Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22941 | chr17 | 12129164 | C | T |
c.917C>T
|
p.Pro306Leu
|
- | 3.0 |
|
B | |
| 6362 | chr17 | 12129172 | A | G |
c.925A>G
|
p.Lys309Glu
|
- | 3.0 |
|
B | |
| 543 | chr17 | 12129193 | C | T |
c.946C>T
|
p.Gln316Ter
|
- | 3.5 |
|
B | |
| 6363 | chr17 | 12129196 | C | A |
c.949C>A
|
p.Leu317Ile
|
- | 3.0 |
|
B | |
| 14612 | chr17 | 12129220 | C | G |
c.973C>G
|
p.Pro325Ala
|
- | 3.0 |
|
B | |
| 23530 | chr17 | 12129262 | A | T |
c.1015A>T
|
p.Ser339Cys
|
- | 3.0 |
|
B | |
| 33480 | chr17 | 12139852 | G | T |
c.1054G>T
|
p.Glu352Ter
|
- | 4.0 |
|
B | |
| 1790 | chr17 | 12141146 | GA | G |
c.1089del
|
p.Lys363AsnfsTer6
|
- | 3.5 |
|
B | |
| 28494 | chr17 | 16032500 | T | G |
c.7136-17A>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 24427 | chr17 | 16034777 | GCCTGTCTTCCCAGGC | G |
c.7108_7122del
|
p.Ala2370_Arg2374del
|
- | 3.0 |
|
B | |
| 6701 | chr17 | 16034830 | TGTACAGAGGAGACTGAA | T |
c.7053_7069del
|
p.Ser2352PhefsTer7
|
- | 4.0 |
|
B | |
| 28583 | chr17 | 16046989 | C | T |
c.6641G>A
|
p.Arg2214His
|
3.5 |
|
B | ||
| 33990 | chr17 | 16057560 | C | A |
c.6346G>T
|
p.Gly2116Cys
|
- | 3.0 |
|
B | |
| 28198 | chr17 | 16061464 | G | A |
c.5818C>T
|
p.Gln1940Ter
|
- | 4.0 |
|
B | |
| 29370 | chr17 | 16061811 | A | G |
c.5471T>C
|
p.Leu1824Pro
|
- | 3.0 |
|
B | |
| 25452 | chr17 | 16064074 | G | A |
c.5215C>T
|
p.Arg1739Trp
|
3.0 |
|
B | ||
| 12301 | chr17 | 16065709 | G | A |
c.4742-15C>T
|
-
|
3.5 |
|
B | ||
| 24378 | chr17 | 16070164 | C | A |
c.4513+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 13383 | chr17 | 16070272 | G | A |
c.4406C>T
|
p.Ala1469Val
|
- | 3.0 |
|
B | |
| 4257 | chr17 | 16073545 | G | T |
c.3695C>A
|
p.Thr1232Asn
|
- | 3.0 |
|
B |