Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
26910 chr17 31325977 G T
c.4993G>T
-
p.Val1665Phe
-
NF1
- 3.5
B
34409 chr17 31325999 AC A
c.5016del
-
p.Asp1672GlufsTer26
-
NF1
4.5
B
29230 chr17 31326046 G T
c.5062G>T
-
p.Glu1688Ter
-
NF1
4.5
B
4181 chr17 31326085 A T
c.5101A>T
-
p.Lys1701Ter
-
NF1
- 4.0
B
27543 chr17 31326094 A T
c.5110A>T
-
p.Lys1704Ter
-
NF1
- 4.0
B
16115 chr17 31326239 A T
c.5255A>T
-
p.Lys1752Ile
-
NF1
- 3.0
B
31450 chr17 31326253 G A
c.5268+1G>A
-
p.?
-
NF1
- 4.5
B
25587 chr17 31327488 C G
c.5269-11C>G
-
NF1
- 3.0
B
19109 chr17 31327535 C T
c.5305C>T
p.Arg1769Ter
NF1
4.5
B
32088 chr17 31327597 A C
c.5367A>C
p.Glu1789Asp
NF1
- 3.0
B
4108 chr17 31327694 C T
c.5464C>T
p.Gln1822Ter
NF1
5.0
B
10787 chr17 31327762 G T
c.5532G>T
p.Lys1844Asn
NF1
- 3.0
B
1718 chr17 31327782 C T
c.5552C>T
p.Pro1851Leu
NF1
3.0
B
29393 chr17 31327785 G A
c.5555G>A
p.Gly1852Glu
NF1
- 3.0
B
13825 chr17 31327840 G C
c.5609+1G>C
p.?
NF1
- 4.5
B
22133 chr17 31327844 G A
c.5609+5G>A
-
NF1
4.0
B
3557 chr17 31330343 TA T
c.5662del
p.Ile1888SerfsTer6
NF1
4.0
B
13672 chr17 31330425 G C
c.5739G>C
p.Lys1913Asn
NF1
- 3.0
B
7469 chr17 31330499 G GT
c.5812+2dup
-
NF1
4.0
B
34234 chr17 31334872 GAC G
c.5848_5849del
p.Thr1950SerfsTer13
NF1
- 4.5
B