Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2863 | chr17 | 75779167 | C | G |
c.8G>C
|
p.Arg3Pro
|
- | 3.0 |
|
B | |
| 3335 | chr17 | 76009259 | C | T |
c.3946G>A
-
|
p.Glu1316Lys
-
|
- | 3.0 |
|
B | |
| 4451 | chr17 | 76009451 | C | T |
c.3754G>A
-
|
p.Glu1252Lys
-
|
3.0 |
|
B | ||
| 4771 | chr17 | 76014940 | G | A |
c.2198C>T
|
p.Ala733Val
|
- | 3.0 |
|
B | |
| 3722 | chr17 | 76075141 | C | T |
-
-
c.258C>T
|
-
-
p.Tyr86=
|
- | 3.0 |
|
B | |
| 3723 | chr17 | 76076918 | C | CGGGCACCCGAGCCCGCGGCCACCGG |
-
-
-
c.652_653insGGCACCCGAGCCCGCGGCCACCGGG
|
-
-
-
p.Val218GlyfsTer176
|
- | 3.0 |
|
B | |
| 3724 | chr17 | 76076923 | ACCCGGTGGCCGCGGGCTCGGGTGCC | A |
-
-
-
c.658_682del
|
-
-
-
p.Pro220GlyfsTer7
|
- | 3.0 |
|
B | |
| 3725 | chr17 | 76097855 | CTCTCGGGCAG | C |
c.571_580del
|
p.Leu191AlafsTer23
|
- | 3.0 |
|
B | |
| 22470 | chr17 | 76471656 | C | G |
c.2461G>C
-
|
p.Glu821Gln
-
|
- | 3.0 |
|
B | |
| 26155 | chr17 | 76471754 | G | A |
c.2363C>T
-
|
p.Ala788Val
-
|
3.0 |
|
B | ||
| 7586 | chr17 | 76471848 | CG | C |
c.2268del
-
|
p.Phe756LeufsTer132
-
|
- | 3.0 |
|
B | |
| 18691 | chr17 | 76471916 | CCACAGATGAACAG | C |
c.2188_2200del
-
|
p.Leu730AlafsTer154
-
|
- | 3.0 |
|
B | |
| 29396 | chr17 | 76472067 | G | A |
c.2065-15C>T
-
|
-
-
|
3.0 |
|
B | ||
| 29855 | chr17 | 76472994 | G | A |
c.1910+11C>T
-
|
-
-
|
- | 3.0 |
|
B | |
| 20698 | chr17 | 76473021 | G | A |
c.1894C>T
-
|
p.Leu632Phe
-
|
- | 3.0 |
|
B | |
| 22946 | chr17 | 76473269 | C | T |
c.1792G>A
-
|
p.Ala598Thr
-
|
- | 3.0 |
|
B | |
| 21015 | chr17 | 76473313 | G | A |
c.1748C>T
-
|
p.Thr583Ile
-
|
3.0 |
|
B | ||
| 15210 | chr17 | 76473324 | A | C |
c.1737T>G
-
|
p.Cys579Trp
-
|
3.0 |
|
B | ||
| 14983 | chr17 | 76473675 | C | T |
c.1706G>A
-
|
p.Arg569His
-
|
3.0 |
|
B | ||
| 33911 | chr17 | 76474377 | C | A |
c.1460G>T
-
|
p.Cys487Phe
-
|
- | 3.0 |
|
B |