Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27580 | chr2 | 211673187 | C | A |
c.1693G>T
|
p.Gly565Cys
|
- | 3.0 |
|
B | |
| 25940 | chr2 | 211673202 | C | T |
c.1678G>A
|
p.Glu560Lys
|
- | 3.0 |
|
B | |
| 22277 | chr2 | 211673214 | C | T |
c.1666G>A
|
p.Asp556Asn
|
- | 3.0 |
|
B | |
| 23716 | chr2 | 211673262 | G | A |
c.1623-5C>T
|
-
|
2.0 |
|
B | ||
| 1722 | chr2 | 211679044 | A | T |
c.1622+8T>A
|
-
|
- | 3.0 |
|
B | |
| 2901 | chr2 | 211679103 | C | T |
c.1571G>A
|
p.Arg524His
|
2.5 |
|
B | ||
| 11516 | chr2 | 211679104 | G | A |
c.1570C>T
|
p.Arg524Cys
|
3.0 |
|
B | ||
| 30176 | chr2 | 211679124 | G | A |
c.1550C>T
|
p.Pro517Leu
|
3.0 |
|
B | ||
| 11306 | chr2 | 211679134 | C | A |
c.1540G>T
|
p.Gly514Ter
|
- | 3.0 |
|
B | |
| 820 | chr2 | 211679157 | A | G |
c.1517T>C
|
p.Leu506Pro
|
- | 3.0 |
|
B | |
| 7657 | chr2 | 211679184 | G | T |
c.1490C>A
|
p.Thr497Asn
|
- | 3.0 |
|
B | |
| 149 | chr2 | 211702102 | C | T |
c.1354G>A
|
p.Glu452Lys
|
4.0 |
|
B | ||
| 6245 | chr2 | 211704116 | C | T |
c.1277G>A
|
p.Arg426Lys
|
3.0 |
|
B | ||
| 8809 | chr2 | 211705342 | A | C |
c.1174T>G
|
p.Phe392Val
|
- | 3.0 |
|
B | |
| 22845 | chr2 | 211705369 | C | T |
c.1147G>A
|
p.Ala383Thr
|
- | 3.0 |
|
B | |
| 22278 | chr2 | 211705390 | C | T |
c.1126G>A
|
p.Asp376Asn
|
- | 3.0 |
|
B | |
| 23453 | chr2 | 211712095 | G | T |
c.1079C>A
|
p.Thr360Asn
|
- | 3.0 |
|
B | |
| 23856 | chr2 | 211712145 | C | A |
c.1029G>T
|
p.Met343Ile
|
- | 3.0 |
|
B | |
| 32551 | chr2 | 211713583 | C | A |
c.949G>T
|
p.Glu317Ter
|
- | 3.0 |
|
B | |
| 14560 | chr2 | 211713606 | G | A |
c.926C>T
|
p.Pro309Leu
|
- | 3.0 |
|
B |