Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26778 | chr21 | 41471846 | G | C |
c.1035C>G
|
p.Asp345Glu
|
- | 3.0 |
|
B | |
| 5504 | chr21 | 41471925 | A | G |
c.956T>C
|
p.Phe319Ser
|
- | 3.0 |
|
B | |
| 4606 | chr21 | 41471961 | T | C |
c.920A>G
|
p.His307Arg
|
- | 3.0 |
|
B | |
| 7454 | chr21 | 41473355 | C | T |
c.869G>A
|
p.Trp290Ter
|
- | 3.0 |
|
B | |
| 28983 | chr21 | 41473410 | T | A |
c.814A>T
|
p.Ser272Cys
|
- | 3.0 |
|
B | |
| 28337 | chr21 | 41473440 | C | T |
c.784G>A
|
p.Ala262Thr
|
3.0 |
|
B | ||
| 7275 | chr21 | 41473446 | C | T |
c.778G>A
|
p.Glu260Lys
|
3.0 |
|
B | ||
| 5983 | chr21 | 41473452 | C | T |
c.772G>A
|
p.Gly258Ser
|
3.0 |
|
B | ||
| 20926 | chr21 | 41473455 | C | T |
c.769G>A
|
p.Val257Met
|
3.0 |
|
B | ||
| 17425 | chr21 | 41480540 | G | A |
c.508C>T
|
p.Pro170Ser
|
- | 3.0 |
|
B | |
| 10533 | chr21 | 41488515 | T | G |
c.326-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 18820 | chr21 | 41489606 | G | A |
c.239-13C>T
|
-
|
- | 3.0 |
|
B | |
| 18821 | chr21 | 41489607 | G | A |
c.239-14C>T
|
-
|
- | 3.0 |
|
B | |
| 26625 | chr21 | 41494406 | G | A |
c.188C>T
|
p.Pro63Leu
|
3.0 |
|
B | ||
| 29226 | chr21 | 41494449 | C | T |
c.145G>A
|
p.Val49Met
|
3.0 |
|
B | ||
| 9291 | chr21 | 41494514 | G | A |
c.80C>T
|
p.Pro27Leu
|
3.0 |
|
B | ||
| 29677 | chr21 | 41494548 | C | T |
c.46G>A
|
p.Glu16Lys
|
3.0 |
|
B | ||
| 27488 | chr21 | 41494594 | G | A |
c.16-16C>T
|
-
|
- | 3.0 |
|
B | |
| 17426 | chr21 | 41504902 | C | T |
c.-57+3179G>A
|
-
|
- | 3.0 |
|
B | |
| 32790 | chr21 | 41505014 | G | C |
c.-57+3067C>G
|
-
|
- | 3.0 |
|
B |