Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28728 | chr16 | 89742847 | C | G |
c.3718G>C
-
|
p.Glu1240Gln
-
|
3.0 |
|
B | ||
| 30395 | chr16 | 89742947 | G | C |
c.3627-9C>G
-
|
-
-
|
2.0 |
|
B | ||
| 19029 | chr16 | 89746702 | C | T |
c.3409-14G>A
|
-
|
2.0 |
|
B | ||
| 463 | chr16 | 89746848 | T | C |
c.3391A>G
|
p.Thr1131Ala
|
3.71 |
|
S | ||
| 21197 | chr16 | 89746884 | A | C |
c.3355T>G
|
p.Phe1119Val
|
- | 3.0 |
|
B | |
| 30705 | chr16 | 89748662 | C | G |
c.3345G>C
|
p.Glu1115Asp
|
- | 3.0 |
|
B | |
| 21126 | chr16 | 89749873 | T | G |
c.3096A>C
|
p.Gln1032His
|
3.0 |
|
B | ||
| 8725 | chr16 | 89749904 | T | A |
c.3067-2A>T
|
p.?
|
- | 4.0 |
|
B | |
| 5280 | chr16 | 89764940 | G | A |
c.2728C>T
|
p.Leu910Phe
|
3.0 |
|
B | ||
| 29834 | chr16 | 89764956 | C | G |
c.2712G>C
|
p.Gln904His
|
3.0 |
|
B | ||
| 20819 | chr16 | 89764989 | C | T |
c.2679G>A
|
p.Trp893Ter
|
- | 4.0 |
|
B | |
| 4990 | chr16 | 89765069 | G | A |
c.2602-3C>T
|
-
|
- | 4.0 |
|
B | |
| 10386 | chr16 | 89767209 | G | C |
c.2533C>G
|
p.Leu845Val
|
- | 3.0 |
|
B | |
| 13028 | chr16 | 89769829 | G | A |
c.2504+8C>T
|
-
|
3.0 |
|
B | ||
| 17381 | chr16 | 89770157 | G | A |
c.2316+9C>T
|
-
|
2.5 |
|
B | ||
| 12012 | chr16 | 89770615 | G | A |
c.2171C>T
|
p.Thr724Met
|
2.5 |
|
B | ||
| 10837 | chr16 | 89773270 | C | G |
c.2014+1G>C
|
p.?
|
3.5 |
|
B | ||
| 2528 | chr16 | 89773276 | C | A |
c.2009G>T
|
p.Arg670Leu
|
- | 3.0 |
|
B | |
| 6086 | chr16 | 89773313 | C | T |
c.1972G>A
|
p.Gly658Arg
|
- | 3.0 |
|
B | |
| 1380 | chr16 | 89778802 | T | A |
c.1825A>T
|
p.Arg609Ter
|
- | 4.5 |
|
B |