Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22834 | chr2 | 178609792 | C | T |
c.51631G>A
|
p.Gly17211Arg
|
- | 3.0 |
|
B | |
| 16057 | chr2 | 178609980 | G | C |
c.51443C>G
|
p.Pro17148Arg
|
- | 3.0 |
|
B | |
| 21803 | chr2 | 178610245 | T | C |
c.51281A>G
|
p.Tyr17094Cys
|
3.0 |
|
B | ||
| 13182 | chr2 | 178610279 | C | T |
c.51247G>A
|
p.Val17083Ile
|
- | 3.0 |
|
B | |
| 13418 | chr2 | 178610383 | G | A |
c.51143C>T
|
p.Pro17048Leu
|
3.0 |
|
B | ||
| 20892 | chr2 | 178610404 | G | A |
c.51137-15C>T
|
-
|
- | 3.0 |
|
B | |
| 32182 | chr2 | 178611092 | C | T |
c.51037G>A
|
p.Glu17013Lys
|
- | 3.0 |
|
B | |
| 19543 | chr2 | 178611100 | G | A |
c.51029C>T
|
p.Ala17010Val
|
3.0 |
|
B | ||
| 18932 | chr2 | 178611515 | C | T |
c.50714G>A
|
p.Arg16905His
|
2.5 |
|
B | ||
| 28801 | chr2 | 178611516 | G | A |
c.50713C>T
|
p.Arg16905Cys
|
3.0 |
|
B | ||
| 29132 | chr2 | 178611955 | C | G |
c.50355-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 33901 | chr2 | 178612292 | C | A |
c.50233G>T
|
p.Ala16745Ser
|
- | 3.0 |
|
B | |
| 13960 | chr2 | 178612322 | C | T |
c.50203G>A
|
p.Asp16735Asn
|
3.0 |
|
B | ||
| 13056 | chr2 | 178612441 | C | T |
c.50084G>A
|
p.Arg16695Gln
|
3.0 |
|
B | ||
| 18282 | chr2 | 178612460 | C | T |
c.50065G>A
|
p.Glu16689Lys
|
- | 3.0 |
|
B | |
| 34880 | chr2 | 178612540 | T | A |
c.49985A>T
|
p.Asn16662Ile
|
- | 3.0 |
|
B | |
| 17734 | chr2 | 178612795 | A | AGGGTCACTGGGTTCACTGGGTTCAC |
c.49901_49925dup
|
p.Val16643Ter
|
- | 3.0 |
|
B | |
| 12964 | chr2 | 178612969 | C | G |
c.49752G>C
|
p.Glu16584Asp
|
- | 3.0 |
|
B | |
| 30976 | chr2 | 178613239 | G | T |
c.49570C>A
|
p.Arg16524Ser
|
3.0 |
|
B | ||
| 27800 | chr2 | 178614179 | C | T |
c.49218G>A
|
p.Lys16406=
|
- | 3.0 |
|
B |