Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26475 | chr12 | 122341488 | AG | A |
c.1715del
|
p.Ser572PhefsTer2
|
- | 3.0 |
|
B | |
| 24717 | chr12 | 122347407 | C | T |
c.1474G>A
|
p.Asp492Asn
|
- | 3.0 |
|
B | |
| 34313 | chr12 | 122355207 | G | C |
c.1111C>G
|
p.Arg371Gly
|
- | 3.0 |
|
B | |
| 34420 | chr12 | 122355210 | C | A |
c.1108G>T
|
p.Glu370Ter
|
- | 3.0 |
|
B | |
| 11625 | chr12 | 122377541 | G | C |
c.505C>G
|
p.Gln169Glu
|
- | 3.0 |
|
B | |
| 19673 | chr12 | 122377784 | C | T |
c.262G>A
|
p.Ala88Thr
|
3.0 |
|
B | ||
| 31192 | chr12 | 123826687 | G | A |
c.4180G>A
|
p.Val1394Ile
|
- | 3.0 |
|
B | |
| 15831 | chr12 | 124325472 | TG | T |
c.7474del
|
p.His2492ThrfsTer82
|
- | 4.0 |
|
B | |
| 12455 | chr12 | 124326257 | C | T |
c.7297G>A
|
p.Glu2433Lys
|
3.0 |
|
B | ||
| 18806 | chr12 | 124326378 | G | A |
c.7184-8C>T
|
-
|
- | 3.0 |
|
B | |
| 13546 | chr12 | 124330835 | G | T |
c.6958+10C>A
|
-
|
- | 3.0 |
|
B | |
| 510 | chr12 | 124330853 | G | A |
c.6950C>T
|
p.Thr2317Ile
|
3.0 |
|
B | ||
| 21764 | chr12 | 124330915 | G | C |
c.6905-17C>G
|
-
|
- | 3.0 |
|
B | |
| 21766 | chr12 | 124332416 | G | T |
c.6807C>A
|
p.Phe2269Leu
|
- | 3.5 |
|
B | |
| 1884 | chr12 | 124335513 | G | T |
c.6235C>A
|
p.Leu2079Met
|
- | 3.0 |
|
B | |
| 2958 | chr12 | 124335606 | C | T |
c.6142G>A
|
p.Glu2048Lys
|
3.0 |
|
B | ||
| 20113 | chr12 | 124335643 | CG | C |
c.6116-12del
|
-
|
- | 3.0 |
|
B | |
| 34801 | chr12 | 124336798 | G | T |
c.6070C>A
|
p.Gln2024Lys
|
- | 3.0 |
|
B | |
| 10666 | chr12 | 124336941 | G | A |
c.5927C>T
|
p.Ser1976Leu
|
3.0 |
|
B | ||
| 2550 | chr12 | 124336944 | C | T |
c.5924G>A
|
p.Gly1975Asp
|
- | 3.0 |
|
B |