Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10409 | chr4 | 20618926 | T | C |
c.4507T>C
|
p.Ser1503Pro
|
3.0 |
|
B | ||
| 21651 | chr4 | 20618944 | G | A |
c.4525G>A
|
p.Gly1509Ser
|
3.0 |
|
B | ||
| 19988 | chr4 | 24540123 | TAATA | T |
c.1767_1770del
|
p.Ile590LeufsTer25
|
- | 3.5 |
|
B | |
| 26176 | chr4 | 24540903 | C | T |
c.1531G>A
|
p.Val511Met
|
- | 3.0 |
|
B | |
| 16513 | chr4 | 24541994 | G | A |
c.1364C>T
|
p.Ser455Phe
|
- | 3.0 |
|
B | |
| 34805 | chr4 | 24548950 | T | C |
c.1153A>G
|
p.Ile385Val
|
- | 3.0 |
|
B | |
| 17130 | chr4 | 24554919 | C | A |
c.886G>T
|
p.Asp296Tyr
|
- | 3.0 |
|
B | |
| 33149 | chr4 | 24554925 | T | C |
c.880A>G
|
p.Thr294Ala
|
- | 3.0 |
|
B | |
| 34890 | chr4 | 24576349 | C | T |
c.401G>A
|
p.Arg134His
|
- | 3.0 |
|
B | |
| 33420 | chr4 | 24576550 | G | C |
c.200C>G
|
p.Ala67Gly
|
- | 3.0 |
|
B | |
| 30224 | chr4 | 25662559 | G | A |
c.59G>A
|
p.Gly20Glu
|
- | 3.0 |
|
B | |
| 33237 | chr4 | 25662600 | G | A |
c.100G>A
|
p.Glu34Lys
|
3.0 |
|
B | ||
| 34058 | chr4 | 25662625 | C | T |
c.112+13C>T
|
-
|
3.0 |
|
B | ||
| 13538 | chr4 | 25662825 | C | T |
c.233C>T
|
p.Ser78Leu
|
3.0 |
|
B | ||
| 30596 | chr4 | 25662851 | G | T |
c.250+9G>T
|
-
|
- | 2.0 |
|
B | |
| 27398 | chr4 | 25664339 | G | A |
c.379+9G>A
|
-
|
- | 3.0 |
|
B | |
| 26960 | chr4 | 25667891 | C | T |
c.535C>T
|
p.Arg179Trp
|
3.0 |
|
B | ||
| 16186 | chr4 | 25667960 | A | T |
c.604A>T
|
p.Met202Leu
|
- | 3.0 |
|
B | |
| 34110 | chr4 | 25673111 | A | G |
c.1073A>G
|
p.His358Arg
|
- | 3.0 |
|
B | |
| 12672 | chr4 | 25674424 | C | T |
c.1333+12C>T
|
-
|
- | 3.5 |
|
B |