Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
10560 chr19 855588 G A
c.391G>A
-
p.Ala131Thr
-
CFD
3.0
B
11514 chr19 855741 C T
c.544C>T
-
p.Arg182Cys
-
CFD
3.0
B
2245 chr19 855744 C T
c.547C>T
-
p.Arg183Cys
-
CFD
3.0
B
20420 chr19 855967 G A
c.607G>A
-
p.Gly203Ser
-
CFD
3.0
B
29858 chr19 856010 C T
c.650C>T
-
p.Ser217Phe
-
CFD
- 3.0
B
17923 chr19 856030 G A
c.670G>A
-
p.Ala224Thr
-
CFD
3.0
B
24130 chr19 1206797 CT C
c.-107del
-
3.0
B
31702 chr19 1206990 T TC
c.79dup
p.His27ProfsTer136
- 4.0
B
35182 chr19 1207065 TG T
c.157del
p.Asp53ThrfsTer11
3.5
B
35186 chr19 1207072 CCTGCTGGGGGAAGGCTCTTA C
c.161_180del
p.Leu54ArgfsTer102
- 4.0
B
13531 chr19 1207106 G T
c.193G>T
p.Glu65Ter
- 4.0
B
10294 chr19 1207118 T A
c.205T>A
p.Ser69Thr
- 3.0
B
25596 chr19 1207149 TC T
c.238del
p.Leu80SerfsTer16
- 4.0
B
15846 chr19 1207153 CAAG C
c.250_252del
p.Lys84del
3.5
B
5959 chr19 1207163 A T
c.250A>T
p.Lys84Ter
4.5
B
6187 chr19 1207169 C T
c.256C>T
p.Arg86Ter
4.5
B
19177 chr19 1207223 G A
c.290+20G>A
-
- 2.0
B
5795 chr19 1218416 G A
c.291-1G>A
p.?
4.5
B
6918 chr19 1218431 TGAG T
c.310_312del
p.Arg104del
- 3.0
B
28731 chr19 1218452 ATG A
c.328_329del
p.Val110HisfsTer52
- 4.0
B