8852296:splice
8852296:variant
goto
c.2550C>Ap.Asp850Glu
1169145
Benign
A2ML1:144568
SO:0001583 missense_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(345): Hide
MODERATE
chr12
C
A
TogoVar
8863977:splice
8863977:variant
goto
c.3686A>Gp.His1229Arg
1169146
Benign
A2ML1:144568
SO:0001583 missense_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(345): Hide
MODERATE
chr12
A
G
TogoVar
8862003:splice
8862003:variant
goto
c.3502+706A>G
1294481
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(334): Hide
MODIFIER
chr12
A
G
TogoVar
8863613:splice
8863613:variant
goto
c.3503-181G>A
561526
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(334): Hide
MODIFIER
chr12
G
A
TogoVar
8864200:splice
8864200:variant
goto
c.3717+203delT
1233322
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(334): Hide
MODIFIER
chr12
CT
C
TogoVar
8864209:splice
8864209:variant
goto
c.3717+201T>G
1231958
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(334): Hide
MODIFIER
chr12
T
G
TogoVar
8835807:splice
8835807:variant
goto
c.643+141A>C
561551
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(343): Hide
MODIFIER
chr12
A
C
TogoVar
8835946:splice
8835946:variant
goto
c.643+280C>G
561807
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(343): Hide
MODIFIER
chr12
C
G
TogoVar
8839402:splice
8839402:variant
goto
c.1080+180C>A
561535
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(337): Hide
MODIFIER
chr12
C
A
TogoVar
8839526:splice
8839526:variant
goto
c.1080+304_1080+305insT
561809
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(337): Hide
MODIFIER
chr12
C
CT
TogoVar
8841616:splice
8841616:variant
goto
c.1248+80T>C
561520
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(337): Hide
MODIFIER
chr12
T
C
TogoVar
8834954:splice
8834954:variant
goto
c.483+272T>C
561806
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(341): Hide
MODIFIER
chr12
T
C
TogoVar
8836181:splice
8836181:variant
goto
c.644-74A>G
561539
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(316): Hide
MODIFIER
chr12
A
G
TogoVar
8851916:splice
8851916:variant
goto
c.2367G>Ap.Pro789Pro
383777
Benign
A2ML1:144568
SO:0001819 synonymous_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(330): Hide
LOW
chr12
G
A
TogoVar
8863611:splice
8863611:variant
goto
c.3503-183A>G
561525
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(333): Hide
MODIFIER
chr12
A
G
TogoVar
8876276:splice
8876276:variant
goto
c.*220G>A
1183668
Benign
A2ML1:144568
SO:0001624 3_prime_UTR_variant
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.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 others(213): Hide
MODIFIER
chr12
G
A
TogoVar
8854435:splice
8854435:variant
goto
c.2712+186C>G
561555
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 others(205): Hide
MODIFIER
chr12
C
G
TogoVar
8847987:splice
8847987:variant
goto
c.1833+305delA
1258252
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 others(192): Hide
MODIFIER
chr12
GA
G
TogoVar
8824168:splice
8824168:variant
goto
c.409+286A>G
561804
Benign
A2ML1:144568 A2ML1-AS1:100874108
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 others(202): Hide
MODIFIER
chr12
A
G
TogoVar
8838831:splice
8838831:variant
goto
c.971-282C>T
561808
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 others(9): Hide
MODIFIER
chr12
C
T
TogoVar
8837805:splice
8837805:variant
goto
c.855+239G>A
1296525
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00639.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 others(20): Hide
MODIFIER
chr12
G
A
TogoVar
8845245:splice
8845245:variant
goto
c.1477-197G>T
561532
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG01074.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 others(39): Hide
MODIFIER
chr12
G
T
TogoVar
8867647:splice
8867647:variant
goto
c.3718-182delA
1248975
