8852296:splice
8852296:variant
goto
c.2550C>Ap.Asp850Glu
1169145
Benign
A2ML1:144568
SO:0001583
MedGen:C3661900
+
35
63
80
343
a0001 a0002 a0003 a0004 a0005 others(30): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(58): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(75): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(338): Hide HG00099.hp1Hide
MODERATE
chr12
C
A
TogoVar
8863977:splice
8863977:variant
goto
c.3686A>Gp.His1229Arg
1169146
Benign
A2ML1:144568
SO:0001583
MedGen:C3661900|MedGen:CN169374
+
37
65
83
343
a0001 a0002 a0003 a0004 a0005 others(32): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(60): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(78): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(338): Hide HG00099.hp1Hide
MODERATE
chr12
A
G
TogoVar
8862003:splice
8862003:variant
goto
c.3502+706A>G
1294481
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
31
57
75
332
a0001 a0002 a0003 a0004 a0005 others(26): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(52): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(70): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(327): Hide HG00099.hp1Hide
MODIFIER
chr12
A
G
TogoVar
8863613:splice
8863613:variant
goto
c.3503-181G>A
561526
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
31
57
75
332
a0001 a0002 a0003 a0004 a0005 others(26): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(52): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(70): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(327): Hide HG00099.hp1Hide
MODIFIER
chr12
G
A
TogoVar
8864200:splice
8864200:variant
goto
c.3717+203delT
1233322
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
31
57
75
332
a0001 a0002 a0003 a0004 a0005 others(26): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(52): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(70): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(327): Hide HG00099.hp1Hide
MODIFIER
chr12
CT
C
TogoVar
8864209:splice
8864209:variant
goto
c.3717+201T>G
1231958
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
31
57
75
332
a0001 a0002 a0003 a0004 a0005 others(26): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(52): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(70): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(327): Hide HG00099.hp1Hide
MODIFIER
chr12
T
G
TogoVar
8835807:splice
8835807:variant
goto
c.643+141A>C
561551
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
39
66
83
341
a0001 a0002 a0003 a0004 a0005 others(34): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(61): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(78): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(336): Hide HG00099.hp1Hide
MODIFIER
chr12
A
C
TogoVar
8835946:splice
8835946:variant
goto
c.643+280C>G
561807
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
39
66
83
341
a0001 a0002 a0003 a0004 a0005 others(34): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(61): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(78): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(336): Hide HG00099.hp1Hide
MODIFIER
chr12
C
G
TogoVar
8839402:splice
8839402:variant
goto
c.1080+180C>A
561535
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
38
63
80
335
a0001 a0002 a0003 a0004 a0005 others(33): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(58): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(75): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(330): Hide HG00099.hp1Hide
MODIFIER
chr12
C
A
TogoVar
8839526:splice
8839526:variant
goto
c.1080+304_1080+305insT
561809
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
38
63
80
335
a0001 a0002 a0003 a0004 a0005 others(33): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(58): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(75): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(330): Hide HG00099.hp1Hide
MODIFIER
chr12
C
CT
TogoVar
8841616:splice
8841616:variant
goto
c.1248+80T>C
561520
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
38
63
80
335
a0001 a0002 a0003 a0004 a0005 others(33): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(58): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(75): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(330): Hide HG00099.hp1Hide
MODIFIER
chr12
T
C
TogoVar
8863611:splice
8863611:variant
goto
c.3503-183A>G
561525
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
31
57
75
331
a0001 a0002 a0003 a0004 a0005 others(26): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(52): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(70): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(326): Hide HG00099.hp1Hide
MODIFIER
