Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15439 | chr8 | 144511922 | C | T |
c.3382G>A
-
-
|
p.Gly1128Arg
-
-
|
- | 3.0 |
|
B | |
| 10131 | chr8 | 144512053 | C | G |
c.3251G>C
-
-
|
p.Ser1084Thr
-
-
|
- | 3.0 |
|
B | |
| 15353 | chr8 | 144512207 | C | A |
c.3173G>T
-
|
p.Arg1058Leu
-
|
3.0 |
|
B | ||
| 9520 | chr8 | 144512267 | C | T |
c.3113G>A
-
|
p.Arg1038His
-
|
3.0 |
|
B | ||
| 12056 | chr8 | 144512433 | C | T |
c.3014G>A
-
|
p.Arg1005Gln
-
|
1.0 |
|
B | ||
| 27471 | chr8 | 144512458 | C | T |
c.2989G>A
-
|
p.Gly997Ser
-
|
3.0 |
|
B | ||
| 27472 | chr8 | 144512459 | C | T |
c.2988G>A
-
|
p.Met996Ile
-
|
3.0 |
|
B | ||
| 28702 | chr8 | 144512466 | T | C |
c.2981A>G
-
|
p.Asp994Gly
-
|
- | 3.0 |
|
B | |
| 14842 | chr8 | 144512569 | C | T |
c.2886-8G>A
-
|
-
-
|
3.0 |
|
B | ||
| 27119 | chr8 | 144512661 | G | A |
c.2866C>T
-
|
p.Leu956Phe
-
|
3.0 |
|
B | ||
| 1475 | chr8 | 144512721 | C | G |
c.2806G>C
-
|
p.Glu936Gln
-
|
- | 3.0 |
|
B | |
| 19006 | chr8 | 144512966 | G | T |
c.2636C>A
-
|
p.Pro879His
-
|
1.5 |
|
B | ||
| 19007 | chr8 | 144513409 | G | A |
c.2272C>T
-
-
|
p.Arg758Ter
-
-
|
3.5 |
|
B | ||
| 11031 | chr8 | 144513430 | G | A |
c.2251C>T
-
-
|
p.Arg751Trp
-
-
|
3.0 |
|
B | ||
| 34174 | chr8 | 144513493 | C | G |
c.2201-13G>C
-
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 5615 | chr8 | 144513600 | A | T |
c.2171T>A
-
-
|
p.Leu724Gln
-
-
|
- | 3.0 |
|
B | |
| 29119 | chr8 | 144514100 | C | T |
c.1886G>A
-
-
|
p.Arg629Gln
-
-
|
3.0 |
|
B | ||
| 13918 | chr8 | 144514293 | G | A |
c.1774C>T
-
-
|
p.Pro592Ser
-
-
|
3.0 |
|
B | ||
| 6202 | chr8 | 144514985 | GGGCTGCGCC | G |
c.1562_1570del
-
-
|
p.Arg521_Ser523del
-
-
|
- | 3.0 |
|
B | |
| 10692 | chr8 | 144515039 | G | T |
c.1517C>A
-
-
|
p.Ala506Asp
-
-
|
- | 3.5 |
|
B |