Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7815 | chr17 | 65537631 | G | A |
c.1405C>T
|
p.His469Tyr
|
3.0 |
|
B | ||
| 20416 | chr17 | 65537646 | AGCGGGG | A |
c.1384_1389del
|
p.Pro462_Arg463del
|
- | 3.0 |
|
B | |
| 2268 | chr17 | 65537820 | CCT | C |
c.1214_1215del
|
p.Glu405GlyfsTer56
|
4.5 |
|
B | ||
| 35031 | chr17 | 65537825 | C | G |
c.1211G>C
|
p.Arg404Thr
|
- | 3.0 |
|
B | |
| 30661 | chr17 | 65538303 | G | A |
c.1100C>T
|
p.Pro367Leu
|
3.0 |
|
B | ||
| 10266 | chr17 | 65541456 | G | A |
c.1058C>T
|
p.Pro353Leu
|
4.0 |
|
B | ||
| 9208 | chr17 | 65541544 | G | A |
c.970C>T
|
p.Pro324Ser
|
- | 3.0 |
|
B | |
| 30264 | chr17 | 65549589 | C | G |
c.887G>C
|
p.Ser296Thr
|
- | 3.0 |
|
B | |
| 6713 | chr17 | 65557872 | AAGCCAACCACGGT | A |
c.736_748del
|
p.Thr246CysfsTer6
|
- | 4.0 |
|
B | |
| 32978 | chr17 | 65557882 | C | T |
c.739G>A
|
p.Val247Met
|
3.0 |
|
B | ||
| 25454 | chr17 | 65557909 | CGGCACAAGT | C |
c.703_711del
|
p.Thr235_Ala237del
|
- | 3.0 |
|
B | |
| 24508 | chr17 | 65557950 | T | TAGCC |
c.667_670dup
|
p.Tyr224TrpfsTer8
|
- | 4.0 |
|
B | |
| 30020 | chr17 | 65557963 | C | T |
c.658G>A
|
p.Val220Ile
|
2.5 |
|
B | ||
| 11721 | chr17 | 65557998 | G | A |
c.623C>T
|
p.Ala208Val
|
2.0 |
|
B | ||
| 26642 | chr17 | 65558009 | TC | T |
c.611del
|
p.Gly204GlufsTer7
|
- | 4.0 |
|
B | |
| 2704 | chr17 | 65558023 | C | CATATTCG |
c.591_597dup
|
p.Val200ArgfsTer15
|
- | 4.0 |
|
B | |
| 19114 | chr17 | 65558100 | G | A |
c.521C>T
|
p.Ala174Val
|
3.0 |
|
B | ||
| 10574 | chr17 | 65558241 | G | C |
c.380C>G
|
p.Thr127Ser
|
- | 3.0 |
|
B | |
| 19931 | chr17 | 65558280 | C | T |
c.341G>A
|
p.Cys114Tyr
|
- | 3.0 |
|
B | |
| 6541 | chr17 | 65558306 | C | T |
c.315G>A
|
p.Val105=
|
2.5 |
|
B |