Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24387 | chr3 | 47086224 | G | A |
c.5368C>T
|
p.Arg1790Trp
|
3.0 |
|
B | ||
| 161 | chr3 | 47086315 | C | G |
c.5278-1G>C
|
p.?
|
- | 4.5 |
|
B | |
| 26942 | chr3 | 47088094 | C | A |
c.5277+19G>T
|
-
|
- | 3.0 |
|
B | |
| 6408 | chr3 | 47088222 | A | G |
c.5168T>C
|
p.Met1723Thr
|
- | 3.0 |
|
B | |
| 33438 | chr3 | 47097946 | C | A |
c.5142+9G>T
|
-
|
- | 3.0 |
|
B | |
| 6164 | chr3 | 47098028 | C | T |
c.5069G>A
|
p.Gly1690Glu
|
- | 3.0 |
|
B | |
| 23353 | chr3 | 47098029 | C | T |
c.5068G>A
|
p.Gly1690Arg
|
4.0 |
|
B | ||
| 15025 | chr3 | 47101480 | C | A |
c.4993G>T
|
p.Asp1665Tyr
|
- | 3.0 |
|
B | |
| 7004 | chr3 | 47101492 | C | CT |
c.4980dup
|
p.Glu1661ArgfsTer5
|
- | 4.0 |
|
B | |
| 1270 | chr3 | 47101543 | C | T |
c.4930G>A
|
p.Gly1644Arg
|
2.5 |
|
B | ||
| 24726 | chr3 | 47101552 | T | A |
c.4921A>T
|
p.Thr1641Ser
|
- | 3.0 |
|
B | |
| 162 | chr3 | 47101553 | C | T |
c.4920G>A
|
p.Trp1640Ter
|
- | 4.67 |
|
A | |
| 26392 | chr3 | 47103389 | C | A |
c.4874G>T
|
p.Arg1625Leu
|
- | 3.5 |
|
B | |
| 32740 | chr3 | 47103390 | G | A |
c.4873C>T
|
p.Arg1625Cys
|
- | 3.5 |
|
B | |
| 8415 | chr3 | 47103428 | G | A |
c.4840-5C>T
|
-
|
- | 3.0 |
|
B | |
| 10466 | chr3 | 47106026 | A | T |
c.4810T>A
|
p.Tyr1604Asn
|
- | 4.0 |
|
B | |
| 27499 | chr3 | 47106135 | G | A |
c.4716-15C>T
|
-
|
3.0 |
|
B | ||
| 31838 | chr3 | 47113910 | C | G |
c.4681G>C
|
p.Gly1561Arg
|
- | 3.0 |
|
B | |
| 4156 | chr3 | 47116642 | G | A |
c.4567C>T
|
p.Arg1523Cys
|
- | 3.0 |
|
B | |
| 16404 | chr3 | 47116643 | A | T |
c.4566T>A
|
p.Asn1522Lys
|
- | 3.0 |
|
B |