Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31091 | chr10 | 21551941 | C | G |
c.240+13029C>G
|
-
|
- | 3.0 |
|
B | |
| 5127 | chr10 | 21556911 | T | C |
c.240+17999T>C
|
-
|
- | 3.0 |
|
B | |
| 24699 | chr10 | 21586276 | C | CT |
c.241-5dup
|
-
|
2.5 |
|
B | ||
| 20244 | chr10 | 21586276 | CT | C |
c.241-5del
|
-
|
3.0 |
|
B | ||
| 19627 | chr10 | 21586276 | CTT | C |
c.241-6_241-5del
|
-
|
3.0 |
|
B | ||
| 20245 | chr10 | 21586276 | CTTT | C |
c.241-7_241-5del
|
-
|
3.0 |
|
B | ||
| 5583 | chr10 | 21595358 | A | G |
c.323A>G
|
p.Tyr108Cys
|
- | 3.0 |
|
B | |
| 35479 | chr10 | 21612358 | T | G |
c.416T>G
|
p.Ile139Ser
|
- | 3.0 |
|
B | |
| 8689 | chr10 | 21614884 | T | A |
c.563T>A
|
p.Val188Asp
|
- | 3.0 |
|
B | |
| 29708 | chr10 | 21617128 | G | T |
c.620G>T
|
p.Gly207Val
|
- | 3.0 |
|
B | |
| 19576 | chr10 | 21670455 | A | G |
c.802A>G
|
p.Thr268Ala
|
- | 3.0 |
|
B | |
| 14840 | chr10 | 21670620 | C | T |
c.967C>T
|
p.His323Tyr
|
- | 3.0 |
|
B | |
| 30336 | chr10 | 21670701 | C | G |
c.1048C>G
|
p.Gln350Glu
|
- | 3.0 |
|
B | |
| 26853 | chr10 | 21673389 | C | T |
c.1091C>T
|
p.Ser364Phe
|
- | 3.0 |
|
B | |
| 15195 | chr10 | 21673815 | C | T |
c.1517C>T
|
p.Ser506Leu
|
- | 3.0 |
|
B | |
| 11555 | chr10 | 21673928 | T | G |
c.1621+9T>G
|
-
|
- | 3.0 |
|
B | |
| 16772 | chr10 | 21682257 | G | A |
c.1699G>A
|
p.Gly567Ser
|
3.0 |
|
B | ||
| 29877 | chr10 | 21727928 | G | T |
c.2063G>T
|
p.Arg688Leu
|
- | 3.0 |
|
B | |
| 18669 | chr10 | 21732937 | G | A |
c.2257G>A
|
p.Glu753Lys
|
- | 3.0 |
|
B | |
| 21877 | chr10 | 21732953 | A | G |
c.2273A>G
|
p.Glu758Gly
|
- | 3.0 |
|
B |