chr12
A
G
TogoVar
8876276:splice
8876276:variant
goto
c.*220G>A
1183668
Benign
A2ML1:144568
SO:0001624
MedGen:C3661900
+
26
41
47
213
a0001 a0002 a0003 a0005 a0006 others(21): Hide a0001c0001 a0001c0002 a0001c0008 a0001c0035 a0001c0046 others(36): Hide a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0008t0001 others(42): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(208): Hide HG00099.hp1Hide
MODIFIER
chr12
G
A
TogoVar
8841013:splice
8841013:variant
goto
c.1081-339_1081-332delGGAAGGAA
1668934
Likely_benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
31
51
66
312
a0001 a0002 a0003 a0004 a0005 others(26): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(46): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(61): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(307): Hide HG00099.hp1Hide
MODIFIER
chr12
CGGAAGGAHide
C
TogoVar
8847987:splice
8847987:variant
goto
c.1833+305delA
1258252
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
21
35
42
192
a0001 a0002 a0003 a0004 a0005 others(16): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(30): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(37): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(187): Hide HG00280.hp2Hide
MODIFIER
chr12
GA
G
TogoVar
8824168:splice
8824168:variant
goto
c.409+286A>G
561804
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
27
42
51
203
a0001 a0002 a0003 a0004 a0005 others(22): Hide a0001c0001 a0001c0002 a0001c0008 a0001c0035 a0001c0060 others(37): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 others(46): Hide a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 others(198): Hide HG00099.hp1Hide
MODIFIER
chr12
A
G
TogoVar
8836481:splice
8836481:variant
goto
c.728+161delT
1231791
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
19
32
36
77
a0001 a0002 a0003 a0004 a0005 others(14): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0003 others(27): Hide a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0006t0002 a0001c0008t0001 others(31): Hide a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0116 a0001c0001t0001g0213 a0001c0001t0001g0317 others(72): Hide HG00280.hp1Hide
MODIFIER
chr12
CT
C
TogoVar
8838914:splice
8838914:variant
goto
c.971-177delA
1245555
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
15
23
27
35
a0001 a0002 a0004 a0005 a0008 others(10): Hide a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0004c0029 others(18): Hide a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0006t0002 a0002c0003t0001 others(22): Hide a0001c0001t0001g0071 a0001c0001t0003g0008 a0001c0001t0003g0157 a0001c0002t0002g0048 a0001c0006t0002g0231 others(30): Hide HG00639.hp1Hide
MODIFIER
chr12
TA
T
TogoVar
8838831:splice
8838831:variant
goto
c.971-282C>T
561808
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
7
10
10
13
a0001 a0002 a0004 a0009 a0011 others(2): Hide a0001c0001 a0002c0003 a0004c0014 a0004c0029 a0004c0045 others(5): Hide a0001c0001t0001 a0002c0003t0002 a0004c0014t0004 a0004c0029t0004 a0004c0045t0004 others(5): Hide a0001c0001t0001g0071 a0002c0003t0002g0347 a0004c0014t0004g0215 a0004c0029t0004g0007 a0004c0045t0004g0123 others(8): Hide HG00639.hp1Hide
MODIFIER
chr12
C
T
TogoVar
8837805:splice
8837805:variant
goto
c.855+239G>A
1296525
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
8
13
13
24
a0001 a0002 a0004 a0009 a0011 others(3): Hide a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0004c0014 others(8): Hide a0001c0001t0001 a0001c0002t0002 a0002c0003t0002 a0002c0004t0003 a0004c0014t0004 others(8): Hide a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0191 a0001c0001t0001g0276 others(19): Hide HG00621.hp1Hide
MODIFIER
chr12
G
A
TogoVar
8829654:splice
8829654:variant
goto
c.410-51dupA
1259076
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
18
26
30
49
a0001 a0002 a0003 a0004 a0005 others(13): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0003 others(21): Hide a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0006t0002 a0001c0008t0001 others(25): Hide a0001c0001t0001g0136 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0278 a0001c0001t0001g0280 others(44): Hide HG00621.hp1Hide
MODIFIER
chr12
C
CA
TogoVar
8822219:splice
8822219:variant
goto
c.-433T>C
561801
Benign
A2ML1:144568
.
MedGen:C3661900
+
26
45
58
168
a0001 a0002 a0003 a0004 a0005 others(21): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0046 others(40): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(53): Hide a0001c0001t0001g0216 a0001c0001t0001g0244 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0276 others(163): Hide HG00280.hp2Hide
MODIFIER
chr12
T
C
TogoVar
8822610:splice
8822610:variant
goto
c.-42T>A
506741
Benign
A2ML1:144568
.
