Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23553 | chr1 | 237364379 | C | T |
c.309+7C>T
|
-
|
2.0 |
|
B | ||
| 15506 | chr1 | 237369521 | C | G |
c.310-13C>G
|
-
|
- | 3.0 |
|
B | |
| 26591 | chr1 | 237369530 | A | G |
c.310-4A>G
|
-
|
- | 3.0 |
|
B | |
| 14584 | chr1 | 237369556 | G | A |
c.332G>A
|
p.Arg111Gln
|
- | 3.0 |
|
B | |
| 15270 | chr1 | 237369589 | G | A |
c.365G>A
|
p.Arg122His
|
3.0 |
|
B | ||
| 23422 | chr1 | 237369600 | A | T |
c.376A>T
|
p.Ser126Cys
|
- | 3.0 |
|
B | |
| 17488 | chr1 | 237377368 | C | T |
c.509C>T
|
p.Ser170Leu
|
- | 3.0 |
|
B | |
| 9884 | chr1 | 237377370 | G | T |
c.511G>T
|
p.Glu171Ter
|
- | 3.0 |
|
B | |
| 34939 | chr1 | 237377415 | G | A |
c.556G>A
|
p.Val186Met
|
3.0 |
|
B | ||
| 14123 | chr1 | 237377440 | G | T |
c.576+5G>T
|
-
|
- | 3.0 |
|
B | |
| 13233 | chr1 | 237417124 | G | A |
c.848+1G>A
|
p.?
|
3.0 |
|
B | ||
| 33302 | chr1 | 237417127 | A | C |
c.848+4A>C
|
-
|
- | 3.0 |
|
B | |
| 11294 | chr1 | 237423098 | TG | T |
c.857del
|
p.Gly286GlufsTer4
|
- | 3.0 |
|
B | |
| 32249 | chr1 | 237423112 | G | T |
c.869G>T
|
p.Arg290Ile
|
3.0 |
|
B | ||
| 17156 | chr1 | 237423135 | C | T |
c.892C>T
|
p.Arg298Cys
|
2.5 |
|
B | ||
| 28426 | chr1 | 237423170 | G | A |
c.927G>A
|
p.Met309Ile
|
- | 3.0 |
|
B | |
| 34540 | chr1 | 237423252 | A | T |
c.1005+4A>T
|
-
|
- | 3.0 |
|
B | |
| 22075 | chr1 | 237423256 | A | C |
c.1005+8A>C
|
-
|
- | 3.0 |
|
B | |
| 25707 | chr1 | 237441315 | T | G |
c.1006-4T>G
|
-
|
- | 3.0 |
|
B | |
| 13718 | chr1 | 237445470 | C | T |
c.1240C>T
|
p.Arg414Cys
|
3.0 |
|
B |