Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30750 | chr1 | 237783995 | G | A |
c.12283G>A
|
p.Gly4095Ser
|
3.0 |
|
B | ||
| 21695 | chr1 | 237784004 | G | A |
c.12292G>A
|
p.Val4098Ile
|
3.0 |
|
B | ||
| 17362 | chr1 | 237784052 | C | T |
c.12340C>T
|
p.Arg4114Ter
|
3.0 |
|
B | ||
| 12555 | chr1 | 237784053 | G | A |
c.12341G>A
|
p.Arg4114Gln
|
3.0 |
|
B | ||
| 13244 | chr1 | 237784116 | G | A |
c.12404G>A
|
p.Arg4135His
|
3.0 |
|
B | ||
| 8290 | chr1 | 237784148 | G | A |
c.12436G>A
|
p.Glu4146Lys
|
3.0 |
|
B | ||
| 28068 | chr1 | 237784181 | C | T |
c.12469C>T
|
p.Arg4157Ter
|
3.0 |
|
B | ||
| 33055 | chr1 | 237784202 | C | T |
c.12490C>T
|
p.Gln4164Ter
|
- | 3.0 |
|
B | |
| 31750 | chr1 | 237784256 | G | T |
c.12544G>T
|
p.Glu4182Ter
|
- | 3.0 |
|
B | |
| 33717 | chr1 | 237784330 | C | G |
c.12618C>G
|
p.Ile4206Met
|
- | 3.0 |
|
B | |
| 31346 | chr1 | 237784479 | T | C |
c.12767T>C
|
p.Met4256Thr
|
3.0 |
|
B | ||
| 33784 | chr1 | 237784502 | C | A |
c.12790C>A
|
p.Leu4264Met
|
- | 3.0 |
|
B | |
| 33269 | chr1 | 237784531 | G | C |
c.12819G>C
|
p.Lys4273Asn
|
- | 3.0 |
|
B | |
| 28515 | chr1 | 237784604 | G | A |
c.12892G>A
|
p.Val4298Met
|
3.0 |
|
B | ||
| 13620 | chr1 | 237784613 | G | A |
c.12901G>A
|
p.Val4301Ile
|
3.0 |
|
B | ||
| 32642 | chr1 | 237784631 | C | T |
c.12919C>T
|
p.Arg4307Cys
|
2.0 |
|
B | ||
| 21572 | chr1 | 237784644 | GC | G |
c.12934del
|
p.Leu4312CysfsTer20
|
- | 3.0 |
|
B | |
| 21573 | chr1 | 237784646 | C | G |
c.12934C>G
|
p.Leu4312Val
|
- | 3.0 |
|
B | |
| 33997 | chr1 | 237784931 | A | T |
c.13219A>T
|
p.Ser4407Cys
|
- | 3.0 |
|
B | |
| 8282 | chr1 | 237784933 | C | A |
c.13221C>A
|
p.Ser4407Arg
|
- | 3.0 |
|
B |