Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7169 | chr11 | 128916588 | G | T |
c.1117G>T
|
p.Glu373Ter
|
- | 3.0 |
|
B | |
| 13713 | chr11 | 128916623 | ACT | A |
c.1153_1154del
|
p.Leu385AlafsTer6
|
- | 3.0 |
|
B | |
| 4520 | chr11 | 128936579 | G | A |
c.212C>T
|
p.Ser71Leu
|
3.0 |
|
B | ||
| 34681 | chr11 | 129852597 | C | G |
c.115C>G
|
p.Leu39Val
|
- | 3.0 |
|
B | |
| 4521 | chr11 | 129931065 | G | T |
c.1481C>A
|
p.Thr494Asn
|
- | 3.0 |
|
B | |
| 3542 | chr11 | 130190651 | G | A |
c.832G>A
|
p.Val278Met
|
3.0 |
|
B | ||
| 3481 | chr12 | 243799 | G | A |
c.217C>T
|
p.Pro73Ser
|
- | 3.0 |
|
B | |
| 30862 | chr12 | 285620 | G | A |
c.4909C>T
|
p.His1637Tyr
|
- | 3.0 |
|
B | |
| 1285 | chr12 | 286191 | G | A |
c.4867-529C>T
|
-
|
3.0 |
|
B | ||
| 18404 | chr12 | 292902 | G | A |
c.4723C>T
|
p.Leu1575Phe
|
- | 3.0 |
|
B | |
| 13925 | chr12 | 297031 | G | A |
c.4234+10C>T
|
-
|
- | 3.0 |
|
B | |
| 24666 | chr12 | 307064 | G | A |
c.3956C>T
|
p.Ser1319Phe
|
- | 3.0 |
|
B | |
| 1202 | chr12 | 307092 | A | T |
c.3931-3T>A
|
-
|
- | 3.0 |
|
B | |
| 21324 | chr12 | 307455 | T | G |
c.3929A>C
|
p.Gln1310Pro
|
- | 3.0 |
|
B | |
| 20074 | chr12 | 307775 | C | T |
c.3609G>A
|
p.Trp1203Ter
|
- | 3.0 |
|
B | |
| 11832 | chr12 | 318380 | G | A |
c.2623C>T
|
p.Gln875Ter
|
- | 3.0 |
|
B | |
| 29587 | chr12 | 318404 | C | A |
c.2599G>T
|
p.Glu867Ter
|
- | 3.0 |
|
B | |
| 3185 | chr12 | 318438 | C | G |
c.2565G>C
|
p.Glu855Asp
|
- | 3.0 |
|
B | |
| 28836 | chr12 | 318472 | C | A |
c.2542-11G>T
|
-
|
- | 3.0 |
|
B | |
| 13855 | chr12 | 321127 | T | A |
c.2427-18A>T
|
-
|
- | 3.0 |
|
B |