MedGen:CN169374
+
2
2
2
2
a0001 a0030 a0001c0001 a0030c0051 a0001c0001t0001 a0030c0051t0005 a0001c0001t0001g0216 a0030c0051t0005g0217 HG01109.hp1
MODIFIER
chr12
T
A
TogoVar
8845245:splice
8845245:variant
goto
c.1477-197G>T
561532
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
19
27
27
43
a0001 a0002 a0004 a0006 a0010 others(14): Hide a0001c0001 a0002c0004 a0002c0061 a0004c0014 a0004c0029 others(22): Hide a0001c0001t0001 a0002c0004t0003 a0002c0061t0004 a0004c0014t0004 a0004c0029t0004 others(22): Hide a0001c0001t0001g0271 a0001c0001t0001g0272 a0002c0004t0003g0124 a0002c0061t0004g0314 a0004c0014t0004g0159 others(38): Hide HG00639.hp1Hide
MODIFIER
chr12
G
T
TogoVar
8867647:splice
8867647:variant
goto
c.3718-182delA
1248975
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
8
15
15
22
a0001 a0004 a0010 a0015 a0030 others(3): Hide a0001c0002 a0004c0014 a0004c0029 a0004c0040 a0004c0045 others(10): Hide a0001c0002t0002 a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 a0004c0045t0004 others(10): Hide a0001c0002t0002g0048 a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 others(17): Hide HG01167.hp2Hide
MODIFIER
chr12
GA
G
TogoVar
8868457:splice
8868457:variant
goto
c.4062-63_4062-62dupGT
1296535
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
9
16
16
23
a0001 a0002 a0004 a0010 a0015 others(4): Hide a0001c0002 a0002c0007 a0004c0014 a0004c0029 a0004c0040 others(11): Hide a0001c0002t0002 a0002c0007t0003 a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 others(11): Hide a0001c0002t0002g0218 a0002c0007t0003g0320 a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 others(18): Hide HG01167.hp2Hide
MODIFIER
chr12
C
CGT
TogoVar
8862121:splice
8862121:variant
goto
c.3502+824T>C
1248162
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
16
25
30
79
a0002 a0004 a0009 a0011 a0014 others(11): Hide a0002c0003 a0002c0017 a0002c0061 a0004c0014 a0004c0029 others(20): Hide a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0017t0002 a0002c0017t0004 others(25): Hide a0002c0003t0001g0047 a0002c0003t0001g0052 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0087 others(74): Hide HG00280.hp1Hide
MODIFIER
chr12
T
C
TogoVar
8836068:splice
8836068:variant
goto
c.644-187A>G
1247117
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
5
8
8
11
a0002 a0004 a0009 a0011 a0030 a0002c0003 a0004c0014 a0004c0029 a0004c0045 a0004c0053 others(3): Hide a0002c0003t0002 a0004c0014t0004 a0004c0029t0004 a0004c0045t0004 a0004c0053t0004 others(3): Hide a0002c0003t0002g0347 a0004c0014t0004g0215 a0004c0029t0004g0007 a0004c0045t0004g0123 a0004c0053t0004g0344 others(6): Hide HG00639.hp1Hide
MODIFIER
chr12
A
G
TogoVar
8834821:splice
8834821:variant
goto
c.483+139A>G
1178074
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
5
7
7
10
a0002 a0004 a0009 a0011 a0030 a0002c0003 a0004c0029 a0004c0045 a0004c0053 a0009c0015 others(2): Hide a0002c0003t0002 a0004c0029t0004 a0004c0045t0004 a0004c0053t0004 a0009c0015t0001 others(2): Hide a0002c0003t0002g0347 a0004c0029t0004g0007 a0004c0045t0004g0123 a0004c0053t0004g0344 a0009c0015t0001g0128 others(5): Hide HG00639.hp1Hide
MODIFIER
chr12
A
G
TogoVar
8857403:splice
8857403:variant
goto
c.3025+63_3025+64insAA
561563
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
19
31
36
99
a0002 a0003 a0004 a0006 a0008 others(14): Hide a0002c0004 a0002c0007 a0003c0005 a0003c0010 a0003c0023 others(26): Hide a0002c0004t0001 a0002c0004t0003 a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 others(31): Hide a0002c0004t0001g0299 a0002c0004t0001g0338 a0002c0004t0003g0002 a0002c0004t0003g0020 a0002c0004t0003g0034 others(94): Hide HG00099.hp1Hide
MODIFIER
chr12
T
TAA
TogoVar
8848014:splice
8848014:variant
goto
c.1833+316A>G
561885
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
19
28
29
46
