Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3134 | chr22 | 29604113 | G | C |
c.114+1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 8693 | chr22 | 29604114 | T | A |
c.114+2T>A
|
p.?
|
- | 4.0 |
|
B | |
| 12595 | chr22 | 29636736 | G | A |
c.115-15G>A
|
-
|
- | 3.5 |
|
B | |
| 18194 | chr22 | 29636745 | T | G |
c.115-6T>G
|
-
|
- | 3.0 |
|
B | |
| 2269 | chr22 | 29636749 | A | T |
c.115-2A>T
|
p.?
|
- | 4.0 |
|
B | |
| 5554 | chr22 | 29636758 | G | A |
c.122G>A
|
p.Trp41Ter
|
4.5 |
|
B | ||
| 26464 | chr22 | 29636805 | C | T |
c.169C>T
|
p.Arg57Ter
|
4.5 |
|
B | ||
| 8745 | chr22 | 29636816 | G | A |
c.180G>A
|
p.Trp60Ter
|
4.5 |
|
B | ||
| 10937 | chr22 | 29636829 | C | T |
c.193C>T
|
p.Gln65Ter
|
4.5 |
|
B | ||
| 4392 | chr22 | 29636877 | G | A |
c.240+1G>A
|
p.?
|
4.0 |
|
B | ||
| 12988 | chr22 | 29636881 | G | A |
c.240+5G>A
|
-
|
- | 3.5 |
|
B | |
| 5007 | chr22 | 29639089 | G | C |
c.241-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 29401 | chr22 | 29639171 | G | A |
c.322G>A
|
p.Glu108Lys
|
- | 3.0 |
|
B | |
| 32597 | chr22 | 29639193 | AACATTT | A |
c.346_351del
|
p.His116_Leu117del
|
- | 3.0 |
|
B | |
| 28622 | chr22 | 29642213 | GATTTTAGATGAAAAGATCTA | G |
c.376_395del
|
p.Ile126LeufsTer4
|
- | 4.0 |
|
B | |
| 3108 | chr22 | 29642268 | T | TA |
c.431dup
|
p.Tyr144Ter
|
4.5 |
|
B | ||
| 17718 | chr22 | 29642271 | G | A |
c.433G>A
|
p.Ala145Thr
|
3.0 |
|
B | ||
| 3907 | chr22 | 29642286 | G | A |
c.447+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 18373 | chr22 | 29642287 | T | A |
c.447+2T>A
|
p.?
|
- | 4.0 |
|
B | |
| 13261 | chr22 | 29642287 | T | C |
c.447+2T>C
|
p.?
|
- | 4.5 |
|
B |