Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35025 | chr15 | 48421683 | T | A |
c.7574A>T
|
p.Asn2525Ile
|
- | 3.0 |
|
B | |
| 26473 | chr15 | 48425357 | A | G |
c.7453+12T>C
|
-
|
- | 3.0 |
|
B | |
| 28868 | chr15 | 48425456 | T | C |
c.7366A>G
|
p.Asn2456Asp
|
- | 3.0 |
|
B | |
| 30549 | chr15 | 48425462 | G | C |
c.7360C>G
|
p.Pro2454Ala
|
- | 3.0 |
|
B | |
| 22169 | chr15 | 48425492 | C | T |
c.7331-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 22170 | chr15 | 48425499 | C | T |
c.7331-8G>A
|
-
|
3.0 |
|
B | ||
| 32504 | chr15 | 48425725 | A | G |
c.7330+14T>C
|
-
|
- | 3.0 |
|
B | |
| 22171 | chr15 | 48425763 | C | G |
c.7306G>C
|
p.Asp2436His
|
- | 3.0 |
|
B | |
| 22172 | chr15 | 48425789 | C | G |
c.7280G>C
|
p.Cys2427Ser
|
- | 3.0 |
|
B | |
| 13775 | chr15 | 48430680 | C | A |
c.6862G>T
|
p.Gly2288Cys
|
- | 3.0 |
|
B | |
| 30787 | chr15 | 48432984 | T | C |
c.6621A>G
|
p.Ile2207Met
|
- | 3.0 |
|
B | |
| 24916 | chr15 | 48434579 | G | T |
c.6616+15C>A
|
-
|
- | 3.0 |
|
B | |
| 24794 | chr15 | 48437089 | GA | G |
c.6380-13del
|
-
|
2.5 |
|
B | ||
| 20464 | chr15 | 48437311 | A | T |
c.6379+11T>A
|
-
|
- | 2.5 |
|
B | |
| 32523 | chr15 | 48437360 | C | T |
c.6341G>A
|
p.Gly2114Glu
|
- | 3.0 |
|
B | |
| 26892 | chr15 | 48437806 | C | A |
c.6275G>T
|
p.Trp2092Leu
|
- | 3.0 |
|
B | |
| 25294 | chr15 | 48437866 | G | T |
c.6215C>A
|
p.Ser2072Ter
|
3.0 |
|
B | ||
| 34296 | chr15 | 48441765 | C | A |
c.6119G>T
|
p.Cys2040Phe
|
- | 3.0 |
|
B | |
| 14352 | chr15 | 48445356 | T | A |
c.5917+20A>T
|
-
|
- | 3.0 |
|
B | |
| 30322 | chr15 | 48463242 | T | C |
c.5066-2A>G
|
p.?
|
- | 3.0 |
|
B |