Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26478 | chr12 | 32824070 | A | G |
c.1649T>C
|
p.Ile550Thr
|
- | 3.0 |
|
B | |
| 9916 | chr12 | 32824140 | C | A |
c.1579G>T
|
p.Asp527Tyr
|
- | 3.0 |
|
B | |
| 33772 | chr12 | 32841065 | C | T |
c.1519G>A
|
p.Asp507Asn
|
3.0 |
|
B | ||
| 32569 | chr12 | 32841139 | G | A |
c.1445C>T
|
p.Thr482Met
|
1.5 |
|
B | ||
| 32382 | chr12 | 32841196 | C | T |
c.1388G>A
|
p.Trp463Ter
|
- | 3.0 |
|
B | |
| 33353 | chr12 | 32843190 | T | C |
c.1379-1985A>G
|
-
|
3.0 |
|
B | ||
| 25592 | chr12 | 32843202 | C | T |
c.1379-1997G>A
|
-
|
2.5 |
|
B | ||
| 17659 | chr12 | 32843216 | C | CAG |
c.1379-2012_1379-2011insCT
|
-
|
3.0 |
|
B | ||
| 4234 | chr12 | 32843232 | T | C |
c.1379-2027A>G
|
-
|
3.0 |
|
B | ||
| 20966 | chr12 | 32843250 | G | A |
c.1379-2045C>T
|
-
|
3.0 |
|
B | ||
| 28513 | chr12 | 32843260 | C | T |
c.1379-2055G>A
|
-
|
3.0 |
|
B | ||
| 14214 | chr12 | 32850771 | A | T |
c.1373T>A
|
p.Ile458Lys
|
3.0 |
|
B | ||
| 14512 | chr12 | 32850961 | G | A |
c.1183C>T
|
p.Arg395Cys
|
3.0 |
|
B | ||
| 29948 | chr12 | 32877877 | C | T |
c.1003G>A
|
p.Glu335Lys
|
3.0 |
|
B | ||
| 28393 | chr12 | 32878145 | C | G |
c.735G>C
|
p.Arg245Ser
|
- | 3.0 |
|
B | |
| 30192 | chr12 | 32878374 | C | T |
c.506G>A
|
p.Ser169Asn
|
- | 3.0 |
|
B | |
| 18406 | chr12 | 32878450 | G | A |
c.430C>T
|
p.Pro144Ser
|
- | 3.0 |
|
B | |
| 25636 | chr12 | 32878948 | G | A |
c.308C>T
|
p.Pro103Leu
|
3.0 |
|
B | ||
| 18323 | chr12 | 32879032 | C | T |
c.224G>A
|
p.Gly75Glu
|
3.0 |
|
B | ||
| 11339 | chr12 | 32896538 | G | T |
c.194C>A
|
p.Ala65Asp
|
- | 3.0 |
|
B |