Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15242 | chr3 | 70970800 | G | C |
c.1658C>G
|
p.Pro553Arg
|
- | 3.0 |
|
B | |
| 20728 | chr3 | 70972677 | C | G |
c.1531-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 1673 | chr3 | 70976961 | G | C |
c.1510C>G
|
p.Arg504Gly
|
3.0 |
|
B | ||
| 14636 | chr3 | 70976965 | G | C |
c.1506C>G
|
p.Phe502Leu
|
3.0 |
|
B | ||
| 9659 | chr3 | 70976967 | A | C |
c.1504T>G
|
p.Phe502Val
|
- | 3.0 |
|
B | |
| 4136 | chr3 | 70977833 | G | A |
c.1343C>T
|
p.Ser448Leu
|
3.0 |
|
B | ||
| 28671 | chr3 | 70977864 | G | A |
c.1312C>T
|
p.Arg438Trp
|
- | 3.0 |
|
B | |
| 18562 | chr3 | 70977866 | C | T |
c.1310G>A
|
p.Arg437Lys
|
- | 3.0 |
|
B | |
| 5499 | chr3 | 70978016 | G | C |
c.1160C>G
|
p.Ser387Ter
|
- | 4.0 |
|
B | |
| 4959 | chr3 | 70978037 | G | A |
c.1147-8C>T
|
-
|
3.0 |
|
B | ||
| 19415 | chr3 | 70978037 | G | GA |
c.1147-9dup
|
-
|
2.5 |
|
B | ||
| 31812 | chr3 | 70988038 | G | A |
c.1102C>T
|
p.His368Tyr
|
- | 3.0 |
|
B | |
| 11962 | chr3 | 71001009 | C | G |
c.1025G>C
|
p.Arg342Thr
|
- | 3.0 |
|
B | |
| 2667 | chr3 | 71001015 | T | C |
c.1019A>G
|
p.Gln340Arg
|
- | 3.0 |
|
B | |
| 28268 | chr3 | 71015625 | G | A |
c.898C>T
|
p.His300Tyr
|
- | 3.0 |
|
B | |
| 31260 | chr3 | 71041360 | TC | T |
c.836del
|
p.Gly279AspfsTer46
|
- | 3.5 |
|
B | |
| 31686 | chr3 | 71041494 | C | A |
c.703G>T
|
p.Val235Leu
|
- | 3.0 |
|
B | |
| 34760 | chr3 | 71041533 | C | T |
c.665-1G>A
|
p.?
|
- | 3.5 |
|
B | |
| 11730 | chr3 | 71047058 | TG | T |
c.547del
|
p.Gln183SerfsTer23
|
- | 3.5 |
|
B | |
| 34887 | chr3 | 71052532 | G | C |
c.510+5C>G
|
-
|
- | 3.0 |
|
B |