Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15899 | chr4 | 142082178 | C | T |
c.2495G>A
|
p.Arg832His
|
3.0 |
|
B | ||
| 34462 | chr4 | 142086200 | G | C |
c.2431C>G
|
p.Gln811Glu
|
- | 3.0 |
|
B | |
| 22293 | chr4 | 142108180 | CATCTCCAAACCTACAAACAGAAAAAAGAAAACAGCTGTGGGTT | C |
c.2277-33_2286del
|
p.?
|
- | 4.0 |
|
B | |
| 32897 | chr4 | 142108207 | G | A |
c.2277-17C>T
|
-
|
3.0 |
|
B | ||
| 8875 | chr4 | 142123418 | G | GA |
c.1894-4dup
|
-
|
3.0 |
|
B | ||
| 1330 | chr4 | 142124619 | G | A |
c.1862C>T
|
p.Thr621Met
|
3.0 |
|
B | ||
| 12359 | chr4 | 142124667 | A | G |
c.1814T>C
|
p.Val605Ala
|
- | 3.0 |
|
B | |
| 16590 | chr4 | 142124773 | G | T |
c.1721-13C>A
|
-
|
- | 3.0 |
|
B | |
| 9660 | chr4 | 142160440 | T | C |
c.1481A>G
|
p.Glu494Gly
|
- | 3.0 |
|
B | |
| 31761 | chr4 | 142173670 | C | G |
c.1321G>C
|
p.Asp441His
|
- | 3.0 |
|
B | |
| 6181 | chr4 | 142173754 | C | A |
c.1237G>T
|
p.Val413Phe
|
- | 3.0 |
|
B | |
| 7756 | chr4 | 142193108 | C | A |
c.1160G>T
|
p.Arg387Ile
|
3.0 |
|
B | ||
| 33416 | chr4 | 142193174 | GTGA | G |
c.1091_1093del
|
p.Ile364del
|
- | 3.0 |
|
B | |
| 8462 | chr4 | 142208456 | T | G |
c.1041A>C
|
p.Gln347His
|
- | 3.0 |
|
B | |
| 22725 | chr4 | 142208914 | C | G |
c.949G>C
|
p.Glu317Gln
|
- | 3.0 |
|
B | |
| 17280 | chr4 | 142237849 | G | A |
c.836+15C>T
|
-
|
3.0 |
|
B | ||
| 17283 | chr4 | 142237850 | T | C |
c.836+14A>G
|
-
|
- | 3.0 |
|
B | |
| 989 | chr4 | 142237872 | ATCT | A |
c.825_827del
|
p.Glu275del
|
- | 3.0 |
|
B | |
| 9725 | chr4 | 142237886 | G | A |
c.814C>T
|
p.His272Tyr
|
- | 3.0 |
|
B | |
| 18632 | chr4 | 142238015 | GA | G |
c.689-5del
|
-
|
3.0 |
|
B |