Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3193 | chr7 | 50400226 | G | A |
c.1159G>A
|
p.Glu387Lys
|
- | 3.0 |
|
B | |
| 489 | chr7 | 50400316 | C | T |
c.1249C>T
|
p.His417Tyr
|
- | 3.0 |
|
B | |
| 699 | chr7 | 50400388 | G | A |
c.1321G>A
|
p.Ala441Thr
|
3.0 |
|
B | ||
| 11797 | chr7 | 50400439 | C | T |
c.1372C>T
|
p.Gln458Ter
|
- | 3.5 |
|
B | |
| 23729 | chr7 | 50400460 | G | A |
c.1393G>A
|
p.Glu465Lys
|
- | 3.0 |
|
B | |
| 22328 | chr7 | 50400478 | T | G |
c.1411T>G
|
p.Phe471Val
|
- | 3.0 |
|
B | |
| 8679 | chr7 | 50400485 | ATCACGTCATGTACAC | A |
c.1419_1433del
|
p.His474_Thr478del
|
- | 3.0 |
|
B | |
| 1160 | chr7 | 50400538 | G | C |
c.1471G>C
|
p.Glu491Gln
|
- | 3.0 |
|
B | |
| 17955 | chr7 | 50400549 | G | T |
c.1482G>T
|
p.Met494Ile
|
- | 3.0 |
|
B | |
| 21929 | chr7 | 50400571 | C | T |
c.1504C>T
|
p.Arg502Trp
|
- | 3.0 |
|
B | |
| 14329 | chr7 | 50400602 | G | A |
c.1535G>A
|
p.Gly512Glu
|
- | 3.0 |
|
B | |
| 2722 | chr7 | 55019259 | A | G |
c.-19A>G
|
-
|
- | 3.0 |
|
B | |
| 2723 | chr7 | 55019261 | C | A |
c.-17C>A
|
-
|
- | 3.0 |
|
B | |
| 31572 | chr7 | 55019335 | C | T |
c.58C>T
|
p.Pro20Ser
|
- | 3.0 |
|
B | |
| 24301 | chr7 | 55019380 | C | G |
c.88+15C>G
|
-
|
- | 3.0 |
|
B | |
| 6689 | chr7 | 55142330 | G | A |
c.133G>A
|
p.Glu45Lys
|
3.0 |
|
B | ||
| 32952 | chr7 | 55142354 | A | T |
c.157A>T
|
p.Arg53Trp
|
- | 3.0 |
|
B | |
| 28072 | chr7 | 55142382 | T | G |
c.185T>G
|
p.Leu62Arg
|
- | 4.0 |
|
B | |
| 26961 | chr7 | 55142427 | C | T |
c.230C>T
|
p.Ser77Phe
|
- | 3.0 |
|
B | |
| 34439 | chr7 | 55143309 | T | G |
c.245T>G
|
p.Ile82Ser
|
- | 3.0 |
|
B |