Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4904 | chr12 | 4445533 | C | T |
c.38G>A
|
p.Arg13Gln
|
3.0 |
|
B | ||
| 28360 | chr12 | 4548764 | C | T |
c.484C>T
|
p.Gln162Ter
|
- | 3.0 |
|
B | |
| 17140 | chr12 | 4556503 | G | A |
c.871+1G>A
|
p.?
|
3.0 |
|
B | ||
| 32289 | chr12 | 4558866 | G | C |
-
c.881G>C
|
-
p.Gly294Ala
|
- | 3.0 |
|
B | |
| 27748 | chr12 | 4558931 | C | T |
-
c.946C>T
|
-
p.Arg316Cys
|
3.0 |
|
B | ||
| 3686 | chr12 | 6374552 | G | A |
c.232C>T
|
p.Gln78Ter
|
- | 3.0 |
|
B | |
| 20753 | chr12 | 6445111 | C | T |
c.16C>T
|
p.Pro6Ser
|
- | 3.0 |
|
B | |
| 29255 | chr12 | 6445244 | C | A |
c.136+13C>A
|
-
|
- | 3.0 |
|
B | |
| 12195 | chr12 | 6445430 | T | A |
c.143T>A
|
p.Phe48Tyr
|
3.0 |
|
B | ||
| 29564 | chr12 | 6451295 | C | A |
-
c.686C>A
|
-
p.Ala229Glu
|
- | 3.0 |
|
B | |
| 7295 | chr12 | 6451300 | C | A |
-
c.691C>A
|
-
p.Pro231Thr
|
3.0 |
|
B | ||
| 14694 | chr12 | 6451345 | C | T |
-
c.736C>T
|
-
p.Pro246Ser
|
- | 3.0 |
|
B | |
| 13995 | chr12 | 6451374 | G | C |
-
c.765G>C
|
-
p.Glu255Asp
|
- | 3.0 |
|
B | |
| 24806 | chr12 | 6453586 | CATGCAGGTCTCTGGAGGGGGACCTAGCATCTCCTTGGTGATGAAGACTCCCAGG | C |
c.436_489del
-
|
p.Met146_Arg163del
-
|
- | 3.0 |
|
B | |
| 5199 | chr12 | 6556002 | A | C |
-
c.28T>G
|
-
p.Phe10Val
|
- | 3.0 |
|
B | |
| 22997 | chr12 | 6573175 | T | G |
c.5456A>C
-
|
p.Asn1819Thr
-
|
- | 3.0 |
|
B | |
| 18599 | chr12 | 6578154 | G | A |
c.5120-17C>T
|
-
|
- | 3.0 |
|
B | |
| 6229 | chr12 | 6578866 | G | C |
c.4961C>G
|
p.Pro1654Arg
|
- | 3.0 |
|
B | |
| 19659 | chr12 | 6581020 | CA | C |
c.4909+23del
|
-
|
3.0 |
|
B | ||
| 32096 | chr12 | 6581349 | T | C |
c.4721A>G
|
p.Glu1574Gly
|
- | 3.0 |
|
B |