Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8836 | chr12 | 57471109 | A | T |
c.2369A>T
-
|
p.Tyr790Phe
-
|
- | 3.0 |
|
B | |
| 8837 | chr12 | 57471111 | C | T |
c.2371C>T
-
|
p.Pro791Ser
-
|
- | 3.0 |
|
B | |
| 9079 | chr12 | 57471189 | G | A |
c.2449G>A
-
|
p.Glu817Lys
-
|
- | 3.0 |
|
B | |
| 6435 | chr12 | 57471243 | GC | G |
c.2506del
-
|
p.His836ThrfsTer110
-
|
- | 3.0 |
|
B | |
| 6436 | chr12 | 57471248 | C | A |
c.2508C>A
-
|
p.His836Gln
-
|
3.0 |
|
B | ||
| 6952 | chr12 | 57471253 | G | T |
c.2513G>T
-
|
p.Ser838Ile
-
|
- | 3.0 |
|
B | |
| 15283 | chr12 | 57471271 | C | A |
c.2531C>A
-
|
p.Pro844Gln
-
|
- | 3.0 |
|
B | |
| 32251 | chr12 | 57471358 | T | A |
c.2618T>A
-
|
p.Leu873His
-
|
- | 3.0 |
|
B | |
| 10754 | chr12 | 57471492 | GC | G |
c.2757del
-
|
p.Ala920ProfsTer26
-
|
- | 3.0 |
|
B | |
| 26453 | chr12 | 57471498 | G | A |
c.2758G>A
-
|
p.Ala920Thr
-
|
3.0 |
|
B | ||
| 10990 | chr12 | 57471538 | G | A |
c.2798G>A
-
|
p.Gly933Asp
-
|
1.0 |
|
B | ||
| 15284 | chr12 | 57471553 | C | G |
c.2813C>G
-
|
p.Pro938Arg
-
|
- | 3.0 |
|
B | |
| 26399 | chr12 | 57471672 | G | A |
c.2932G>A
-
|
p.Ala978Thr
-
|
3.0 |
|
B | ||
| 28491 | chr12 | 57471882 | G | A |
c.3142G>A
-
|
p.Asp1048Asn
-
|
3.0 |
|
B | ||
| 23140 | chr12 | 57472032 | G | A |
c.3292G>A
-
|
p.Glu1098Lys
-
|
- | 3.0 |
|
B | |
| 10991 | chr12 | 57472038 | G | C |
c.3298G>C
-
|
p.Glu1100Gln
-
|
1.0 |
|
B | ||
| 33503 | chr12 | 57475306 | G | A |
-
c.1537C>T
|
-
p.Arg513Trp
|
- | 3.0 |
|
B | |
| 11129 | chr12 | 57488092 | T | G |
c.2T>G
|
p.Met1?
|
- | 3.0 |
|
B | |
| 18627 | chr12 | 57517078 | G | A |
-
c.241C>T
|
-
p.His81Tyr
|
- | 3.0 |
|
B | |
| 27570 | chr12 | 57525517 | GCTTTT | G |
c.551_555del
-
|
p.Leu184ProfsTer6
-
|
- | 3.5 |
|
B |