Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30643 | chr12 | 45851250 | C | T |
c.3127C>T
|
p.Gln1043Ter
|
4.0 |
|
B | ||
| 27558 | chr12 | 45851448 | T | G |
c.3325T>G
|
p.Phe1109Val
|
- | 3.0 |
|
B | |
| 7117 | chr12 | 45851496 | C | CA |
c.3377dup
|
p.Asn1126LysfsTer34
|
- | 4.0 |
|
B | |
| 30644 | chr12 | 45851505 | C | T |
c.3382C>T
|
p.Gln1128Ter
|
- | 4.0 |
|
B | |
| 17830 | chr12 | 45851576 | GC | G |
c.3455del
|
p.Pro1152GlnfsTer4
|
- | 4.0 |
|
B | |
| 28405 | chr12 | 45851759 | TCCAGTAC | T |
c.3637_3643del
|
p.Pro1213LysfsTer28
|
- | 4.0 |
|
B | |
| 9769 | chr12 | 45851812 | G | T |
c.3689G>T
|
p.Cys1230Phe
|
- | 3.0 |
|
B | |
| 8508 | chr12 | 45851937 | C | T |
c.3814C>T
|
p.Arg1272Ter
|
- | 4.5 |
|
B | |
| 7118 | chr12 | 45851941 | G | A |
c.3818G>A
|
p.Arg1273Gln
|
3.0 |
|
B | ||
| 6151 | chr12 | 45851982 | G | T |
c.3859G>T
|
p.Glu1287Ter
|
- | 4.0 |
|
B | |
| 28644 | chr12 | 45852017 | G | C |
c.3894G>C
|
p.Lys1298Asn
|
3.0 |
|
B | ||
| 13049 | chr12 | 45852117 | G | T |
c.3994G>T
|
p.Glu1332Ter
|
- | 4.0 |
|
B | |
| 27599 | chr12 | 45852300 | A | G |
c.4177A>G
|
p.Met1393Val
|
3.0 |
|
B | ||
| 17107 | chr12 | 45852316 | C | CTAAA |
c.4194_4195insAAAT
|
p.Leu1399LysfsTer13
|
- | 4.0 |
|
B | |
| 8269 | chr12 | 45852507 | C | T |
c.4384C>T
|
p.Gln1462Ter
|
- | 4.0 |
|
B | |
| 16977 | chr12 | 45852628 | A | G |
c.4505A>G
|
p.Asp1502Gly
|
3.0 |
|
B | ||
| 7587 | chr12 | 45852654 | G | T |
c.4531G>T
|
p.Glu1511Ter
|
- | 4.0 |
|
B | |
| 24456 | chr12 | 45852832 | TAGAAAGTGCTGTTC | T |
c.4712_4725del
|
p.Glu1571AlafsTer33
|
- | 4.0 |
|
B | |
| 16452 | chr12 | 45852914 | C | T |
c.4773+18C>T
|
-
|
- | 3.0 |
|
B | |
| 21822 | chr12 | 45860823 | C | T |
c.4796C>T
|
p.Pro1599Leu
|
- | 3.0 |
|
B |