Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8027 | chr12 | 45811519 | CT | C |
c.388del
|
p.Ser130ProfsTer85
|
- | 4.0 |
|
B | |
| 32189 | chr12 | 45811549 | C | T |
c.416C>T
|
p.Ser139Leu
|
- | 3.0 |
|
B | |
| 3077 | chr12 | 45817819 | G | A |
c.568G>A
|
p.Val190Ile
|
3.0 |
|
B | ||
| 2510 | chr12 | 45817892 | A | G |
c.637+4A>G
|
-
|
- | 3.0 |
|
B | |
| 1968 | chr12 | 45836822 | G | A |
c.854G>A
|
p.Arg285Gln
|
3.0 |
|
B | ||
| 20815 | chr12 | 45836830 | C | T |
c.862C>T
|
p.Gln288Ter
|
- | 4.0 |
|
B | |
| 8822 | chr12 | 45836847 | G | C |
c.879G>C
|
p.Leu293Phe
|
3.0 |
|
B | ||
| 32627 | chr12 | 45836854 | CT | C |
c.889del
|
p.Ser297ProfsTer31
|
- | 4.0 |
|
B | |
| 3902 | chr12 | 45836858 | C | T |
c.890C>T
|
p.Ser297Phe
|
- | 4.0 |
|
B | |
| 4113 | chr12 | 45836908 | C | T |
c.940C>T
|
p.Arg314Cys
|
4.0 |
|
B | ||
| 7187 | chr12 | 45836992 | G | T |
c.1023+1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 30555 | chr12 | 45837382 | G | A |
c.1085G>A
|
p.Cys362Tyr
|
- | 3.0 |
|
B | |
| 15564 | chr12 | 45837498 | G | A |
c.1121G>A
|
p.Gly374Asp
|
- | 3.0 |
|
B | |
| 9564 | chr12 | 45837654 | C | T |
c.1277C>T
|
p.Thr426Met
|
3.0 |
|
B | ||
| 28404 | chr12 | 45837678 | CA | C |
c.1306del
|
p.Ile436LeufsTer4
|
- | 4.0 |
|
B | |
| 21325 | chr12 | 45837683 | A | G |
c.1306A>G
|
p.Ile436Val
|
- | 3.0 |
|
B | |
| 31174 | chr12 | 45837687 | CA | C |
c.1314del
|
p.Val439Ter
|
- | 4.0 |
|
B | |
| 8482 | chr12 | 45837698 | A | T |
c.1321A>T
|
p.Lys441Ter
|
- | 4.0 |
|
B | |
| 34103 | chr12 | 45839402 | TG | T |
c.1405del
|
p.Glu469AsnfsTer18
|
- | 4.0 |
|
B | |
| 7859 | chr12 | 45839463 | G | T |
c.1465G>T
|
p.Val489Phe
|
- | 3.0 |
|
B |