Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3960 | chr5 | 112843192 | C | G |
c.7598C>G
|
p.Ser2533Cys
|
3.0 |
|
B | ||
| 20881 | chr5 | 112843212 | C | T |
c.7618C>T
|
p.Pro2540Ser
|
- | 3.0 |
|
B | |
| 503 | chr5 | 112843239 | C | T |
c.7645C>T
|
p.Arg2549Cys
|
2.5 |
|
B | ||
| 20996 | chr5 | 112843266 | C | T |
c.7672C>T
|
p.Leu2558Phe
|
3.0 |
|
B | ||
| 28694 | chr5 | 112843333 | C | T |
c.7739C>T
|
p.Ser2580Phe
|
3.0 |
|
B | ||
| 21953 | chr5 | 112843351 | G | T |
c.7757G>T
|
p.Ser2586Ile
|
3.0 |
|
B | ||
| 3961 | chr5 | 112843407 | C | G |
c.7813C>G
|
p.Gln2605Glu
|
2.5 |
|
B | ||
| 31401 | chr5 | 112843416 | G | A |
c.7822G>A
|
p.Ala2608Thr
|
2.5 |
|
B | ||
| 35318 | chr5 | 112843543 | C | T |
c.7949C>T
|
p.Ala2650Val
|
- | 3.0 |
|
B | |
| 3540 | chr5 | 112843555 | CAG | C |
c.7964_7965del
|
p.Glu2655GlyfsTer7
|
- | 4.0 |
|
B | |
| 22137 | chr5 | 112843735 | G | A |
c.8141G>A
|
p.Arg2714His
|
2.5 |
|
B | ||
| 3962 | chr5 | 112843909 | C | T |
c.8315C>T
|
p.Ser2772Leu
|
- | 3.0 |
|
B | |
| 293 | chr5 | 112844079 | C | T |
c.8485C>T
|
p.Gln2829Ter
|
- | 4.33 |
|
A | |
| 3963 | chr5 | 112844109 | C | G |
c.8515C>G
|
p.Leu2839Val
|
- | 3.0 |
|
B | |
| 7413 | chr5 | 112844125 | A | C |
c.8531A>C
|
p.Ter2844SerextTer27
|
- | 3.0 |
|
B | |
| 34683 | chr5 | 113340551 | C | T |
c.595G>A
|
p.Val199Ile
|
3.0 |
|
B | ||
| 4667 | chr5 | 113532882 | C | T |
c.679C>T
|
p.Pro227Ser
|
3.0 |
|
B | ||
| 16896 | chr5 | 122391156 | G | C |
c.22G>C
|
p.Asp8His
|
- | 3.0 |
|
B | |
| 17274 | chr5 | 122401043 | G | A |
c.58-2750G>A
|
-
|
- | 3.0 |
|
B | |
| 7641 | chr5 | 122401091 | G | A |
c.58-2702G>A
|
-
|
3.0 |
|
B |