Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2963 | chr20 | 9580705 | C | T |
c.430G>A
|
p.Glu144Lys
|
3.0 |
|
B | ||
| 4079 | chr20 | 9580735 | C | T |
c.400G>A
|
p.Glu134Lys
|
3.0 |
|
B | ||
| 7816 | chr20 | 9580804 | C | T |
c.331G>A
|
p.Gly111Arg
|
3.0 |
|
B | ||
| 5037 | chr20 | 9580849 | G | A |
c.286C>T
|
p.Arg96Cys
|
3.0 |
|
B | ||
| 8796 | chr20 | 9580855 | C | T |
c.280G>A
|
p.Val94Met
|
- | 3.0 |
|
B | |
| 685 | chr20 | 9644143 | G | C |
c.186C>G
|
p.Ile62Met
|
- | 3.0 |
|
B | |
| 21349 | chr20 | 9644222 | G | A |
c.107C>T
|
p.Pro36Leu
|
3.0 |
|
B | ||
| 1873 | chr20 | 9644301 | C | A |
c.28G>T
|
p.Glu10Ter
|
- | 3.0 |
|
B | |
| 11631 | chr20 | 9644305 | C | G |
c.24G>C
|
p.Lys8Asn
|
3.0 |
|
B | ||
| 5143 | chr20 | 9644339 | C | A |
c.-11G>T
|
-
|
- | 3.0 |
|
B | |
| 3464 | chr20 | 10292931 | G | A |
c.164-230G>A
|
-
|
- | 3.0 |
|
B | |
| 2617 | chr20 | 10293227 | A | T |
c.230A>T
|
p.Asn77Ile
|
- | 3.0 |
|
B | |
| 4782 | chr20 | 17600859 | C | CACTG |
c.126_127insCTGA
|
p.Asp43LeufsTer25
|
- | 3.0 |
|
B | |
| 4560 | chr20 | 17947486 | C | T |
c.1078G>A
|
p.Glu360Lys
|
- | 3.0 |
|
B | |
| 34657 | chr20 | 18511035 | A | C |
c.200A>C
|
p.Lys67Thr
|
- | 3.0 |
|
B | |
| 16092 | chr20 | 18524452 | T | G |
c.386T>G
|
p.Leu129Arg
|
- | 3.0 |
|
B | |
| 12995 | chr20 | 18524507 | CAA | C |
c.443_444del
|
p.Lys148ArgfsTer29
|
- | 3.0 |
|
B | |
| 28841 | chr20 | 18524931 | TA | T |
c.604-2del
|
p.?
|
- | 3.0 |
|
B | |
| 19123 | chr20 | 18524981 | G | A |
c.650G>A
|
p.Arg217Gln
|
3.0 |
|
B | ||
| 35368 | chr20 | 18525789 | T | C |
c.691T>C
|
p.Phe231Leu
|
- | 3.0 |
|
B |