Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
18879 chr16 2081716 C G
c.3732C>G
p.His1244Gln
- 3.0
B
32630 chr16 2081772 C T
c.3788C>T
p.Pro1263Leu
2.5
B
19217 chr16 2082416 C T
c.3815-20C>T
-
2.0
B
19102 chr16 2083797 G A
-
c.3986G>A
-
p.Arg1329His
1.0
B
24222 chr16 2084268 C T
-
c.4046C>T
-
p.Ala1349Val
2.0
B
27962 chr16 2084316 CG C
-
c.4096del
-
p.Glu1366ArgfsTer17
- 4.0
B
20761 chr16 2084387 C T
-
c.4165C>T
-
p.Pro1389Ser
2.0
B
2436 chr16 2084641 GAGAGT G
-
c.4424_4428del
-
p.Val1475GlufsTer47
4.0
B
6790 chr16 2085337 C A
-
c.4662+15C>A
-
-
- 3.0
B
32880 chr16 2086363 C G
-
c.4833C>G
-
p.His1611Gln
- 3.0
B
29933 chr16 2086399 C T
-
c.4849+20C>T
-
-
2.0
B
24164 chr16 2086763 C CAAGG
-
c.4883_4886dup
-
p.Asp1629GlufsTer25
- 4.0
B
34182 chr16 2086806 G C
-
c.4924G>C
-
p.Gly1642Arg
- 3.0
B
19103 chr16 2086872 G A
-
c.4989+1G>A
-
p.?
4.0
B
11159 chr16 2086886 G A
-
c.4989+15G>A
-
-
2.0
B
31093 chr16 2087906 A T
-
c.5033A>T
-
p.Tyr1678Phe
- 3.0
B
10052 chr16 2088105 C T
-
c.5126C>T
-
p.Pro1709Leu
3.5
B
3857 chr16 2088121 G C
-
c.5142G>C
-
p.Gln1714His
- 3.0
B
22026 chr16 2088161 C A
-
c.5160+22C>A
-
-
3.0
B
8144 chr16 2088222 C A
-
c.5161-5C>A
-
-
3.0
B