Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 19327 | chr12 | 124419978 | A | T |
c.1461T>A
|
p.Tyr487Ter
|
- | 4.0 |
|
B | |
| 13434 | chr12 | 124429677 | G | A |
c.1085C>T
|
p.Ser362Phe
|
3.0 |
|
B | ||
| 1165 | chr12 | 124430720 | T | C |
c.950A>G
|
p.Glu317Gly
|
- | 3.0 |
|
B | |
| 25193 | chr12 | 124430730 | C | A |
c.940G>T
|
p.Glu314Ter
|
- | 4.5 |
|
B | |
| 33213 | chr12 | 124430757 | G | A |
c.913C>T
|
p.Leu305Phe
|
- | 3.0 |
|
B | |
| 15658 | chr12 | 124437949 | T | C |
c.863A>G
|
p.Asn288Ser
|
3.0 |
|
B | ||
| 1598 | chr12 | 124437950 | TC | T |
c.861del
|
p.Asn288IlefsTer107
|
- | 3.5 |
|
B | |
| 21917 | chr12 | 124449827 | T | A |
c.803A>T
|
p.Glu268Val
|
- | 3.5 |
|
B | |
| 19676 | chr12 | 124466253 | C | T |
c.625G>A
|
p.Glu209Lys
|
3.0 |
|
B | ||
| 5425 | chr12 | 124472971 | G | C |
c.572C>G
|
p.Ser191Cys
|
- | 3.0 |
|
B | |
| 34912 | chr12 | 124483604 | G | A |
c.403C>T
|
p.Leu135Phe
|
3.0 |
|
B | ||
| 22923 | chr12 | 124483643 | G | A |
c.364C>T
|
p.Pro122Ser
|
3.0 |
|
B | ||
| 8603 | chr12 | 124483687 | C | T |
c.320G>A
|
p.Arg107His
|
3.0 |
|
B | ||
| 3006 | chr12 | 124495148 | G | A |
c.104C>T
|
p.Thr35Met
|
3.0 |
|
B | ||
| 3581 | chr12 | 125350012 | G | A |
c.628G>A
|
p.Glu210Lys
|
- | 3.0 |
|
B | |
| 3446 | chr12 | 128695907 | C | T |
c.1733C>T
|
p.Thr578Ile
|
3.0 |
|
B | ||
| 31185 | chr12 | 132620517 | C | G |
-
c.708C>G
|
-
p.Cys236Trp
|
- | 3.0 |
|
B | |
| 14951 | chr12 | 132624899 | G | T |
c.6747+6C>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 14690 | chr12 | 132632473 | C | T |
c.6172G>A
|
p.Glu2058Lys
|
- | 3.0 |
|
B | |
| 873 | chr12 | 132632512 | G | A |
c.6137-4C>T
|
-
|
- | 2.5 |
|
B |