Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 13067 | chr8 | 70163479 | C | T |
c.818G>A
|
p.Arg273His
|
3.0 |
|
B | ||
| 24396 | chr8 | 70166719 | G | A |
c.577C>T
|
p.Arg193Trp
|
3.0 |
|
B | ||
| 13588 | chr8 | 76706237 | C | T |
c.2149C>T
|
p.His717Tyr
|
- | 3.0 |
|
B | |
| 23499 | chr8 | 79765379 | G | T |
c.724C>A
|
p.Pro242Thr
|
- | 3.0 |
|
B | |
| 25436 | chr8 | 79765393 | A | C |
c.710T>G
|
p.Leu237Arg
|
- | 3.0 |
|
B | |
| 13844 | chr8 | 79765528 | T | A |
c.575A>T
|
p.His192Leu
|
- | 3.0 |
|
B | |
| 25672 | chr8 | 79765717 | T | A |
c.386A>T
|
p.Glu129Val
|
- | 3.0 |
|
B | |
| 13190 | chr8 | 79766641 | G | A |
c.331+10C>T
|
-
|
3.0 |
|
B | ||
| 21863 | chr8 | 79767216 | C | G |
c.165+3G>C
|
-
|
- | 3.0 |
|
B | |
| 24758 | chr8 | 79767607 | G | A |
c.57C>T
|
p.Ile19=
|
3.0 |
|
B | ||
| 28993 | chr8 | 86866535 | A | G |
c.40A>G
|
p.Met14Val
|
3.0 |
|
B | ||
| 21624 | chr8 | 86887602 | G | A |
c.149G>A
|
p.Gly50Glu
|
3.0 |
|
B | ||
| 15438 | chr8 | 86905151 | C | T |
c.229C>T
|
p.Gln77Ter
|
- | 3.0 |
|
B | |
| 25631 | chr8 | 86905207 | T | C |
c.272+13T>C
|
-
|
- | 3.0 |
|
B | |
| 23651 | chr8 | 87206111 | T | C |
c.550T>C
|
p.Ser184Pro
|
- | 3.0 |
|
B | |
| 32282 | chr8 | 87206124 | T | G |
c.563T>G
|
p.Leu188Trp
|
3.0 |
|
B | ||
| 30487 | chr8 | 87236963 | C | T |
c.622C>T
|
p.Arg208Ter
|
3.0 |
|
B | ||
| 18124 | chr8 | 87237000 | G | A |
c.659G>A
|
p.Gly220Glu
|
3.0 |
|
B | ||
| 24846 | chr8 | 87237015 | A | C |
c.674A>C
|
p.Asp225Ala
|
- | 3.0 |
|
B | |
| 15970 | chr8 | 87237130 | G | A |
c.771+18G>A
|
-
|
- | 3.0 |
|
B |