Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 15895 | chr2 | 25282596 | T | A |
c.293A>T
|
p.Glu98Val
|
- | 3.0 |
|
B | |
| 33570 | chr2 | 25282688 | C | CT |
c.200dup
|
p.Asp68GlyfsTer31
|
- | 4.0 |
|
B | |
| 17849 | chr2 | 25313917 | C | T |
c.68G>A
|
p.Arg23Gln
|
3.0 |
|
B | ||
| 7076 | chr2 | 25742642 | T | A |
c.3695A>T
|
p.Lys1232Met
|
- | 3.0 |
|
B | |
| 9882 | chr2 | 25743006 | C | A |
c.3331G>T
|
p.Ala1111Ser
|
- | 3.0 |
|
B | |
| 19374 | chr2 | 25743171 | C | T |
c.3166G>A
|
p.Glu1056Lys
|
3.0 |
|
B | ||
| 12656 | chr2 | 25743174 | GGTATTGGTGT | G |
c.3153_3162del
|
p.His1052ThrfsTer4
|
- | 4.0 |
|
B | |
| 7019 | chr2 | 25743693 | C | T |
c.2644G>A
|
p.Val882Ile
|
3.0 |
|
B | ||
| 7020 | chr2 | 25743711 | C | T |
c.2626G>A
|
p.Ala876Thr
|
- | 3.0 |
|
B | |
| 7021 | chr2 | 25743822 | C | T |
c.2515G>A
|
p.Ala839Thr
|
- | 3.0 |
|
B | |
| 6251 | chr2 | 25743878 | T | C |
c.2459A>G
|
p.His820Arg
|
3.0 |
|
B | ||
| 9366 | chr2 | 25744053 | G | A |
c.2284C>T
|
p.Gln762Ter
|
- | 4.0 |
|
B | |
| 32357 | chr2 | 25744130 | C | T |
c.2207G>A
|
p.Ser736Asn
|
- | 3.0 |
|
B | |
| 18837 | chr2 | 25744297 | A | AGCTGCCGCTGCCGCCGCAGCT |
c.2039_2040insAGCTGCGGCGGCAGCGGCAGC
|
p.Ala678_Ala684dup
|
- | 3.0 |
|
B | |
| 29599 | chr2 | 25744416 | G | A |
c.1921C>T
|
p.Arg641Cys
|
- | 3.0 |
|
B | |
| 21208 | chr2 | 25749836 | G | A |
c.1720C>T
|
p.Gln574Ter
|
- | 4.0 |
|
B | |
| 33035 | chr2 | 25750170 | C | T |
c.1386G>A
|
p.Glu462=
|
3.0 |
|
B | ||
| 6101 | chr2 | 25750285 | G | A |
c.1271C>T
|
p.Pro424Leu
|
3.0 |
|
B | ||
| 34744 | chr2 | 25750421 | G | A |
c.1143-8C>T
|
-
|
3.0 |
|
B | ||
| 116 | chr2 | 25753607 | G | A |
c.1069C>T
|
p.Arg357Ter
|
- | 4.67 |
|
A |