Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6660 | chr5 | 38493754 | C | T |
c.1917G>A
|
p.Met639Ile
|
3.0 |
|
B | ||
| 6997 | chr5 | 38493767 | T | C |
c.1904A>G
|
p.Gln635Arg
|
3.0 |
|
B | ||
| 29696 | chr5 | 38496448 | C | A |
c.1819G>T
|
p.Val607Leu
|
- | 3.0 |
|
B | |
| 34793 | chr5 | 38496455 | G | C |
c.1812C>G
|
p.Ile604Met
|
- | 3.0 |
|
B | |
| 24217 | chr5 | 38496487 | C | T |
c.1780G>A
|
p.Ala594Thr
|
3.0 |
|
B | ||
| 7107 | chr5 | 38499563 | T | C |
c.1621A>G
|
p.Thr541Ala
|
- | 3.0 |
|
B | |
| 1157 | chr5 | 38499578 | A | T |
c.1606T>A
|
p.Ser536Thr
|
- | 3.0 |
|
B | |
| 7330 | chr5 | 38502646 | T | C |
c.1591A>G
|
p.Thr531Ala
|
3.0 |
|
B | ||
| 19993 | chr5 | 38502658 | GT | G |
c.1578del
|
p.Lys526AsnfsTer4
|
- | 3.0 |
|
B | |
| 10252 | chr5 | 38502687 | C | T |
c.1550G>A
|
p.Trp517Ter
|
3.0 |
|
B | ||
| 13945 | chr5 | 38502751 | G | C |
c.1486C>G
|
p.Leu496Val
|
- | 3.0 |
|
B | |
| 14194 | chr5 | 38510572 | C | T |
c.883G>A
|
p.Glu295Lys
|
- | 3.0 |
|
B | |
| 7015 | chr5 | 38511809 | G | C |
c.717C>G
|
p.Ser239Arg
|
- | 3.0 |
|
B | |
| 10803 | chr5 | 38523465 | C | T |
c.515G>A
|
p.Trp172Ter
|
- | 3.0 |
|
B | |
| 2401 | chr5 | 38523565 | G | T |
c.415C>A
|
p.Pro139Thr
|
- | 3.0 |
|
B | |
| 3120 | chr5 | 38523577 | T | C |
c.403A>G
|
p.Ile135Val
|
- | 3.0 |
|
B | |
| 6045 | chr5 | 38527227 | C | T |
c.325G>A
|
p.Glu109Lys
|
- | 3.0 |
|
B | |
| 3075 | chr5 | 38527280 | T | C |
c.272A>G
|
p.Tyr91Cys
|
3.0 |
|
B | ||
| 10940 | chr5 | 38528759 | C | T |
c.224G>A
|
p.Arg75His
|
3.0 |
|
B | ||
| 1212 | chr5 | 38528765 | G | T |
c.218C>A
|
p.Thr73Lys
|
- | 3.0 |
|
B |