Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21544 | chr16 | 2072921 | G | A |
c.2293G>A
|
p.Ala765Thr
|
- | 3.5 |
|
B | |
| 14969 | chr16 | 2074264 | C | T |
c.2420C>T
|
p.Ala807Val
|
- | 3.0 |
|
B | |
| 29569 | chr16 | 2074396 | C | T |
c.2545+7C>T
|
-
|
2.0 |
|
B | ||
| 17376 | chr16 | 2075787 | C | T |
c.2546-12C>T
|
-
|
1.0 |
|
B | ||
| 11059 | chr16 | 2075897 | G | C |
c.2639+5G>C
|
-
|
- | 3.5 |
|
B | |
| 14679 | chr16 | 2076516 | C | T |
c.2768C>T
|
p.Ser923Phe
|
3.0 |
|
B | ||
| 6738 | chr16 | 2076527 | AC | A |
c.2784del
|
p.Glu929ArgfsTer19
|
4.0 |
|
B | ||
| 9034 | chr16 | 2076531 | C | T |
c.2783C>T
|
p.Pro928Leu
|
- | 3.0 |
|
B | |
| 6716 | chr16 | 2076551 | G | A |
c.2803G>A
|
p.Ala935Thr
|
3.0 |
|
B | ||
| 7834 | chr16 | 2077662 | G | C |
c.2902G>C
|
p.Glu968Gln
|
- | 3.0 |
|
B | |
| 5914 | chr16 | 2077677 | G | A |
c.2917G>A
|
p.Glu973Lys
|
2.5 |
|
B | ||
| 12321 | chr16 | 2079128 | GCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCT | G |
c.3065_3107del
|
p.Leu1022ProfsTer17
|
- | 4.0 |
|
B | |
| 26463 | chr16 | 2079376 | C | T |
c.3232C>T
|
p.Arg1078Trp
|
2.0 |
|
B | ||
| 23256 | chr16 | 2079567 | G | A |
c.3295G>A
|
p.Gly1099Arg
|
2.0 |
|
B | ||
| 5838 | chr16 | 2079651 | C | T |
c.3379C>T
|
p.Arg1127Trp
|
2.0 |
|
B | ||
| 19927 | chr16 | 2080299 | CAGG | C |
c.3535_3537del
|
p.Glu1179del
|
3.0 |
|
B | ||
| 18466 | chr16 | 2080308 | A | G |
c.3541A>G
|
p.Thr1181Ala
|
- | 3.0 |
|
B | |
| 35352 | chr16 | 2081623 | G | T |
c.3639G>T
|
p.Glu1213Asp
|
- | 3.0 |
|
B | |
| 29103 | chr16 | 2081647 | G | A |
c.3663G>A
|
p.Ser1221=
|
2.0 |
|
B | ||
| 34918 | chr16 | 2081702 | C | T |
c.3718C>T
|
p.Arg1240Cys
|
2.5 |
|
B |