Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14782 | chr11 | 108326230 | G | T |
c.6975+5G>T
|
-
|
3.5 |
|
B | ||
| 21941 | chr11 | 108327753 | G | T |
c.7084G>T
|
p.Glu2362Ter
|
- | 4.0 |
|
B | |
| 28810 | chr11 | 108327761 | A | G |
c.7089+3A>G
|
-
|
3.0 |
|
B | ||
| 7790 | chr11 | 108329041 | T | G |
c.7110T>G
|
p.Asn2370Lys
|
- | 3.0 |
|
B | |
| 4262 | chr11 | 108329051 | G | A |
c.7120G>A
|
p.Glu2374Lys
|
- | 3.0 |
|
B | |
| 34677 | chr11 | 108329103 | C | A |
c.7172C>A
|
p.Ala2391Asp
|
- | 3.0 |
|
B | |
| 1323 | chr11 | 108329133 | TTGAAAA | T |
c.7203_7208del
|
p.Glu2402_Asn2403del
|
- | 3.0 |
|
B | |
| 25235 | chr11 | 108329154 | C | T |
c.7223C>T
|
p.Ser2408Leu
|
3.0 |
|
B | ||
| 5578 | chr11 | 108329211 | T | G |
c.7280T>G
|
p.Leu2427Arg
|
3.5 |
|
B | ||
| 1954 | chr11 | 108330213 | G | C |
c.7308-1G>C
|
p.?
|
4.0 |
|
B | ||
| 1955 | chr11 | 108330248 | G | A |
c.7342G>A
|
p.Asp2448Asn
|
3.0 |
|
B | ||
| 28033 | chr11 | 108330293 | T | G |
c.7387T>G
|
p.Leu2463Val
|
3.0 |
|
B | ||
| 436 | chr11 | 108330298 | T | A |
c.7392T>A
|
p.Cys2464Ter
|
- | 4.0 |
|
B | |
| 19920 | chr11 | 108331427 | CT | C |
c.7516-9del
|
-
|
2.0 |
|
B | ||
| 996 | chr11 | 108331493 | A | C |
c.7565A>C
|
p.Gln2522Pro
|
- | 3.0 |
|
B | |
| 25768 | chr11 | 108331494 | A | T |
c.7566A>T
|
p.Gln2522His
|
3.0 |
|
B | ||
| 6173 | chr11 | 108331570 | G | C |
c.7629+13G>C
|
-
|
- | 3.5 |
|
B | |
| 28034 | chr11 | 108332742 | T | G |
c.7789-20T>G
|
-
|
- | 3.0 |
|
B | |
| 19084 | chr11 | 108332761 | G | T |
c.7789-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 6742 | chr11 | 108332905 | GT | G |
c.7927+13del
|
-
|
2.0 |
|
B |