Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10143 | chr1 | 9723201 | G | A |
c.2503G>A
|
p.Ala835Thr
|
3.0 |
|
B | ||
| 16661 | chr1 | 9723970 | G | A |
c.2596G>A
-
|
p.Glu866Lys
-
|
3.0 |
|
B | ||
| 32908 | chr1 | 9724279 | T | G |
c.2722T>G
-
|
p.Phe908Val
-
|
3.0 |
|
B | ||
| 2862 | chr1 | 9726972 | G | A |
c.3061G>A
-
|
p.Glu1021Lys
-
|
4.0 |
|
B | ||
| 3367 | chr1 | 9734008 | C | T |
-
c.2245G>A
|
-
p.Glu749Lys
|
3.0 |
|
B | ||
| 28057 | chr1 | 10232413 | C | CAGAT |
c.86_89dup
|
p.Met30IlefsTer11
|
- | 3.0 |
|
B | |
| 24289 | chr1 | 10258664 | A | T |
c.355A>T
|
p.Ile119Phe
|
- | 3.0 |
|
B | |
| 23192 | chr1 | 10267381 | T | G |
c.431T>G
|
p.Val144Gly
|
- | 3.0 |
|
B | |
| 16040 | chr1 | 10267470 | C | T |
c.520C>T
|
p.Leu174Phe
|
3.0 |
|
B | ||
| 21571 | chr1 | 10267536 | A | C |
c.586A>C
|
p.Met196Leu
|
- | 3.0 |
|
B | |
| 24963 | chr1 | 10267549 | A | T |
c.599A>T
|
p.Asn200Ile
|
- | 3.0 |
|
B | |
| 35295 | chr1 | 10267566 | A | C |
c.608+8A>C
|
-
|
- | 3.0 |
|
B | |
| 7288 | chr1 | 10268189 | C | T |
c.646C>T
|
p.Arg216Cys
|
3.0 |
|
B | ||
| 28300 | chr1 | 10271486 | T | A |
c.721-16T>A
|
-
|
- | 3.0 |
|
B | |
| 24114 | chr1 | 10271541 | C | T |
c.760C>T
|
p.Arg254Ter
|
3.0 |
|
B | ||
| 35296 | chr1 | 10271589 | T | C |
c.798+10T>C
|
-
|
- | 3.0 |
|
B | |
| 16662 | chr1 | 10273007 | C | T |
c.865-7C>T
|
-
|
3.0 |
|
B | ||
| 30562 | chr1 | 10276360 | C | T |
c.998C>T
|
p.Pro333Leu
|
- | 3.0 |
|
B | |
| 29173 | chr1 | 10278099 | G | A |
c.1151G>A
|
p.Arg384His
|
3.0 |
|
B | ||
| 25176 | chr1 | 10278127 | T | G |
c.1179T>G
|
p.Asp393Glu
|
- | 3.0 |
|
B |