Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35150 | chr1 | 97234917 | T | A |
c.2377A>T
|
p.Thr793Ser
|
- | 3.0 |
|
B | |
| 27848 | chr1 | 97234947 | G | A |
c.2347C>T
|
p.Arg783Cys
|
3.0 |
|
B | ||
| 9374 | chr1 | 97234958 | G | T |
c.2336C>A
|
p.Thr779Asn
|
3.0 |
|
B | ||
| 22686 | chr1 | 97234974 | C | A |
c.2320G>T
|
p.Ala774Ser
|
- | 3.0 |
|
B | |
| 5802 | chr1 | 97305305 | C | G |
c.2253G>C
|
p.Trp751Cys
|
- | 3.0 |
|
B | |
| 27058 | chr1 | 97306207 | T | A |
c.2149A>T
|
p.Ile717Phe
|
- | 3.0 |
|
B | |
| 4979 | chr1 | 97306243 | G | A |
c.2113C>T
|
p.Pro705Ser
|
- | 3.0 |
|
B | |
| 17155 | chr1 | 97306244 | A | C |
c.2112T>G
|
p.Ile704Met
|
- | 3.0 |
|
B | |
| 24522 | chr1 | 97306281 | C | T |
c.2075G>A
|
p.Arg692Gln
|
3.0 |
|
B | ||
| 17753 | chr1 | 97373610 | G | A |
c.2009C>T
|
p.Ser670Leu
|
- | 3.0 |
|
B | |
| 25411 | chr1 | 97382471 | G | A |
c.1906-10C>T
|
-
|
3.0 |
|
B | ||
| 2300 | chr1 | 97450077 | C | G |
c.1887G>C
|
p.Lys629Asn
|
- | 3.0 |
|
B | |
| 10578 | chr1 | 97450094 | T | C |
c.1870A>G
|
p.Ser624Gly
|
- | 3.0 |
|
B | |
| 32225 | chr1 | 97450189 | C | T |
c.1775G>A
|
p.Arg592Gln
|
3.0 |
|
B | ||
| 18538 | chr1 | 97450195 | A | T |
c.1769T>A
|
p.Ile590Asn
|
- | 3.0 |
|
B | |
| 30566 | chr1 | 97515766 | C | T |
c.1700G>A
|
p.Gly567Glu
|
3.0 |
|
B | ||
| 14515 | chr1 | 97515851 | C | A |
c.1615G>T
|
p.Gly539Ter
|
- | 3.0 |
|
B | |
| 21206 | chr1 | 97549597 | C | T |
c.1487G>A
|
p.Gly496Glu
|
- | 3.0 |
|
B | |
| 26626 | chr1 | 97549613 | C | A |
c.1471G>T
|
p.Glu491Ter
|
- | 3.0 |
|
B | |
| 8491 | chr1 | 97549613 | C | T |
c.1471G>A
|
p.Glu491Lys
|
- | 3.0 |
|
B |