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
8867893:splice
8867893:variant
goto
c.3769A>Gp.Met1257Val
384670
Benign
A2ML1:144568
SO:0001583 missense_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(313): Hide
MODERATE
chr12
A
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
8838217:splice
8838217:variant
goto
c.856-119A>G
561533
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(321): Hide
MODIFIER
chr12
A
G
TogoVar
8868316:splice
8868316:variant
goto
c.4020A>Gp.Gln1340Gln
384671
Benign
A2ML1:144568
SO:0001819 synonymous_variant
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.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 others(238): Hide
LOW
chr12
A
G
TogoVar
8868720:splice
8868720:variant
goto
c.4152+107_4152+108dupCA
1278491
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 others(237): Hide
MODIFIER
chr12
T
TAC
TogoVar
8852071:splice
8852071:variant
goto
c.2463+59G>C
561554
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 others(206): Hide
MODIFIER
chr12
G
C
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
8868457:splice
8868457:variant
goto
c.4062-65_4062-62dupGTGT
1259205
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 others(219): Hide
MODIFIER
chr12
C
CGTGT
TogoVar
8837320:splice
8837320:variant
goto
c.729-120A>G
561552
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(311): Hide
MODIFIER
chr12
A
G
TogoVar
8838650:splice
8838650:variant
goto
c.970+200C>T
561553
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(307): Hide
MODIFIER
chr12
C
T
TogoVar
8839374:splice
8839374:variant
goto
c.1080+152G>A
561534
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(307): Hide
MODIFIER
chr12
G
A
TogoVar
8839534:splice
8839534:variant
goto
c.1080+318_1080+320delAAG
561810
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(307): Hide
MODIFIER
chr12
TAGA
T
TogoVar
8841013:splice
8841013:variant
goto
c.1081-339_1081-332delGGAAGGAA
1668934
Likely_benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(314): Hide
MODIFIER
chr12
CGGAAGGA others(1): Hide
C
TogoVar
8837891:splice
8837891:variant
goto
c.855+342_855+343delAA
1181893
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(304): Hide
MODIFIER
chr12
GAA
G
TogoVar
8836012:splice
8836012:variant
goto
c.644-221dupA
1237886
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp1 others(50): Hide
MODIFIER
chr12
C
CA
TogoVar
8838914:splice
8838914:variant
goto
c.971-177dupA
1331192
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG01168.hp1 HG01169.hp1 HG02055.hp2 HG02280.hp1 others(10): Hide
MODIFIER
chr12
T
TA
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
8875971:splice
8875971:variant
goto
c.*2-87T>G
1239635
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00423.hp2 HG00544.hp2 HG00609.hp2 HG00639.hp1 others(88): Hide
MODIFIER
chr12
T
G
TogoVar
8851844:splice
8851844:variant
goto
c.2295G>Ap.Ala765Ala
241891
Benign
A2ML1:144568
SO:0001819 synonymous_variant
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.hp2 HG02109.hp2 HG02145.hp2 HG02895.hp1 HG03195.hp1 others(1): Hide
LOW
chr12
G
A
TogoVar
8868660:splice
8868660:variant
goto
c.4152+33C>T
561565
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
17
26
38
129
a0002 a0003 a0008 a0009 a0012 others(12): Hide
a0002c0003 a0002c0004 a0002c0007 a0002c0017 a0002c0061 others(21): Hide
a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0004t0001 a0002c0004t0003 others(33): Hide
a0002c0003t0001g0047 a0002c0003t0001g0052 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0087 others(124): Hide
HG00099.hp1 HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 others(127): Hide
MODIFIER
chr12
C
T
TogoVar
8868929:splice
8868929:variant
goto
c.4153-206C>A
561566
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
17
26
38
129
a0002 a0003 a0008 a0009 a0012 others(12): Hide
a0002c0003 a0002c0004 a0002c0007 a0002c0017 a0002c0061 others(21): Hide
a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0004t0001 a0002c0004t0003 others(33): Hide
a0002c0003t0001g0047 a0002c0003t0001g0052 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0087 others(124): Hide
HG00099.hp1 HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 others(127): Hide
MODIFIER
chr12
C
A
TogoVar
8868834:splice
8868834:variant