a0002 a0004 a0006 a0009 a0010 others(14): Hide a0002c0004 a0002c0061 a0004c0014 a0004c0029 a0004c0040 others(23): Hide a0002c0004t0003 a0002c0061t0004 a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 others(24): Hide a0002c0004t0003g0124 a0002c0061t0004g0314 a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 others(41): Hide HG00639.hp1Hide
MODIFIER
chr12
A
G
TogoVar
8847892:splice
8847892:variant
goto
c.1833+194T>C
561558
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
17
25
26
41
a0002 a0004 a0006 a0009 a0011 others(12): Hide a0002c0004 a0002c0061 a0004c0014 a0004c0029 a0004c0040 others(20): Hide a0002c0004t0003 a0002c0061t0004 a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 others(21): Hide a0002c0004t0003g0124 a0002c0061t0004g0314 a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 others(36): Hide HG00639.hp1Hide
MODIFIER
chr12
T
C
TogoVar
8847911:splice
8847911:variant
goto
c.1833+213T>C
561559
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
17
25
26
41
a0002 a0004 a0006 a0009 a0011 others(12): Hide a0002c0004 a0002c0061 a0004c0014 a0004c0029 a0004c0040 others(20): Hide a0002c0004t0003 a0002c0061t0004 a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 others(21): Hide a0002c0004t0003g0124 a0002c0061t0004g0314 a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 others(36): Hide HG00639.hp1Hide
MODIFIER
chr12
T
C
TogoVar
8848016:splice
8848016:variant
goto
c.1833+319_1833+320insTG
561886
Benign
A2ML1:144568
SO:0001627
MedGen:CN517202
+
17
25
26
41
a0002 a0004 a0006 a0009 a0011 others(12): Hide a0002c0004 a0002c0061 a0004c0014 a0004c0029 a0004c0040 others(20): Hide a0002c0004t0003 a0002c0061t0004 a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 others(21): Hide a0002c0004t0003g0124 a0002c0061t0004g0314 a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 others(36): Hide HG00639.hp1Hide
MODIFIER
chr12
G
GGT
TogoVar
8849121:splice
8849121:variant
goto
c.2028+207T>C
561560
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
17
25
26
41
a0002 a0004 a0006 a0009 a0011 others(12): Hide a0002c0004 a0002c0061 a0004c0014 a0004c0029 a0004c0040 others(20): Hide a0002c0004t0003 a0002c0061t0004 a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 others(21): Hide a0002c0004t0003g0124 a0002c0061t0004g0314 a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 others(36): Hide HG00639.hp1Hide
MODIFIER
chr12
T
C
TogoVar
8849393:splice
8849393:variant
goto
c.2029-276C>G
561887
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
17
25
26
41
a0002 a0004 a0006 a0009 a0011 others(12): Hide a0002c0004 a0002c0061 a0004c0014 a0004c0029 a0004c0040 others(20): Hide a0002c0004t0003 a0002c0061t0004 a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 others(21): Hide a0002c0004t0003g0124 a0002c0061t0004g0314 a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 others(36): Hide HG00639.hp1Hide
MODIFIER
chr12
C
G
TogoVar
8850336:splice
8850336:variant
goto
c.2234+62A>G
561561
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
17
25
26
41
a0002 a0004 a0006 a0009 a0011 others(12): Hide a0002c0004 a0002c0061 a0004c0014 a0004c0029 a0004c0040 others(20): Hide a0002c0004t0003 a0002c0061t0004 a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 others(21): Hide a0002c0004t0003g0124 a0002c0061t0004g0314 a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 others(36): Hide HG00639.hp1Hide
MODIFIER
chr12
A
G
TogoVar
8850431:splice
8850431:variant
goto
c.2234+157T>A
561562
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
17
25
26
41
a0002 a0004 a0006 a0009 a0011 others(12): Hide a0002c0004 a0002c0061 a0004c0014 a0004c0029 a0004c0040 others(20): Hide a0002c0004t0003 a0002c0061t0004 a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 others(21): Hide a0002c0004t0003g0124 a0002c0061t0004g0314 a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 others(36): Hide HG00639.hp1Hide
