Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20614 | chr12 | 57091328 | TCCGG | T |
-
c.289_292del
|
-
p.Arg97AlafsTer6
|
- | 4.0 |
|
B | |
| 29593 | chr12 | 57091508 | G | A |
-
c.467G>A
|
-
p.Arg156His
|
3.0 |
|
B | ||
| 13253 | chr12 | 57091560 | G | T |
-
c.519G>T
|
-
p.Leu173=
|
- | 3.0 |
|
B | |
| 31869 | chr12 | 57091666 | TC | T |
-
c.632del
|
-
p.Pro211LeufsTer58
|
- | 4.0 |
|
B | |
| 20110 | chr12 | 57091996 | G | A |
-
c.955G>A
|
-
p.Glu319Lys
|
3.0 |
|
B | ||
| 22204 | chr12 | 57092545 | G | A |
-
c.1055G>A
|
-
p.Arg352Gln
|
- | 3.0 |
|
B | |
| 15148 | chr12 | 57092572 | A | G |
-
c.1082A>G
|
-
p.Lys361Arg
|
- | 3.0 |
|
B | |
| 31392 | chr12 | 57093412 | G | A |
-
c.1282G>A
|
-
p.Gly428Arg
|
3.0 |
|
B | ||
| 13510 | chr12 | 57093413 | G | T |
-
c.1283G>T
|
-
p.Gly428Val
|
- | 3.0 |
|
B | |
| 22558 | chr12 | 57093547 | G | A |
-
c.1417G>A
|
-
p.Asp473Asn
|
3.0 |
|
B | ||
| 33231 | chr12 | 57098607 | G | A |
c.2067-10C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 24915 | chr12 | 57099293 | C | A |
c.1891+1G>T
-
|
p.?
-
|
- | 3.5 |
|
B | |
| 35282 | chr12 | 57099805 | C | T |
c.1706G>A
-
|
p.Gly569Glu
-
|
- | 3.0 |
|
B | |
| 33954 | chr12 | 57099921 | G | A |
c.1608-18C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 16016 | chr12 | 57100092 | T | G |
c.1513-2A>C
-
|
p.?
-
|
- | 3.5 |
|
B | |
| 12289 | chr12 | 57100853 | G | A |
c.1513-763C>T
|
-
|
3.0 |
|
B | ||
| 21865 | chr12 | 57102443 | TTCACACATCTTC | T |
c.1347_1358del
|
p.Lys450_Glu453del
|
- | 3.0 |
|
B | |
| 32616 | chr12 | 57102870 | C | T |
c.1264G>A
|
p.Ala422Thr
|
- | 3.0 |
|
B | |
| 12288 | chr12 | 57104532 | C | T |
c.1144G>A
|
p.Glu382Lys
|
- | 3.0 |
|
B | |
| 33023 | chr12 | 57104603 | G | T |
c.1090-17C>A
|
-
|
3.0 |
|
B |