Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25396 | chr1 | 241519695 | G | A |
c.28C>T
|
p.Arg10Cys
|
3.0 |
|
B | ||
| 28296 | chr1 | 241519701 | G | A |
c.22C>T
|
p.Leu8Phe
|
- | 3.0 |
|
B | |
| 11239 | chr1 | 242100801 | G | A |
c.1240-19C>T
|
-
|
3.0 |
|
B | ||
| 13447 | chr1 | 243505254 | C | T |
c.1435G>A
|
p.Glu479Lys
|
- | 3.0 |
|
B | |
| 7346 | chr1 | 243505274 | G | T |
c.1415C>A
|
p.Ser472Tyr
|
- | 3.0 |
|
B | |
| 13448 | chr1 | 243505335 | C | A |
c.1355-1G>T
|
p.?
|
- | 3.0 |
|
B | |
| 32972 | chr1 | 243545549 | G | C |
c.1212C>G
|
p.Phe404Leu
|
- | 3.0 |
|
B | |
| 18374 | chr1 | 243552730 | G | A |
c.1162C>T
|
p.Arg388Cys
|
- | 3.0 |
|
B | |
| 14586 | chr1 | 243552952 | G | A |
c.949-9C>T
|
-
|
- | 3.0 |
|
B | |
| 7554 | chr1 | 243563812 | T | G |
c.856A>C
|
p.Lys286Gln
|
- | 3.0 |
|
B | |
| 15979 | chr1 | 243563830 | C | A |
c.838G>T
|
p.Asp280Tyr
|
- | 3.0 |
|
B | |
| 12124 | chr1 | 243572952 | C | T |
c.793G>A
|
p.Gly265Arg
|
3.0 |
|
B | ||
| 25901 | chr1 | 243573005 | C | T |
c.740G>A
|
p.Arg247His
|
- | 3.0 |
|
B | |
| 5321 | chr1 | 243613738 | G | T |
c.629C>A
|
p.Ser210Tyr
|
- | 3.0 |
|
B | |
| 5641 | chr1 | 243637695 | A | C |
c.477T>G
|
p.Phe159Leu
|
- | 3.0 |
|
B | |
| 19373 | chr1 | 243645873 | A | G |
c.429+20T>C
|
-
|
- | 3.0 |
|
B | |
| 19292 | chr1 | 243645920 | A | C |
c.402T>G
|
p.Asp134Glu
|
- | 3.0 |
|
B | |
| 28379 | chr1 | 243645958 | T | C |
c.364A>G
|
p.Thr122Ala
|
3.0 |
|
B | ||
| 18378 | chr1 | 243695611 | A | C |
c.152T>G
|
p.Leu51Arg
|
3.0 |
|
B | ||
| 115 | chr1 | 243695714 | C | T |
c.49G>A
|
p.Glu17Lys
|
4.5 |
|
A |