Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18969 | chr19 | 35737199 | G | T |
c.7486G>T
-
|
p.Gly2496Ter
-
|
- | 4.0 |
|
B | |
| 1530 | chr19 | 35737244 | C | T |
c.7531C>T
-
|
p.Arg2511Trp
-
|
- | 3.0 |
|
B | |
| 22960 | chr19 | 35737744 | G | A |
c.7658+1G>A
-
-
|
p.?
-
-
|
- | 4.0 |
|
B | |
| 10947 | chr19 | 35737961 | G | T |
c.7742+19G>T
-
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 2246 | chr19 | 35738173 | G | T |
c.7854G>T
-
-
|
p.Glu2618Asp
-
-
|
- | 3.0 |
|
B | |
| 3736 | chr19 | 35785313 | C | G |
c.1846C>G
|
p.Arg616Gly
|
- | 3.0 |
|
B | |
| 18005 | chr19 | 35851821 | G | A |
c.17C>T
|
p.Thr6Met
|
2.0 |
|
B | ||
| 5228 | chr19 | 36719360 | T | TCCA |
c.636_637insCCA
|
p.Tyr212_Asn213insPro
|
- | 3.0 |
|
B | |
| 5748 | chr19 | 36750604 | C | A |
c.436G>T
|
p.Glu146Ter
|
- | 3.0 |
|
B | |
| 5749 | chr19 | 36750726 | C | G |
c.314G>C
|
p.Arg105Thr
|
- | 3.0 |
|
B | |
| 3460 | chr19 | 36950265 | T | A |
c.1112T>A
|
p.Phe371Tyr
|
- | 3.0 |
|
B | |
| 5229 | chr19 | 37242705 | C | T |
c.469C>T
|
p.Leu157Phe
|
3.0 |
|
B | ||
| 1039 | chr19 | 38440785 | A | T |
c.86A>T
|
p.Lys29Met
|
- | 3.0 |
|
B | |
| 9936 | chr19 | 38440790 | C | A |
c.91C>A
|
p.Gln31Lys
|
3.0 |
|
B | ||
| 6205 | chr19 | 38440817 | G | A |
c.118G>A
|
p.Gly40Ser
|
- | 3.0 |
|
B | |
| 20148 | chr19 | 38442354 | GC | G |
c.177del
|
p.Asp60IlefsTer58
|
3.0 |
|
B | ||
| 18614 | chr19 | 38443552 | C | T |
c.271-6C>T
|
-
|
- | 3.0 |
|
B | |
| 11050 | chr19 | 38443570 | G | A |
c.283G>A
|
p.Gly95Arg
|
3.0 |
|
B | ||
| 34651 | chr19 | 38443704 | C | T |
c.346-14C>T
|
-
|
- | 3.0 |
|
B | |
| 26010 | chr19 | 38444176 | C | A |
c.452C>A
|
p.Pro151Gln
|
- | 3.0 |
|
B |