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 |