a0002c0011 a0002c0015 a0002c0017 a0002c0024 others(49): Hide
a0001c0005t0004 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 others(90): Hide
a0001c0005t0004g0167 a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 others(113): Hide
HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 others(113): Hide
MODIFIER
chr9
C
T
TogoVar
104792240:splice
104792240:variant
goto
c.5758-242A>G
1238421
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
16
54
95
118
a0001 a0002 a0003 a0004 a0005 others(11): Hide
a0001c0005 a0002c0011 a0002c0015 a0002c0017 a0002c0024 others(49): Hide
a0001c0005t0004 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 others(90): Hide
a0001c0005t0004g0167 a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 others(113): Hide
HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 others(113): Hide
MODIFIER
chr9
T
C
TogoVar
104790904:splice
104790904:variant
goto
c.5927+18T>C
928662
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008783 MedGen:C0039292 OMIM:205400 Orphanet:31150
-
18
56
97
122
a0001 a0002 a0003 a0004 a0005 others(13): Hide
a0001c0005 a0002c0011 a0002c0015 a0002c0017 a0002c0024 others(51): Hide
a0001c0005t0004 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 others(92): Hide
a0001c0005t0004g0167 a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 others(117): Hide
HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 others(117): Hide
MODIFIER
chr9
A
G
TogoVar
104791197:splice
104791197:variant
goto
c.5821-169T>A
1180858
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
17
54
95
120
a0001 a0002 a0003 a0004 a0005 others(12): Hide
a0001c0005 a0002c0011 a0002c0015 a0002c0017 a0002c0024 others(49): Hide
a0001c0005t0004 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 others(90): Hide
a0001c0005t0004g0167 a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 others(115): Hide
HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 others(115): Hide
MODIFIER
chr9
A
T
TogoVar
104790643:splice
104790643:variant
goto
c.5927+279T>C
1274636
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001627 intron_variant
MedGen:C3661900
-
15
52
93
118
a0001 a0002 a0003 a0004 a0005 others(10): Hide
a0001c0005 a0002c0011 a0002c0015 a0002c0017 a0002c0024 others(47): Hide
a0001c0005t0004 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 others(88): Hide
a0001c0005t0004g0167 a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 others(113): Hide
HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 others(113): Hide
MODIFIER
chr9
A
G
TogoVar
104790658:splice
104790658:variant
goto
c.5927+264T>C
1221708
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001627 intron_variant
MedGen:C3661900
-
15
52
93
118
a0001 a0002 a0003 a0004 a0005 others(10): Hide
a0001c0005 a0002c0011 a0002c0015 a0002c0017 a0002c0024 others(47): Hide
a0001c0005t0004 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 others(88): Hide
a0001c0005t0004g0167 a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 others(113): Hide
HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 others(113): Hide
MODIFIER
chr9
A
G
TogoVar
104791243:splice
104791243:variant
goto
c.5821-215T>C
1261505
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
16
53
93
116
a0001 a0002 a0003 a0004 a0005 others(11): Hide
a0001c0005 a0002c0011 a0002c0015 a0002c0017 a0002c0024 others(48): Hide
a0001c0005t0004 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 others(88): Hide
a0001c0005t0004g0167 a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 others(111): Hide
HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 others(111): Hide
MODIFIER
chr9
A
G
TogoVar
104793430:splice
104793430:variant
goto
c.5507-130G>C
1231674
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
13
40
72
93
a0001 a0002 a0003 a0004 a0005 others(8): Hide
a0001c0005 a0002c0011 a0002c0017 a0002c0024 a0002c0025 others(35): Hide
a0001c0005t0004 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 others(67): Hide
a0001c0005t0004g0167 a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 others(88): Hide
HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp2 others(88): Hide
MODIFIER
chr9
C
G
TogoVar
104792547:splice
104792547:variant
goto
c.5757+239A>C
1224568
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
12
27
37
43
a0001 a0002 a0003 a0004 a0005 others(7): Hide
a0001c0005 a0002c0011 a0002c0015 a0002c0017 a0002c0025 others(22): Hide
a0001c0005t0004 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0015t0031 others(32): Hide
a0001c0005t0004g0167 a0002c0011t0004g0112 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 others(38): Hide
HG00423.hp1 HG01255.hp2 HG01257.hp2 HG01952.hp1 HG01952.hp2 others(38): Hide
MODIFIER
chr9
T
G
TogoVar
104793025:splice
104793025:variant
goto
c.5637-119C>T
1261334
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
12
27
37
43
a0001 a0002 a0003 a0004 a0005 others(7): Hide
a0001c0005 a0002c0011 a0002c0015 a0002c0017 a0002c0025 others(22): Hide
a0001c0005t0004 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0015t0031 others(32): Hide
a0001c0005t0004g0167 a0002c0011t0004g0112 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 others(38): Hide
HG00423.hp1 HG01255.hp2 HG01257.hp2 HG01952.hp1 HG01952.hp2 others(38): Hide
MODIFIER
chr9
G
A
TogoVar
104861748:splice
104861748:variant
goto
c.474G>Ap.Leu158Leu
364460
Benign
ABCA1:19
SO:0001819 synonymous_variant
MONDO:MONDO:0011393 MedGen:C5231558 OMIM:604091 Orphanet:425|MONDO:MONDO:0008783 MedGen:C0039292 others(2): Hide
-
21
50
100
148
a0001 a0002 a0003 a0004 a0005 others(16): Hide
a0001c0035 a0002c0011 a0002c0017 a0002c0024 a0002c0025 others(45): Hide
a0001c0035t0004 a0001c0035t0009 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 others(95): Hide
a0001c0035t0004g0011 a0001c0035t0009g0071 a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 others(143): Hide
HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00621.hp1 others(143): Hide
LOW
chr9
C
T
TogoVar
104861842:splice
104861842:variant
goto
c.422-43delT
1281435
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
24
51
100
148
a0001 a0002 a0003 a0004 a0005 others(19): Hide
a0001c0035 a0002c0011 a0002c0017 a0002c0024 a0002c0025 others(46): Hide
a0001c0035t0004 a0001c0035t0009 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 others(95): Hide
a0001c0035t0004g0011 a0001c0035t0009g0071 a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 others(143): Hide
HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00621.hp1 others(143): Hide
MODIFIER
chr9
CA
C
TogoVar
104830901:splice
104830901:variant
goto
c.1892+24T>A
1232269
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
32
92
163
223
a0001 a0002 a0003 a0004 a0005 others(27): Hide
a0001c0092 a0001c0108 a0001c0109 a0002c0011 a0002c0015 others(87): Hide
a0001c0092t0012 a0001c0108t0002 a0001c0109t0001 a0002c0011t0004 a0002c0011t0007 others(158): Hide
a0001c0092t0012g0220 a0001c0108t0002g0113 a0001c0109t0001g0232 a0002c0011t0004g0112 a0002c0011t0004g0213 others(218): Hide
HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 others(218): Hide
MODIFIER
chr9
A
T
TogoVar
104837157:splice
104837157:variant
goto
c.1195-62_1195-61insG
1237011
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
33
92
163
222
a0001 a0002 a0003 a0004 a0005 others(28): Hide
a0001c0092 a0001c0108 a0001c0109 a0002c0011 a0002c0015 others(87): Hide
a0001c0092t0012 a0001c0108t0002 a0001c0109t0001 a0002c0011t0004 a0002c0011t0007 others(158): Hide
a0001c0092t0012g0220 a0001c0108t0002g0113 a0001c0109t0001g0232 a0002c0011t0004g0112 a0002c0011t0004g0213 others(217): Hide
HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 others(217): Hide
MODIFIER
chr9
G
GC
TogoVar
104828991:splice
104828991:variant
goto
c.2040C>Ap.Ile680Ile
364438
Benign
ABCA1:19
SO:0001819 synonymous_variant
MedGen:CN230736|MONDO:MONDO:0011393 MedGen:C5231558 OMIM:604091 Orphanet:425|MONDO:MONDO:0008783 MedGen:C0039292 others(2): Hide
-
16
47
96
139
a0001 a0002 a0003 a0006 a0007 others(11): Hide
a0001c0092 a0002c0011 a0002c0015 a0002c0017 a0002c0024 others(42): Hide
a0001c0092t0012 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 others(91): Hide
a0001c0092t0012g0220 a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 others(134): Hide
HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 others(134): Hide
LOW
chr9
G
T
TogoVar
104837200:splice
104837200:variant
goto
c.1195-104A>G
1246636
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
19
46
92
131
a0001 a0002 a0003 a0004 a0006 others(14): Hide
a0001c0092 a0002c0011 a0002c0015 a0002c0017 a0002c0025 others(41): Hide
a0001c0092t0012 a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 others(87): Hide
a0001c0092t0012g0220 a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 others(126): Hide
HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 others(126): Hide
MODIFIER
chr9
T
C
TogoVar
104831149:splice
104831149:variant
goto
c.1716-50_1716-49dupTT
1235331
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
13
33
63
83
a0001 a0002 a0003 a0006 a0007 others(8): Hide
a0001c0092 a0002c0011 a0002c0015 a0002c0017 a0002c0025 others(28): Hide
a0001c0092t0012 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0002c0015t0013 others(58): Hide
a0001c0092t0012g0220 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 a0002c0011t0020g0171 others(78): Hide
HG00099.hp2 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 others(78): Hide
MODIFIER
chr9
T
TAA
TogoVar
104840532:splice
104840532:variant
goto
c.814-14dupA
364453
Benign
ABCA1:19
SO:0001627 intron_variant
MONDO:MONDO:0011393 MedGen:C5231558 OMIM:604091 Orphanet:425|MONDO:MONDO:0008783 MedGen:C0039292 others(2): Hide
-
13
25
52
73
a0001 a0002 a0003 a0004 a0006 others(8): Hide
a0001c0092 a0002c0017 a0002c0025 a0002c0037 a0002c0057 others(20): Hide
a0001c0092t0012 a0002c0017t0015 a0002c0017t0026 a0002c0025t0007 a0002c0025t0008 others(47): Hide
a0001c0092t0012g0220 a0002c0017t0015g0101 a0002c0017t0026g0163 a0002c0017t0026g0276 a0002c0025t0007g0237 others(68): Hide
HG00408.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG01169.hp1 others(68): Hide
MODIFIER
chr9
A
AT
TogoVar
104826853:splice
104826853:variant
goto
c.2337+95T>A
1177848
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
26
74
138
191
a0002 a0003 a0004 a0005 a0006 others(21): Hide
a0002c0011 a0002c0015 a0002c0017 a0002c0024 a0002c0025 others(69): Hide
a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0002c0015t0002 others(133): Hide
a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 a0002c0011t0007g0247 others(186): Hide
HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 others(186): Hide
MODIFIER
chr9
A
T
TogoVar
104824472:splice
104824472:variant
goto
c.2649A>Gp.Ile883Met
364426
Benign
ABCA1:19
SO:0001583 missense_variant
MONDO:MONDO:0008783 MedGen:C0039292 OMIM:205400 Orphanet:31150|MedGen:CN230736|MONDO:MONDO:0011393 MedGen:C5231558 others(2): Hide
-
17
52
102
145
a0002 a0003 a0006 a0007 a0011 others(12): Hide
a0002c0011 a0002c0015 a0002c0017 a0002c0024 a0002c0025 others(47): Hide
a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0002c0015t0002 others(97): Hide
a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 a0002c0011t0007g0247 others(140): Hide
HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 others(140): Hide
MODERATE
chr9
T
C
TogoVar
104827299:splice
104827299:variant
goto
c.2116-130T>A
1273918
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
15
46
95
138
a0002 a0003 a0006 a0007 a0011 others(10): Hide
a0002c0011 a0002c0015 a0002c0017 a0002c0024 a0002c0025 others(41): Hide
a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0002c0015t0002 others(90): Hide
a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 a0002c0011t0007g0247 others(133): Hide
HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 others(133): Hide
MODIFIER
chr9
A
T
TogoVar
104827349:splice
104827349:variant
goto
c.2116-180G>A
1256761
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
15
46
95
138
a0002 a0003 a0006 a0007 a0011 others(10): Hide
a0002c0011 a0002c0015 a0002c0017 a0002c0024 a0002c0025 others(41): Hide
a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0002c0015t0002 others(90): Hide
a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 a0002c0011t0007g0247 others(133): Hide
HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 others(133): Hide
MODIFIER
chr9
C
T
TogoVar
104802395:splice
104802395:variant
goto
c.4593-236A>G
1238496
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
12
24
35
44
a0002 a0004 a0005 a0007 a0008 others(7): Hide
a0002c0011 a0002c0017 a0002c0025 a0002c0031 a0002c0037 others(19): Hide
a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0017t0015 a0002c0025t0015 others(30): Hide
a0002c0011t0004g0112 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 a0002c0017t0015g0101 others(39): Hide
HG00423.hp1 HG00642.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp2 others(39): Hide
MODIFIER
chr9
T
C
TogoVar
104794512:splice
104794512:variant
goto
c.5383-3delT
364390
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900|MedGen:C2931838|MedGen:CN169374|MONDO:MONDO:0008783 MedGen:C0039292 OMIM:205400 Orphanet:31150
-
13
22
33
40
a0002 a0003 a0004 a0005 a0007 others(8): Hide
a0002c0011 a0002c0017 a0002c0025 a0002c0031 a0002c0037 others(17): Hide
a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0017t0015 a0002c0025t0015 others(28): Hide
a0002c0011t0004g0112 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 a0002c0017t0015g0101 others(35): Hide
HG00423.hp1 HG00642.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp2 others(35): Hide
LOW
chr9
TA
T
TogoVar
104817599:splice
104817599:variant
goto
c.3463-195G>A
1206913
Likely_benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
4
8
13
15
a0002 a0005 a0008 a0012
a0002c0011 a0002c0025 a0002c0037 a0005c0014 a0005c0084 others(3): Hide
a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0025t0015 a0002c0037t0001 others(8): Hide
a0002c0011t0004g0112 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 a0002c0025t0015g0283 others(10): Hide
HG00423.hp1 HG01255.hp2 HG01257.hp2 HG01496.hp1 HG02027.hp1 others(10): Hide
MODIFIER
chr9
C
T
TogoVar
104828801:splice
104828801:variant
goto
c.2115+115C>A
1278284
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
3
9
23
40
a0002 a0003 a0012
a0002c0011 a0002c0032 a0002c0037 a0002c0059 a0003c0002 others(4): Hide
a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0002c0032t0001 others(18): Hide
a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 others(35): Hide
HG00099.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 others(35): Hide
MODIFIER
chr9
G
T
TogoVar
104828835:splice
104828835:variant
goto
c.2115+81A>G
1280071
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
3
9
23
40
a0002 a0003 a0012
a0002c0011 a0002c0032 a0002c0037 a0002c0059 a0003c0002 others(4): Hide
a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0002c0032t0001 others(18): Hide
a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 others(35): Hide
HG00099.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 others(35): Hide
MODIFIER
chr9
T
C
TogoVar
104830689:splice
104830689:variant
goto
c.1892+235delT
1179891
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
3
9
23
40
a0002 a0003 a0012
a0002c0011 a0002c0032 a0002c0037 a0002c0059 a0003c0002 others(4): Hide
a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0002c0032t0001 others(18): Hide
a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 others(35): Hide
HG00099.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 others(35): Hide
MODIFIER
chr9
CA
C
TogoVar
104824239:splice
104824239:variant
goto
c.2656+222_2656+225delCTTT
1233681
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
3
8
22
38
a0002 a0003 a0012
a0002c0011 a0002c0037 a0002c0059 a0003c0002 a0003c0009 others(3): Hide
a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0002c0037t0011 others(17): Hide
a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 others(33): Hide
HG00099.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 others(33): Hide
MODIFIER
chr9
CAAAG
C
TogoVar
104802185:splice
104802185:variant
goto
c.4593-26G>C
1297172
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
7
17
31
39
a0002 a0004 a0005 a0007 a0008 others(2): Hide
a0002c0011 a0002c0037 a0004c0008 a0004c0113 a0005c0014 others(12): Hide
a0002c0011t0004 a0002c0011t0020 a0002c0037t0011 a0004c0008t0006 a0004c0008t0028 others(26): Hide
