Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 27572 | chr7 | 148809078 | C | T |
c.2188G>A
|
p.Asp730Asn
|
- | 3.0 |
|
B | |
| 15451 | chr7 | 148809307 | T | TC |
c.2110+2_2110+3insG
|
-
|
- | 3.0 |
|
B | |
| 69 | chr7 | 148809336 | G | A |
c.2084C>T
|
p.Ser695Leu
|
- | 4.0 |
|
B | |
| 68 | chr7 | 148809351 | C | T |
c.2069G>A
|
p.Arg690His
|
4.0 |
|
B | ||
| 16915 | chr7 | 148809367 | T | G |
c.2053A>C
|
p.Lys685Gln
|
- | 3.0 |
|
B | |
| 67 | chr7 | 148809370 | G | A |
c.2050C>T
|
p.Arg684Cys
|
4.0 |
|
B | ||
| 66 | chr7 | 148809375 | G | A |
c.2045C>T
|
p.Ala682Val
|
- | 3.0 |
|
B | |
| 65 | chr7 | 148809375 | G | C |
c.2045C>G
|
p.Ala682Gly
|
4.0 |
|
A | ||
| 5701 | chr7 | 148810358 | G | C |
c.2004C>G
|
p.Cys668Trp
|
- | 3.0 |
|
B | |
| 64 | chr7 | 148810389 | C | G |
c.1973G>C
|
p.Arg658Thr
|
- | 3.0 |
|
B | |
| 18586 | chr7 | 148810421 | A | C |
c.1948-7T>G
|
-
|
- | 3.0 |
|
B | |
| 32461 | chr7 | 148810433 | G | A |
c.1948-19C>T
|
-
|
- | 3.0 |
|
B | |
| 60 | chr7 | 148811635 | T | A |
c.1937A>T
|
p.Tyr646Phe
|
4.0 |
|
B | ||
| 23773 | chr7 | 148811636 | A | G |
c.1936T>C
|
p.Tyr646His
|
4.0 |
|
B | ||
| 23721 | chr7 | 148811636 | A | T |
c.1936T>A
|
p.Tyr646Asn
|
5.0 |
|
B | ||
| 63 | chr7 | 148811696 | C | T |
c.1876G>A
|
p.Val626Met
|
4.0 |
|
B | ||
| 18642 | chr7 | 148811724 | G | C |
c.1852-4C>G
|
-
|
- | 2.0 |
|
B | |
| 8030 | chr7 | 148813972 | C | T |
c.1838G>A
|
p.Arg613Gln
|
3.0 |
|
B | ||
| 23208 | chr7 | 148814958 | A | G |
c.1628T>C
|
p.Ile543Thr
|
- | 3.0 |
|
B | |
| 31177 | chr7 | 148815515 | G | T |
c.1537C>A
|
p.Leu513Met
|
- | 3.0 |
|
B |