Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13153 | chr16 | 89919819 | C | T |
-
c.561C>T
|
-
p.Ala187=
|
2.0 |
|
B | ||
| 2157 | chr16 | 89919859 | G | T |
-
c.601G>T
|
-
p.Val201Leu
|
- | 3.0 |
|
B | |
| 31672 | chr16 | 89919989 | C | T |
-
c.731C>T
|
-
p.Thr244Ile
|
3.0 |
|
B | ||
| 15685 | chr16 | 89920608 | C | T |
-
c.*396C>T
|
-
-
|
3.0 |
|
B | ||
| 24317 | chr16 | 89920716 | G | A |
-
c.*504G>A
|
-
-
|
- | 3.0 |
|
B | |
| 35175 | chr16 | 89932625 | G | T |
c.112G>T
|
p.Gly38Cys
|
- | 3.0 |
|
B | |
| 13981 | chr16 | 89932688 | C | G |
c.166+9C>G
|
-
|
- | 3.0 |
|
B | |
| 20140 | chr16 | 89934795 | C | T |
c.344C>T
|
p.Ser115Leu
|
- | 3.0 |
|
B | |
| 35608 | chr16 | 89934881 | G | T |
c.430G>T
|
p.Gly144Cys
|
- | 3.0 |
|
B | |
| 27534 | chr16 | 89935235 | C | A |
c.784C>A
|
p.Arg262Ser
|
- | 3.0 |
|
B | |
| 2512 | chr16 | 89935236 | G | A |
c.785G>A
|
p.Arg262His
|
3.0 |
|
B | ||
| 20141 | chr16 | 89935262 | GC | G |
c.817del
|
p.Leu273SerfsTer12
|
- | 3.0 |
|
B | |
| 31300 | chr16 | 89935459 | G | C |
c.1008G>C
|
p.Lys336Asn
|
- | 3.0 |
|
B | |
| 14355 | chr16 | 89935506 | C | T |
c.1055C>T
|
p.Ala352Val
|
- | 3.0 |
|
B | |
| 30768 | chr16 | 89935622 | C | T |
c.1171C>T
|
p.Arg391Cys
|
3.0 |
|
B | ||
| 29224 | chr16 | 89935652 | G | A |
c.1201G>A
|
p.Glu401Lys
|
3.0 |
|
B | ||
| 9405 | chr16 | 89935716 | A | G |
c.1265A>G
|
p.Tyr422Cys
|
- | 3.0 |
|
B | |
| 6339 | chr16 | 89935766 | G | A |
c.1315G>A
|
p.Asp439Asn
|
- | 3.0 |
|
B | |
| 22505 | chr16 | 89935772 | G | T |
c.1321G>T
|
p.Glu441Ter
|
- | 3.0 |
|
B | |
| 15269 | chr16 | 90032930 | T | G |
c.495+6T>G
|
-
|
3.0 |
|
B |