Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6126 | chr3 | 142555897 | A | ATT |
c.2319_2320dup
|
p.Ile774LysfsTer6
|
- | 4.0 |
|
B | |
| 225 | chr3 | 142555897 | AT | A |
c.2320del
|
p.Ile774TyrfsTer5
|
5.0 |
|
A | ||
| 10035 | chr3 | 142555959 | ACATTCATG | A |
c.2251_2258del
|
p.His751PhefsTer23
|
- | 4.0 |
|
B | |
| 2039 | chr3 | 142556006 | C | A |
c.2212G>T
|
p.Val738Leu
|
- | 3.0 |
|
B | |
| 17169 | chr3 | 142556141 | T | G |
c.2079-2A>C
|
p.?
|
- | 4.0 |
|
B | |
| 19422 | chr3 | 142556432 | T | TA |
c.2028dup
|
p.Ile677TyrfsTer10
|
4.5 |
|
B | ||
| 6739 | chr3 | 142560314 | A | G |
c.1490T>C
|
p.Leu497Ser
|
- | 3.0 |
|
B | |
| 6293 | chr3 | 142561235 | C | A |
c.1349+8G>T
|
-
|
- | 3.0 |
|
B | |
| 31995 | chr3 | 142561285 | G | T |
c.1307C>A
|
p.Ser436Ter
|
4.0 |
|
B | ||
| 21510 | chr3 | 142562652 | G | T |
c.750C>A
|
p.Ser250Arg
|
- | 3.0 |
|
B | |
| 31862 | chr3 | 142562735 | TA | T |
c.666del
|
p.Phe222LeufsTer11
|
- | 4.0 |
|
B | |
| 9017 | chr3 | 142562765 | G | A |
c.637C>T
|
p.Leu213Phe
|
3.0 |
|
B | ||
| 532 | chr3 | 142562852 | C | T |
c.550G>A
|
p.Glu184Lys
|
- | 3.0 |
|
B | |
| 19052 | chr3 | 142562872 | C | T |
c.530G>A
|
p.Arg177Gln
|
3.0 |
|
B | ||
| 9190 | chr3 | 142562873 | G | A |
c.529C>T
|
p.Arg177Ter
|
- | 4.5 |
|
B | |
| 23154 | chr3 | 142562887 | G | A |
c.515C>T
|
p.Pro172Leu
|
- | 3.0 |
|
B | |
| 12877 | chr3 | 142562960 | C | T |
c.442G>A
|
p.Glu148Lys
|
- | 3.0 |
|
B | |
| 11036 | chr3 | 142562978 | A | T |
c.424T>A
|
p.Phe142Ile
|
- | 3.0 |
|
B | |
| 17859 | chr3 | 142566111 | C | T |
c.292+10G>A
|
-
|
- | 3.0 |
|
B | |
| 9353 | chr3 | 142566217 | C | T |
c.196G>A
|
p.Val66Met
|
3.0 |
|
B |