Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
31468 chr3 49662175 C T
c.10330C>T
p.Arg3444Trp
BSN
3.0
B
19978 chr3 49684303 C A
-
c.2016+11G>T
-
-
- 3.0
B
30098 chr3 49684304 T TGGGCCA
-
c.2016+9_2016+10insTGGCCC
-
-
- 3.0
B
26174 chr3 49685273 G T
-
-
c.1533C>A
-
-
p.Ser511Arg
- 3.0
B
19411 chr3 49686158 C T
-
-
c.1051G>A
-
-
p.Gly351Ser
3.0
B
30355 chr3 49686448 G C
-
-
c.881C>G
-
-
p.Thr294Ser
3.0
B
32910 chr3 49686483 T G
-
-
c.848-2A>C
-
-
p.?
3.5
B
31456 chr3 49686701 C T
-
-
c.830G>A
-
-
p.Cys277Tyr
- 3.0
B
30221 chr3 49686958 G A
-
-
c.717C>T
-
-
p.Phe239=
3.0
B
16706 chr3 49687438 G A
-
-
c.396C>T
-
-
p.Tyr132=
3.0
B
29200 chr3 49687750 C T
-
-
c.242G>A
-
-
p.Arg81Gln
3.0
B
34819 chr3 49688595 T C
-
-
c.94+3A>G
-
-
-
1.0
B
34238 chr3 49688885 T C
-
-
c.-194A>G
-
-
-
3.0
B
21928 chr3 49887377 G A
c.4133C>T
p.Pro1378Leu
3.0
B
13910 chr3 49887509 A T
c.4001T>A
p.Phe1334Tyr
- 3.0
B
30145 chr3 49890006 G A
c.3865C>T
p.Arg1289Cys
3.0
B
33316 chr3 49890024 G A
c.3847C>T
p.Arg1283Trp
3.0
B
33161 chr3 49890552 C T
c.3743G>A
p.Arg1248His
3.0
B
28352 chr3 49891293 T C
c.3548A>G
p.Lys1183Arg
- 3.0
B
17568 chr3 49895705 G A
c.2962+10C>T
-
- 3.0
B