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
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
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
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
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
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
8847245:splice
8847245:variant
goto
c.1684-285dupA
1225716
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 others(273): Hide
MODIFIER
chr12
T
TA
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
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
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
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
8824184:splice
8824184:variant
goto
c.409+302T>C
561805
Benign
A2ML1:144568 A2ML1-AS1:100874108
SO:0001627 intron_variant
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.hp1 HG00280.hp1 HG00280.hp2 HG00558.hp2 HG00639.hp1 others(92): Hide
MODIFIER
chr12
T
C
TogoVar
8842927:splice
8842927:variant
goto
c.1249-207C>G
561521
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00609.hp2 others(136): Hide
MODIFIER
chr12
C
G
TogoVar
8836481:splice
8836481:variant
goto
c.728+161delT
1231791
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00280.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 others(74): Hide
MODIFIER
chr12
CT
C
TogoVar
8838914:splice
8838914:variant
goto
c.971-177delA
1245555
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 others(31): Hide
MODIFIER
chr12
TA
T
TogoVar
8841013:splice
8841013:variant
goto
c.1081-356C>A
1668925
Likely_benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
3
4
4
4
a0001 a0004 a0033
a0001c0001 a0001c0002 a0004c0042 a0033c0049
a0001c0001t0001 a0001c0002t0002 a0004c0042t0002 a0033c0049t0001
a0001c0001t0001g0071 a0001c0002t0002g0334 a0004c0042t0002g0013 a0033c0049t0001g0021
HG01261.hp2 HG01891.hp1 NA19043.hp1 NA19060.hp2
MODIFIER
chr12
C
A
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
8829909:splice
8829909:variant
goto
c.462+130C>T
1291261
Benign
A2ML1:144568 A2ML1-AS1:100874108
SO:0001627 intron_variant
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.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG02145.hp1 others(8): 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
8829654:splice
8829654:variant
goto
c.410-51dupA
1259076
Benign
A2ML1:144568 A2ML1-AS1:100874108
SO:0001627 intron_variant
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.hp1 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 others(45): Hide
MODIFIER
chr12
C
CA
TogoVar
8854896:splice
8854896:variant
goto
c.2764+80_2764+81dupTT
1253886
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG01168.hp1 others(22): Hide
MODIFIER
chr12
A
ATT
TogoVar
8836481:splice
8836481:variant
goto
c.728+161dupT
1284067
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG01261.hp1 HG01516.hp1 HG02145.hp1 HG02451.hp2 others(14): Hide
MODIFIER
chr12
C
CT
TogoVar
8868457:splice
8868457:variant
goto
c.4062-67_4062-62dupGTGTGT
1253290
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01255.hp1 others(18): Hide
MODIFIER
chr12
C
CGTGTGT
TogoVar
8829654:splice
8829654:variant
goto
c.410-51delA
1296522
Benign
A2ML1:144568 A2ML1-AS1:100874108
SO:0001627 intron_variant
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.hp1 HG02055.hp1 HG02451.hp2 HG02647.hp1 HG03471.hp2 others(9): Hide
MODIFIER
chr12
CA
C
TogoVar
8822219:splice
8822219:variant
goto
c.-433T>C
561801
Benign
A2ML1:144568 A2ML1-AS1:100874108
.
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.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 others(167): Hide
MODIFIER
chr12
T
C
TogoVar
8823009:splice
8823009:variant
goto
c.63-173A>G
561550
Benign
A2ML1:144568 A2ML1-AS1:100874108
SO:0001627 intron_variant
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.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 others(143): Hide
MODIFIER
chr12
A
G
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
8845865:splice
8845865:variant
goto
c.1538-193_1538-184dupTAAAATAAAA
1244579
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 others(39): Hide
MODIFIER
chr12
T
