Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32669 | chr18 | 31074738 | A | T |
c.1833T>A
|
p.Ser611Arg
|
- | 3.0 |
|
B | |
| 26156 | chr18 | 31074918 | G | A |
c.1664-11C>T
|
-
|
- | 3.0 |
|
B | |
| 24835 | chr18 | 31079951 | A | G |
c.1559T>C
|
p.Ile520Thr
|
2.0 |
|
B | ||
| 16624 | chr18 | 31080176 | C | T |
c.1440G>A
|
p.Met480Ile
|
- | 3.0 |
|
B | |
| 26584 | chr18 | 31082410 | A | C |
c.1091T>G
|
p.Val364Gly
|
2.5 |
|
B | ||
| 22397 | chr18 | 31082955 | C | T |
c.1048G>A
|
p.Asp350Asn
|
- | 3.0 |
|
B | |
| 24583 | chr18 | 31086752 | A | G |
c.776-10T>C
|
-
|
- | 3.0 |
|
B | |
| 13861 | chr18 | 31087675 | T | C |
c.769A>G
|
p.Arg257Gly
|
3.0 |
|
B | ||
| 22398 | chr18 | 31087732 | C | T |
c.712G>A
|
p.Asp238Asn
|
3.0 |
|
B | ||
| 32752 | chr18 | 31087738 | C | T |
c.706G>A
|
p.Glu236Lys
|
- | 3.0 |
|
B | |
| 29999 | chr18 | 31089431 | G | C |
c.630+8C>G
|
-
|
- | 3.0 |
|
B | |
| 17013 | chr18 | 31089564 | T | C |
c.505A>G
|
p.Ile169Val
|
3.0 |
|
B | ||
| 26895 | chr18 | 31092168 | A | C |
c.287T>G
|
p.Ile96Arg
|
- | 3.0 |
|
B | |
| 20569 | chr18 | 31092168 | A | T |
c.287T>A
|
p.Ile96Lys
|
- | 3.0 |
|
B | |
| 17397 | chr18 | 31092222 | G | A |
c.233C>T
|
p.Ser78Leu
|
3.0 |
|
B | ||
| 17145 | chr18 | 31101972 | G | A |
c.-1C>T
|
-
|
- | 3.0 |
|
B | |
| 21637 | chr18 | 31519821 | G | A |
c.100G>A
|
p.Glu34Lys
|
- | 3.0 |
|
B | |
| 19778 | chr18 | 31519881 | G | A |
c.160G>A
|
p.Ala54Thr
|
3.0 |
|
B | ||
| 21337 | chr18 | 31521138 | G | C |
c.418G>C
|
p.Glu140Gln
|
- | 3.0 |
|
B | |
| 12391 | chr18 | 31521156 | C | T |
c.436C>T
|
p.Arg146Cys
|
3.0 |
|
B |