Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28992 | chr6 | 123224098 | G | T |
c.2009C>A
|
p.Ala670Asp
|
- | 3.0 |
|
B | |
| 21085 | chr6 | 123224117 | C | A |
c.1990G>T
|
p.Val664Leu
|
- | 3.0 |
|
B | |
| 34821 | chr6 | 123252404 | G | A |
c.1975+8C>T
|
-
|
2.0 |
|
B | ||
| 33603 | chr6 | 123265300 | C | T |
c.1804+18G>A
|
-
|
- | 3.0 |
|
B | |
| 34732 | chr6 | 123265326 | G | T |
c.1796C>A
|
p.Pro599Gln
|
- | 3.0 |
|
B | |
| 34017 | chr6 | 123267743 | C | A |
c.1747G>T
|
p.Glu583Ter
|
- | 3.0 |
|
B | |
| 31148 | chr6 | 123271147 | T | C |
c.1712A>G
|
p.Glu571Gly
|
- | 3.0 |
|
B | |
| 16424 | chr6 | 123271196 | G | T |
c.1673-10C>A
|
-
|
- | 3.0 |
|
B | |
| 29417 | chr6 | 123273319 | G | A |
c.1624+18C>T
|
-
|
- | 3.0 |
|
B | |
| 11474 | chr6 | 123273330 | T | A |
c.1624+7A>T
|
-
|
- | 3.0 |
|
B | |
| 8329 | chr6 | 123273366 | A | C |
c.1598-3T>G
|
-
|
- | 3.0 |
|
B | |
| 22226 | chr6 | 123274678 | A | T |
c.1568-8T>A
|
-
|
- | 3.0 |
|
B | |
| 15706 | chr6 | 123278304 | TA | T |
c.1567+13del
|
-
|
- | 3.0 |
|
B | |
| 18101 | chr6 | 123278338 | C | T |
c.1547G>A
|
p.Gly516Glu
|
3.0 |
|
B | ||
| 35258 | chr6 | 123279055 | C | T |
c.1537+1G>A
|
p.?
|
3.0 |
|
B | ||
| 14853 | chr6 | 123331903 | C | T |
c.1447G>A
|
p.Val483Ile
|
- | 3.0 |
|
B | |
| 26087 | chr6 | 123337658 | C | T |
c.1381G>A
|
p.Glu461Lys
|
3.0 |
|
B | ||
| 13913 | chr6 | 123337668 | T | G |
c.1371A>C
|
p.Glu457Asp
|
- | 3.0 |
|
B | |
| 26567 | chr6 | 123337678 | G | A |
c.1370-9C>T
|
-
|
- | 3.0 |
|
B | |
| 34112 | chr6 | 123337680 | G | T |
c.1370-11C>A
|
-
|
1.0 |
|
B |