Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
2765 chr17 31227548 G A
c.2351G>A
p.Trp784Ter
NF1
- 4.0
B
27053 chr17 31229061 C T
c.2446C>T
p.Arg816Ter
NF1
4.5
B
14971 chr17 31229136 A G
c.2521A>G
p.Thr841Ala
NF1
- 3.0
B
5484 chr17 31229140 GCTTC G
c.2529_2532del
p.Leu844ValfsTer33
NF1
- 4.0
B
24076 chr17 31229149 G A
c.2534G>A
p.Cys845Tyr
NF1
3.5
B
1246 chr17 31229232 C T
c.2617C>T
p.Arg873Cys
NF1
2.0
B
9356 chr17 31229276 AG A
c.2662del
p.Asp888IlefsTer14
NF1
- 4.0
B
16412 chr17 31229280 AC A
c.2666del
p.Thr889AsnfsTer13
NF1
- 4.0
B
706 chr17 31229300 G T
c.2685G>T
p.Met895Ile
NF1
- 2.5
B
25172 chr17 31229317 T A
c.2702T>A
p.Leu901Ter
NF1
- 4.0
B
8194 chr17 31229394 C T
c.2779C>T
p.Pro927Ser
NF1
- 3.0
B
11481 chr17 31229444 GT G
c.2835del
p.Phe945LeufsTer9
NF1
4.0
B
15368 chr17 31229457 C T
c.2842C>T
p.Gln948Ter
NF1
4.5
B
19929 chr17 31229474 T C
c.2850+9T>C
-
NF1
2.0
B
17713 chr17 31229857 C T
c.2873C>T
p.Thr958Ile
NF1
- 3.0
B
6712 chr17 31229925 G GA
c.2943dup
p.His982ThrfsTer6
NF1
- 4.0
B
1717 chr17 31229949 G T
c.2965G>T
p.Glu989Ter
NF1
- 4.0
B
19106 chr17 31229975 G A
c.2990+1G>A
p.?
NF1
4.5
B
12946 chr17 31230259 G A
c.2991-1G>A
p.?
NF1
4.0
B
16179 chr17 31230265 T C
c.2996T>C
p.Val999Ala
NF1
- 3.0
B