a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0020g0171 a0002c0037t0011g0116 a0004c0008t0006g0202 others(34): Hide
HG00408.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01081.hp2 others(34): Hide
MODIFIER
chr9
C
G
TogoVar
104796702:splice
104796702:variant
goto
c.5122-278G>T
1280267
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
8
13
27
35
a0002 a0004 a0005 a0007 a0008 others(3): Hide
a0002c0011 a0002c0037 a0004c0008 a0005c0014 a0005c0026 others(8): Hide
a0002c0011t0004 a0002c0011t0020 a0002c0037t0011 a0004c0008t0006 a0004c0008t0028 others(22): Hide
a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0020g0171 a0002c0037t0011g0116 a0004c0008t0006g0202 others(30): Hide
HG00408.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01169.hp1 others(30): Hide
MODIFIER
chr9
C
A
TogoVar
104794512:splice
104794512:variant
goto
c.5383-3dupT
1287479
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
17
43
61
80
a0002 a0004 a0005 a0007 a0008 others(12): Hide
a0002c0011 a0002c0024 a0002c0032 a0002c0033 a0002c0037 others(38): Hide
a0002c0011t0004 a0002c0024t0008 a0002c0032t0001 a0002c0033t0002 a0002c0033t0032 others(56): Hide
a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0024t0008g0109 others(75): Hide
HG00408.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01081.hp2 others(75): Hide
LOW
chr9
T
TA
TogoVar
104794512:splice
104794512:variant
goto
c.5383-4_5383-3dupTT
928609
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:CN169374|MedGen:C3661900
-
6
17
22
24
a0002 a0004 a0005 a0008 a0012 others(1): Hide
a0002c0015 a0002c0017 a0002c0025 a0002c0058 a0002c0059 others(12): Hide
a0002c0015t0002 a0002c0015t0004 a0002c0015t0013 a0002c0015t0031 a0002c0017t0002 others(17): Hide
a0002c0015t0002g0315 a0002c0015t0004g0004 a0002c0015t0013g0305 a0002c0015t0013g0306 a0002c0015t0031g0084 others(19): Hide
HG01099.hp1 HG01106.hp1 HG01192.hp2 HG02109.hp2 HG02258.hp1 others(19): Hide
LOW
chr9
T
TAA
TogoVar
104816120:splice
104816120:variant
goto
c.3738+23G>A
1174247
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
5
12
16
18
a0002 a0004 a0005 a0012 a0029
a0002c0015 a0002c0025 a0002c0037 a0002c0059 a0004c0044 others(7): Hide
a0002c0015t0002 a0002c0015t0004 a0002c0015t0013 a0002c0025t0007 a0002c0037t0011 others(11): Hide
a0002c0015t0002g0315 a0002c0015t0004g0004 a0002c0015t0013g0305 a0002c0015t0013g0306 a0002c0025t0007g0237 others(13): Hide
HG00673.hp2 HG01099.hp1 HG01106.hp1 HG01192.hp2 HG02109.hp2 others(13): Hide
MODIFIER
chr9
C
T
TogoVar
104862049:splice
104862049:variant
goto
c.422-253_422-250dupGTGT
1263958
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
9
18
18
19
a0002 a0005 a0006 a0012 a0018 others(4): Hide
a0002c0015 a0002c0032 a0002c0074 a0002c0075 a0002c0081 others(13): Hide
a0002c0015t0004 a0002c0032t0001 a0002c0074t0027 a0002c0075t0027 a0002c0081t0013 others(13): Hide
a0002c0015t0004g0004 a0002c0032t0001g0317 a0002c0074t0027g0290 a0002c0075t0027g0150 a0002c0081t0013g0277 others(14): Hide
HG00558.hp2 HG01109.hp1 HG01243.hp2 HG01891.hp1 HG02055.hp2 others(14): Hide
MODIFIER
chr9
T
TACAC
TogoVar
104832005:splice
104832005:variant
goto
c.1510-178A>G
1284062
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
5
8
9
9
a0002 a0012 a0024 a0032 a0038
a0002c0015 a0002c0033 a0002c0046 a0002c0081 a0012c0105 others(3): Hide
a0002c0015t0031 a0002c0033t0002 a0002c0033t0032 a0002c0046t0002 a0002c0081t0013 others(4): Hide
a0002c0015t0031g0084 a0002c0033t0002g0301 a0002c0033t0032g0024 a0002c0046t0002g0154 a0002c0081t0013g0277 others(4): Hide
HG02280.hp1 HG02451.hp1 HG02647.hp2 HG02818.hp1 HG03098.hp2 others(4): Hide
MODIFIER
chr9
T
C
TogoVar
104814541:splice
104814541:variant
goto
c.3739-66C>T
1225082
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
7
16
18
23
a0002 a0004 a0005 a0008 a0012 others(2): Hide
a0002c0017 a0002c0024 a0002c0032 a0002c0074 a0002c0075 others(11): Hide
a0002c0017t0002 a0002c0017t0015 a0002c0017t0026 a0002c0024t0008 a0002c0032t0001 others(13): Hide
a0002c0017t0002g0271 a0002c0017t0015g0101 a0002c0017t0026g0163 a0002c0017t0026g0276 a0002c0024t0008g0003 others(18): Hide
