Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33052 | chr12 | 58914067 | C | CA |
c.309-12dup
|
-
|
3.0 |
|
B | ||
| 19667 | chr12 | 58914067 | CA | C |
c.309-12del
|
-
|
3.0 |
|
B | ||
| 30645 | chr12 | 58919986 | G | A |
c.236+14C>T
|
-
|
3.0 |
|
B | ||
| 13638 | chr12 | 58920133 | G | A |
c.103C>T
|
p.Leu35Phe
|
3.0 |
|
B | ||
| 4729 | chr12 | 63802216 | A | T |
c.554A>T
|
p.Gln185Leu
|
- | 3.0 |
|
B | |
| 4730 | chr12 | 63802223 | A | T |
c.561A>T
|
p.Leu187Phe
|
- | 3.0 |
|
B | |
| 19721 | chr12 | 64418974 | GT | G |
c.378del
|
p.Phe126LeufsTer6
|
3.0 |
|
B | ||
| 28998 | chr12 | 65056132 | A | T |
c.827-6T>A
|
-
|
- | 3.0 |
|
B | |
| 27264 | chr12 | 65062528 | C | T |
c.779G>A
|
p.Gly260Glu
|
- | 3.0 |
|
B | |
| 32383 | chr12 | 65067679 | C | T |
c.634+16G>A
|
-
|
3.0 |
|
B | ||
| 34620 | chr12 | 65068873 | T | G |
c.429A>C
|
p.Lys143Asn
|
- | 3.0 |
|
B | |
| 31919 | chr12 | 65077738 | C | A |
c.397+8G>T
|
-
|
- | 3.0 |
|
B | |
| 15520 | chr12 | 65077829 | G | C |
c.314C>G
|
p.Ser105Cys
|
- | 3.0 |
|
B | |
| 15358 | chr12 | 65120412 | C | T |
c.288+5G>A
|
-
|
- | 3.0 |
|
B | |
| 27356 | chr12 | 65825316 | C | CA |
c.47dup
|
p.Gln18ThrfsTer25
|
- | 3.5 |
|
B | |
| 21658 | chr12 | 65828041 | G | C |
c.152G>C
|
p.Arg51Thr
|
- | 3.0 |
|
B | |
| 25769 | chr12 | 65838500 | CTTCCTTTTTCAT | C |
c.199-16_199-5del
|
-
|
- | 3.0 |
|
B | |
| 31785 | chr12 | 65842584 | T | A |
c.249+4015T>A
|
-
|
- | 3.0 |
|
B | |
| 16017 | chr12 | 65881725 | G | T |
c.249+43156G>T
|
-
|
3.0 |
|
B | ||
| 27385 | chr12 | 65881758 | A | T |
c.249+43189A>T
|
-
|
3.0 |
|
B |