Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30541 | chr18 | 51058221 | G | C |
c.764G>C
|
p.Gly255Ala
|
- | 3.0 |
|
B | |
| 24233 | chr18 | 51058332 | A | AG |
c.788-8_788-7insG
|
-
|
- | 3.0 |
|
B | |
| 17596 | chr18 | 51058338 | A | G |
c.788-2A>G
|
p.?
|
- | 4.0 |
|
B | |
| 1458 | chr18 | 51058417 | C | T |
c.865C>T
|
p.Gln289Ter
|
- | 4.5 |
|
B | |
| 2137 | chr18 | 51065435 | G | A |
c.968G>A
|
p.Trp323Ter
|
- | 4.0 |
|
B | |
| 10394 | chr18 | 51065455 | G | A |
c.988G>A
|
p.Glu330Lys
|
3.5 |
|
B | ||
| 28293 | chr18 | 51065455 | G | GA |
c.991dup
|
p.Met331AsnfsTer10
|
- | 4.0 |
|
B | |
| 10918 | chr18 | 51065455 | G | T |
c.988G>T
|
p.Glu330Ter
|
- | 4.0 |
|
B | |
| 25597 | chr18 | 51065456 | A | C |
c.989A>C
|
p.Glu330Ala
|
4.0 |
|
B | ||
| 21048 | chr18 | 51065459 | TG | T |
c.994del
|
p.Asp332MetfsTer4
|
- | 4.0 |
|
B | |
| 14991 | chr18 | 51065462 | A | G |
c.995A>G
|
p.Asp332Gly
|
- | 3.0 |
|
B | |
| 33533 | chr18 | 51065485 | A | T |
c.1018A>T
|
p.Lys340Ter
|
- | 4.0 |
|
B | |
| 7907 | chr18 | 51065509 | G | GTT |
c.1043_1044dup
|
p.Thr349LeufsTer36
|
- | 4.0 |
|
B | |
| 25304 | chr18 | 51065513 | C | CTGT |
c.1049_1051dup
|
p.Val350dup
|
- | 3.0 |
|
B | |
| 21731 | chr18 | 51065518 | G | T |
c.1051G>T
|
p.Asp351Tyr
|
- | 3.5 |
|
B | |
| 27916 | chr18 | 51065519 | A | T |
c.1052A>T
|
p.Asp351Val
|
4.0 |
|
B | ||
| 27440 | chr18 | 51065522 | G | A |
c.1055G>A
|
p.Gly352Glu
|
3.5 |
|
B | ||
| 7523 | chr18 | 51065522 | G | T |
c.1055G>T
|
p.Gly352Val
|
- | 3.0 |
|
B | |
| 30682 | chr18 | 51065534 | C | T |
c.1067C>T
|
p.Pro356Leu
|
- | 3.5 |
|
B | |
| 13346 | chr18 | 51065536 | T | C |
c.1069T>C
|
p.Ser357Pro
|
- | 3.0 |
|
B |