Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
28502 chr3 36993414 C T
-
-
-
-
- 3.0
B
20993 chr3 36993609 C T
c.62C>T
-
p.Ala21Val
-
4.0
B
15797 chr3 36993664 G A
c.116+1G>A
-
p.?
-
4.5
B
19406 chr3 36993677 C T
c.116+14C>T
-
-
-
- 2.5
B
2262 chr3 36996627 CA C
c.129del
-
p.Lys43AsnfsTer7
-
4.0
B
15561 chr3 36996657 A G
c.155A>G
-
p.Lys52Arg
-
- 3.0
B
4270 chr3 36996683 A G
c.181A>G
-
p.Ile61Val
-
3.0
B
31994 chr3 37000952 CAG C
c.208-1_208del
p.?
4.0
B
2342 chr3 37001015 G A
c.268G>A
p.Asp90Asn
3.0
B
6443 chr3 37001024 A G
c.277A>G
p.Ser93Gly
2.0
B
4995 chr3 37001037 ATG A
c.291_292del
p.Tyr97Ter
- 4.0
B
25941 chr3 37004432 T C
c.338T>C
p.Val113Ala
- 3.0
B
19909 chr3 37008823 C CT
c.469dup
p.Tyr157LeufsTer15
4.0
B
16172 chr3 37011862 AG A
c.588+1del
p.?
4.0
B
7591 chr3 37012048 A G
c.626A>G
p.Asn209Ser
2.5
B
9820 chr3 37012072 G A
c.650G>A
p.Arg217His
2.5
B
6042 chr3 37012075 C T
c.653C>T
p.Ser218Phe
3.0
B
155 chr3 37017508 C T
c.793C>T
p.Arg265Cys
5.0
B
912 chr3 37017595 C G
c.880C>G
p.Leu294Val
- 3.0
B
17242 chr3 37017618 C T
c.884+19C>T
-
2.0
B