Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
773 chr17 31261777 TC T
c.4646del
p.Pro1549GlnfsTer25
NF1
- 4.0
B
29449 chr17 31261854 C T
c.4721C>T
p.Thr1574Ile
NF1
3.0
B
27527 chr17 31261856 AG A
c.4724+1del
p.?
NF1
- 4.0
B
2067 chr17 31261859 T C
c.4724+2T>C
p.?
NF1
- 4.0
B
28771 chr17 31261868 A G
c.4724+11A>G
-
NF1
2.0
B
4209 chr17 31265222 C T
c.4725-7C>T
-
NF1
3.0
B
22132 chr17 31265233 C T
c.4729C>T
p.Gln1577Ter
NF1
4.5
B
33125 chr17 31265242 GAAAAAGAAGAA G
c.4739_4749del
p.Glu1580ValfsTer38
NF1
- 4.0
B
10923 chr17 31265251 G T
c.4747G>T
p.Glu1583Ter
NF1
4.0
B
33126 chr17 31265254 TTC T
c.4751_4752del
p.Phe1584Ter
NF1
- 4.0
B
28295 chr17 31265300 C T
c.4796C>T
p.Ser1599Phe
NF1
3.5
B
35358 chr17 31295758 T G
c.4836-30062T>G
c.574A>C
-
p.Asn192His
NF1
OMG
- 3.0
B
35359 chr17 31304996 G T
c.4836-20824G>T
c.614C>A
-
p.Ala205Asp
NF1
3.0
B
26525 chr17 31305502 T G
c.4836-20318T>G
c.108A>C
-
p.Leu36Phe
NF1
- 3.0
B
35360 chr17 31318479 T G
c.4836-7341T>G
-
c.535A>C
-
-
p.Ser179Arg
NF1
- 3.0
B
28047 chr17 31318730 T C
c.4836-7090T>C
-
c.284A>G
-
-
p.Tyr95Cys
NF1
- 3.0
B
28048 chr17 31320512 T C
c.4836-5308T>C
c.-11+983A>G
-
-
NF1
- 3.0
B
33619 chr17 31325808 C T
c.4836-12C>T
-
-
-
NF1
2.0
B
5594 chr17 31325820 G T
c.4836G>T
-
p.Arg1612Ser
-
NF1
3.5
B
33620 chr17 31325963 C T
c.4979C>T
-
p.Ser1660Phe
-
NF1
3.0
B