Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20622 | chr16 | 23640260 | G | C |
c.48+850C>G
-
|
-
-
|
- | 3.0 |
|
B | |
| 9317 | chr16 | 23641118 | TCTC | T |
c.37_39del
-
|
p.Glu13del
-
|
3.0 |
|
B | ||
| 32332 | chr16 | 23678919 | G | T |
c.-14G>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 28838 | chr16 | 23678929 | G | A |
c.-4G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 30857 | chr16 | 23679096 | G | T |
c.164G>T
-
|
p.Arg55Leu
-
|
- | 3.0 |
|
B | |
| 21701 | chr16 | 23679293 | G | T |
c.361G>T
-
|
p.Glu121Ter
-
|
- | 3.0 |
|
B | |
| 15038 | chr16 | 23680168 | C | T |
c.493C>T
-
|
p.Gln165Ter
-
|
- | 3.0 |
|
B | |
| 33531 | chr16 | 23680256 | A | C |
c.577+4A>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 12202 | chr16 | 23680267 | C | T |
c.577+15C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 27750 | chr16 | 23682157 | G | A |
c.816G>A
-
|
p.Lys272=
-
|
- | 3.0 |
|
B | |
| 23085 | chr16 | 23683882 | G | A |
c.829G>A
|
p.Val277Met
|
3.0 |
|
B | ||
| 17379 | chr16 | 23683912 | C | T |
c.859C>T
|
p.Gln287Ter
|
- | 3.0 |
|
B | |
| 32193 | chr16 | 23683951 | C | T |
c.898C>T
|
p.Leu300Phe
|
- | 3.0 |
|
B | |
| 25643 | chr16 | 23684080 | C | T |
c.1027C>T
|
p.Leu343Phe
|
- | 3.0 |
|
B | |
| 14820 | chr16 | 23687464 | C | A |
-
c.1037-5C>A
|
-
-
|
- | 3.0 |
|
B | |
| 12970 | chr16 | 23689224 | C | T |
-
c.1271-14C>T
|
-
-
|
- | 3.0 |
|
B | |
| 21330 | chr16 | 23689297 | C | T |
-
c.1330C>T
|
-
p.Leu444Phe
|
3.0 |
|
B | ||
| 18742 | chr16 | 23689299 | CTACAATGATGGTGACAGCCTGCAG | C |
-
c.1337_1360del
|
-
p.Asn446_Tyr453del
|
- | 3.0 |
|
B | |
| 17086 | chr16 | 23689568 | CG | C |
-
c.1501del
|
-
p.Glu501LysfsTer46
|
- | 3.0 |
|
B | |
| 22456 | chr16 | 23689963 | G | A |
-
c.1712G>A
|
-
p.Gly571Asp
|
- | 3.0 |
|
B |