Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26732 | chr17 | 77402575 | C | T |
c.593C>T
|
p.Ala198Val
|
2.0 |
|
B | ||
| 20568 | chr17 | 77482135 | C | T |
c.722-9C>T
|
-
|
- | 3.0 |
|
B | |
| 14542 | chr17 | 77482192 | G | C |
c.770G>C
|
p.Arg257Thr
|
- | 3.0 |
|
B | |
| 15869 | chr17 | 77482204 | T | G |
c.782T>G
|
p.Leu261Arg
|
- | 3.0 |
|
B | |
| 15211 | chr17 | 77488239 | G | C |
c.1043-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 23532 | chr17 | 77488715 | T | C |
c.1125-12T>C
|
-
|
- | 3.0 |
|
B | |
| 15779 | chr17 | 77492619 | A | C |
c.1381-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 23967 | chr17 | 77492694 | G | A |
c.1454G>A
|
p.Arg485Gln
|
3.0 |
|
B | ||
| 33828 | chr17 | 77492719 | G | A |
c.1476+3G>A
|
-
|
- | 3.0 |
|
B | |
| 29907 | chr17 | 77497369 | G | A |
c.1625+3G>A
|
-
|
- | 3.0 |
|
B | |
| 4545 | chr17 | 78500348 | G | A |
c.5597C>T
|
p.Thr1866Ile
|
- | 3.0 |
|
B | |
| 3556 | chr17 | 78532529 | C | T |
c.3067G>A
|
p.Asp1023Asn
|
- | 3.0 |
|
B | |
| 3493 | chr17 | 78532610 | C | T |
c.2986G>A
|
p.Asp996Asn
|
- | 3.0 |
|
B | |
| 13594 | chr17 | 78572869 | C | G |
c.371G>C
|
p.Ser124Thr
|
- | 3.0 |
|
B | |
| 26346 | chr17 | 78997382 | G | A |
c.241C>T
|
p.Gln81Ter
|
- | 3.0 |
|
B | |
| 21347 | chr17 | 78997457 | G | A |
c.166C>T
|
p.Leu56Phe
|
- | 3.0 |
|
B | |
| 3726 | chr17 | 79735646 | G | A |
c.1003G>A
|
p.Asp335Asn
|
3.0 |
|
B | ||
| 13484 | chr17 | 79794848 | GC | G |
c.956del
|
p.Gly319AlafsTer37
|
3.0 |
|
B | ||
| 14006 | chr17 | 79794855 | CCAG | C |
c.947_949del
|
p.Ser316_Gly317delinsTrp
|
- | 3.0 |
|
B | |
| 29358 | chr17 | 79794860 | G | GCT |
c.943_944dup
|
p.Ser315ArgfsTer42
|
- | 3.0 |
|
B |