Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 23447 | chr2 | 178730607 | A | T |
c.17926T>A
|
p.Leu5976Met
|
- | 3.0 |
|
B | |
| 30978 | chr2 | 178730795 | A | G |
c.17741-3T>C
|
-
|
3.0 |
|
B | ||
| 30952 | chr2 | 178731045 | T | A |
c.17620A>T
|
p.Thr5874Ser
|
- | 3.0 |
|
B | |
| 21211 | chr2 | 178731080 | T | A |
c.17585A>T
|
p.Glu5862Val
|
3.0 |
|
B | ||
| 14628 | chr2 | 178731155 | C | T |
c.17510G>A
|
p.Gly5837Glu
|
- | 3.0 |
|
B | |
| 23220 | chr2 | 178731222 | T | C |
c.17462-19A>G
|
-
|
- | 3.0 |
|
B | |
| 32453 | chr2 | 178731464 | C | T |
c.17302G>A
|
p.Asp5768Asn
|
2.5 |
|
B | ||
| 14185 | chr2 | 178731544 | G | A |
c.17222C>T
|
p.Ser5741Phe
|
- | 3.0 |
|
B | |
| 28682 | chr2 | 178731759 | C | T |
c.17116G>A
|
p.Glu5706Lys
|
2.5 |
|
B | ||
| 15560 | chr2 | 178731786 | G | A |
c.17089C>T
|
p.Leu5697Phe
|
- | 3.0 |
|
B | |
| 8327 | chr2 | 178731876 | C | G |
c.16999G>C
|
p.Glu5667Gln
|
- | 3.0 |
|
B | |
| 27862 | chr2 | 178731902 | G | A |
c.16973C>T
|
p.Ala5658Val
|
- | 3.0 |
|
B | |
| 3523 | chr2 | 178731918 | C | T |
c.16957G>A
|
p.Asp5653Asn
|
3.0 |
|
B | ||
| 26955 | chr2 | 178731951 | C | T |
c.16924G>A
|
p.Glu5642Lys
|
3.0 |
|
B | ||
| 18387 | chr2 | 178732066 | C | T |
c.16903G>A
|
p.Glu5635Lys
|
3.0 |
|
B | ||
| 23994 | chr2 | 178732126 | TATATTC | T |
c.16837_16842del
|
p.Glu5613_Tyr5614del
|
- | 3.0 |
|
B | |
| 17003 | chr2 | 178732194 | A | G |
c.16775T>C
|
p.Met5592Thr
|
- | 3.0 |
|
B | |
| 34847 | chr2 | 178732254 | G | T |
c.16715C>A
|
p.Pro5572Gln
|
- | 3.0 |
|
B | |
| 30979 | chr2 | 178732472 | C | G |
c.16589G>C
|
p.Gly5530Ala
|
- | 3.0 |
|
B | |
| 29519 | chr2 | 178732683 | C | T |
c.16378G>A
|
p.Asp5460Asn
|
3.0 |
|
B |