Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27798 | chr17 | 7673559 | CAGTGG | C |
c.964_968del
|
p.Pro322GlyfsTer13
|
- | 4.0 |
|
B | |
| 8274 | chr17 | 7673578 | TGG | T |
c.948_949del
|
p.Gln317AlafsTer19
|
- | 4.0 |
|
B | |
| 2876 | chr17 | 7673579 | G | A |
c.949C>T
|
p.Gln317Ter
|
4.5 |
|
B | ||
| 10454 | chr17 | 7673580 | GGGAGAGGA | G |
c.940_947del
|
p.Ser314ProfsTer20
|
- | 4.0 |
|
B | |
| 2023 | chr17 | 7673582 | G | GA |
c.945dup
|
p.Pro316SerfsTer21
|
- | 3.5 |
|
B | |
| 22106 | chr17 | 7673600 | TG | T |
c.927del
|
p.Asn310ThrfsTer35
|
3.5 |
|
B | ||
| 15039 | chr17 | 7673609 | C | G |
c.920-1G>C
|
p.?
|
4.5 |
|
B | ||
| 9730 | chr17 | 7673609 | C | T |
c.920-1G>A
|
p.?
|
4.5 |
|
B | ||
| 10292 | chr17 | 7673610 | T | A |
c.920-2A>T
|
p.?
|
- | 4.0 |
|
B | |
| 7879 | chr17 | 7673610 | T | C |
c.920-2A>G
|
p.?
|
4.5 |
|
B | ||
| 14291 | chr17 | 7673610 | TAGGAAAGAGGCA | T |
c.920-14_920-3del
|
-
|
3.0 |
|
B | ||
| 7773 | chr17 | 7673615 | AAGAGGCAAGGAAAGGTGATAAAAGTG | A |
c.920-33_920-8del
|
-
|
- | 3.5 |
|
B | |
| 8470 | chr17 | 7673699 | A | C |
c.919+2T>G
|
p.?
|
5.0 |
|
B | ||
| 3377 | chr17 | 7673699 | A | T |
c.919+2T>A
|
p.?
|
4.0 |
|
B | ||
| 11076 | chr17 | 7673700 | C | A |
c.919+1G>T
|
p.?
|
4.0 |
|
B | ||
| 1125 | chr17 | 7673700 | C | T |
c.919+1G>A
|
p.?
|
4.5 |
|
B | ||
| 2778 | chr17 | 7673704 | G | A |
c.916C>T
|
p.Arg306Ter
|
4.0 |
|
B | ||
| 13097 | chr17 | 7673717 | TG | T |
c.902del
|
p.Pro301GlnfsTer44
|
4.5 |
|
B | ||
| 7071 | chr17 | 7673722 | GC | G |
c.897del
|
p.Pro301GlnfsTer44
|
- | 4.5 |
|
B | |
| 2555 | chr17 | 7673723 | C | CA |
c.896dup
|
p.Pro300AlafsTer6
|
- | 4.0 |
|
B |