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
8867893:splice
8867893:variant
goto
c.3769A>Gp.Met1257Val
384670
Benign
A2ML1:144568
SO:0001583
MedGen:C3661900|MedGen:CN169374
+
26
45
63
312
a0001 a0002 a0003 a0005 a0007 others(21): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(40): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(58): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(307): Hide HG00099.hp1Hide
MODERATE
chr12
A
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
8834954:splice
8834954:variant
goto
c.483+272T>C
561806
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
37
63
81
340
a0001 a0002 a0003 a0004 a0005 others(32): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(58): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(76): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(335): Hide HG00099.hp1Hide
MODIFIER
chr12
T
C
TogoVar
8836181:splice
8836181:variant
goto
c.644-74A>G
561539
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
31
51
66
315
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(310): Hide HG00099.hp1Hide
MODIFIER
chr12
A
G
TogoVar
8838217:splice
8838217:variant
goto
c.856-119A>G
561533
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
34
54
71
320
a0001 a0002 a0003 a0004 a0005 others(29): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(49): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(66): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(315): Hide HG00099.hp1Hide
MODIFIER
chr12
A
G
TogoVar
8861159:splice
8861159:variant
goto
c.3364C>Tp.Arg1122Trp
384669
Benign
A2ML1:144568
SO:0001583
MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008162
+
9
19
25
183
a0001 a0005 a0007 a0018 a0020 others(4): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(14): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(20): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(178): Hide HG00099.hp2Hide
MODERATE
chr12
C
T
TogoVar
8851916:splice
8851916:variant
goto
c.2367G>Ap.Pro789Pro
383777
Benign
A2ML1:144568
SO:0001819
MedGen:CN169374|MedGen:C3661900
+
29
51
69
329
a0001 a0002 a0003 a0004 a0005 others(24): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(46): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(64): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(324): Hide HG00099.hp1Hide
LOW
chr12
G
A
TogoVar
8855722:splice
8855722:variant
goto
c.2848+130G>C
561527
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
14
27
37
208
a0001 a0002 a0005 a0007 a0008 others(9): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(22): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(32): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(203): Hide HG00099.hp2Hide
MODIFIER
chr12
G
C
TogoVar
8854629:splice
8854629:variant
goto
c.2713-147_2713-132delTCTTCTGAGCTTCAGT
1266223
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
15
27
37
207
a0001 a0002 a0005 a0007 a0008 others(10): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(22): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(32): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(202): Hide HG00099.hp2Hide
MODIFIER
chr12
GAGTTCTTHide
G
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
8868316:splice
8868316:variant
goto
c.4020A>Gp.Gln1340Gln
384671
Benign
A2ML1:144568
SO:0001819
MedGen:C3661900|MedGen:CN169374
+
23
37
54
238
a0001 a0002 a0003 a0005 a0007 others(18): Hide a0001c0001 a0001c0008 a0001c0035 a0001c0046 a0002c0003 others(32): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(49): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(233): Hide HG00099.hp1Hide
LOW
chr12
A
G
TogoVar
8868720:splice
8868720:variant
goto
c.4152+107_4152+108dupCA
1278491
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
23
37
54
237
