Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31009 | chr7 | 78160031 | T | C |
c.2839A>G
|
p.Thr947Ala
|
3.0 |
|
B | ||
| 2446 | chr7 | 78160106 | C | A |
c.2764G>T
|
p.Val922Phe
|
- | 3.0 |
|
B | |
| 16059 | chr7 | 78160211 | G | A |
c.2659C>T
|
p.Arg887Cys
|
3.0 |
|
B | ||
| 5123 | chr7 | 78160261 | G | C |
c.2609C>G
|
p.Pro870Arg
|
- | 3.0 |
|
B | |
| 1296 | chr7 | 78167957 | C | T |
c.2555G>A
|
p.Gly852Glu
|
- | 3.0 |
|
B | |
| 5937 | chr7 | 78168059 | C | T |
c.2453G>A
|
p.Arg818His
|
3.0 |
|
B | ||
| 21452 | chr7 | 78168072 | C | T |
c.2440G>A
|
p.Asp814Asn
|
3.0 |
|
B | ||
| 20555 | chr7 | 78168128 | G | A |
c.2404-20C>T
|
-
|
- | 3.0 |
|
B | |
| 1727 | chr7 | 78178023 | C | A |
c.2391G>T
|
p.Glu797Asp
|
3.0 |
|
B | ||
| 2129 | chr7 | 78178050 | A | T |
c.2364T>A
|
p.Phe788Leu
|
- | 3.0 |
|
B | |
| 28302 | chr7 | 78185678 | G | T |
c.2270-8C>A
|
-
|
- | 3.0 |
|
B | |
| 9257 | chr7 | 78194931 | G | A |
c.2212C>T
|
p.Arg738Trp
|
3.0 |
|
B | ||
| 18580 | chr7 | 78201156 | A | G |
c.2079+6T>C
|
-
|
- | 3.0 |
|
B | |
| 14460 | chr7 | 78255993 | A | C |
c.1997T>G
|
p.Leu666Arg
|
- | 3.0 |
|
B | |
| 7585 | chr7 | 78256025 | C | A |
c.1965G>T
|
p.Gln655His
|
- | 3.0 |
|
B | |
| 18113 | chr7 | 78256057 | G | A |
c.1933C>T
|
p.Leu645Phe
|
- | 3.0 |
|
B | |
| 32373 | chr7 | 78256078 | G | A |
c.1912C>T
|
p.Pro638Ser
|
- | 3.0 |
|
B | |
| 6384 | chr7 | 78256188 | G | A |
c.1802C>T
|
p.Ala601Val
|
- | 3.0 |
|
B | |
| 20337 | chr7 | 78256252 | C | T |
c.1738G>A
|
p.Gly580Ser
|
3.0 |
|
B | ||
| 14200 | chr7 | 78256312 | C | T |
c.1678G>A
|
p.Asp560Asn
|
- | 3.0 |
|
B |