Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2787 | chr18 | 42020708 | A | T |
c.1484+3A>T
|
-
|
- | 3.0 |
|
B | |
| 20579 | chr18 | 42027434 | A | G |
c.1485-9A>G
|
-
|
3.0 |
|
B | ||
| 23369 | chr18 | 42027500 | T | G |
c.1542T>G
|
p.His514Gln
|
3.0 |
|
B | ||
| 34088 | chr18 | 42027516 | G | T |
c.1558G>T
|
p.Val520Leu
|
- | 3.0 |
|
B | |
| 1247 | chr18 | 42029322 | C | A |
c.1591-3C>A
|
-
|
- | 3.0 |
|
B | |
| 14665 | chr18 | 42029392 | T | C |
c.1658T>C
|
p.Val553Ala
|
- | 3.0 |
|
B | |
| 21348 | chr18 | 42029430 | C | T |
c.1696C>T
|
p.Arg566Cys
|
3.0 |
|
B | ||
| 35177 | chr18 | 42037746 | C | G |
c.1894C>G
|
p.Pro632Ala
|
- | 3.0 |
|
B | |
| 3205 | chr18 | 42037777 | G | A |
c.1925G>A
|
p.Arg642His
|
- | 3.0 |
|
B | |
| 34117 | chr18 | 42040741 | G | A |
c.2103G>A
|
p.Gln701=
|
- | 3.0 |
|
B | |
| 23556 | chr18 | 42057927 | C | A |
c.2308C>A
|
p.Pro770Thr
|
- | 3.0 |
|
B | |
| 1974 | chr18 | 42057978 | A | T |
c.2359A>T
|
p.Met787Leu
|
- | 3.0 |
|
B | |
| 10773 | chr18 | 42057981 | G | T |
c.2362G>T
|
p.Gly788Trp
|
- | 3.0 |
|
B | |
| 10455 | chr18 | 42058067 | T | C |
c.2432+16T>C
|
-
|
- | 3.0 |
|
B | |
| 1001 | chr18 | 42064738 | A | T |
c.2433-2A>T
|
p.?
|
- | 3.0 |
|
B | |
| 3494 | chr18 | 42743603 | G | A |
c.544C>T
|
p.Arg182Cys
|
3.0 |
|
B | ||
| 6956 | chr18 | 44701446 | G | T |
c.100G>T
|
p.Ala34Ser
|
3.0 |
|
B | ||
| 1350 | chr18 | 44701468 | C | A |
c.122C>A
|
p.Thr41Asn
|
- | 3.0 |
|
B | |
| 1002 | chr18 | 44701474 | G | T |
c.128G>T
|
p.Gly43Val
|
- | 3.0 |
|
B | |
| 2471 | chr18 | 44701506 | C | T |
c.160C>T
|
p.Arg54Cys
|
2.5 |
|
B |