MODIFIER
chr12
T
A
TogoVar
8846296:splice
8846296:variant
goto
c.1683+74A>G
561557
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
16
24
25
40
a0002 a0004 a0006 a0009 a0010 others(11): Hide a0002c0004 a0002c0061 a0004c0014 a0004c0029 a0004c0040 others(19): Hide a0002c0004t0003 a0002c0061t0004 a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 others(20): Hide a0002c0004t0003g0124 a0002c0061t0004g0314 a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 others(35): Hide HG00639.hp1Hide
MODIFIER
chr12
A
G
TogoVar
8847245:splice
8847245:variant
goto
c.1684-287_1684-285delAAA
1177894
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
13
21
22
32
a0002 a0004 a0009 a0011 a0014 others(8): Hide a0002c0004 a0002c0061 a0004c0014 a0004c0029 a0004c0040 others(16): Hide a0002c0004t0003 a0002c0061t0004 a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 others(17): Hide a0002c0004t0003g0124 a0002c0061t0004g0314 a0004c0014t0004g0159 a0004c0014t0004g0237 a0004c0014t0004g0238 others(27): Hide HG00639.hp1Hide
MODIFIER
chr12
TAAA
T
TogoVar
8867610:splice
8867610:variant
goto
c.3718-232G>A
1180966
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
7
14
14
21
a0004 a0010 a0015 a0030 a0032 others(2): Hide a0004c0014 a0004c0029 a0004c0040 a0004c0045 a0004c0047 others(9): Hide a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 a0004c0045t0004 a0004c0047t0004 others(9): Hide a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0029t0004g0007 others(16): Hide HG01167.hp2Hide
MODIFIER
chr12
G
A
TogoVar
8867732:splice
8867732:variant
goto
c.3718-110T>C
561611
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
7
14
14
21
a0004 a0010 a0015 a0030 a0032 others(2): Hide a0004c0014 a0004c0029 a0004c0040 a0004c0045 a0004c0047 others(9): Hide a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 a0004c0045t0004 a0004c0047t0004 others(9): Hide a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0029t0004g0007 others(16): Hide HG01167.hp2Hide
MODIFIER
chr12
T
C
TogoVar
8867967:splice
8867967:variant
goto
c.3843T>Cp.Val1281Val
384726
Benign
A2ML1:144568
SO:0001819
MedGen:C3661900|MedGen:CN169374
+
7
14
14
21
a0004 a0010 a0015 a0030 a0032 others(2): Hide a0004c0014 a0004c0029 a0004c0040 a0004c0045 a0004c0047 others(9): Hide a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 a0004c0045t0004 a0004c0047t0004 others(9): Hide a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0029t0004g0007 others(16): Hide HG01167.hp2Hide
LOW
chr12
T
C
TogoVar
8868198:splice
8868198:variant
goto
c.3934-32G>C
561612
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
7
14
14
21
a0004 a0010 a0015 a0030 a0032 others(2): Hide a0004c0014 a0004c0029 a0004c0040 a0004c0045 a0004c0047 others(9): Hide a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 a0004c0045t0004 a0004c0047t0004 others(9): Hide a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0029t0004g0007 others(16): Hide HG01167.hp2Hide
MODIFIER
chr12
G
C
TogoVar
8868200:splice
8868200:variant
goto
c.3934-30C>T
561613
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
7
14
14
21
a0004 a0010 a0015 a0030 a0032 others(2): Hide a0004c0014 a0004c0029 a0004c0040 a0004c0045 a0004c0047 others(9): Hide a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 a0004c0045t0004 a0004c0047t0004 others(9): Hide a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0029t0004g0007 others(16): Hide HG01167.hp2Hide
MODIFIER
chr12
C
T
TogoVar
8868425:splice
8868425:variant
goto
c.4061+68T>C
1261805
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
7
14
14
21
a0004 a0010 a0015 a0030 a0032 others(2): Hide a0004c0014 a0004c0029 a0004c0040 a0004c0045 a0004c0047 others(9): Hide a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 a0004c0045t0004 a0004c0047t0004 others(9): Hide a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0029t0004g0007 others(16): Hide HG01167.hp2Hide
