Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21645 | chr1 | 15876568 | A | T |
c.771A>T
|
p.Arg257Ser
|
- | 3.0 |
|
B | |
| 19259 | chr1 | 15876600 | C | T |
c.803C>T
|
p.Ser268Phe
|
- | 3.0 |
|
B | |
| 35099 | chr1 | 15909306 | G | A |
c.882-15G>A
|
-
|
- | 3.0 |
|
B | |
| 10436 | chr1 | 15911082 | GT | G |
c.1043-11del
|
-
|
3.0 |
|
B | ||
| 2973 | chr1 | 15911204 | C | G |
c.1146C>G
|
p.Phe382Leu
|
- | 3.0 |
|
B | |
| 30557 | chr1 | 15916125 | C | A |
c.1244-3C>A
|
-
|
1.0 |
|
B | ||
| 34539 | chr1 | 15919518 | G | A |
c.1635+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 6199 | chr1 | 15919523 | C | T |
c.1635+6C>T
|
-
|
1.5 |
|
B | ||
| 10437 | chr1 | 15922233 | CT | C |
c.1750-5del
|
-
|
3.0 |
|
B | ||
| 10633 | chr1 | 15928449 | C | T |
c.2209C>T
|
p.Pro737Ser
|
3.0 |
|
B | ||
| 33568 | chr1 | 15928646 | GGA | G |
c.2417_2418del
|
p.Arg806ThrfsTer14
|
4.0 |
|
B | ||
| 9109 | chr1 | 15928851 | C | CGCCTGGA |
c.2612_2618dup
|
p.Leu874ProfsTer21
|
- | 4.0 |
|
B | |
| 29272 | chr1 | 15928941 | G | A |
c.2701G>A
|
p.Ala901Thr
|
3.0 |
|
B | ||
| 7714 | chr1 | 15928995 | G | A |
c.2755G>A
|
p.Val919Ile
|
- | 3.0 |
|
B | |
| 5811 | chr1 | 15929346 | G | A |
c.3106G>A
|
p.Glu1036Lys
|
- | 3.0 |
|
B | |
| 11649 | chr1 | 15929378 | A | T |
c.3138A>T
|
p.Lys1046Asn
|
- | 3.0 |
|
B | |
| 9398 | chr1 | 15929485 | C | T |
c.3245C>T
|
p.Ser1082Leu
|
- | 3.0 |
|
B | |
| 10177 | chr1 | 15929529 | G | A |
c.3289G>A
|
p.Glu1097Lys
|
- | 3.0 |
|
B | |
| 10171 | chr1 | 15929556 | C | T |
c.3316C>T
|
p.Pro1106Ser
|
- | 3.0 |
|
B | |
| 19496 | chr1 | 15929709 | GA | G |
c.3475del
|
p.Ile1159LeufsTer28
|
- | 4.0 |
|
B |