Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22324 | chr7 | 5528042 | C | T |
c.946G>A
|
p.Glu316Lys
|
- | 3.0 |
|
B | |
| 34899 | chr7 | 5528078 | T | C |
c.910A>G
|
p.Thr304Ala
|
- | 3.0 |
|
B | |
| 26250 | chr7 | 5528126 | C | T |
c.862G>A
|
p.Asp288Asn
|
- | 3.0 |
|
B | |
| 18665 | chr7 | 5528148 | G | GT |
c.839dup
|
p.Asn280LysfsTer7
|
- | 3.0 |
|
B | |
| 21712 | chr7 | 5528188 | G | A |
c.803-3C>T
|
-
|
- | 3.0 |
|
B | |
| 17576 | chr7 | 5528194 | G | A |
c.803-9C>T
|
-
|
2.0 |
|
B | ||
| 17297 | chr7 | 5528292 | G | A |
c.791C>T
|
p.Pro264Leu
|
- | 3.0 |
|
B | |
| 1638 | chr7 | 5528422 | G | A |
c.661C>T
|
p.Leu221=
|
2.5 |
|
B | ||
| 28460 | chr7 | 5528494 | C | T |
c.589G>A
|
p.Gly197Ser
|
3.0 |
|
B | ||
| 1832 | chr7 | 5528534 | C | T |
c.549G>A
|
p.Arg183=
|
3.0 |
|
B | ||
| 27108 | chr7 | 5528622 | T | A |
c.461A>T
|
p.Asp154Val
|
- | 3.0 |
|
B | |
| 8220 | chr7 | 5528628 | A | T |
c.455T>A
|
p.Val152Glu
|
- | 3.0 |
|
B | |
| 23808 | chr7 | 5528644 | G | A |
c.439C>T
|
p.Arg147Cys
|
- | 5.0 |
|
B | |
| 13047 | chr7 | 5528650 | A | G |
c.433T>C
|
p.Ser145Pro
|
- | 3.0 |
|
B | |
| 27515 | chr7 | 5529332 | G | A |
c.192C>T
|
p.Ile64=
|
2.0 |
|
B | ||
| 19480 | chr7 | 5529385 | T | C |
c.139A>G
|
p.Met47Val
|
- | 3.0 |
|
B | |
| 534 | chr7 | 5529405 | G | C |
c.124-5C>G
|
-
|
- | 3.0 |
|
B | |
| 3222 | chr7 | 5529532 | T | G |
c.123+3A>C
|
-
|
3.0 |
|
B | ||
| 15330 | chr7 | 5977659 | C | T |
c.2374G>A
|
p.Asp792Asn
|
3.0 |
|
B | ||
| 19061 | chr7 | 5982823 | C | T |
c.2174+1G>A
|
p.?
|
5.0 |
|
B |