Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18091 | chr5 | 1266546 | G | A |
c.2583-11C>T
|
-
|
- | 3.0 |
|
B | |
| 8198 | chr5 | 1268606 | C | T |
c.2496G>A
|
p.Pro832=
|
2.0 |
|
B | ||
| 10957 | chr5 | 1268637 | G | A |
c.2469-4C>T
|
-
|
- | 3.0 |
|
B | |
| 16203 | chr5 | 1268641 | G | A |
c.2469-8C>T
|
-
|
2.0 |
|
B | ||
| 14538 | chr5 | 1271156 | G | A |
c.2431C>T
|
p.Arg811Cys
|
3.0 |
|
B | ||
| 29464 | chr5 | 1271200 | G | A |
c.2387C>T
|
p.Ser796Phe
|
3.0 |
|
B | ||
| 1861 | chr5 | 1272201 | G | C |
c.2366C>G
|
p.Ala789Gly
|
- | 3.0 |
|
B | |
| 7256 | chr5 | 1272220 | T | C |
c.2347A>G
|
p.Thr783Ala
|
- | 3.0 |
|
B | |
| 22646 | chr5 | 1272246 | C | T |
c.2321G>A
|
p.Arg774Gln
|
3.0 |
|
B | ||
| 21652 | chr5 | 1272284 | C | A |
c.2287-4G>T
|
-
|
- | 3.0 |
|
B | |
| 31897 | chr5 | 1278647 | C | A |
c.2280G>T
|
p.Lys760Asn
|
- | 3.0 |
|
B | |
| 23044 | chr5 | 1278724 | G | GT |
c.2202dup
|
p.Pro735ThrfsTer66
|
- | 3.0 |
|
B | |
| 34198 | chr5 | 1279314 | G | T |
c.2107C>A
|
p.Pro703Thr
|
- | 3.0 |
|
B | |
| 17774 | chr5 | 1279320 | C | T |
c.2101G>A
|
p.Asp701Asn
|
- | 3.0 |
|
B | |
| 1716 | chr5 | 1279329 | G | A |
c.2092C>T
|
p.Arg698Trp
|
3.0 |
|
B | ||
| 8210 | chr5 | 1279368 | C | T |
c.2053G>A
|
p.Asp685Asn
|
3.0 |
|
B | ||
| 28054 | chr5 | 1279412 | G | A |
c.2009C>T
|
p.Ala670Val
|
2.0 |
|
B | ||
| 27774 | chr5 | 1279475 | C | T |
c.1951-5G>A
|
-
|
2.0 |
|
B | ||
| 23916 | chr5 | 1282541 | C | T |
c.1657G>A
|
p.Val553Ile
|
3.0 |
|
B | ||
| 32094 | chr5 | 1293310 | C | T |
c.1573+3G>A
|
-
|
3.0 |
|
B |