Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28189 | chr7 | 2917277 | C | T |
c.2703+13G>A
|
-
|
2.5 |
|
B | ||
| 6398 | chr7 | 2918502 | G | A |
c.2596C>T
|
p.Arg866Trp
|
2.5 |
|
B | ||
| 16100 | chr7 | 2918556 | G | A |
c.2542C>T
|
p.Arg848Cys
|
2.5 |
|
B | ||
| 25128 | chr7 | 2918597 | G | A |
c.2511-10C>T
|
-
|
2.5 |
|
B | ||
| 11618 | chr7 | 2922631 | C | G |
c.2269+3G>C
|
-
|
- | 3.0 |
|
B | |
| 25814 | chr7 | 2923120 | C | A |
c.2142+12G>T
|
-
|
- | 3.0 |
|
B | |
| 19479 | chr7 | 2923219 | GC | G |
c.2054del
|
p.Gly685AlafsTer31
|
- | 3.0 |
|
B | |
| 10928 | chr7 | 2923319 | G | A |
c.1955C>T
|
p.Ser652Leu
|
- | 3.0 |
|
B | |
| 33491 | chr7 | 2924232 | C | A |
c.1940+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 25288 | chr7 | 2926738 | C | T |
c.1807+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 22739 | chr7 | 2926772 | C | T |
c.1774G>A
|
p.Asp592Asn
|
- | 3.0 |
|
B | |
| 21309 | chr7 | 2926807 | G | A |
c.1755-16C>T
|
-
|
- | 3.0 |
|
B | |
| 27794 | chr7 | 2926808 | A | AG |
c.1755-18dup
|
-
|
2.0 |
|
B | ||
| 11178 | chr7 | 2928659 | C | T |
c.1693G>A
|
p.Ala565Thr
|
- | 3.0 |
|
B | |
| 34769 | chr7 | 2929975 | C | T |
c.1653+17G>A
|
-
|
- | 3.0 |
|
B | |
| 35598 | chr7 | 2930015 | T | C |
c.1630A>G
|
p.Ile544Val
|
- | 3.0 |
|
B | |
| 17296 | chr7 | 2932600 | G | A |
c.1519-14C>T
|
-
|
- | 3.0 |
|
B | |
| 25815 | chr7 | 2934437 | C | G |
c.1518+16G>C
|
-
|
- | 3.0 |
|
B | |
| 13691 | chr7 | 2934532 | G | T |
c.1439C>A
|
p.Ser480Ter
|
- | 3.0 |
|
B | |
| 9249 | chr7 | 2934583 | C | A |
c.1388G>T
|
p.Gly463Val
|
- | 3.0 |
|
B |