Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8012 | chr2 | 98555696 | C | A |
c.1710C>A
|
p.Asn570Lys
|
- | 3.0 |
|
B | |
| 11441 | chr2 | 98555702 | C | A |
c.1716C>A
|
p.Asp572Glu
|
3.0 |
|
B | ||
| 32738 | chr2 | 98559507 | C | T |
c.1855+12C>T
|
-
|
- | 3.0 |
|
B | |
| 29685 | chr2 | 98563456 | G | C |
c.1856-9G>C
|
-
|
- | 3.0 |
|
B | |
| 32881 | chr2 | 98563507 | C | T |
c.1898C>T
|
p.Thr633Ile
|
3.0 |
|
B | ||
| 12086 | chr2 | 98564646 | G | A |
c.2035G>A
|
p.Ala679Thr
|
3.0 |
|
B | ||
| 18750 | chr2 | 98564706 | C | T |
c.2095C>T
|
p.Arg699Cys
|
3.0 |
|
B | ||
| 26248 | chr2 | 98568633 | A | C |
c.2483A>C
|
p.Tyr828Ser
|
- | 3.0 |
|
B | |
| 9705 | chr2 | 98572886 | C | T |
c.2590C>T
|
p.Arg864Trp
|
3.0 |
|
B | ||
| 8019 | chr2 | 98572893 | A | G |
c.2597A>G
|
p.Asn866Ser
|
- | 3.0 |
|
B | |
| 17640 | chr2 | 98577091 | G | A |
c.2734G>A
|
p.Glu912Lys
|
3.0 |
|
B | ||
| 34273 | chr2 | 98587466 | T | C |
c.2787-10T>C
|
-
|
- | 3.0 |
|
B | |
| 9981 | chr2 | 98587480 | G | A |
c.2791G>A
|
p.Gly931Ser
|
- | 3.0 |
|
B | |
| 27206 | chr2 | 98587511 | T | C |
c.2822T>C
|
p.Val941Ala
|
- | 3.0 |
|
B | |
| 2697 | chr2 | 98639974 | G | A |
c.1156C>T
|
p.Leu386Phe
|
- | 3.0 |
|
B | |
| 23431 | chr2 | 99551488 | C | A |
c.3667G>T
|
p.Ala1223Ser
|
3.0 |
|
B | ||
| 33687 | chr2 | 99551587 | T | C |
c.3568A>G
|
p.Asn1190Asp
|
3.0 |
|
B | ||
| 20279 | chr2 | 99554491 | C | T |
c.3379G>A
|
p.Ala1127Thr
|
3.0 |
|
B | ||
| 24526 | chr2 | 99554534 | C | T |
c.3336G>A
|
p.Lys1112=
|
- | 3.0 |
|
B | |
| 27609 | chr2 | 99554663 | C | G |
c.3335+20G>C
|
-
|
- | 3.0 |
|
B |