Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5121 | chr5 | 23517930 | G | T |
c.351G>T
|
p.Lys117Asn
|
- | 3.0 |
|
B | |
| 1312 | chr5 | 23521036 | C | T |
c.365C>T
|
p.Ala122Val
|
3.0 |
|
B | ||
| 31188 | chr5 | 23521041 | T | A |
c.370T>A
|
p.Phe124Ile
|
- | 3.0 |
|
B | |
| 31189 | chr5 | 23521068 | T | A |
c.397T>A
|
p.Leu133Met
|
- | 3.0 |
|
B | |
| 9226 | chr5 | 23521078 | C | T |
c.407C>T
|
p.Thr136Ile
|
- | 3.0 |
|
B | |
| 7405 | chr5 | 23521088 | A | T |
c.417A>T
|
p.Leu139Phe
|
- | 3.0 |
|
B | |
| 21303 | chr5 | 23521123 | C | T |
c.452C>T
|
p.Pro151Leu
|
- | 3.0 |
|
B | |
| 31178 | chr5 | 23521178 | G | A |
c.507G>A
|
p.Leu169=
|
- | 3.0 |
|
B | |
| 12991 | chr5 | 23521198 | G | A |
c.508+19G>A
|
-
|
3.0 |
|
B | ||
| 32264 | chr5 | 23521199 | G | C |
c.508+20G>C
|
-
|
- | 3.0 |
|
B | |
| 7757 | chr5 | 23522340 | G | T |
c.545G>T
|
p.Ser182Ile
|
- | 3.0 |
|
B | |
| 28312 | chr5 | 23522345 | C | T |
c.550C>T
|
p.Arg184Ter
|
3.0 |
|
B | ||
| 12089 | chr5 | 23522355 | AG | A |
c.563del
|
p.Gly188ValfsTer38
|
- | 3.0 |
|
B | |
| 10390 | chr5 | 23522384 | C | A |
c.589C>A
|
p.Pro197Thr
|
- | 3.0 |
|
B | |
| 31399 | chr5 | 23522411 | T | A |
c.610+6T>A
|
-
|
- | 3.0 |
|
B | |
| 24688 | chr5 | 23522616 | T | G |
c.613T>G
|
p.Cys205Gly
|
- | 3.0 |
|
B | |
| 1749 | chr5 | 23522628 | C | T |
c.625C>T
|
p.Gln209Ter
|
3.0 |
|
B | ||
| 24818 | chr5 | 23522635 | T | A |
c.632T>A
|
p.Phe211Tyr
|
- | 3.0 |
|
B | |
| 13506 | chr5 | 23522659 | A | T |
c.656A>T
|
p.His219Leu
|
- | 3.0 |
|
B | |
| 31899 | chr5 | 23522687 | T | G |
c.684T>G
|
p.Ser228Arg
|
- | 3.0 |
|
B |