Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19864 | chr4 | 54234706 | TG | T |
c.-13+5298del
|
-
|
3.0 |
|
B | ||
| 29619 | chr4 | 54258773 | G | A |
c.5G>A
|
p.Gly2Glu
|
- | 3.0 |
|
B | |
| 33113 | chr4 | 54261127 | C | G |
c.82C>G
|
p.Pro28Ala
|
- | 3.0 |
|
B | |
| 29845 | chr4 | 54261145 | G | A |
c.100G>A
|
p.Glu34Lys
|
- | 3.0 |
|
B | |
| 34988 | chr4 | 54261205 | G | A |
c.160G>A
|
p.Glu54Lys
|
3.0 |
|
B | ||
| 5420 | chr4 | 54261230 | C | T |
c.185C>T
|
p.Ser62Phe
|
- | 3.0 |
|
B | |
| 11301 | chr4 | 54261362 | A | G |
c.317A>G
|
p.Gln106Arg
|
- | 3.0 |
|
B | |
| 27793 | chr4 | 54261374 | A | G |
c.329A>G
|
p.Asn110Ser
|
2.0 |
|
B | ||
| 18390 | chr4 | 54263763 | C | T |
c.464C>T
|
p.Pro155Leu
|
- | 3.0 |
|
B | |
| 35307 | chr4 | 54263769 | C | A |
c.470C>A
|
p.Thr157Asn
|
- | 3.0 |
|
B | |
| 16713 | chr4 | 54263912 | G | A |
c.613G>A
|
p.Val205Ile
|
2.5 |
|
B | ||
| 13143 | chr4 | 54263949 | T | G |
c.628+22T>G
|
-
|
- | 3.0 |
|
B | |
| 9312 | chr4 | 54264925 | C | T |
c.635C>T
|
p.Ser212Leu
|
- | 3.0 |
|
B | |
| 3040 | chr4 | 54264975 | G | A |
c.685G>A
|
p.Glu229Lys
|
- | 3.0 |
|
B | |
| 27300 | chr4 | 54264994 | G | T |
c.704G>T
|
p.Cys235Phe
|
- | 3.0 |
|
B | |
| 29994 | chr4 | 54265038 | C | T |
c.748C>T
|
p.Pro250Ser
|
- | 3.0 |
|
B | |
| 7442 | chr4 | 54265044 | G | A |
c.754G>A
|
p.Glu252Lys
|
3.0 |
|
B | ||
| 12521 | chr4 | 54267324 | AGTCCCATCCATCAAATTGGTGTACACTTTGACG | A |
c.801_833del
|
p.Ser268_Pro278del
|
- | 3.0 |
|
B | |
| 8625 | chr4 | 54267391 | T | C |
c.862T>C
|
p.Tyr288His
|
- | 3.5 |
|
B | |
| 15403 | chr4 | 54267392 | A | G |
c.863A>G
|
p.Tyr288Cys
|
- | 4.0 |
|
B |