Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29726 | chr16 | 58583141 | C | T |
c.848G>A
|
p.Arg283Gln
|
3.0 |
|
B | ||
| 5538 | chr16 | 58585496 | T | G |
c.648A>C
|
p.Gln216His
|
- | 3.0 |
|
B | |
| 28921 | chr16 | 58585516 | G | A |
c.638-10C>T
|
-
|
- | 3.0 |
|
B | |
| 24953 | chr16 | 58586569 | C | T |
c.613G>A
|
p.Ala205Thr
|
3.0 |
|
B | ||
| 1575 | chr16 | 58586629 | G | A |
c.553C>T
|
p.Leu185Phe
|
- | 3.0 |
|
B | |
| 12540 | chr16 | 58586643 | A | AC |
c.538dup
|
p.Val180GlyfsTer29
|
- | 3.0 |
|
B | |
| 21160 | chr16 | 58586677 | G | A |
c.505C>T
|
p.Gln169Ter
|
- | 3.0 |
|
B | |
| 27952 | chr16 | 58586760 | G | T |
c.434-12C>A
|
-
|
- | 3.0 |
|
B | |
| 8567 | chr16 | 58587201 | C | T |
c.433G>A
|
p.Ala145Thr
|
- | 3.0 |
|
B | |
| 7996 | chr16 | 58599235 | C | A |
c.102+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 30788 | chr16 | 58599324 | G | A |
c.14C>T
|
p.Ser5Leu
|
3.0 |
|
B | ||
| 12757 | chr16 | 64947611 | C | A |
c.2383G>T
|
p.Asp795Tyr
|
3.0 |
|
B | ||
| 11717 | chr16 | 64947618 | A | C |
c.2376T>G
|
p.Phe792Leu
|
- | 3.0 |
|
B | |
| 17590 | chr16 | 64947724 | G | A |
c.2270C>T
|
p.Ser757Phe
|
- | 3.0 |
|
B | |
| 27884 | chr16 | 64947919 | G | A |
c.2075C>T
|
p.Pro692Leu
|
- | 3.0 |
|
B | |
| 30440 | chr16 | 64948107 | G | A |
c.1895-8C>T
|
-
|
3.0 |
|
B | ||
| 13652 | chr16 | 64948112 | A | G |
c.1895-13T>C
|
-
|
- | 3.5 |
|
B | |
| 16352 | chr16 | 64948597 | G | A |
c.1895-498C>T
|
-
|
3.0 |
|
B | ||
| 16347 | chr16 | 64948598 | G | A |
c.1895-499C>T
|
-
|
3.0 |
|
B | ||
| 19694 | chr16 | 64948610 | G | A |
c.1895-511C>T
|
-
|
3.0 |
|
B |