Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3590 | chr3 | 179219673 | C | T |
c.1849C>T
|
p.Arg617Trp
|
3.0 |
|
B | ||
| 28018 | chr3 | 179219710 | C | A |
c.1886C>A
|
p.Ser629Tyr
|
- | 3.0 |
|
B | |
| 11698 | chr3 | 179221016 | G | C |
c.2046G>C
|
p.Gln682His
|
- | 3.0 |
|
B | |
| 5900 | chr3 | 179221102 | A | C |
c.2132A>C
|
p.Lys711Thr
|
- | 3.0 |
|
B | |
| 28572 | chr3 | 179221138 | AG | A |
c.2169del
|
p.Lys724ArgfsTer9
|
- | 3.0 |
|
B | |
| 1383 | chr3 | 179221146 | G | A |
c.2176G>A
|
p.Glu726Lys
|
3.5 |
|
B | ||
| 19053 | chr3 | 179224062 | A | G |
c.2188-19A>G
|
-
|
- | 2.0 |
|
B | |
| 19913 | chr3 | 179224065 | CT | C |
c.2188-7del
|
-
|
3.0 |
|
B | ||
| 42 | chr3 | 179224091 | A | G |
c.2198A>G
|
p.Lys733Arg
|
2.0 |
|
B | ||
| 1647 | chr3 | 179224115 | G | A |
c.2222G>A
|
p.Arg741Gln
|
3.0 |
|
B | ||
| 11670 | chr3 | 179224755 | G | A |
c.2350G>A
|
p.Glu784Lys
|
- | 3.0 |
|
B | |
| 19914 | chr3 | 179229345 | A | G |
c.2569A>G
|
p.Ile857Val
|
3.0 |
|
B | ||
| 28019 | chr3 | 179229458 | C | A |
c.2666+16C>A
|
-
|
- | 3.0 |
|
B | |
| 13394 | chr3 | 179230032 | C | T |
c.2695C>T
|
p.Arg899Cys
|
3.0 |
|
B | ||
| 4684 | chr3 | 179230348 | G | A |
c.2908G>A
|
p.Glu970Lys
|
- | 3.5 |
|
B | |
| 21511 | chr3 | 179234146 | C | T |
c.2989C>T
|
p.Leu997Phe
|
- | 3.0 |
|
B | |
| 9222 | chr3 | 179234167 | A | G |
c.3010A>G
|
p.Met1004Val
|
- | 3.5 |
|
B | |
| 7945 | chr3 | 179234169 | G | A |
c.3012G>A
|
p.Met1004Ile
|
- | 3.5 |
|
B | |
| 190 | chr3 | 179234230 | A | G |
c.3073A>G
|
p.Thr1025Ala
|
4.67 |
|
A | ||
| 12859 | chr3 | 179234284 | A | G |
c.3127A>G
|
p.Met1043Val
|
3.5 |
|
B |