HG01884.hp2 HG01891.hp2 HG01952.hp2 HG02257.hp1 HG02257.hp2 others(18): Hide
MODIFIER
chr9
G
A
TogoVar
104813000:splice
104813000:variant
goto
c.3902-278C>A
1248706
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
6
15
17
22
a0002 a0004 a0005 a0008 a0012 others(1): Hide
a0002c0017 a0002c0024 a0002c0032 a0002c0074 a0002c0075 others(10): Hide
a0002c0017t0002 a0002c0017t0015 a0002c0017t0026 a0002c0024t0008 a0002c0032t0001 others(12): Hide
a0002c0017t0002g0271 a0002c0017t0015g0101 a0002c0017t0026g0163 a0002c0017t0026g0276 a0002c0024t0008g0003 others(17): Hide
HG01884.hp2 HG01891.hp2 HG01952.hp2 HG02257.hp1 HG02257.hp2 others(17): Hide
MODIFIER
chr9
G
T
TogoVar
104816197:splice
104816197:variant
goto
c.3684G>Ap.Arg1228Arg
364412
Benign
ABCA1:19
SO:0001819 synonymous_variant
MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0008783 MedGen:C0039292 OMIM:205400 Orphanet:31150|MONDO:MONDO:0011393 MedGen:C5231558 others(2): Hide
-
6
14
16
21
a0002 a0004 a0005 a0008 a0012 others(1): Hide
a0002c0017 a0002c0024 a0002c0032 a0002c0074 a0002c0075 others(9): Hide
a0002c0017t0002 a0002c0017t0015 a0002c0017t0026 a0002c0024t0008 a0002c0032t0001 others(11): Hide
a0002c0017t0002g0271 a0002c0017t0015g0101 a0002c0017t0026g0163 a0002c0017t0026g0276 a0002c0024t0008g0003 others(16): Hide
HG01884.hp2 HG01891.hp2 HG01952.hp2 HG02257.hp1 HG02257.hp2 others(16): Hide
LOW
chr9
C
T
TogoVar
104827429:splice
104827429:variant
goto
c.2116-260G>A
1245170
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
3
9
10
17
a0002 a0011 a0012
a0002c0017 a0002c0024 a0002c0025 a0002c0031 a0002c0057 others(4): Hide
a0002c0017t0002 a0002c0024t0008 a0002c0025t0008 a0002c0031t0001 a0002c0057t0001 others(5): Hide
a0002c0017t0002g0271 a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0024t0008g0109 a0002c0025t0008g0285 others(12): Hide
HG01952.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02486.hp2 others(12): Hide
MODIFIER
chr9
C
T
TogoVar
104821357:splice
104821357:variant
goto
c.2960+18G>A
918148
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:CN169374|MedGen:C3661900
-
4
6
6
7
a0002 a0003 a0011 a0012
a0002c0017 a0002c0037 a0002c0058 a0003c0077 a0011c0010 others(1): Hide
a0002c0017t0026 a0002c0037t0001 a0002c0058t0007 a0003c0077t0005 a0011c0010t0005 others(1): Hide
a0002c0017t0026g0163 a0002c0017t0026g0276 a0002c0037t0001g0275 a0002c0058t0007g0143 a0003c0077t0005g0312 others(2): Hide
HG01884.hp2 HG01952.hp2 HG02257.hp2 HG02280.hp2 HG02886.hp1 others(2): Hide
MODIFIER
chr9
C
T
TogoVar
104798366:splice
104798366:variant
goto
c.5121+55T>C
1238735
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
17
27
30
39
a0002 a0004 a0005 a0008 a0011 others(12): Hide
a0002c0017 a0002c0057 a0002c0074 a0002c0078 a0002c0085 others(22): Hide
a0002c0017t0026 a0002c0057t0001 a0002c0074t0027 a0002c0078t0001 a0002c0085t0008 others(25): Hide
a0002c0017t0026g0163 a0002c0017t0026g0276 a0002c0057t0001g0148 a0002c0074t0027g0290 a0002c0078t0001g0216 others(34): Hide
HG01884.hp1 HG01884.hp2 HG01952.hp2 HG02109.hp1 HG02145.hp1 others(34): Hide
MODIFIER
chr9
A
G
TogoVar
104795968:splice
104795968:variant
goto
c.5382+85T>C
1224553
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
4
7
7
8
a0002 a0004 a0005 a0012
a0002c0017 a0002c0074 a0004c0107 a0005c0051 a0005c0082 others(2): Hide
a0002c0017t0026 a0002c0074t0027 a0004c0107t0002 a0005c0051t0019 a0005c0082t0002 others(2): Hide
a0002c0017t0026g0163 a0002c0017t0026g0276 a0002c0074t0027g0290 a0004c0107t0002g0236 a0005c0051t0019g0164 others(3): Hide
HG01884.hp2 HG01952.hp2 HG02257.hp2 HG02922.hp1 HG02970.hp1 others(3): Hide
MODIFIER
chr9
A
G
TogoVar
104798143:splice
104798143:variant
goto
c.5121+278C>G
1265681
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
4
5
5
6
a0002 a0004 a0005 a0012
a0002c0017 a0004c0107 a0005c0051 a0005c0082 a0012c0093
a0002c0017t0026 a0004c0107t0002 a0005c0051t0019 a0005c0082t0002 a0012c0093t0001
a0002c0017t0026g0163 a0002c0017t0026g0276 a0004c0107t0002g0236 a0005c0051t0019g0164 a0005c0082t0002g0282 others(1): Hide
HG01884.hp2 HG01952.hp2 HG02257.hp2 HG02922.hp1 HG02970.hp1 others(1): Hide
