Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6835 | chr6 | 26158379 | C | G |
-
c.210C>G
|
-
p.Ile70Met
|
- | 3.0 |
|
B | |
| 10942 | chr6 | 26158382 | C | T |
-
c.213C>T
|
-
p.Phe71=
|
- | 3.0 |
|
B | |
| 32018 | chr6 | 26158383 | G | T |
-
c.214G>T
|
-
p.Glu72Ter
|
- | 3.0 |
|
B | |
| 34201 | chr6 | 26158422 | A | G |
-
c.253A>G
|
-
p.Asn85Asp
|
- | 3.0 |
|
B | |
| 24610 | chr6 | 26158481 | G | T |
-
c.312G>T
|
-
p.Pro104=
|
- | 3.0 |
|
B | |
| 25498 | chr6 | 26158502 | C | T |
-
c.333C>T
|
-
p.Ala111=
|
3.0 |
|
B | ||
| 7498 | chr6 | 26158513 | G | A |
-
c.344G>A
|
-
p.Gly115Asp
|
- | 3.0 |
|
B | |
| 6774 | chr6 | 26158528 | C | G |
-
c.359C>G
|
-
p.Thr120Ser
|
3.0 |
|
B | ||
| 1454 | chr6 | 26197035 | G | A |
c.216C>T
-
-
|
p.Val72=
-
-
|
3.0 |
|
B | ||
| 6804 | chr6 | 26197087 | T | G |
c.164A>C
-
-
|
p.Tyr55Ser
-
-
|
- | 3.0 |
|
B | |
| 22865 | chr6 | 26197215 | C | T |
c.36G>A
-
-
|
p.Thr12=
-
-
|
3.0 |
|
B | ||
| 24367 | chr6 | 26197231 | G | C |
c.20C>G
-
-
|
p.Thr7Ser
-
-
|
- | 3.0 |
|
B | |
| 11878 | chr6 | 26197260 | C | T |
c.-10G>A
-
-
|
-
-
-
|
- | 3.0 |
|
B | |
| 12130 | chr6 | 26225155 | A | G |
c.1A>G
|
p.Met1?
|
3.0 |
|
B | ||
| 11040 | chr6 | 26225223 | T | TCGC |
c.69_70insCGC
|
p.Thr23_Lys24insArg
|
- | 3.0 |
|
B | |
| 11041 | chr6 | 26225226 | GGC | G |
c.73_74del
|
p.Ala25SerfsTer98
|
- | 3.0 |
|
B | |
| 2721 | chr6 | 26225242 | G | A |
c.88G>A
|
p.Ala30Thr
|
- | 3.0 |
|
B | |
| 27465 | chr6 | 26225245 | C | T |
c.91C>T
|
p.Pro31Ser
|
3.0 |
|
B | ||
| 33168 | chr6 | 26225305 | G | A |
c.151G>A
|
p.Glu51Lys
|
- | 3.0 |
|
B | |
| 23469 | chr6 | 26225311 | C | A |
c.157C>A
|
p.Arg53Ser
|
- | 3.0 |
|
B |