Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29715 | chr12 | 49053614 | C | A |
c.701G>T
|
p.Gly234Val
|
- | 3.0 |
|
B | |
| 16375 | chr12 | 49053994 | C | A |
c.657G>T
|
p.Glu219Asp
|
- | 3.0 |
|
B | |
| 9729 | chr12 | 49054383 | C | T |
c.434G>A
|
p.Trp145Ter
|
- | 4.0 |
|
B | |
| 20014 | chr12 | 49054624 | TC | T |
c.303del
|
p.Ser102AlafsTer28
|
4.5 |
|
B | ||
| 2527 | chr12 | 49054655 | C | T |
c.273G>A
|
p.Trp91Ter
|
- | 4.0 |
|
B | |
| 26617 | chr12 | 49054939 | G | A |
c.137C>T
|
p.Ser46Phe
|
- | 3.0 |
|
B | |
| 24651 | chr12 | 49054954 | AC | A |
c.121del
|
p.Val41SerfsTer89
|
- | 4.0 |
|
B | |
| 32560 | chr12 | 50080570 | T | G |
c.1278T>G
-
|
p.Tyr426Ter
-
|
3.5 |
|
B | ||
| 27672 | chr12 | 50085383 | CG | C |
-
c.17del
|
-
p.Gly6ValfsTer64
|
- | 4.0 |
|
B | |
| 13494 | chr12 | 50085466 | ACTCCGGGG | A |
-
c.99_106del
|
-
p.Pro34SerfsTer94
|
- | 4.0 |
|
B | |
| 18651 | chr12 | 50086891 | A | G |
-
c.531+13A>G
|
-
-
|
- | 3.0 |
|
B | |
| 13856 | chr12 | 50087426 | G | A |
-
c.595G>A
|
-
p.Asp199Asn
|
- | 3.0 |
|
B | |
| 33817 | chr12 | 50087486 | G | C |
-
c.654+1G>C
|
-
p.?
|
- | 4.0 |
|
B | |
| 33818 | chr12 | 50087487 | T | C |
-
c.654+2T>C
|
-
p.?
|
- | 4.0 |
|
B | |
| 16343 | chr12 | 50088520 | G | A |
-
c.655-1G>A
|
-
p.?
|
- | 4.0 |
|
B | |
| 20381 | chr12 | 50089902 | AC | A |
c.793del
|
p.Gln265ArgfsTer8
|
- | 4.0 |
|
B | |
| 6092 | chr12 | 50090261 | C | A |
c.894C>A
|
p.Asp298Glu
|
- | 3.0 |
|
B | |
| 32869 | chr12 | 50090607 | G | C |
c.1133+17G>C
|
-
|
- | 3.0 |
|
B | |
| 6203 | chr12 | 50096863 | TAGAAACCATCAACCAGCTG | T |
c.1285_1303del
|
p.Glu429ArgfsTer8
|
- | 4.0 |
|
B | |
| 12546 | chr12 | 50096892 | C | T |
c.1312C>T
|
p.Arg438Trp
|
3.0 |
|
B |