Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 9501 | chr22 | 20991678 | C | A |
c.842C>A
|
p.Pro281Gln
|
- | 3.0 |
|
B | |
| 32577 | chr22 | 20991733 | T | G |
c.897T>G
|
p.Phe299Leu
|
- | 3.0 |
|
B | |
| 9996 | chr22 | 20991737 | G | A |
c.901G>A
|
p.Gly301Ser
|
3.0 |
|
B | ||
| 9318 | chr22 | 20991743 | G | A |
c.907G>A
|
p.Ala303Thr
|
- | 3.0 |
|
B | |
| 21565 | chr22 | 20991753 | C | T |
c.917C>T
|
p.Thr306Met
|
3.0 |
|
B | ||
| 4927 | chr22 | 20992361 | G | GTA |
c.1141_1142insTA
|
p.Ala381ValfsTer81
|
- | 3.5 |
|
B | |
| 18696 | chr22 | 20992365 | C | T |
c.1145C>T
|
p.Ser382Leu
|
3.0 |
|
B | ||
| 25320 | chr22 | 20992370 | GTA | G |
c.1149+2_1149+3del
|
p.?
|
- | 4.0 |
|
B | |
| 775 | chr22 | 20992819 | C | T |
c.1175C>T
|
p.Ala392Val
|
3.0 |
|
B | ||
| 8361 | chr22 | 20992861 | C | T |
c.1217C>T
|
p.Thr406Met
|
3.0 |
|
B | ||
| 8534 | chr22 | 20992879 | G | A |
c.1235G>A
|
p.Arg412His
|
3.0 |
|
B | ||
| 26134 | chr22 | 20992879 | G | T |
c.1235G>T
|
p.Arg412Leu
|
3.0 |
|
B | ||
| 33243 | chr22 | 20993659 | C | G |
c.1261-3C>G
|
-
|
3.0 |
|
B | ||
| 2155 | chr22 | 20993692 | G | T |
c.1291G>T
|
p.Glu431Ter
|
- | 4.5 |
|
B | |
| 6098 | chr22 | 20993738 | AGTTCGTGCTGG | A |
c.1340_1350del
|
p.Phe447Ter
|
- | 4.0 |
|
B | |
| 25214 | chr22 | 20993924 | AAGG | A |
c.1360_1362del
|
p.Glu454del
|
3.0 |
|
B | ||
| 4323 | chr22 | 20993930 | G | A |
c.1360G>A
|
p.Glu454Lys
|
3.0 |
|
B | ||
| 21735 | chr22 | 20994200 | G | A |
c.1546G>A
-
|
p.Ala516Thr
-
|
- | 3.0 |
|
B | |
| 19125 | chr22 | 20994924 | A | G |
c.1840A>G
-
|
p.Met614Val
-
|
3.0 |
|
B | ||
| 12543 | chr22 | 20994972 | C | T |
c.1888C>T
-
|
p.Arg630Trp
-
|
3.0 |
|
B |