Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16022 | chr12 | 50096970 | A | C |
c.1390A>C
|
p.Lys464Gln
|
- | 3.0 |
|
B | |
| 29716 | chr12 | 50098711 | C | G |
c.1393-3C>G
|
-
|
- | 3.0 |
|
B | |
| 1120 | chr12 | 50098747 | G | A |
c.1426G>A
|
p.Glu476Lys
|
- | 3.0 |
|
B | |
| 4218 | chr12 | 50098753 | C | T |
c.1432C>T
|
p.Arg478Ter
|
4.0 |
|
B | ||
| 3543 | chr12 | 50352129 | GTGAGAGGGATCTCCAATTCCTGAGCCTGCGGAGGGA | G |
c.4667_4702del
|
p.Ile1556_Leu1567del
|
3.0 |
|
B | ||
| 4122 | chr12 | 50352189 | A | G |
c.4643T>C
|
p.Val1548Ala
|
1.5 |
|
B | ||
| 4123 | chr12 | 50352213 | C | T |
c.4619G>A
|
p.Gly1540Glu
|
3.0 |
|
B | ||
| 4727 | chr12 | 50353184 | CCCCAAT | C |
c.3642_3647del
|
p.Leu1215_Gly1216del
|
- | 3.0 |
|
B | |
| 4728 | chr12 | 50353196 | AGCCTGCTGAGGGGTGAGAGAGACCCTCAGG | A |
c.3606_3635del
|
p.Leu1203_Ala1212del
|
- | 3.0 |
|
B | |
| 20100 | chr12 | 50795981 | G | T |
c.166G>T
|
p.Gly56Trp
|
3.0 |
|
B | ||
| 33701 | chr12 | 50795997 | G | A |
c.182G>A
|
p.Arg61His
|
3.0 |
|
B | ||
| 23073 | chr12 | 50809593 | T | C |
c.328+4T>C
|
-
|
1.0 |
|
B | ||
| 20101 | chr12 | 50814199 | A | T |
c.511+7A>T
|
-
|
- | 3.0 |
|
B | |
| 20533 | chr12 | 50814364 | C | T |
c.596C>T
|
p.Pro199Leu
|
- | 3.0 |
|
B | |
| 4848 | chr12 | 51190591 | A | G |
c.1492T>C
|
p.Phe498Leu
|
- | 3.0 |
|
B | |
| 20382 | chr12 | 51913269 | AG | A |
c.237del
|
p.Arg80AlafsTer42
|
3.0 |
|
B | ||
| 12746 | chr12 | 51913552 | C | T |
c.314-7C>T
|
-
|
3.0 |
|
B | ||
| 29825 | chr12 | 51913556 | C | T |
c.314-3C>T
|
-
|
- | 3.0 |
|
B | |
| 33542 | chr12 | 51913583 | C | A |
c.338C>A
|
p.Pro113Gln
|
- | 3.0 |
|
B | |
| 28725 | chr12 | 51913627 | G | A |
c.382G>A
|
p.Ala128Thr
|
3.0 |
|
B |