Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7327 | chr1 | 162754841 | C | T |
c.403C>T
|
p.Arg135Cys
|
3.0 |
|
B | ||
| 7051 | chr1 | 162754847 | G | T |
c.409G>T
|
p.Gly137Trp
|
- | 3.0 |
|
B | |
| 31517 | chr1 | 162759872 | G | A |
c.748G>A
|
p.Val250Met
|
3.0 |
|
B | ||
| 14122 | chr1 | 162759994 | G | A |
c.855+15G>A
|
-
|
3.0 |
|
B | ||
| 12535 | chr1 | 162761203 | T | A |
c.856-8T>A
|
-
|
- | 3.0 |
|
B | |
| 23849 | chr1 | 162761262 | C | T |
c.907C>T
|
p.Gln303Ter
|
- | 3.0 |
|
B | |
| 1548 | chr1 | 162761274 | C | T |
c.919C>T
|
p.Arg307Cys
|
3.0 |
|
B | ||
| 34996 | chr1 | 162761289 | G | T |
c.934G>T
|
p.Glu312Ter
|
- | 3.0 |
|
B | |
| 33434 | chr1 | 162766076 | C | A |
c.1162+13C>A
|
-
|
- | 3.0 |
|
B | |
| 17250 | chr1 | 162767218 | C | A |
c.1163-11C>A
|
-
|
- | 3.0 |
|
B | |
| 17252 | chr1 | 162767219 | C | A |
c.1163-10C>A
|
-
|
- | 3.0 |
|
B | |
| 18030 | chr1 | 162767315 | GTCA | G |
c.1255_1257del
|
p.Ile419del
|
- | 3.0 |
|
B | |
| 27498 | chr1 | 162770308 | C | T |
c.1300C>T
|
p.Arg434Trp
|
3.0 |
|
B | ||
| 22219 | chr1 | 162770426 | G | A |
c.1418G>A
|
p.Arg473His
|
3.0 |
|
B | ||
| 7380 | chr1 | 162770473 | C | T |
c.1465C>T
|
p.Arg489Ter
|
3.0 |
|
B | ||
| 26690 | chr1 | 162770523 | T | C |
c.1504+11T>C
|
-
|
1.5 |
|
B | ||
| 13536 | chr1 | 162772117 | C | A |
c.1598C>A
|
p.Thr533Lys
|
- | 3.0 |
|
B | |
| 1621 | chr1 | 162772197 | A | G |
c.1678A>G
|
p.Arg560Gly
|
- | 3.0 |
|
B | |
| 24409 | chr1 | 162772214 | C | G |
c.1695C>G
|
p.Phe565Leu
|
- | 3.0 |
|
B | |
| 8393 | chr1 | 162772234 | G | A |
c.1715G>A
|
p.Gly572Glu
|
- | 3.0 |
|
B |