Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24272 | chr4 | 122456280 | G | A |
c.147+14C>T
|
-
|
- | 3.0 |
|
B | |
| 21267 | chr4 | 122456287 | T | A |
c.147+7A>T
|
-
|
- | 3.0 |
|
B | |
| 27250 | chr4 | 122827152 | C | T |
c.-23C>T
|
-
|
- | 3.0 |
|
B | |
| 13520 | chr4 | 122827325 | G | A |
c.151G>A
|
p.Gly51Arg
|
3.0 |
|
B | ||
| 33271 | chr4 | 122827332 | G | T |
c.158G>T
|
p.Arg53Leu
|
3.0 |
|
B | ||
| 13213 | chr4 | 122827366 | C | T |
c.178+14C>T
|
-
|
3.0 |
|
B | ||
| 15653 | chr4 | 122876312 | C | T |
c.179-9C>T
|
-
|
- | 3.0 |
|
B | |
| 24498 | chr4 | 125316418 | T | G |
c.7T>G
|
p.Leu3Val
|
- | 3.0 |
|
B | |
| 14474 | chr4 | 125316726 | G | T |
c.315G>T
|
p.Val105=
|
- | 3.0 |
|
B | |
| 15623 | chr4 | 125316732 | C | T |
c.321C>T
|
p.Asn107=
|
- | 3.0 |
|
B | |
| 16984 | chr4 | 125316832 | G | A |
c.421G>A
|
p.Val141Met
|
- | 3.0 |
|
B | |
| 19253 | chr4 | 125316886 | G | A |
c.475G>A
|
p.Ala159Thr
|
- | 3.0 |
|
B | |
| 19303 | chr4 | 125316950 | A | G |
c.539A>G
|
p.Asn180Ser
|
3.0 |
|
B | ||
| 25330 | chr4 | 125316967 | C | T |
c.556C>T
|
p.Arg186Cys
|
3.0 |
|
B | ||
| 26850 | chr4 | 125317094 | C | A |
c.683C>A
|
p.Pro228His
|
- | 3.0 |
|
B | |
| 17572 | chr4 | 125317267 | C | T |
c.856C>T
|
p.Arg286Cys
|
3.0 |
|
B | ||
| 29887 | chr4 | 125317370 | C | T |
c.959C>T
|
p.Ser320Leu
|
- | 3.0 |
|
B | |
| 16444 | chr4 | 125317375 | A | G |
c.964A>G
|
p.Thr322Ala
|
- | 3.0 |
|
B | |
| 25220 | chr4 | 125317551 | C | A |
c.1140C>A
|
p.Leu380=
|
- | 3.0 |
|
B | |
| 22724 | chr4 | 125317551 | C | G |
c.1140C>G
|
p.Leu380=
|
- | 3.0 |
|
B |