Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3054 | chr12 | 21475553 | TCCCATACCAAATGCAAC | T |
c.1114_1130del
-
|
p.Val372AsnfsTer2
-
|
- | 3.5 |
|
B | |
| 27355 | chr12 | 21475678 | G | A |
c.1096C>T
-
|
p.Gln366Ter
-
|
3.5 |
|
B | ||
| 20097 | chr12 | 21476994 | T | TA |
c.868-3dup
|
-
|
3.0 |
|
B | ||
| 25835 | chr12 | 21477787 | C | A |
c.867+16G>T
|
-
|
- | 3.0 |
|
B | |
| 11025 | chr12 | 21477816 | T | C |
c.854A>G
|
p.Asn285Ser
|
- | 3.0 |
|
B | |
| 7249 | chr12 | 21483375 | C | A |
c.700+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 23940 | chr12 | 21486525 | T | A |
c.455A>T
|
p.Lys152Ile
|
- | 3.0 |
|
B | |
| 18739 | chr12 | 21491539 | G | A |
c.194C>T
|
p.Pro65Leu
|
3.0 |
|
B | ||
| 9439 | chr12 | 21491651 | G | A |
c.82C>T
|
p.Leu28Phe
|
3.0 |
|
B | ||
| 25890 | chr12 | 21499542 | C | T |
c.16+13G>A
-
|
-
-
|
- | 3.0 |
|
B | |
| 3482 | chr12 | 21818220 | G | A |
c.3701C>T
|
p.Ala1234Val
|
- | 3.0 |
|
B | |
| 3483 | chr12 | 21818248 | A | T |
c.3673T>A
|
p.Tyr1225Asn
|
- | 3.0 |
|
B | |
| 17183 | chr12 | 22625173 | G | T |
c.-258G>T
|
-
|
- | 3.0 |
|
B | |
| 15590 | chr12 | 22625199 | C | T |
c.-232C>T
|
-
|
3.0 |
|
B | ||
| 15199 | chr12 | 22625512 | C | T |
c.82C>T
|
p.Arg28Cys
|
3.0 |
|
B | ||
| 31173 | chr12 | 22625543 | A | G |
c.113A>G
|
p.Gln38Arg
|
- | 3.0 |
|
B | |
| 1415 | chr12 | 22625562 | G | A |
c.132G>A
|
p.Trp44Ter
|
- | 4.0 |
|
B | |
| 11998 | chr12 | 22643745 | A | T |
c.157-18A>T
|
-
|
3.0 |
|
B | ||
| 6594 | chr12 | 22643752 | A | T |
c.157-11A>T
|
-
|
3.0 |
|
B | ||
| 22203 | chr12 | 22659120 | C | T |
c.523C>T
|
p.Pro175Ser
|
- | 3.0 |
|
B |