Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22955 | chr19 | 4123867 | G | A |
c.9C>T
|
p.Ala3=
|
3.0 |
|
B | ||
| 7527 | chr19 | 4174947 | C | G |
-
c.739-1G>C
|
-
p.?
|
- | 3.5 |
|
B | |
| 4548 | chr19 | 4216026 | G | A |
c.1246G>A
|
p.Glu416Lys
|
- | 3.0 |
|
B | |
| 3730 | chr19 | 4219714 | C | CTCCT |
c.3127_3128insTCCT
|
p.Arg1043LeufsTer28
|
- | 3.0 |
|
B | |
| 3731 | chr19 | 4219720 | CAGGA | C |
c.3134_3137del
|
p.Gln1045ArgfsTer27
|
- | 3.0 |
|
B | |
| 3732 | chr19 | 4219733 | A | G |
c.3146A>G
|
p.Asp1049Gly
|
- | 3.0 |
|
B | |
| 12343 | chr19 | 4288373 | A | C |
c.836+11A>C
-
|
-
-
|
- | 3.0 |
|
B | |
| 4549 | chr19 | 4494431 | C | T |
c.1180C>T
|
p.Pro394Ser
|
- | 3.0 |
|
B | |
| 7205 | chr19 | 5208035 | C | T |
c.5665G>A
|
p.Val1889Ile
|
3.0 |
|
B | ||
| 25082 | chr19 | 5208040 | G | A |
c.5660C>T
|
p.Thr1887Met
|
3.0 |
|
B | ||
| 30708 | chr19 | 5210485 | T | G |
c.5471A>C
|
p.Lys1824Thr
|
- | 3.0 |
|
B | |
| 11155 | chr19 | 5210714 | C | T |
c.5326G>A
|
p.Val1776Met
|
3.0 |
|
B | ||
| 6011 | chr19 | 5210813 | C | T |
c.5235-8G>A
|
-
|
3.0 |
|
B | ||
| 30005 | chr19 | 5211633 | C | G |
c.5191G>C
|
p.Glu1731Gln
|
- | 3.0 |
|
B | |
| 24166 | chr19 | 5211642 | G | A |
c.5182C>T
|
p.Arg1728Trp
|
3.0 |
|
B | ||
| 6641 | chr19 | 5211957 | G | A |
c.5055+8C>T
|
-
|
3.0 |
|
B | ||
| 33295 | chr19 | 5212137 | C | T |
c.4883G>A
|
p.Arg1628His
|
3.0 |
|
B | ||
| 27955 | chr19 | 5212155 | G | A |
c.4865C>T
|
p.Thr1622Met
|
3.0 |
|
B | ||
| 890 | chr19 | 5212174 | C | T |
c.4846G>A
|
p.Asp1616Asn
|
- | 3.0 |
|
B | |
| 6808 | chr19 | 5212219 | C | T |
c.4801G>A
|
p.Val1601Ile
|
3.0 |
|
B |