Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7369 | chr1 | 22896408 | C | T |
c.1701-6C>T
|
-
|
- | 3.0 |
|
B | |
| 16140 | chr1 | 22906049 | C | T |
c.1828C>T
|
p.Arg610Trp
|
3.0 |
|
B | ||
| 11136 | chr1 | 22906129 | A | C |
c.1888+20A>C
|
-
|
- | 3.0 |
|
B | |
| 5692 | chr1 | 22906917 | C | G |
c.2096C>G
|
p.Thr699Ser
|
- | 3.0 |
|
B | |
| 4090 | chr1 | 22908018 | G | A |
c.2202G>A
|
p.Met734Ile
|
- | 3.0 |
|
B | |
| 5933 | chr1 | 22908050 | G | A |
c.2234G>A
|
p.Arg745His
|
3.0 |
|
B | ||
| 2975 | chr1 | 22908121 | C | T |
c.2305C>T
|
p.Arg769Cys
|
3.0 |
|
B | ||
| 1600 | chr1 | 22909074 | A | G |
c.2405A>G
|
p.Lys802Arg
|
- | 3.0 |
|
B | |
| 8786 | chr1 | 22910482 | A | T |
c.2603A>T
|
p.Asn868Ile
|
- | 3.0 |
|
B | |
| 12695 | chr1 | 22913479 | G | A |
c.2870G>A
|
p.Gly957Glu
|
- | 3.0 |
|
B | |
| 10438 | chr1 | 22913501 | GA | G |
c.2899del
|
p.Ile967SerfsTer2
|
- | 3.0 |
|
B | |
| 10439 | chr1 | 22913752 | GA | G |
c.*191del
|
-
|
3.0 |
|
B | ||
| 11286 | chr1 | 22913762 | G | C |
c.*192G>C
|
-
|
- | 3.0 |
|
B | |
| 24964 | chr1 | 23559027 | G | C |
c.301-8C>G
|
-
|
3.0 |
|
B | ||
| 17187 | chr1 | 23559163 | G | A |
c.264C>T
|
p.Ala88=
|
- | 3.0 |
|
B | |
| 26500 | chr1 | 23559193 | G | A |
c.234C>T
|
p.Leu78=
|
3.0 |
|
B | ||
| 15076 | chr1 | 23559374 | G | A |
c.53C>T
|
p.Ser18Leu
|
3.0 |
|
B | ||
| 19165 | chr1 | 24902148 | C | T |
c.1222G>A
|
p.Asp408Asn
|
- | 3.0 |
|
B | |
| 8155 | chr1 | 24902397 | C | T |
c.973G>A
|
p.Ala325Thr
|
- | 3.0 |
|
B | |
| 554 | chr1 | 24902529 | T | A |
c.841A>T
|
p.Ser281Cys
|
- | 3.0 |
|
B |