Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11715 | chr12 | 40346923 | G | A |
c.6280G>A
|
p.Asp2094Asn
|
3.0 |
|
B | ||
| 10917 | chr12 | 40348486 | C | G |
c.6358C>G
|
p.Gln2120Glu
|
- | 3.0 |
|
B | |
| 28465 | chr12 | 40351584 | C | T |
c.6427C>T
|
p.Arg2143Cys
|
3.0 |
|
B | ||
| 6184 | chr12 | 40351585 | G | A |
c.6428G>A
|
p.Arg2143His
|
3.0 |
|
B | ||
| 22102 | chr12 | 40354299 | G | T |
c.6577G>T
|
p.Glu2193Ter
|
- | 3.0 |
|
B | |
| 20457 | chr12 | 40354374 | G | T |
c.6652G>T
|
p.Gly2218Trp
|
- | 3.0 |
|
B | |
| 6951 | chr12 | 40359280 | G | C |
c.6864G>C
|
p.Leu2288Phe
|
- | 3.0 |
|
B | |
| 32342 | chr12 | 40359345 | C | T |
c.6929C>T
|
p.Thr2310Met
|
2.0 |
|
B | ||
| 7791 | chr12 | 40363401 | G | A |
c.7029-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 21958 | chr12 | 40364996 | C | T |
c.7336C>T
|
p.Arg2446Cys
|
3.0 |
|
B | ||
| 14286 | chr12 | 45729841 | C | T |
c.5C>T
|
p.Ala2Val
|
- | 3.0 |
|
B | |
| 33773 | chr12 | 45729883 | G | A |
c.47G>A
|
p.Gly16Glu
|
- | 3.0 |
|
B | |
| 6304 | chr12 | 45729910 | A | T |
c.74A>T
|
p.Gln25Leu
|
3.0 |
|
B | ||
| 14488 | chr12 | 45730053 | TA | T |
c.109del
|
p.Ile37SerfsTer21
|
- | 4.0 |
|
B | |
| 5674 | chr12 | 45730061 | T | C |
c.110T>C
|
p.Ile37Thr
|
- | 3.0 |
|
B | |
| 6285 | chr12 | 45730131 | C | T |
c.180C>T
|
p.Phe60=
|
2.0 |
|
B | ||
| 15200 | chr12 | 45730134 | G | A |
c.183G>A
|
p.Ala61=
|
- | 3.0 |
|
B | |
| 35096 | chr12 | 45731215 | A | G |
c.187-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 1397 | chr12 | 45731237 | G | A |
c.207G>A
|
p.Trp69Ter
|
- | 4.5 |
|
B | |
| 23515 | chr12 | 45811398 | G | T |
c.285-20G>T
|
-
|
- | 3.0 |
|
B |