Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32793 | chr1 | 201048609 | G | A |
c.4414C>T
|
p.Arg1472Cys
|
2.5 |
|
B | ||
| 28797 | chr1 | 201050387 | A | C |
c.4241+2T>G
|
p.?
|
- | 3.0 |
|
B | |
| 30949 | chr1 | 201051057 | C | A |
c.4040G>T
|
p.Gly1347Val
|
2.0 |
|
B | ||
| 17981 | chr1 | 201053283 | C | G |
c.3796-9G>C
|
-
|
- | 2.5 |
|
B | |
| 22612 | chr1 | 201053441 | C | T |
c.3795+18G>A
|
-
|
- | 3.0 |
|
B | |
| 12249 | chr1 | 201053497 | C | T |
c.3757G>A
|
p.Val1253Met
|
- | 3.0 |
|
B | |
| 21743 | chr1 | 201054542 | C | T |
c.3629G>A
|
p.Gly1210Glu
|
3.0 |
|
B | ||
| 34324 | chr1 | 201058499 | G | A |
c.3526-8C>T
|
-
|
- | 3.0 |
|
B | |
| 27632 | chr1 | 201058500 | G | A |
c.3526-9C>T
|
-
|
- | 3.0 |
|
B | |
| 14269 | chr1 | 201059178 | C | T |
c.3525+11G>A
|
-
|
- | 3.0 |
|
B | |
| 27404 | chr1 | 201061433 | T | C |
c.3089A>G
|
p.Asp1030Gly
|
- | 3.0 |
|
B | |
| 26324 | chr1 | 201061445 | G | A |
c.3077C>T
|
p.Ser1026Phe
|
- | 3.0 |
|
B | |
| 17847 | chr1 | 201061487 | G | C |
c.3054-19C>G
|
-
|
- | 3.0 |
|
B | |
| 14174 | chr1 | 201062065 | C | T |
c.2932G>A
|
p.Gly978Arg
|
3.0 |
|
B | ||
| 32919 | chr1 | 201062096 | G | A |
c.2907-6C>T
|
-
|
- | 3.0 |
|
B | |
| 12149 | chr1 | 201062104 | G | A |
c.2907-14C>T
|
-
|
- | 3.0 |
|
B | |
| 18954 | chr1 | 201065820 | G | A |
c.2853+18C>T
|
-
|
2.5 |
|
B | ||
| 22115 | chr1 | 201065821 | C | T |
c.2853+17G>A
|
-
|
2.5 |
|
B | ||
| 13631 | chr1 | 201065943 | G | A |
c.2748C>T
|
p.His916=
|
1.0 |
|
B | ||
| 25037 | chr1 | 201066899 | G | A |
c.2645C>T
|
p.Ser882Phe
|
3.0 |
|
B |