a0001 a0002 a0003 a0005 a0007 others(18): Hide a0001c0001 a0001c0008 a0001c0035 a0001c0046 a0002c0003 others(32): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(49): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(232): Hide HG00099.hp1Hide
MODIFIER
chr12
T
TAC
TogoVar
8852071:splice
8852071:variant
goto
c.2463+59G>C
561554
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
20
33
43
209
a0001 a0002 a0005 a0007 a0008 others(15): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(28): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 others(38): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(204): Hide HG00099.hp2Hide
MODIFIER
chr12
G
C
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
8845865:splice
8845865:variant
goto
c.1538-188_1538-184dupTAAAA
1265793
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
23
38
51
257
a0001 a0002 a0003 a0005 a0006 others(18): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(33): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(46): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(252): Hide HG00099.hp2Hide
MODIFIER
chr12
T
TAAATA
TogoVar
8868457:splice
8868457:variant
goto
c.4062-65_4062-62dupGTGT
1259205
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
23
35
52
220
a0001 a0002 a0003 a0005 a0007 others(18): Hide a0001c0001 a0001c0008 a0001c0035 a0001c0046 a0002c0003 others(30): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(47): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(215): Hide HG00099.hp1Hide
MODIFIER
chr12
C
CGTGT
TogoVar
8854896:splice
8854896:variant
goto
c.2764+81dupT
1284191
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
17
32
42
202
a0001 a0002 a0005 a0007 a0008 others(12): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(27): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(37): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(197): Hide HG00099.hp2Hide
MODIFIER
chr12
A
AT
TogoVar
8837320:splice
8837320:variant
goto
c.729-120A>G
561552
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
34
56
73
310
a0001 a0002 a0003 a0004 a0005 others(29): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(51): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(68): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(305): Hide HG00099.hp1Hide
MODIFIER
chr12
A
G
TogoVar
8869446:splice
8869446:variant
goto
c.4221+247_4221+248delCA
1296520
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
5
10
15
96
a0001 a0005 a0007 a0020 a0040 a0001c0001 a0001c0008 a0001c0035 a0001c0046 a0005c0009 others(5): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(10): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(91): Hide HG00280.hp2Hide
MODIFIER
chr12
GAC
G
TogoVar
8854435:splice
8854435:variant
goto
c.2712+186C>G
561555
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
16
28
39
208
a0001 a0002 a0004 a0005 a0007 others(11): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(23): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(34): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(203): Hide HG00099.hp2Hide
MODIFIER
chr12
C
G
TogoVar
8838650:splice
8838650:variant
goto
c.970+200C>T
561553
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
29
47
62
306
a0001 a0002 a0003 a0004 a0005 others(24): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(42): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(57): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(301): Hide HG00099.hp1Hide
MODIFIER
chr12
C
T
TogoVar
8839374:splice
8839374:variant
goto
c.1080+152G>A
561534
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
29
47
62
306
a0001 a0002 a0003 a0004 a0005 others(24): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(42): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(57): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(301): Hide HG00099.hp1Hide
