Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18243 | chr16 | 89284153 | C | A |
c.2389G>T
|
p.Glu797Ter
|
- | 3.5 |
|
B | |
| 29984 | chr16 | 89284669 | C | G |
c.1873G>C
|
p.Glu625Gln
|
- | 3.0 |
|
B | |
| 22381 | chr16 | 89284690 | C | G |
c.1852G>C
|
p.Ala618Pro
|
- | 3.0 |
|
B | |
| 29986 | chr16 | 89284696 | C | G |
c.1846G>C
|
p.Glu616Gln
|
- | 3.0 |
|
B | |
| 16824 | chr16 | 89284861 | C | T |
c.1681G>A
|
p.Glu561Lys
|
- | 3.0 |
|
B | |
| 26344 | chr16 | 89285088 | G | A |
c.1454C>T
|
p.Ser485Phe
|
3.0 |
|
B | ||
| 29987 | chr16 | 89285272 | C | G |
c.1270G>C
|
p.Glu424Gln
|
- | 3.0 |
|
B | |
| 20409 | chr16 | 89286041 | G | A |
c.890C>T
|
p.Thr297Met
|
2.0 |
|
B | ||
| 29002 | chr16 | 89286129 | C | T |
c.802G>A
|
p.Glu268Lys
|
3.0 |
|
B | ||
| 11226 | chr16 | 89286145 | C | G |
c.786G>C
|
p.Gln262His
|
- | 3.0 |
|
B | |
| 24872 | chr16 | 89286162 | C | T |
c.769G>A
|
p.Gly257Arg
|
3.0 |
|
B | ||
| 35248 | chr16 | 89291086 | G | C |
c.324C>G
|
p.Gly108=
|
3.0 |
|
B | ||
| 29040 | chr16 | 89305195 | C | T |
c.226+11G>A
|
-
|
2.0 |
|
B | ||
| 2616 | chr16 | 89733951 | C | T |
-
c.1387C>T
|
-
p.Arg463Trp
|
3.0 |
|
B | ||
| 11220 | chr16 | 89737922 | A | C |
c.*679T>G
c.1574+17A>C
|
-
-
|
2.0 |
|
B | ||
| 19028 | chr16 | 89738633 | C | T |
c.4336G>A
c.*387C>T
|
p.Ala1446Thr
-
|
3.0 |
|
B | ||
| 18861 | chr16 | 89738723 | C | T |
c.4261-15G>A
c.*477C>T
|
-
-
|
- | 3.0 |
|
B | |
| 16825 | chr16 | 89738858 | C | T |
c.4260+24G>A
c.*612C>T
|
-
-
|
- | 3.0 |
|
B | |
| 2418 | chr16 | 89738940 | A | C |
c.4202T>G
c.*694A>C
|
p.Leu1401Arg
-
|
- | 3.0 |
|
B | |
| 26016 | chr16 | 89742797 | T | TG |
c.3765+2dup
-
|
-
-
|
- | 3.0 |
|
B |