Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30758 | chr16 | 68811819 | C | G |
c.968C>G
|
p.Thr323Arg
|
3.0 |
|
B | ||
| 8088 | chr16 | 68811851 | G | T |
c.1000G>T
|
p.Asp334Tyr
|
- | 3.0 |
|
B | |
| 22448 | chr16 | 68812129 | CTGCAG | C |
c.1009-5_1009-1del
|
p.?
|
- | 4.5 |
|
B | |
| 2032 | chr16 | 68812134 | G | A |
c.1009-1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 10194 | chr16 | 68812243 | C | T |
c.1117C>T
|
p.Pro373Ser
|
3.0 |
|
B | ||
| 31152 | chr16 | 68812244 | C | T |
c.1118C>T
|
p.Pro373Leu
|
2.0 |
|
B | ||
| 7230 | chr16 | 68813343 | AACGTCGTAATCACCACACTGAAAGTGACTG | A |
c.1170_1199del
|
p.Val391_Asp400del
|
- | 3.0 |
|
B | |
| 1183 | chr16 | 68813374 | A | T |
c.1199A>T
|
p.Asp400Val
|
- | 3.0 |
|
B | |
| 9929 | chr16 | 68813402 | G | T |
c.1227G>T
|
p.Trp409Cys
|
- | 3.0 |
|
B | |
| 2687 | chr16 | 68813496 | G | A |
c.1320+1G>A
|
p.?
|
- | 4.5 |
|
B | |
| 14163 | chr16 | 68813513 | C | T |
c.1320+18C>T
|
-
|
- | 2.5 |
|
B | |
| 2121 | chr16 | 68815564 | C | T |
c.1370C>T
|
p.Thr457Met
|
2.5 |
|
B | ||
| 34403 | chr16 | 68815584 | GTC | G |
c.1397_1398del
|
p.Leu466HisfsTer16
|
5.0 |
|
B | ||
| 25116 | chr16 | 68815617 | G | A |
c.1423G>A
|
p.Val475Met
|
2.5 |
|
B | ||
| 1072 | chr16 | 68815683 | G | A |
c.1489G>A
|
p.Glu497Lys
|
3.0 |
|
B | ||
| 2002 | chr16 | 68815695 | G | A |
c.1501G>A
|
p.Val501Met
|
2.5 |
|
B | ||
| 21161 | chr16 | 68815708 | T | G |
c.1514T>G
|
p.Ile505Ser
|
- | 3.0 |
|
B | |
| 25137 | chr16 | 68815749 | C | T |
c.1555C>T
|
p.Gln519Ter
|
- | 4.5 |
|
B | |
| 2033 | chr16 | 68815759 | CG | C |
c.1565+1del
|
p.?
|
4.0 |
|
B | ||
| 26911 | chr16 | 68815760 | G | A |
c.1565+1G>A
|
p.?
|
4.5 |
|
B |