Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8385 | chr8 | 11758338 | C | T |
c.1195C>T
|
p.Pro399Ser
|
- | 3.0 |
|
B | |
| 23357 | chr8 | 11758348 | C | T |
c.1205C>T
|
p.Ser402Leu
|
3.0 |
|
B | ||
| 4501 | chr8 | 11779751 | C | T |
c.292C>T
|
p.Leu98Phe
|
- | 3.0 |
|
B | |
| 4502 | chr8 | 12427707 | G | A |
c.842C>T
|
p.Ala281Val
|
- | 3.0 |
|
B | |
| 19613 | chr8 | 17722007 | A | T |
c.2449+1665T>A
|
-
|
- | 3.0 |
|
B | |
| 24878 | chr8 | 17935686 | G | C |
c.76G>C
|
p.Asp26His
|
- | 3.0 |
|
B | |
| 25097 | chr8 | 17937282 | C | T |
c.245C>T
|
p.Thr82Met
|
3.0 |
|
B | ||
| 18308 | chr8 | 17938731 | C | T |
c.343-9C>T
|
-
|
- | 3.0 |
|
B | |
| 17495 | chr8 | 17938736 | A | G |
c.343-4A>G
|
-
|
3.0 |
|
B | ||
| 15815 | chr8 | 17938848 | A | C |
c.451A>C
|
p.Asn151His
|
- | 3.0 |
|
B | |
| 19508 | chr8 | 17952954 | GT | G |
c.1072-7del
|
-
|
3.0 |
|
B | ||
| 14333 | chr8 | 17953057 | G | A |
c.1159G>A
|
p.Glu387Lys
|
3.0 |
|
B | ||
| 29241 | chr8 | 17953059 | A | C |
c.1161A>C
|
p.Glu387Asp
|
3.0 |
|
B | ||
| 33918 | chr8 | 17955550 | G | A |
c.1369G>A
|
p.Glu457Lys
|
3.0 |
|
B | ||
| 13650 | chr8 | 17956616 | A | T |
c.1485A>T
|
p.Glu495Asp
|
- | 3.0 |
|
B | |
| 32440 | chr8 | 17957578 | G | A |
c.1843G>A
|
p.Val615Ile
|
- | 3.0 |
|
B | |
| 19509 | chr8 | 17963089 | TA | T |
c.2464-4del
|
-
|
3.0 |
|
B | ||
| 22337 | chr8 | 17964661 | T | G |
c.2748T>G
|
p.Asp916Glu
|
- | 3.0 |
|
B | |
| 12451 | chr8 | 17967047 | G | A |
c.3289G>A
|
p.Glu1097Lys
|
3.0 |
|
B | ||
| 24369 | chr8 | 17967095 | C | T |
c.3337C>T
|
p.Pro1113Ser
|
- | 3.0 |
|
B |