MODIFIER
chr12
G
A
TogoVar
8839534:splice
8839534:variant
goto
c.1080+318_1080+320delAAG
561810
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
29
47
62
306
a0001 a0002 a0003 a0004 a0005 others(24): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(42): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(57): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(301): Hide HG00099.hp1Hide
MODIFIER
chr12
TAGA
T
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
8847245:splice
8847245:variant
goto
c.1684-285dupA
1225716
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
22
40
54
273
a0001 a0002 a0003 a0004 a0005 others(17): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(35): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(49): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(268): Hide HG00099.hp1Hide
MODIFIER
chr12
T
TA
TogoVar
8856898:splice
8856898:variant
goto
c.2849-248_2849-247dupTT
1229634
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
15
26
36
191
a0001 a0002 a0005 a0007 a0008 others(10): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0060 others(21): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(31): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(186): Hide HG00099.hp2Hide
MODIFIER
chr12
C
CTT
TogoVar
8837891:splice
8837891:variant
goto
c.855+342_855+343delAA
1181893
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
34
54
71
303
a0001 a0002 a0003 a0004 a0005 others(29): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(49): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(66): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(298): Hide HG00099.hp1Hide
MODIFIER
chr12
GAA
G
TogoVar
8845861:splice
8845861:variant
goto
c.1538-216A>T
1261896
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
11
23
30
176
a0001 a0002 a0005 a0007 a0018 others(6): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0035 others(18): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 others(25): Hide a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 others(171): Hide HG00280.hp2Hide
MODIFIER
chr12
A
T
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
8836012:splice
8836012:variant
goto
c.644-221dupA
1237886
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
20
30
33
55
a0001 a0002 a0003 a0004 a0005 others(15): Hide a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 others(25): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0006t0002 others(28): Hide a0001c0001t0001g0040 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0171 a0001c0001t0001g0212 others(50): Hide HG00438.hp1Hide
MODIFIER
chr12
C
CA
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
8824184:splice
8824184:variant
goto
c.409+302T>C
561805
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
14
22
26
93
a0001 a0002 a0003 a0004 a0005 others(9): Hide a0001c0001 a0001c0002 a0001c0060 a0002c0003 a0002c0004 others(17): Hide a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0060t0002 a0002c0003t0001 others(21): Hide a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 others(88): Hide HG00099.hp1Hide
MODIFIER
chr12
T
C
TogoVar
8842927:splice
8842927:variant
goto
c.1249-207C>G
561521
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
19
32
44
138
a0001 a0002 a0003 a0004 a0005 others(14): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0060 others(27): Hide a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0006t0002 a0001c0008t0001 others(39): Hide a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0001g0116 a0001c0001t0001g0244 others(133): Hide HG00099.hp1Hide
MODIFIER
chr12
C
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
8847905:splice
8847905:variant
goto
c.1833+207C>G
1270824
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
