Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17457 | chr10 | 58388809 | CA | C |
c.441del
|
p.Glu148SerfsTer2
|
3.0 |
|
B | ||
| 19633 | chr10 | 58388809 | CAA | C |
c.440_441del
|
p.Lys147ArgfsTer16
|
3.0 |
|
B | ||
| 3437 | chr10 | 59654521 | C | T |
c.505G>A
|
p.Gly169Arg
|
3.0 |
|
B | ||
| 20604 | chr10 | 59792927 | G | T |
c.1415C>A
|
p.Ser472Tyr
|
- | 3.0 |
|
B | |
| 21231 | chr10 | 59794486 | G | A |
c.1217C>T
|
p.Ser406Phe
|
- | 3.0 |
|
B | |
| 20869 | chr10 | 59804485 | G | A |
c.1040C>T
|
p.Pro347Leu
|
- | 3.0 |
|
B | |
| 24043 | chr10 | 59812630 | C | T |
c.847+5G>A
|
-
|
3.5 |
|
B | ||
| 29644 | chr10 | 59812769 | G | A |
c.713C>T
|
p.Pro238Leu
|
- | 3.0 |
|
B | |
| 23565 | chr10 | 59814675 | C | A |
c.663G>T
|
p.Met221Ile
|
- | 3.0 |
|
B | |
| 25376 | chr10 | 59814692 | G | A |
c.646C>T
|
p.Arg216Cys
|
- | 3.0 |
|
B | |
| 30227 | chr10 | 59814765 | G | A |
c.583-10C>T
|
-
|
3.0 |
|
B | ||
| 13819 | chr10 | 59832645 | A | C |
c.462T>G
|
p.His154Gln
|
- | 3.0 |
|
B | |
| 28613 | chr10 | 59852588 | ATTC | A |
c.415_417del
|
p.Glu139del
|
- | 3.0 |
|
B | |
| 19634 | chr10 | 59852708 | TAAA | T |
c.304-9_304-7del
|
-
|
3.0 |
|
B | ||
| 29942 | chr10 | 59906203 | C | G |
c.222G>C
|
p.Lys74Asn
|
- | 3.0 |
|
B | |
| 21475 | chr10 | 60055675 | T | G |
c.13048A>C
|
p.Ser4350Arg
|
- | 3.0 |
|
B | |
| 14838 | chr10 | 60055935 | G | T |
c.12788C>A
|
p.Thr4263Lys
|
- | 3.0 |
|
B | |
| 11742 | chr10 | 60056050 | T | C |
c.12687-14A>G
|
-
|
- | 3.0 |
|
B | |
| 18796 | chr10 | 60059324 | T | C |
c.12686+16A>G
|
-
|
3.0 |
|
B | ||
| 28274 | chr10 | 60059379 | C | T |
c.12647G>A
|
p.Arg4216Gln
|
3.0 |
|
B |