Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18851 | chr16 | 68815761 | TA | T |
c.1565+4del
|
-
|
- | 3.5 |
|
B | |
| 34488 | chr16 | 68819281 | T | TA |
c.1568dup
|
p.Tyr523Ter
|
- | 4.0 |
|
B | |
| 14226 | chr16 | 68822028 | C | T |
c.1739C>T
|
p.Thr580Ile
|
3.0 |
|
B | ||
| 28196 | chr16 | 68822030 | C | T |
c.1741C>T
|
p.Leu581Phe
|
3.0 |
|
B | ||
| 2022 | chr16 | 68822035 | GCTGATC | G |
c.1750_1755del
|
p.Ile584_Leu585del
|
- | 3.0 |
|
B | |
| 8522 | chr16 | 68822040 | TC | T |
c.1753del
|
p.Leu585CysfsTer4
|
- | 4.0 |
|
B | |
| 1395 | chr16 | 68822040 | TCC | T |
c.1752_1753del
|
p.Leu585ValfsTer2
|
- | 4.0 |
|
B | |
| 26661 | chr16 | 68822063 | GC | G |
c.1779del
|
p.Ile594TyrfsTer19
|
4.5 |
|
B | ||
| 10557 | chr16 | 68822186 | G | A |
c.1897G>A
|
p.Gly633Arg
|
2.5 |
|
B | ||
| 9716 | chr16 | 68822188 | G | GGC |
c.1901_1902dup
|
p.Ser635ArgfsTer19
|
- | 4.0 |
|
B | |
| 2603 | chr16 | 68822190 | C | T |
c.1901C>T
|
p.Ala634Val
|
3.5 |
|
B | ||
| 9106 | chr16 | 68823437 | G | T |
c.1975G>T
|
p.Glu659Ter
|
- | 4.0 |
|
B | |
| 6917 | chr16 | 68823454 | A | C |
c.1992A>C
|
p.Lys664Asn
|
- | 3.0 |
|
B | |
| 21255 | chr16 | 68823457 | C | CA |
c.1997dup
|
p.Asn666LysfsTer7
|
- | 4.0 |
|
B | |
| 34257 | chr16 | 68823546 | G | A |
c.2084G>A
|
p.Cys695Tyr
|
3.0 |
|
B | ||
| 14489 | chr16 | 68823546 | G | C |
c.2084G>C
|
p.Cys695Ser
|
- | 3.0 |
|
B | |
| 23932 | chr16 | 68823551 | A | T |
c.2089A>T
|
p.Lys697Ter
|
- | 4.0 |
|
B | |
| 14353 | chr16 | 68823606 | G | A |
c.2144G>A
|
p.Gly715Glu
|
3.0 |
|
B | ||
| 6404 | chr16 | 68828204 | G | T |
c.2195G>T
|
p.Arg732Leu
|
3.0 |
|
B | ||
| 13004 | chr16 | 68828252 | C | T |
c.2243C>T
|
p.Thr748Ile
|
- | 3.0 |
|
B |