goto
c.4152+207G>C
561570
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
13
16
21
64
a0002 a0009 a0012 a0014 a0017 others(8): Hide
a0002c0003 a0002c0017 a0002c0061 a0009c0015 a0012c0022 others(11): Hide
a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0017t0002 a0002c0017t0004 others(16): Hide
a0002c0003t0001g0047 a0002c0003t0001g0052 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0087 others(59): Hide
HG00280.hp1 HG00438.hp2 HG00673.hp2 HG00738.hp1 HG01099.hp1 others(60): Hide
MODIFIER
chr12
G
C
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
8847892:splice
8847892:variant
goto
c.1833+194T>C
561558
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00738.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp2 others(37): Hide
MODIFIER
chr12
T
C
TogoVar
8847911:splice
8847911:variant
goto
c.1833+213T>C
561559
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00738.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp2 others(37): Hide
MODIFIER
chr12
T
C
TogoVar
8848016:splice
8848016:variant
goto
c.1833+319_1833+320insTG
561886
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00738.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp2 others(37): Hide
MODIFIER
chr12
G
GGT
TogoVar
8849121:splice
8849121:variant
goto
c.2028+207T>C
561560
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00738.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp2 others(37): Hide
MODIFIER
chr12
T
C
TogoVar
8849393:splice
8849393:variant
goto
c.2029-276C>G
561887
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00738.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp2 others(37): Hide
MODIFIER
chr12
C
G
TogoVar
8850336:splice
8850336:variant
goto
c.2234+62A>G
561561
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00738.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp2 others(37): Hide
MODIFIER
chr12
A
G
TogoVar
8850431:splice
8850431:variant
goto
c.2234+157T>A
561562
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00738.hp1 HG01074.hp1 HG01167.hp2 HG01169.hp2 others(37): Hide
MODIFIER
chr12
T
A
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
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
8847245:splice
8847245:variant
goto
c.1684-285delA
1244864
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
4
5
5
9
a0010 a0012 a0025 a0038
a0010c0020 a0010c0065 a0012c0022 a0025c0057 a0038c0039
a0010c0020t0005 a0010c0065t0005 a0012c0022t0007 a0025c0057t0007 a0038c0039t0002
a0010c0020t0005g0023 a0010c0020t0005g0024 a0010c0020t0005g0037 a0010c0065t0005g0313 a0012c0022t0007g0018 others(4): Hide
HG01168.hp1 HG01169.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 others(4): Hide
MODIFIER
chr12
TA
T
TogoVar
8845874:splice
8845874:variant
goto
c.1538-203T>A
1317830
Likely_benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
4
4
4
7
a0010 a0012 a0025 a0038
a0010c0020 a0012c0022 a0025c0057 a0038c0039
a0010c0020t0005 a0012c0022t0007 a0025c0057t0007 a0038c0039t0002
a0010c0020t0005g0023 a0010c0020t0005g0037 a0012c0022t0007g0018 a0012c0022t0007g0036 a0012c0022t0007g0042 others(2): Hide
HG01169.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG03195.hp1 others(2): Hide
MODIFIER
chr12
T
A
TogoVar
8835613:splice
8835613:variant
goto
c.590C>Tp.Thr197Ile
241911
Benign/Likely_benign
A2ML1:144568
SO:0001583 missense_variant
MedGen:CN169374|MedGen:C3661900
+
2
2
2
4
a0012 a0025
a0012c0022 a0025c0057
a0012c0022t0007 a0025c0057t0007
a0012c0022t0007g0018 a0012c0022t0007g0036 a0012c0022t0007g0042 a0025c0057t0007g0035
HG02055.hp2 HG02109.hp2 HG02145.hp2 HG03195.hp1
MODERATE
chr12
C
T
TogoVar
8843668:splice
8843668:variant
goto
c.1476+307G>A
1316717
Likely_benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
3
3
3
5
a0012 a0025 a0038
a0012c0022 a0025c0057 a0038c0039
a0012c0022t0007 a0025c0057t0007 a0038c0039t0002
a0012c0022t0007g0018 a0012c0022t0007g0036 a0012c0022t0007g0042 a0025c0057t0007g0035 a0038c0039t0002g0015
HG02055.hp2 HG02109.hp2 HG02145.hp2 HG03195.hp1 NA19043.hp2
MODIFIER
chr12
G
A
TogoVar
8867993:splice
8867993:variant
goto
c.3869C>Ap.Thr1290Asn
697906
Likely_benign
A2ML1:144568
SO:0001583 missense_variant
MedGen:C3661900|.
+
1
1
1
1
a0025
a0025c0057
a0025c0057t0007
a0025c0057t0007g0035
HG02055.hp2
MODERATE
chr12
C
A
TogoVar