Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9703 | chr20 | 58854553 | G | A |
c.1288G>A
|
p.Asp430Asn
|
3.0 |
|
B | ||
| 729 | chr20 | 58854564 | A | G |
c.1299A>G
|
p.Ala433=
|
3.0 |
|
B | ||
| 5139 | chr20 | 58854650 | C | G |
c.1385C>G
|
p.Pro462Arg
|
- | 3.0 |
|
B | |
| 2211 | chr20 | 58854738 | G | A |
c.1473G>A
|
p.Ala491=
|
3.0 |
|
B | ||
| 33450 | chr20 | 58854797 | G | A |
c.1532G>A
|
p.Arg511His
|
3.0 |
|
B | ||
| 5949 | chr20 | 58854835 | C | T |
c.1570C>T
|
p.Arg524Cys
|
3.0 |
|
B | ||
| 32276 | chr20 | 58854853 | C | A |
c.1588C>A
|
p.Pro530Thr
|
3.0 |
|
B | ||
| 18191 | chr20 | 58854880 | G | A |
c.1615G>A
|
p.Asp539Asn
|
- | 3.0 |
|
B | |
| 9150 | chr20 | 58854946 | C | T |
c.1681C>T
|
p.Arg561Cys
|
3.0 |
|
B | ||
| 6337 | chr20 | 58854951 | C | T |
c.1686C>T
|
p.Arg562=
|
3.0 |
|
B | ||
| 15388 | chr20 | 58854985 | G | A |
c.1720G>A
|
p.Asp574Asn
|
3.0 |
|
B | ||
| 7998 | chr20 | 58855023 | C | T |
c.1758C>T
|
p.Ser586=
|
3.0 |
|
B | ||
| 28507 | chr20 | 58855033 | C | A |
c.1768C>A
|
p.Arg590Ser
|
- | 3.0 |
|
B | |
| 9107 | chr20 | 58855038 | G | A |
c.1773G>A
|
p.Trp591Ter
|
3.0 |
|
B | ||
| 21285 | chr20 | 58855089 | C | A |
c.1824C>A
|
p.Leu608=
|
- | 3.0 |
|
B | |
| 13654 | chr20 | 58855121 | G | A |
c.1856G>A
|
p.Cys619Tyr
|
- | 3.0 |
|
B | |
| 4966 | chr20 | 58855130 | G | A |
c.1865G>A
|
p.Arg622Gln
|
3.0 |
|
B | ||
| 25560 | chr20 | 58855160 | G | A |
c.1895G>A
|
p.Arg632His
|
- | 3.0 |
|
B | |
| 13751 | chr20 | 58855290 | C | T |
c.2025C>T
|
p.Asp675=
|
3.0 |
|
B | ||
| 4194 | chr20 | 58891816 | G | A |
c.90G>A
|
p.Leu30=
|
2.0 |
|
B |