Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29414 | chr1 | 156874635 | G | A |
c.1251+9G>A
|
-
|
- | 3.0 |
|
B | |
| 15156 | chr1 | 156875569 | C | G |
c.1404C>G
|
p.Phe468Leu
|
3.0 |
|
B | ||
| 7345 | chr1 | 156875645 | C | A |
c.1480C>A
|
p.Pro494Thr
|
3.0 |
|
B | ||
| 5647 | chr1 | 156875645 | C | T |
c.1480C>T
|
p.Pro494Ser
|
- | 3.0 |
|
B | |
| 5386 | chr1 | 156875656 | C | A |
c.1491C>A
|
p.Phe497Leu
|
- | 3.0 |
|
B | |
| 17082 | chr1 | 156875658 | G | T |
c.1493G>T
|
p.Ser498Ile
|
- | 3.0 |
|
B | |
| 16056 | chr1 | 156876499 | G | A |
c.1732G>A
|
p.Val578Ile
|
3.0 |
|
B | ||
| 32300 | chr1 | 156876517 | C | G |
c.1750C>G
|
p.Pro584Ala
|
- | 3.0 |
|
B | |
| 5951 | chr1 | 156879169 | C | G |
c.1853C>G
|
p.Ala618Gly
|
- | 3.0 |
|
B | |
| 25549 | chr1 | 156879277 | G | A |
c.1961G>A
|
p.Arg654His
|
3.5 |
|
B | ||
| 10273 | chr1 | 156879306 | G | A |
c.1990G>A
|
p.Val664Ile
|
- | 3.0 |
|
B | |
| 26376 | chr1 | 156879330 | A | C |
c.2014A>C
|
p.Ser672Arg
|
- | 3.0 |
|
B | |
| 16566 | chr1 | 156879336 | G | A |
c.2020G>A
|
p.Asp674Asn
|
- | 3.0 |
|
B | |
| 1281 | chr1 | 156879997 | A | G |
c.2047-2A>G
|
p.?
|
- | 3.0 |
|
B | |
| 7011 | chr1 | 156880016 | G | A |
c.2064G>A
|
p.Met688Ile
|
- | 3.0 |
|
B | |
| 2128 | chr1 | 156880059 | A | G |
c.2107A>G
|
p.Lys703Glu
|
- | 3.0 |
|
B | |
| 1207 | chr1 | 156880122 | G | A |
c.2170G>A
|
p.Gly724Ser
|
3.5 |
|
B | ||
| 29540 | chr1 | 156880137 | T | A |
c.2185T>A
|
p.Tyr729Asn
|
- | 3.0 |
|
B | |
| 23687 | chr1 | 156881496 | C | T |
c.2245C>T
|
p.Pro749Ser
|
- | 3.0 |
|
B | |
| 30065 | chr1 | 156881503 | C | T |
c.2252C>T
|
p.Ala751Val
|
3.0 |
|
B |