Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14480 | chr12 | 6677243 | C | T |
c.703G>A
|
p.Gly235Ser
|
3.0 |
|
B | ||
| 23183 | chr12 | 6678217 | A | C |
c.596T>G
|
p.Met199Arg
|
- | 3.0 |
|
B | |
| 22601 | chr12 | 6678329 | G | A |
c.484C>T
|
p.Pro162Ser
|
3.0 |
|
B | ||
| 23290 | chr12 | 6678653 | T | G |
c.352+10A>C
|
-
|
- | 3.0 |
|
B | |
| 33655 | chr12 | 6679071 | G | A |
c.179C>T
|
p.Ser60Phe
|
- | 3.0 |
|
B | |
| 31974 | chr12 | 6773919 | C | A |
c.429C>A
-
|
p.Asp143Glu
-
|
- | 3.0 |
|
B | |
| 24310 | chr12 | 6773980 | C | T |
c.490C>T
-
|
p.Leu164=
-
|
- | 3.0 |
|
B | |
| 18757 | chr12 | 6774585 | C | T |
c.512-10C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 13626 | chr12 | 6774629 | C | T |
c.546C>T
-
|
p.Ser182=
-
|
3.0 |
|
B | ||
| 11198 | chr12 | 6774694 | G | A |
c.611G>A
-
|
p.Arg204Gln
-
|
3.0 |
|
B | ||
| 12196 | chr12 | 6774754 | G | A |
c.671G>A
-
|
p.Ser224Asn
-
|
- | 3.0 |
|
B | |
| 25687 | chr12 | 6774816 | T | C |
c.733T>C
-
|
p.Tyr245His
-
|
- | 3.0 |
|
B | |
| 34177 | chr12 | 6775401 | GGCCC | G |
c.911_914del
-
|
p.Gly304ValfsTer5
-
|
- | 3.0 |
|
B | |
| 25191 | chr12 | 6778331 | G | A |
c.1519G>A
|
p.Glu507Lys
|
3.0 |
|
B | ||
| 5200 | chr12 | 7369455 | C | T |
c.3941G>A
|
p.Arg1314Gln
|
3.0 |
|
B | ||
| 4522 | chr12 | 7495111 | G | A |
c.1390C>T
|
p.His464Tyr
|
- | 3.0 |
|
B | |
| 12227 | chr12 | 9094987 | C | T |
c.2111G>A
|
p.Arg704His
|
2.0 |
|
B | ||
| 13763 | chr12 | 9753601 | T | TA |
c.492-13dup
|
-
|
3.0 |
|
B | ||
| 10314 | chr12 | 9754636 | C | T |
c.442G>A
|
p.Glu148Lys
|
3.0 |
|
B | ||
| 9970 | chr12 | 9755066 | T | A |
c.383A>T
|
p.Asp128Val
|
- | 3.0 |
|
B |