Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12258 | chr2 | 178547126 | T | A |
c.94399A>T
|
p.Asn31467Tyr
|
- | 3.0 |
|
B | |
| 28473 | chr2 | 178547237 | CCCAACGAAT | C |
c.94279_94287del
|
p.Ile31427_Trp31429del
|
- | 3.0 |
|
B | |
| 18060 | chr2 | 178547243 | G | A |
c.94282C>T
|
p.Arg31428Cys
|
3.0 |
|
B | ||
| 21143 | chr2 | 178547470 | C | T |
c.94156G>A
|
p.Glu31386Lys
|
- | 3.0 |
|
B | |
| 30173 | chr2 | 178547608 | C | T |
c.94018G>A
|
p.Glu31340Lys
|
- | 3.0 |
|
B | |
| 20798 | chr2 | 178547623 | C | T |
c.94003G>A
|
p.Asp31335Asn
|
- | 3.0 |
|
B | |
| 31246 | chr2 | 178547686 | C | T |
c.93940G>A
|
p.Gly31314Ser
|
3.0 |
|
B | ||
| 12113 | chr2 | 178547848 | C | T |
c.93778G>A
|
p.Asp31260Asn
|
- | 3.0 |
|
B | |
| 21783 | chr2 | 178547956 | G | T |
c.93670C>A
|
p.Leu31224Ile
|
- | 3.0 |
|
B | |
| 17217 | chr2 | 178548175 | C | T |
c.93451G>A
|
p.Glu31151Lys
|
- | 3.0 |
|
B | |
| 16523 | chr2 | 178548279 | G | A |
c.93347C>T
|
p.Pro31116Leu
|
- | 3.0 |
|
B | |
| 14619 | chr2 | 178548319 | C | T |
c.93307G>A
|
p.Glu31103Lys
|
- | 3.0 |
|
B | |
| 22135 | chr2 | 178548390 | T | G |
c.93236A>C
|
p.Asp31079Ala
|
- | 3.0 |
|
B | |
| 12635 | chr2 | 178548478 | G | A |
c.93148C>T
|
p.His31050Tyr
|
- | 3.0 |
|
B | |
| 14437 | chr2 | 178548548 | T | G |
c.93078A>C
|
p.Lys31026Asn
|
- | 3.0 |
|
B | |
| 15920 | chr2 | 178548601 | A | C |
c.93025T>G
|
p.Phe31009Val
|
- | 3.0 |
|
B | |
| 31338 | chr2 | 178548870 | C | T |
c.92756G>A
|
p.Arg30919Gln
|
3.0 |
|
B | ||
| 32882 | chr2 | 178549857 | T | A |
c.91865A>T
|
p.Lys30622Ile
|
- | 3.0 |
|
B | |
| 25217 | chr2 | 178550151 | C | A |
c.91687G>T
|
p.Asp30563Tyr
|
- | 3.0 |
|
B | |
| 20724 | chr2 | 178551153 | C | G |
c.91378G>C
|
p.Glu30460Gln
|
- | 3.0 |
|
B |