Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31139 | chr2 | 47409777 | G | T |
c.367-317G>T
|
-
|
3.0 |
|
B | ||
| 12901 | chr2 | 47410143 | A | G |
c.416A>G
|
p.Asn139Ser
|
3.0 |
|
B | ||
| 2185 | chr2 | 47410199 | C | A |
c.472C>A
|
p.Gln158Lys
|
- | 3.0 |
|
B | |
| 1880 | chr2 | 47410223 | G | A |
c.496G>A
|
p.Val166Met
|
2.5 |
|
B | ||
| 27037 | chr2 | 47412448 | GA | G |
c.687del
|
p.Ala230LeufsTer16
|
4.5 |
|
B | ||
| 16032 | chr2 | 47414374 | A | C |
c.898A>C
|
p.Met300Leu
|
- | 3.0 |
|
B | |
| 17540 | chr2 | 47416430 | G | C |
c.1076+1G>C
|
p.?
|
4.5 |
|
B | ||
| 26698 | chr2 | 47429732 | T | C |
c.1077-10T>C
|
-
|
1.0 |
|
B | ||
| 6106 | chr2 | 47429758 | G | A |
c.1093G>A
|
p.Ala365Thr
|
- | 2.5 |
|
B | |
| 22185 | chr2 | 47429767 | G | C |
c.1102G>C
|
p.Glu368Gln
|
- | 3.0 |
|
B | |
| 117 | chr2 | 47429812 | C | T |
c.1147C>T
|
p.Arg383Ter
|
5.0 |
|
A | ||
| 2461 | chr2 | 47429869 | C | T |
c.1204C>T
|
p.Gln402Ter
|
4.5 |
|
B | ||
| 17541 | chr2 | 47445602 | GT | G |
c.1333del
|
p.Ser445LeufsTer9
|
- | 4.0 |
|
B | |
| 31575 | chr2 | 47463012 | C | T |
c.1387-19C>T
|
-
|
- | 2.0 |
|
B | |
| 19186 | chr2 | 47463043 | G | A |
c.1399G>A
|
p.Glu467Lys
|
- | 3.0 |
|
B | |
| 32558 | chr2 | 47463062 | C | T |
c.1418C>T
|
p.Ser473Leu
|
2.5 |
|
B | ||
| 10289 | chr2 | 47466747 | C | T |
c.1600C>T
|
p.Arg534Cys
|
2.5 |
|
B | ||
| 30971 | chr2 | 47470946 | C | T |
c.1662-19C>T
|
-
|
- | 2.5 |
|
B | |
| 35490 | chr2 | 47470979 | T | C |
c.1676T>C
|
p.Leu559Ser
|
2.5 |
|
B | ||
| 2375 | chr2 | 47471069 | T | G |
c.1759+7T>G
|
-
|
2.5 |
|
B |