Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2800 | chr1 | 197477695 | C | T |
c.4037C>T
|
p.Thr1346Ile
|
3.0 |
|
B | ||
| 21073 | chr1 | 198694122 | C | A |
c.100+1749C>A
|
-
|
- | 3.0 |
|
B | |
| 16306 | chr1 | 198694134 | C | T |
c.100+1761C>T
|
-
|
- | 3.0 |
|
B | |
| 31026 | chr1 | 198696712 | G | A |
c.101G>A
|
p.Gly34Glu
|
3.0 |
|
B | ||
| 3843 | chr1 | 198696727 | AG | A |
c.117del
|
p.Met40CysfsTer127
|
- | 4.0 |
|
B | |
| 29487 | chr1 | 198696728 | G | A |
c.117G>A
|
p.Lys39=
|
- | 3.0 |
|
B | |
| 35587 | chr1 | 198696859 | C | A |
c.248C>A
|
p.Thr83Asn
|
- | 3.0 |
|
B | |
| 1275 | chr1 | 198699597 | C | T |
c.332C>T
|
p.Thr111Met
|
- | 3.0 |
|
B | |
| 5387 | chr1 | 198699649 | C | T |
c.384C>T
|
p.Ser128=
|
- | 3.0 |
|
B | |
| 22074 | chr1 | 198699703 | A | C |
c.438A>C
|
p.Ser146=
|
- | 3.5 |
|
B | |
| 6532 | chr1 | 198702402 | G | A |
c.455G>A
|
p.Arg152Lys
|
- | 3.0 |
|
B | |
| 15698 | chr1 | 198702404 | A | C |
c.457A>C
|
p.Ser153Arg
|
- | 3.0 |
|
B | |
| 2302 | chr1 | 198702495 | G | C |
c.548G>C
|
p.Arg183Pro
|
- | 3.0 |
|
B | |
| 13613 | chr1 | 198703337 | C | A |
c.623C>A
|
p.Pro208His
|
- | 3.0 |
|
B | |
| 22248 | chr1 | 198703349 | C | T |
c.635C>T
|
p.Ala212Val
|
3.0 |
|
B | ||
| 17487 | chr1 | 198704452 | AT | A |
c.659-12del
|
-
|
2.0 |
|
B | ||
| 2710 | chr1 | 198706894 | CAT | C |
c.849_850del
|
p.His285Ter
|
- | 4.0 |
|
B | |
| 13321 | chr1 | 198706924 | T | A |
c.876T>A
|
p.Asp292Glu
|
3.0 |
|
B | ||
| 31197 | chr1 | 198706961 | C | T |
c.904+9C>T
|
-
|
- | 3.0 |
|
B | |
| 14434 | chr1 | 198708123 | T | G |
c.905-10T>G
|
-
|
3.0 |
|
B |