Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22727 | chr5 | 24593381 | A | G |
c.110T>C
|
p.Leu37Ser
|
- | 3.0 |
|
B | |
| 15314 | chr5 | 24593417 | A | G |
c.74T>C
|
p.Met25Thr
|
- | 3.0 |
|
B | |
| 23464 | chr5 | 24593429 | G | T |
c.62C>A
|
p.Ser21Tyr
|
- | 3.0 |
|
B | |
| 34061 | chr5 | 24593454 | A | T |
c.37T>A
|
p.Trp13Arg
|
- | 3.0 |
|
B | |
| 5171 | chr5 | 26902487 | G | T |
c.1242C>A
|
p.Asn414Lys
|
3.0 |
|
B | ||
| 4444 | chr5 | 26903708 | C | T |
c.928G>A
|
p.Gly310Arg
|
3.0 |
|
B | ||
| 8112 | chr5 | 31405688 | G | A |
c.3983C>T
|
p.Ala1328Val
|
- | 3.0 |
|
B | |
| 24413 | chr5 | 31405695 | T | C |
c.3976A>G
|
p.Met1326Val
|
3.0 |
|
B | ||
| 35010 | chr5 | 31406948 | G | C |
c.3855-3C>G
|
-
|
- | 3.0 |
|
B | |
| 26565 | chr5 | 31409083 | C | T |
c.3827G>A
|
p.Gly1276Glu
|
- | 3.0 |
|
B | |
| 8449 | chr5 | 31410763 | A | T |
c.3650T>A
|
p.Leu1217Ter
|
- | 4.0 |
|
B | |
| 23409 | chr5 | 31410801 | G | T |
c.3612C>A
|
p.Asp1204Glu
|
- | 3.0 |
|
B | |
| 24976 | chr5 | 31410891 | C | A |
c.3526-4G>T
|
-
|
3.0 |
|
B | ||
| 5270 | chr5 | 31421358 | C | T |
c.3439G>A
|
p.Glu1147Lys
|
- | 3.0 |
|
B | |
| 10166 | chr5 | 31429536 | TAAACAGCTCCTAGATGA | T |
c.3146-8_3154del
|
p.?
|
- | 4.0 |
|
B | |
| 5469 | chr5 | 31431585 | C | A |
c.3136G>T
|
p.Ala1046Ser
|
- | 3.0 |
|
B | |
| 19446 | chr5 | 31435868 | CA | C |
c.2943-5del
|
-
|
2.5 |
|
B | ||
| 29353 | chr5 | 31435877 | A | AG |
c.2943-14_2943-13insC
|
-
|
- | 3.0 |
|
B | |
| 10689 | chr5 | 31448553 | G | A |
c.2876C>T
|
p.Pro959Leu
|
- | 3.0 |
|
B | |
| 30762 | chr5 | 31451559 | T | C |
c.2656A>G
|
p.Thr886Ala
|
- | 3.0 |
|
B |