Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
29122 chr17 31214586 G T
c.1527+1G>T
p.?
NF1
4.0
B
22679 chr17 31218989 CT C
c.1528-9del
-
NF1
2.0
B
32554 chr17 31219035 GGCAGTACA G
c.1563_1570del
p.Ser521ArgfsTer34
NF1
- 4.0
B
15524 chr17 31221904 C A
c.1696C>A
p.Pro566Thr
NF1
- 3.0
B
15525 chr17 31221905 C G
c.1697C>G
p.Pro566Arg
NF1
- 3.0
B
9498 chr17 31221932 A G
c.1721+3A>G
-
NF1
4.0
B
8890 chr17 31223455 T G
c.1733T>G
p.Leu578Arg
NF1
3.5
B
28046 chr17 31223553 C A
c.1831C>A
p.Leu611Ile
NF1
- 3.0
B
11643 chr17 31225083 A AT
c.1846-5dup
-
NF1
2.0
B
25394 chr17 31225116 C T
c.1867C>T
p.His623Tyr
NF1
2.5
B
7940 chr17 31226459 A AC
c.2033dup
p.Ile679AspfsTer21
NF1
5.0
B
3553 chr17 31226459 AC A
c.2033del
p.Pro678ArgfsTer10
NF1
4.5
B
4284 chr17 31226463 C T
c.2030C>T
p.Pro677Leu
NF1
- 3.0
B
30966 chr17 31226474 C T
c.2041C>T
p.Arg681Ter
NF1
4.5
B
29205 chr17 31226483 C T
c.2050C>T
p.Gln684Ter
NF1
4.5
B
12783 chr17 31226501 G GC
c.2071dup
p.Leu691ProfsTer9
NF1
- 4.0
B
8355 chr17 31226564 C T
c.2131C>T
p.Arg711Cys
NF1
2.5
B
9235 chr17 31226651 G T
c.2218G>T
p.Glu740Ter
NF1
4.0
B
8807 chr17 31227521 A G
c.2326-2A>G
p.?
NF1
4.0
B
15752 chr17 31227527 G A
c.2330G>A
p.Trp777Ter
NF1
4.5
B