Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2405 | chr1 | 26763273 | C | T |
c.2720C>T
|
p.Ser907Phe
|
- | 3.0 |
|
B | |
| 9975 | chr1 | 26763285 | G | T |
c.2732G>T
|
p.Arg911Met
|
3.5 |
|
B | ||
| 9391 | chr1 | 26763286 | G | A |
c.2732+1G>A
|
p.?
|
- | 4.0 |
|
B | |
| 34448 | chr1 | 26763286 | G | GT |
c.2732+2dup
|
-
|
- | 3.5 |
|
B | |
| 8853 | chr1 | 26766248 | A | AG |
c.2765dup
|
p.Met923HisfsTer13
|
- | 4.0 |
|
B | |
| 1644 | chr1 | 26766456 | G | A |
c.2879-1G>A
|
p.?
|
4.0 |
|
B | ||
| 12378 | chr1 | 26766502 | T | G |
c.2924T>G
|
p.Leu975Ter
|
- | 4.0 |
|
B | |
| 25690 | chr1 | 26766586 | C | T |
c.2988+20C>T
|
-
|
2.5 |
|
B | ||
| 27431 | chr1 | 26767800 | C | A |
c.2999C>A
|
p.Ser1000Tyr
|
- | 3.0 |
|
B | |
| 30377 | chr1 | 26767816 | T | G |
c.3015T>G
|
p.Asn1005Lys
|
- | 3.0 |
|
B | |
| 21259 | chr1 | 26767824 | TCAC | T |
c.3026_3028del
|
p.Thr1009del
|
- | 3.0 |
|
B | |
| 32143 | chr1 | 26767837 | T | G |
c.3036T>G
|
p.Tyr1012Ter
|
- | 4.0 |
|
B | |
| 87 | chr1 | 26767856 | G | T |
c.3055G>T
|
p.Glu1019Ter
|
- | 4.67 |
|
A | |
| 20264 | chr1 | 26767917 | CAA | C |
c.3118_3119del
|
p.Asn1040SerfsTer6
|
- | 4.0 |
|
B | |
| 10925 | chr1 | 26767994 | A | AC |
c.3194dup
|
p.Gln1066SerfsTer39
|
- | 4.0 |
|
B | |
| 2885 | chr1 | 26771130 | C | CA |
c.3216dup
|
p.Trp1073MetfsTer32
|
- | 4.0 |
|
B | |
| 31861 | chr1 | 26771130 | CA | C |
c.3216del
|
p.Lys1072AsnfsTer21
|
- | 4.0 |
|
B | |
| 25034 | chr1 | 26771171 | C | T |
c.3251C>T
|
p.Thr1084Ile
|
- | 3.0 |
|
B | |
| 88 | chr1 | 26771174 | C | G |
c.3254C>G
|
p.Ser1085Ter
|
- | 4.67 |
|
A | |
| 13768 | chr1 | 26771245 | CG | C |
c.3329del
|
p.Gly1110GlufsTer51
|
- | 4.0 |
|
B |