Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27031 | chr18 | 669145 | AATC | A |
-
c.534_536del
|
-
p.Ile178del
|
- | 3.0 |
|
B | |
| 22507 | chr18 | 669157 | C | A |
-
c.540C>A
|
-
p.Cys180Ter
|
- | 3.0 |
|
B | |
| 16163 | chr18 | 671455 | A | C |
c.*2850T>G
c.804+4A>C
|
-
-
|
- | 3.0 |
|
B | |
| 35191 | chr18 | 672908 | G | C |
c.*1397C>G
c.853G>C
|
-
p.Val285Leu
|
- | 3.0 |
|
B | |
| 30413 | chr18 | 678153 | G | A |
c.919-281C>T
-
|
-
-
|
3.0 |
|
B | ||
| 15471 | chr18 | 732914 | C | T |
c.1343G>A
|
p.Arg448Gln
|
3.0 |
|
B | ||
| 31932 | chr18 | 743261 | C | A |
c.879G>T
|
p.Met293Ile
|
- | 3.0 |
|
B | |
| 21163 | chr18 | 745723 | C | A |
c.709G>T
|
p.Val237Leu
|
- | 3.0 |
|
B | |
| 26583 | chr18 | 745747 | G | A |
c.685C>T
|
p.Gln229Ter
|
- | 3.0 |
|
B | |
| 23195 | chr18 | 745826 | A | C |
c.606T>G
|
p.Asp202Glu
|
3.0 |
|
B | ||
| 22948 | chr18 | 746032 | C | T |
c.490G>A
|
p.Gly164Arg
|
3.0 |
|
B | ||
| 18176 | chr18 | 746055 | G | A |
c.471-4C>T
|
-
|
- | 3.0 |
|
B | |
| 23095 | chr18 | 746071 | T | C |
c.471-20A>G
|
-
|
- | 3.0 |
|
B | |
| 15601 | chr18 | 751763 | T | C |
c.313A>G
|
p.Arg105Gly
|
- | 3.0 |
|
B | |
| 3455 | chr18 | 2926730 | C | T |
c.1786G>A
|
p.Gly596Ser
|
3.0 |
|
B | ||
| 3456 | chr18 | 5890578 | C | T |
c.1486G>A
|
p.Asp496Asn
|
- | 3.0 |
|
B | |
| 3339 | chr18 | 10697865 | C | T |
c.6710G>A
|
p.Arg2237Gln
|
3.0 |
|
B | ||
| 4452 | chr18 | 10800354 | G | A |
c.1361C>T
|
p.Pro454Leu
|
- | 3.0 |
|
B | |
| 12241 | chr18 | 12674684 | C | A |
c.1693G>T
|
p.Glu565Ter
|
- | 3.0 |
|
B | |
| 21730 | chr18 | 12794477 | C | T |
c.1049G>A
|
p.Arg350Gln
|
3.0 |
|
B |