Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26149 | chr15 | 98935436 | C | T |
c.3297+10C>T
|
-
|
- | 3.0 |
|
B | |
| 22934 | chr15 | 98939192 | C | T |
c.3298-9C>T
|
-
|
- | 3.0 |
|
B | |
| 8105 | chr15 | 98942947 | A | C |
c.3482A>C
|
p.Tyr1161Ser
|
- | 3.0 |
|
B | |
| 8506 | chr15 | 98957312 | C | T |
c.3974C>T
|
p.Ala1325Val
|
- | 3.0 |
|
B | |
| 11244 | chr16 | 17592 | C | T |
-
|
-
|
1.0 |
|
B | ||
| 3702 | chr16 | 64763 | G | A |
c.184C>T
|
p.Pro62Ser
|
3.0 |
|
B | ||
| 29805 | chr16 | 288190 | G | A |
c.2521C>T
-
|
p.Arg841Ter
-
|
4.5 |
|
B | ||
| 7089 | chr16 | 289509 | G | A |
c.2393C>T
-
|
p.Thr798Ile
-
|
3.0 |
|
B | ||
| 5044 | chr16 | 289519 | G | A |
c.2383C>T
-
|
p.Pro795Ser
-
|
- | 3.0 |
|
B | |
| 32645 | chr16 | 293540 | G | A |
c.2134C>T
|
p.Arg712Ter
|
- | 4.0 |
|
B | |
| 25451 | chr16 | 293557 | T | G |
c.2117A>C
|
p.Gln706Pro
|
- | 3.0 |
|
B | |
| 33957 | chr16 | 297713 | C | T |
c.1784+9G>A
|
-
|
- | 3.0 |
|
B | |
| 28174 | chr16 | 297783 | A | G |
c.1723T>C
|
p.Ser575Pro
|
- | 3.0 |
|
B | |
| 31676 | chr16 | 297969 | G | A |
c.1537C>T
|
p.His513Tyr
|
- | 3.0 |
|
B | |
| 17891 | chr16 | 298003 | C | G |
c.1503G>C
|
p.Lys501Asn
|
- | 3.0 |
|
B | |
| 33460 | chr16 | 298077 | G | A |
c.1429C>T
|
p.Arg477Cys
|
3.0 |
|
B | ||
| 22631 | chr16 | 304323 | C | T |
c.1235G>A
|
p.Arg412Gln
|
3.0 |
|
B | ||
| 27900 | chr16 | 309953 | A | G |
c.1116+20T>C
|
-
|
1.0 |
|
B | ||
| 21476 | chr16 | 310054 | T | TG |
c.1034dup
|
p.Tyr346IlefsTer5
|
- | 4.0 |
|
B | |
| 25741 | chr16 | 346142 | A | T |
c.878+6T>A
|
-
|
- | 3.0 |
|
B |