Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31055 | chr10 | 8055780 | CGCTGCCGGAGGAGGTGGATGT | C |
c.129_149del
|
p.Pro44_Leu50del
|
- | 3.0 |
|
B | |
| 21192 | chr10 | 8058323 | C | T |
c.260C>T
|
p.Pro87Leu
|
3.0 |
|
B | ||
| 25160 | chr10 | 8058445 | G | A |
c.382G>A
|
p.Gly128Arg
|
- | 3.0 |
|
B | |
| 1505 | chr10 | 8058473 | C | G |
c.410C>G
|
p.Ser137Trp
|
- | 3.0 |
|
B | |
| 2051 | chr10 | 8058532 | C | T |
c.469C>T
|
p.Pro157Ser
|
- | 3.0 |
|
B | |
| 13660 | chr10 | 8058600 | C | T |
c.537C>T
|
p.Asp179=
|
3.5 |
|
B | ||
| 10028 | chr10 | 8058645 | G | A |
c.582G>A
|
p.Met194Ile
|
- | 3.0 |
|
B | |
| 24206 | chr10 | 8058668 | G | A |
c.605G>A
|
p.Arg202His
|
3.0 |
|
B | ||
| 35656 | chr10 | 8058683 | C | T |
c.620C>T
|
p.Ala207Val
|
- | 3.0 |
|
B | |
| 25161 | chr10 | 8058701 | C | T |
c.638C>T
|
p.Ser213Leu
|
3.0 |
|
B | ||
| 25162 | chr10 | 8058757 | G | C |
c.694G>C
|
p.Gly232Arg
|
- | 3.0 |
|
B | |
| 24140 | chr10 | 8058764 | TC | T |
c.708del
|
p.Ser237AlafsTer29
|
5.0 |
|
B | ||
| 1420 | chr10 | 8064095 | T | A |
c.881T>A
|
p.Met294Lys
|
- | 4.0 |
|
B | |
| 8564 | chr10 | 8069469 | TCA | T |
c.925-3_925-2del
|
p.?
|
3.5 |
|
B | ||
| 28858 | chr10 | 8069471 | A | T |
c.925-2A>T
|
p.?
|
4.0 |
|
B | ||
| 580 | chr10 | 8069512 | C | CA |
c.965dup
|
p.Thr323AspfsTer30
|
- | 4.0 |
|
B | |
| 26659 | chr10 | 8069543 | A | T |
c.995A>T
|
p.Asn332Ile
|
- | 3.0 |
|
B | |
| 15607 | chr10 | 8069549 | A | ATGGGGACCCTGTCTGCAATGCCTGTGGGCTCTAC |
c.1003_1036dup
|
p.Tyr346TrpfsTer18
|
- | 4.0 |
|
B | |
| 9282 | chr10 | 8069578 | C | T |
c.1030C>T
|
p.Leu344Phe
|
- | 3.0 |
|
B | |
| 33520 | chr10 | 8073728 | T | G |
c.1051-11T>G
|
-
|
- | 3.0 |
|
B |