Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26865 | chr2 | 25246003 | C | T |
c.1474+17G>A
|
-
|
- | 3.0 |
|
B | |
| 33749 | chr2 | 25246006 | G | A |
c.1474+14C>T
|
-
|
- | 3.0 |
|
B | |
| 25039 | chr2 | 25246061 | C | T |
c.1433G>A
|
p.Arg478Gln
|
3.0 |
|
B | ||
| 5852 | chr2 | 25246159 | C | T |
c.1429+1G>A
|
p.?
|
4.0 |
|
B | ||
| 16685 | chr2 | 25246216 | C | T |
c.1373G>A
|
p.Arg458Gln
|
3.0 |
|
B | ||
| 4461 | chr2 | 25246297 | G | A |
c.1292C>T
|
p.Pro431Leu
|
- | 3.0 |
|
B | |
| 23688 | chr2 | 25246620 | C | T |
c.1279G>A
|
p.Glu427Lys
|
3.0 |
|
B | ||
| 9324 | chr2 | 25246746 | G | A |
c.1153C>T
|
p.Pro385Ser
|
- | 3.0 |
|
B | |
| 26935 | chr2 | 25247041 | G | T |
c.1122+10C>A
|
-
|
- | 3.0 |
|
B | |
| 31500 | chr2 | 25247073 | T | TTGCGGTACATGG |
c.1088_1099dup
|
p.Arg366_Lys367insThrMetTyrArg
|
- | 3.0 |
|
B | |
| 23279 | chr2 | 25247149 | C | G |
c.1024G>C
|
p.Glu342Gln
|
- | 3.0 |
|
B | |
| 22019 | chr2 | 25249691 | C | T |
c.640-1439G>A
|
-
|
2.5 |
|
B | ||
| 32005 | chr2 | 25274951 | C | A |
c.629G>T
|
p.Trp210Leu
|
- | 3.0 |
|
B | |
| 16686 | chr2 | 25274970 | C | T |
c.610G>A
|
p.Asp204Asn
|
- | 3.0 |
|
B | |
| 16354 | chr2 | 25274981 | T | A |
c.599A>T
|
p.Lys200Met
|
- | 3.0 |
|
B | |
| 23029 | chr2 | 25275038 | C | T |
c.542G>A
|
p.Arg181His
|
- | 3.0 |
|
B | |
| 30935 | chr2 | 25282509 | T | A |
c.380A>T
|
p.Glu127Val
|
- | 3.0 |
|
B | |
| 9547 | chr2 | 25282538 | C | A |
c.351G>T
|
p.Glu117Asp
|
- | 3.0 |
|
B | |
| 16687 | chr2 | 25282549 | C | T |
c.340G>A
|
p.Ala114Thr
|
3.0 |
|
B | ||
| 34326 | chr2 | 25282572 | G | A |
c.317C>T
|
p.Pro106Leu
|
- | 3.0 |
|
B |