Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7375 | chr12 | 45850720 | C | G |
c.2597C>G
|
p.Ser866Ter
|
- | 4.0 |
|
B | |
| 22006 | chr12 | 45850749 | C | T |
c.2626C>T
|
p.Gln876Ter
|
- | 4.0 |
|
B | |
| 16342 | chr12 | 45850756 | T | C |
c.2633T>C
|
p.Val878Ala
|
- | 3.0 |
|
B | |
| 30863 | chr12 | 45850860 | C | T |
c.2737C>T
|
p.Gln913Ter
|
- | 4.0 |
|
B | |
| 24667 | chr12 | 45850869 | C | G |
c.2746C>G
|
p.Gln916Glu
|
- | 3.5 |
|
B | |
| 30638 | chr12 | 45850917 | C | G |
c.2794C>G
|
p.Pro932Ala
|
- | 3.0 |
|
B | |
| 30639 | chr12 | 45850928 | A | C |
c.2805A>C
|
p.Gln935His
|
- | 3.0 |
|
B | |
| 30640 | chr12 | 45850947 | G | T |
c.2824G>T
|
p.Ala942Ser
|
- | 3.0 |
|
B | |
| 26890 | chr12 | 45850956 | C | A |
c.2833C>A
|
p.Gln945Lys
|
- | 3.0 |
|
B | |
| 30641 | chr12 | 45850958 | A | C |
c.2835A>C
|
p.Gln945His
|
- | 3.0 |
|
B | |
| 8028 | chr12 | 45850995 | C | T |
c.2872C>T
|
p.Gln958Ter
|
4.5 |
|
B | ||
| 30642 | chr12 | 45851004 | C | T |
c.2881C>T
|
p.Gln961Ter
|
- | 4.0 |
|
B | |
| 28664 | chr12 | 45851106 | C | T |
c.2983C>T
|
p.Gln995Ter
|
- | 4.0 |
|
B | |
| 34270 | chr12 | 45851110 | C | A |
c.2987C>A
|
p.Ser996Ter
|
- | 4.0 |
|
B | |
| 8133 | chr12 | 45851115 | G | T |
c.2992G>T
|
p.Gly998Ter
|
- | 4.0 |
|
B | |
| 9873 | chr12 | 45851136 | C | T |
c.3013C>T
|
p.Gln1005Ter
|
- | 4.0 |
|
B | |
| 27876 | chr12 | 45851187 | C | T |
c.3064C>T
|
p.Pro1022Ser
|
- | 3.0 |
|
B | |
| 8475 | chr12 | 45851202 | CA | C |
c.3081del
|
p.Val1028TyrfsTer32
|
- | 4.0 |
|
B | |
| 6482 | chr12 | 45851208 | C | T |
c.3085C>T
|
p.Gln1029Ter
|
- | 4.0 |
|
B | |
| 32701 | chr12 | 45851214 | C | T |
c.3091C>T
|
p.Gln1031Ter
|
4.0 |
|
B |