Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26088 | chr7 | 20643601 | T | C |
c.647T>C
|
p.Leu216Pro
|
3.0 |
|
B | ||
| 20960 | chr7 | 20645870 | G | A |
c.793G>A
|
p.Glu265Lys
|
- | 3.0 |
|
B | |
| 24867 | chr7 | 20646043 | T | G |
c.886T>G
|
p.Phe296Val
|
- | 3.0 |
|
B | |
| 22498 | chr7 | 20647535 | G | T |
c.982G>T
|
p.Val328Phe
|
- | 3.0 |
|
B | |
| 21387 | chr7 | 20647664 | G | T |
c.1095+16G>T
|
-
|
- | 3.0 |
|
B | |
| 21787 | chr7 | 20648095 | T | G |
c.1206+17T>G
|
-
|
3.0 |
|
B | ||
| 13276 | chr7 | 20651451 | T | G |
c.1364T>G
|
p.Leu455Ter
|
- | 3.0 |
|
B | |
| 18103 | chr7 | 20651468 | C | T |
c.1381C>T
|
p.Arg461Ter
|
3.0 |
|
B | ||
| 13277 | chr7 | 20651497 | G | C |
c.1410G>C
|
p.Glu470Asp
|
- | 3.0 |
|
B | |
| 23051 | chr7 | 20651595 | C | T |
c.1508C>T
|
p.Ala503Val
|
3.0 |
|
B | ||
| 7297 | chr7 | 20658569 | G | A |
c.1600G>A
|
p.Ala534Thr
|
3.0 |
|
B | ||
| 32830 | chr7 | 20658623 | A | T |
c.1654A>T
|
p.Thr552Ser
|
- | 3.0 |
|
B | |
| 13608 | chr7 | 20658693 | G | A |
c.1707+17G>A
|
-
|
3.0 |
|
B | ||
| 28699 | chr7 | 20666767 | A | T |
c.1707+8091A>T
|
-
|
- | 3.0 |
|
B | |
| 33283 | chr7 | 20681506 | C | T |
c.1709C>T
|
p.Ala570Val
|
3.0 |
|
B | ||
| 11163 | chr7 | 20681518 | G | A |
c.1721G>A
|
p.Arg574Gln
|
3.0 |
|
B | ||
| 18104 | chr7 | 20681635 | G | A |
c.1838G>A
|
p.Arg613Gln
|
3.0 |
|
B | ||
| 17300 | chr7 | 20685714 | G | A |
c.1888G>A
|
p.Glu630Lys
|
- | 3.0 |
|
B | |
| 28827 | chr7 | 20685792 | T | C |
c.1966T>C
|
p.Ser656Pro
|
3.0 |
|
B | ||
| 24277 | chr7 | 20698554 | A | C |
c.2154+4A>C
|
-
|
- | 3.0 |
|
B |