Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24105 | chr11 | 72014655 | C | T |
c.2848G>A
|
p.Glu950Lys
|
3.0 |
|
B | ||
| 25302 | chr11 | 72014748 | AG | A |
c.2754del
|
p.Leu919TrpfsTer19
|
- | 3.0 |
|
B | |
| 29528 | chr11 | 72015554 | C | T |
c.1949G>A
|
p.Arg650Gln
|
3.0 |
|
B | ||
| 34032 | chr11 | 72015828 | T | C |
c.1675A>G
|
p.Ser559Gly
|
- | 3.0 |
|
B | |
| 30243 | chr11 | 72016067 | C | T |
c.1436G>A
|
p.Ser479Asn
|
- | 3.0 |
|
B | |
| 7218 | chr11 | 72016179 | C | CA |
c.1323dup
|
p.Glu442Ter
|
- | 3.0 |
|
B | |
| 23069 | chr11 | 72016224 | C | T |
c.1279G>A
|
p.Ala427Thr
|
- | 3.0 |
|
B | |
| 14096 | chr11 | 72016500 | G | A |
c.1150C>T
|
p.Gln384Ter
|
- | 3.0 |
|
B | |
| 30514 | chr11 | 72017704 | C | A |
c.1102G>T
|
p.Ala368Ser
|
- | 3.0 |
|
B | |
| 16015 | chr11 | 72017707 | T | G |
c.1099A>C
|
p.Ser367Arg
|
- | 3.0 |
|
B | |
| 1164 | chr11 | 72018271 | T | G |
c.890A>C
|
p.Lys297Thr
|
- | 3.0 |
|
B | |
| 33971 | chr11 | 72018412 | G | A |
c.844C>T
|
p.Arg282Cys
|
3.0 |
|
B | ||
| 5472 | chr11 | 72018907 | T | C |
c.658A>G
|
p.Lys220Glu
|
- | 3.0 |
|
B | |
| 1941 | chr11 | 72018950 | C | T |
c.615G>A
|
p.Met205Ile
|
- | 3.0 |
|
B | |
| 26968 | chr11 | 72023142 | G | A |
c.214C>T
|
p.Arg72Ter
|
- | 3.0 |
|
B | |
| 27899 | chr11 | 72225181 | GGCTCCTTGCGGGCTGGCGTGGACCGGGA | G |
c.182+18_182+45del
-
|
-
-
|
1.0 |
|
B | ||
| 2015 | chr11 | 72228216 | G | A |
c.209G>A
|
p.Arg70His
|
- | 3.0 |
|
B | |
| 28614 | chr11 | 72228469 | C | T |
c.368C>T
|
p.Pro123Leu
|
3.0 |
|
B | ||
| 3052 | chr11 | 72229158 | C | A |
c.587C>A
|
p.Ala196Asp
|
- | 3.0 |
|
B | |
| 13637 | chr11 | 72229554 | A | C |
c.749A>C
|
p.Gln250Pro
|
- | 3.0 |
|
B |