Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7014 | chr3 | 135192678 | G | A |
c.1985G>A
|
p.Arg662His
|
3.0 |
|
B | ||
| 2468 | chr3 | 135192711 | G | C |
c.2018G>C
|
p.Gly673Ala
|
- | 3.0 |
|
B | |
| 10432 | chr3 | 135192833 | A | G |
c.2130+10A>G
|
-
|
- | 3.0 |
|
B | |
| 2534 | chr3 | 135201489 | T | G |
c.2146T>G
|
p.Phe716Val
|
- | 3.0 |
|
B | |
| 25347 | chr3 | 135201582 | G | A |
c.2239G>A
|
p.Ala747Thr
|
- | 3.0 |
|
B | |
| 13480 | chr3 | 135241129 | C | T |
c.2347-19C>T
|
-
|
3.0 |
|
B | ||
| 5030 | chr3 | 135241151 | G | A |
c.2350G>A
|
p.Gly784Arg
|
- | 3.0 |
|
B | |
| 10333 | chr3 | 135241196 | C | T |
c.2395C>T
|
p.Arg799Cys
|
3.0 |
|
B | ||
| 14449 | chr3 | 135241200 | A | C |
c.2399A>C
|
p.Lys800Thr
|
- | 3.0 |
|
B | |
| 10517 | chr3 | 135241200 | A | G |
c.2399A>G
|
p.Lys800Arg
|
- | 3.0 |
|
B | |
| 10744 | chr3 | 135241215 | G | T |
c.2414G>T
|
p.Ser805Ile
|
- | 3.0 |
|
B | |
| 22496 | chr3 | 135241246 | G | A |
c.2445G>A
|
p.Trp815Ter
|
- | 3.5 |
|
B | |
| 4462 | chr3 | 135248344 | G | A |
c.2525G>A
|
p.Arg842Gln
|
3.0 |
|
B | ||
| 5063 | chr3 | 135249358 | C | T |
c.2713C>T
|
p.Arg905Cys
|
3.0 |
|
B | ||
| 35160 | chr3 | 135249361 | T | C |
c.2716T>C
|
p.Ser906Pro
|
- | 3.0 |
|
B | |
| 7300 | chr3 | 135249409 | G | A |
c.2764G>A
|
p.Ala922Thr
|
3.0 |
|
B | ||
| 28546 | chr3 | 135259029 | G | T |
c.2864G>T
|
p.Gly955Val
|
- | 3.0 |
|
B | |
| 8473 | chr3 | 135259072 | T | G |
c.2907T>G
|
p.Ile969Met
|
- | 3.0 |
|
B | |
| 29101 | chr3 | 135259107 | C | T |
c.2942C>T
|
p.Thr981Met
|
3.0 |
|
B | ||
| 29137 | chr3 | 136338393 | CAG | C |
c.3728_3729del
|
p.Ser1243CysfsTer7
|
- | 4.0 |
|
B |