Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20999 | chr7 | 116795734 | C | T |
c.3878C>T
|
p.Thr1293Ile
|
- | 3.0 |
|
B | |
| 21945 | chr7 | 116795750 | A | T |
c.3894A>T
|
p.Gln1298His
|
- | 3.0 |
|
B | |
| 28754 | chr7 | 116795794 | AAGTAGTCTTT | A |
c.3935+4_3935+13del
|
-
|
- | 3.0 |
|
B | |
| 28755 | chr7 | 116795874 | C | T |
c.3936-13C>T
|
-
|
- | 3.0 |
|
B | |
| 6736 | chr7 | 116795930 | C | T |
c.3979C>T
|
p.Arg1327Cys
|
- | 3.0 |
|
B | |
| 25518 | chr7 | 116795937 | C | T |
c.3986C>T
|
p.Ser1329Phe
|
3.0 |
|
B | ||
| 19063 | chr7 | 116796011 | G | A |
c.4060G>A
|
p.Ala1354Thr
|
2.5 |
|
B | ||
| 790 | chr7 | 116796017 | T | A |
c.4066T>A
|
p.Tyr1356Asn
|
- | 3.0 |
|
B | |
| 8932 | chr7 | 116796053 | C | G |
c.4102C>G
|
p.Leu1368Val
|
- | 3.0 |
|
B | |
| 4837 | chr7 | 116906267 | A | ACACCTTAT |
c.431_432insCACCTTAT
|
p.Gly145ThrfsTer7
|
- | 3.0 |
|
B | |
| 3402 | chr7 | 120967576 | C | T |
c.484C>T
|
p.Pro162Ser
|
- | 3.0 |
|
B | |
| 3421 | chr7 | 120967577 | C | T |
c.485C>T
|
p.Pro162Leu
|
- | 3.0 |
|
B | |
| 4499 | chr7 | 122474509 | G | A |
c.1870C>T
|
p.Arg624Cys
|
3.0 |
|
B | ||
| 8933 | chr7 | 124824075 | C | A |
c.1793-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 21518 | chr7 | 124824090 | C | CA |
c.1793-17dup
|
-
|
2.0 |
|
B | ||
| 19064 | chr7 | 124825246 | G | A |
c.1792+6C>T
|
-
|
- | 3.0 |
|
B | |
| 19065 | chr7 | 124825267 | G | A |
c.1777C>T
|
p.Pro593Ser
|
- | 3.0 |
|
B | |
| 19916 | chr7 | 124825360 | TA | T |
c.1687-4del
|
-
|
- | 3.0 |
|
B | |
| 19066 | chr7 | 124825363 | A | C |
c.1687-6T>G
|
-
|
3.0 |
|
B | ||
| 1419 | chr7 | 124827222 | T | G |
c.1678A>C
|
p.Met560Leu
|
3.0 |
|
B |