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 others(18): Hide
MODIFIER
chr12
GA
G
TogoVar
8843370:splice
8843370:variant
goto
c.1476+9G>A
384672
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 others(74): Hide
MODIFIER
chr12
G
A
TogoVar
8868457:splice
8868457:variant
goto
c.4062-63_4062-62dupGT
1296535
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 others(19): Hide
MODIFIER
chr12
C
CGT
TogoVar
8857403:splice
8857403:variant
goto
c.3025+63_3025+64insAA
561563
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 others(97): Hide
MODIFIER
chr12
T
TAA
TogoVar
8848014:splice
8848014:variant
goto
c.1833+316A>G
561885
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00738.hp1 HG01074.hp1 HG01167.hp2 HG01168.hp1 others(42): Hide
MODIFIER
chr12
A
G
TogoVar
8846296:splice
8846296:variant
goto
c.1683+74A>G
561557
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00738.hp1 HG01074.hp1 HG01167.hp2 HG01168.hp1 others(36): Hide
MODIFIER
chr12
A
G
TogoVar
8867610:splice
8867610:variant
goto
c.3718-232G>A
1180966
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 others(17): Hide
MODIFIER
chr12
G
A
TogoVar
8867732:splice
8867732:variant
goto
c.3718-110T>C
561611
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 others(17): Hide
MODIFIER
chr12
T
C
TogoVar
8867967:splice
8867967:variant
goto
c.3843T>Cp.Val1281Val
384726
Benign
A2ML1:144568
SO:0001819 synonymous_variant
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.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 others(17): Hide
LOW
chr12
T
C
TogoVar
8868198:splice
8868198:variant
goto
c.3934-32G>C
561612
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 others(17): Hide
MODIFIER
chr12
G
C
TogoVar
8868200:splice
8868200:variant
goto
c.3934-30C>T
561613
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 others(17): Hide
MODIFIER
chr12
C
T
TogoVar
8868425:splice
8868425:variant
goto
c.4061+68T>C
1261805
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 others(17): Hide
MODIFIER
chr12
T
C
TogoVar
8868687:splice
8868687:variant
goto
c.4152+60A>T
561614
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 others(17): Hide
MODIFIER
chr12
A
T
TogoVar
8835656:splice
8835656:variant
goto
c.633G>Ap.Val211Val
413813
Benign
A2ML1:144568
SO:0001819 synonymous_variant
MedGen:C3661900|.|MedGen:CN169374
+
2
3
3
3
a0004 a0032
a0004c0040 a0004c0042 a0032c0041
a0004c0040t0004 a0004c0042t0002 a0032c0041t0001
a0004c0040t0004g0219 a0004c0042t0002g0013 a0032c0041t0001g0221
HG01261.hp2 HG02717.hp1 NA20300.hp2
LOW
chr12
G
A
TogoVar
8841013:splice
8841013:variant
goto
c.1081-335_1081-332dupGGAA
1571311
Likely_benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
8
10
12
16
a0004 a0008 a0017 a0021 a0032 others(3): Hide
a0004c0040 a0008c0012 a0008c0024 a0008c0038 a0017c0018 others(5): Hide
a0004c0040t0004 a0008c0012t0002 a0008c0024t0003 a0008c0024t0004 a0008c0038t0003 others(7): Hide
a0004c0040t0004g0219 a0008c0012t0002g0043 a0008c0012t0002g0076 a0008c0012t0002g0165 a0008c0012t0002g0167 others(11): Hide
HG01884.hp2 HG01952.hp1 HG02257.hp1 HG02559.hp2 HG02717.hp1 others(11): Hide
MODIFIER
chr12
C
CGGAA
TogoVar
8856898:splice
8856898:variant
goto
c.2849-253_2849-247delTTTTTTT
1235050
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
8
9
9
14
a0004 a0006 a0012 a0016 a0025 others(3): Hide
a0004c0042 a0006c0011 a0012c0022 a0016c0030 a0016c0043 others(4): Hide
a0004c0042t0002 a0006c0011t0005 a0012c0022t0007 a0016c0030t0002 a0016c0043t0002 others(4): Hide
a0004c0042t0002g0013 a0006c0011t0005g0127 a0006c0011t0005g0164 a0006c0011t0005g0220 a0012c0022t0007g0018 others(9): Hide
HG01074.hp1 HG01261.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 others(9): Hide
MODIFIER
chr12
CTTTTTTT
C
TogoVar
8856966:splice
8856966:variant
goto
c.2849-198G>A
1236777
