Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16145 | chr2 | 222297052 | C | T |
c.247G>A
|
p.Val83Ile
|
3.0 |
|
B | ||
| 23454 | chr2 | 222297224 | G | A |
c.86-11C>T
|
-
|
- | 3.0 |
|
B | |
| 25795 | chr2 | 222298633 | T | C |
c.-18A>G
|
-
|
- | 3.0 |
|
B | |
| 25306 | chr2 | 222908908 | G | A |
c.136G>A
|
p.Glu46Lys
|
3.0 |
|
B | ||
| 35208 | chr2 | 222918066 | C | T |
c.577C>T
|
p.Leu193=
|
- | 3.0 |
|
B | |
| 19975 | chr2 | 222918139 | TACAA | T |
c.656_659del
|
p.Thr219SerfsTer2
|
3.0 |
|
B | ||
| 17737 | chr2 | 222919113 | G | C |
c.716G>C
|
p.Gly239Ala
|
- | 3.0 |
|
B | |
| 33787 | chr2 | 222919131 | C | T |
c.734C>T
|
p.Ser245Phe
|
- | 3.0 |
|
B | |
| 16920 | chr2 | 222922793 | C | T |
c.1042C>T
|
p.Arg348Cys
|
3.0 |
|
B | ||
| 16043 | chr2 | 222941532 | C | T |
c.2041C>T
|
p.Arg681Cys
|
3.0 |
|
B | ||
| 28168 | chr2 | 222941538 | A | C |
c.2047A>C
|
p.Ser683Arg
|
- | 3.0 |
|
B | |
| 14378 | chr2 | 222941625 | G | A |
c.2134G>A
|
p.Asp712Asn
|
- | 3.0 |
|
B | |
| 21610 | chr2 | 222941635 | G | A |
c.2144G>A
|
p.Arg715Gln
|
3.0 |
|
B | ||
| 21455 | chr2 | 224478268 | T | C |
c.2107A>G
|
p.Ile703Val
|
- | 3.0 |
|
B | |
| 8874 | chr2 | 224495897 | G | A |
c.1777C>T
|
p.Gln593Ter
|
- | 3.5 |
|
B | |
| 33788 | chr2 | 224497867 | A | T |
c.1611-18T>A
|
-
|
- | 3.0 |
|
B | |
| 9039 | chr2 | 224500409 | A | G |
c.1564T>C
|
p.Cys522Arg
|
- | 3.0 |
|
B | |
| 8448 | chr2 | 224503667 | C | A |
c.1362G>T
|
p.Met454Ile
|
- | 3.0 |
|
B | |
| 29918 | chr2 | 224503695 | C | A |
c.1334G>T
|
p.Ser445Ile
|
- | 3.0 |
|
B | |
| 230 | chr2 | 224503797 | AT | A |
c.1231del
|
p.Ile411TyrfsTer44
|
- | 4.0 |
|
B |