TAAATAAA others(3): Hide
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
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
8843098:splice
8843098:variant
goto
c.1249-36A>G
1229824
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 others(42): Hide
MODIFIER
chr12
A
G
TogoVar
8837803:splice
8837803:variant
goto
c.855+237C>T
1225391
Benign
A2ML1:144568
SO:0001627 intron_variant
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.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 others(39): Hide
MODIFIER
chr12
C
T
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
8823305:splice
8823305:variant
goto
c.186C>Tp.Thr62Thr
384687
Benign
A2ML1:144568 A2ML1-AS1:100874108
SO:0001819 synonymous_variant
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.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 others(52): Hide
LOW
chr12
C
T
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
8862121:splice
8862121:variant
goto
c.3502+824T>C
1248162
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
16
25
30
79
a0002 a0004 a0009 a0011 a0014 others(11): Hide
a0002c0003 a0002c0017 a0002c0061 a0004c0014 a0004c0029 others(20): Hide
a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0017t0002 a0002c0017t0004 others(25): Hide
a0002c0003t0001g0047 a0002c0003t0001g0052 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0087 others(74): Hide
HG00280.hp1 HG00438.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp1 others(76): Hide
MODIFIER
chr12
T
C
TogoVar
8836068:splice
8836068:variant
goto
c.644-187A>G
1247117
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
5
8
8
11
a0002 a0004 a0009 a0011 a0030
a0002c0003 a0004c0014 a0004c0029 a0004c0045 a0004c0053 others(3): Hide
a0002c0003t0002 a0004c0014t0004 a0004c0029t0004 a0004c0045t0004 a0004c0053t0004 others(3): Hide
a0002c0003t0002g0347 a0004c0014t0004g0215 a0004c0029t0004g0007 a0004c0045t0004g0123 a0004c0053t0004g0344 others(6): Hide
HG00639.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 others(7): Hide
MODIFIER
chr12
A
G
TogoVar
8834821:splice
8834821:variant
goto
c.483+139A>G
1178074
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
5
7
7
10
a0002 a0004 a0009 a0011 a0030
a0002c0003 a0004c0029 a0004c0045 a0004c0053 a0009c0015 others(2): Hide
a0002c0003t0002 a0004c0029t0004 a0004c0045t0004 a0004c0053t0004 a0009c0015t0001 others(2): Hide
a0002c0003t0002g0347 a0004c0029t0004g0007 a0004c0045t0004g0123 a0004c0053t0004g0344 a0009c0015t0001g0128 others(5): Hide
HG00639.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 others(6): Hide
MODIFIER
chr12
A
G
TogoVar
8874764:splice
8874764:variant
goto
c.4325-207A>G
1262579
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
4
9
9
13
a0002 a0004 a0017 a0036
a0002c0003 a0002c0017 a0002c0061 a0004c0029 a0004c0045 others(4): Hide
a0002c0003t0004 a0002c0017t0004 a0002c0061t0004 a0004c0029t0004 a0004c0045t0004 others(4): Hide
a0002c0003t0004g0031 a0002c0003t0004g0061 a0002c0003t0004g0292 a0002c0003t0004g0336 a0002c0003t0004g0355 others(8): Hide
HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01952.hp1 HG02148.hp2 others(9): Hide
MODIFIER
chr12
A
G
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
8856898:splice
8856898:variant
goto
c.2849-249_2849-247delTTT
1227061
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
8
14
19
74
a0002 a0003 a0004 a0008 a0010 others(3): Hide
a0002c0004 a0002c0007 a0003c0005 a0003c0010 a0003c0023 others(9): Hide
a0002c0004t0001 a0002c0004t0003 a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 others(14): Hide
a0002c0004t0001g0299 a0002c0004t0001g0338 a0002c0004t0003g0002 a0002c0004t0003g0020 a0002c0004t0003g0034 others(69): Hide
HG00099.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp2 HG00733.hp1 others(71): Hide
MODIFIER
chr12
CTTT
C
TogoVar
8858075:splice
8858075:variant
goto
c.3237G>Ap.Val1079Val
383783
Benign
A2ML1:144568
SO:0001819 synonymous_variant
MedGen:C3661900|MedGen:CN169374
+
8
15
20
68
a0002 a0003 a0004 a0008 a0021 others(3): Hide
a0002c0004 a0002c0007 a0003c0005 a0003c0010 a0003c0023 others(10): Hide
a0002c0004t0001 a0002c0004t0003 a0002c0007t0001 a0002c0007t0002 a0002c0007t0003 others(15): Hide