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
8
9
9
14
a0004 a0006 a0012 a0016 a0025 others(3): Hide
a0004c0042 a0006c0011 a0012c0022 a0016c0030 a0016c0043 others(4): Hide
a0004c0042t0002 a0006c0011t0005 a0012c0022t0007 a0016c0030t0002 a0016c0043t0002 others(4): Hide
a0004c0042t0002g0013 a0006c0011t0005g0127 a0006c0011t0005g0164 a0006c0011t0005g0220 a0012c0022t0007g0018 others(9): Hide
HG01074.hp1 HG01261.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 others(9): Hide
MODIFIER
chr12
G
A
TogoVar
8857041:splice
8857041:variant
goto
c.2849-123C>T
1285724
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
8
9
9
14
a0004 a0006 a0012 a0016 a0025 others(3): Hide
a0004c0042 a0006c0011 a0012c0022 a0016c0030 a0016c0043 others(4): Hide
a0004c0042t0002 a0006c0011t0005 a0012c0022t0007 a0016c0030t0002 a0016c0043t0002 others(4): Hide
a0004c0042t0002g0013 a0006c0011t0005g0127 a0006c0011t0005g0164 a0006c0011t0005g0220 a0012c0022t0007g0018 others(9): Hide
HG01074.hp1 HG01261.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 others(9): Hide
MODIFIER
chr12
C
T
TogoVar
8857135:splice
8857135:variant
goto
c.2849-29T>C
1282494
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
8
9
9
14
a0004 a0006 a0012 a0016 a0025 others(3): Hide
a0004c0042 a0006c0011 a0012c0022 a0016c0030 a0016c0043 others(4): Hide
a0004c0042t0002 a0006c0011t0005 a0012c0022t0007 a0016c0030t0002 a0016c0043t0002 others(4): Hide
a0004c0042t0002g0013 a0006c0011t0005g0127 a0006c0011t0005g0164 a0006c0011t0005g0220 a0012c0022t0007g0018 others(9): Hide
HG01074.hp1 HG01261.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 others(9): Hide
MODIFIER
chr12
T
C
TogoVar
8857454:splice
8857454:variant
goto
c.3026-53G>A
1297996
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
8
9
9
14
a0004 a0006 a0012 a0016 a0025 others(3): Hide
a0004c0042 a0006c0011 a0012c0022 a0016c0030 a0016c0043 others(4): Hide
a0004c0042t0002 a0006c0011t0005 a0012c0022t0007 a0016c0030t0002 a0016c0043t0002 others(4): Hide
a0004c0042t0002g0013 a0006c0011t0005g0127 a0006c0011t0005g0164 a0006c0011t0005g0220 a0012c0022t0007g0018 others(9): Hide
HG01074.hp1 HG01261.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 others(9): Hide
MODIFIER
chr12
G
A
TogoVar
8857677:splice
8857677:variant
goto
c.3107+89C>T
1272923
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
8
9
9
14
a0004 a0006 a0012 a0016 a0025 others(3): Hide
a0004c0042 a0006c0011 a0012c0022 a0016c0030 a0016c0043 others(4): Hide
a0004c0042t0002 a0006c0011t0005 a0012c0022t0007 a0016c0030t0002 a0016c0043t0002 others(4): Hide
a0004c0042t0002g0013 a0006c0011t0005g0127 a0006c0011t0005g0164 a0006c0011t0005g0220 a0012c0022t0007g0018 others(9): Hide
HG01074.hp1 HG01261.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 others(9): Hide
MODIFIER
chr12
C
T
TogoVar
8858210:splice
8858210:variant
goto
c.3264+108A>G
1233270
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
8
9
9
14
a0004 a0006 a0012 a0016 a0025 others(3): Hide
a0004c0042 a0006c0011 a0012c0022 a0016c0030 a0016c0043 others(4): Hide
a0004c0042t0002 a0006c0011t0005 a0012c0022t0007 a0016c0030t0002 a0016c0043t0002 others(4): Hide
a0004c0042t0002g0013 a0006c0011t0005g0127 a0006c0011t0005g0164 a0006c0011t0005g0220 a0012c0022t0007g0018 others(9): Hide
HG01074.hp1 HG01261.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 others(9): Hide
MODIFIER
chr12
A
G
TogoVar
8855681:splice
8855681:variant
goto
c.2848+89C>T
1246096
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
9
10
10
13
a0004 a0012 a0016 a0017 a0025 others(4): Hide
a0004c0042 a0012c0022 a0016c0030 a0016c0043 a0017c0018 others(5): Hide
a0004c0042t0002 a0012c0022t0007 a0016c0030t0002 a0016c0043t0002 a0017c0018t0001 others(5): Hide
a0004c0042t0002g0013 a0012c0022t0007g0018 a0012c0022t0007g0036 a0012c0022t0007g0042 a0016c0030t0002g0022 others(8): Hide
