Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22003 | chr7 | 13988735 | T | A |
c.45+273A>T
|
-
|
- | 3.0 |
|
B | |
| 35014 | chr7 | 13989050 | C | T |
c.3G>A
|
p.Met1?
|
- | 3.0 |
|
B | |
| 35407 | chr7 | 19700130 | G | A |
c.547C>T
|
p.Arg183Cys
|
3.0 |
|
B | ||
| 13799 | chr7 | 20141036 | T | G |
c.2469A>C
|
p.Lys823Asn
|
- | 3.0 |
|
B | |
| 17298 | chr7 | 20141054 | C | T |
c.2451G>A
|
p.Met817Ile
|
3.0 |
|
B | ||
| 31275 | chr7 | 20141156 | C | T |
c.2349G>A
|
p.Met783Ile
|
- | 3.0 |
|
B | |
| 30278 | chr7 | 20154212 | G | A |
c.2327C>T
|
p.Thr776Ile
|
- | 3.0 |
|
B | |
| 32699 | chr7 | 20154234 | C | T |
c.2305G>A
|
p.Glu769Lys
|
- | 3.0 |
|
B | |
| 32023 | chr7 | 20154312 | C | A |
c.2227G>T
|
p.Ala743Ser
|
- | 3.0 |
|
B | |
| 33020 | chr7 | 20158300 | G | T |
c.2061C>A
|
p.Asp687Glu
|
- | 3.0 |
|
B | |
| 15187 | chr7 | 20158326 | C | A |
c.2035G>T
|
p.Glu679Ter
|
- | 3.0 |
|
B | |
| 30279 | chr7 | 20158455 | G | A |
c.1906C>T
|
p.Leu636Phe
|
- | 3.0 |
|
B | |
| 30526 | chr7 | 20158511 | A | T |
c.1850T>A
|
p.Ile617Asn
|
- | 3.0 |
|
B | |
| 25370 | chr7 | 20158516 | C | G |
c.1845G>C
|
p.Lys615Asn
|
- | 3.0 |
|
B | |
| 25417 | chr7 | 20158617 | C | A |
c.1744G>T
|
p.Gly582Trp
|
- | 3.0 |
|
B | |
| 25541 | chr7 | 20158772 | G | A |
c.1589C>T
|
p.Ala530Val
|
- | 3.0 |
|
B | |
| 15664 | chr7 | 20158785 | C | T |
c.1576G>A
|
p.Glu526Lys
|
- | 3.0 |
|
B | |
| 18102 | chr7 | 20158945 | A | T |
c.1416T>A
|
p.Phe472Leu
|
- | 3.0 |
|
B | |
| 22325 | chr7 | 20159045 | G | A |
c.1316C>T
|
p.Ser439Phe
|
3.0 |
|
B | ||
| 27871 | chr7 | 20159135 | C | T |
c.1226G>A
|
p.Gly409Glu
|
- | 3.0 |
|
B |