Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18238 | chr7 | 105550506 | G | C |
c.1333+20G>C
|
-
|
- | 3.0 |
|
B | |
| 30130 | chr7 | 105551617 | G | A |
c.1381G>A
|
p.Val461Ile
|
- | 3.0 |
|
B | |
| 17870 | chr7 | 105555035 | T | A |
c.1479T>A
|
p.Tyr493Ter
|
- | 3.5 |
|
B | |
| 13841 | chr7 | 105555120 | CAAGTGAT | C |
c.1565_1571del
|
p.Gln522ArgfsTer20
|
- | 3.0 |
|
B | |
| 17741 | chr7 | 105555194 | C | G |
c.1638C>G
|
p.Ile546Met
|
- | 3.0 |
|
B | |
| 32495 | chr7 | 105555227 | T | C |
c.1671T>C
|
p.Val557=
|
- | 3.0 |
|
B | |
| 19003 | chr7 | 105563934 | T | C |
c.1873T>C
-
|
p.Tyr625His
-
|
- | 3.0 |
|
B | |
| 21694 | chr7 | 105565549 | T | G |
c.2087T>G
c.384-102A>C
|
p.Phe696Cys
-
|
- | 3.0 |
|
B | |
| 27001 | chr7 | 105565647 | C | A |
c.2185C>A
c.384-200G>T
|
p.His729Asn
-
|
- | 3.0 |
|
B | |
| 27554 | chr7 | 106253076 | G | C |
c.1306C>G
|
p.Pro436Ala
|
- | 3.0 |
|
B | |
| 5182 | chr7 | 106254505 | C | T |
c.1090-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 26927 | chr7 | 106263499 | C | A |
c.862G>T
|
p.Glu288Ter
|
- | 3.0 |
|
B | |
| 20032 | chr7 | 106263583 | CT | C |
c.777del
|
p.Asp260MetfsTer7
|
- | 3.0 |
|
B | |
| 28318 | chr7 | 106263591 | T | A |
c.770A>T
|
p.His257Leu
|
- | 3.0 |
|
B | |
| 16397 | chr7 | 106268519 | A | AC |
c.687_688insG
|
p.Tyr230ValfsTer29
|
- | 3.0 |
|
B | |
| 15143 | chr7 | 106268548 | G | C |
c.659C>G
|
p.Thr220Arg
|
- | 3.0 |
|
B | |
| 16751 | chr7 | 106269135 | G | A |
c.606+19C>T
|
-
|
- | 3.0 |
|
B | |
| 26707 | chr7 | 106867612 | C | T |
c.51C>T
|
p.Cys17=
|
2.0 |
|
B | ||
| 26091 | chr7 | 106867722 | C | T |
c.161C>T
|
p.Pro54Leu
|
- | 3.0 |
|
B | |
| 2709 | chr7 | 106867728 | C | T |
c.167C>T
|
p.Thr56Met
|
3.0 |
|
B |