MODIFIER
chr12
T
C
TogoVar
8868687:splice
8868687:variant
goto
c.4152+60A>T
561614
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
7
14
14
21
a0004 a0010 a0015 a0030 a0032 others(2): Hide a0004c0014 a0004c0029 a0004c0040 a0004c0045 a0004c0047 others(9): Hide a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 a0004c0045t0004 a0004c0047t0004 others(9): Hide a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0029t0004g0007 others(16): Hide HG01167.hp2Hide
MODIFIER
chr12
A
T
TogoVar
8863722:splice
8863722:variant
goto
c.3503-72T>C
1228926
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
5
11
11
16
a0004 a0015 a0030 a0034 a0039 a0004c0014 a0004c0029 a0004c0040 a0004c0045 a0004c0047 others(6): Hide a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 a0004c0045t0004 a0004c0047t0004 others(6): Hide a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0029t0004g0007 others(11): Hide HG01167.hp2Hide
MODIFIER
chr12
T
C
TogoVar
8874732:splice
8874732:variant
goto
c.4324+205G>A
1247875
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
5
6
6
11
a0004 a0015 a0030 a0034 a0039 a0004c0014 a0004c0064 a0015c0019 a0030c0051 a0034c0052 others(1): Hide a0004c0014t0004 a0004c0064t0002 a0015c0019t0004 a0030c0051t0005 a0034c0052t0005 others(1): Hide a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0064t0002g0351 others(6): Hide HG02055.hp1Hide
MODIFIER
chr12
G
A
TogoVar
8856898:splice
8856898:variant
goto
c.2849-248_2849-247delTT
1265249
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
4
7
7
7
a0004 a0030 a0034 a0039 a0004c0029 a0004c0045 a0004c0047 a0004c0053 a0030c0051 others(2): Hide a0004c0029t0004 a0004c0045t0004 a0004c0047t0004 a0004c0053t0004 a0030c0051t0005 others(2): Hide a0004c0029t0004g0007 a0004c0045t0004g0123 a0004c0047t0004g0093 a0004c0053t0004g0344 a0030c0051t0005g0217 others(2): Hide HG01167.hp2Hide
MODIFIER
chr12
CTT
C
TogoVar
8862110:splice
8862110:variant
goto
c.3502+813G>A
1242201
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
4
7
7
7
a0004 a0030 a0034 a0039 a0004c0029 a0004c0045 a0004c0047 a0004c0053 a0030c0051 others(2): Hide a0004c0029t0004 a0004c0045t0004 a0004c0047t0004 a0004c0053t0004 a0030c0051t0005 others(2): Hide a0004c0029t0004g0007 a0004c0045t0004g0123 a0004c0047t0004g0093 a0004c0053t0004g0344 a0030c0051t0005g0217 others(2): Hide HG01167.hp2Hide
MODIFIER
chr12
G
A
TogoVar
8867656:splice
8867656:variant
goto
c.3718-186A>G
1265833
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
4
7
7
7
a0004 a0030 a0034 a0039 a0004c0029 a0004c0045 a0004c0047 a0004c0053 a0030c0051 others(2): Hide a0004c0029t0004 a0004c0045t0004 a0004c0047t0004 a0004c0053t0004 a0030c0051t0005 others(2): Hide a0004c0029t0004g0007 a0004c0045t0004g0123 a0004c0047t0004g0093 a0004c0053t0004g0344 a0030c0051t0005g0217 others(2): Hide HG01167.hp2Hide
MODIFIER
chr12
A
G
TogoVar
8874437:splice
8874437:variant
goto
c.4234A>Gp.Thr1412Ala
386368
Benign
A2ML1:144568
SO:0001583
MedGen:CN169374|MedGen:C3661900
+
4
5
5
7
a0010 a0030 a0034 a0039 a0010c0020 a0010c0065 a0030c0051 a0034c0052 a0039c0037 a0010c0020t0005 a0010c0065t0005 a0030c0051t0005 a0034c0052t0005 a0039c0037t0006 a0010c0020t0005g0023 a0010c0020t0005g0024 a0010c0020t0005g0037 a0010c0065t0005g0313 a0030c0051t0005g0217 others(2): Hide HG01168.hp1Hide
MODERATE
chr12
A
G
TogoVar
8835855:splice
8835855:variant
goto
c.643+189T>A
1317844
Likely_benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
1
1
1
1
a0030 a0030c0051 a0030c0051t0005 a0030c0051t0005g0217 HG02572.hp1
MODIFIER
chr12
T
A
TogoVar
8874077:splice
8874077:variant
goto
c.4222-348G>A
1318300
Likely_benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
2
2
2
2
a0030 a0034 a0030c0051 a0034c0052 a0030c0051t0005 a0034c0052t0005 a0030c0051t0005g0217 a0034c0052t0005g0360 HG02572.hp1
MODIFIER
chr12
G
A
TogoVar