2
4
4
10
a0001 a0005 a0001c0001 a0001c0008 a0005c0009 a0005c0066 a0001c0001t0001 a0001c0008t0001 a0005c0009t0001 a0005c0066t0001 a0001c0001t0001g0057 a0001c0008t0001g0239 a0005c0009t0001g0001 a0005c0009t0001g0055 a0005c0009t0001g0056 others(5): Hide HG00280.hp2Hide
MODIFIER
chr12
C
G
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
8841013:splice
8841013:variant
goto
c.1081-356C>A
1668925
Likely_benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
3
4
4
4
a0001 a0004 a0033 a0001c0001 a0001c0002 a0004c0042 a0033c0049 a0001c0001t0001 a0001c0002t0002 a0004c0042t0002 a0033c0049t0001 a0001c0001t0001g0071 a0001c0002t0002g0334 a0004c0042t0002g0013 a0033c0049t0001g0021 HG01261.hp2
MODIFIER
chr12
C
A
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
8829654:splice
8829654:variant
goto
c.410-52_410-51dupAA
1317447
Likely_benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
6
7
8
12
a0001 a0002 a0006 a0011 a0013 others(1): Hide a0001c0001 a0001c0002 a0002c0003 a0006c0011 a0011c0016 others(2): Hide a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0001 a0006c0011t0005 others(3): Hide a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0276 a0001c0001t0002g0234 a0001c0002t0002g0129 others(7): Hide HG01074.hp1Hide
MODIFIER
chr12
C
CAA
TogoVar
8829909:splice
8829909:variant
goto
c.462+130C>T
1291261
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
8
8
8
13
a0001 a0004 a0006 a0010 a0013 others(3): Hide a0001c0001 a0004c0040 a0006c0011 a0010c0020 a0013c0021 others(3): Hide a0001c0001t0001 a0004c0040t0004 a0006c0011t0005 a0010c0020t0005 a0013c0021t0002 others(3): Hide a0001c0001t0001g0125 a0001c0001t0001g0161 a0001c0001t0001g0216 a0004c0040t0004g0219 a0006c0011t0005g0164 others(8): Hide HG01074.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
8837600:splice
8837600:variant
goto
c.855+34G>A
1316418
Likely_benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
2
3
3
11
a0001 a0002 a0001c0001 a0001c0002 a0002c0004 a0001c0001t0001 a0001c0002t0002 a0002c0004t0003 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0191 a0001c0001t0001g0276 others(6): Hide HG00621.hp1Hide
MODIFIER
chr12
G
A
TogoVar
8836545:splice
8836545:variant
goto
c.728+206G>A
1316417
Likely_benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
3
4
4
12
a0001 a0002 a0021 a0001c0001 a0001c0002 a0002c0004 a0021c0031 a0001c0001t0001 a0001c0002t0002 a0002c0004t0003 a0021c0031t0003 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0191 a0001c0001t0001g0276 others(7): Hide HG00621.hp1Hide
MODIFIER
chr12
G
A
TogoVar
8837778:splice
8837778:variant
goto
c.855+212G>T
1317676
Likely_benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
3
4
4
12
a0001 a0002 a0021 a0001c0001 a0001c0002 a0002c0004 a0021c0031 a0001c0001t0001 a0001c0002t0002 a0002c0004t0003 a0021c0031t0003 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0191 a0001c0001t0001g0276 others(7): Hide HG00621.hp1Hide
MODIFIER
chr12
G
T
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
8854896:splice
8854896:variant
goto
c.2764+80_2764+81dupTT
1253886
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
8
11
11
27
a0001 a0002 a0004 a0007 a0010 others(3): Hide a0001c0001 a0001c0002 a0002c0017 a0004c0014 a0004c0064 others(6): Hide a0001c0001t0001 a0001c0002t0002 a0002c0017t0003 a0004c0014t0004 a0004c0064t0002 others(6): Hide a0001c0001t0001g0145 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0186 others(22): Hide HG00544.hp1Hide
MODIFIER
chr12
A
ATT
TogoVar
8836481:splice
8836481:variant
goto
c.728+161dupT
1284067
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
12
14
15
19
a0001 a0002 a0003 a0004 a0006 others(7): Hide a0001c0001 a0001c0002 a0002c0061 a0003c0010 a0004c0014 others(9): Hide a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0061t0004 a0003c0010t0003 others(10): Hide a0001c0001t0001g0154 a0001c0001t0001g0176 a0001c0002t0001g0282 a0001c0002t0002g0107 a0001c0002t0002g0284 others(14): Hide HG01106.hp1Hide
