Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34863 | chr12 | 9755085 | C | T |
c.364G>A
|
p.Val122Ile
|
3.0 |
|
B | ||
| 20683 | chr12 | 9755186 | T | C |
c.263A>G
|
p.Asp88Gly
|
- | 3.0 |
|
B | |
| 30320 | chr12 | 9755196 | A | G |
c.253T>C
|
p.Cys85Arg
|
3.0 |
|
B | ||
| 34178 | chr12 | 9755214 | C | G |
c.235G>C
|
p.Asp79His
|
- | 3.0 |
|
B | |
| 6376 | chr12 | 9755269 | C | G |
c.188-8G>C
|
-
|
- | 3.0 |
|
B | |
| 30154 | chr12 | 9756336 | A | T |
c.148T>A
|
p.Phe50Ile
|
- | 3.0 |
|
B | |
| 12093 | chr12 | 9756415 | A | T |
c.69T>A
|
p.Asp23Glu
|
- | 3.0 |
|
B | |
| 4523 | chr12 | 10435922 | C | T |
c.65G>A
|
p.Arg22Lys
|
3.0 |
|
B | ||
| 7045 | chr12 | 11650143 | G | C |
c.16G>C
|
p.Ala6Pro
|
- | 3.0 |
|
B | |
| 27539 | chr12 | 11752571 | C | T |
c.155C>T
|
p.Ala52Val
|
2.5 |
|
B | ||
| 17333 | chr12 | 11752589 | C | T |
c.163+10C>T
|
-
|
2.0 |
|
B | ||
| 2274 | chr12 | 11839212 | T | C |
c.236T>C
|
p.Leu79Ser
|
- | 3.0 |
|
B | |
| 1348 | chr12 | 11853511 | ACT | A |
c.416_417del
|
p.Ser139TyrfsTer14
|
- | 4.5 |
|
B | |
| 9096 | chr12 | 11869489 | G | A |
c.529G>A
|
p.Glu177Lys
|
- | 3.0 |
|
B | |
| 27326 | chr12 | 11869883 | A | C |
c.923A>C
|
p.His308Pro
|
- | 3.0 |
|
B | |
| 28760 | chr12 | 11869943 | A | C |
c.983A>C
|
p.His328Pro
|
- | 3.0 |
|
B | |
| 442 | chr12 | 11869969 | G | A |
c.1009G>A
|
p.Asp337Asn
|
- | 4.0 |
|
A | |
| 33732 | chr12 | 11869970 | G | A |
c.1009+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 20561 | chr12 | 11869983 | C | T |
c.1009+14C>T
|
-
|
3.0 |
|
B | ||
| 5131 | chr12 | 11878553 | A | T |
c.1010-5892A>T
|
-
|
- | 3.0 |
|
B |