Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15556 | chr19 | 15167271 | C | T |
c.5340G>A
|
p.Met1780Ile
|
- | 3.0 |
|
B | |
| 35062 | chr19 | 15167291 | C | A |
c.5320G>T
|
p.Asp1774Tyr
|
- | 3.0 |
|
B | |
| 25858 | chr19 | 15167318 | C | G |
c.5293G>C
|
p.Ala1765Pro
|
- | 3.0 |
|
B | |
| 10119 | chr19 | 15167368 | C | T |
c.5243G>A
|
p.Arg1748His
|
3.0 |
|
B | ||
| 33779 | chr19 | 15167428 | C | T |
c.5200-17G>A
|
-
|
- | 3.0 |
|
B | |
| 32135 | chr19 | 15170123 | C | T |
c.5162G>A
|
p.Trp1721Ter
|
- | 3.5 |
|
B | |
| 14813 | chr19 | 15170184 | G | A |
c.5115-14C>T
|
-
|
- | 3.0 |
|
B | |
| 7134 | chr19 | 15170499 | G | A |
c.4946C>T
|
p.Ala1649Val
|
3.0 |
|
B | ||
| 13010 | chr19 | 15170551 | C | T |
c.4894G>A
|
p.Glu1632Lys
|
- | 3.0 |
|
B | |
| 22636 | chr19 | 15170666 | C | T |
c.4891+5G>A
|
-
|
3.0 |
|
B | ||
| 18372 | chr19 | 15170743 | C | T |
c.4819G>A
|
p.Ala1607Thr
|
- | 3.0 |
|
B | |
| 24167 | chr19 | 15170783 | C | A |
c.4779G>T
|
p.Gln1593His
|
- | 3.0 |
|
B | |
| 3229 | chr19 | 15174108 | C | G |
c.4696G>C
|
p.Glu1566Gln
|
- | 3.0 |
|
B | |
| 4933 | chr19 | 15174141 | C | T |
c.4663G>A
|
p.Val1555Ile
|
- | 3.0 |
|
B | |
| 8276 | chr19 | 15174174 | G | A |
c.4630C>T
|
p.Arg1544Cys
|
- | 3.0 |
|
B | |
| 7881 | chr19 | 15174178 | C | T |
c.4626G>A
|
p.Ser1542=
|
3.0 |
|
B | ||
| 17946 | chr19 | 15174240 | C | T |
c.4564G>A
|
p.Glu1522Lys
|
- | 3.0 |
|
B | |
| 20170 | chr19 | 15174248 | A | G |
c.4556T>C
|
p.Leu1519Pro
|
4.0 |
|
B | ||
| 10779 | chr19 | 15174319 | C | G |
c.4485G>C
|
p.Trp1495Cys
|
- | 3.0 |
|
B | |
| 4137 | chr19 | 15174408 | G | A |
c.4404-8C>T
|
-
|
3.0 |
|
B |