Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10996 | chr13 | 109782884 | C | T |
c.3170G>A
|
p.Gly1057Asp
|
1.0 |
|
B | ||
| 19678 | chr13 | 109782991 | C | T |
c.3063G>A
|
p.Pro1021=
|
3.0 |
|
B | ||
| 5083 | chr13 | 109783060 | G | T |
c.2994C>A
|
p.Pro998=
|
- | 3.0 |
|
B | |
| 11772 | chr13 | 109783236 | C | G |
c.2818G>C
|
p.Ala940Pro
|
- | 3.0 |
|
B | |
| 21123 | chr13 | 109783290 | T | C |
c.2764A>G
|
p.Ile922Val
|
- | 3.0 |
|
B | |
| 13405 | chr13 | 109783423 | C | T |
c.2631G>A
|
p.Pro877=
|
2.5 |
|
B | ||
| 5136 | chr13 | 109783424 | G | T |
c.2630C>A
|
p.Pro877Gln
|
- | 3.0 |
|
B | |
| 16550 | chr13 | 109783425 | G | T |
c.2629C>A
|
p.Pro877Thr
|
- | 3.0 |
|
B | |
| 14220 | chr13 | 109783687 | G | A |
c.2367C>T
|
p.His789=
|
- | 3.0 |
|
B | |
| 17367 | chr13 | 109783947 | G | A |
c.2107C>T
|
p.Pro703Ser
|
- | 3.0 |
|
B | |
| 32512 | chr13 | 109783949 | ACGG | A |
c.2102_2104del
|
p.Ala701del
|
2.5 |
|
B | ||
| 20391 | chr13 | 109784077 | G | A |
c.1977C>T
|
p.Gly659=
|
- | 3.0 |
|
B | |
| 30247 | chr13 | 109784193 | G | A |
c.1861C>T
|
p.Pro621Ser
|
- | 3.0 |
|
B | |
| 2135 | chr13 | 109784212 | C | T |
c.1842G>A
|
p.Pro614=
|
3.0 |
|
B | ||
| 3004 | chr13 | 109784250 | G | A |
c.1804C>T
|
p.Arg602Trp
|
3.0 |
|
B | ||
| 5336 | chr13 | 109784268 | C | G |
c.1786G>C
|
p.Asp596His
|
- | 3.0 |
|
B | |
| 27479 | chr13 | 109784625 | G | C |
c.1429C>G
|
p.Pro477Ala
|
- | 3.0 |
|
B | |
| 22771 | chr13 | 109785302 | G | C |
c.752C>G
|
p.Ser251Trp
|
- | 3.0 |
|
B | |
| 20648 | chr13 | 109785841 | C | T |
c.213G>A
|
p.Pro71=
|
- | 3.0 |
|
B | |
| 24669 | chr13 | 109785870 | C | A |
c.184G>T
|
p.Ala62Ser
|
- | 3.0 |
|
B |