Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31669 | chr12 | 6588351 | C | T |
c.3412G>A
|
p.Ala1138Thr
|
- | 3.0 |
|
B | |
| 15385 | chr12 | 6588407 | T | G |
c.3356A>C
|
p.Gln1119Pro
|
- | 3.0 |
|
B | |
| 21972 | chr12 | 6588421 | T | C |
c.3342A>G
|
p.Ala1114=
|
- | 3.0 |
|
B | |
| 32167 | chr12 | 6591492 | C | T |
c.3314G>A
|
p.Arg1105Gln
|
- | 3.5 |
|
B | |
| 30153 | chr12 | 6591504 | G | C |
c.3302C>G
|
p.Thr1101Ser
|
- | 3.0 |
|
B | |
| 10233 | chr12 | 6591510 | C | G |
c.3296G>C
|
p.Gly1099Ala
|
- | 3.0 |
|
B | |
| 34909 | chr12 | 6591927 | C | T |
c.3079G>A
|
p.Val1027Met
|
- | 3.0 |
|
B | |
| 6966 | chr12 | 6591959 | T | G |
c.3047A>C
|
p.Lys1016Thr
|
- | 3.0 |
|
B | |
| 27161 | chr12 | 6591963 | G | A |
c.3043C>T
|
p.Leu1015Phe
|
- | 3.0 |
|
B | |
| 7812 | chr12 | 6592403 | G | A |
c.2938C>T
|
p.Pro980Ser
|
- | 3.0 |
|
B | |
| 734 | chr12 | 6592417 | C | T |
c.2924G>A
|
p.Arg975His
|
- | 4.0 |
|
B | |
| 895 | chr12 | 6592489 | C | T |
c.2852G>A
|
p.Gly951Glu
|
- | 3.0 |
|
B | |
| 30632 | chr12 | 6592583 | G | A |
c.2775-17C>T
|
-
|
- | 3.0 |
|
B | |
| 4391 | chr12 | 6592706 | C | CG |
c.2763dup
|
p.Glu922ArgfsTer15
|
- | 3.0 |
|
B | |
| 21042 | chr12 | 6593114 | G | A |
c.2629C>T
|
p.Arg877Trp
|
- | 3.5 |
|
B | |
| 9238 | chr12 | 6593408 | T | G |
c.2514+8A>C
|
-
|
2.0 |
|
B | ||
| 21957 | chr12 | 6593539 | C | G |
c.2391G>C
|
p.Trp797Cys
|
- | 3.0 |
|
B | |
| 1082 | chr12 | 6593576 | G | A |
c.2354C>T
|
p.Ser785Phe
|
- | 3.0 |
|
B | |
| 28615 | chr12 | 6594516 | C | A |
c.2256G>T
|
p.Glu752Asp
|
- | 3.0 |
|
B | |
| 25190 | chr12 | 6594584 | G | C |
c.2188C>G
|
p.Gln730Glu
|
- | 3.0 |
|
B |