Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27661 | chr1 | 7664790 | C | T |
c.2243C>T
|
p.Ala748Val
|
- | 3.0 |
|
B | |
| 33782 | chr1 | 7664796 | C | A |
c.2249C>A
|
p.Pro750His
|
- | 3.0 |
|
B | |
| 22240 | chr1 | 7664951 | G | A |
c.2404G>A
|
p.Ala802Thr
|
- | 3.0 |
|
B | |
| 29480 | chr1 | 7664973 | G | A |
c.2426G>A
|
p.Gly809Glu
|
- | 3.0 |
|
B | |
| 34710 | chr1 | 7732608 | C | T |
c.3066+9C>T
|
-
|
2.0 |
|
B | ||
| 17186 | chr1 | 7736485 | C | T |
c.3208C>T
|
p.His1070Tyr
|
- | 3.0 |
|
B | |
| 21965 | chr1 | 7737327 | A | T |
c.3415A>T
|
p.Ile1139Phe
|
- | 3.0 |
|
B | |
| 32133 | chr1 | 7737546 | A | T |
c.3634A>T
|
p.Thr1212Ser
|
- | 3.0 |
|
B | |
| 25982 | chr1 | 7737568 | C | A |
c.3656C>A
|
p.Pro1219Gln
|
- | 3.0 |
|
B | |
| 28056 | chr1 | 7738418 | A | C |
c.4118A>C
|
p.Glu1373Ala
|
- | 3.0 |
|
B | |
| 26050 | chr1 | 7738462 | C | T |
c.4162C>T
|
p.Gln1388Ter
|
- | 4.0 |
|
B | |
| 20448 | chr1 | 7744894 | G | T |
c.4242G>T
|
p.Gln1414His
|
- | 3.5 |
|
B | |
| 26945 | chr1 | 7747717 | C | T |
c.4625C>T
|
p.Pro1542Leu
|
3.0 |
|
B | ||
| 26349 | chr1 | 7752518 | G | A |
c.4943G>A
|
p.Arg1648His
|
3.0 |
|
B | ||
| 32067 | chr1 | 7837018 | A | G |
c.3418A>G
|
p.Lys1140Glu
|
- | 3.0 |
|
B | |
| 30232 | chr1 | 7920897 | G | A |
c.706C>T
|
p.Gln236Ter
|
3.0 |
|
B | ||
| 19495 | chr1 | 7920925 | TA | T |
c.680-3del
|
-
|
2.0 |
|
B | ||
| 32756 | chr1 | 7920936 | T | A |
c.680-13A>T
|
-
|
2.5 |
|
B | ||
| 17845 | chr1 | 7933209 | G | A |
c.632C>T
|
p.Ser211Phe
|
3.0 |
|
B | ||
| 34280 | chr1 | 7933282 | T | C |
c.559A>G
|
p.Ile187Val
|
- | 3.0 |
|
B |