a0002c0004t0001g0299 a0002c0004t0001g0338 a0002c0004t0003g0002 a0002c0004t0003g0020 a0002c0004t0003g0034 others(63): Hide
HG00099.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp2 HG00733.hp1 others(66): Hide
LOW
chr12
G
A
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
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
8845319:splice
8845319:variant
goto
c.1477-123C>T
561575
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
9
14
14
20
a0002 a0004 a0014 a0015 a0016 others(4): Hide
a0002c0004 a0002c0061 a0004c0014 a0004c0040 a0004c0042 others(9): Hide
a0002c0004t0003 a0002c0061t0004 a0004c0014t0004 a0004c0040t0004 a0004c0042t0002 others(9): Hide
a0002c0004t0003g0124 a0002c0061t0004g0314 a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 others(15): Hide
HG01261.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02280.hp1 others(15): Hide
MODIFIER
chr12
C
T
TogoVar
8847245:splice
8847245:variant
goto
c.1684-287_1684-285delAAA
1177894
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
13
21
22
32
a0002 a0004 a0009 a0011 a0014 others(8): Hide
a0002c0004 a0002c0061 a0004c0014 a0004c0029 a0004c0040 others(16): Hide
a0002c0004t0003 a0002c0061t0004 a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 others(17): Hide
a0002c0004t0003g0124 a0002c0061t0004g0314 a0004c0014t0004g0159 a0004c0014t0004g0237 a0004c0014t0004g0238 others(27): Hide
HG00639.hp1 HG00738.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 others(28): Hide
MODIFIER
chr12
TAAA
T
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
8863722:splice
8863722:variant
goto
c.3503-72T>C
1228926
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
5
11
11
16
a0004 a0015 a0030 a0034 a0039
a0004c0014 a0004c0029 a0004c0040 a0004c0045 a0004c0047 others(6): Hide
a0004c0014t0004 a0004c0029t0004 a0004c0040t0004 a0004c0045t0004 a0004c0047t0004 others(6): Hide
a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0029t0004g0007 others(11): Hide
HG01167.hp2 HG01169.hp2 HG01192.hp1 HG02055.hp1 HG02148.hp2 others(12): Hide
MODIFIER
chr12
T
C
TogoVar
8863667:splice
8863667:variant
goto
c.3503-119delT
1279014
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
2
4
4
9
a0004 a0015
a0004c0014 a0004c0040 a0004c0064 a0015c0019
a0004c0014t0004 a0004c0040t0004 a0004c0064t0002 a0015c0019t0004
a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0040t0004g0219 others(4): Hide
HG02055.hp1 HG02886.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp1 others(4): Hide
MODIFIER
chr12
AT
A
TogoVar
8845862:splice
8845862:variant
goto
c.1538-212_1538-186delTAAATAAAATAAAATAAAATAAAATAA
1293255
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
5
6
6
11
a0004 a0014 a0015 a0017 a0033
a0004c0014 a0004c0064 a0014c0063 a0015c0019 a0017c0018 others(1): Hide
a0004c0014t0004 a0004c0064t0002 a0014c0063t0001 a0015c0019t0004 a0017c0018t0001 others(1): Hide
a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0064t0002g0351 others(6): Hide
HG01891.hp1 HG02055.hp1 HG02451.hp2 HG02886.hp1 HG03209.hp1 others(6): Hide
MODIFIER
chr12
AAATAAAT others(20): Hide
A
TogoVar
8874732:splice
8874732:variant
goto
c.4324+205G>A
1247875
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
5
6
6
11
a0004 a0015 a0030 a0034 a0039
a0004c0014 a0004c0064 a0015c0019 a0030c0051 a0034c0052 others(1): Hide
a0004c0014t0004 a0004c0064t0002 a0015c0019t0004 a0030c0051t0005 a0034c0052t0005 others(1): Hide
a0004c0014t0004g0159 a0004c0014t0004g0215 a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0064t0002g0351 others(6): Hide
HG02055.hp1 HG02572.hp1 HG02886.hp1 HG02895.hp2 HG02970.hp2 others(6): Hide
MODIFIER
chr12
G
A
TogoVar
8835326:splice
8835326:variant
goto
c.484-181T>C
561572
Likely_benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
1
1
1
1
a0004
a0004c0014
a0004c0014t0004
a0004c0014t0004g0215
HG02055.hp1
MODIFIER
chr12
T
C
TogoVar
8835328:splice
8835328:variant
goto
c.484-179A>T
561573
Likely_benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
1
1
1
1
a0004
a0004c0014
a0004c0014t0004
a0004c0014t0004g0215
HG02055.hp1
MODIFIER
chr12
A
T
TogoVar
8829981:splice
8829981:variant
goto
c.462+202A>C
