Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12915 | chr10 | 70597843 | TAA | T |
c.*208_*209del
|
-
|
1.0 |
|
B | ||
| 24138 | chr10 | 70597843 | TAAA | T |
c.*207_*209del
|
-
|
1.5 |
|
B | ||
| 19586 | chr10 | 70597843 | TAAAA | T |
c.*206_*209del
|
-
|
3.0 |
|
B | ||
| 15916 | chr10 | 70598115 | C | A |
c.1606G>T
|
p.Asp536Tyr
|
- | 3.0 |
|
B | |
| 6069 | chr10 | 70598428 | C | T |
c.1293G>A
|
p.Trp431Ter
|
- | 4.0 |
|
B | |
| 886 | chr10 | 70598553 | G | A |
c.1168C>T
|
p.Arg390Ter
|
4.0 |
|
B | ||
| 17052 | chr10 | 70598591 | C | A |
c.1130G>T
|
p.Cys377Phe
|
- | 3.0 |
|
B | |
| 8174 | chr10 | 70598604 | G | A |
c.1117C>T
|
p.Arg373Cys
|
3.0 |
|
B | ||
| 10526 | chr10 | 70598615 | G | A |
c.1106C>T
|
p.Thr369Met
|
2.5 |
|
B | ||
| 21294 | chr10 | 70598636 | C | T |
c.1085G>A
|
p.Arg362Lys
|
- | 3.0 |
|
B | |
| 6165 | chr10 | 70598679 | C | T |
c.1042G>A
|
p.Val348Met
|
3.0 |
|
B | ||
| 34268 | chr10 | 70598757 | GC | G |
c.963del
|
p.Glu323SerfsTer7
|
- | 3.5 |
|
B | |
| 32903 | chr10 | 70598963 | T | C |
c.758A>G
|
p.Glu253Gly
|
- | 3.0 |
|
B | |
| 19016 | chr10 | 70599036 | G | A |
c.685C>T
|
p.Leu229=
|
- | 3.0 |
|
B | |
| 995 | chr10 | 70599059 | G | C |
c.662C>G
|
p.Thr221Ser
|
- | 3.0 |
|
B | |
| 33261 | chr10 | 70599120 | G | A |
c.601C>T
|
p.Pro201Ser
|
3.0 |
|
B | ||
| 24017 | chr10 | 70600490 | T | G |
c.413A>C
|
p.Lys138Thr
|
- | 3.0 |
|
B | |
| 30241 | chr10 | 70600536 | G | A |
c.367C>T
|
p.Arg123Cys
|
3.0 |
|
B | ||
| 16973 | chr10 | 70600593 | G | T |
c.310C>A
|
p.Arg104Ser
|
- | 3.0 |
|
B | |
| 13117 | chr10 | 70600617 | G | A |
c.286C>T
|
p.Arg96Trp
|
3.0 |
|
B |