MODIFIER
chr12
C
CT
TogoVar
8836012:splice
8836012:variant
goto
c.644-221delA
1232829
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
9
13
15
20
a0001 a0002 a0005 a0006 a0010 others(4): Hide a0001c0001 a0001c0002 a0002c0003 a0002c0061 a0005c0009 others(8): Hide a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0004 a0002c0061t0004 others(10): Hide a0001c0001t0001g0161 a0001c0001t0001g0280 a0001c0002t0002g0017 a0002c0003t0001g0097 a0002c0003t0001g0345 others(15): Hide HG01074.hp1Hide
MODIFIER
chr12
CA
C
TogoVar
8868457:splice
8868457:variant
goto
c.4062-67_4062-62dupGTGTGT
1253290
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
7
10
11
22
a0001 a0002 a0003 a0004 a0016 others(2): Hide a0001c0001 a0002c0004 a0003c0005 a0003c0010 a0003c0071 others(5): Hide a0001c0001t0001 a0001c0001t0003 a0002c0004t0003 a0003c0005t0003 a0003c0010t0003 others(6): Hide a0001c0001t0001g0161 a0001c0001t0003g0008 a0002c0004t0003g0274 a0002c0004t0003g0279 a0003c0005t0003g0080 others(17): Hide HG00639.hp2Hide
MODIFIER
chr12
C
CGTGTGT
TogoVar
8838914:splice
8838914:variant
goto
c.971-177dupA
1331192
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
8
11
11
15
a0001 a0002 a0006 a0010 a0013 others(3): Hide a0001c0001 a0001c0002 a0001c0068 a0002c0007 a0002c0017 others(6): Hide a0001c0001t0001 a0001c0002t0002 a0001c0068t0002 a0002c0007t0003 a0002c0017t0002 others(6): Hide a0001c0001t0001g0181 a0001c0001t0001g0280 a0001c0002t0002g0130 a0001c0068t0002g0333 a0002c0007t0003g0222 others(10): Hide HG01074.hp1Hide
MODIFIER
chr12
T
TA
TogoVar
8847245:splice
8847245:variant
goto
c.1684-286_1684-285dupAA
1318240
Likely_benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
5
6
6
11
a0001 a0003 a0005 a0027 a0041 a0001c0001 a0001c0002 a0003c0010 a0005c0009 a0027c0070 others(1): Hide a0001c0001t0001 a0001c0002t0002 a0003c0010t0003 a0005c0009t0001 a0027c0070t0001 others(1): Hide a0001c0001t0001g0188 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0281 a0001c0002t0002g0143 others(6): Hide HG00642.hp2Hide
MODIFIER
chr12
T
TAA
TogoVar
8843369:splice
8843369:variant
goto
c.1476+8C>G
413816
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900|MedGen:CN169374
+
1
1
1
1
a0001 a0001c0001 a0001c0001t0001 a0001c0001t0001g0191 NA19010.hp1
LOW
chr12
C
G
TogoVar
8829654:splice
8829654:variant
goto
c.410-51delA
1296522
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
8
9
11
14
a0001 a0002 a0004 a0013 a0014 others(3): Hide a0001c0001 a0001c0002 a0002c0004 a0004c0014 a0013c0021 others(4): Hide a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0002c0004t0003 others(6): Hide a0001c0001t0001g0193 a0001c0001t0001g0305 a0001c0001t0002g0312 a0001c0001t0003g0157 a0001c0002t0002g0339 others(9): Hide HG01884.hp1Hide
MODIFIER
chr12
CA
C
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
8823009:splice
8823009:variant
goto
c.63-173A>G
561550
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
18
35
46
144
a0001 a0002 a0003 a0004 a0005 others(13): Hide a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0046 others(30): Hide a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0002 others(41): Hide a0001c0001t0001g0244 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0278 others(139): Hide HG00280.hp2Hide
MODIFIER
chr12
A
G
TogoVar
8849815:splice
8849815:variant
goto
c.2119+56T>C
561677
Likely_benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
1
1
1
2
a0001 a0001c0001 a0001c0001t0001 a0001c0001t0001g0271 a0001c0001t0001g0272 HG02615.hp1
MODIFIER
chr12
T
C
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
8851769:splice
8851769:variant
goto
c.2235-15C>T
3704156
