Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5184 | chr7 | 142094467 | G | A |
c.7276G>A
|
p.Ala2426Thr
|
3.0 |
|
B | ||
| 4500 | chr7 | 142321280 | C | T |
c.79C>T
|
p.Pro27Ser
|
- | 3.0 |
|
B | |
| 12654 | chr7 | 142750558 | C | G |
c.44C>G
|
p.Ala15Gly
|
1.0 |
|
B | ||
| 31699 | chr7 | 142750731 | C | T |
c.200+17C>T
|
-
|
2.0 |
|
B | ||
| 22805 | chr7 | 142751775 | C | T |
c.202C>T
|
p.Arg68Cys
|
1.5 |
|
B | ||
| 2309 | chr7 | 142751781 | C | A |
c.208C>A
|
p.Gln70Lys
|
- | 3.0 |
|
B | |
| 15727 | chr7 | 142751937 | C | A |
c.364C>A
|
p.Arg122Ser
|
- | 3.0 |
|
B | |
| 9154 | chr7 | 142751983 | C | T |
c.410C>T
|
p.Thr137Met
|
2.0 |
|
B | ||
| 19199 | chr7 | 142751984 | GA | TG |
c.411_412delinsTG
|
p.Lys138Glu
|
- | 3.0 |
|
B | |
| 2599 | chr7 | 142752016 | C | T |
c.443C>T
|
p.Ala148Val
|
3.0 |
|
B | ||
| 26075 | chr7 | 142752417 | C | T |
c.455-14C>T
|
-
|
3.0 |
|
B | ||
| 23240 | chr7 | 142752423 | C | A |
c.455-8C>A
|
-
|
- | 3.0 |
|
B | |
| 12731 | chr7 | 142752423 | C | T |
c.455-8C>T
|
-
|
- | 3.0 |
|
B | |
| 24562 | chr7 | 142752440 | C | T |
c.464C>T
|
p.Pro155Leu
|
- | 3.0 |
|
B | |
| 28212 | chr7 | 142752445 | G | A |
c.469G>A
|
p.Glu157Lys
|
3.0 |
|
B | ||
| 2046 | chr7 | 142752452 | A | T |
c.476A>T
|
p.Gln159Leu
|
- | 3.0 |
|
B | |
| 35683 | chr7 | 142752463 | G | T |
c.487G>T
|
p.Ala163Ser
|
- | 3.0 |
|
B | |
| 29703 | chr7 | 142752472 | C | A |
c.496C>A
|
p.Leu166Met
|
- | 3.0 |
|
B | |
| 9402 | chr7 | 142752502 | C | A |
c.526C>A
|
p.Pro176Thr
|
- | 3.0 |
|
B | |
| 26542 | chr7 | 142752510 | G | T |
c.534G>T
|
p.Lys178Asn
|
3.0 |
|
B |