Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16648 | chr16 | 67612109 | A | AAC |
c.950_951dup
|
p.Gly318GlnfsTer16
|
4.5 |
|
B | ||
| 24425 | chr16 | 67616817 | G | A |
c.1025G>A
|
p.Arg342His
|
3.5 |
|
B | ||
| 2987 | chr16 | 67626671 | G | T |
c.1474G>T
|
p.Glu492Ter
|
- | 4.0 |
|
B | |
| 9482 | chr16 | 67628550 | C | T |
c.1699C>T
|
p.Arg567Trp
|
3.0 |
|
B | ||
| 13705 | chr16 | 67629397 | G | C |
c.1702-1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 24871 | chr16 | 67629407 | G | C |
c.1711G>C
|
p.Ala571Pro
|
- | 3.0 |
|
B | |
| 5539 | chr16 | 67629429 | C | G |
c.1733C>G
|
p.Ala578Gly
|
- | 3.0 |
|
B | |
| 4421 | chr16 | 67629495 | G | A |
c.1799G>A
|
p.Arg600Lys
|
- | 3.0 |
|
B | |
| 31001 | chr16 | 67636674 | C | T |
c.1838-16C>T
|
-
|
3.0 |
|
B | ||
| 33967 | chr16 | 67636852 | G | GT |
c.1999+2dup
|
-
|
- | 3.5 |
|
B | |
| 23931 | chr16 | 67637757 | AAG | A |
c.2072_2073del
|
p.Glu691AlafsTer4
|
- | 3.5 |
|
B | |
| 33292 | chr16 | 67653209 | G | A |
c.3075G>A
-
|
p.Arg1025=
-
|
2.0 |
|
B | ||
| 30016 | chr16 | 67657221 | C | T |
c.4118-18C>T
-
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 21546 | chr16 | 67657701 | G | A |
-
c.1299-17C>T
-
|
-
-
-
|
2.5 |
|
B | ||
| 12439 | chr16 | 67657765 | A | G |
-
c.1295T>C
-
|
-
p.Val432Ala
-
|
1.0 |
|
B | ||
| 31416 | chr16 | 67657770 | T | G |
-
c.1290A>C
-
|
-
p.Gln430His
-
|
- | 3.0 |
|
B | |
| 15286 | chr16 | 67658024 | C | T |
-
c.1168G>A
-
-
|
-
p.Gly390Arg
-
-
|
2.0 |
|
B | ||
| 19695 | chr16 | 67658964 | AG | A |
-
c.608del
-
-
|
-
p.Pro203LeufsTer33
-
-
|
- | 3.0 |
|
B | |
| 20537 | chr16 | 67659230 | T | C |
-
c.492A>G
-
-
|
-
p.Ala164=
-
-
|
- | 3.0 |
|
B | |
| 12931 | chr16 | 67659363 | C | A |
-
c.458+12G>T
-
-
|
-
-
-
-
|
3.0 |
|
B |