HG01261.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 others(8): Hide
MODIFIER
chr12
C
T
TogoVar
8855691:splice
8855691:variant
goto
c.2848+99A>G
1273811
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
9
10
10
13
a0004 a0012 a0016 a0017 a0025 others(4): Hide
a0004c0042 a0012c0022 a0016c0030 a0016c0043 a0017c0018 others(5): Hide
a0004c0042t0002 a0012c0022t0007 a0016c0030t0002 a0016c0043t0002 a0017c0018t0001 others(5): Hide
a0004c0042t0002g0013 a0012c0022t0007g0018 a0012c0022t0007g0036 a0012c0022t0007g0042 a0016c0030t0002g0022 others(8): Hide
HG01261.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 others(8): Hide
MODIFIER
chr12
A
G
TogoVar
8855695:splice
8855695:variant
goto
c.2848+103A>G
1283219
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
9
10
10
13
a0004 a0012 a0016 a0017 a0025 others(4): Hide
a0004c0042 a0012c0022 a0016c0030 a0016c0043 a0017c0018 others(5): Hide
a0004c0042t0002 a0012c0022t0007 a0016c0030t0002 a0016c0043t0002 a0017c0018t0001 others(5): Hide
a0004c0042t0002g0013 a0012c0022t0007g0018 a0012c0022t0007g0036 a0012c0022t0007g0042 a0016c0030t0002g0022 others(8): Hide
HG01261.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 others(8): Hide
MODIFIER
chr12
A
G
TogoVar
8823514:splice
8823514:variant
goto
c.246+149A>G
1317396
Likely_benign
A2ML1:144568 A2ML1-AS1:100874108
SO:0001627 intron_variant
MedGen:C3661900
+
2
2
2
2
a0006 a0032
a0006c0011 a0032c0041
a0006c0011t0005 a0032c0041t0001
a0006c0011t0005g0220 a0032c0041t0001g0221
HG02717.hp1 HG03579.hp1
MODIFIER
chr12
A
G
TogoVar
8847367:splice
8847367:variant
goto
c.1684-182C>T
1277990
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
5
6
6
10
a0010 a0012 a0025 a0032 a0038
a0010c0020 a0010c0065 a0012c0022 a0025c0057 a0032c0041 others(1): Hide
a0010c0020t0005 a0010c0065t0005 a0012c0022t0007 a0025c0057t0007 a0032c0041t0001 others(1): Hide
a0010c0020t0005g0023 a0010c0020t0005g0024 a0010c0020t0005g0037 a0010c0065t0005g0313 a0012c0022t0007g0018 others(5): Hide
HG01168.hp1 HG01169.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 others(5): Hide
MODIFIER
chr12
C
T
TogoVar
8846492:splice
8846492:variant
goto
c.1683+270G>T
1316674
Likely_benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
2
3
3
5
a0010 a0032
a0010c0020 a0010c0065 a0032c0041
a0010c0020t0005 a0010c0065t0005 a0032c0041t0001
a0010c0020t0005g0023 a0010c0020t0005g0024 a0010c0020t0005g0037 a0010c0065t0005g0313 a0032c0041t0001g0221
HG01168.hp1 HG01169.hp1 HG02717.hp1 HG02922.hp1 HG03225.hp1
MODIFIER
chr12
G
T
TogoVar
8848518:splice
8848518:variant
goto
c.1834-202G>A
1316320
Likely_benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
2
3
3
5
a0010 a0032
a0010c0020 a0010c0065 a0032c0041
a0010c0020t0005 a0010c0065t0005 a0032c0041t0001
a0010c0020t0005g0023 a0010c0020t0005g0024 a0010c0020t0005g0037 a0010c0065t0005g0313 a0032c0041t0001g0221
HG01168.hp1 HG01169.hp1 HG02717.hp1 HG02922.hp1 HG03225.hp1
MODIFIER
chr12
G
A
TogoVar
8850473:splice
8850473:variant
goto
c.2234+199T>C
1316323
Likely_benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
2
3
3
5
a0010 a0032
a0010c0020 a0010c0065 a0032c0041
a0010c0020t0005 a0010c0065t0005 a0032c0041t0001
a0010c0020t0005g0023 a0010c0020t0005g0024 a0010c0020t0005g0037 a0010c0065t0005g0313 a0032c0041t0001g0221
HG01168.hp1 HG01169.hp1 HG02717.hp1 HG02922.hp1 HG03225.hp1
MODIFIER
chr12
T
C
TogoVar
8861175:splice
8861175:variant
goto
c.3380C>Tp.Ser1127Leu
241904
Benign
A2ML1:144568
SO:0001583 missense_variant
MedGen:C3661900|MedGen:CN169374
+
2
3
3
5
a0010 a0032
a0010c0020 a0010c0065 a0032c0041
a0010c0020t0005 a0010c0065t0005 a0032c0041t0001
a0010c0020t0005g0023 a0010c0020t0005g0024 a0010c0020t0005g0037 a0010c0065t0005g0313 a0032c0041t0001g0221
HG01168.hp1 HG01169.hp1 HG02717.hp1 HG02922.hp1 HG03225.hp1
MODERATE
chr12
C
T
TogoVar