Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19163 | chr1 | 10279124 | G | A |
c.1208G>A
|
p.Gly403Glu
|
- | 3.0 |
|
B | |
| 13698 | chr1 | 10291130 | C | A |
c.1483C>A
|
p.Leu495Ile
|
- | 3.0 |
|
B | |
| 19906 | chr1 | 10292034 | GT | G |
c.1515-6del
|
-
|
2.5 |
|
B | ||
| 14902 | chr1 | 10292075 | G | A |
c.1543G>A
|
p.Ala515Thr
|
- | 3.0 |
|
B | |
| 7280 | chr1 | 10295078 | T | G |
c.1591-8T>G
|
-
|
- | 3.0 |
|
B | |
| 20990 | chr1 | 10295745 | G | A |
c.1756G>A
|
p.Glu586Lys
|
3.0 |
|
B | ||
| 19033 | chr1 | 10296587 | G | A |
c.1783G>A
|
p.Val595Met
|
3.0 |
|
B | ||
| 20717 | chr1 | 10296986 | G | A |
c.1951G>A
|
p.Glu651Lys
|
- | 3.0 |
|
B | |
| 29839 | chr1 | 10303254 | C | T |
c.2115+6008C>T
|
-
|
- | 3.0 |
|
B | |
| 23012 | chr1 | 10303310 | C | T |
c.2115+6064C>T
|
-
|
3.0 |
|
B | ||
| 30349 | chr1 | 10303499 | G | A |
c.2115+6253G>A
|
-
|
- | 3.0 |
|
B | |
| 17695 | chr1 | 10303551 | C | T |
c.2115+6305C>T
|
-
|
- | 3.0 |
|
B | |
| 19034 | chr1 | 10303785 | A | G |
c.2115+6539A>G
|
-
|
- | 3.0 |
|
B | |
| 21496 | chr1 | 10304061 | G | A |
c.2115+6815G>A
|
-
|
3.0 |
|
B | ||
| 15504 | chr1 | 10304091 | G | A |
c.2115+6845G>A
|
-
|
- | 3.0 |
|
B | |
| 7322 | chr1 | 10304144 | G | A |
c.2115+6898G>A
|
-
|
- | 3.0 |
|
B | |
| 35297 | chr1 | 10304214 | A | C |
c.2115+6968A>C
|
-
|
- | 3.0 |
|
B | |
| 14903 | chr1 | 10304355 | G | A |
c.2115+7109G>A
|
-
|
- | 3.0 |
|
B | |
| 15333 | chr1 | 10304474 | C | T |
c.2115+7228C>T
|
-
|
3.0 |
|
B | ||
| 32448 | chr1 | 10320031 | C | T |
c.2116-12C>T
|
-
|
- | 3.0 |
|
B |