Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34568 | chr2 | 178804596 | A | G |
c.47T>C
|
p.Val16Ala
|
- | 3.0 |
|
B | |
| 21025 | chr2 | 178804610 | C | T |
c.33G>A
|
p.Pro11=
|
2.0 |
|
B | ||
| 22716 | chr2 | 178804611 | G | T |
c.32C>A
|
p.Pro11Gln
|
- | 3.0 |
|
B | |
| 4050 | chr2 | 181475055 | G | A |
c.415G>A
|
p.Gly139Arg
|
- | 3.0 |
|
B | |
| 4818 | chr2 | 182741284 | T | TTTCCAAAA |
c.1119_1120insTTCCAAAA
|
p.Gly374PhefsTer14
|
- | 3.0 |
|
B | |
| 34502 | chr2 | 182866316 | G | T |
c.237C>A
|
p.His79Gln
|
- | 3.0 |
|
B | |
| 4640 | chr2 | 182962281 | G | A |
c.1762-3C>T
|
-
|
- | 3.0 |
|
B | |
| 4440 | chr2 | 185804166 | T | C |
c.14860T>C
|
p.Ser4954Pro
|
3.0 |
|
B | ||
| 15486 | chr2 | 188974479 | G | C |
c.-11G>C
|
-
|
- | 3.0 |
|
B | |
| 30083 | chr2 | 188974562 | C | T |
c.73C>T
|
p.Gln25Ter
|
- | 3.0 |
|
B | |
| 16580 | chr2 | 188974582 | G | A |
c.79+14G>A
|
-
|
- | 3.0 |
|
B | |
| 16315 | chr2 | 188984805 | G | C |
c.125G>C
|
p.Arg42Thr
|
3.0 |
|
B | ||
| 9339 | chr2 | 188984867 | G | A |
c.187G>A
|
p.Asp63Asn
|
3.0 |
|
B | ||
| 31207 | chr2 | 188984919 | C | T |
c.239C>T
|
p.Pro80Leu
|
- | 3.0 |
|
B | |
| 10496 | chr2 | 188985177 | G | T |
c.283-20G>T
|
-
|
- | 3.0 |
|
B | |
| 26327 | chr2 | 188985185 | T | C |
c.283-12T>C
|
-
|
- | 3.0 |
|
B | |
| 7755 | chr2 | 188985236 | A | T |
c.322A>T
|
p.Lys108Ter
|
- | 3.0 |
|
B | |
| 14187 | chr2 | 188985654 | C | G |
c.334-11C>G
|
-
|
3.0 |
|
B | ||
| 8446 | chr2 | 188985725 | C | T |
c.394C>T
|
p.Pro132Ser
|
3.0 |
|
B | ||
| 9449 | chr2 | 188985744 | C | A |
c.413C>A
|
p.Pro138His
|
- | 3.0 |
|
B |