Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
33550 chr16 2088292 CCGGCTCCGCCACATCAAG C
-
c.5238_5255del
-
p.His1746_Arg1751del
3.0
B
9265 chr16 2088330 G A
-
c.5259+5G>A
-
-
- 3.0
B
27526 chr16 2088563 C T
-
c.5377C>T
-
p.Arg1793Trp
2.5
B
25196 chr16 2088582 C T
-
c.5396C>T
-
p.Ser1799Leu
2.0
B
30875 chr16 2165864 C T
c.82-15C>T
-
3.0
B
2651 chr16 2170641 G A
c.259G>A
p.Asp87Asn
3.0
B
27386 chr16 2171339 G A
c.424G>A
p.Val142Met
3.0
B
18607 chr16 2171365 G A
c.441+9G>A
-
3.0
B
33940 chr16 2171592 CG C
c.463del
p.Ala155ProfsTer2
- 4.0
B
7400 chr16 2172202 G A
-
c.487G>A
-
p.Val163Met
3.0
B
19755 chr16 2172293 G A
-
c.578G>A
-
p.Arg193Gln
3.0
B
1114 chr16 2172299 C T
-
c.584C>T
-
p.Ala195Val
3.0
B
12651 chr16 2172612 C G
-
c.794+13C>G
-
-
3.5
B
19273 chr16 2172616 C G
-
c.794+17C>G
-
-
3.0
B
32553 chr16 2173323 C G
-
c.936C>G
-
p.Ile312Met
- 3.0
B
6478 chr16 2173520 T C
-
c.1052T>C
-
p.Leu351Pro
- 3.0
B
35221 chr16 2173791 G A
-
c.1090G>A
-
p.Glu364Lys
- 3.0
B
1217 chr16 2173825 G C
-
c.1124G>C
-
p.Gly375Ala
- 3.0
B
13263 chr16 2173841 G C
-
c.1135+5G>C
-
-
- 3.5
B
798 chr16 2173935 C G
-
c.1150C>G
-
p.Gln384Glu
- 3.0
B