MODIFIER
chr9
G
C
TogoVar
104788364:splice
104788364:variant
goto
c.6069+61delT
1264960
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001627 intron_variant
MedGen:C3661900
-
9
12
12
16
a0002 a0004 a0005 a0008 a0012 others(4): Hide
a0002c0024 a0002c0032 a0004c0008 a0005c0014 a0005c0026 others(7): Hide
a0002c0024t0008 a0002c0032t0001 a0004c0008t0003 a0005c0014t0011 a0005c0026t0024 others(7): Hide
a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0024t0008g0109 a0002c0032t0001g0025 a0002c0032t0001g0317 others(11): Hide
HG01081.hp2 HG01109.hp1 HG01243.hp2 HG02083.hp1 HG02129.hp2 others(11): Hide
MODIFIER
chr9
CA
C
TogoVar
104788402:splice
104788402:variant
goto
c.6069+24G>C
1241742
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001627 intron_variant
MedGen:C3661900
-
7
9
9
12
a0002 a0005 a0008 a0012 a0018 others(2): Hide
a0002c0024 a0002c0032 a0005c0026 a0008c0048 a0012c0105 others(4): Hide
a0002c0024t0008 a0002c0032t0001 a0005c0026t0024 a0008c0048t0030 a0012c0105t0024 others(4): Hide
a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0024t0008g0109 a0002c0032t0001g0025 a0002c0032t0001g0317 others(7): Hide
HG01081.hp2 HG01109.hp1 HG01243.hp2 HG02723.hp2 HG02896.hp1 others(7): Hide
MODIFIER
chr9
C
G
TogoVar
104817183:splice
104817183:variant
goto
c.3535+149C>T
1285646
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
9
24
25
29
a0002 a0004 a0005 a0008 a0012 others(4): Hide
a0002c0024 a0002c0046 a0002c0057 a0002c0058 a0004c0029 others(19): Hide
a0002c0024t0008 a0002c0046t0002 a0002c0057t0001 a0002c0058t0007 a0004c0029t0001 others(20): Hide
a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0024t0008g0109 a0002c0046t0002g0154 a0002c0057t0001g0148 others(24): Hide
HG01081.hp2 HG01109.hp1 HG01243.hp2 HG02055.hp2 HG02280.hp2 others(24): Hide
MODIFIER
chr9
G
A
TogoVar
104787941:splice
104787941:variant
goto
c.6183C>Tp.Gly2061Gly
364381
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001819 synonymous_variant
MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0011393 MedGen:C5231558 OMIM:604091 Orphanet:425|MONDO:MONDO:0008783 MedGen:C0039292 others(2): Hide
-
14
24
28
35
a0002 a0003 a0004 a0005 a0008 others(9): Hide
a0002c0025 a0002c0058 a0002c0075 a0002c0078 a0003c0077 others(19): Hide
a0002c0025t0007 a0002c0025t0008 a0002c0025t0015 a0002c0058t0007 a0002c0075t0027 others(23): Hide
a0002c0025t0007g0237 a0002c0025t0008g0285 a0002c0025t0015g0283 a0002c0058t0007g0143 a0002c0075t0027g0150 others(30): Hide
HG01099.hp1 HG01106.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 others(30): Hide
LOW
chr9
G
A
TogoVar
104787010:splice
104787010:variant
goto
c.6205-34C>T
1261134
Benign
ABCA1:19 NIPSNAP3B:55335
SO:0001627 intron_variant
MedGen:C3661900
-
8
13
13
18
a0002 a0004 a0005 a0008 a0011 others(3): Hide
a0002c0025 a0002c0058 a0002c0078 a0004c0064 a0004c0096 others(8): Hide
a0002c0025t0007 a0002c0058t0007 a0002c0078t0001 a0004c0064t0007 a0004c0096t0007 others(8): Hide
a0002c0025t0007g0237 a0002c0058t0007g0143 a0002c0078t0001g0216 a0004c0064t0007g0175 a0004c0096t0007g0020 others(13): Hide
HG01099.hp1 HG01106.hp1 HG01192.hp2 HG01257.hp2 HG01884.hp1 others(13): Hide
MODIFIER
chr9
G
A
TogoVar
104809743:splice
104809743:variant
goto
c.4176-179C>T
1230398
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
3
6
6
6
a0002 a0004 a0012
a0002c0025 a0004c0064 a0004c0096 a0012c0041 a0012c0065 others(1): Hide
a0002c0025t0007 a0004c0064t0007 a0004c0096t0007 a0012c0041t0001 a0012c0065t0007 others(1): Hide
a0002c0025t0007g0237 a0004c0064t0007g0175 a0004c0096t0007g0020 a0012c0041t0001g0274 a0012c0065t0007g0182 others(1): Hide
HG01099.hp1 HG01106.hp1 HG01192.hp2 HG02572.hp2 HG02886.hp2 others(1): Hide
MODIFIER
chr9
G
A
TogoVar
104903591:splice
104903591:variant
goto
c.66+23C>T
1706649
Likely_benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
5
5
5
6
a0002 a0003 a0011 a0012 a0022
a0002c0025 a0003c0056 a0011c0010 a0012c0093 a0022c0050
a0002c0025t0015 a0003c0056t0001 a0011c0010t0005 a0012c0093t0001 a0022c0050t0001
a0002c0025t0015g0283 a0003c0056t0001g0288 a0011c0010t0005g0097 a0011c0010t0005g0287 a0012c0093t0001g0108 others(1): Hide
