Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35128 | chr4 | 54728095 | A | G |
c.1964A>G
|
p.Asn655Ser
|
3.5 |
|
B | ||
| 18952 | chr4 | 54728130 | G | A |
c.1990+9G>A
|
-
|
2.0 |
|
B | ||
| 33765 | chr4 | 54729325 | G | T |
c.1991-10G>T
|
-
|
- | 3.0 |
|
B | |
| 31601 | chr4 | 54729376 | C | T |
c.2032C>T
|
p.Leu678Phe
|
- | 3.0 |
|
B | |
| 17863 | chr4 | 54729421 | AAGC | A |
c.2080_2082del
|
p.Gln694del
|
- | 3.0 |
|
B | |
| 19056 | chr4 | 54729439 | G | T |
c.2095G>T
|
p.Glu699Ter
|
- | 3.0 |
|
B | |
| 31539 | chr4 | 54729493 | T | G |
c.2141+8T>G
|
-
|
- | 3.0 |
|
B | |
| 34171 | chr4 | 54731408 | CTGTGAGAATAGGTGAG | C |
c.2224_2233+6del
|
p.?
|
- | 3.0 |
|
B | |
| 7478 | chr4 | 54731932 | C | G |
c.2295C>G
|
p.Asp765Glu
|
- | 3.0 |
|
B | |
| 5433 | chr4 | 54731945 | C | G |
c.2308C>G
|
p.Leu770Val
|
- | 3.0 |
|
B | |
| 5064 | chr4 | 54731984 | C | T |
c.2347C>T
|
p.Leu783Phe
|
- | 3.0 |
|
B | |
| 201 | chr4 | 54733155 | A | G |
c.2447A>G
|
p.Asp816Gly
|
- | 5.0 |
|
B | |
| 200 | chr4 | 54733155 | A | T |
c.2447A>T
|
p.Asp816Val
|
5.0 |
|
B | ||
| 9830 | chr4 | 54733167 | A | G |
c.2459A>G
|
p.Asp820Gly
|
4.0 |
|
B | ||
| 23778 | chr4 | 54733172 | A | T |
c.2464A>T
|
p.Asn822Tyr
|
- | 4.0 |
|
B | |
| 203 | chr4 | 54733174 | T | A |
c.2466T>A
|
p.Asn822Lys
|
5.0 |
|
B | ||
| 202 | chr4 | 54733174 | T | G |
c.2466T>G
|
p.Asn822Lys
|
5.0 |
|
B | ||
| 7007 | chr4 | 54733175 | T | G |
c.2467T>G
|
p.Tyr823Asp
|
4.0 |
|
B | ||
| 28989 | chr4 | 54733193 | G | A |
c.2484+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 16880 | chr4 | 54736719 | A | T |
c.2597-2A>T
|
p.?
|
- | 3.0 |
|
B |