Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30403 | chr12 | 57526002 | G | A |
c.1034G>A
-
|
p.Arg345Lys
-
|
- | 3.0 |
|
B | |
| 16086 | chr12 | 57748583 | G | A |
c.854C>T
c.*1293G>A
|
p.Ser285Phe
-
|
- | 3.0 |
|
B | |
| 1103 | chr12 | 57748622 | G | T |
c.820-5C>A
c.*1332G>T
|
-
-
|
- | 3.0 |
|
B | |
| 5896 | chr12 | 57751256 | G | T |
-
c.305C>A
-
|
-
p.Thr102Lys
-
|
- | 3.0 |
|
B | |
| 17705 | chr12 | 57751588 | C | T |
-
c.130G>A
-
|
-
p.Gly44Arg
-
|
- | 3.0 |
|
B | |
| 30194 | chr12 | 57751648 | G | A |
-
c.70C>T
-
|
-
p.Arg24Cys
-
|
4.5 |
|
B | ||
| 24253 | chr12 | 57751815 | CA | C |
-
c.-19-80del
-
|
-
-
-
|
3.0 |
|
B | ||
| 27768 | chr12 | 58874041 | C | T |
c.3115+14G>A
|
-
|
- | 3.0 |
|
B | |
| 24208 | chr12 | 58874085 | C | T |
c.3085G>A
|
p.Ala1029Thr
|
- | 3.0 |
|
B | |
| 23902 | chr12 | 58874250 | A | G |
c.2920T>C
|
p.Ser974Pro
|
- | 3.0 |
|
B | |
| 35136 | chr12 | 58874526 | T | C |
c.2743A>G
|
p.Thr915Ala
|
3.0 |
|
B | ||
| 13458 | chr12 | 58877503 | CACGACACCCACAGTGGCCCATCCGTCATCGTCTA | C |
c.2399_2432del
|
p.Leu800Ter
|
- | 4.0 |
|
B | |
| 25016 | chr12 | 58879116 | A | ATCACACT |
c.1802-12_1802-11insAGTGTGA
|
-
|
- | 3.0 |
|
B | |
| 21104 | chr12 | 58880919 | G | A |
c.1481-18C>T
|
-
|
- | 3.0 |
|
B | |
| 13857 | chr12 | 58883559 | T | C |
c.1277A>G
|
p.Gln426Arg
|
3.0 |
|
B | ||
| 18142 | chr12 | 58885908 | G | A |
c.1173-6C>T
|
-
|
- | 3.0 |
|
B | |
| 24046 | chr12 | 58885913 | AAATTAC | A |
c.1173-17_1173-12del
|
-
|
- | 3.0 |
|
B | |
| 25970 | chr12 | 58887879 | A | G |
c.1001T>C
|
p.Leu334Pro
|
- | 3.0 |
|
B | |
| 13285 | chr12 | 58888388 | T | TTGGC |
c.884_887dup
|
p.Asn297ProfsTer10
|
- | 4.0 |
|
B | |
| 30996 | chr12 | 58888471 | G | A |
c.805C>T
|
p.Gln269Ter
|
4.0 |
|
B |