Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10249 | chr1 | 158681577 | G | A |
c.481C>T
|
p.Gln161Ter
|
3.0 |
|
B | ||
| 24928 | chr1 | 158681594 | A | T |
c.464T>A
|
p.Leu155Gln
|
- | 3.0 |
|
B | |
| 1804 | chr1 | 158681618 | G | A |
c.440C>T
|
p.Thr147Ile
|
3.0 |
|
B | ||
| 17148 | chr1 | 158681625 | C | G |
c.433G>C
|
p.Glu145Gln
|
- | 3.0 |
|
B | |
| 27068 | chr1 | 158681646 | G | T |
c.412C>A
|
p.His138Asn
|
- | 3.0 |
|
B | |
| 23744 | chr1 | 158681674 | G | A |
c.391-7C>T
|
-
|
- | 3.0 |
|
B | |
| 31879 | chr1 | 158683359 | C | T |
c.390+12G>A
|
-
|
- | 3.0 |
|
B | |
| 5115 | chr1 | 158683447 | G | C |
c.314C>G
|
p.Ser105Ter
|
- | 3.0 |
|
B | |
| 33601 | chr1 | 158683453 | G | GT |
c.307dup
|
p.Thr103AsnfsTer8
|
- | 3.0 |
|
B | |
| 891 | chr1 | 158683454 | T | C |
c.307A>G
|
p.Thr103Ala
|
- | 3.0 |
|
B | |
| 9010 | chr1 | 158683457 | G | T |
c.304C>A
|
p.Gln102Lys
|
- | 3.0 |
|
B | |
| 16528 | chr1 | 158683475 | A | C |
c.286T>G
|
p.Ser96Ala
|
- | 3.0 |
|
B | |
| 8710 | chr1 | 158685107 | C | A |
c.264+1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 8711 | chr1 | 158685108 | C | G |
c.264G>C
|
p.Gln88His
|
- | 3.0 |
|
B | |
| 1513 | chr1 | 158685182 | C | T |
c.190G>A
|
p.Asp64Asn
|
- | 3.0 |
|
B | |
| 33195 | chr1 | 158685194 | G | A |
c.178C>T
|
p.Arg60Ter
|
3.5 |
|
B | ||
| 1547 | chr1 | 158685289 | C | T |
c.83G>A
|
p.Arg28His
|
3.5 |
|
B | ||
| 9006 | chr1 | 158842166 | T | C |
c.13T>C
|
p.Tyr5His
|
- | 3.0 |
|
B | |
| 3912 | chr1 | 158842190 | G | A |
c.37G>A
|
p.Gly13Arg
|
- | 3.0 |
|
B | |
| 6721 | chr1 | 158842277 | G | T |
c.124G>T
|
p.Glu42Ter
|
- | 3.0 |
|
B |