Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21368 | chr2 | 178617820 | G | T |
c.47531C>A
|
p.Pro15844Gln
|
3.0 |
|
B | ||
| 28454 | chr2 | 178617911 | C | A |
c.47440G>T
|
p.Glu15814Ter
|
- | 3.0 |
|
B | |
| 23441 | chr2 | 178618437 | A | C |
c.47021T>G
|
p.Val15674Gly
|
- | 3.0 |
|
B | |
| 13245 | chr2 | 178618483 | C | A |
c.46975G>T
|
p.Gly15659Trp
|
- | 3.0 |
|
B | |
| 29112 | chr2 | 178619975 | A | G |
c.46429+13T>C
|
-
|
- | 3.0 |
|
B | |
| 30079 | chr2 | 178620024 | C | T |
c.46393G>A
|
p.Glu15465Lys
|
- | 3.0 |
|
B | |
| 16058 | chr2 | 178620216 | C | G |
c.46304+1G>C
|
p.?
|
- | 3.0 |
|
B | |
| 17224 | chr2 | 178620347 | C | T |
c.46174G>A
|
p.Glu15392Lys
|
- | 3.0 |
|
B | |
| 33437 | chr2 | 178620515 | T | C |
c.46006A>G
|
p.Lys15336Glu
|
- | 3.0 |
|
B | |
| 30818 | chr2 | 178620810 | C | T |
c.45800G>A
|
p.Arg15267Lys
|
- | 3.0 |
|
B | |
| 18067 | chr2 | 178620940 | C | T |
c.45670G>A
|
p.Glu15224Lys
|
- | 3.0 |
|
B | |
| 32229 | chr2 | 178621123 | C | T |
c.45595G>A
|
p.Ala15199Thr
|
- | 3.0 |
|
B | |
| 25211 | chr2 | 178621210 | C | T |
c.45508G>A
|
p.Asp15170Asn
|
3.0 |
|
B | ||
| 18771 | chr2 | 178621243 | G | A |
c.45475C>T
|
p.Leu15159Phe
|
- | 3.0 |
|
B | |
| 31394 | chr2 | 178621283 | T | G |
c.45435A>C
|
p.Lys15145Asn
|
- | 3.0 |
|
B | |
| 8288 | chr2 | 178621347 | G | C |
c.45371C>G
|
p.Ser15124Ter
|
- | 3.0 |
|
B | |
| 16912 | chr2 | 178621577 | G | A |
c.45247C>T
|
p.Arg15083Trp
|
2.5 |
|
B | ||
| 34881 | chr2 | 178621604 | C | G |
c.45220G>C
|
p.Gly15074Arg
|
- | 3.0 |
|
B | |
| 14013 | chr2 | 178621649 | C | T |
c.45175G>A
|
p.Ala15059Thr
|
1.5 |
|
B | ||
| 23572 | chr2 | 178621667 | C | T |
c.45157G>A
|
p.Glu15053Lys
|
- | 3.0 |
|
B |