Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14496 | chr8 | 68109452 | T | A |
c.2975T>A
|
p.Ile992Asn
|
3.0 |
|
B | ||
| 19318 | chr8 | 68109487 | G | A |
c.3010G>A
|
p.Gly1004Arg
|
3.0 |
|
B | ||
| 28503 | chr8 | 68109595 | G | T |
c.3118G>T
|
p.Val1040Leu
|
- | 3.0 |
|
B | |
| 6035 | chr8 | 68115761 | C | A |
c.3155C>A
|
p.Ser1052Tyr
|
- | 3.0 |
|
B | |
| 10259 | chr8 | 68115764 | C | T |
c.3158C>T
|
p.Ser1053Leu
|
- | 3.0 |
|
B | |
| 6993 | chr8 | 68115875 | C | G |
c.3269C>G
|
p.Ala1090Gly
|
- | 3.0 |
|
B | |
| 851 | chr8 | 68115901 | C | T |
c.3295C>T
|
p.His1099Tyr
|
- | 3.0 |
|
B | |
| 17308 | chr8 | 68118632 | G | A |
c.3409G>A
|
p.Glu1137Lys
|
- | 3.0 |
|
B | |
| 11825 | chr8 | 68118637 | G | A |
c.3414G>A
|
p.Met1138Ile
|
- | 3.0 |
|
B | |
| 24280 | chr8 | 68119456 | G | A |
c.3446G>A
|
p.Arg1149His
|
3.0 |
|
B | ||
| 16151 | chr8 | 68119473 | C | A |
c.3463C>A
|
p.Gln1155Lys
|
- | 3.0 |
|
B | |
| 16901 | chr8 | 68119526 | C | A |
c.3504+12C>A
|
-
|
- | 3.0 |
|
B | |
| 12181 | chr8 | 68120203 | C | T |
c.3512C>T
|
p.Ser1171Leu
|
3.0 |
|
B | ||
| 852 | chr8 | 68120241 | G | A |
c.3550G>A
|
p.Ala1184Thr
|
- | 3.0 |
|
B | |
| 35685 | chr8 | 68121014 | G | A |
c.3689G>A
|
p.Arg1230Gln
|
1.5 |
|
B | ||
| 29891 | chr8 | 68127404 | C | G |
c.3751C>G
|
p.Leu1251Val
|
- | 3.0 |
|
B | |
| 3886 | chr8 | 68127418 | A | G |
c.3765A>G
|
p.Ser1255=
|
- | 3.0 |
|
B | |
| 19533 | chr8 | 68134088 | G | A |
c.3796G>A
|
p.Val1266Ile
|
- | 3.0 |
|
B | |
| 822 | chr8 | 68134089 | T | C |
c.3797T>C
|
p.Val1266Ala
|
- | 3.0 |
|
B | |
| 7719 | chr8 | 68134213 | G | T |
c.3921G>T
|
p.Trp1307Cys
|
- | 3.0 |
|
B |