Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9886 | chr2 | 60922035 | G | T |
c.1264G>T
|
p.Asp422Tyr
|
- | 3.0 |
|
B | |
| 27911 | chr2 | 60922233 | G | GA |
c.1466dup
|
p.Asn489LysfsTer5
|
- | 3.0 |
|
B | |
| 14033 | chr2 | 61478919 | T | TCC |
c.3116_3117insGG
|
p.Ile1040GlufsTer2
|
- | 3.0 |
|
B | |
| 15991 | chr2 | 61482462 | G | C |
c.2890C>G
|
p.Pro964Ala
|
- | 3.0 |
|
B | |
| 21781 | chr2 | 61484096 | C | G |
c.2518G>C
|
p.Glu840Gln
|
- | 3.0 |
|
B | |
| 125 | chr2 | 61492337 | C | T |
c.1711G>A
|
p.Glu571Lys
|
4.67 |
|
A | ||
| 35589 | chr2 | 61493990 | C | G |
c.1149G>C
|
p.Glu383Asp
|
- | 3.0 |
|
B | |
| 6441 | chr2 | 61494025 | A | T |
c.1114T>A
|
p.Tyr372Asn
|
- | 3.0 |
|
B | |
| 32436 | chr2 | 61495445 | C | T |
c.1047+10G>A
|
-
|
3.0 |
|
B | ||
| 26788 | chr2 | 61498655 | G | A |
c.759+18C>T
|
-
|
- | 3.0 |
|
B | |
| 5605 | chr2 | 61498723 | G | A |
c.709C>T
|
p.Pro237Ser
|
- | 3.0 |
|
B | |
| 2288 | chr2 | 61498915 | T | TA |
c.591-3dup
|
-
|
2.0 |
|
B | ||
| 23387 | chr2 | 61502329 | G | A |
c.302-19C>T
|
-
|
3.0 |
|
B | ||
| 9548 | chr2 | 61533858 | G | A |
c.40C>T
|
p.Arg14Cys
|
3.0 |
|
B | ||
| 4630 | chr2 | 61827182 | G | A |
c.1928C>T
|
p.Ser643Leu
|
- | 3.0 |
|
B | |
| 13614 | chr2 | 62707193 | TG | T |
c.4del
|
p.Ala2LeufsTer41
|
- | 3.0 |
|
B | |
| 7276 | chr2 | 62707259 | C | G |
c.68C>G
|
p.Ser23Cys
|
- | 3.0 |
|
B | |
| 26676 | chr2 | 62747422 | G | A |
c.132G>A
|
p.Trp44Ter
|
- | 3.0 |
|
B | |
| 33882 | chr2 | 62764326 | C | T |
c.223C>T
|
p.Pro75Ser
|
- | 3.0 |
|
B | |
| 13816 | chr2 | 62771390 | A | G |
c.310A>G
|
p.Asn104Asp
|
- | 3.0 |
|
B |