Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 622 | chr11 | 92890746 | C | A |
c.13403C>A
|
p.Pro4468His
|
- | 3.0 |
|
B | |
| 22501 | chr11 | 92890827 | C | T |
c.13484C>T
|
p.Pro4495Leu
|
- | 3.0 |
|
B | |
| 21058 | chr11 | 92890895 | G | A |
c.13552G>A
|
p.Ala4518Thr
|
- | 3.0 |
|
B | |
| 5658 | chr11 | 92891002 | C | G |
c.13659C>G
|
p.Cys4553Trp
|
- | 3.0 |
|
B | |
| 16787 | chr11 | 93784527 | G | A |
c.14G>A
|
p.Arg5His
|
3.0 |
|
B | ||
| 10728 | chr11 | 93784546 | C | T |
c.33C>T
|
p.Ile11=
|
- | 3.0 |
|
B | |
| 6005 | chr11 | 93784595 | G | C |
c.82G>C
|
p.Glu28Gln
|
- | 3.0 |
|
B | |
| 27585 | chr11 | 93784689 | A | AGGC |
c.182_184dup
|
p.Ala61dup
|
- | 3.0 |
|
B | |
| 26498 | chr11 | 93788170 | A | G |
c.417+3A>G
|
-
|
- | 3.0 |
|
B | |
| 14696 | chr11 | 93790569 | G | T |
c.418-5G>T
|
-
|
- | 3.0 |
|
B | |
| 24306 | chr11 | 93790710 | C | G |
c.554C>G
|
p.Ser185Cys
|
- | 3.0 |
|
B | |
| 2922 | chr11 | 93793745 | C | T |
c.655C>T
|
p.His219Tyr
|
- | 3.0 |
|
B | |
| 32988 | chr11 | 93793844 | G | A |
c.754G>A
|
p.Glu252Lys
|
- | 3.0 |
|
B | |
| 32466 | chr11 | 93795015 | C | T |
c.967C>T
|
p.Pro323Ser
|
3.0 |
|
B | ||
| 22202 | chr11 | 93795048 | C | T |
c.1000C>T
|
p.Gln334Ter
|
- | 3.0 |
|
B | |
| 25969 | chr11 | 93795058 | C | T |
c.1010C>T
|
p.Pro337Leu
|
3.0 |
|
B | ||
| 28866 | chr11 | 93796420 | A | T |
c.1023A>T
|
p.Leu341Phe
|
- | 3.0 |
|
B | |
| 6302 | chr11 | 93796493 | G | T |
c.1096G>T
|
p.Asp366Tyr
|
- | 3.0 |
|
B | |
| 28359 | chr11 | 93796553 | A | C |
c.1143+13A>C
|
-
|
- | 3.0 |
|
B | |
| 22763 | chr11 | 93797606 | G | C |
c.1215G>C
|
p.Met405Ile
|
- | 3.0 |
|
B |