Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28322 | chr12 | 861130 | G | GA |
c.1748dup
|
p.Gln584AlafsTer27
|
3.0 |
|
B | ||
| 19715 | chr12 | 861130 | GA | G |
c.1748del
|
p.Lys583SerfsTer11
|
2.0 |
|
B | ||
| 11045 | chr12 | 861197 | G | A |
c.1805G>A
|
p.Gly602Glu
|
3.0 |
|
B | ||
| 26771 | chr12 | 861363 | G | C |
c.1951+20G>C
|
-
|
- | 3.0 |
|
B | |
| 34152 | chr12 | 868009 | G | C |
c.2140-3256G>C
|
-
|
- | 3.0 |
|
B | |
| 15147 | chr12 | 868358 | C | G |
c.2140-2907C>G
|
-
|
- | 3.0 |
|
B | |
| 1956 | chr12 | 868420 | TGAATTTC | T |
c.2140-2844_2140-2838del
|
-
|
- | 3.0 |
|
B | |
| 1957 | chr12 | 868428 | C | A |
c.2140-2837C>A
|
-
|
- | 3.0 |
|
B | |
| 16374 | chr12 | 869008 | A | T |
c.2140-2257A>T
|
-
|
- | 3.0 |
|
B | |
| 26215 | chr12 | 869024 | T | C |
c.2140-2241T>C
|
-
|
3.0 |
|
B | ||
| 11024 | chr12 | 878279 | C | T |
c.2291C>T
|
p.Thr764Ile
|
- | 3.0 |
|
B | |
| 6228 | chr12 | 878314 | C | G |
c.2326C>G
|
p.Gln776Glu
|
- | 3.0 |
|
B | |
| 32522 | chr12 | 879634 | AACCCTCGGTTGTTCCAGTCC | A |
c.2438_2457del
|
p.Pro813LeufsTer75
|
- | 3.0 |
|
B | |
| 9205 | chr12 | 879996 | G | C |
c.2797G>C
|
p.Glu933Gln
|
- | 3.0 |
|
B | |
| 33502 | chr12 | 880739 | C | T |
c.2851C>T
|
p.Pro951Ser
|
3.0 |
|
B | ||
| 5439 | chr12 | 881747 | C | T |
c.3167C>T
|
p.Thr1056Ile
|
- | 3.0 |
|
B | |
| 12930 | chr12 | 881903 | T | A |
c.3210-8T>A
|
-
|
- | 3.0 |
|
B | |
| 25576 | chr12 | 881942 | G | A |
c.3241G>A
|
p.Asp1081Asn
|
- | 3.0 |
|
B | |
| 31586 | chr12 | 882038 | G | A |
c.3337G>A
|
p.Glu1113Lys
|
- | 3.0 |
|
B | |
| 5834 | chr12 | 882054 | C | T |
c.3353C>T
|
p.Pro1118Leu
|
- | 3.0 |
|
B |