Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
34519 chr17 18315913 G A
-
c.124G>A
-
p.Ala42Thr
3.0
B
4105 chr17 19379100 G C
c.200G>C
-
p.Gly67Ala
-
- 3.0
B
24318 chr17 20204837 C T
c.788C>T
p.Ser263Leu
3.0
B
19806 chr17 20204949 TA T
c.908del
p.Asn303ThrfsTer63
- 3.0
B
34302 chr17 20205547 G A
c.1498G>A
p.Glu500Lys
3.0
B
31223 chr17 20232408 G A
c.2351+3G>A
-
- 3.0
B
17080 chr17 20257446 C T
c.2681-5C>T
-
3.0
B
20144 chr17 28326780 GA G
c.528del
-
p.Lys176AsnfsTer188
-
3.0
B
19765 chr17 28326780 GAA G
c.527_528del
-
p.Lys176MetfsTer10
-
- 3.0
B
3716 chr17 28612362 A C
-
c.552T>G
-
p.Cys184Trp
- 3.0
B
13745 chr17 31095222 C A
c.-88C>A
-
NF1
- 3.0
B
26231 chr17 31095274 C T
c.-36C>T
-
NF1
- 3.0
B
24257 chr17 31155959 GT G
c.61-14del
-
NF1
2.0
B
15839 chr17 31155970 CT C
c.61-4del
-
NF1
2.5
B
1980 chr17 31155981 A G
c.61-2A>G
p.?
NF1
4.0
B
15322 chr17 31159031 G GA
c.233dup
p.Asn78LysfsTer29
NF1
- 4.5
B
31849 chr17 31159038 A T
c.233A>T
p.Asn78Ile
NF1
3.0
B
1577 chr17 31159044 ATC A
c.246_247del
p.Gln83ValfsTer23
NF1
5.0
B
9717 chr17 31159094 G T
c.288+1G>T
p.?
NF1
4.5
B
513 chr17 31163202 T G
c.305T>G
p.Met102Arg
NF1
- 3.0
B