Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10317 | chr18 | 22416019 | G | A |
c.1793C>T
|
p.Ser598Phe
|
3.0 |
|
B | ||
| 12609 | chr18 | 22416062 | G | A |
c.1750C>T
|
p.Pro584Ser
|
- | 3.0 |
|
B | |
| 6696 | chr18 | 22416112 | G | A |
c.1700C>T
|
p.Pro567Leu
|
2.5 |
|
B | ||
| 34044 | chr18 | 22416217 | C | A |
c.1595G>T
|
p.Gly532Val
|
- | 3.0 |
|
B | |
| 23096 | chr18 | 22416248 | G | A |
c.1564C>T
|
p.Arg522Trp
|
3.0 |
|
B | ||
| 9286 | chr18 | 22416292 | G | A |
c.1520C>T
|
p.Pro507Leu
|
3.0 |
|
B | ||
| 34784 | chr18 | 22416468 | T | G |
c.1344A>C
|
p.Lys448Asn
|
- | 3.0 |
|
B | |
| 34722 | chr18 | 22416501 | C | A |
c.1311G>T
|
p.Trp437Cys
|
- | 3.0 |
|
B | |
| 14666 | chr18 | 22416542 | G | A |
c.1270C>T
|
p.Leu424Phe
|
3.0 |
|
B | ||
| 9770 | chr18 | 22416602 | G | A |
c.1210C>T
|
p.Arg404Ter
|
3.0 |
|
B | ||
| 3894 | chr18 | 22416731 | C | G |
c.1081G>C
|
p.Glu361Gln
|
- | 3.0 |
|
B | |
| 13438 | chr18 | 22416803 | C | A |
c.1009G>T
|
p.Glu337Ter
|
- | 3.0 |
|
B | |
| 34045 | chr18 | 22417055 | C | A |
c.757G>T
|
p.Glu253Ter
|
- | 3.0 |
|
B | |
| 9568 | chr18 | 22417103 | G | T |
c.709C>A
|
p.Leu237Met
|
- | 3.0 |
|
B | |
| 22396 | chr18 | 22417135 | A | G |
c.677T>C
|
p.Val226Ala
|
- | 3.0 |
|
B | |
| 7259 | chr18 | 22417208 | A | T |
c.604T>A
|
p.Trp202Arg
|
- | 3.0 |
|
B | |
| 5040 | chr18 | 22417244 | C | T |
c.568G>A
|
p.Glu190Lys
|
- | 3.0 |
|
B | |
| 13439 | chr18 | 22417393 | G | A |
c.419C>T
|
p.Ser140Phe
|
- | 3.0 |
|
B | |
| 3131 | chr18 | 22417423 | G | A |
c.389C>T
|
p.Ser130Phe
|
- | 3.0 |
|
B | |
| 1037 | chr18 | 22417472 | C | G |
c.340G>C
|
p.Glu114Gln
|
- | 3.0 |
|
B |