Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5885 | chr16 | 89778802 | T | C |
c.1825A>G
|
p.Arg609Gly
|
- | 4.0 |
|
B | |
| 31299 | chr16 | 89779909 | C | G |
c.1675G>C
|
p.Glu559Gln
|
3.0 |
|
B | ||
| 22567 | chr16 | 89782991 | T | A |
c.1566+16A>T
|
-
|
- | 3.0 |
|
B | |
| 33610 | chr16 | 89783015 | C | T |
c.1558G>A
|
p.Asp520Asn
|
3.0 |
|
B | ||
| 6674 | chr16 | 89783089 | T | G |
c.1484A>C
|
p.His495Pro
|
- | 3.0 |
|
B | |
| 34921 | chr16 | 89783119 | G | A |
c.1471-17C>T
|
-
|
2.0 |
|
B | ||
| 32646 | chr16 | 89784871 | A | T |
c.1453T>A
|
p.Ser485Thr
|
- | 3.0 |
|
B | |
| 4058 | chr16 | 89784911 | G | C |
c.1413C>G
|
p.Val471=
|
2.5 |
|
B | ||
| 17619 | chr16 | 89791404 | T | C |
c.1358A>G
|
p.Lys453Arg
|
3.0 |
|
B | ||
| 11866 | chr16 | 89791991 | C | G |
c.1161G>C
|
p.Gln387His
|
- | 3.0 |
|
B | |
| 2433 | chr16 | 89808289 | G | A |
c.596+5C>T
|
-
|
3.0 |
|
B | ||
| 34351 | chr16 | 89810735 | G | A |
c.494C>T
|
p.Ser165Phe
|
3.0 |
|
B | ||
| 12203 | chr16 | 89810972 | G | A |
c.383C>T
|
p.Pro128Leu
|
- | 3.0 |
|
B | |
| 8574 | chr16 | 89811057 | C | T |
c.298G>A
|
p.Asp100Asn
|
- | 3.0 |
|
B | |
| 5306 | chr16 | 89814520 | C | T |
c.283G>A
|
p.Gly95Ser
|
3.0 |
|
B | ||
| 35607 | chr16 | 89814631 | A | T |
c.190-18T>A
|
-
|
- | 3.0 |
|
B | |
| 10102 | chr16 | 89815972 | T | C |
c.94A>G
|
p.Arg32Gly
|
- | 3.0 |
|
B | |
| 16546 | chr16 | 89816581 | C | G |
c.35G>C
|
p.Gly12Ala
|
3.0 |
|
B | ||
| 5855 | chr16 | 89919673 | G | A |
-
c.415G>A
|
-
p.Ala139Thr
|
3.0 |
|
B | ||
| 6312 | chr16 | 89919740 | C | T |
-
c.482C>T
|
-
p.Ala161Val
|
3.0 |
|
B |