Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26358 | chr6 | 146399272 | A | T |
c.2233A>T
|
p.Ile745Phe
|
- | 3.0 |
|
B | |
| 16913 | chr6 | 146399374 | G | A |
c.2335G>A
|
p.Ala779Thr
|
3.0 |
|
B | ||
| 12629 | chr6 | 146399566 | G | A |
c.2527G>A
|
p.Glu843Lys
|
- | 3.0 |
|
B | |
| 15414 | chr6 | 146399618 | T | C |
c.2579T>C
|
p.Val860Ala
|
- | 3.0 |
|
B | |
| 20741 | chr6 | 146434051 | C | G |
c.2840C>G
|
p.Ser947Ter
|
- | 3.0 |
|
B | |
| 15415 | chr6 | 146434076 | C | A |
c.2865C>A
|
p.Tyr955Ter
|
- | 3.0 |
|
B | |
| 27408 | chr6 | 146434147 | A | G |
c.2936A>G
|
p.His979Arg
|
- | 3.0 |
|
B | |
| 11280 | chr6 | 146434231 | C | A |
c.3020C>A
|
p.Pro1007Gln
|
- | 3.0 |
|
B | |
| 17995 | chr6 | 146434233 | G | A |
c.3022G>A
|
p.Ala1008Thr
|
3.0 |
|
B | ||
| 20633 | chr6 | 146434362 | G | A |
c.3151G>A
|
p.Val1051Met
|
3.0 |
|
B | ||
| 21385 | chr6 | 146434383 | C | T |
c.3172C>T
|
p.Pro1058Ser
|
3.0 |
|
B | ||
| 28188 | chr6 | 146434567 | C | T |
c.3356C>T
|
p.Thr1119Met
|
3.0 |
|
B | ||
| 19602 | chr6 | 149661959 | C | A |
c.3163G>T
|
p.Glu1055Ter
|
- | 4.0 |
|
B | |
| 15902 | chr6 | 149662087 | GT | G |
c.3034del
|
p.Thr1012GlnfsTer8
|
4.0 |
|
B | ||
| 5698 | chr6 | 149676295 | A | C |
c.2848T>G
|
p.Phe950Val
|
- | 3.0 |
|
B | |
| 4233 | chr6 | 149676368 | TA | T |
c.2777-3del
|
-
|
- | 3.0 |
|
B | |
| 6934 | chr6 | 149676561 | G | A |
c.2770C>T
|
p.Arg924Ter
|
4.0 |
|
B | ||
| 6990 | chr6 | 149676587 | T | A |
c.2744A>T
|
p.Asn915Ile
|
- | 3.0 |
|
B | |
| 12405 | chr6 | 149676645 | G | A |
c.2686C>T
|
p.Arg896Trp
|
3.0 |
|
B | ||
| 16739 | chr6 | 149676694 | C | T |
c.2637G>A
|
p.Trp879Ter
|
- | 4.0 |
|
B |