Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27163 | chr12 | 40257229 | A | G |
c.1289-19A>G
|
-
|
- | 3.0 |
|
B | |
| 11512 | chr12 | 40257250 | A | C |
c.1291A>C
|
p.Asn431His
|
- | 3.0 |
|
B | |
| 34292 | chr12 | 40257262 | A | T |
c.1303A>T
|
p.Ile435Leu
|
- | 3.0 |
|
B | |
| 22361 | chr12 | 40257278 | G | A |
c.1319G>A
|
p.Gly440Glu
|
- | 3.0 |
|
B | |
| 5483 | chr12 | 40257304 | A | T |
c.1345A>T
|
p.Met449Leu
|
- | 3.0 |
|
B | |
| 8055 | chr12 | 40257356 | T | G |
c.1397T>G
|
p.Leu466Arg
|
- | 3.0 |
|
B | |
| 8409 | chr12 | 40257365 | T | C |
c.1406T>C
|
p.Leu469Pro
|
- | 3.0 |
|
B | |
| 4212 | chr12 | 40259551 | C | T |
c.1490C>T
|
p.Ser497Leu
|
3.0 |
|
B | ||
| 6037 | chr12 | 40259575 | T | G |
c.1514T>G
|
p.Leu505Arg
|
- | 3.0 |
|
B | |
| 4932 | chr12 | 40263800 | G | A |
c.1555G>A
|
p.Glu519Lys
|
- | 3.0 |
|
B | |
| 2314 | chr12 | 40274637 | G | T |
c.1711G>T
|
p.Val571Leu
|
3.0 |
|
B | ||
| 9650 | chr12 | 40274668 | C | T |
c.1742C>T
|
p.Ser581Phe
|
3.0 |
|
B | ||
| 19662 | chr12 | 40274834 | CT | C |
c.1802-11del
|
-
|
2.0 |
|
B | ||
| 34209 | chr12 | 40274967 | A | G |
c.1915A>G
|
p.Lys639Glu
|
- | 3.0 |
|
B | |
| 22627 | chr12 | 40277955 | C | T |
c.2009C>T
|
p.Ser670Leu
|
- | 3.0 |
|
B | |
| 13194 | chr12 | 40277960 | G | A |
c.2014G>A
|
p.Asp672Asn
|
3.0 |
|
B | ||
| 34226 | chr12 | 40278031 | A | C |
c.2070+15A>C
|
-
|
- | 3.0 |
|
B | |
| 6303 | chr12 | 40278185 | G | T |
c.2165G>T
|
p.Ser722Ile
|
- | 3.0 |
|
B | |
| 20378 | chr12 | 40283960 | C | T |
c.2327C>T
|
p.Thr776Met
|
3.0 |
|
B | ||
| 10729 | chr12 | 40284088 | G | A |
c.2455G>A
|
p.Gly819Ser
|
3.0 |
|
B |