Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21144 | chr2 | 178570007 | A | T |
c.76125T>A
|
p.Tyr25375Ter
|
- | 3.0 |
|
B | |
| 25611 | chr2 | 178570012 | C | T |
c.76120G>A
|
p.Asp25374Asn
|
3.0 |
|
B | ||
| 31200 | chr2 | 178570177 | C | T |
c.75955G>A
|
p.Asp25319Asn
|
- | 3.0 |
|
B | |
| 8333 | chr2 | 178570365 | T | A |
c.75767A>T
|
p.Asp25256Val
|
- | 3.0 |
|
B | |
| 34001 | chr2 | 178570753 | C | T |
c.75379G>A
|
p.Glu25127Lys
|
- | 3.0 |
|
B | |
| 34758 | chr2 | 178571232 | T | G |
c.74900A>C
|
p.Lys24967Thr
|
- | 3.0 |
|
B | |
| 18062 | chr2 | 178571341 | C | T |
c.74791G>A
|
p.Glu24931Lys
|
3.0 |
|
B | ||
| 19187 | chr2 | 178571365 | C | T |
c.74767G>A
|
p.Asp24923Asn
|
- | 3.0 |
|
B | |
| 33978 | chr2 | 178571469 | C | T |
c.74663G>A
|
p.Arg24888Lys
|
- | 3.0 |
|
B | |
| 33979 | chr2 | 178571487 | C | G |
c.74645G>C
|
p.Arg24882Thr
|
- | 3.0 |
|
B | |
| 14182 | chr2 | 178571839 | C | T |
c.74293G>A
|
p.Glu24765Lys
|
3.0 |
|
B | ||
| 33980 | chr2 | 178571858 | C | G |
c.74274G>C
|
p.Gln24758His
|
3.0 |
|
B | ||
| 13909 | chr2 | 178571936 | G | T |
c.74196C>A
|
p.Asp24732Glu
|
3.0 |
|
B | ||
| 14623 | chr2 | 178572046 | C | T |
c.74086G>A
|
p.Gly24696Ser
|
- | 3.0 |
|
B | |
| 32851 | chr2 | 178572192 | C | T |
c.73940G>A
|
p.Arg24647Gln
|
3.0 |
|
B | ||
| 8334 | chr2 | 178572286 | G | A |
c.73846C>T
|
p.Arg24616Ter
|
3.0 |
|
B | ||
| 15737 | chr2 | 178572386 | C | G |
c.73746G>C
|
p.Gln24582His
|
- | 3.0 |
|
B | |
| 27048 | chr2 | 178572660 | C | A |
c.73472G>T
|
p.Arg24491Ile
|
- | 3.0 |
|
B | |
| 17221 | chr2 | 178572999 | C | A |
c.73133G>T
|
p.Gly24378Val
|
- | 3.0 |
|
B | |
| 16521 | chr2 | 178573218 | A | T |
c.72914T>A
|
p.Ile24305Asn
|
- | 3.0 |
|
B |