Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19412 | chr3 | 49903087 | G | T |
c.523C>A
|
p.Pro175Thr
|
- | 3.0 |
|
B | |
| 4062 | chr3 | 51075381 | C | T |
c.490C>T
|
p.Arg164Trp
|
3.0 |
|
B | ||
| 15798 | chr3 | 51380172 | AC | A |
c.5555del
|
p.Pro1852GlnfsTer45
|
3.0 |
|
B | ||
| 24736 | chr3 | 51943485 | C | T |
c.130C>T
-
|
p.Arg44Cys
-
|
3.0 |
|
B | ||
| 19413 | chr3 | 51944423 | A | G |
c.346A>G
-
|
p.Thr116Ala
-
|
- | 3.0 |
|
B | |
| 24971 | chr3 | 51944780 | G | A |
c.504G>A
-
|
p.Val168=
-
|
- | 3.0 |
|
B | |
| 28973 | chr3 | 51944810 | G | T |
c.534G>T
-
|
p.Lys178Asn
-
|
- | 3.0 |
|
B | |
| 14062 | chr3 | 51944903 | G | A |
c.627G>A
-
|
p.Met209Ile
-
|
3.0 |
|
B | ||
| 7303 | chr3 | 51945008 | G | C |
c.645G>C
-
|
p.Lys215Asn
-
|
- | 3.0 |
|
B | |
| 23459 | chr3 | 51945613 | A | G |
c.980A>G
-
|
p.Gln327Arg
-
|
- | 3.0 |
|
B | |
| 31600 | chr3 | 51948321 | G | GT |
c.1443_1444insT
|
p.Asp482Ter
|
- | 3.0 |
|
B | |
| 29115 | chr3 | 51948324 | CA | C |
c.1447del
|
p.Thr483LeufsTer66
|
- | 3.0 |
|
B | |
| 29116 | chr3 | 51948332 | T | C |
c.1454T>C
|
p.Leu485Ser
|
- | 3.0 |
|
B | |
| 17253 | chr3 | 52401726 | G | A |
-
c.*562C>T
|
-
-
|
- | 3.0 |
|
B | |
| 3866 | chr3 | 52402382 | C | T |
-
c.2096G>A
|
-
p.Arg699Gln
|
3.0 |
|
B | ||
| 7986 | chr3 | 52402387 | GGAGAT | G |
-
c.2086_2090del
|
-
p.Ile696ArgfsTer19
|
- | 4.0 |
|
B | |
| 21448 | chr3 | 52402406 | A | T |
-
c.2072T>A
|
-
p.Leu691Gln
|
- | 3.0 |
|
B | |
| 5780 | chr3 | 52402422 | C | G |
-
c.2057-1G>C
|
-
p.?
|
- | 4.0 |
|
B | |
| 31554 | chr3 | 52402424 | G | C |
-
c.2057-3C>G
|
-
-
|
- | 3.5 |
|
B | |
| 29438 | chr3 | 52402608 | G | A |
-
c.2050C>T
|
-
p.Gln684Ter
|
4.5 |
|
B |