Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27316 | chr4 | 20525152 | A | G |
c.1442A>G
|
p.Lys481Arg
|
- | 3.0 |
|
B | |
| 14191 | chr4 | 20528964 | G | A |
c.1478G>A
|
p.Arg493Gln
|
3.0 |
|
B | ||
| 2792 | chr4 | 20528985 | G | T |
c.1499G>T
|
p.Cys500Phe
|
- | 3.0 |
|
B | |
| 17838 | chr4 | 20532009 | G | A |
c.1639G>A
|
p.Val547Met
|
3.0 |
|
B | ||
| 33100 | chr4 | 20533577 | T | A |
c.1694T>A
|
p.Phe565Tyr
|
- | 3.0 |
|
B | |
| 13505 | chr4 | 20533627 | T | A |
c.1744T>A
|
p.Ser582Thr
|
- | 3.0 |
|
B | |
| 6940 | chr4 | 20533711 | A | G |
c.1828A>G
|
p.Thr610Ala
|
- | 3.0 |
|
B | |
| 14450 | chr4 | 20539429 | T | C |
c.1833-12T>C
|
-
|
- | 3.0 |
|
B | |
| 27461 | chr4 | 20539433 | C | T |
c.1833-8C>T
|
-
|
- | 3.0 |
|
B | |
| 34275 | chr4 | 20539455 | A | G |
c.1847A>G
|
p.Asn616Ser
|
- | 3.0 |
|
B | |
| 13658 | chr4 | 20539505 | C | T |
c.1897C>T
|
p.Arg633Cys
|
3.0 |
|
B | ||
| 24972 | chr4 | 20539506 | G | C |
c.1898G>C
|
p.Arg633Pro
|
- | 3.0 |
|
B | |
| 10760 | chr4 | 20541494 | C | T |
c.2018C>T
|
p.Ala673Val
|
- | 3.0 |
|
B | |
| 6108 | chr4 | 20541623 | A | T |
c.2143+4A>T
|
-
|
- | 3.0 |
|
B | |
| 33739 | chr4 | 20542486 | C | T |
c.2144-8C>T
|
-
|
2.0 |
|
B | ||
| 5863 | chr4 | 20542517 | C | A |
c.2167C>A
|
p.Pro723Thr
|
- | 3.0 |
|
B | |
| 3848 | chr4 | 20549074 | G | A |
c.2435G>A
|
p.Arg812His
|
3.0 |
|
B | ||
| 4040 | chr4 | 20549088 | C | T |
c.2449C>T
|
p.Pro817Ser
|
- | 3.0 |
|
B | |
| 10268 | chr4 | 20550820 | C | T |
c.2490-7C>T
|
-
|
3.0 |
|
B | ||
| 15710 | chr4 | 20553796 | T | G |
c.2562-9T>G
|
-
|
- | 3.0 |
|
B |