Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7050 | chr1 | 158674348 | G | T |
c.1331C>A
|
p.Ser444Tyr
|
- | 3.0 |
|
B | |
| 7593 | chr1 | 158674370 | C | T |
c.1309G>A
|
p.Val437Met
|
3.0 |
|
B | ||
| 4201 | chr1 | 158674405 | C | T |
c.1274G>A
|
p.Arg425Gln
|
3.0 |
|
B | ||
| 15572 | chr1 | 158674591 | TG | T |
c.1196del
|
p.Pro399GlnfsTer39
|
- | 3.0 |
|
B | |
| 11383 | chr1 | 158674671 | G | A |
c.1117C>T
|
p.His373Tyr
|
3.0 |
|
B | ||
| 13208 | chr1 | 158676125 | G | A |
c.1112+16C>T
|
-
|
- | 3.0 |
|
B | |
| 30139 | chr1 | 158676137 | C | T |
c.1112+4G>A
|
-
|
- | 3.0 |
|
B | |
| 7620 | chr1 | 158677699 | C | A |
c.948G>T
|
p.Met316Ile
|
- | 3.0 |
|
B | |
| 15790 | chr1 | 158677717 | C | A |
c.930G>T
|
p.Glu310Asp
|
- | 3.0 |
|
B | |
| 34369 | chr1 | 158677761 | G | T |
c.886C>A
|
p.Leu296Ile
|
- | 3.0 |
|
B | |
| 17058 | chr1 | 158677782 | A | T |
c.865T>A
|
p.Ser289Thr
|
- | 3.0 |
|
B | |
| 4955 | chr1 | 158677797 | C | T |
c.850G>A
|
p.Glu284Lys
|
3.0 |
|
B | ||
| 11292 | chr1 | 158677833 | C | A |
c.814G>T
|
p.Asp272Tyr
|
3.0 |
|
B | ||
| 21584 | chr1 | 158677833 | C | T |
c.814G>A
|
p.Asp272Asn
|
3.0 |
|
B | ||
| 25749 | chr1 | 158678411 | G | A |
c.802C>T
|
p.Arg268Ter
|
3.0 |
|
B | ||
| 34792 | chr1 | 158678427 | A | C |
c.786T>G
|
p.Asn262Lys
|
- | 3.0 |
|
B | |
| 25338 | chr1 | 158678464 | C | G |
c.749G>C
|
p.Arg250Pro
|
- | 3.0 |
|
B | |
| 3957 | chr1 | 158681521 | C | T |
c.531+6G>A
|
-
|
3.0 |
|
B | ||
| 30167 | chr1 | 158681522 | G | A |
c.531+5C>T
|
-
|
3.0 |
|
B | ||
| 11184 | chr1 | 158681525 | A | G |
c.531+2T>C
|
p.?
|
- | 3.0 |
|
B |