Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26363 | chr16 | 64948718 | A | T |
c.1895-619T>A
|
-
|
- | 3.0 |
|
B | |
| 28220 | chr16 | 64948757 | G | A |
c.1895-658C>T
|
-
|
- | 3.0 |
|
B | |
| 24580 | chr16 | 64950754 | G | A |
c.1894+13C>T
|
-
|
3.0 |
|
B | ||
| 33345 | chr16 | 64950788 | C | T |
c.1873G>A
|
p.Ala625Thr
|
3.0 |
|
B | ||
| 34105 | chr16 | 64950806 | C | T |
c.1855G>A
|
p.Ala619Thr
|
3.0 |
|
B | ||
| 15150 | chr16 | 64950991 | C | T |
c.1670G>A
|
p.Arg557His
|
3.0 |
|
B | ||
| 34301 | chr16 | 64951004 | C | T |
c.1657G>A
|
p.Val553Met
|
3.0 |
|
B | ||
| 28575 | chr16 | 64971659 | G | A |
c.1562C>T
|
p.Thr521Met
|
3.0 |
|
B | ||
| 17380 | chr16 | 64971938 | G | A |
c.1517C>T
|
p.Ser506Phe
|
- | 3.0 |
|
B | |
| 21881 | chr16 | 64972904 | G | A |
c.1390C>T
|
p.His464Tyr
|
3.0 |
|
B | ||
| 17166 | chr16 | 64972984 | T | A |
c.1310A>T
|
p.Asp437Val
|
- | 3.0 |
|
B | |
| 12572 | chr16 | 64973048 | G | A |
c.1254-8C>T
|
-
|
- | 3.0 |
|
B | |
| 31333 | chr16 | 64982184 | A | C |
c.1117T>G
|
p.Ser373Ala
|
1.0 |
|
B | ||
| 29059 | chr16 | 64982231 | T | G |
c.1070A>C
|
p.Lys357Thr
|
- | 3.0 |
|
B | |
| 26243 | chr16 | 64988189 | C | T |
c.967G>A
|
p.Glu323Lys
|
3.0 |
|
B | ||
| 17591 | chr16 | 64988309 | G | A |
c.847C>T
|
p.Pro283Ser
|
3.0 |
|
B | ||
| 15893 | chr16 | 64991754 | G | A |
c.811+14C>T
|
-
|
- | 3.0 |
|
B | |
| 15882 | chr16 | 64991944 | G | A |
c.644-9C>T
|
-
|
3.0 |
|
B | ||
| 20536 | chr16 | 64998601 | C | T |
c.484G>A
|
p.Glu162Lys
|
3.0 |
|
B | ||
| 24622 | chr16 | 64998838 | A | T |
c.247T>A
|
p.Ser83Thr
|
- | 3.0 |
|
B |