Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
226 chr2 47803500 AC A
c.3261del
-
p.Phe1088SerfsTer2
-
4.67
A
19908 chr2 47803500 ACC A
c.3260_3261del
-
p.Pro1087LeufsTer5
-
- 4.0
B
227 chr2 47803552 CT C
c.3312del
-
p.Phe1104LeufsTer11
-
5.0
B
8767 chr2 47803584 A AT
c.3339dup
-
p.Leu1114SerfsTer5
-
- 4.0
B
10401 chr2 47803659 G A
c.3412G>A
-
p.Gly1138Arg
-
3.0
B
2126 chr2 47803662 G A
c.3415G>A
-
p.Gly1139Ser
-
3.5
B
14263 chr2 47803672 C T
c.3425C>T
-
p.Thr1142Met
-
2.5
B
18422 chr2 47804982 G T
c.3511G>T
-
p.Asp1171Tyr
-
- 3.0
B
33600 chr2 47805012 GACAGAAT G
c.3543_3549del
-
p.Asp1181GlufsTer12
-
- 4.0
B
19534 chr2 47805601 AT A
c.3557-4del
-
-
-
1.0
B
20202 chr2 47805601 ATT A
c.3557-5_3557-4del
-
-
-
2.0
B
24118 chr2 47805601 ATTT A
c.3557-6_3557-4del
-
-
-
2.5
B
121 chr2 47806204 G A
c.3647G>A
-
p.Gly1216Glu
-
- 4.33
A
8581 chr2 47806209 G A
c.3652G>A
-
p.Gly1218Ser
-
3.0
B
9014 chr2 47806210 G A
c.3653G>A
-
p.Gly1218Asp
-
- 3.0
B
16691 chr2 47806213 C T
c.3656C>T
-
p.Thr1219Ile
-
3.5
B
8580 chr2 47806297 C T
c.3740C>T
-
p.Thr1247Ile
-
3.0
B
5649 chr2 47806299 C G
c.3742C>G
-
p.His1248Asp
-
3.0
B
122 chr2 47806359 G A
c.3801+1G>A
-
p.?
-
- 4.67
A
11952 chr2 47806505 C G
c.3855C>G
-
p.Phe1285Leu
-
3.0
B