Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 28164 | chr1 | 231353160 | G | C |
c.1269G>C
|
p.Lys423Asn
|
- | 3.0 |
|
B | |
| 8553 | chr1 | 231353194 | A | G |
c.1303A>G
|
p.Lys435Glu
|
- | 3.0 |
|
B | |
| 35151 | chr1 | 231367561 | A | G |
c.1216+8T>C
|
-
|
3.0 |
|
B | ||
| 23027 | chr1 | 231421285 | T | A |
c.604A>T
|
p.Met202Leu
|
- | 3.0 |
|
B | |
| 18216 | chr1 | 231421334 | C | T |
c.555G>A
|
p.Thr185=
|
3.0 |
|
B | ||
| 19527 | chr1 | 231421394 | TG | T |
c.494del
|
p.Pro165GlnfsTer9
|
3.0 |
|
B | ||
| 18846 | chr1 | 231421517 | C | CGTCGCCGTGTCGT |
c.371_372insACGACACGGCGAC
|
p.Ser125ArgfsTer126
|
- | 3.0 |
|
B | |
| 21834 | chr1 | 231421861 | C | A |
c.28G>T
|
p.Gly10Trp
|
- | 3.0 |
|
B | |
| 4046 | chr1 | 235181833 | G | A |
c.3086C>T
|
p.Ser1029Leu
|
3.0 |
|
B | ||
| 4813 | chr1 | 235788801 | T | C |
c.4588A>G
|
p.Arg1530Gly
|
3.0 |
|
B | ||
| 11238 | chr1 | 236808743 | A | T |
c.379A>T
|
p.Lys127Ter
|
- | 3.0 |
|
B | |
| 4814 | chr1 | 236894527 | G | T |
c.3375G>T
|
p.Met1125Ile
|
- | 3.0 |
|
B | |
| 27987 | chr1 | 237042539 | G | T |
c.18G>T
|
p.Glu6Asp
|
- | 3.0 |
|
B | |
| 24226 | chr1 | 237042548 | C | T |
c.27C>T
|
p.Asp9=
|
- | 2.0 |
|
B | |
| 20793 | chr1 | 237270539 | G | A |
c.91G>A
|
p.Glu31Lys
|
- | 3.0 |
|
B | |
| 13412 | chr1 | 237270633 | C | A |
c.168+17C>A
|
-
|
- | 3.0 |
|
B | |
| 30531 | chr1 | 237330863 | C | T |
c.169-15C>T
|
-
|
- | 3.0 |
|
B | |
| 29684 | chr1 | 237330930 | C | T |
c.221C>T
|
p.Ser74Phe
|
- | 3.0 |
|
B | |
| 24411 | chr1 | 237330962 | A | G |
c.253A>G
|
p.Thr85Ala
|
- | 3.0 |
|
B | |
| 34552 | chr1 | 237355964 | G | T |
c.274-1G>T
|
p.?
|
- | 3.0 |
|
B |