Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
28222 chr17 31249117 C T
c.4108C>T
p.Gln1370Ter
NF1
4.5
B
9258 chr17 31249119 G A
c.4110G>A
p.Gln1370=
NF1
3.5
B
24258 chr17 31252930 T A
c.4111-8T>A
-
NF1
- 3.0
B
34697 chr17 31252932 CTGTAGG C
c.4111-5_4111del
p.?
NF1
- 4.0
B
7689 chr17 31258386 GGAAGTGCCATGTTCCTCA G
c.4219_4236del
p.Ser1407_Arg1412del
NF1
- 3.0
B
19108 chr17 31258393 C T
c.4223C>T
p.Ala1408Val
NF1
- 3.0
B
9406 chr17 31258401 C T
c.4231C>T
p.Leu1411Phe
NF1
3.5
B
29782 chr17 31258446 A T
c.4276A>T
p.Ile1426Phe
NF1
- 3.0
B
21632 chr17 31258450 T A
c.4280T>A
p.Leu1427Ter
NF1
- 4.0
B
23789 chr17 31258476 G T
c.4306G>T
p.Glu1436Ter
NF1
5.0
B
35357 chr17 31258492 T G
c.4322T>G
p.Leu1441Ter
NF1
- 4.0
B
9760 chr17 31259035 CTTCAGAG C
c.4338_4344del
p.Gln1447LeufsTer20
NF1
- 4.0
B
3066 chr17 31259039 A C
c.4340A>C
p.Gln1447Pro
NF1
3.0
B
9837 chr17 31259068 AAAG A
c.4375_4377del
p.Glu1459del
NF1
3.5
B
4881 chr17 31259071 G A
c.4372G>A
p.Glu1458Lys
NF1
4.0
B
24719 chr17 31259126 GCAGGTAATTTTCTTGCCACTTACT G
c.4430+1_4430+24del
p.?
NF1
- 4.0
B
11342 chr17 31260463 CG C
c.4526del
p.Arg1509LeufsTer65
NF1
4.5
B
33941 chr17 31260477 C CA
c.4541dup
p.Asn1514LysfsTer16
NF1
- 4.0
B
8427 chr17 31260496 C T
c.4558C>T
p.Gln1520Ter
NF1
4.5
B
7709 chr17 31261709 A G
c.4578-2A>G
p.?
NF1
4.5
B