Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14297 | chr1 | 51403437 | A | T |
c.1773T>A
|
p.Asn591Lys
|
- | 3.0 |
|
B | |
| 13361 | chr1 | 51408308 | T | C |
c.1300A>G
|
p.Thr434Ala
|
- | 3.0 |
|
B | |
| 17468 | chr1 | 51409714 | T | A |
c.1114-18A>T
|
-
|
- | 3.0 |
|
B | |
| 18269 | chr1 | 51444915 | G | A |
c.928C>T
|
p.Pro310Ser
|
- | 3.0 |
|
B | |
| 20792 | chr1 | 51447116 | G | A |
c.652-11C>T
|
-
|
- | 3.0 |
|
B | |
| 20265 | chr1 | 51447116 | G | GA |
c.652-12dup
|
-
|
3.0 |
|
B | ||
| 30057 | chr1 | 51448080 | G | A |
c.617C>T
|
p.Pro206Leu
|
- | 3.0 |
|
B | |
| 24965 | chr1 | 51463792 | C | T |
c.382G>A
|
p.Asp128Asn
|
- | 3.0 |
|
B | |
| 31516 | chr1 | 51463806 | A | G |
c.376-8T>C
|
-
|
3.0 |
|
B | ||
| 21810 | chr1 | 51468513 | G | A |
c.269C>T
|
p.Ser90Leu
|
- | 3.0 |
|
B | |
| 21205 | chr1 | 51481298 | G | A |
c.50C>T
|
p.Pro17Leu
|
- | 3.0 |
|
B | |
| 4620 | chr1 | 51765980 | G | A |
c.937G>A
|
p.Asp313Asn
|
3.0 |
|
B | ||
| 3296 | chr1 | 52801871 | C | T |
c.1538C>T
|
p.Thr513Ile
|
3.0 |
|
B | ||
| 17071 | chr1 | 55039879 | ACTG | A |
c.63_65del
|
p.Leu23del
|
2.0 |
|
B | ||
| 19940 | chr1 | 55040049 | G | T |
c.207+5G>T
|
-
|
- | 3.0 |
|
B | |
| 24883 | chr1 | 55046623 | G | A |
c.500G>A
|
p.Arg167Gln
|
2.0 |
|
B | ||
| 14312 | chr1 | 55052313 | A | T |
c.559A>T
|
p.Thr187Ser
|
- | 3.0 |
|
B | |
| 12145 | chr1 | 55052672 | G | A |
c.680G>A
|
p.Gly227Asp
|
- | 3.0 |
|
B | |
| 30564 | chr1 | 55052805 | C | T |
c.799+14C>T
|
-
|
- | 3.0 |
|
B | |
| 17089 | chr1 | 55056076 | C | T |
c.883C>T
|
p.Arg295Cys
|
3.0 |
|
B |