HG01255.hp2 HG01952.hp2 HG02572.hp1 HG02647.hp1 HG02886.hp1 others(1): Hide
MODIFIER
chr9
G
A
TogoVar
104825499:splice
104825499:variant
goto
c.2542+184A>T
1196861
Likely_benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
2
3
3
4
a0002 a0012
a0002c0031 a0002c0081 a0012c0093
a0002c0031t0001 a0002c0081t0013 a0012c0093t0001
a0002c0031t0001g0152 a0002c0031t0001g0278 a0002c0081t0013g0277 a0012c0093t0001g0108
HG01952.hp2 HG02258.hp2 HG02486.hp2 HG02818.hp1
MODIFIER
chr9
T
A
TogoVar
104821467:splice
104821467:variant
goto
c.2868C>Tp.Thr956Thr
496292
Benign/Likely_benign
ABCA1:19
SO:0001819 synonymous_variant
MedGen:C3661900|MONDO:MONDO:0011393 MedGen:C5231558 OMIM:604091 Orphanet:425|MONDO:MONDO:0008783 MedGen:C0039292 others(2): Hide
-
2
2
2
3
a0002 a0012
a0002c0031 a0012c0093
a0002c0031t0001 a0012c0093t0001
a0002c0031t0001g0152 a0002c0031t0001g0278 a0012c0093t0001g0108
HG01952.hp2 HG02258.hp2 HG02486.hp2
LOW
chr9
G
A
TogoVar
104845460:splice
104845460:variant
goto
c.813+17C>T
918149
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:CN169374|MedGen:C3661900
-
5
6
6
6
a0002 a0003 a0004 a0012 a0027
a0002c0037 a0002c0046 a0003c0077 a0004c0066 a0012c0065 others(1): Hide
a0002c0037t0001 a0002c0046t0002 a0003c0077t0005 a0004c0066t0008 a0012c0065t0007 others(1): Hide
a0002c0037t0001g0275 a0002c0046t0002g0154 a0003c0077t0005g0312 a0004c0066t0008g0007 a0012c0065t0007g0182 others(1): Hide
HG01106.hp1 HG03098.hp2 HG03540.hp1 NA19030.hp1 NA19043.hp1 others(1): Hide
MODIFIER
chr9
G
A
TogoVar
104858817:splice
104858817:variant
goto
c.544-119C>A
1197427
Likely_benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
3
3
3
3
a0004 a0012 a0027
a0004c0066 a0012c0065 a0027c0062
a0004c0066t0008 a0012c0065t0007 a0027c0062t0001
a0004c0066t0008g0007 a0012c0065t0007g0182 a0027c0062t0001g0310
HG01106.hp1 NA19030.hp1 NA21309.hp2
MODIFIER
chr9
G
T
TogoVar
104831221:splice
104831221:variant
goto
c.1716-121dupA
1261295
Benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
6
9
10
10
a0005 a0009 a0012 a0024 a0032 others(1): Hide
a0005c0016 a0009c0021 a0012c0041 a0012c0065 a0012c0102 others(4): Hide
a0005c0016t0011 a0009c0021t0001 a0012c0041t0001 a0012c0041t0002 a0012c0065t0007 others(5): Hide
a0005c0016t0011g0075 a0009c0021t0001g0189 a0012c0041t0001g0274 a0012c0041t0002g0230 a0012c0065t0007g0182 others(5): Hide
HG01106.hp1 HG02280.hp1 HG02572.hp2 HG02647.hp2 HG02723.hp1 others(5): Hide
MODIFIER
chr9
C
CT
TogoVar
104806521:splice
104806521:variant
goto
c.4275-91G>A
1191035
Likely_benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
3
6
6
6
a0005 a0012 a0018
a0005c0026 a0005c0036 a0005c0070 a0012c0105 a0018c0079 others(1): Hide
a0005c0026t0024 a0005c0036t0001 a0005c0070t0001 a0012c0105t0024 a0018c0079t0004 others(1): Hide
a0005c0026t0024g0157 a0005c0036t0001g0273 a0005c0070t0001g0316 a0012c0105t0024g0217 a0018c0079t0004g0314 others(1): Hide
HG01109.hp1 HG01243.hp2 HG02976.hp2 HG03130.hp1 HG03225.hp1 others(1): Hide
MODIFIER
chr9
C
T
TogoVar
104810769:splice
104810769:variant
goto
c.4175+31G>A
1205100
Likely_benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
3
6
6
6
a0005 a0012 a0018
a0005c0026 a0005c0036 a0005c0070 a0012c0105 a0018c0079 others(1): Hide
a0005c0026t0024 a0005c0036t0001 a0005c0070t0001 a0012c0105t0024 a0018c0079t0004 others(1): Hide
a0005c0026t0024g0157 a0005c0036t0001g0273 a0005c0070t0001g0316 a0012c0105t0024g0217 a0018c0079t0004g0314 others(1): Hide
HG01109.hp1 HG01243.hp2 HG02976.hp2 HG03130.hp1 HG03225.hp1 others(1): Hide
MODIFIER
chr9
C
T
TogoVar
104816607:splice
104816607:variant
goto
c.3536-262T>C
1210855
Likely_benign
ABCA1:19
SO:0001627 intron_variant
MedGen:C3661900
-
3
6
6
6
a0005 a0012 a0018
a0005c0026 a0005c0036 a0005c0070 a0012c0105 a0018c0079 others(1): Hide
a0005c0026t0024 a0005c0036t0001 a0005c0070t0001 a0012c0105t0024 a0018c0079t0004 others(1): Hide
a0005c0026t0024g0157 a0005c0036t0001g0273 a0005c0070t0001g0316 a0012c0105t0024g0217 a0018c0079t0004g0314 others(1): Hide
HG01109.hp1 HG01243.hp2 HG02976.hp2 HG03130.hp1 HG03225.hp1 others(1): Hide
MODIFIER
chr9
A
G
TogoVar