Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26375 | chr1 | 97721493 | G | A |
c.483+17C>T
|
-
|
3.0 |
|
B | ||
| 6982 | chr1 | 97721510 | C | G |
c.483G>C
|
p.Glu161Asp
|
- | 3.0 |
|
B | |
| 29596 | chr1 | 97721550 | C | G |
c.443G>C
|
p.Gly148Ala
|
3.0 |
|
B | ||
| 777 | chr1 | 97721632 | G | C |
c.361C>G
|
p.Pro121Ala
|
- | 3.0 |
|
B | |
| 5813 | chr1 | 97740430 | G | A |
c.283C>T
|
p.Leu95Phe
|
- | 3.0 |
|
B | |
| 32001 | chr1 | 97828104 | C | A |
c.233+10G>T
|
-
|
- | 3.0 |
|
B | |
| 8596 | chr1 | 97883341 | G | C |
c.73C>G
|
p.His25Asp
|
- | 3.0 |
|
B | |
| 27453 | chr1 | 97883355 | G | A |
c.59C>T
|
p.Pro20Leu
|
- | 3.0 |
|
B | |
| 14577 | chr1 | 97883356 | G | A |
c.58C>T
|
p.Pro20Ser
|
- | 3.0 |
|
B | |
| 9813 | chr1 | 97920894 | G | A |
c.29C>T
|
p.Ala10Val
|
3.0 |
|
B | ||
| 10447 | chr1 | 100068565 | CT | C |
c.806del
|
p.Leu269TyrfsTer6
|
3.0 |
|
B | ||
| 31532 | chr1 | 108733314 | C | A |
c.1922C>A
|
p.Pro641His
|
- | 3.0 |
|
B | |
| 3297 | chr1 | 109250740 | G | A |
c.661G>A
|
p.Asp221Asn
|
- | 3.0 |
|
B | |
| 19505 | chr1 | 110363804 | CA | C |
c.1425del
|
p.Phe475LeufsTer12
|
3.0 |
|
B | ||
| 3605 | chr1 | 110674550 | TCGTAGCGGTC | T |
c.250_259del
|
p.Asp84SerfsTer33
|
- | 3.0 |
|
B | |
| 3606 | chr1 | 110674562 | C | CGACCGCTACG |
c.247_248insCGTAGCGGTC
|
p.Cys83SerfsTer2
|
- | 3.0 |
|
B | |
| 3607 | chr1 | 110674569 | C | T |
c.241G>A
|
p.Gly81Ser
|
3.0 |
|
B | ||
| 4807 | chr1 | 111235058 | G | GACT |
c.480+1_480+2insACT
|
p.?
|
- | 3.0 |
|
B | |
| 4346 | chr1 | 112582091 | G | A |
c.970C>T
|
p.Pro324Ser
|
- | 3.0 |
|
B | |
| 19183 | chr1 | 114397651 | C | A |
c.3381G>T
|
p.Lys1127Asn
|
- | 3.0 |
|
B |