Likely_benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
1
1
1
1
a0001 a0001c0001 a0001c0001t0001 a0001c0001t0001g0281 NA18974.hp1
MODIFIER
chr12
C
T
TogoVar
8845865:splice
8845865:variant
goto
c.1538-193_1538-184dupTAAAATAAAA
1244579
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
5
12
13
42
a0001 a0002 a0003 a0004 a0018 a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 others(7): Hide a0001c0001t0001 a0001c0002t0002 a0001c0006t0002 a0002c0003t0001 a0002c0004t0003 others(8): Hide a0001c0001t0001g0298 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0072 a0001c0002t0002g0073 others(37): Hide HG00099.hp1Hide
MODIFIER
chr12
T
TAAATAAAHide
TogoVar
8854565:splice
8854565:variant
goto
c.2713-215T>G
1296518
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
5
9
11
83
a0001 a0018 a0024 a0037 a0041 a0001c0001 a0001c0002 a0001c0006 a0001c0060 a0001c0068 others(4): Hide a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0006t0002 others(6): Hide a0001c0001t0002g0146 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0001t0002g0289 others(78): Hide HG00099.hp2Hide
MODIFIER
chr12
T
G
TogoVar
8857942:splice
8857942:variant
goto
c.3108-3dupT
252784
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008162
+
2
4
4
13
a0001 a0041 a0001c0001 a0001c0002 a0001c0006 a0041c0059 a0001c0001t0002 a0001c0002t0002 a0001c0006t0002 a0041c0059t0002 a0001c0001t0002g0180 a0001c0001t0002g0289 a0001c0002t0002g0162 a0001c0002t0002g0214 a0001c0002t0002g0294 others(8): Hide HG00609.hp1Hide
HIGH
chr12
G
GT
TogoVar
8875971:splice
8875971:variant
goto
c.*2-87T>G
1239635
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
14
26
29
90
a0001 a0002 a0003 a0004 a0008 others(9): Hide a0001c0001 a0002c0003 a0002c0004 a0002c0007 a0002c0017 others(21): Hide a0001c0001t0003 a0002c0003t0001 a0002c0003t0004 a0002c0004t0003 a0002c0007t0003 others(24): Hide a0001c0001t0003g0008 a0001c0001t0003g0151 a0001c0001t0003g0157 a0001c0001t0003g0209 a0002c0003t0001g0303 others(85): Hide HG00099.hp1Hide
MODIFIER
chr12
T
G
TogoVar
8874833:splice
8874833:variant
goto
c.4325-138A>G
561567
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
6
12
13
63
a0001 a0002 a0003 a0008 a0021 others(1): Hide a0001c0001 a0002c0004 a0002c0007 a0002c0017 a0003c0005 others(7): Hide a0001c0001t0003 a0002c0004t0003 a0002c0007t0003 a0002c0017t0003 a0003c0005t0003 others(8): Hide a0001c0001t0003g0008 a0001c0001t0003g0151 a0001c0001t0003g0157 a0001c0001t0003g0209 a0002c0004t0003g0002 others(58): Hide HG00099.hp1Hide
MODIFIER
chr12
A
G
TogoVar
8850324:splice
8850324:variant
goto
c.2234+50C>T
1233818
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
1
1
1
2
a0001 a0001c0001 a0001c0001t0008 a0001c0001t0008g0100 a0001c0001t0008g0101 HG01515.hp1
MODIFIER
chr12
C
T
TogoVar
8857460:splice
8857460:variant
goto
c.3026-47T>C
1261284
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
1
1
1
2
a0001 a0001c0001 a0001c0001t0008 a0001c0001t0008g0100 a0001c0001t0008g0101 HG01515.hp1
MODIFIER
chr12
T
C
TogoVar
8864038:splice
8864038:variant
goto
c.3717+30A>T
1275913
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
1
1
1
2
a0001 a0001c0001 a0001c0001t0008 a0001c0001t0008g0100 a0001c0001t0008g0101 HG01515.hp1
MODIFIER
chr12
A
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
8843370:splice
8843370:variant
goto
c.1476+9G>A
384672
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900|MedGen:CN169374
+
10
20
26
77
a0001 a0002 a0003 a0004 a0008 others(5): Hide a0001c0002 a0001c0006 a0001c0060 a0002c0003 a0002c0004 others(15): Hide a0001c0002t0002 a0001c0006t0002 a0001c0060t0002 a0002c0003t0001 a0002c0003t0002 others(21): Hide a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0353 others(72): Hide HG00099.hp1Hide
MODIFIER
chr12
G
A
TogoVar
8843098:splice
8843098:variant
goto
c.1249-36A>G
1229824
