Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
25950 chr11 64359413 G A
-
c.91G>A
-
p.Glu31Lys
- 3.0
B
18883 chr11 64359416 A G
-
c.94A>G
-
p.Asn32Asp
- 3.0
B
10170 chr11 64360234 CTGCGCA C
-
c.200_205del
-
p.Leu67_Lys69delinsGln
- 3.0
B
35419 chr11 64360247 C T
-
c.212C>T
-
p.Ala71Val
3.0
B
9344 chr11 64360309 G T
-
c.274G>T
-
p.Val92Leu
- 3.0
B
30905 chr11 64360353 GA G
-
c.319del
-
p.Thr107ArgfsTer12
- 3.0
B
25064 chr11 64361127 C T
-
c.463-7C>T
-
-
3.0
B
6021 chr11 64361224 G A
-
c.553G>A
-
p.Glu185Lys
- 3.0
B
7912 chr11 64361224 GAGTTCC G
-
c.554_559del
-
p.Glu185_Leu187delinsVal
- 3.0
B
35538 chr11 64361656 G T
-
c.666G>T
-
p.Trp222Cys
- 3.0
B
19209 chr11 64361697 C T
-
c.707C>T
-
p.Ser236Leu
3.0
B
16555 chr11 64361711 G A
-
c.721G>A
-
p.Glu241Lys
- 3.0
B
6358 chr11 64361891 CG C
-
c.798del
-
p.Val268TrpfsTer107
- 3.0
B
13456 chr11 64361996 C G
-
c.900C>G
-
p.Phe300Leu
- 3.0
B
17911 chr11 64368144 G A
c.1084G>A
p.Val362Met
- 3.0
B
7846 chr11 64368237 G T
c.1177G>T
p.Val393Leu
- 3.0
B
32625 chr11 64368791 C A
c.1422C>A
p.His474Gln
3.0
B
35095 chr11 64369477 G T
c.1460G>T
p.Arg487Leu
- 3.0
B
4252 chr11 64369548 C T
c.1531C>T
p.Arg511Cys
3.0
B
11831 chr11 64370205 C T
c.1798-20C>T
-
- 3.0
B