Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
34318 chr17 31233170 C T
c.3665C>T
p.Pro1222Leu
NF1
2.0
B
25270 chr17 31233197 T C
c.3692T>C
p.Val1231Ala
NF1
- 3.5
B
8577 chr17 31233214 G A
c.3708+1G>A
p.?
NF1
4.0
B
4106 chr17 31235623 C T
c.3721C>T
p.Arg1241Ter
NF1
5.0
B
6833 chr17 31235638 CTGTT C
c.3739_3742del
p.Phe1247IlefsTer18
NF1
4.5
B
29326 chr17 31235668 CT C
c.3767del
p.Leu1256ArgfsTer10
NF1
- 4.0
B
16658 chr17 31235675 G A
c.3773G>A
p.Trp1258Ter
NF1
4.5
B
19107 chr17 31235683 T C
c.3781T>C
p.Phe1261Leu
NF1
- 3.0
B
10352 chr17 31235703 GGCAGACTCCAT G
c.3810_3820del
p.Met1271LeufsTer9
NF1
4.0
B
11430 chr17 31235719 ACT A
c.3822_3823del
p.Phe1275ProfsTer8
NF1
4.5
B
1933 chr17 31235729 G A
c.3827G>A
p.Arg1276Gln
NF1
3.5
B
8960 chr17 31235734 A T
c.3832A>T
p.Asn1278Tyr
NF1
3.0
B
8885 chr17 31235752 A G
c.3850A>G
p.Ile1284Val
NF1
3.0
B
21894 chr17 31235963 C T
c.3916C>T
p.Arg1306Ter
NF1
4.5
B
7747 chr17 31236022 G T
c.3974+1G>T
p.?
NF1
- 4.5
B
19766 chr17 31248972 A AT
c.3975-5dup
-
NF1
2.0
B
7435 chr17 31248990 A C
c.3981A>C
p.Glu1327Asp
NF1
- 3.0
B
4612 chr17 31249030 C T
c.4021C>T
p.Gln1341Ter
NF1
5.0
B
6996 chr17 31249079 TC T
c.4076del
p.Pro1359LeufsTer19
NF1
4.5
B
8614 chr17 31249102 TGC T
c.4094_4095del
p.Cys1365SerfsTer14
NF1
- 4.0
B