Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25602 | chr3 | 179234285 | T | C |
c.3128T>C
|
p.Met1043Thr
|
4.5 |
|
B | ||
| 2220 | chr3 | 179234286 | G | A |
c.3129G>A
|
p.Met1043Ile
|
3.5 |
|
B | ||
| 191 | chr3 | 179234286 | G | C |
c.3129G>C
|
p.Met1043Ile
|
- | 4.33 |
|
A | |
| 192 | chr3 | 179234286 | G | T |
c.3129G>T
|
p.Met1043Ile
|
4.33 |
|
A | ||
| 31565 | chr3 | 179234288 | A | C |
c.3131A>C
|
p.Asn1044Thr
|
- | 3.0 |
|
B | |
| 17951 | chr3 | 179234288 | A | G |
c.3131A>G
|
p.Asn1044Ser
|
3.5 |
|
B | ||
| 8964 | chr3 | 179234289 | T | A |
c.3132T>A
|
p.Asn1044Lys
|
3.0 |
|
B | ||
| 193 | chr3 | 179234296 | C | T |
c.3139C>T
|
p.His1047Tyr
|
4.67 |
|
A | ||
| 39 | chr3 | 179234297 | A | G |
c.3140A>G
|
p.His1047Arg
|
4.25 |
|
S | ||
| 194 | chr3 | 179234297 | A | T |
c.3140A>T
|
p.His1047Leu
|
4.33 |
|
A | ||
| 40 | chr3 | 179234298 | T | G |
c.3141T>G
|
p.His1047Gln
|
4.0 |
|
B | ||
| 7851 | chr3 | 179234302 | G | C |
c.3145G>C
|
p.Gly1049Arg
|
3.5 |
|
B | ||
| 6745 | chr3 | 179234329 | A | T |
c.3172A>T
|
p.Ile1058Phe
|
- | 3.0 |
|
B | |
| 41 | chr3 | 179234350 | C | T |
c.3193C>T
|
p.His1065Tyr
|
- | 3.0 |
|
B | |
| 35579 | chr3 | 179234351 | A | T |
c.3194A>T
|
p.His1065Leu
|
3.0 |
|
B | ||
| 26900 | chr3 | 179234361 | C | CTTTT |
c.3205_3206insTTTT
|
p.Ter1069PhefsTer5
|
- | 3.0 |
|
B | |
| 24121 | chr3 | 179240073 | TA | T |
c.*5720del
-
|
-
-
|
3.0 |
|
B | ||
| 19427 | chr3 | 180609619 | GT | G |
-
c.1401-3del
|
-
-
|
3.0 |
|
B | ||
| 19428 | chr3 | 180948439 | CA | C |
c.371del
|
p.Asn124IlefsTer14
|
3.0 |
|
B | ||
| 6429 | chr3 | 181712395 | C | T |
c.35C>T
|
p.Pro12Leu
|
3.0 |
|
B |