Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11330 | chr8 | 55941999 | GAT | G |
c.132+10_132+11del
|
-
|
- | 3.0 |
|
B | |
| 32831 | chr8 | 55946447 | G | C |
c.133-1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 1436 | chr8 | 55946496 | A | ATGT |
c.178+5_178+7dup
|
-
|
- | 3.0 |
|
B | |
| 8835 | chr8 | 55950479 | C | A |
c.305C>A
|
p.Ala102Glu
|
- | 3.0 |
|
B | |
| 17150 | chr8 | 55950745 | G | A |
c.448G>A
|
p.Ala150Thr
|
3.0 |
|
B | ||
| 13522 | chr8 | 55952067 | C | T |
c.589C>T
|
p.Pro197Ser
|
- | 3.0 |
|
B | |
| 21399 | chr8 | 55953818 | C | T |
c.638-14C>T
|
-
|
- | 3.0 |
|
B | |
| 10308 | chr8 | 55966768 | A | T |
c.844A>T
|
p.Met282Leu
|
- | 3.0 |
|
B | |
| 9670 | chr8 | 55966862 | A | G |
c.938A>G
|
p.Glu313Gly
|
- | 3.0 |
|
B | |
| 33228 | chr8 | 55969732 | T | C |
c.989T>C
|
p.Phe330Ser
|
- | 3.0 |
|
B | |
| 11908 | chr8 | 55998378 | G | C |
c.1083G>C
|
p.Lys361Asn
|
- | 3.0 |
|
B | |
| 31279 | chr8 | 55999450 | G | A |
c.1237G>A
|
p.Glu413Lys
|
- | 3.0 |
|
B | |
| 15965 | chr8 | 55999500 | T | A |
c.1287T>A
|
p.Phe429Leu
|
- | 3.0 |
|
B | |
| 18123 | chr8 | 55999540 | C | T |
c.1327C>T
|
p.Pro443Ser
|
- | 3.0 |
|
B | |
| 11824 | chr8 | 56009911 | G | A |
c.1340G>A
|
p.Arg447Lys
|
3.0 |
|
B | ||
| 10671 | chr8 | 56009962 | G | A |
c.1391G>A
|
p.Arg464His
|
3.0 |
|
B | ||
| 11990 | chr8 | 56010074 | C | A |
c.1503C>A
|
p.Tyr501Ter
|
- | 3.0 |
|
B | |
| 3664 | chr8 | 56113612 | C | G |
c.371G>C
|
p.Ser124Thr
|
- | 3.0 |
|
B | |
| 3665 | chr8 | 56113622 | C | G |
c.361G>C
|
p.Val121Leu
|
- | 3.0 |
|
B | |
| 14715 | chr8 | 56166446 | G | A |
c.1300C>T
|
p.Pro434Ser
|
- | 3.0 |
|
B |