Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13955 | chr19 | 38510789 | G | A |
c.9122+8G>A
|
-
|
2.5 |
|
B | ||
| 34354 | chr19 | 38510801 | G | A |
c.9122+20G>A
|
-
|
- | 3.0 |
|
B | |
| 32115 | chr19 | 38511562 | C | T |
c.9124C>T
|
p.Leu3042Phe
|
- | 3.0 |
|
B | |
| 2732 | chr19 | 38511586 | G | A |
c.9148G>A
|
p.Val3050Ile
|
2.0 |
|
B | ||
| 10705 | chr19 | 38511590 | G | A |
c.9152G>A
|
p.Arg3051His
|
3.0 |
|
B | ||
| 7453 | chr19 | 38512068 | C | T |
c.9173-4C>T
|
-
|
- | 3.0 |
|
B | |
| 30265 | chr19 | 38512249 | G | A |
c.9238G>A
|
p.Val3080Met
|
3.0 |
|
B | ||
| 1250 | chr19 | 38512264 | CCT | C |
c.9254_9255del
|
p.Pro3085ArgfsTer70
|
- | 3.0 |
|
B | |
| 2192 | chr19 | 38512326 | G | T |
c.9315G>T
|
p.Lys3105Asn
|
- | 3.0 |
|
B | |
| 16188 | chr19 | 38512333 | G | A |
c.9322G>A
|
p.Glu3108Lys
|
- | 3.0 |
|
B | |
| 17358 | chr19 | 38512346 | TG | T |
c.9338del
|
p.Gly3113AlafsTer10
|
- | 3.0 |
|
B | |
| 5476 | chr19 | 38512380 | A | T |
c.9369A>T
|
p.Lys3123Asn
|
- | 3.0 |
|
B | |
| 2348 | chr19 | 38512491 | C | T |
c.9472+8C>T
|
-
|
2.5 |
|
B | ||
| 7143 | chr19 | 38515012 | CCT | C |
c.9473-13_9473-12del
|
-
|
2.5 |
|
B | ||
| 2789 | chr19 | 38515080 | G | C |
c.9527G>C
|
p.Gly3176Ala
|
- | 3.0 |
|
B | |
| 31936 | chr19 | 38516155 | C | A |
c.9623C>A
|
p.Pro3208Gln
|
- | 3.0 |
|
B | |
| 3861 | chr19 | 38516166 | G | A |
c.9634G>A
|
p.Glu3212Lys
|
3.0 |
|
B | ||
| 13176 | chr19 | 38516236 | G | A |
c.9685+19G>A
|
-
|
3.0 |
|
B | ||
| 18870 | chr19 | 38517425 | C | A |
c.9752C>A
|
p.Ala3251Glu
|
- | 3.0 |
|
B | |
| 32804 | chr19 | 38517532 | C | T |
c.9859C>T
|
p.Arg3287Cys
|
2.5 |
|
B |