Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12252 | chr2 | 21023613 | G | A |
c.2516C>T
|
p.Pro839Leu
|
3.0 |
|
B | ||
| 20197 | chr2 | 21024878 | TA | T |
c.2436+54del
|
-
|
3.0 |
|
B | ||
| 28626 | chr2 | 21024924 | C | T |
c.2436+9G>A
|
-
|
- | 3.0 |
|
B | |
| 32299 | chr2 | 21025004 | G | C |
c.2365C>G
|
p.Leu789Val
|
- | 3.0 |
|
B | |
| 11322 | chr2 | 21025019 | G | T |
c.2350C>A
|
p.Leu784Ile
|
3.0 |
|
B | ||
| 23429 | chr2 | 21025022 | C | T |
c.2347G>A
|
p.Glu783Lys
|
3.0 |
|
B | ||
| 29490 | chr2 | 21025028 | C | T |
c.2341G>A
|
p.Gly781Arg
|
- | 3.0 |
|
B | |
| 31598 | chr2 | 21025078 | T | C |
c.2291A>G
|
p.Asp764Gly
|
- | 3.0 |
|
B | |
| 24495 | chr2 | 21026805 | C | G |
c.2227G>C
|
p.Asp743His
|
- | 3.0 |
|
B | |
| 12151 | chr2 | 21026861 | C | T |
c.2171G>A
|
p.Gly724Asp
|
2.5 |
|
B | ||
| 25708 | chr2 | 21027824 | T | G |
c.2067+4A>C
|
-
|
- | 3.0 |
|
B | |
| 31393 | chr2 | 21028486 | T | C |
c.1670A>G
|
p.Lys557Arg
|
- | 3.0 |
|
B | |
| 26422 | chr2 | 21028511 | G | T |
c.1645C>A
|
p.Leu549Ile
|
- | 3.0 |
|
B | |
| 32104 | chr2 | 21028529 | C | A |
c.1627G>T
|
p.Val543Phe
|
- | 3.0 |
|
B | |
| 15573 | chr2 | 21029625 | C | G |
c.1617+14G>C
|
-
|
2.5 |
|
B | ||
| 21052 | chr2 | 21032448 | C | T |
c.1258G>A
|
p.Glu420Lys
|
2.5 |
|
B | ||
| 27690 | chr2 | 21032518 | C | G |
c.1188G>C
|
p.Gln396His
|
- | 3.0 |
|
B | |
| 18766 | chr2 | 21033392 | C | T |
c.1031G>A
|
p.Arg344Lys
|
3.0 |
|
B | ||
| 15162 | chr2 | 21033394 | C | G |
c.1029G>C
|
p.Gln343His
|
- | 3.0 |
|
B | |
| 28599 | chr2 | 21033488 | C | T |
c.935G>A
|
p.Ser312Asn
|
- | 3.0 |
|
B |