Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20726 | chr2 | 211386892 | C | T |
c.3442G>A
|
p.Glu1148Lys
|
- | 3.0 |
|
B | |
| 21026 | chr2 | 211386910 | G | A |
c.3424C>T
|
p.Arg1142Ter
|
3.0 |
|
B | ||
| 13295 | chr2 | 211386918 | C | A |
c.3416G>T
|
p.Arg1139Leu
|
- | 3.0 |
|
B | |
| 33339 | chr2 | 211386934 | C | T |
c.3400G>A
|
p.Val1134Met
|
3.0 |
|
B | ||
| 10515 | chr2 | 211387029 | A | C |
c.3305T>G
|
p.Phe1102Cys
|
- | 3.0 |
|
B | |
| 30981 | chr2 | 211387038 | G | T |
c.3296C>A
|
p.Ala1099Asp
|
3.0 |
|
B | ||
| 5118 | chr2 | 211387108 | C | G |
c.3226G>C
|
p.Gly1076Arg
|
- | 3.0 |
|
B | |
| 26354 | chr2 | 211388005 | A | G |
c.3136-13T>C
|
-
|
- | 3.0 |
|
B | |
| 30475 | chr2 | 211420430 | T | A |
c.3135+11A>T
|
-
|
- | 3.0 |
|
B | |
| 11569 | chr2 | 211420437 | T | G |
c.3135+4A>C
|
-
|
- | 3.0 |
|
B | |
| 4214 | chr2 | 211420441 | C | T |
c.3135G>A
|
p.Arg1045=
|
- | 3.0 |
|
B | |
| 24840 | chr2 | 211420458 | T | C |
c.3118A>G
|
p.Arg1040Gly
|
- | 3.0 |
|
B | |
| 13234 | chr2 | 211420557 | G | T |
c.3019C>A
|
p.Leu1007Ile
|
- | 3.0 |
|
B | |
| 25328 | chr2 | 211420569 | A | C |
c.3007T>G
|
p.Phe1003Val
|
- | 3.0 |
|
B | |
| 11542 | chr2 | 211420573 | G | T |
c.3003C>A
|
p.Ser1001Arg
|
- | 3.0 |
|
B | |
| 19298 | chr2 | 211422032 | T | C |
c.2939A>G
|
p.Asp980Gly
|
- | 3.0 |
|
B | |
| 10719 | chr2 | 211422036 | G | A |
c.2935C>T
|
p.Arg979Ter
|
3.0 |
|
B | ||
| 6579 | chr2 | 211424153 | A | G |
c.2866+2T>C
|
p.?
|
- | 3.0 |
|
B | |
| 31641 | chr2 | 211424176 | C | A |
c.2845G>T
|
p.Val949Phe
|
- | 3.0 |
|
B | |
| 22641 | chr2 | 211424244 | G | A |
c.2777C>T
|
p.Thr926Met
|
3.0 |
|
B |