Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13940 | chr1 | 237660960 | C | T |
c.8436+13C>T
|
-
|
- | 3.0 |
|
B | |
| 14314 | chr1 | 237660964 | G | A |
c.8436+17G>A
|
-
|
- | 2.5 |
|
B | |
| 16392 | chr1 | 237666508 | C | G |
c.8437-4C>G
|
-
|
- | 3.0 |
|
B | |
| 24524 | chr1 | 237667951 | G | T |
c.8583G>T
|
p.Glu2861Asp
|
- | 3.0 |
|
B | |
| 18217 | chr1 | 237674231 | C | A |
c.8714+12C>A
|
-
|
- | 3.0 |
|
B | |
| 25963 | chr1 | 237674755 | CACGCCTTCTATTGAGAA | C |
c.8743_8759del
|
p.Pro2915IlefsTer4
|
- | 3.0 |
|
B | |
| 21365 | chr1 | 237674840 | G | T |
c.8824G>T
|
p.Glu2942Ter
|
- | 3.0 |
|
B | |
| 34325 | chr1 | 237680458 | C | T |
c.8898C>T
|
p.Val2966=
|
2.0 |
|
B | ||
| 34453 | chr1 | 237698959 | C | T |
c.9068-6C>T
|
-
|
- | 3.0 |
|
B | |
| 28737 | chr1 | 237700225 | C | A |
c.9129-4C>A
|
-
|
- | 3.0 |
|
B | |
| 35588 | chr1 | 237700259 | TA | T |
c.9163del
|
p.Ser3055ValfsTer67
|
- | 3.0 |
|
B | |
| 11295 | chr1 | 237700404 | C | A |
c.9304C>A
|
p.Leu3102Met
|
- | 3.0 |
|
B | |
| 33996 | chr1 | 237707048 | G | T |
c.9680G>T
|
p.Arg3227Leu
|
- | 3.0 |
|
B | |
| 33311 | chr1 | 237708918 | C | T |
c.9962C>T
|
p.Pro3321Leu
|
3.0 |
|
B | ||
| 17639 | chr1 | 237708937 | G | T |
c.9981G>T
|
p.Lys3327Asn
|
- | 3.0 |
|
B | |
| 13209 | chr1 | 237708972 | A | G |
c.10016A>G
|
p.His3339Arg
|
- | 3.0 |
|
B | |
| 31748 | chr1 | 237708995 | G | T |
c.10039G>T
|
p.Asp3347Tyr
|
3.0 |
|
B | ||
| 31238 | chr1 | 237709103 | G | T |
c.10142+5G>T
|
-
|
- | 3.0 |
|
B | |
| 32227 | chr1 | 237717181 | T | TGC |
c.10324-17_10324-16insGC
|
-
|
- | 3.0 |
|
B | |
| 13389 | chr1 | 237718457 | G | T |
c.10495-5G>T
|
-
|
- | 3.0 |
|
B |