Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
21004 chr11 532746 C T
-
c.460G>A
-
p.Asp154Asn
2.5
B
29709 chr11 532749 C G
-
c.457G>C
-
p.Glu153Gln
- 3.0
B
31821 chr11 533311 GGGGTCCCAGA G
-
c.450+132_450+141del
-
-
- 3.0
B
22902 chr11 533330 G A
-
c.450+123C>T
-
-
- 3.0
B
23066 chr11 533367 A G
-
c.450+86T>C
-
-
- 3.0
B
19082 chr11 533535 C T
-
c.368G>A
-
p.Arg123His
- 3.0
B
2990 chr11 533782 C T
-
c.274G>A
-
p.Asp92Asn
3.0
B
31494 chr11 533839 G GCATGTACTGGTC
-
c.205_216dup
-
p.Asp69_Met72dup
- 3.5
B
34446 chr11 533874 T A
-
c.182A>T
-
p.Gln61Leu
4.0
B
4081 chr11 533874 T C
-
c.182A>G
-
p.Gln61Arg
4.0
B
416 chr11 533875 G T
-
c.181C>A
-
p.Gln61Lys
4.67
A
21158 chr11 533899 A G
-
c.157T>C
-
p.Leu53=
2.0
B
18318 chr11 533939 G A
-
c.117C>T
-
p.Ser39=
- 3.0
B
6836 chr11 533946 T C
-
c.112-2A>G
-
p.?
- 3.0
B
35604 chr11 534201 G C
-
c.111+11C>G
-
-
- 3.0
B
27898 chr11 534242 A G
-
c.81T>C
-
p.His27=
1.0
B
417 chr11 534285 C T
-
c.38G>A
-
p.Gly13Asp
5.0
B
2986 chr11 534286 C A
-
c.37G>T
-
p.Gly13Cys
4.0
B
418 chr11 534288 C A
-
c.35G>T
-
p.Gly12Val
4.67
A
23182 chr11 534289 C T
-
c.34G>A
-
p.Gly12Ser
4.5
B