Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30572 | chr2 | 111994365 | C | T |
c.1411C>T
|
p.Pro471Ser
|
3.0 |
|
B | ||
| 7287 | chr2 | 111997353 | C | A |
c.1481C>A
|
p.Pro494Gln
|
- | 3.0 |
|
B | |
| 21696 | chr2 | 112003980 | G | C |
c.1863G>C
|
p.Met621Ile
|
- | 3.0 |
|
B | |
| 34219 | chr2 | 112008395 | C | T |
c.1880C>T
|
p.Ser627Leu
|
3.0 |
|
B | ||
| 25358 | chr2 | 112008494 | G | A |
c.1960+19G>A
|
-
|
- | 3.0 |
|
B | |
| 20796 | chr2 | 112028562 | G | A |
c.2698G>A
|
p.Asp900Asn
|
- | 3.0 |
|
B | |
| 31467 | chr2 | 112089701 | G | C |
c.1015G>C
|
p.Val339Leu
|
- | 3.0 |
|
B | |
| 3617 | chr2 | 112568907 | G | A |
c.2074+5G>A
|
-
|
- | 3.0 |
|
B | |
| 12513 | chr2 | 113218515 | C | T |
c.*18G>A
|
-
|
- | 3.0 |
|
B | |
| 29174 | chr2 | 113220072 | G | A |
c.1276+20C>T
|
-
|
3.0 |
|
B | ||
| 35287 | chr2 | 113220130 | TAGG | T |
c.1235_1237del
|
p.Ser412del
|
- | 3.0 |
|
B | |
| 17211 | chr2 | 113227194 | C | T |
c.1150G>A
|
p.Gly384Ser
|
2.0 |
|
B | ||
| 24968 | chr2 | 113227275 | G | A |
c.1088-19C>T
|
-
|
3.0 |
|
B | ||
| 15618 | chr2 | 113236657 | G | T |
c.842C>A
|
p.Ser281Tyr
|
- | 3.0 |
|
B | |
| 27411 | chr2 | 113241586 | C | T |
c.742G>A
|
p.Ala248Thr
|
3.0 |
|
B | ||
| 10302 | chr2 | 113241684 | C | T |
c.644G>A
|
p.Ser215Asn
|
- | 3.0 |
|
B | |
| 2579 | chr2 | 113241732 | A | AC |
c.602-7dup
|
-
|
- | 3.0 |
|
B | |
| 14608 | chr2 | 113241745 | G | A |
c.602-19C>T
|
-
|
- | 3.0 |
|
B | |
| 26951 | chr2 | 113242014 | C | T |
c.595G>A
|
p.Asp199Asn
|
3.0 |
|
B | ||
| 8005 | chr2 | 113242061 | T | C |
c.548A>G
|
p.Asn183Ser
|
3.0 |
|
B |