Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9054 | chr3 | 10096383 | C | T |
c.4096C>T
|
p.Leu1366Phe
|
- | 3.0 |
|
B | |
| 18994 | chr3 | 10096487 | C | T |
c.4185+15C>T
|
-
|
- | 3.0 |
|
B | |
| 1982 | chr3 | 10141894 | A | T |
c.47A>T
|
p.Glu16Val
|
3.0 |
|
B | ||
| 32909 | chr3 | 10141959 | TCCGGCC | T |
c.114_119del
|
p.Gly39_Pro40del
|
- | 3.0 |
|
B | |
| 34081 | chr3 | 10142008 | TGGA | T |
c.164_166del
|
p.Glu55del
|
- | 3.0 |
|
B | |
| 30775 | chr3 | 10142049 | T | C |
c.202T>C
|
p.Ser68Pro
|
- | 3.5 |
|
B | |
| 35567 | chr3 | 10142050 | C | CG |
c.204dup
|
p.Arg69AlafsTer63
|
- | 4.5 |
|
B | |
| 11137 | chr3 | 10142056 | AG | A |
c.210del
|
p.Glu70AspfsTer89
|
- | 4.0 |
|
B | |
| 23858 | chr3 | 10142064 | C | G |
c.217C>G
|
p.Gln73Glu
|
2.5 |
|
B | ||
| 9977 | chr3 | 10142067 | G | GTC |
c.221_222dup
|
p.Ile75SerfsTer85
|
- | 4.0 |
|
B | |
| 10836 | chr3 | 10142069 | C | CT |
c.222_223insT
|
p.Ile75TyrfsTer57
|
- | 4.0 |
|
B | |
| 25345 | chr3 | 10142071 | TCTTCTG | T |
c.226_231del
|
p.Phe76_Cys77del
|
- | 3.5 |
|
B | |
| 34258 | chr3 | 10142088 | C | CG |
c.241_242insG
|
p.Pro81ArgfsTer51
|
- | 4.0 |
|
B | |
| 7724 | chr3 | 10142101 | T | C |
c.254T>C
|
p.Leu85Pro
|
3.0 |
|
B | ||
| 34266 | chr3 | 10142109 | TGGCTCAACTTC | T |
c.264_274del
|
p.Trp88Ter
|
- | 4.5 |
|
B | |
| 7669 | chr3 | 10142179 | G | T |
c.332G>T
|
p.Ser111Ile
|
3.0 |
|
B | ||
| 25233 | chr3 | 10142186 | AG | A |
c.340+1del
|
p.?
|
- | 4.0 |
|
B | |
| 24244 | chr3 | 10143117 | AT | A |
c.340+945del
|
-
|
3.0 |
|
B | ||
| 6117 | chr3 | 10146513 | G | T |
c.341-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 31837 | chr3 | 10146546 | CACGAT | C |
c.374_378del
|
p.His125ArgfsTer5
|
- | 4.0 |
|
B |