Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20254 | chr18 | 41970395 | C | CA |
c.475dup
|
p.Thr159AsnfsTer7
|
- | 3.0 |
|
B | |
| 12919 | chr18 | 41987812 | C | G |
c.532C>G
|
p.Leu178Val
|
- | 3.0 |
|
B | |
| 33027 | chr18 | 41987878 | G | A |
c.598G>A
|
p.Glu200Lys
|
- | 3.0 |
|
B | |
| 15584 | chr18 | 41990445 | A | AT |
c.619-4dup
|
-
|
3.0 |
|
B | ||
| 19831 | chr18 | 41990445 | AT | A |
c.619-4del
|
-
|
3.0 |
|
B | ||
| 32916 | chr18 | 41993288 | C | A |
c.733C>A
|
p.Pro245Thr
|
- | 3.0 |
|
B | |
| 795 | chr18 | 41993321 | C | T |
c.766C>T
|
p.Pro256Ser
|
- | 3.0 |
|
B | |
| 32078 | chr18 | 41993359 | T | TG |
c.786+18_786+19insG
|
-
|
- | 3.0 |
|
B | |
| 34977 | chr18 | 41995884 | T | C |
c.787-6T>C
|
-
|
3.0 |
|
B | ||
| 31979 | chr18 | 41995915 | A | T |
c.812A>T
|
p.His271Leu
|
- | 3.0 |
|
B | |
| 30502 | chr18 | 41996639 | T | G |
c.893T>G
|
p.Ile298Ser
|
- | 3.0 |
|
B | |
| 3227 | chr18 | 41996732 | T | G |
c.984+2T>G
|
p.?
|
- | 3.0 |
|
B | |
| 8318 | chr18 | 42004504 | G | A |
c.1133G>A
|
p.Arg378His
|
3.0 |
|
B | ||
| 31980 | chr18 | 42004530 | G | T |
c.1159G>T
|
p.Ala387Ser
|
3.0 |
|
B | ||
| 6198 | chr18 | 42013569 | C | T |
c.1298C>T
|
p.Ser433Phe
|
- | 3.0 |
|
B | |
| 16133 | chr18 | 42015468 | T | G |
c.1326-8T>G
|
-
|
- | 3.0 |
|
B | |
| 5339 | chr18 | 42015552 | G | T |
c.1402G>T
|
p.Gly468Cys
|
- | 3.0 |
|
B | |
| 5340 | chr18 | 42015553 | G | T |
c.1403G>T
|
p.Gly468Val
|
- | 3.0 |
|
B | |
| 24069 | chr18 | 42020642 | A | T |
c.1421A>T
|
p.Asp474Val
|
- | 3.0 |
|
B | |
| 4605 | chr18 | 42020655 | C | G |
c.1434C>G
|
p.Phe478Leu
|
- | 3.0 |
|
B |