Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17775 | chr5 | 131967955 | G | T |
c.1581C>A
|
p.Cys527Ter
|
3.0 |
|
B | ||
| 32781 | chr5 | 131970198 | A | C |
c.1437T>G
|
p.Val479=
|
- | 3.0 |
|
B | |
| 15225 | chr5 | 131971600 | G | C |
c.1384C>G
|
p.Pro462Ala
|
- | 3.0 |
|
B | |
| 25695 | chr5 | 131971623 | C | G |
c.1361G>C
|
p.Arg454Pro
|
- | 3.0 |
|
B | |
| 20807 | chr5 | 131973252 | C | T |
c.1203+14G>A
|
-
|
- | 3.0 |
|
B | |
| 34147 | chr5 | 131973271 | C | T |
c.1198G>A
|
p.Asp400Asn
|
3.0 |
|
B | ||
| 31730 | chr5 | 131973375 | C | T |
c.1094G>A
|
p.Arg365His
|
3.0 |
|
B | ||
| 18393 | chr5 | 131974742 | G | A |
c.1068+151C>T
|
-
|
- | 3.0 |
|
B | |
| 13757 | chr5 | 131976737 | A | C |
c.917-16T>G
|
-
|
- | 3.0 |
|
B | |
| 24276 | chr5 | 131986878 | T | A |
c.832-24A>T
|
-
|
3.0 |
|
B | ||
| 21710 | chr5 | 131986886 | C | G |
c.832-32G>C
|
-
|
- | 3.0 |
|
B | |
| 32922 | chr5 | 131988613 | C | G |
c.652+192G>C
|
-
|
3.0 |
|
B | ||
| 12560 | chr5 | 131989526 | G | A |
c.451-18C>T
|
-
|
3.0 |
|
B | ||
| 31355 | chr5 | 131990833 | C | A |
c.385+20G>T
|
-
|
3.0 |
|
B | ||
| 13731 | chr5 | 131990838 | CA | C |
c.385+14del
|
-
|
3.0 |
|
B | ||
| 16720 | chr5 | 131990975 | C | T |
c.271-8G>A
|
-
|
- | 3.0 |
|
B | |
| 33556 | chr5 | 131994087 | G | A |
c.214C>T
|
p.Arg72Trp
|
3.0 |
|
B | ||
| 28510 | chr5 | 132011565 | GGGCCC | G |
c.-17_-13del
|
-
|
3.0 |
|
B | ||
| 20951 | chr5 | 132559327 | C | T |
c.173C>T
|
p.Pro58Leu
|
- | 3.0 |
|
B | |
| 10433 | chr5 | 132559337 | C | T |
c.183C>T
|
p.Thr61=
|
- | 2.5 |
|
B |