Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12210 | chr18 | 31522149 | C | T |
c.590C>T
|
p.Ser197Phe
|
- | 3.0 |
|
B | |
| 22949 | chr18 | 31522245 | G | A |
c.686G>A
|
p.Arg229Lys
|
- | 3.0 |
|
B | |
| 31933 | chr18 | 31522360 | A | G |
c.690+111A>G
|
-
|
- | 3.0 |
|
B | |
| 12209 | chr18 | 31524683 | C | T |
c.829-20C>T
|
-
|
- | 3.0 |
|
B | |
| 32733 | chr18 | 31524686 | G | A |
c.829-17G>A
|
-
|
3.0 |
|
B | ||
| 21691 | chr18 | 31524807 | AT | A |
c.936del
|
p.Phe312LeufsTer12
|
- | 3.0 |
|
B | |
| 22950 | chr18 | 31536303 | G | A |
c.1525G>A
|
p.Asp509Asn
|
2.5 |
|
B | ||
| 17625 | chr18 | 31538867 | G | A |
c.1768G>A
|
p.Val590Ile
|
- | 3.0 |
|
B | |
| 20877 | chr18 | 31538919 | A | T |
c.1820A>T
|
p.Tyr607Phe
|
3.0 |
|
B | ||
| 21338 | chr18 | 31538960 | G | T |
c.1861G>T
|
p.Ala621Ser
|
- | 3.0 |
|
B | |
| 21339 | chr18 | 31538970 | TC | T |
c.1873del
|
p.Leu625CysfsTer9
|
- | 3.0 |
|
B | |
| 19779 | chr18 | 31541234 | G | A |
c.1921G>A
|
p.Ala641Thr
|
2.5 |
|
B | ||
| 17463 | chr18 | 31541295 | G | T |
c.1982G>T
|
p.Gly661Val
|
- | 3.0 |
|
B | |
| 18486 | chr18 | 31542655 | G | A |
c.2137G>A
|
p.Glu713Lys
|
1.0 |
|
B | ||
| 19256 | chr18 | 31542734 | T | C |
c.2216T>C
|
p.Ile739Thr
|
- | 3.0 |
|
B | |
| 30501 | chr18 | 31542858 | G | A |
c.2334+6G>A
|
-
|
- | 3.0 |
|
B | |
| 12646 | chr18 | 31545738 | T | A |
c.2352T>A
|
p.Thr784=
|
3.0 |
|
B | ||
| 29339 | chr18 | 31545895 | G | C |
c.2509G>C
|
p.Ala837Pro
|
- | 3.0 |
|
B | |
| 12406 | chr18 | 31546277 | CAG | C |
c.2896_2897del
|
p.Arg966GlyfsTer15
|
- | 3.0 |
|
B | |
| 30881 | chr18 | 31546378 | G | A |
c.2992G>A
|
p.Gly998Arg
|
- | 3.0 |
|
B |