Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24142 | chr1 | 43545137 | T | C |
c.62T>C
|
p.Leu21Pro
|
- | 3.0 |
|
B | |
| 24894 | chr1 | 43553641 | C | T |
c.237+4C>T
|
-
|
3.0 |
|
B | ||
| 28943 | chr1 | 43553819 | G | T |
c.257G>T
|
p.Gly86Val
|
- | 3.0 |
|
B | |
| 30300 | chr1 | 43553958 | C | T |
c.379+17C>T
|
-
|
3.0 |
|
B | ||
| 28099 | chr1 | 43569622 | G | A |
c.412G>A
|
p.Asp138Asn
|
3.0 |
|
B | ||
| 18482 | chr1 | 43591186 | C | T |
c.1164C>T
|
p.Arg388=
|
3.0 |
|
B | ||
| 13904 | chr1 | 43591419 | A | C |
c.1397A>C
|
p.Asn466Thr
|
3.0 |
|
B | ||
| 31336 | chr1 | 43591420 | C | A |
c.1398C>A
|
p.Asn466Lys
|
3.0 |
|
B | ||
| 21260 | chr1 | 43591421 | A | C |
c.1399A>C
|
p.Thr467Pro
|
3.0 |
|
B | ||
| 31878 | chr1 | 43591545 | A | T |
c.1523A>T
|
p.Gln508Leu
|
3.0 |
|
B | ||
| 26311 | chr1 | 43591851 | C | A |
c.1571C>A
|
p.Ser524Ter
|
- | 3.0 |
|
B | |
| 12479 | chr1 | 43591884 | C | T |
c.1604C>T
|
p.Pro535Leu
|
3.0 |
|
B | ||
| 21580 | chr1 | 43597907 | T | C |
c.1973T>C
|
p.Val658Ala
|
3.0 |
|
B | ||
| 29281 | chr1 | 43597943 | A | G |
c.2009A>G
|
p.Asp670Gly
|
- | 3.0 |
|
B | |
| 9980 | chr1 | 43598845 | G | A |
c.2245G>A
|
p.Val749Met
|
3.0 |
|
B | ||
| 12141 | chr1 | 43598905 | G | A |
c.2305G>A
|
p.Glu769Lys
|
3.0 |
|
B | ||
| 21704 | chr1 | 43602073 | G | T |
c.2316G>T
|
p.Trp772Cys
|
- | 3.0 |
|
B | |
| 19939 | chr1 | 43603483 | AG | A |
c.2413del
|
p.Asp805MetfsTer22
|
- | 3.0 |
|
B | |
| 14573 | chr1 | 43603485 | G | A |
c.2410G>A
|
p.Gly804Arg
|
- | 3.0 |
|
B | |
| 16670 | chr1 | 43603826 | C | T |
c.2674C>T
|
p.Leu892Phe
|
- | 3.0 |
|
B |