Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11757 | chr16 | 58551729 | G | A |
c.3061C>T
|
p.Gln1021Ter
|
- | 3.5 |
|
B | |
| 9640 | chr16 | 58553805 | G | C |
c.2947C>G
|
p.Gln983Glu
|
- | 3.0 |
|
B | |
| 3819 | chr16 | 58553844 | G | A |
c.2908C>T
|
p.Gln970Ter
|
- | 3.0 |
|
B | |
| 27185 | chr16 | 58553846 | G | A |
c.2906C>T
|
p.Pro969Leu
|
- | 3.0 |
|
B | |
| 18808 | chr16 | 58555232 | AG | A |
c.2891+18del
|
-
|
- | 3.0 |
|
B | |
| 16381 | chr16 | 58555398 | C | G |
c.2744G>C
|
p.Cys915Ser
|
- | 3.0 |
|
B | |
| 4034 | chr16 | 58555415 | CTCTT | C |
c.2723_2726del
|
p.Lys908SerfsTer4
|
- | 3.0 |
|
B | |
| 5046 | chr16 | 58555444 | G | A |
c.2698C>T
|
p.Arg900Cys
|
3.0 |
|
B | ||
| 29760 | chr16 | 58555504 | TAG | T |
c.2636_2637del
|
p.Ser879TyrfsTer10
|
- | 3.0 |
|
B | |
| 25742 | chr16 | 58555511 | T | G |
c.2631A>C
|
p.Lys877Asn
|
- | 3.0 |
|
B | |
| 22936 | chr16 | 58555812 | G | A |
c.2576C>T
|
p.Pro859Leu
|
- | 3.0 |
|
B | |
| 35247 | chr16 | 58560318 | G | T |
c.2024C>A
|
p.Ala675Asp
|
- | 3.0 |
|
B | |
| 28877 | chr16 | 58560370 | A | C |
c.1980-8T>G
|
-
|
- | 3.0 |
|
B | |
| 28966 | chr16 | 58560381 | G | A |
c.1980-19C>T
|
-
|
3.0 |
|
B | ||
| 15751 | chr16 | 58574666 | G | C |
c.1922C>G
|
p.Ala641Gly
|
3.0 |
|
B | ||
| 13566 | chr16 | 58575047 | T | C |
c.1787A>G
|
p.Lys596Arg
|
- | 3.0 |
|
B | |
| 5930 | chr16 | 58576491 | C | T |
c.1676G>A
|
p.Arg559Gln
|
- | 3.0 |
|
B | |
| 3808 | chr16 | 58578937 | T | G |
c.1346A>C
|
p.Lys449Thr
|
- | 3.0 |
|
B | |
| 6666 | chr16 | 58581455 | G | A |
c.1105C>T
|
p.Arg369Cys
|
3.0 |
|
B | ||
| 14678 | chr16 | 58583088 | G | A |
c.901C>T
|
p.His301Tyr
|
- | 3.0 |
|
B |