Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19974 | chr2 | 218673659 | G | A |
c.119G>A
-
|
p.Arg40His
-
|
3.0 |
|
B | ||
| 17768 | chr2 | 218673715 | C | T |
c.175C>T
-
|
p.Arg59Trp
-
|
3.0 |
|
B | ||
| 18287 | chr2 | 218673945 | C | T |
c.292C>T
-
|
p.Pro98Ser
-
|
3.0 |
|
B | ||
| 15241 | chr2 | 218673960 | TG | T |
c.303+5del
-
|
-
-
|
- | 3.0 |
|
B | |
| 25045 | chr2 | 218675397 | C | T |
c.358C>T
-
|
p.Arg120Cys
-
|
3.0 |
|
B | ||
| 29583 | chr2 | 218676094 | T | TTTA |
c.500_501insTTA
-
|
p.Met167delinsIleTer
-
|
- | 3.0 |
|
B | |
| 22494 | chr2 | 218679158 | C | T |
c.685-10C>T
|
-
|
- | 3.0 |
|
B | |
| 31429 | chr2 | 218679207 | C | T |
c.724C>T
|
p.Arg242Ter
|
3.0 |
|
B | ||
| 7302 | chr2 | 218679241 | T | G |
c.758T>G
|
p.Phe253Cys
|
- | 3.0 |
|
B | |
| 35564 | chr2 | 218679607 | C | T |
c.826C>T
|
p.Arg276Cys
|
3.0 |
|
B | ||
| 18558 | chr2 | 218679649 | C | T |
c.868C>T
|
p.His290Tyr
|
3.0 |
|
B | ||
| 30476 | chr2 | 218680058 | G | A |
c.1114G>A
|
p.Gly372Arg
|
- | 3.0 |
|
B | |
| 34370 | chr2 | 218688739 | G | A |
c.1423G>A
|
p.Ala475Thr
|
3.0 |
|
B | ||
| 20834 | chr2 | 218692666 | A | ACTGCTC |
c.2003_2008dup
|
p.Ala668_Pro669dup
|
- | 3.0 |
|
B | |
| 27638 | chr2 | 218693232 | C | T |
c.2044-8C>T
|
-
|
- | 3.0 |
|
B | |
| 30354 | chr2 | 218693828 | C | T |
c.2247+7C>T
|
-
|
- | 3.0 |
|
B | |
| 15739 | chr2 | 218693877 | C | G |
c.2248-18C>G
|
-
|
- | 3.0 |
|
B | |
| 21297 | chr2 | 218693937 | T | C |
c.2290T>C
|
p.Tyr764His
|
3.0 |
|
B | ||
| 34371 | chr2 | 218697019 | T | G |
c.2587-20T>G
|
-
|
- | 3.0 |
|
B | |
| 25693 | chr2 | 218697840 | A | G |
c.2910-14A>G
|
-
|
3.0 |
|
B |