Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12906 | chr5 | 132889074 | C | A |
c.2732+5G>T
|
-
|
- | 3.0 |
|
B | |
| 24973 | chr5 | 132893066 | T | A |
c.2360A>T
|
p.Lys787Met
|
- | 3.0 |
|
B | |
| 11142 | chr5 | 132896372 | T | C |
c.2258A>G
|
p.Gln753Arg
|
- | 3.0 |
|
B | |
| 13078 | chr5 | 132896554 | C | T |
c.2076G>A
|
p.Met692Ile
|
3.0 |
|
B | ||
| 20552 | chr5 | 132896594 | G | A |
c.2036C>T
|
p.Ser679Phe
|
3.0 |
|
B | ||
| 22861 | chr5 | 132897053 | G | A |
c.1577C>T
|
p.Ser526Phe
|
- | 3.0 |
|
B | |
| 30115 | chr5 | 132927120 | C | T |
c.1050+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 16123 | chr5 | 132934229 | G | C |
c.836C>G
|
p.Ser279Cys
|
- | 3.0 |
|
B | |
| 29333 | chr5 | 132934320 | T | C |
c.745A>G
|
p.Met249Val
|
3.0 |
|
B | ||
| 29627 | chr5 | 132934394 | G | A |
c.671C>T
|
p.Ser224Phe
|
3.0 |
|
B | ||
| 31267 | chr5 | 132934557 | C | A |
c.508G>T
|
p.Gly170Ter
|
- | 3.0 |
|
B | |
| 11212 | chr5 | 136266238 | T | G |
c.1327A>C
|
p.Ile443Leu
|
- | 3.0 |
|
B | |
| 4489 | chr5 | 138182877 | C | T |
-
c.719C>T
-
|
-
p.Ser240Phe
-
|
- | 3.0 |
|
B | |
| 11213 | chr5 | 138344852 | A | G |
c.164A>G
|
p.His55Arg
|
3.0 |
|
B | ||
| 6533 | chr5 | 138783176 | G | T |
c.106-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 9411 | chr5 | 138783218 | T | G |
c.147T>G
|
p.Asn49Lys
|
- | 3.0 |
|
B | |
| 6560 | chr5 | 138783223 | A | C |
c.152A>C
|
p.Lys51Thr
|
- | 3.0 |
|
B | |
| 9517 | chr5 | 138827585 | A | C |
c.929A>C
|
p.Glu310Ala
|
- | 3.0 |
|
B | |
| 1808 | chr5 | 138886271 | G | T |
c.1122G>T
|
p.Lys374Asn
|
- | 3.0 |
|
B | |
| 7186 | chr5 | 138887532 | G | T |
c.1186G>T
|
p.Glu396Ter
|
- | 4.0 |
|
B |