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
6
13
15
45
a0001 a0002 a0003 a0004 a0020 others(1): Hide a0001c0002 a0001c0060 a0002c0003 a0002c0004 a0002c0007 others(8): Hide a0001c0002t0002 a0001c0060t0002 a0002c0003t0001 a0002c0003t0004 a0002c0004t0003 others(10): Hide a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0060t0002g0070 others(40): Hide HG00099.hp1Hide
MODIFIER
chr12
A
G
TogoVar
8837803:splice
8837803:variant
goto
c.855+237C>T
1225391
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
8
14
15
42
a0001 a0002 a0003 a0004 a0019 others(3): Hide a0001c0002 a0001c0060 a0002c0003 a0002c0004 a0002c0007 others(9): Hide a0001c0002t0002 a0001c0060t0002 a0002c0003t0001 a0002c0004t0003 a0002c0007t0003 others(10): Hide a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0060t0002g0070 others(37): Hide HG00099.hp1Hide
MODIFIER
chr12
C
T
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
8841017:splice
8841017:variant
goto
c.1081-352A>C
1581840
Likely_benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
1
1
1
1
a0001 a0001c0002 a0001c0002t0002 a0001c0002t0002g0334 NA19060.hp2
MODIFIER
chr12
A
C
TogoVar
8823305:splice
8823305:variant
goto
c.186C>Tp.Thr62Thr
384687
Benign
A2ML1:144568
SO:0001819
MedGen:C3661900|MedGen:CN169374
+
11
17
23
56
a0001 a0002 a0003 a0004 a0005 others(6): Hide a0001c0006 a0001c0008 a0001c0068 a0002c0007 a0002c0017 others(12): Hide a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0068t0002 a0002c0007t0001 others(18): Hide a0001c0006t0002g0009 a0001c0006t0002g0010 a0001c0006t0002g0226 a0001c0006t0002g0229 a0001c0006t0002g0231 others(51): Hide HG00544.hp2Hide
LOW
chr12
C
T
TogoVar
8860733:splice
8860733:variant
goto
c.3265-148G>A
561568
Benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
11
13
15
46
a0001 a0002 a0009 a0014 a0017 others(6): Hide a0001c0008 a0002c0003 a0002c0017 a0009c0015 a0014c0026 others(8): Hide a0001c0008t0001 a0002c0003t0001 a0002c0003t0002 a0002c0017t0002 a0009c0015t0001 others(10): Hide a0001c0008t0001g0004 a0001c0008t0001g0242 a0002c0003t0001g0047 a0002c0003t0001g0052 a0002c0003t0001g0059 others(41): Hide HG00438.hp2Hide
MODIFIER
chr12
G
A
TogoVar
8847987:splice
8847987:variant
goto
c.1833+305dupA
1318218
Likely_benign
A2ML1:144568
SO:0001627
MedGen:C3661900
+
6
6
6
8
a0001 a0002 a0003 a0008 a0013 others(1): Hide a0001c0008 a0002c0003 a0003c0005 a0008c0012 a0013c0021 others(1): Hide a0001c0008t0002 a0002c0003t0001 a0003c0005t0003 a0008c0012t0002 a0013c0021t0002 others(1): Hide a0001c0008t0002g0358 a0002c0003t0001g0089 a0003c0005t0003g0091 a0008c0012t0002g0043 a0008c0012t0002g0165 others(3): Hide HG01099.hp1Hide
MODIFIER
chr12
G
GA
TogoVar
8822235:splice
8822235:variant
goto
c.-417C>T
1317920
Likely_benign
A2ML1:144568
.
MedGen:C3661900
+
1
1
1
1
a0001 a0001c0046 a0001c0046t0001 a0001c0046t0001g0236 HG03209.hp2
MODIFIER
chr12
C
T
TogoVar
8851844:splice
8851844:variant
goto
c.2295G>Ap.Ala765Ala
241891
Benign
A2ML1:144568
SO:0001819
MedGen:C3661900|MedGen:CN169374
+
4
4
4
6
a0001 a0004 a0012 a0025 a0001c0046 a0004c0045 a0012c0022 a0025c0057 a0001c0046t0001 a0004c0045t0004 a0012c0022t0007 a0025c0057t0007 a0001c0046t0001g0236 a0004c0045t0004g0123 a0012c0022t0007g0018 a0012c0022t0007g0036 a0012c0022t0007g0042 others(1): Hide HG02055.hp2Hide
LOW
chr12
G
A
TogoVar
8823315:splice
8823315:variant
goto
c.196C>Tp.Leu66Leu
224929
Benign/Likely_benign
A2ML1:144568
SO:0001819
MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008162
+
1
1
1
1
a0001 a0001c0060 a0001c0060t0002 a0001c0060t0002g0070 NA21309.hp2
LOW
chr12
C
T
TogoVar
8854243:splice
8854243:variant
goto
c.2706C>Tp.Leu902Leu
700522
Likely_benign
A2ML1:144568
SO:0001819
MedGen:CN169374|MedGen:C3661900
+
1
1
1
1
a0001 a0001c0068 a0001c0068t0002 a0001c0068t0002g0333 HG03927.hp1
LOW
chr12
C
T
TogoVar
