Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31099 | chr2 | 178601324 | C | T |
c.55673G>A
|
p.Arg18558His
|
2.5 |
|
B | ||
| 15620 | chr2 | 178601370 | G | T |
c.55627C>A
|
p.Leu18543Ile
|
3.0 |
|
B | ||
| 26489 | chr2 | 178601481 | C | T |
c.55516G>A
|
p.Asp18506Asn
|
3.0 |
|
B | ||
| 18383 | chr2 | 178601738 | C | T |
c.55352G>A
|
p.Arg18451Gln
|
3.0 |
|
B | ||
| 17128 | chr2 | 178602282 | C | T |
c.55120G>A
|
p.Glu18374Lys
|
- | 3.0 |
|
B | |
| 9983 | chr2 | 178602304 | C | G |
c.55098G>C
|
p.Glu18366Asp
|
- | 3.0 |
|
B | |
| 26921 | chr2 | 178602333 | C | T |
c.55069G>A
|
p.Glu18357Lys
|
- | 2.5 |
|
B | |
| 8326 | chr2 | 178602450 | C | T |
c.54952G>A
|
p.Asp18318Asn
|
- | 3.0 |
|
B | |
| 27741 | chr2 | 178602555 | C | G |
c.54847G>C
|
p.Asp18283His
|
- | 3.0 |
|
B | |
| 19541 | chr2 | 178602603 | GA | G |
c.54812-14del
|
-
|
2.0 |
|
B | ||
| 18648 | chr2 | 178604126 | C | T |
c.54561G>A
|
p.Trp18187Ter
|
- | 3.0 |
|
B | |
| 33315 | chr2 | 178604895 | C | T |
c.54194G>A
|
p.Arg18065His
|
2.0 |
|
B | ||
| 13615 | chr2 | 178605010 | C | T |
c.54167G>A
|
p.Arg18056Gln
|
3.0 |
|
B | ||
| 21948 | chr2 | 178605109 | C | T |
c.54068G>A
|
p.Arg18023Gln
|
2.5 |
|
B | ||
| 12592 | chr2 | 178605122 | C | T |
c.54055G>A
|
p.Glu18019Lys
|
3.0 |
|
B | ||
| 29015 | chr2 | 178605161 | C | T |
c.54016G>A
|
p.Val18006Ile
|
- | 3.0 |
|
B | |
| 15574 | chr2 | 178605404 | G | C |
c.53881+10C>G
|
-
|
- | 3.0 |
|
B | |
| 23440 | chr2 | 178605632 | C | T |
c.53663G>A
|
p.Ser17888Asn
|
3.0 |
|
B | ||
| 18251 | chr2 | 178605662 | G | T |
c.53633C>A
|
p.Thr17878Asn
|
- | 3.0 |
|
B | |
| 25876 | chr2 | 178605678 | C | T |
c.53617G>A
|
p.Glu17873Lys
|
- | 3.0 |
|
B |