Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15843 | chr17 | 58358602 | T | TG |
c.1173dup
|
p.Arg392GlnfsTer51
|
- | 4.0 |
|
B | |
| 6009 | chr17 | 58358665 | G | A |
c.1111C>T
|
p.Arg371Ter
|
4.0 |
|
B | ||
| 35200 | chr17 | 58358751 | ATGAGG | A |
c.1020_1024del
|
p.Leu341SerfsTer100
|
- | 4.0 |
|
B | |
| 11375 | chr17 | 58358767 | G | A |
c.1009C>T
|
p.Arg337Ter
|
4.0 |
|
B | ||
| 1115 | chr17 | 58358770 | CTGGTTCT | C |
c.999_1005del
|
p.Glu334ValfsTer83
|
- | 4.0 |
|
B | |
| 9509 | chr17 | 58358793 | G | A |
c.983C>T
|
p.Pro328Leu
|
3.0 |
|
B | ||
| 10064 | chr17 | 58360236 | A | C |
c.865T>G
|
p.Ser289Ala
|
- | 3.0 |
|
B | |
| 15730 | chr17 | 58360267 | G | A |
c.850-16C>T
|
-
|
3.0 |
|
B | ||
| 20690 | chr17 | 58360780 | TACCTGCCCCTCAGAGAACTCCTCCA | T |
c.827_849+2del
|
p.?
|
- | 3.5 |
|
B | |
| 35693 | chr17 | 58360863 | C | A |
c.769G>T
|
p.Gly257Cys
|
- | 3.0 |
|
B | |
| 11925 | chr17 | 58360881 | T | TG |
c.750dup
|
p.Ser251GlnfsTer8
|
- | 3.5 |
|
B | |
| 33803 | chr17 | 58360946 | T | C |
c.688-2A>G
|
p.?
|
- | 3.5 |
|
B | |
| 19137 | chr17 | 58362557 | C | CG |
c.673dup
|
p.Arg225ProfsTer34
|
3.5 |
|
B | ||
| 35694 | chr17 | 58362611 | C | T |
c.620G>A
|
p.Gly207Asp
|
- | 3.0 |
|
B | |
| 1308 | chr17 | 58362632 | C | T |
c.599G>A
|
p.Trp200Ter
|
4.5 |
|
B | ||
| 19339 | chr17 | 58363328 | A | T |
c.529T>A
|
p.Tyr177Asn
|
- | 3.0 |
|
B | |
| 2592 | chr17 | 58363352 | C | T |
c.505G>A
|
p.Ala169Thr
|
3.0 |
|
B | ||
| 31633 | chr17 | 58363363 | C | T |
c.494G>A
|
p.Trp165Ter
|
- | 3.5 |
|
B | |
| 5475 | chr17 | 58363378 | G | A |
c.479C>T
|
p.Pro160Leu
|
- | 3.0 |
|
B | |
| 7470 | chr17 | 58363407 | C | A |
c.451-1G>T
|
p.?
|
- | 4.0 |
|
B |