Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
33580 chr17 31163247 T G
c.350T>G
p.Ile117Ser
NF1
3.0
B
33193 chr17 31163282 C T
c.385C>T
p.Gln129Ter
NF1
- 4.5
B
28043 chr17 31163300 C T
c.403C>T
p.Arg135Trp
NF1
2.5
B
33192 chr17 31163378 T C
c.479+2T>C
p.?
NF1
- 4.0
B
21127 chr17 31169890 G A
c.480-1G>A
p.?
NF1
4.5
B
27393 chr17 31169907 GTT G
c.498_499del
p.Cys167PhefsTer6
NF1
- 4.0
B
2442 chr17 31169937 G A
c.526G>A
p.Asp176Asn
NF1
- 3.0
B
7897 chr17 31169985 C T
c.574C>T
p.Arg192Ter
NF1
4.5
B
10488 chr17 31181424 A G
c.589A>G
p.Thr197Ala
NF1
3.0
B
33003 chr17 31181467 CA C
c.633del
p.Val212LeufsTer2
NF1
- 4.5
B
6087 chr17 31181718 G A
c.663G>A
p.Trp221Ter
NF1
4.5
B
5377 chr17 31181724 G T
c.669G>T
p.Trp223Cys
NF1
3.0
B
10535 chr17 31181725 G T
c.670G>T
p.Val224Leu
NF1
- 3.0
B
30717 chr17 31181771 A AGACT
c.719_722dup
p.Met242Ter
NF1
- 4.0
B
7492 chr17 31181786 G A
c.730+1G>A
p.?
NF1
4.5
B
1641 chr17 31182507 G A
c.731-1G>A
p.?
NF1
4.0
B
4611 chr17 31182666 G A
c.888+1G>A
p.?
NF1
4.0
B
35356 chr17 31200421 G T
c.889-1G>T
p.?
NF1
4.5
B
33579 chr17 31200435 AC A
c.903del
p.Asp301GlufsTer16
NF1
- 4.0
B
33581 chr17 31200443 C T
c.910C>T
p.Arg304Ter
NF1
4.5
B