Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14771 | chr1 | 237723125 | C | A |
c.10555-3C>A
|
-
|
3.0 |
|
B | ||
| 35379 | chr1 | 237723221 | A | G |
c.10648A>G
|
p.Arg3550Gly
|
3.0 |
|
B | ||
| 21262 | chr1 | 237726322 | T | A |
c.10725+14T>A
|
-
|
- | 3.0 |
|
B | |
| 20656 | chr1 | 237727181 | C | T |
c.10820C>T
|
p.Pro3607Leu
|
- | 3.0 |
|
B | |
| 28260 | chr1 | 237727202 | C | T |
c.10838+3C>T
|
-
|
2.0 |
|
B | ||
| 13322 | chr1 | 237727203 | G | A |
c.10838+4G>A
|
-
|
2.5 |
|
B | ||
| 16417 | chr1 | 237732052 | G | A |
c.10942G>A
|
p.Gly3648Arg
|
- | 3.0 |
|
B | |
| 18735 | chr1 | 237742354 | G | A |
c.11145+5G>A
|
-
|
3.0 |
|
B | ||
| 31749 | chr1 | 237757706 | G | T |
c.11255G>T
|
p.Gly3752Val
|
- | 3.0 |
|
B | |
| 23427 | chr1 | 237757753 | G | T |
c.11302G>T
|
p.Gly3768Cys
|
- | 3.0 |
|
B | |
| 28945 | chr1 | 237760940 | C | T |
c.11403-15C>T
|
-
|
2.0 |
|
B | ||
| 9545 | chr1 | 237773559 | G | A |
c.11686G>A
|
p.Asp3896Asn
|
- | 3.0 |
|
B | |
| 25489 | chr1 | 237773559 | G | C |
c.11686G>C
|
p.Asp3896His
|
- | 3.0 |
|
B | |
| 22435 | chr1 | 237773619 | G | C |
c.11746G>C
|
p.Val3916Leu
|
- | 3.0 |
|
B | |
| 31239 | chr1 | 237773631 | C | A |
c.11758C>A
|
p.Leu3920Ile
|
3.0 |
|
B | ||
| 18543 | chr1 | 237783822 | C | T |
c.12110C>T
|
p.Pro4037Leu
|
- | 3.0 |
|
B | |
| 17200 | chr1 | 237783824 | G | A |
c.12112G>A
|
p.Asp4038Asn
|
3.0 |
|
B | ||
| 27997 | chr1 | 237783849 | G | T |
c.12137G>T
|
p.Arg4046Met
|
- | 3.0 |
|
B | |
| 35179 | chr1 | 237783900 | C | T |
c.12188C>T
|
p.Thr4063Met
|
3.0 |
|
B | ||
| 9546 | chr1 | 237783921 | C | A |
c.12209C>A
|
p.Ala4070Glu
|
3.0 |
|
B |