Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21236 | chr16 | 346370 | T | G |
c.656A>C
|
p.Lys219Thr
|
3.0 |
|
B | ||
| 3065 | chr16 | 346427 | GAGGGAT | G |
c.593_598del
|
p.Tyr198_Pro199del
|
- | 3.0 |
|
B | |
| 25641 | chr16 | 346458 | G | A |
c.568C>T
|
p.Gln190Ter
|
- | 4.0 |
|
B | |
| 26931 | chr16 | 346464 | C | A |
c.562G>T
|
p.Glu188Ter
|
- | 4.0 |
|
B | |
| 29923 | chr16 | 346472 | G | T |
c.554C>A
|
p.Ala185Asp
|
- | 3.0 |
|
B | |
| 10660 | chr16 | 346554 | G | A |
c.472C>T
|
p.Arg158Trp
|
3.0 |
|
B | ||
| 33103 | chr16 | 346836 | A | G |
c.190T>C
|
p.Ser64Pro
|
- | 3.0 |
|
B | |
| 27652 | chr16 | 346889 | G | A |
c.137C>T
|
p.Ser46Phe
|
3.0 |
|
B | ||
| 33040 | chr16 | 346922 | G | C |
c.104C>G
|
p.Thr35Arg
|
- | 3.0 |
|
B | |
| 3703 | chr16 | 583221 | T | C |
c.*186T>C
|
-
|
3.0 |
|
B | ||
| 23144 | chr16 | 763294 | G | A |
c.129+18G>A
|
-
|
- | 3.0 |
|
B | |
| 20760 | chr16 | 764093 | G | C |
c.250G>C
|
p.Glu84Gln
|
- | 3.0 |
|
B | |
| 29084 | chr16 | 764939 | C | T |
c.413C>T
|
p.Thr138Ile
|
3.0 |
|
B | ||
| 33145 | chr16 | 765013 | C | G |
c.487C>G
|
p.Leu163Val
|
- | 3.0 |
|
B | |
| 14223 | chr16 | 765734 | C | T |
c.839C>T
|
p.Ser280Phe
|
3.0 |
|
B | ||
| 22632 | chr16 | 766043 | C | T |
c.896-16C>T
|
-
|
- | 3.0 |
|
B | |
| 24019 | chr16 | 768363 | C | T |
c.1597-16C>T
|
-
|
- | 3.0 |
|
B | |
| 18502 | chr16 | 768475 | C | T |
c.1693C>T
|
p.Arg565Trp
|
3.0 |
|
B | ||
| 16997 | chr16 | 768552 | C | G |
c.1770C>G
|
p.Asp590Glu
|
- | 3.0 |
|
B | |
| 13641 | chr16 | 768559 | A | G |
c.1777A>G
|
p.Met593Val
|
1.0 |
|
B |