Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24743 | chr3 | 142578621 | G | A |
c.59+25C>T
|
-
|
- | 3.0 |
|
B | |
| 24740 | chr3 | 142578645 | C | T |
c.59+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 22855 | chr3 | 142578700 | C | T |
c.5G>A
|
p.Gly2Glu
|
3.0 |
|
B | ||
| 4354 | chr3 | 149050227 | C | T |
c.1617+5G>A
|
-
|
3.0 |
|
B | ||
| 29192 | chr3 | 149520829 | A | AC |
c.1178dup
|
p.Ser393ArgfsTer2
|
- | 3.0 |
|
B | |
| 32146 | chr3 | 149520924 | C | G |
c.1084G>C
|
p.Asp362His
|
- | 3.0 |
|
B | |
| 13734 | chr3 | 149520945 | T | G |
c.1063A>C
|
p.Thr355Pro
|
- | 3.0 |
|
B | |
| 14279 | chr3 | 149526046 | C | T |
c.985G>A
|
p.Asp329Asn
|
3.0 |
|
B | ||
| 21614 | chr3 | 149542369 | C | T |
c.737G>A
|
p.Arg246Lys
|
- | 3.0 |
|
B | |
| 35079 | chr3 | 149542435 | G | A |
c.671C>T
|
p.Ala224Val
|
3.0 |
|
B | ||
| 26484 | chr3 | 149656921 | C | A |
c.386G>T
|
p.Gly129Val
|
- | 3.0 |
|
B | |
| 22465 | chr3 | 149656937 | G | A |
c.370C>T
|
p.Leu124=
|
- | 3.0 |
|
B | |
| 33391 | chr3 | 149656989 | G | A |
c.318C>T
|
p.Pro106=
|
- | 3.0 |
|
B | |
| 32762 | chr3 | 149656999 | G | A |
c.308C>T
|
p.Ala103Val
|
3.0 |
|
B | ||
| 3389 | chr3 | 151745609 | G | A |
c.532G>A
|
p.Val178Met
|
3.0 |
|
B | ||
| 19423 | chr3 | 152300108 | CTT | C |
c.-76_-75del
|
-
|
3.0 |
|
B | ||
| 15259 | chr3 | 153163261 | C | T |
c.*16C>T
|
-
|
- | 3.0 |
|
B | |
| 3390 | chr3 | 155481168 | G | A |
c.4858C>T
|
p.Arg1620Cys
|
3.0 |
|
B | ||
| 34762 | chr3 | 155914452 | C | A |
c.920C>A
|
p.Thr307Lys
|
- | 3.0 |
|
B | |
| 17043 | chr3 | 155916172 | A | C |
c.1192A>C
|
p.Ile398Leu
|
- | 3.0 |
|
B |