Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11688 | chr2 | 197405358 | T | C |
c.1354A>G
|
p.Thr452Ala
|
- | 3.0 |
|
B | |
| 21372 | chr2 | 197405364 | C | T |
c.1348G>A
|
p.Asp450Asn
|
- | 3.0 |
|
B | |
| 29866 | chr2 | 197405379 | G | A |
c.1333C>T
|
p.His445Tyr
|
3.0 |
|
B | ||
| 9549 | chr2 | 197408053 | C | A |
c.1184G>T
|
p.Arg395Ile
|
- | 3.0 |
|
B | |
| 11953 | chr2 | 197408355 | T | G |
c.1117+14A>C
|
-
|
- | 3.0 |
|
B | |
| 26506 | chr2 | 197408566 | C | A |
c.920G>T
|
p.Gly307Val
|
- | 3.0 |
|
B | |
| 13710 | chr2 | 197408601 | G | A |
c.905-20C>T
|
-
|
3.0 |
|
B | ||
| 34311 | chr2 | 197409817 | G | C |
c.857C>G
|
p.Ser286Cys
|
- | 3.0 |
|
B | |
| 33786 | chr2 | 197409821 | T | G |
c.853A>C
|
p.Thr285Pro
|
- | 3.0 |
|
B | |
| 19549 | chr2 | 197409916 | AT | A |
c.757del
|
p.Ile253TyrfsTer101
|
- | 3.0 |
|
B | |
| 18911 | chr2 | 197409961 | C | T |
c.713G>A
|
p.Arg238His
|
3.0 |
|
B | ||
| 640 | chr2 | 197416826 | G | C |
c.581C>G
|
p.Ser194Ter
|
- | 3.0 |
|
B | |
| 6551 | chr2 | 197416917 | A | G |
c.496-6T>C
|
-
|
3.0 |
|
B | ||
| 29789 | chr2 | 197421076 | G | A |
c.253C>T
|
p.His85Tyr
|
- | 3.0 |
|
B | |
| 11122 | chr2 | 199380428 | G | A |
c.533C>T
|
p.Ala178Val
|
3.0 |
|
B | ||
| 34108 | chr2 | 201266444 | C | T |
c.-26-17C>T
|
-
|
- | 3.0 |
|
B | |
| 17181 | chr2 | 201266607 | G | T |
c.121G>T
|
p.Ala41Ser
|
- | 3.0 |
|
B | |
| 1494 | chr2 | 201266610 | T | G |
c.124T>G
|
p.Leu42Val
|
- | 3.0 |
|
B | |
| 19967 | chr2 | 201266634 | GAA | G |
c.151_152del
|
p.Lys51GlufsTer19
|
- | 4.0 |
|
B | |
| 10844 | chr2 | 201266763 | C | T |
c.277C>T
|
p.Pro93Ser
|
- | 3.0 |
|
B |