561670
Benign
A2ML1:144568 A2ML1-AS1:100874108
SO:0001627 intron_variant
MedGen:C3661900
+
2
3
3
4
a0004 a0015
a0004c0014 a0004c0064 a0015c0019
a0004c0014t0004 a0004c0064t0002 a0015c0019t0004
a0004c0014t0004g0237 a0004c0014t0004g0238 a0004c0064t0002g0351 a0015c0019t0004g0014
HG03209.hp1 HG03486.hp1 HG06807.hp1 NA18522.hp1
MODIFIER
chr12
A
C
TogoVar
8856898:splice
8856898:variant
goto
c.2849-248_2849-247delTT
1265249
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
4
7
7
7
a0004 a0030 a0034 a0039
a0004c0029 a0004c0045 a0004c0047 a0004c0053 a0030c0051 others(2): Hide
a0004c0029t0004 a0004c0045t0004 a0004c0047t0004 a0004c0053t0004 a0030c0051t0005 others(2): Hide
a0004c0029t0004g0007 a0004c0045t0004g0123 a0004c0047t0004g0093 a0004c0053t0004g0344 a0030c0051t0005g0217 others(2): Hide
HG01167.hp2 HG01169.hp2 HG01192.hp1 HG02148.hp2 HG02572.hp1 others(3): Hide
MODIFIER
chr12
CTT
C
TogoVar
8862110:splice
8862110:variant
goto
c.3502+813G>A
1242201
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
4
7
7
7
a0004 a0030 a0034 a0039
a0004c0029 a0004c0045 a0004c0047 a0004c0053 a0030c0051 others(2): Hide
a0004c0029t0004 a0004c0045t0004 a0004c0047t0004 a0004c0053t0004 a0030c0051t0005 others(2): Hide
a0004c0029t0004g0007 a0004c0045t0004g0123 a0004c0047t0004g0093 a0004c0053t0004g0344 a0030c0051t0005g0217 others(2): Hide
HG01167.hp2 HG01169.hp2 HG01192.hp1 HG02148.hp2 HG02572.hp1 others(3): Hide
MODIFIER
chr12
G
A
TogoVar
8867656:splice
8867656:variant
goto
c.3718-186A>G
1265833
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
4
7
7
7
a0004 a0030 a0034 a0039
a0004c0029 a0004c0045 a0004c0047 a0004c0053 a0030c0051 others(2): Hide
a0004c0029t0004 a0004c0045t0004 a0004c0047t0004 a0004c0053t0004 a0030c0051t0005 others(2): Hide
a0004c0029t0004g0007 a0004c0045t0004g0123 a0004c0047t0004g0093 a0004c0053t0004g0344 a0030c0051t0005g0217 others(2): Hide
HG01167.hp2 HG01169.hp2 HG01192.hp1 HG02148.hp2 HG02572.hp1 others(3): Hide
MODIFIER
chr12
A
G
TogoVar
8861549:splice
8861549:variant
goto
c.3502+252G>A
1234133
Benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
2
5
5
5
a0004 a0034
a0004c0029 a0004c0045 a0004c0047 a0004c0053 a0034c0052
a0004c0029t0004 a0004c0045t0004 a0004c0047t0004 a0004c0053t0004 a0034c0052t0005
a0004c0029t0004g0007 a0004c0045t0004g0123 a0004c0047t0004g0093 a0004c0053t0004g0344 a0034c0052t0005g0360
HG01167.hp2 HG01169.hp2 HG01192.hp1 HG02148.hp2 HG02895.hp1 others(1): Hide
MODIFIER
chr12
G
A
TogoVar
8829797:splice
8829797:variant
goto
c.462+18G>A
928817
Benign
A2ML1:144568 A2ML1-AS1:100874108
SO:0001627 intron_variant
MedGen:CN169374|MedGen:C3661900
+
1
1
1
1
a0004
a0004c0040
a0004c0040t0004
a0004c0040t0004g0219
NA20300.hp2
MODIFIER
chr12
G
A
TogoVar
8829808:splice
8829808:variant
goto
c.462+29G>A
1318037
Likely_benign
A2ML1:144568 A2ML1-AS1:100874108
SO:0001627 intron_variant
MedGen:C3661900
+
1
1
1
1
a0004
a0004c0040
a0004c0040t0004
a0004c0040t0004g0219
NA20300.hp2
MODIFIER
chr12
G
A
TogoVar
8845861:splice
8845861:variant
goto
c.1538-212_1538-185delTAAATAAAATAAAATAAAATAAAATAAA
1318332
Likely_benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
1
1
1
1
a0004
a0004c0040
a0004c0040t0004
a0004c0040t0004g0219
NA20300.hp2
MODIFIER
chr12
AAAATAAA others(21): Hide
A
TogoVar
8875131:splice
8875131:variant
goto
c.*1+119G>T
1316307
Likely_benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
1
1
1
1
a0004
a0004c0040
a0004c0040t0004
a0004c0040t0004g0219
NA20300.hp2
MODIFIER
chr12
G
T
TogoVar
8838768:splice
8838768:variant
goto
c.970+318C>T
1316850
Likely_benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
2
3
3
3
a0004 a0021
a0004c0040 a0004c0042 a0021c0031
a0004c0040t0004 a0004c0042t0002 a0021c0031t0003
a0004c0040t0004g0219 a0004c0042t0002g0013 a0021c0031t0003g0361
HG01261.hp2 HG02922.hp2 NA20300.hp2
MODIFIER
chr12
C
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
8852452:splice
8852452:variant
goto
c.2590+116T>C
561634
Likely_benign
A2ML1:144568
SO:0001627 intron_variant
MedGen:C3661900
+
1
1
1
1
a0004
a0004c0042
a0004c0042t0002
a0004c0042t0002g0013
HG01261.hp2
MODIFIER
chr12
T
C
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