Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
6281 chr5 177295175 C G
c.7807C>G
p.Leu2603Val
3.0
B
33476 chr5 177302109 G A
-
-
c.484+19C>T
-
-
-
- 3.0
B
15087 chr5 177511880 C G
c.1780G>C
-
p.Asp594His
-
3.0
B
22649 chr5 177512535 C T
c.1510G>A
-
p.Val504Ile
-
3.0
B
20489 chr5 177512594 T C
c.1451A>G
-
p.Asp484Gly
-
- 3.0
B
23046 chr5 177512609 C T
c.1436G>A
-
p.Arg479Gln
-
3.0
B
17028 chr5 177512763 G T
c.1399+17C>A
-
-
-
- 3.0
B
30119 chr5 177513399 G A
c.1184C>T
-
p.Thr395Ile
-
- 3.0
B
24518 chr5 177513665 T G
c.1098+20A>C
-
-
-
- 3.0
B
34472 chr5 177514698 C G
c.935+3G>C
-
-
-
- 3.0
B
13185 chr5 177514750 G A
c.886C>T
-
p.Leu296Phe
-
3.0
B
28136 chr5 177515086 A G
-
c.645-17T>C
-
-
- 3.0
B
32108 chr5 177515232 C T
-
c.598G>A
-
p.Gly200Ser
3.0
B
30828 chr5 177515691 G A
-
c.565C>T
-
p.Pro189Ser
3.0
B
15244 chr5 177516100 A G
-
c.373+19T>C
-
-
2.5
B
18575 chr5 177516155 C T
-
c.337G>A
-
p.Glu113Lys
- 3.0
B
17288 chr5 177516195 T G
-
c.299-2A>C
-
p.?
- 3.5
B
17075 chr5 177516811 C T
-
c.52G>A
-
p.Ala18Thr
2.5
B
22648 chr5 177516919 C T
-
c.27G>A
-
p.Lys9=
3.5
B
24804 chr5 178149856 G A
c.*1824G>A
c.337-18C>T
-
-
2.5
B