Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35260 | chr13 | 48476714 | T | TCCAGAAAATAAATCAGATGGTATGTAACAGCGACCGTGTGCTC |
c.2535_2577dup
|
p.Lys860ProfsTer9
|
- | 4.0 |
|
B | |
| 31831 | chr13 | 48476718 | GA | G |
c.2542del
|
p.Ile848Ter
|
- | 4.0 |
|
B | |
| 9316 | chr13 | 48476773 | G | T |
c.2593G>T
|
p.Gly865Ter
|
4.5 |
|
B | ||
| 21535 | chr13 | 48476806 | C | T |
c.2626C>T
|
p.Arg876Cys
|
2.0 |
|
B | ||
| 2459 | chr13 | 48480057 | A | G |
c.2773A>G
|
p.Lys925Glu
|
- | 3.0 |
|
B | |
| 28195 | chr13 | 48707014 | C | T |
c.197C>T
|
p.Pro66Leu
|
3.0 |
|
B | ||
| 30156 | chr13 | 48707032 | C | T |
c.215C>T
|
p.Ser72Phe
|
- | 3.0 |
|
B | |
| 13979 | chr13 | 48707215 | G | A |
c.398G>A
|
p.Ser133Asn
|
3.0 |
|
B | ||
| 17351 | chr13 | 48707493 | C | T |
c.676C>T
|
p.Arg226Trp
|
3.0 |
|
B | ||
| 20390 | chr13 | 50956450 | TA | T |
c.925del
|
p.Ile309LeufsTer26
|
3.0 |
|
B | ||
| 16807 | chr13 | 51934998 | C | T |
c.4156G>A
|
p.Ala1386Thr
|
- | 3.0 |
|
B | |
| 14218 | chr13 | 51937341 | C | T |
c.3956G>A
|
p.Arg1319Gln
|
2.0 |
|
B | ||
| 31315 | chr13 | 51937484 | G | A |
c.3895C>T
|
p.Leu1299Phe
|
3.5 |
|
B | ||
| 16808 | chr13 | 51937547 | C | T |
c.3832G>A
|
p.Ala1278Thr
|
- | 3.0 |
|
B | |
| 30427 | chr13 | 51937574 | C | G |
c.3805G>C
|
p.Val1269Leu
|
3.0 |
|
B | ||
| 27358 | chr13 | 51939164 | C | T |
c.3586G>A
|
p.Asp1196Asn
|
- | 3.0 |
|
B | |
| 29899 | chr13 | 51941110 | C | T |
c.3527G>A
|
p.Gly1176Glu
|
3.0 |
|
B | ||
| 32665 | chr13 | 51942370 | C | A |
c.3412+16G>T
|
-
|
- | 3.0 |
|
B | |
| 18979 | chr13 | 51942523 | G | A |
c.3275C>T
|
p.Thr1092Met
|
3.0 |
|
B | ||
| 26228 | chr13 | 51942532 | C | A |
c.3266G>T
|
p.Gly1089Val
|
- | 3.0 |
|
B |